#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
C1orf64	149563	broad.mit.edu	37	1	16332490	16332490	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:16332490G>T	ENST00000329454.2	+	2	227	c.159G>T	c.(157-159)aaG>aaT	p.K53N	RP11-5P18.5_ENST00000437156.1_RNA	NM_178840.2	NP_849162.1	Q8NEQ6	CA064_HUMAN	chromosome 1 open reading frame 64	53										breast(2)|endometrium(1)|lung(3)	6		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		CCCACGGGAAGCAGCTCTCCC	0.572																																							uc001axn.2		NA																	0				breast(2)	2						c.(157-159)AAG>AAT		hypothetical protein LOC149563							163.0	167.0	166.0					1																	16332490		2203	4300	6503	SO:0001583	missense	149563							g.chr1:16332490G>T	AK127425	CCDS166.1	1p36.13	2013-10-11			ENSG00000183888	ENSG00000183888			28339	protein-coding gene	gene with protein product	"""ER-related factor"""					22341523	Standard	NM_178840		Approved	MGC24047, ERRF	uc001axn.3	Q8NEQ6	OTTHUMG00000009523	ENST00000329454.2:c.159G>T	1.37:g.16332490G>T	ENSP00000332162:p.Lys53Asn						p.K53N	NM_178840	NP_849162	Q8NEQ6	CA064_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)	2	227	+		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	53					B3KXI9	Missense_Mutation	SNP	ENST00000329454.2	37	c.159G>T	CCDS166.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299458	0.40694	.	.	ENSG00000183888	ENST00000329454	T	0.62498	0.02	5.47	-5.33	0.02713	.	0.244957	0.29087	N	0.013196	T	0.55353	0.1915	L	0.34521	1.04	0.09310	N	1	P	0.44946	0.846	P	0.49012	0.598	T	0.62006	-0.6945	10	0.72032	D	0.01	-4.0919	16.2584	0.82528	0.2048:0.0:0.7952:0.0	.	53	Q8NEQ6	CA064_HUMAN	N	53	ENSP00000332162:K53N	ENSP00000332162:K53N	K	+	3	2	C1orf64	16205077	0.001000	0.12720	0.000000	0.03702	0.011000	0.07611	-0.136000	0.10405	-0.909000	0.03852	-0.140000	0.14226	AAG		0.572	C1orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026317.1	NM_178840		22	199	1	0	5.26018e-13	0.001882	9.04591e-13	22	199				
HSPG2	3339	broad.mit.edu	37	1	22174314	22174314	+	Silent	SNP	C	C	T	rs571876580		TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:22174314C>T	ENST00000374695.3	-	61	7972	c.7893G>A	c.(7891-7893)ccG>ccA	p.P2631P	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2631	Ig-like C2-type 12.				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)	CGATCCTGATCGGTGGGGAGA	0.627													T|||	1	0.000199681	0.0	0.0	5008	,	,		20259	0.001		0.0	False		,,,				2504	0.0						uc001bfj.2		NA																	0				ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(7891-7893)CCG>CCA		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						59.0	64.0	62.0					1																	22174314		2203	4300	6503	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22174314C>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.7893G>A	1.37:g.22174314C>T						HSPG2_uc009vqd.2_Silent_p.P2632P	p.P2631P	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)	61	7933	-		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)	2631			Ig-like C2-type 12.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.7893G>A	CCDS30625.1																																																																																				0.627	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		6	41	0	0	0	0.00308	0	6	41				
TMEM200B	399474	broad.mit.edu	37	1	29447669	29447669	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:29447669G>T	ENST00000420504.2	-	2	829	c.672C>A	c.(670-672)taC>taA	p.Y224*	TMEM200B_ENST00000521452.1_Nonsense_Mutation_p.Y224*	NM_001171868.1	NP_001165339.1	Q69YZ2	T200B_HUMAN	transmembrane protein 200B	224	Pro-rich.					integral component of membrane (GO:0016021)				ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.00765)|Lung NSC(340;0.0153)|all_lung(284;0.0173)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;7.32e-08)|COAD - Colon adenocarcinoma(152;4.92e-06)|STAD - Stomach adenocarcinoma(196;0.00618)|BRCA - Breast invasive adenocarcinoma(304;0.0501)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.126)		CCTTCAGCGGGTAGCTGTTGA	0.647																																							uc001brn.1		NA																	0					0						c.(670-672)TAC>TAA		transmembrane protein 200B							25.0	28.0	27.0					1																	29447669		2203	4300	6503	SO:0001587	stop_gained	399474					integral to membrane		g.chr1:29447669G>T		CCDS30658.1	1p35	2007-12-18			ENSG00000253304	ENSG00000253304			33785	protein-coding gene	gene with protein product						15722956	Standard	NM_001003682		Approved	TTMB	uc001brn.2	Q69YZ2	OTTHUMG00000003658	ENST00000420504.2:c.672C>A	1.37:g.29447669G>T	ENSP00000428544:p.Tyr224*						p.Y224*	NM_001003682	NP_001003682	Q69YZ2	T200B_HUMAN		Colorectal(126;7.32e-08)|COAD - Colon adenocarcinoma(152;4.92e-06)|STAD - Stomach adenocarcinoma(196;0.00618)|BRCA - Breast invasive adenocarcinoma(304;0.0501)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.126)	2	732	-		Colorectal(325;3.46e-05)|Breast(348;0.00765)|Lung NSC(340;0.0153)|all_lung(284;0.0173)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	224			Pro-rich.		Q6P2G8|Q6P2Q5	Nonsense_Mutation	SNP	ENST00000420504.2	37	c.672C>A	CCDS30658.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.576586	0.86645	.	.	ENSG00000253304	ENST00000521452;ENST00000420504	.	.	.	4.08	1.98	0.26296	.	0.486110	0.15272	U	0.271173	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.1199	0.10101	0.0911:0.1594:0.5854:0.1641	.	.	.	.	X	224	.	ENSP00000428544:Y224X	Y	-	3	2	TMEM200B	29320256	0.086000	0.21541	0.984000	0.44739	0.876000	0.50452	1.942000	0.40243	1.025000	0.39708	0.655000	0.94253	TAC		0.647	TMEM200B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010377.2	NM_001003682		3	24	1	0	0.004672	0.004672	0.00522435	3	24				
C8A	731	broad.mit.edu	37	1	57349256	57349256	+	Missense_Mutation	SNP	G	G	T	rs141666945		TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:57349256G>T	ENST00000361249.3	+	6	853	c.757G>T	c.(757-759)Ggc>Tgc	p.G253C		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	253	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AGTGACCATCGGCATAGGCCC	0.428																																							uc001cyo.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(757-759)GGC>TGC		complement component 8, alpha polypeptide							73.0	74.0	74.0					1																	57349256		2203	4300	6503	SO:0001583	missense	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57349256G>T	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.757G>T	1.37:g.57349256G>T	ENSP00000354458:p.Gly253Cys						p.G253C	NM_000562	NP_000553	P07357	CO8A_HUMAN			6	889	+			253			MACPF.		A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	c.757G>T	CCDS606.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.673751	0.67928	.	.	ENSG00000157131	ENST00000361249	T	0.77358	-1.09	5.84	4.9	0.64082	Membrane attack complex component/perforin (MACPF) domain (1);	0.190803	0.56097	D	0.000026	D	0.88537	0.6463	M	0.85299	2.745	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	D	0.89814	0.3984	10	0.62326	D	0.03	-16.5423	13.498	0.61436	0.0787:0.0:0.9213:0.0	.	253	P07357	CO8A_HUMAN	C	253	ENSP00000354458:G253C	ENSP00000354458:G253C	G	+	1	0	C8A	57121844	0.999000	0.42202	0.052000	0.19188	0.029000	0.11900	3.766000	0.55280	1.405000	0.46838	0.591000	0.81541	GGC		0.428	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		7	69	1	0	8.12818e-05	0.001984	0.000101379	7	69				
SELENBP1	8991	broad.mit.edu	37	1	151338767	151338767	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:151338767C>A	ENST00000368868.5	-	7	918	c.827G>T	c.(826-828)cGc>cTc	p.R276L	SELENBP1_ENST00000435071.1_Missense_Mutation_p.R212L|SELENBP1_ENST00000473693.1_5'Flank|SELENBP1_ENST00000426705.2_Missense_Mutation_p.R318L|SELENBP1_ENST00000447402.3_Missense_Mutation_p.R214L	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	276					protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTTGTAGAAGCGCTGGATGGT	0.572																																							uc001exx.2		NA																	0					0						c.(826-828)CGC>CTC		selenium binding protein 1							141.0	140.0	140.0					1																	151338767		2203	4300	6503	SO:0001583	missense	8991				protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding	g.chr1:151338767C>A	U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.827G>T	1.37:g.151338767C>A	ENSP00000357861:p.Arg276Leu					SELENBP1_uc010pcy.1_Missense_Mutation_p.R318L|SELENBP1_uc001exy.2_Missense_Mutation_p.R173L|SELENBP1_uc001exz.2_Missense_Mutation_p.R173L|SELENBP1_uc010pcz.1_Missense_Mutation_p.R214L|SELENBP1_uc009wms.2_Missense_Mutation_p.R112L|SELENBP1_uc009wmt.2_Missense_Mutation_p.R173L|SELENBP1_uc001eya.2_Missense_Mutation_p.R212L|SELENBP1_uc009wmu.2_Missense_Mutation_p.R173L	p.R276L	NM_003944	NP_003935	Q13228	SBP1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		7	874	-	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		276					A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Missense_Mutation	SNP	ENST00000368868.5	37	c.827G>T	CCDS995.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.46|19.46	3.831493|3.831493	0.71258|0.71258	.|.	.|.	ENSG00000143416|ENSG00000143416	ENST00000424475|ENST00000368868;ENST00000447402;ENST00000435071;ENST00000458566;ENST00000426705	.|T;T;T;T;T	.|0.28069	.|1.63;1.63;1.63;2.74;2.74	4.45|4.45	3.54|3.54	0.40534|0.40534	.|WD40/YVTN repeat-like-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.25044|0.25044	0.0608|0.0608	L|L	0.46885|0.46885	1.475|1.475	0.80722|0.80722	D|D	1|1	.|P;D;P;P;D;B;B;B	.|0.54964	.|0.722;0.969;0.947;0.925;0.969;0.034;0.152;0.114	.|P;D;D;D;D;B;B;B	.|0.66497	.|0.536;0.944;0.918;0.939;0.939;0.113;0.066;0.138	T|T	0.10543|0.10543	-1.0625|-1.0625	5|10	.|0.07990	.|T	.|0.79	-10.2037|-10.2037	11.0635|11.0635	0.47961|0.47961	0.0:0.9087:0.0:0.0913|0.0:0.9087:0.0:0.0913	.|.	.|214;318;236;260;212;129;212;276	.|B4E1F3;A6PVW9;A6PVW8;A6PVX1;Q9H8A8;B4DPI7;Q13228-2;Q13228	.|.;.;.;.;.;.;.;SBP1_HUMAN	S|L	237|276;214;212;260;318	.|ENSP00000357861:R276L;ENSP00000413960:R214L;ENSP00000408263:R212L;ENSP00000406222:R260L;ENSP00000397261:R318L	.|ENSP00000357861:R276L	A|R	-|-	1|2	0|0	SELENBP1|SELENBP1	149605391|149605391	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.931000|0.931000	0.56810|0.56810	2.880000|2.880000	0.48530|0.48530	1.091000|1.091000	0.41335|0.41335	0.514000|0.514000	0.50259|0.50259	GCT|CGC		0.572	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034904.4			34	132	1	0	3.11337e-16	0.002836	5.56485e-16	34	132				
SCAMP3	10067	broad.mit.edu	37	1	155227303	155227303	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:155227303C>G	ENST00000302631.3	-	6	770	c.663G>C	c.(661-663)atG>atC	p.M221I	SCAMP3_ENST00000355379.3_Missense_Mutation_p.M195I|FAM189B_ENST00000472550.1_5'Flank|FAM189B_ENST00000368368.3_5'Flank|SCAMP3_ENST00000472397.1_5'UTR|FAM189B_ENST00000350210.2_5'Flank|FAM189B_ENST00000361361.2_5'Flank	NM_005698.3	NP_005689.2	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	221					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|response to retinoic acid (GO:0032526)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AAGCCTTATACATGGGGCGGT	0.547																																							uc001fjs.2		NA																	0				ovary(3)	3						c.(661-663)ATG>ATC		secretory carrier membrane protein 3 isoform 1							58.0	56.0	56.0					1																	155227303		2203	4300	6503	SO:0001583	missense	10067				post-Golgi vesicle-mediated transport|protein transport	integral to membrane		g.chr1:155227303C>G	AF005039	CCDS1105.1, CCDS1106.1	1q21	2013-02-21			ENSG00000116521	ENSG00000116521		"""Secretory carrier membrane proteins"""	10565	protein-coding gene	gene with protein product	"""Propin 1"""	606913		C1orf3		9331372, 9658162	Standard	NM_005698		Approved		uc001fjs.3	O14828	OTTHUMG00000035874	ENST00000302631.3:c.663G>C	1.37:g.155227303C>G	ENSP00000307275:p.Met221Ile					RAG1AP1_uc010pey.1_Intron|FAM189B_uc001fjm.2_5'Flank|FAM189B_uc001fjn.2_5'Flank|FAM189B_uc001fjo.2_5'Flank|FAM189B_uc001fjp.2_5'Flank|FAM189B_uc001fjq.1_5'Flank|SCAMP3_uc001fjr.2_Missense_Mutation_p.M68I|SCAMP3_uc001fju.2_Missense_Mutation_p.M207I|SCAMP3_uc001fjv.2_Missense_Mutation_p.M221I|SCAMP3_uc001fjt.2_Missense_Mutation_p.M195I	p.M221I	NM_005698	NP_005689	O14828	SCAM3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		6	916	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		221					A9Z1W6|B1AVS6|O15128|Q96FR8|Q9BPY0	Missense_Mutation	SNP	ENST00000302631.3	37	c.663G>C	CCDS1105.1	.	.	.	.	.	.	.	.	.	.	.	8.205	0.798967	0.16397	.	.	ENSG00000116521	ENST00000302631;ENST00000355379	T;T	0.14022	2.54;2.54	4.92	4.92	0.64577	.	0.163418	0.56097	D	0.000034	T	0.02083	0.0065	N	0.01779	-0.725	0.43417	D	0.995565	B;B;P	0.35684	0.004;0.005;0.515	B;B;B	0.33392	0.017;0.018;0.163	T	0.47736	-0.9094	10	0.12103	T	0.63	-17.6166	16.858	0.86010	0.0:1.0:0.0:0.0	.	221;195;221	Q6FHJ5;O14828-2;O14828	.;.;SCAM3_HUMAN	I	221;195	ENSP00000307275:M221I;ENSP00000347540:M195I	ENSP00000307275:M221I	M	-	3	0	SCAMP3	153493927	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.479000	0.45197	2.554000	0.86153	0.561000	0.74099	ATG		0.547	SCAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087399.1	NM_005698		3	27	0	0	0	0.004672	0	3	27				
ASH1L	55870	broad.mit.edu	37	1	155408566	155408566	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:155408566G>A	ENST00000368346.3	-	5	6019	c.5380C>T	c.(5380-5382)Cat>Tat	p.H1794Y	ASH1L_ENST00000392403.3_Missense_Mutation_p.H1794Y			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1794					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.H1794delH(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTCTTGATATGATGGGGGGAA	0.433																																							uc009wqq.2		NA																	1	Deletion - In frame(1)		large_intestine(1)	skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11						c.(5380-5382)CAT>TAT		absent, small, or homeotic 1-like							121.0	119.0	120.0					1																	155408566		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155408566G>A	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.5380C>T	1.37:g.155408566G>A	ENSP00000357330:p.His1794Tyr					ASH1L_uc001fkt.2_Missense_Mutation_p.H1794Y	p.H1794Y	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		5	5860	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1794					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.5380C>T		.	.	.	.	.	.	.	.	.	.	G	14.61	2.588200	0.46110	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.89415	-2.51;-2.51	4.94	4.94	0.65067	.	0.059153	0.64402	D	0.000002	T	0.82070	0.4957	N	0.19112	0.55	0.80722	D	1	D;D	0.56968	0.963;0.978	B;P	0.47528	0.346;0.549	D	0.85502	0.1192	10	0.66056	D	0.02	.	18.3157	0.90220	0.0:0.0:1.0:0.0	.	1794;1794	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	Y	1794	ENSP00000357330:H1794Y;ENSP00000376204:H1794Y	ENSP00000357330:H1794Y	H	-	1	0	ASH1L	153675190	0.982000	0.34865	0.988000	0.46212	0.145000	0.21501	3.559000	0.53756	2.735000	0.93741	0.655000	0.94253	CAT		0.433	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		10	155	0	0	0	0.006214	0	10	155				
PYHIN1	149628	broad.mit.edu	37	1	158911793	158911793	+	Missense_Mutation	SNP	C	C	A	rs202171823		TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:158911793C>A	ENST00000368140.1	+	5	851	c.606C>A	c.(604-606)caC>caA	p.H202Q	PYHIN1_ENST00000368138.3_Missense_Mutation_p.H193Q|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392254.2_Missense_Mutation_p.H202Q|PYHIN1_ENST00000392252.3_Missense_Mutation_p.H193Q	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	202	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					CCAACCGTCACGCAACTGCCA	0.373																																							uc001ftb.2		NA																	0				ovary(3)|pancreas(1)	4						c.(604-606)CAC>CAA		pyrin and HIN domain family, member 1 alpha 1							53.0	53.0	53.0					1																	158911793		2203	4300	6503	SO:0001583	missense	149628				cell cycle	nuclear speck		g.chr1:158911793C>A	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.606C>A	1.37:g.158911793C>A	ENSP00000357122:p.His202Gln					PYHIN1_uc001ftc.2_Missense_Mutation_p.H193Q|PYHIN1_uc001ftd.2_Missense_Mutation_p.H202Q|PYHIN1_uc001fte.2_Missense_Mutation_p.H193Q	p.H202Q	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN			5	851	+	all_hematologic(112;0.0378)		202			HIN-200.		Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	c.606C>A	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.076097	0.00375	.	.	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252	T;T;T;T	0.04156	3.7;3.69;3.72;3.7	2.84	-3.38	0.04883	HIN-200/IF120x (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.00210	0.0006	N	0.00125	-2.05	0.09310	N	1	B;B;B;B	0.09022	0.0;0.0;0.002;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.43798	-0.9369	9	0.02654	T	1	.	0.0804	0.00031	0.2847:0.1676:0.2111:0.3366	.	193;202;193;202	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9	.;.;.;IFIX_HUMAN	Q	202;193;202;193	ENSP00000357122:H202Q;ENSP00000357120:H193Q;ENSP00000376083:H202Q;ENSP00000376082:H193Q	ENSP00000357120:H193Q	H	+	3	2	PYHIN1	157178417	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.838000	0.00354	-0.826000	0.04284	-0.752000	0.03492	CAC		0.373	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		9	54	1	0	3.86212e-05	0.008291	4.92529e-05	9	54				
CD244	51744	broad.mit.edu	37	1	160801171	160801171	+	Missense_Mutation	SNP	C	C	A	rs369311545		TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:160801171C>A	ENST00000368033.3	-	9	1161	c.1079G>T	c.(1078-1080)cGc>cTc	p.R360L	CD244_ENST00000481677.1_5'Flank|CD244_ENST00000368034.4_Missense_Mutation_p.R355L|CD244_ENST00000322302.7_Missense_Mutation_p.R263L			Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	360					blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CAGCTCTTTGCGGCTCAATCG	0.463																																							uc009wtq.2		NA																	0				ovary(1)	1						c.(1078-1080)CGC>CTC		CD244 natural killer cell receptor 2B4							152.0	146.0	148.0					1																	160801171		2203	4300	6503	SO:0001583	missense	51744				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity	g.chr1:160801171C>A	AF105261	CCDS1210.1, CCDS53398.1, CCDS53399.1	1q23.1	2013-01-11	2006-03-29		ENSG00000122223	ENSG00000122223		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18171	protein-coding gene	gene with protein product		605554	"""natural killer cell receptor 2B4"", ""CD244 natural killer cell receptor 2B4"""			3772297, 10458320	Standard	NM_016382		Approved	2B4, NAIL, NKR2B4, Nmrk, SLAMF4	uc009wtq.3	Q9BZW8	OTTHUMG00000028606	ENST00000368033.3:c.1079G>T	1.37:g.160801171C>A	ENSP00000357012:p.Arg360Leu					CD244_uc001fxa.2_Missense_Mutation_p.R355L|CD244_uc009wtp.2_RNA|CD244_uc009wtr.2_Missense_Mutation_p.R263L	p.R360L	NM_016382	NP_057466	Q9BZW8	CD244_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		9	1257	-	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		360			Cytoplasmic (Potential).		Q5VYI2|Q5VYI6|Q5VYI7|Q96T47|Q9NQD2|Q9NQD3|Q9Y288	Missense_Mutation	SNP	ENST00000368033.3	37	c.1079G>T	CCDS53399.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.616590	0.66672	.	.	ENSG00000122223	ENST00000368034;ENST00000368033;ENST00000322302	T;T;T	0.56776	2.3;1.61;0.44	3.83	0.857	0.19025	.	0.498586	0.17226	N	0.182158	T	0.41073	0.1143	L	0.34521	1.04	0.58432	D	0.999998	D;D;D	0.89917	0.976;1.0;1.0	P;D;D	0.79784	0.745;0.985;0.993	T	0.45948	-0.9226	10	0.87932	D	0	-22.146	3.1532	0.06495	0.2098:0.5643:0.0:0.2259	.	263;360;355	Q9BZW8-4;Q9BZW8;Q9BZW8-2	.;CD244_HUMAN;.	L	355;360;263	ENSP00000357013:R355L;ENSP00000357012:R360L;ENSP00000313619:R263L	ENSP00000313619:R263L	R	-	2	0	CD244	159067795	0.038000	0.19896	0.765000	0.31456	0.407000	0.30961	-0.489000	0.06490	0.195000	0.20347	0.563000	0.77884	CGC		0.463	CD244-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071469.1	NM_016382		9	124	1	0	1.08611e-07	0.000978	1.58043e-07	9	124				
OLFML2B	25903	broad.mit.edu	37	1	161953806	161953806	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:161953806C>A	ENST00000294794.3	-	8	2335	c.1912G>T	c.(1912-1914)Gat>Tat	p.D638Y	OLFML2B_ENST00000367938.1_Missense_Mutation_p.D121Y|OLFML2B_ENST00000367940.2_Missense_Mutation_p.D639Y	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	638	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			AAGCCCTCATCGTCCAGGGCC	0.632																																							uc001gbu.2		NA																	0				skin(1)	1						c.(1912-1914)GAT>TAT		olfactomedin-like 2B precursor							72.0	65.0	67.0					1																	161953806		2203	4300	6503	SO:0001583	missense	25903							g.chr1:161953806C>A	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1912G>T	1.37:g.161953806C>A	ENSP00000294794:p.Asp638Tyr					OLFML2B_uc001gbt.2_Missense_Mutation_p.D121Y|OLFML2B_uc010pkq.1_Missense_Mutation_p.D639Y	p.D638Y	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		8	2336	-	all_hematologic(112;0.156)		638			Olfactomedin-like.		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	c.1912G>T	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.552244	0.45487	.	.	ENSG00000162745	ENST00000294794;ENST00000367940;ENST00000367938	D;D;D	0.89617	-2.54;-2.54;-2.54	5.36	5.36	0.76844	Olfactomedin-like (3);	.	.	.	.	T	0.77896	0.4199	N	0.26042	0.785	0.42896	D	0.994215	B;B	0.28178	0.202;0.106	B;B	0.33620	0.167;0.124	T	0.75260	-0.3380	8	0.27785	T	0.31	.	16.5695	0.84607	0.0:1.0:0.0:0.0	.	639;638	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	Y	638;639;121	ENSP00000294794:D638Y;ENSP00000356917:D639Y;ENSP00000356915:D121Y	ENSP00000294794:D638Y	D	-	1	0	OLFML2B	160220430	1.000000	0.71417	0.249000	0.24280	0.984000	0.73092	6.121000	0.71602	2.491000	0.84063	0.561000	0.74099	GAT		0.632	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		6	62	1	0	0.00116845	0.001168	0.00133958	6	62				
TNN	63923	broad.mit.edu	37	1	175086110	175086110	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:175086110G>A	ENST00000239462.4	+	10	2268	c.2155G>A	c.(2155-2157)Gtg>Atg	p.V719M		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	719	Fibronectin type-III 6. {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)		GACCGACCGGGTGACAGAGAA	0.527																																							uc001gkl.1		NA																	0				large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(2155-2157)GTG>ATG		tenascin N precursor							63.0	72.0	69.0					1																	175086110		2202	4300	6502	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175086110G>A	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.2155G>A	1.37:g.175086110G>A	ENSP00000239462:p.Val719Met						p.V719M	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	10	2268	+		Breast(1374;0.000962)	719			Fibronectin type-III 6.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.2155G>A	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.991866	0.54041	.	.	ENSG00000120332	ENST00000239462	T	0.60171	0.21	5.37	4.45	0.53987	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.482456	0.21474	N	0.073942	D	0.82300	0.5007	H	0.96048	3.76	0.46823	D	0.999212	D	0.89917	1.0	D	0.97110	1.0	D	0.86228	0.1635	10	0.59425	D	0.04	.	12.1979	0.54309	0.0797:0.0:0.9203:0.0	.	719	Q9UQP3	TENN_HUMAN	M	719	ENSP00000239462:V719M	ENSP00000239462:V719M	V	+	1	0	TNN	173352733	1.000000	0.71417	0.958000	0.39756	0.202000	0.24057	8.338000	0.90038	1.402000	0.46780	0.655000	0.94253	GTG		0.527	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		21	121	0	0	0	0.002299	0	21	121				
BRINP3	339479	broad.mit.edu	37	1	190067232	190067232	+	Silent	SNP	C	C	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:190067232C>G	ENST00000367462.3	-	8	2448	c.2217G>C	c.(2215-2217)gtG>gtC	p.V739V	BRINP3_ENST00000534846.1_Silent_p.V637V	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	739					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.V739V(1)									GGATCCTCACCACCTCACTAG	0.438																																							uc001gse.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(2215-2217)GTG>GTC		family with sequence similarity 5, member C							126.0	122.0	123.0					1																	190067232		2203	4300	6503	SO:0001819	synonymous_variant	339479					extracellular region		g.chr1:190067232C>G	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.2217G>C	1.37:g.190067232C>G						FAM5C_uc010pot.1_Silent_p.V637V	p.V739V	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			8	2449	-	Prostate(682;0.198)		739					B3KVP1|B7Z260|O95726|Q2M330	Silent	SNP	ENST00000367462.3	37	c.2217G>C	CCDS1373.1																																																																																				0.438	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		12	105	0	0	0	0.000978	0	12	105				
KCNT2	343450	broad.mit.edu	37	1	196309558	196309558	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:196309558G>T	ENST00000294725.9	-	16	2611	c.1696C>A	c.(1696-1698)Caa>Aaa	p.Q566K	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Missense_Mutation_p.Q177K|KCNT2_ENST00000367433.5_Missense_Mutation_p.Q566K|KCNT2_ENST00000367431.4_Missense_Mutation_p.Q516K|KCNT2_ENST00000609185.1_Missense_Mutation_p.Q516K			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	566					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TGCTGGTCTTGGTTTTTAAAT	0.353																																							uc001gtd.1		NA																	0				ovary(5)|breast(1)|skin(1)	7						c.(1696-1698)CAA>AAA		potassium channel, subfamily T, member 2							111.0	105.0	107.0					1																	196309558		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196309558G>T	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.1696C>A	1.37:g.196309558G>T	ENSP00000294725:p.Gln566Lys					KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.Q516K|KCNT2_uc001gtf.1_Missense_Mutation_p.Q566K|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.Q566K|KCNT2_uc001gth.1_Missense_Mutation_p.Q87K	p.Q566K	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			16	1756	-			566			Cytoplasmic (Potential).		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.1696C>A	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.018022	0.35606	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000451324;ENST00000294725	T;T;T;T	0.29917	2.26;2.26;1.55;2.52	5.84	5.84	0.93424	.	0.095180	0.47093	D	0.000254	T	0.14657	0.0354	N	0.03154	-0.405	0.46981	D	0.999274	B;B;B;B;B	0.14012	0.009;0.0;0.001;0.0;0.009	B;B;B;B;B	0.20184	0.028;0.001;0.016;0.001;0.028	T	0.12372	-1.0550	10	0.06757	T	0.87	-11.2061	16.3841	0.83495	0.0:0.1316:0.8684:0.0	.	566;548;566;516;566	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	K	566;516;387;177;566	ENSP00000356403:Q566K;ENSP00000356401:Q516K;ENSP00000405474:Q177K;ENSP00000294725:Q566K	ENSP00000294725:Q566K	Q	-	1	0	KCNT2	194576181	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.921000	0.56454	2.751000	0.94390	0.650000	0.86243	CAA		0.353	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		11	72	1	0	1.08611e-07	0.000978	1.58043e-07	11	72				
LAMB3	3914	broad.mit.edu	37	1	209799302	209799302	+	Missense_Mutation	SNP	C	C	G	rs371013768	byFrequency	TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:209799302C>G	ENST00000356082.4	-	14	1801	c.1667G>C	c.(1666-1668)cGc>cCc	p.R556P	MIR4260_ENST00000583107.1_RNA|LAMB3_ENST00000391911.1_Missense_Mutation_p.R556P|LAMB3_ENST00000367030.3_Missense_Mutation_p.R556P	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	556	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CAAGCCAGGGCGGCAGAGGCA	0.622																																							uc001hhg.2		NA																	0				central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6						c.(1666-1668)CGC>CCC		laminin, beta 3 precursor							26.0	29.0	28.0					1																	209799302		2203	4299	6502	SO:0001583	missense	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209799302C>G	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.1667G>C	1.37:g.209799302C>G	ENSP00000348384:p.Arg556Pro					LAMB3_uc009xco.2_Missense_Mutation_p.R556P|LAMB3_uc001hhh.2_Missense_Mutation_p.R556P|LAMB3_uc010psl.1_Intron|hsa-mir-4260|MI0015859_5'Flank	p.R556P	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	13	2057	-			556			Laminin EGF-like 6.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	c.1667G>C	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109264	0.56398	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.63096	-0.02;-0.02;-0.02	5.0	4.09	0.47781	EGF-like, laminin (4);EGF-like region, conserved site (1);	0.054746	0.85682	D	0.000000	T	0.81889	0.4918	M	0.92367	3.3	0.44302	D	0.997179	D	0.89917	1.0	D	0.80764	0.994	D	0.84642	0.0696	10	0.66056	D	0.02	.	11.1526	0.48469	0.0:0.8458:0.0:0.1542	.	556	Q13751	LAMB3_HUMAN	P	556	ENSP00000375778:R556P;ENSP00000348384:R556P;ENSP00000355997:R556P	ENSP00000348384:R556P	R	-	2	0	LAMB3	207865925	0.001000	0.12720	1.000000	0.80357	0.737000	0.42083	0.142000	0.16096	1.105000	0.41606	-0.703000	0.03666	CGC		0.622	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		6	21	0	0	0	0.00308	0	6	21				
OBSCN	84033	broad.mit.edu	37	1	228558725	228558725	+	Splice_Site	SNP	G	G	A	rs201384897		TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:228558725G>A	ENST00000422127.1	+	94	20290	c.20246G>A	c.(20245-20247)cGt>cAt	p.R6749H	OBSCN_ENST00000570156.2_Splice_Site_p.R7706H|OBSCN_ENST00000366707.4_Splice_Site_p.R4383H	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6749					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGGTTCCAGCGTTCCCTGATG	0.677																																							uc009xez.1		NA																	0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(20245-20247)CGT>CAT		obscurin, cytoskeletal calmodulin and		G	HIS/ARG	1,4177		0,1,2088	44.0	49.0	48.0		20246	4.9	1.0	1		48	3,8419		0,3,4208	yes	missense-near-splice	OBSCN	NM_001098623.1	29	0,4,6296	AA,AG,GG		0.0356,0.0239,0.0317	probably-damaging	6749/7969	228558725	4,12596	2089	4211	6300	SO:0001630	splice_region_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228558725G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.20245-1G>A	1.37:g.228558725G>A						OBSCN_uc001hsr.1_Missense_Mutation_p.R1378H	p.R6749H	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			94	20290	+		Prostate(94;0.0405)	6749					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.20246G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.107697	0.56291	2.39E-4	3.56E-4	ENSG00000154358	ENST00000422127;ENST00000366707	T;T	0.66995	-0.24;-0.21	4.9	4.9	0.64082	Protein kinase-like domain (1);	.	.	.	.	T	0.80341	0.4605	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.82206	-0.0572	9	0.72032	D	0.01	.	18.2551	0.90017	0.0:0.0:1.0:0.0	.	6749	Q5VST9	OBSCN_HUMAN	H	6749;4383	ENSP00000409493:R6749H;ENSP00000355668:R4383H	ENSP00000355668:R4383H	R	+	2	0	OBSCN	226625348	1.000000	0.71417	1.000000	0.80357	0.070000	0.16714	7.380000	0.79704	2.544000	0.85801	0.555000	0.69702	CGT		0.677	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	Missense_Mutation	8	59	0	0	0	0.004482	0	8	59				
SPRTN	83932	broad.mit.edu	37	1	231474216	231474216	+	Silent	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:231474216G>T	ENST00000295050.7	+	1	423	c.87G>T	c.(85-87)ctG>ctT	p.L29L	EXOC8_ENST00000360394.2_5'Flank|SPRTN_ENST00000008440.9_Silent_p.L29L|SPRTN_ENST00000391858.4_Silent_p.L29L|EXOC8_ENST00000366645.1_5'Flank	NM_001010984.2|NM_032018.5	NP_001010984.1|NP_114407.3	Q9H040	SPRTN_HUMAN	SprT-like N-terminal domain	29					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of protein ubiquitination (GO:0031398)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|ubiquitin binding (GO:0043130)										AGGAGTCCCTGTCGCTAGTGG	0.582																																						Esophageal Squamous(43;65 937 18756 45127 47168)	uc001hur.2		NA																	0					0						c.(85-87)CTG>CTT		hypothetical protein LOC83932 isoform a							123.0	112.0	116.0					1																	231474216		2203	4300	6503	SO:0001819	synonymous_variant	83932				DNA repair	nuclear speck	DNA binding|metal ion binding	g.chr1:231474216G>T	AL512744	CCDS1594.1, CCDS31054.1, CCDS58066.1	1q42.12-q43	2013-01-30	2012-06-18	2012-06-18	ENSG00000010072	ENSG00000010072			25356	protein-coding gene	gene with protein product	"""SprT-like domain at the N terminus"", ""DNA damage-targeting VCP (p97) adaptor"""		"""chromosome 1 open reading frame 124"""	C1orf124		22681887	Standard	NM_032018		Approved	DKFZP547N043, Spartan, DVC1	uc001hur.4	Q9H040	OTTHUMG00000038022	ENST00000295050.7:c.87G>T	1.37:g.231474216G>T						EXOC8_uc001huq.2_5'Flank|C1orf124_uc001hus.2_Silent_p.L29L|C1orf124_uc001hut.2_Silent_p.L29L	p.L29L	NM_032018	NP_114407	Q9H040	CA124_HUMAN			1	535	+	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)	29					B1AKT0|B5MEF7|Q5TE78|Q6UWW6|Q96BC5|Q96KA0	Silent	SNP	ENST00000295050.7	37	c.87G>T	CCDS1594.1																																																																																				0.582	SPRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092858.1	NM_032018		16	91	1	0	2.62699e-14	0.003163	4.58712e-14	16	91				
ACTN2	88	broad.mit.edu	37	1	236898975	236898975	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:236898975G>T	ENST00000366578.4	+	8	904	c.738G>T	c.(736-738)atG>atT	p.M246I	ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000542672.1_Intron|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	246	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GAGCCATCATGACGTACGTCT	0.522																																							uc001hyf.2		NA																	0				ovary(4)|skin(1)	5						c.(736-738)ATG>ATT		actinin, alpha 2							196.0	145.0	162.0					1																	236898975		2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236898975G>T	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.738G>T	1.37:g.236898975G>T	ENSP00000355537:p.Met246Ile					ACTN2_uc001hyg.2_Missense_Mutation_p.M1I|ACTN2_uc009xgi.1_Intron|ACTN2_uc010pxu.1_Intron	p.M246I	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		8	942	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	246			CH 2.|Actin-binding.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.738G>T	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	G	30	5.054409	0.93793	.	.	ENSG00000077522	ENST00000366578	D	0.95001	-3.58	5.38	5.38	0.77491	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.95755	0.8619	L	0.35341	1.055	0.80722	D	1	P	0.34977	0.478	P	0.56865	0.808	D	0.95554	0.8623	10	0.72032	D	0.01	.	19.4894	0.95044	0.0:0.0:1.0:0.0	.	246	P35609	ACTN2_HUMAN	I	246	ENSP00000355537:M246I	ENSP00000355537:M246I	M	+	3	0	ACTN2	234965598	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.677000	0.91161	0.650000	0.86243	ATG		0.522	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		5	64	1	0	3.59834e-05	0.001168	4.64104e-05	5	64				
RGS7	6000	broad.mit.edu	37	1	240969527	240969527	+	Silent	SNP	G	G	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:240969527G>C	ENST00000407727.1	-	14	1181	c.1182C>G	c.(1180-1182)ccC>ccG	p.P394P	RGS7_ENST00000366563.1_Silent_p.P394P|RGS7_ENST00000401882.1_Silent_p.P341P|RGS7_ENST00000366564.1_Silent_p.P394P|RGS7_ENST00000331110.7_Silent_p.P368P|RGS7_ENST00000366565.1_Silent_p.P394P|RGS7_ENST00000348120.2_Silent_p.P341P|RGS7_ENST00000366562.4_Silent_p.P394P|RGS7_ENST00000446183.2_Silent_p.P310P			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	394	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.P394P(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TAATAGCACTGGGGGCTCCGG	0.478																																							uc001hyv.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(2)|kidney(1)	7						c.(1180-1182)CCC>CCG		regulator of G-protein signaling 7							146.0	140.0	142.0					1																	240969527		2203	4300	6503	SO:0001819	synonymous_variant	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:240969527G>C	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.1182C>G	1.37:g.240969527G>C						RGS7_uc010pyh.1_Silent_p.P368P|RGS7_uc010pyj.1_Silent_p.P310P|RGS7_uc001hyu.2_Silent_p.P394P|RGS7_uc009xgn.1_Silent_p.P341P|RGS7_uc001hyw.2_Silent_p.P394P|RGS7_uc001hyt.2_Silent_p.P226P	p.P394P	NM_002924	NP_002915	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		15	1512	-		all_cancers(173;0.0131)	394			RGS.		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Silent	SNP	ENST00000407727.1	37	c.1182C>G																																																																																					0.478	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		15	104	0	0	0	0.003163	0	15	104				
OR2T12	127064	broad.mit.edu	37	1	248458056	248458056	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:248458056G>C	ENST00000317996.1	-	1	824	c.825C>G	c.(823-825)ttC>ttG	p.F275L		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	275						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			ACATAGTATAGAAGGCTGACA	0.483																																							uc010pzj.1		NA																	0				skin(2)|ovary(1)	3						c.(823-825)TTC>TTG		olfactory receptor, family 2, subfamily T,							150.0	149.0	149.0					1																	248458056		2203	4300	6503	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458056G>C	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.825C>G	1.37:g.248458056G>C	ENSP00000324583:p.Phe275Leu						p.F275L	NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	825	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		275			Helical; Name=7; (Potential).			Missense_Mutation	SNP	ENST00000317996.1	37	c.825C>G	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	g	12.67	2.006388	0.35415	.	.	ENSG00000177201	ENST00000317996	T	0.00032	8.88	1.71	0.457	0.16661	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34906	U	0.003583	T	0.00210	0.0006	L	0.54965	1.715	0.09310	N	1	D	0.55385	0.971	P	0.56278	0.795	T	0.48433	-0.9036	10	0.66056	D	0.02	.	4.1331	0.10158	0.1785:0.0:0.596:0.2254	.	275	Q8NG77	O2T12_HUMAN	L	275	ENSP00000324583:F275L	ENSP00000324583:F275L	F	-	3	2	OR2T12	246524679	0.000000	0.05858	0.016000	0.15963	0.007000	0.05969	-2.973000	0.00666	0.754000	0.32968	0.418000	0.28097	TTC		0.483	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		23	152	0	0	0	0.00333	0	23	152				
OR2T11	127077	broad.mit.edu	37	1	248790268	248790268	+	Silent	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:248790268G>T	ENST00000330803.2	-	1	223	c.162C>A	c.(160-162)acC>acA	p.T54T		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGTACATGGGGGTGTGGAGGC	0.478																																							uc001ier.1		NA																	0				lung(1)	1						c.(160-162)ACC>ACA		olfactory receptor, family 2, subfamily T,							64.0	72.0	70.0					1																	248790268		2051	4235	6286	SO:0001819	synonymous_variant	127077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248790268G>T	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"""GPCR / Class A : Olfactory receptors"""	19574	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 11"""				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.162C>A	1.37:g.248790268G>T							p.T54T	NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	162	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		54			Cytoplasmic (Potential).		Q6IEY6	Silent	SNP	ENST00000330803.2	37	c.162C>A	CCDS31122.1																																																																																				0.478	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964		18	27	1	0	2.5808e-16	0.006122	4.64953e-16	18	27				
CDC123	8872	broad.mit.edu	37	10	12292308	12292308	+	Splice_Site	SNP	A	A	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr10:12292308A>G	ENST00000281141.4	+	13	1264		c.e13-1		CDC123_ENST00000378900.2_Splice_Site|RP11-186N15.3_ENST00000421657.1_RNA	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN	cell division cycle 123						cell cycle arrest (GO:0007050)|cell division (GO:0051301)|positive regulation of cell proliferation (GO:0008284)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						TTTCTTTGACAGAAGAGAAAT	0.502																																							uc001ill.2		NA																	0				central_nervous_system(1)	1						c.e13-2		cell division cycle 123							70.0	72.0	71.0					10																	12292308		2203	4300	6503	SO:0001630	splice_region_variant	8872				cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm		g.chr10:12292308A>G	BC001600	CCDS7090.1	10p13	2013-01-17	2013-01-17	2006-11-06	ENSG00000151465	ENSG00000151465			16827	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 7"", ""cell division cycle 123 homolog (S. cerevisiae)"""	C10orf7		15319434	Standard	NM_006023		Approved	D123	uc001ill.3	O75794	OTTHUMG00000017680	ENST00000281141.4:c.985-1A>G	10.37:g.12292308A>G						CDC123_uc001ilm.2_Splice_Site_p.K341_splice	p.K329_splice	NM_006023	NP_006014	O75794	CD123_HUMAN			13	1269	+								A8JZZ7|Q14107|Q5T0L4|Q5T0L5|Q5T0L7|Q5T0L8|Q5T0L9	Splice_Site	SNP	ENST00000281141.4	37	c.985_splice	CCDS7090.1	.	.	.	.	.	.	.	.	.	.	A	12.01	1.808930	0.31961	.	.	ENSG00000151465	ENST00000281141;ENST00000378900;ENST00000440613	.	.	.	5.43	4.27	0.50696	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.491	0.38960	0.8422:0.0:0.0:0.1578	.	.	.	.	.	-1	.	.	.	+	.	.	CDC123	12332314	1.000000	0.71417	0.992000	0.48379	0.361000	0.29550	5.039000	0.64185	0.856000	0.35383	0.533000	0.62120	.		0.502	CDC123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046801.1	NM_006023	Intron	10	39	0	0	0	0.001368	0	10	39				
SLC39A12	221074	broad.mit.edu	37	10	18292257	18292257	+	Silent	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr10:18292257G>T	ENST00000377369.2	+	12	2190	c.1917G>T	c.(1915-1917)ggG>ggT	p.G639G	SLC39A12-AS1_ENST00000445287.1_RNA|SLC39A12_ENST00000539911.1_Silent_p.G505G|SLC39A12_ENST00000377374.4_Silent_p.G602G|SLC39A12_ENST00000377371.3_Silent_p.G638G|SLC39A12-AS1_ENST00000439319.1_RNA	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	639					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TCACTGCTGGGATGTTCTTAT	0.373																																							uc001ipo.2		NA																	0				ovary(1)|breast(1)	2						c.(1915-1917)GGG>GGT		solute carrier family 39 (zinc transporter),							156.0	139.0	145.0					10																	18292257		2203	4300	6503	SO:0001819	synonymous_variant	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18292257G>T		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1917G>T	10.37:g.18292257G>T						SLC39A12_uc001ipn.2_Silent_p.G602G|SLC39A12_uc001ipp.2_Silent_p.G638G|SLC39A12_uc010qck.1_Silent_p.G505G|uc001ipq.1_RNA	p.G639G	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN			12	2190	+			639			Helical; (Potential).		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Silent	SNP	ENST00000377369.2	37	c.1917G>T	CCDS44362.1																																																																																				0.373	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		20	103	1	0	9.7654e-05	0.007413	0.000121134	20	103				
ADK	132	broad.mit.edu	37	10	76158301	76158301	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr10:76158301G>A	ENST00000286621.2	+	6	569	c.519G>A	c.(517-519)tgG>tgA	p.W173*	ADK_ENST00000539909.1_Nonsense_Mutation_p.W173*|ADK_ENST00000541550.1_Nonsense_Mutation_p.W138*|ADK_ENST00000372734.3_Nonsense_Mutation_p.W156*	NM_006721.3	NP_006712.2	P55263	ADK_HUMAN	adenosine kinase	173					adenosine metabolic process (GO:0046085)|AMP salvage (GO:0044209)|circadian regulation of gene expression (GO:0032922)|dATP biosynthetic process (GO:0006175)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of T cell proliferation (GO:0042102)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|ribonucleoside monophosphate biosynthetic process (GO:0009156)|small molecule metabolic process (GO:0044281)|type B pancreatic cell proliferation (GO:0044342)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenosine kinase activity (GO:0004001)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Abacavir(DB01048)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Ribavirin(DB00811)	AGAAAAACTGGATGTTGGTAG	0.328																																							uc001jwi.2		NA																	0				ovary(1)|skin(1)	2						c.(517-519)TGG>TGA		adenosine kinase isoform b	Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Pegademase bovine(DB00061)|Ribavirin(DB00811)						89.0	89.0	89.0					10																	76158301		2203	4298	6501	SO:0001587	stop_gained	132				purine base metabolic process|purine ribonucleoside salvage	cytosol	adenosine kinase activity|ATP binding|metal ion binding|phosphotransferase activity, alcohol group as acceptor	g.chr10:76158301G>A	U50196	CCDS7343.1, CCDS7344.1, CCDS55716.1, CCDS55717.1	10q22.2	2006-02-21			ENSG00000156110	ENSG00000156110	2.7.1.20		257	protein-coding gene	gene with protein product	"""adenosine 5'-phosphotransferase"""	102750				8577746	Standard	NM_001123		Approved	AK	uc001jwi.3	P55263	OTTHUMG00000018506	ENST00000286621.2:c.519G>A	10.37:g.76158301G>A	ENSP00000286621:p.Trp173*					ADK_uc010qlb.1_Nonsense_Mutation_p.W173*|ADK_uc001jwj.2_Nonsense_Mutation_p.W156*|ADK_uc010qlc.1_Nonsense_Mutation_p.W138*	p.W173*	NM_006721	NP_006712	P55263	ADK_HUMAN			6	591	+	Prostate(51;0.0112)|Ovarian(15;0.148)		173					B7Z783|B7Z800|O00741|O00742|Q16710|Q5JQ10|Q5JQ11|Q9BTN2	Nonsense_Mutation	SNP	ENST00000286621.2	37	c.519G>A	CCDS7343.1	.	.	.	.	.	.	.	.	.	.	G	34	5.351574	0.95830	.	.	ENSG00000156110	ENST00000539909;ENST00000286621;ENST00000372734;ENST00000541550	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.6274	19.8711	0.96851	0.0:0.0:1.0:0.0	.	.	.	.	X	173;173;156;138	.	ENSP00000286621:W173X	W	+	3	0	ADK	75828307	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	9.474000	0.97718	2.689000	0.91719	0.591000	0.81541	TGG		0.328	ADK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048763.1	NM_001123, NM_006721		3	30	0	0	0	0.009096	0	3	30				
VENTX	27287	broad.mit.edu	37	10	135053795	135053795	+	Silent	SNP	G	G	A	rs376398632|rs528996055		TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr10:135053795G>A	ENST00000325980.9	+	3	1273	c.762G>A	c.(760-762)acG>acA	p.T254T		NM_014468.3	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	254					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		TGCCACAGACGGGGGATGCAT	0.657																																							uc010quy.1		NA																	0					0						c.(760-762)ACG>ACA		VENT homeobox							16.0	18.0	17.0					10																	135053795		2026	4029	6055	SO:0001819	synonymous_variant	27287				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:135053795G>A	AF068006	CCDS7675.1	10q26.3	2011-06-20	2011-06-01	2005-09-27	ENSG00000151650	ENSG00000151650		"""Homeoboxes / ANTP class : NKL subclass"""	13639	protein-coding gene	gene with protein product		607158	"""VENT-like homeobox 2"", ""VENT homeobox homolog (Xenopus laevis)"""	VENTX2		10790436	Standard	NM_014468		Approved	HPX42B	uc010quy.1	O95231	OTTHUMG00000019307	ENST00000325980.9:c.762G>A	10.37:g.135053795G>A							p.T254T	NM_014468	NP_055283	O95231	VENTX_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)	3	773	+		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	254					Q32MZ3	Silent	SNP	ENST00000325980.9	37	c.762G>A	CCDS7675.1																																																																																				0.657	VENTX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051116.4	NM_014468		3	30	0	0	0	0.004672	0	3	30				
KRTAP5-2	440021	broad.mit.edu	37	11	1619623	1619623	+	5'Flank	SNP	C	C	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr11:1619623C>G	ENST00000412090.1	-	0	0				KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2							keratin filament (GO:0045095)				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACTGTTTACACTATTTTTCCA	0.448																																							uc009ycx.1		NA																	0					0						c.(721-723)CAC>CAG		SubName: Full=cDNA FLJ30579 fis, clone BRAWH2006989, weakly similar to DNA-DIRECTED RNA POLYMERASE II LARGEST SUBUNIT;          EC=2.7.7.6;																																				SO:0001631	upstream_gene_variant	338651							g.chr11:1619623C>G	AB126071	CCDS31331.1	11p15.5	2008-02-05				ENSG00000205867		"""Keratin associated proteins"""	23597	protein-coding gene	gene with protein product						15144888	Standard	NM_001004325		Approved	KRTAP5.2, KRTAP5-8	uc001ltv.3	Q701N4			11.37:g.1619623C>G	Exception_encountered					LOC338651_uc001ltt.1_RNA|KRTAP5-2_uc001ltv.2_5'Flank	p.H241Q	NR_021489						2	1474	+								A9JTZ1	Missense_Mutation	SNP	ENST00000412090.1	37	c.723C>G	CCDS31331.1																																																																																				0.448	KRTAP5-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384775.1	NM_001004325		5	38	0	0	0	0.000602	0	5	38				
OR52J3	119679	broad.mit.edu	37	11	5068356	5068356	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr11:5068356G>A	ENST00000380370.1	+	1	601	c.601G>A	c.(601-603)Ggg>Agg	p.G201R		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	201						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGTATCTATGGGCTTTTTGT	0.448																																							uc010qyv.1		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(601-603)GGG>AGG		olfactory receptor, family 52, subfamily J,							277.0	253.0	261.0					11																	5068356		2201	4298	6499	SO:0001583	missense	119679				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5068356G>A	AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"""GPCR / Class A : Olfactory receptors"""	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.601G>A	11.37:g.5068356G>A	ENSP00000369728:p.Gly201Arg						p.G201R	NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	601	+		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)	201			Helical; Name=5; (Potential).		Q6IFE4	Missense_Mutation	SNP	ENST00000380370.1	37	c.601G>A	CCDS31370.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.930475	0.34096	.	.	ENSG00000205495	ENST00000380370	T	0.00145	8.67	4.19	4.19	0.49359	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000217	T	0.00784	0.0026	H	0.98629	4.285	0.29913	N	0.823389	D	0.89917	1.0	D	0.97110	1.0	T	0.01982	-1.1235	10	0.87932	D	0	.	9.1132	0.36741	0.1013:0.0:0.8987:0.0	.	201	Q8NH60	O52J3_HUMAN	R	201	ENSP00000369728:G201R	ENSP00000369728:G201R	G	+	1	0	OR52J3	5024932	0.939000	0.31865	1.000000	0.80357	0.291000	0.27294	1.424000	0.34848	2.143000	0.66587	0.655000	0.94253	GGG		0.448	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916		18	102	0	0	0	0.007413	0	18	102				
SYT9	143425	broad.mit.edu	37	11	7441739	7441739	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr11:7441739T>A	ENST00000318881.6	+	6	1577	c.1340T>A	c.(1339-1341)gTa>gAa	p.V447E		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	447	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TTTCACAGTGTAGGTCACAAT	0.433																																							uc001mfe.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(1339-1341)GTA>GAA		synaptotagmin IX							148.0	132.0	137.0					11																	7441739		2201	4296	6497	SO:0001583	missense	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7441739T>A	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.1340T>A	11.37:g.7441739T>A	ENSP00000324419:p.Val447Glu					SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_RNA	p.V447E	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	6	1577	+			447			Cytoplasmic (Potential).|C2 2.			Missense_Mutation	SNP	ENST00000318881.6	37	c.1340T>A	CCDS7778.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.389692	0.82902	.	.	ENSG00000170743	ENST00000318881	T	0.72725	-0.68	5.64	4.51	0.55191	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.51477	D	0.000094	T	0.74412	0.3713	L	0.42686	1.345	0.80722	D	1	P	0.40834	0.73	P	0.55391	0.775	T	0.74774	-0.3551	10	0.72032	D	0.01	.	9.8289	0.40930	0.0:0.0815:0.0:0.9185	.	447	Q86SS6	SYT9_HUMAN	E	447	ENSP00000324419:V447E	ENSP00000324419:V447E	V	+	2	0	SYT9	7398315	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.292000	0.72725	0.964000	0.38108	0.533000	0.62120	GTA		0.433	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		12	79	0	0	0	0.001855	0	12	79				
NLRP10	338322	broad.mit.edu	37	11	7981383	7981383	+	Silent	SNP	A	A	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr11:7981383A>G	ENST00000328600.2	-	2	1937	c.1776T>C	c.(1774-1776)aaT>aaC	p.N592N		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	592					defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATTTCTTTTCATTTGAATGTT	0.373																																							uc001mfv.1		NA																	0				lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9						c.(1774-1776)AAT>AAC		NLR family, pyrin domain containing 10							78.0	74.0	75.0					11																	7981383		2201	4295	6496	SO:0001819	synonymous_variant	338322						ATP binding	g.chr11:7981383A>G	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1776T>C	11.37:g.7981383A>G							p.N592N	NM_176821	NP_789791	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	1793	-			592					Q2M3C4|Q6JGT0	Silent	SNP	ENST00000328600.2	37	c.1776T>C	CCDS7784.1																																																																																				0.373	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		6	41	0	0	0	0.001984	0	6	41				
ANO3	63982	broad.mit.edu	37	11	26677945	26677945	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr11:26677945C>A	ENST00000256737.3	+	26	3532	c.2680C>A	c.(2680-2682)Ccc>Acc	p.P894T	ANO3_ENST00000525139.1_Missense_Mutation_p.P878T|ANO3_ENST00000537978.1_Missense_Mutation_p.P878T|ANO3_ENST00000531568.1_Missense_Mutation_p.P748T	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	894					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CAGAGGCCCGCCCTGGAGTTC	0.413																																							uc001mqt.3		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(2680-2682)CCC>ACC		transmembrane protein 16C							151.0	153.0	153.0					11																	26677945		2203	4299	6502	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26677945C>A	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.2680C>A	11.37:g.26677945C>A	ENSP00000256737:p.Pro894Thr					ANO3_uc010rdr.1_Missense_Mutation_p.P878T|ANO3_uc010rds.1_Missense_Mutation_p.P733T|ANO3_uc010rdt.1_Missense_Mutation_p.P748T	p.P894T	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN			26	2825	+			894			Extracellular (Potential).		B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.2680C>A	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621690	0.87460	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.76968	-1.05;-1.05;-1.06;-0.9	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.88797	0.6534	M	0.78223	2.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89792	0.3969	10	0.87932	D	0	.	19.2586	0.93957	0.0:1.0:0.0:0.0	.	796;894	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	T	878;878;894;796;748	ENSP00000440737:P878T;ENSP00000432576:P878T;ENSP00000256737:P894T;ENSP00000432394:P748T	ENSP00000256737:P894T	P	+	1	0	ANO3	26634521	1.000000	0.71417	0.987000	0.45799	0.887000	0.51463	7.783000	0.85696	2.544000	0.85801	0.650000	0.86243	CCC		0.413	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		17	91	1	0	8.28177e-16	0.007413	1.46872e-15	17	91				
LOC440040	440040	broad.mit.edu	37	11	49597897	49597897	+	RNA	SNP	G	G	T	rs267602931		TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr11:49597897G>T	ENST00000527477.1	+	0	501																											CATGCTGGGTGACATCATTAT	0.498																																							uc010rhy.1		NA																	0					0						c.(10-12)GAC>TAC		SubName: Full=cDNA FLJ60249, highly similar to Metabotropic glutamate receptor 5;																																						440040							g.chr11:49597897G>T																													11.37:g.49597897G>T						LOC440040_uc009ymb.2_Missense_Mutation_p.D4Y	p.D4Y	NR_027044						2	488	+									Missense_Mutation	SNP	ENST00000527477.1	37	c.10G>T																																																																																					0.498	RP11-707M1.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000391378.2			10	37	1	0	0.000673444	0.008291	0.000783958	10	37				
OR5T3	390154	broad.mit.edu	37	11	56020007	56020007	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr11:56020007T>C	ENST00000303059.3	+	1	332	c.332T>C	c.(331-333)aTg>aCg	p.M111T		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	111						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ACTCCAAAAATGTTGGTCAAT	0.358																																							uc010rjd.1		NA																	0					0						c.(331-333)ATG>ACG		olfactory receptor, family 5, subfamily T,							126.0	126.0	126.0					11																	56020007		2201	4296	6497	SO:0001583	missense	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020007T>C	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.332T>C	11.37:g.56020007T>C	ENSP00000305403:p.Met111Thr						p.M111T	NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN			1	332	+	Esophageal squamous(21;0.00448)		111			Extracellular (Potential).		Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	c.332T>C	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	t	3.809	-0.040064	0.07497	.	.	ENSG00000172489	ENST00000303059	T	0.05996	3.36	4.55	4.55	0.56014	GPCR, rhodopsin-like superfamily (1);	0.106745	0.41097	U	0.000942	T	0.09686	0.0238	M	0.64080	1.96	0.09310	N	1	P	0.35944	0.529	B	0.38921	0.285	T	0.13019	-1.0525	10	0.56958	D	0.05	.	9.7433	0.40431	0.0:0.0858:0.0:0.9142	.	111	Q8NGG3	OR5T3_HUMAN	T	111	ENSP00000305403:M111T	ENSP00000305403:M111T	M	+	2	0	OR5T3	55776583	0.001000	0.12720	0.132000	0.22025	0.073000	0.16967	1.064000	0.30579	2.031000	0.59945	0.523000	0.50628	ATG		0.358	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		22	135	0	0	0	0.002299	0	22	135				
OR9Q1	219956	broad.mit.edu	37	11	57947368	57947368	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr11:57947368C>A	ENST00000335397.3	+	3	768	c.452C>A	c.(451-453)gCt>gAt	p.A151D		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				GCTTACGTTGCTGGTCTCATC	0.547																																							uc001nmj.2		NA																	0				ovary(1)	1						c.(451-453)GCT>GAT		olfactory receptor, family 9, subfamily Q,							105.0	82.0	90.0					11																	57947368		2201	4296	6497	SO:0001583	missense	219956				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57947368C>A	AB065734	CCDS31543.1	11q12.1	2012-08-09				ENSG00000186509		"""GPCR / Class A : Olfactory receptors"""	14724	protein-coding gene	gene with protein product							Standard	NM_001005212		Approved		uc001nmj.3	Q8NGQ5		ENST00000335397.3:c.452C>A	11.37:g.57947368C>A	ENSP00000334934:p.Ala151Asp						p.A151D	NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN			3	768	+		Breast(21;0.222)	151			Helical; Name=4; (Potential).		Q2TAN3|Q96RA7	Missense_Mutation	SNP	ENST00000335397.3	37	c.452C>A	CCDS31543.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.360769	0.24598	.	.	ENSG00000186509	ENST00000335397	T	0.38560	1.13	4.83	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.143361	0.31909	N	0.006864	T	0.61085	0.2319	M	0.79805	2.47	0.09310	N	1	D	0.89917	1.0	D	0.76575	0.988	T	0.51236	-0.8731	10	0.49607	T	0.09	-16.0765	8.8045	0.34929	0.0:0.6875:0.2269:0.0856	.	151	Q8NGQ5	OR9Q1_HUMAN	D	151	ENSP00000334934:A151D	ENSP00000334934:A151D	A	+	2	0	OR9Q1	57703944	0.000000	0.05858	0.765000	0.31456	0.054000	0.15201	-0.678000	0.05209	2.674000	0.91012	0.491000	0.48974	GCT		0.547	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394538.2	NM_001005212		8	55	1	0	5.4927e-09	0.004482	8.59892e-09	8	55				
LRRC32	2615	broad.mit.edu	37	11	76372160	76372160	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr11:76372160G>T	ENST00000407242.2	-	3	719	c.477C>A	c.(475-477)aaC>aaA	p.N159K	LRRC32_ENST00000404995.1_Missense_Mutation_p.N159K|LRRC32_ENST00000260061.5_Missense_Mutation_p.N159K|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	159					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GAGTCAGACTGTTCTCCGCCA	0.642																																							uc001oxq.3		NA																	0					0						c.(475-477)AAC>AAA		leucine rich repeat containing 32 precursor							69.0	70.0	70.0					11																	76372160		2200	4292	6492	SO:0001583	missense	2615					integral to plasma membrane		g.chr11:76372160G>T	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.477C>A	11.37:g.76372160G>T	ENSP00000384126:p.Asn159Lys					LRRC32_uc001oxr.3_Missense_Mutation_p.N159K|LRRC32_uc010rsf.1_Missense_Mutation_p.N159K	p.N159K	NM_005512	NP_005503	Q14392	LRC32_HUMAN			3	720	-			159			Extracellular (Potential).|LRR 5.		Q86V06	Missense_Mutation	SNP	ENST00000407242.2	37	c.477C>A	CCDS8245.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.391341	0.62066	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995;ENST00000421973	T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.32	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	D	0.91516	0.7321	H	0.99425	4.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93538	0.6875	10	0.87932	D	0	.	11.0604	0.47944	0.0847:0.0:0.9153:0.0	.	159;159	C9JYU3;Q14392	.;LRC32_HUMAN	K	159	ENSP00000260061:N159K;ENSP00000384126:N159K;ENSP00000385766:N159K;ENSP00000413331:N159K	ENSP00000260061:N159K	N	-	3	2	LRRC32	76049808	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	5.382000	0.66213	2.375000	0.81037	0.561000	0.74099	AAC		0.642	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		8	40	1	0	3.09899e-07	0.004482	4.45234e-07	8	40				
CCDC89	220388	broad.mit.edu	37	11	85396655	85396655	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr11:85396655C>A	ENST00000316398.3	-	1	665	c.519G>T	c.(517-519)gaG>gaT	p.E173D	CREBZF_ENST00000534224.1_5'Flank|CREBZF_ENST00000531515.1_5'Flank	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	173						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				ATACTTTCGCCTCCTCATCCT	0.552																																							uc001pau.1		NA																	0					0						c.(517-519)GAG>GAT		coiled-coil domain containing 89							111.0	102.0	105.0					11																	85396655		2203	4299	6502	SO:0001583	missense	220388					cytoplasm|nucleus		g.chr11:85396655C>A	AK095478	CCDS8270.1	11q14.1	2006-03-16			ENSG00000179071	ENSG00000179071			26762	protein-coding gene	gene with protein product						12477932	Standard	NM_152723		Approved	FLJ38159	uc001pau.1	Q8N998	OTTHUMG00000166976	ENST00000316398.3:c.519G>T	11.37:g.85396655C>A	ENSP00000320649:p.Glu173Asp						p.E173D	NM_152723	NP_689936	Q8N998	CCD89_HUMAN			1	666	-		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	173			Potential.			Missense_Mutation	SNP	ENST00000316398.3	37	c.519G>T	CCDS8270.1	.	.	.	.	.	.	.	.	.	.	c	12.68	2.011991	0.35511	.	.	ENSG00000179071	ENST00000316398	.	.	.	5.79	1.9	0.25705	.	0.257566	0.37809	N	0.001924	T	0.48607	0.1509	L	0.52126	1.63	0.40735	D	0.98278	P	0.49559	0.925	P	0.46758	0.526	T	0.40059	-0.9583	8	.	.	.	-16.8894	9.8821	0.41240	0.0:0.5295:0.0:0.4705	.	173	Q8N998	CCD89_HUMAN	D	173	.	.	E	-	3	2	CCDC89	85074303	0.997000	0.39634	0.953000	0.39169	0.274000	0.26718	0.610000	0.24253	0.106000	0.17784	-0.141000	0.14075	GAG		0.552	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392182.1	NM_152723		21	105	1	0	8.10497e-08	0.010504	1.21041e-07	21	105				
FAT3	120114	broad.mit.edu	37	11	92087327	92087327	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr11:92087327C>A	ENST00000298047.6	+	1	2066	c.2049C>A	c.(2047-2049)tgC>tgA	p.C683*	FAT3_ENST00000525166.1_Nonsense_Mutation_p.C533*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.C683*|FAT3_ENST00000541502.1_Nonsense_Mutation_p.C683*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	683					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCTTCAGTTGCAGAGAAACTC	0.413										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(2047-2049)TGC>TGA		FAT tumor suppressor homolog 3							92.0	92.0	92.0					11																	92087327		1854	4095	5949	SO:0001587	stop_gained	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92087327C>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.2049C>A	11.37:g.92087327C>A	ENSP00000298047:p.Cys683*	TCGA Ovarian(4;0.039)					p.C683*	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			1	2066	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	683			Extracellular (Potential).		B5MDB0|Q96AU6	Nonsense_Mutation	SNP	ENST00000298047.6	37	c.2049C>A		.	.	.	.	.	.	.	.	.	.	C	37	6.521663	0.97633	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	.	.	.	5.47	2.15	0.27550	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.5075	0.39056	0.0:0.6218:0.0:0.3782	.	.	.	.	X	683;683;683;533	.	ENSP00000298047:C683X	C	+	3	2	FAT3	91726975	0.994000	0.37717	1.000000	0.80357	0.928000	0.56348	0.539000	0.23175	0.692000	0.31613	0.467000	0.42956	TGC		0.413	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		12	62	1	0	7.93312e-07	0.00245	1.1048e-06	12	62				
CDON	50937	broad.mit.edu	37	11	125887047	125887047	+	Silent	SNP	A	A	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr11:125887047A>G	ENST00000392693.3	-	6	991	c.864T>C	c.(862-864)taT>taC	p.Y288Y	CDON_ENST00000263577.7_Silent_p.Y288Y	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	288	Ig-like C2-type 3.				anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		CCATGCAGGAATAGTTTCCGG	0.438																																							uc009zbw.2		NA																	0				ovary(3)|skin(2)|breast(1)	6						c.(862-864)TAT>TAC		surface glycoprotein, Ig superfamily member							80.0	77.0	78.0					11																	125887047		2201	4299	6500	SO:0001819	synonymous_variant	50937				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding	g.chr11:125887047A>G	AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.864T>C	11.37:g.125887047A>G						CDON_uc001qdc.3_Silent_p.Y288Y|CDON_uc001qdd.3_RNA|CDON_uc009zbx.2_Silent_p.Y288Y	p.Y288Y	NM_016952	NP_058648	Q4KMG0	CDON_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)	6	992	-	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	288			Extracellular (Potential).|Ig-like C2-type 3.		O14631	Silent	SNP	ENST00000392693.3	37	c.864T>C	CCDS58192.1	.	.	.	.	.	.	.	.	.	.	A	6.524	0.464918	0.12402	.	.	ENSG00000064309	ENST00000534661	.	.	.	5.06	-4.57	0.03421	.	.	.	.	.	T	0.68054	0.2959	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69269	-0.5189	4	.	.	.	-21.3361	18.4263	0.90610	0.186:0.0:0.814:0.0	.	.	.	.	L	264	.	.	F	-	1	0	CDON	125392257	0.604000	0.26932	0.952000	0.39060	0.603000	0.37013	-0.424000	0.07025	-0.852000	0.04141	0.460000	0.39030	TTC		0.438	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952		4	33	0	0	0	0.000602	0	4	33				
PRMT8	56341	broad.mit.edu	37	12	3662861	3662861	+	Silent	SNP	G	G	A	rs267603447		TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr12:3662861G>A	ENST00000382622.3	+	4	852	c.462G>A	c.(460-462)aaG>aaA	p.K154K	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Silent_p.K145K	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	154	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			AGATCATTAAGGCCAACCACT	0.478																																							uc001qmf.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(460-462)AAG>AAA		HMT1 hnRNP methyltransferase-like 4							123.0	111.0	115.0					12																	3662861		2203	4300	6503	SO:0001819	synonymous_variant	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3662861G>A	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.462G>A	12.37:g.3662861G>A						PRMT8_uc009zed.2_Silent_p.K145K|PRMT8_uc009zee.1_RNA	p.K154K	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		4	829	+			154					B2RDP0|Q8TBJ8	Silent	SNP	ENST00000382622.3	37	c.462G>A	CCDS8521.2																																																																																				0.478	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		16	81	0	0	0	0.004007	0	16	81				
PDE3A	5139	broad.mit.edu	37	12	20833070	20833070	+	Silent	SNP	A	A	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr12:20833070A>T	ENST00000359062.3	+	16	3331	c.3291A>T	c.(3289-3291)gcA>gcT	p.A1097A	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1097					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	AACGGTTGGCAGGCATAGAAA	0.448																																							uc001reh.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(3289-3291)GCA>GCT		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						109.0	106.0	107.0					12																	20833070		2203	4300	6503	SO:0001819	synonymous_variant	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20833070A>T		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.3291A>T	12.37:g.20833070A>T							p.A1097A	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			16	3313	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	1097					O60865|Q13348|Q17RD1	Silent	SNP	ENST00000359062.3	37	c.3291A>T	CCDS31754.1																																																																																				0.448	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			6	86	0	0	0	0.001168	0	6	86				
SOX5	6660	broad.mit.edu	37	12	23728634	23728634	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr12:23728634C>A	ENST00000451604.2	-	10	1404	c.1303G>T	c.(1303-1305)Gca>Tca	p.A435S	SOX5_ENST00000545921.1_Missense_Mutation_p.A425S|SOX5_ENST00000381381.2_Intron|SOX5_ENST00000396007.2_Missense_Mutation_p.A49S|SOX5_ENST00000537393.1_Missense_Mutation_p.A400S|SOX5_ENST00000541536.1_Intron|SOX5_ENST00000309359.1_Missense_Mutation_p.A422S|SOX5_ENST00000546136.1_Missense_Mutation_p.A422S			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	435					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GCTAACGCTGCTGGGACAGAG	0.478																																							uc001rfw.2		NA																	0				ovary(5)|lung(1)	6						c.(1303-1305)GCA>TCA		SRY (sex determining region Y)-box 5 isoform a							132.0	133.0	133.0					12																	23728634		2203	4300	6503	SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23728634C>A	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.1303G>T	12.37:g.23728634C>A	ENSP00000398273:p.Ala435Ser					SOX5_uc001rfx.2_Missense_Mutation_p.A422S|SOX5_uc001rfy.2_Intron|SOX5_uc001rfv.2_Missense_Mutation_p.A49S|SOX5_uc010siv.1_Missense_Mutation_p.A422S|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.A387S	p.A435S	NM_006940	NP_008871	P35711	SOX5_HUMAN			10	1405	-			435					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	c.1303G>T	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	C	9.622	1.133984	0.21123	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000396007;ENST00000545921	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97	5.52	5.52	0.82312	.	0.112992	0.64402	D	0.000008	T	0.12433	0.0302	N	0.00289	-1.7	0.80722	D	1	B;B;B	0.12013	0.001;0.002;0.005	B;B;B	0.15484	0.004;0.004;0.013	T	0.40683	-0.9550	10	0.02654	T	1	.	17.6208	0.88080	0.0:1.0:0.0:0.0	.	400;435;49	F5H0I3;P35711;P35711-3	.;SOX5_HUMAN;.	S	422;422;435;387;400;49;425	ENSP00000437487:A422S;ENSP00000308927:A422S;ENSP00000398273:A435S;ENSP00000439832:A400S;ENSP00000379328:A49S;ENSP00000443520:A425S	ENSP00000308927:A422S	A	-	1	0	SOX5	23619901	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.868000	0.56055	2.605000	0.88082	0.591000	0.81541	GCA		0.478	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		14	232	1	0	2.32078e-09	0.003163	3.70999e-09	14	232				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	G	rs121913529		TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr12:25398284C>G	ENST00000256078.4	-	2	98	c.35G>C	c.(34-36)gGt>gCt	p.G12A	KRAS_ENST00000311936.3_Missense_Mutation_p.G12A|KRAS_ENST00000557334.1_Missense_Mutation_p.G12A|KRAS_ENST00000556131.1_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		24	23	0	0	0	0.005443	0	24	23				
OR8S1	341568	broad.mit.edu	37	12	48919740	48919741	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr12:48919740_48919741GG>TT	ENST00000310194.1	+	1	326_327	c.326_327GG>TT	c.(325-327)gGG>gTT	p.G109V	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G109E(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						GTCACTGCAGGGACTGAAGCCT	0.525																																							uc010slu.1		NA																	1	Substitution - Missense(1)		skin(1)	skin(1)	1						c.(325-327)GGG>GTT		olfactory receptor, family 8, subfamily S,																																				SO:0001583	missense	341568				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:48919740_48919741GG>TT		CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"""GPCR / Class A : Olfactory receptors"""	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		Exception_encountered	12.37:g.48919740_48919741delinsTT	ENSP00000310632:p.Gly109Val						p.G109V	NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN			1	326_327	+			109			Helical; Name=3; (Potential).			Missense_Mutation	DNP	ENST00000310194.1	37	c.326_327GG>TT	CCDS31789.1																																																																																				0.525	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406881.1			12	72	0	0	0	0.004672	0	12	72				
DGKA	1606	broad.mit.edu	37	12	56334126	56334126	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr12:56334126G>T	ENST00000331886.5	+	11	1281	c.827G>T	c.(826-828)gGc>gTc	p.G276V	DGKA_ENST00000394147.1_Missense_Mutation_p.G276V|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Missense_Mutation_p.G276V	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	276					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	GTGCGAGGAGGCTGTGAGTCC	0.597											OREG0021913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001sij.2		NA																	0				ovary(3)|pancreas(1)	4						c.(826-828)GGC>GTC		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)						121.0	113.0	116.0					12																	56334126		2203	4300	6503	SO:0001583	missense	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56334126G>T	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.827G>T	12.37:g.56334126G>T	ENSP00000328405:p.Gly276Val		OREG0021913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014	DGKA_uc009zoc.1_Missense_Mutation_p.G276V|DGKA_uc001sih.1_Missense_Mutation_p.G164V|DGKA_uc001sii.1_Missense_Mutation_p.G134V|DGKA_uc009zod.1_Missense_Mutation_p.G195V|DGKA_uc009zoe.1_3'UTR|DGKA_uc001sik.2_Missense_Mutation_p.G276V|DGKA_uc001sil.2_Missense_Mutation_p.G276V|DGKA_uc001sim.2_Missense_Mutation_p.G276V|DGKA_uc001sin.2_Missense_Mutation_p.G276V|DGKA_uc009zof.2_5'UTR|DGKA_uc001sio.2_Missense_Mutation_p.G18V	p.G276V	NM_001345	NP_001336	P23743	DGKA_HUMAN			11	1091	+			276			Phorbol-ester/DAG-type 2.		O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Missense_Mutation	SNP	ENST00000331886.5	37	c.827G>T	CCDS8896.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607091	0.66558	.	.	ENSG00000065357	ENST00000331886;ENST00000555218;ENST00000394147;ENST00000551156	D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1	5.21	5.21	0.72293	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.165945	0.53938	D	0.000057	D	0.91781	0.7400	N	0.14661	0.345	0.80722	D	1	P;D;D	0.71674	0.929;0.998;0.984	P;D;D	0.63703	0.649;0.915;0.917	D	0.93208	0.6597	10	0.87932	D	0	.	18.063	0.89383	0.0:0.0:1.0:0.0	.	195;276;276	G3V4E1;B4E0C6;P23743	.;.;DGKA_HUMAN	V	276;195;276;276	ENSP00000328405:G276V;ENSP00000451743:G195V;ENSP00000377703:G276V;ENSP00000450359:G276V	ENSP00000328405:G276V	G	+	2	0	DGKA	54620393	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	5.663000	0.68038	2.871000	0.98454	0.655000	0.94253	GGC		0.597	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			8	111	1	0	0.000157383	0.00308	0.000191048	8	111				
GLIPR1L2	144321	broad.mit.edu	37	12	75804431	75804431	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr12:75804431G>T	ENST00000550916.1	+	2	499	c.452G>T	c.(451-453)tGc>tTc	p.C151F	GLIPR1L2_ENST00000378692.3_Missense_Mutation_p.C44F|GLIPR1L2_ENST00000435775.1_Missense_Mutation_p.C151F|GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.C151F|GLIPR1L2_ENST00000441218.1_Missense_Mutation_p.C86F|GLIPR1L2_ENST00000547164.1_Missense_Mutation_p.C151F	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	151	SCP.					integral component of membrane (GO:0016021)				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						AATGGCAGTTGCTCTGGAGAC	0.313																																							uc001sxr.1		NA																	0				ovary(1)	1						c.(451-453)TGC>TTC		GLI pathogenesis-related 1 like 2							54.0	56.0	55.0					12																	75804431		2202	4299	6501	SO:0001583	missense	144321					integral to membrane		g.chr12:75804431G>T	BC029557	CCDS9010.1, CCDS58258.1	12q21.1	2014-06-03				ENSG00000180481			28592	protein-coding gene	gene with protein product		610394				12477932	Standard	NM_001270396		Approved	MGC39497	uc001sxr.2	Q4G1C9	OTTHUMG00000169756	ENST00000550916.1:c.452G>T	12.37:g.75804431G>T	ENSP00000448248:p.Cys151Phe					GLIPR1L2_uc001sxp.1_Missense_Mutation_p.C151F|GLIPR1L2_uc001sxq.1_Missense_Mutation_p.C44F	p.C151F	NM_152436	NP_689649	Q4G1C9	GRPL2_HUMAN			2	460	+			151					Q6MZS1|Q8N6N0|Q8NA43	Missense_Mutation	SNP	ENST00000550916.1	37	c.452G>T	CCDS58258.1	.	.	.	.	.	.	.	.	.	.	g	18.00	3.524365	0.64747	.	.	ENSG00000180481	ENST00000550916;ENST00000435775;ENST00000378692;ENST00000320460;ENST00000547164;ENST00000441218	T;T;T;T;T;T	0.10763	3.23;2.84;3.23;3.23;2.84;3.23	4.95	4.05	0.47172	CAP domain (3);	0.054624	0.85682	D	0.000000	T	0.30070	0.0753	M	0.75615	2.305	0.25333	N	0.989017	D;D	0.76494	0.967;0.999	P;D	0.74348	0.762;0.983	T	0.05115	-1.0905	10	0.72032	D	0.01	.	10.8772	0.46917	0.0901:0.0:0.9099:0.0	.	151;151	Q4G1C9;Q4G1C9-2	GRPL2_HUMAN;.	F	151;151;44;151;151;86	ENSP00000448248:C151F;ENSP00000398328:C151F;ENSP00000367963:C44F;ENSP00000317385:C151F;ENSP00000447980:C151F;ENSP00000405273:C86F	ENSP00000317385:C151F	C	+	2	0	GLIPR1L2	74090698	1.000000	0.71417	0.064000	0.19789	0.589000	0.36550	4.435000	0.59941	1.285000	0.44548	0.486000	0.48141	TGC		0.313	GLIPR1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405718.1	NM_152436		7	40	1	0	2.0095e-06	0.001984	2.73147e-06	7	40				
ALX1	8092	broad.mit.edu	37	12	85677595	85677595	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr12:85677595G>T	ENST00000316824.3	+	2	627	c.472G>T	c.(472-474)Gat>Tat	p.D158Y		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	158					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		TCATTACCCGGATGTGTATGT	0.498																																							uc001tae.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(472-474)GAT>TAT		cartilage paired-class homeoprotein 1							112.0	114.0	113.0					12																	85677595		2203	4300	6503	SO:0001583	missense	8092				brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:85677595G>T	U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"""Homeoboxes / PRD class"""	1494	protein-coding gene	gene with protein product		601527	"""cartilage paired-class homeoprotein 1"""	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.472G>T	12.37:g.85677595G>T	ENSP00000315417:p.Asp158Tyr						p.D158Y	NM_006982	NP_008913	Q15699	ALX1_HUMAN		GBM - Glioblastoma multiforme(134;0.134)	2	476	+			158			Homeobox.		Q546C8|Q96FH4	Missense_Mutation	SNP	ENST00000316824.3	37	c.472G>T	CCDS9028.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678764	0.88542	.	.	ENSG00000180318	ENST00000316824	D	0.96073	-3.9	5.63	5.63	0.86233	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99067	0.9680	H	0.99842	4.835	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.98691	1.0696	10	0.87932	D	0	.	20.0401	0.97581	0.0:0.0:1.0:0.0	.	158	Q15699	ALX1_HUMAN	Y	158	ENSP00000315417:D158Y	ENSP00000315417:D158Y	D	+	1	0	ALX1	84201726	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	9.813000	0.99286	2.805000	0.96524	0.655000	0.94253	GAT		0.498	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982		13	103	1	0	4.14922e-12	0.004007	6.97683e-12	13	103				
SLC5A8	160728	broad.mit.edu	37	12	101573839	101573839	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr12:101573839C>A	ENST00000536262.2	-	10	1759	c.1201G>T	c.(1201-1203)Gcg>Tcg	p.A401S		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GACGCCAGCGCAGCCATTCCA	0.428																																					GBM(60;420 1056 13605 22380 47675)	GBM(60;420 1056 13605 22380 47675)	uc001thz.3		NA																	0					0						c.(1201-1203)GCG>TCG		solute carrier family 5 (iodide transporter),							169.0	167.0	167.0					12																	101573839		2203	4300	6503	SO:0001583	missense	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101573839C>A	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.1201G>T	12.37:g.101573839C>A	ENSP00000445340:p.Ala401Ser						p.A401S	NM_145913	NP_666018	Q8N695	SC5A8_HUMAN			10	1591	-			401			Helical; (Potential).			Missense_Mutation	SNP	ENST00000536262.2	37	c.1201G>T	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.303528	0.60195	.	.	ENSG00000256870	ENST00000536262	D	0.88201	-2.35	5.85	5.85	0.93711	.	0.114043	0.64402	D	0.000010	D	0.86863	0.6035	L	0.41573	1.285	0.44611	D	0.997581	B	0.33171	0.4	B	0.37833	0.259	T	0.82959	-0.0198	10	0.22109	T	0.4	.	19.7509	0.96268	0.0:1.0:0.0:0.0	.	401	Q8N695	SC5A8_HUMAN	S	401	ENSP00000445340:A401S	ENSP00000445340:A401S	A	-	1	0	SLC5A8	100097970	1.000000	0.71417	0.994000	0.49952	0.483000	0.33249	6.491000	0.73649	2.770000	0.95276	0.650000	0.86243	GCG		0.428	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		10	118	1	0	0.000151284	0.001855	0.000186639	10	118				
RBM19	9904	broad.mit.edu	37	12	114362517	114362517	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr12:114362517T>A	ENST00000545145.2	-	18	2368	c.2290A>T	c.(2290-2292)Aag>Tag	p.K764*	RBM19_ENST00000261741.5_Nonsense_Mutation_p.K764*|RBM19_ENST00000392561.3_Nonsense_Mutation_p.K764*	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	764	RRM 5. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TTGTTCTTCTTCTTGGAGATG	0.448																																							uc009zwi.2		NA																	0				skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6						c.(2290-2292)AAG>TAG		RNA binding motif protein 19							189.0	183.0	185.0					12																	114362517		2203	4300	6503	SO:0001587	stop_gained	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114362517T>A	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.2290A>T	12.37:g.114362517T>A	ENSP00000442053:p.Lys764*					RBM19_uc001tvn.3_Nonsense_Mutation_p.K764*|RBM19_uc001tvm.2_Nonsense_Mutation_p.K764*	p.K764*	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN			18	2434	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		764			RRM 5.		A8K5X9|Q9BPY6|Q9UFN5	Nonsense_Mutation	SNP	ENST00000545145.2	37	c.2290A>T	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	T	38	7.250838	0.98164	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	.	.	.	5.74	5.74	0.90152	.	0.046798	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-35.3747	13.404	0.60900	0.0:0.0:0.0:1.0	.	.	.	.	X	764	.	ENSP00000261741:K764X	K	-	1	0	RBM19	112846900	1.000000	0.71417	0.998000	0.56505	0.092000	0.18411	6.120000	0.71596	2.191000	0.70037	0.533000	0.62120	AAG		0.448	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		17	105	0	0	0	0.006122	0	17	105				
PIWIL1	9271	broad.mit.edu	37	12	130840124	130840124	+	Missense_Mutation	SNP	G	G	A	rs552222799		TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr12:130840124G>A	ENST00000245255.3	+	12	1588	c.1316G>A	c.(1315-1317)cGa>cAa	p.R439Q		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	439					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		AGGGAGCTTCGAGACTGGGGT	0.393																																							uc001uik.2		NA																	0				ovary(2)	2						c.(1315-1317)CGA>CAA		piwi-like 1							205.0	213.0	210.0					12																	130840124		2203	4300	6503	SO:0001583	missense	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130840124G>A	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.1316G>A	12.37:g.130840124G>A	ENSP00000245255:p.Arg439Gln					PIWIL1_uc001uij.1_Missense_Mutation_p.R439Q	p.R439Q	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	12	1406	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		439					A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.1316G>A	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560781	0.27827	.	.	ENSG00000125207	ENST00000245255	T	0.04083	3.71	5.48	4.59	0.56863	Ribonuclease H-like (1);	0.462111	0.24573	N	0.037365	T	0.03011	0.0089	N	0.16130	0.375	0.29383	N	0.863148	B;B	0.25235	0.007;0.121	B;B	0.16722	0.004;0.016	T	0.36163	-0.9759	10	0.18276	T	0.48	-10.8483	9.5798	0.39481	0.1581:0.0:0.8419:0.0	.	439;439	Q96J94;Q96J94-2	PIWL1_HUMAN;.	Q	439	ENSP00000245255:R439Q	ENSP00000245255:R439Q	R	+	2	0	PIWIL1	129406077	0.996000	0.38824	0.999000	0.59377	0.996000	0.88848	2.852000	0.48310	1.322000	0.45245	0.650000	0.86243	CGA		0.393	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			7	196	0	0	0	0.004482	0	7	196				
ULK1	8408	broad.mit.edu	37	12	132393327	132393327	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr12:132393327G>T	ENST00000321867.4	+	6	806	c.455G>T	c.(454-456)cGc>cTc	p.R152L		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	152	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CCCGCCGGCCGCCGCGCCAAC	0.721																																							uc001uje.2		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(454-456)CGC>CTC		Unc-51-like kinase 1							19.0	23.0	22.0					12																	132393327		2193	4286	6479	SO:0001583	missense	8408				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	g.chr12:132393327G>T	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.455G>T	12.37:g.132393327G>T	ENSP00000324560:p.Arg152Leu						p.R152L	NM_003565	NP_003556	O75385	ULK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)	6	723	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		152			Protein kinase.		Q9UQ28	Missense_Mutation	SNP	ENST00000321867.4	37	c.455G>T	CCDS9274.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471214	0.63625	.	.	ENSG00000177169	ENST00000321867;ENST00000537421;ENST00000542313	T;T;T	0.61859	0.07;0.07;0.07	5.51	5.51	0.81932	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.45696	0.1355	N	0.17278	0.47	0.80722	D	1	B	0.28760	0.221	B	0.33690	0.168	T	0.49597	-0.8923	10	0.72032	D	0.01	-42.7706	13.6892	0.62535	0.074:0.0:0.926:0.0	.	152	O75385	ULK1_HUMAN	L	152;69;46	ENSP00000324560:R152L;ENSP00000438953:R69L;ENSP00000444983:R46L	ENSP00000324560:R152L	R	+	2	0	ULK1	130959280	1.000000	0.71417	0.852000	0.33557	0.862000	0.49288	4.568000	0.60857	2.593000	0.87608	0.455000	0.32223	CGC		0.721	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3			5	26	1	0	0.00116845	0.001168	0.00133958	5	26				
SACS	26278	broad.mit.edu	37	13	23909100	23909100	+	Missense_Mutation	SNP	G	G	T	rs368927268		TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr13:23909100G>T	ENST00000382292.3	-	9	9188	c.8915C>A	c.(8914-8916)cCa>cAa	p.P2972Q	SACS_ENST00000382298.3_Missense_Mutation_p.P2972Q|SACS_ENST00000402364.1_Missense_Mutation_p.P2222Q			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2972					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATATAAATCTGGCTGTAGATC	0.383																																							uc001uon.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(8914-8916)CCA>CAA		sacsin		G	GLN/PRO	0,4406		0,0,2203	87.0	90.0	89.0		8915	5.6	1.0	13		89	1,8597	1.2+/-3.3	0,1,4298	no	missense	SACS	NM_014363.4	76	0,1,6501	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging	2972/4580	23909100	1,13003	2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23909100G>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.8915C>A	13.37:g.23909100G>T	ENSP00000371729:p.Pro2972Gln					SACS_uc001uoo.2_Missense_Mutation_p.P2825Q|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.P2972Q	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	9504	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	2972					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.8915C>A	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	17.63	3.438078	0.62955	0.0	1.16E-4	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87650	-2.17;-2.28;-2.17	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.89757	0.6807	L	0.27053	0.805	0.54753	D	0.99998	D	0.76494	0.999	D	0.73708	0.981	D	0.89622	0.3849	10	0.45353	T	0.12	.	19.7024	0.96060	0.0:0.0:1.0:0.0	.	2972	Q9NZJ4	SACS_HUMAN	Q	2972;2222;2972	ENSP00000371729:P2972Q;ENSP00000385844:P2222Q;ENSP00000371735:P2972Q	ENSP00000371729:P2972Q	P	-	2	0	SACS	22807100	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	9.476000	0.97823	2.653000	0.90120	0.555000	0.69702	CCA		0.383	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		7	92	1	0	2.7689e-08	0.001984	4.21839e-08	7	92				
CCDC70	83446	broad.mit.edu	37	13	52439850	52439850	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr13:52439850G>T	ENST00000242819.4	+	2	632	c.336G>T	c.(334-336)aaG>aaT	p.K112N		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	112						extracellular region (GO:0005576)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		AAATGGAAAAGTCTTTCAGGG	0.468																																							uc001vfu.3		NA																	0					0						c.(334-336)AAG>AAT		coiled-coil domain containing 70 precursor							81.0	96.0	91.0					13																	52439850		2203	4300	6503	SO:0001583	missense	83446					extracellular region|plasma membrane		g.chr13:52439850G>T		CCDS9431.1	13q14.3	2006-02-07			ENSG00000123171	ENSG00000123171			25303	protein-coding gene	gene with protein product						11230166	Standard	NM_031290		Approved	DKFZP434K1172, FLJ25853	uc001vfu.4	Q6NSX1	OTTHUMG00000016950	ENST00000242819.4:c.336G>T	13.37:g.52439850G>T	ENSP00000242819:p.Lys112Asn					uc010tgr.1_RNA	p.K112N	NM_031290	NP_112580	Q6NSX1	CCD70_HUMAN		GBM - Glioblastoma multiforme(99;2.4e-08)	2	632	+		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)	112					Q8N7A8|Q9H097	Missense_Mutation	SNP	ENST00000242819.4	37	c.336G>T	CCDS9431.1	.	.	.	.	.	.	.	.	.	.	G	9.659	1.143627	0.21205	.	.	ENSG00000123171	ENST00000242819	T	0.41400	1.0	5.83	-3.0	0.05480	.	0.414592	0.23815	N	0.044286	T	0.31167	0.0788	M	0.70595	2.14	0.09310	N	1	B	0.17667	0.023	B	0.16722	0.016	T	0.18681	-1.0329	10	0.37606	T	0.19	-17.9532	1.9931	0.03451	0.2686:0.2622:0.3416:0.1275	.	112	Q6NSX1	CCD70_HUMAN	N	112	ENSP00000242819:K112N	ENSP00000242819:K112N	K	+	3	2	CCDC70	51337851	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.567000	0.23608	-0.467000	0.06932	-0.345000	0.07892	AAG		0.468	CCDC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045033.2	NM_031290		15	107	1	0	1.5739e-10	0.004007	2.57032e-10	15	107				
NALCN	259232	broad.mit.edu	37	13	101735531	101735531	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr13:101735531G>T	ENST00000251127.6	-	32	3683	c.3602C>A	c.(3601-3603)gCt>gAt	p.A1201D		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1201					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATACATTTTAGCTCTAAAACC	0.388																																							uc001vox.1		NA																	0				ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(3601-3603)GCT>GAT		voltage gated channel like 1							113.0	112.0	112.0					13																	101735531		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101735531G>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3602C>A	13.37:g.101735531G>T	ENSP00000251127:p.Ala1201Asp						p.A1201D	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			32	3791	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1201			Cytoplasmic (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.3602C>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.696923	0.88830	.	.	ENSG00000102452	ENST00000251127	D	0.97811	-4.55	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.98160	0.9392	M	0.64997	1.995	0.80722	D	1	D	0.54601	0.967	P	0.58520	0.84	D	0.98900	1.0776	10	0.72032	D	0.01	.	19.7628	0.96329	0.0:0.0:1.0:0.0	.	1201	Q8IZF0	NALCN_HUMAN	D	1201	ENSP00000251127:A1201D	ENSP00000251127:A1201D	A	-	2	0	NALCN	100533532	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.476000	0.97823	2.672000	0.90937	0.555000	0.69702	GCT		0.388	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		5	32	1	0	0.000602214	0.000602	0.000704653	5	32				
MYO16	23026	broad.mit.edu	37	13	109365023	109365023	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr13:109365023A>C	ENST00000357550.2	+	2	282	c.241A>C	c.(241-243)Aag>Cag	p.K81Q	MYO16_ENST00000251041.5_Missense_Mutation_p.K81Q|MYO16_ENST00000356711.2_Missense_Mutation_p.K81Q	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCGGCTCCTGAAGGAGGGGGC	0.557																																							uc001vqt.1		NA																	0				ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(241-243)AAG>CAG		myosin heavy chain Myr 8							125.0	104.0	111.0					13																	109365023		2203	4300	6503	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109365023A>C		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.241A>C	13.37:g.109365023A>C	ENSP00000350160:p.Lys81Gln					MYO16_uc010agk.1_Missense_Mutation_p.K103Q	p.K81Q	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		3	367	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		81			ANK 1.			Missense_Mutation	SNP	ENST00000357550.2	37	c.241A>C	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	A	13.05	2.119901	0.37436	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041	T;T;T	0.65364	-0.15;-0.15;-0.15	5.28	4.07	0.47477	Ankyrin repeat-containing domain (4);	0.000000	0.37906	U	0.001882	T	0.44414	0.1292	N	0.17312	0.475	0.80722	D	1	B;P	0.43024	0.076;0.798	B;B	0.42030	0.035;0.373	T	0.23119	-1.0197	9	.	.	.	.	9.0889	0.36598	0.8147:0.1853:0.0:0.0	.	81;81	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	Q	81	ENSP00000349145:K81Q;ENSP00000350160:K81Q;ENSP00000251041:K81Q	.	K	+	1	0	MYO16	108163024	1.000000	0.71417	0.995000	0.50966	0.491000	0.33493	4.332000	0.59279	0.818000	0.34468	0.528000	0.53228	AAG		0.557	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		8	82	0	0	0	0.004482	0	8	82				
COL4A2	1284	broad.mit.edu	37	13	111147722	111147722	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr13:111147722G>A	ENST00000360467.5	+	40	3974	c.3668G>A	c.(3667-3669)gGc>gAc	p.G1223D		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1223	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGCTTCCCAGGCCCTCCTGGG	0.567																																							uc001vqx.2		NA																	0				skin(3)|central_nervous_system(2)|ovary(1)	6						c.(3667-3669)GGC>GAC		alpha 2 type IV collagen preproprotein							73.0	78.0	76.0					13																	111147722		1906	4125	6031	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111147722G>A	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.3668G>A	13.37:g.111147722G>A	ENSP00000353654:p.Gly1223Asp						p.G1223D	NM_001846	NP_001837	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		40	3957	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	1223			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.3668G>A	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.055022	0.55325	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.97924	-4.61	5.09	5.09	0.68999	.	0.000000	0.56097	D	0.000036	D	0.99223	0.9730	H	0.97390	3.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98855	1.0760	10	0.66056	D	0.02	.	16.6497	0.85186	0.0:0.0:1.0:0.0	.	1223	P08572	CO4A2_HUMAN	D	1223	ENSP00000353654:G1223D	ENSP00000257309:G1223D	G	+	2	0	COL4A2	109945723	1.000000	0.71417	0.723000	0.30687	0.133000	0.20885	5.576000	0.67437	2.526000	0.85167	0.561000	0.74099	GGC		0.567	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		10	96	0	0	0	0.000978	0	10	96				
AK7	122481	broad.mit.edu	37	14	96916184	96916184	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr14:96916184A>T	ENST00000267584.4	+	9	960	c.916A>T	c.(916-918)Aga>Tga	p.R306*		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	306					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GAAAATACCCAGAGAAAATGC	0.313																																							uc001yfn.2		NA																	0				ovary(1)	1						c.(916-918)AGA>TGA		adenylate kinase 7							58.0	59.0	59.0					14																	96916184		2203	4300	6503	SO:0001587	stop_gained	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96916184A>T	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.916A>T	14.37:g.96916184A>T	ENSP00000267584:p.Arg306*						p.R306*	NM_152327	NP_689540	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	9	960	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	306			Potential.		Q8IYP6	Nonsense_Mutation	SNP	ENST00000267584.4	37	c.916A>T	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	A	36	5.878308	0.97055	.	.	ENSG00000140057	ENST00000267584	.	.	.	5.35	4.2	0.49525	.	0.462268	0.23910	N	0.043357	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-25.2008	10.6952	0.45894	0.8393:0.1607:0.0:0.0	.	.	.	.	X	306	.	ENSP00000267584:R306X	R	+	1	2	AK7	95985937	0.297000	0.24408	0.949000	0.38748	0.737000	0.42083	3.103000	0.50298	0.855000	0.35359	0.454000	0.30748	AGA		0.313	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1			4	33	0	0	0	0.000602	0	4	33				
OR4N4	283694	broad.mit.edu	37	15	22382661	22382661	+	Silent	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr15:22382661G>T	ENST00000328795.4	+	1	280	c.189G>T	c.(187-189)ctG>ctT	p.L63L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L63L(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATTTATTTCTGGGCAACTTGG	0.458																																							uc001yuc.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(187-189)CTG>CTT		olfactory receptor, family 4, subfamily N,							141.0	143.0	142.0					15																	22382661		2201	4292	6493	SO:0001819	synonymous_variant	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22382661G>T	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.189G>T	15.37:g.22382661G>T						LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Silent_p.L63L	p.L63L	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	7	1170	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	63			Helical; Name=2; (Potential).		Q6IEY3|Q6IF56	Silent	SNP	ENST00000328795.4	37	c.189G>T	CCDS32173.1																																																																																				0.458	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			30	270	1	0	1.41504e-22	0.002852	2.63289e-22	30	270				
MYO9A	4649	broad.mit.edu	37	15	72190149	72190149	+	Silent	SNP	G	G	C	rs200475088		TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr15:72190149G>C	ENST00000356056.5	-	25	5167	c.4695C>G	c.(4693-4695)acC>acG	p.T1565T	MYO9A_ENST00000564571.1_Silent_p.T1565T|MYO9A_ENST00000444904.1_Silent_p.T1546T|MYO9A_ENST00000566885.1_Silent_p.T1185T|MYO9A_ENST00000424560.1_Silent_p.T1565T|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1565	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCTTATTTGAGGTATTTAAGC	0.448													G|||	1	0.000199681	0.0	0.0	5008	,	,		19030	0.0		0.001	False		,,,				2504	0.0						uc002atl.3		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(4693-4695)ACC>ACG		myosin IXA							66.0	59.0	61.0					15																	72190149		2199	4297	6496	SO:0001819	synonymous_variant	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72190149G>C	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.4695C>G	15.37:g.72190149G>C						MYO9A_uc010biq.2_Silent_p.T1185T|MYO9A_uc002atn.1_Silent_p.T1546T|MYO9A_uc002atk.2_Silent_p.T289T|MYO9A_uc002atm.1_Silent_p.T289T	p.T1565T	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN			25	5168	-			1565			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Silent	SNP	ENST00000356056.5	37	c.4695C>G	CCDS10239.1																																																																																				0.448	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		10	31	0	0	0	0.008291	0	10	31				
WASH3P	374666	broad.mit.edu	37	15	102516350	102516350	+	RNA	SNP	G	G	A	rs62028685	byFrequency	TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr15:102516350G>A	ENST00000557932.1	+	0	1298				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G425R(2)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						CTCTGGGAAAGGACCTGGGGC	0.622																																							uc002cdi.2		NA																	2	Substitution - Missense(2)		urinary_tract(1)|kidney(1)		0						c.(676-678)GGA>AGA		RecName: Full=WAS protein family homolog 2; AltName: Full=Protein FAM39B; AltName: Full=CXYorf1-like protein on chromosome 2;																																						374666							g.chr15:102516350G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102516350G>A						WASH3P_uc002cdl.2_Missense_Mutation_p.G226R|WASH3P_uc002cdk.2_RNA|WASH3P_uc002cdp.2_Missense_Mutation_p.G226R|WASH3P_uc010bpo.2_RNA|WASH3P_uc002cdq.2_RNA|WASH3P_uc002cdr.2_RNA	p.G226R	NR_003659						11	2096	+									Missense_Mutation	SNP	ENST00000557932.1	37	c.676G>A		.	.	.	.	.	.	.	.	.	.	g	11.76	1.734997	0.30774	.	.	ENSG00000185596	ENST00000398121;ENST00000378819	.	.	.	0.906	0.906	0.19314	.	0.057886	0.64402	D	0.000001	T	0.37461	0.1004	.	.	.	0.38637	D	0.951517	.	.	.	.	.	.	T	0.38866	-0.9641	4	.	.	.	-6.1676	5.193	0.15220	0.0:0.0:1.0:0.0	.	.	.	.	R	425;320	.	.	G	+	1	0	WASH3P	100333873	1.000000	0.71417	0.848000	0.33437	0.551000	0.35334	7.617000	0.83032	0.793000	0.33875	0.184000	0.17185	GGA		0.622	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		4	10	0	0	0	0.000602	0	4	10				
PLK1	5347	broad.mit.edu	37	16	23691457	23691457	+	Missense_Mutation	SNP	G	G	T	rs536418824	byFrequency	TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr16:23691457G>T	ENST00000300093.4	+	2	572	c.461G>T	c.(460-462)cGa>cTa	p.R154L	PLK1_ENST00000564202.1_3'UTR	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	154	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		CCTGAGGCCCGATACTACCTA	0.557																																					Colon(12;240 564 27038 33155)	Colon(12;240 564 27038 33155)	uc002dlz.1		NA																	0				lung(1)|skin(1)	2						c.(460-462)CGA>CTA		polo-like kinase 1							107.0	87.0	94.0					16																	23691457		2197	4300	6497	SO:0001583	missense	5347				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding	g.chr16:23691457G>T		CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984	ENST00000300093.4:c.461G>T	16.37:g.23691457G>T	ENSP00000300093:p.Arg154Leu						p.R154L	NM_005030	NP_005021	P53350	PLK1_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	2	514	+			154			Protein kinase.		Q15153|Q99746	Missense_Mutation	SNP	ENST00000300093.4	37	c.461G>T	CCDS10616.1	.	.	.	.	.	.	.	.	.	.	G	33	5.287078	0.95517	.	.	ENSG00000166851	ENST00000300093;ENST00000425844;ENST00000330792	T	0.23950	1.88	5.51	5.51	0.81932	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.44180	0.1281	L	0.39397	1.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.32214	-0.9915	10	0.87932	D	0	-13.4019	16.906	0.86128	0.0:0.0:1.0:0.0	.	154	P53350	PLK1_HUMAN	L	154;57;154	ENSP00000300093:R154L	ENSP00000300093:R154L	R	+	2	0	PLK1	23598958	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	9.083000	0.94067	2.595000	0.87683	0.555000	0.69702	CGA		0.557	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030		7	43	1	0	8.12818e-05	0.001984	0.000101379	7	43				
IRX3	79191	broad.mit.edu	37	16	54318982	54318982	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr16:54318982C>A	ENST00000329734.3	-	2	1523	c.811G>T	c.(811-813)Gct>Tct	p.A271S		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	271					mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						GCCGCCCCAGCCAGGGACAGC	0.652																																					GBM(143;1830 1866 4487 4646 37383)	GBM(143;1830 1866 4487 4646 37383)	uc002eht.1		NA																	0					0						c.(811-813)GCT>TCT		iroquois homeobox 3							31.0	28.0	29.0					16																	54318982		2198	4298	6496	SO:0001583	missense	79191				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:54318982C>A	U90308	CCDS10750.1	16q12.2	2011-06-20	2007-07-13		ENSG00000177508	ENSG00000177508		"""Homeoboxes / TALE class"""	14360	protein-coding gene	gene with protein product		612985					Standard	NM_024336		Approved	IRX-1	uc002eht.1	P78415	OTTHUMG00000133200	ENST00000329734.3:c.811G>T	16.37:g.54318982C>A	ENSP00000331608:p.Ala271Ser						p.A271S	NM_024336	NP_077312	P78415	IRX3_HUMAN			2	1227	-			271					Q7Z4A4|Q7Z4A5|Q8IVC6	Missense_Mutation	SNP	ENST00000329734.3	37	c.811G>T	CCDS10750.1	.	.	.	.	.	.	.	.	.	.	C	1.545	-0.540792	0.04053	.	.	ENSG00000177508	ENST00000329734	T	0.50813	0.73	4.67	-1.06	0.10002	.	0.576220	0.18950	N	0.126719	T	0.20577	0.0495	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.17684	-1.0361	10	0.06365	T	0.9	-0.2273	1.42	0.02310	0.4169:0.2797:0.1361:0.1673	.	271	P78415	IRX3_HUMAN	S	271	ENSP00000331608:A271S	ENSP00000331608:A271S	A	-	1	0	IRX3	52876483	0.998000	0.40836	0.003000	0.11579	0.479000	0.33129	1.910000	0.39927	-0.310000	0.08766	0.435000	0.28638	GCT		0.652	IRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256910.2			10	21	1	0	3.07112e-06	0.000978	4.05316e-06	10	21				
NQO1	1728	broad.mit.edu	37	16	69744882	69744882	+	Silent	SNP	T	T	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr16:69744882T>C	ENST00000320623.5	-	6	1333	c.822A>G	c.(820-822)aaA>aaG	p.K274K	CTD-2033A16.1_ENST00000562696.1_RNA|NQO1_ENST00000439109.2_Silent_p.K202K|NQO1_ENST00000564043.1_Silent_p.K253K|NQO1_ENST00000379046.2_Silent_p.K236K|NQO1_ENST00000379047.3_Silent_p.K240K|snoU13_ENST00000459361.1_RNA|NQO1_ENST00000561500.1_Intron	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1	274					aging (GO:0007568)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cellular amino acid metabolic process (GO:0006521)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|NAD(P)H dehydrogenase (quinone) activity (GO:0003955)|poly(A) RNA binding (GO:0044822)|superoxide dismutase activity (GO:0004784)			autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Carboplatin(DB00958)|Cisplatin(DB00515)|Dicoumarol(DB00266)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|Menadione(DB00170)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	AGGAATCTCATTTTCTAGCTT	0.408																																							uc002exp.2		NA																	0					0						c.(820-822)AAA>AAG		NAD(P)H menadione oxidoreductase 1,	Dicumarol(DB00266)|Menadione(DB00170)						140.0	139.0	139.0					16																	69744882		2198	4300	6498	SO:0001819	synonymous_variant	1728				nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process	cytosol	coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity	g.chr16:69744882T>C	M81600	CCDS10883.1, CCDS32471.1, CCDS32472.1, CCDS67067.1	16q12-q22	2012-10-02	2001-11-30	2001-12-07	ENSG00000181019	ENSG00000181019	1.6.5.2		2874	protein-coding gene	gene with protein product		125860	"""diaphorase (NADH/NADPH) (cytochrome b-5 reductase)"""	NMOR1, DIA4		2843525	Standard	NM_001286137		Approved	DHQU, QR1, DTD	uc002exp.3	P15559	OTTHUMG00000137575	ENST00000320623.5:c.822A>G	16.37:g.69744882T>C						NQO1_uc010cfm.2_Silent_p.K253K|NQO1_uc002exq.2_Silent_p.K240K|NQO1_uc002exr.2_Silent_p.K236K|NQO1_uc010vll.1_Silent_p.K202K	p.K274K	NM_000903	NP_000894	P15559	NQO1_HUMAN			6	1013	-			274					B2R5Y9|B4DNM7|B7ZAD1|Q86UK1	Silent	SNP	ENST00000320623.5	37	c.822A>G	CCDS10883.1																																																																																				0.408	NQO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268956.2			25	67	0	0	0	0.008361	0	25	67				
GUCY2D	3000	broad.mit.edu	37	17	7915566	7915566	+	Silent	SNP	C	C	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr17:7915566C>T	ENST00000254854.4	+	9	2004	c.1854C>T	c.(1852-1854)gtC>gtT	p.V618V		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	618	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				TGGCTGTGGTCTCAGAGCACT	0.612																																							uc002gjt.2		NA																	0				skin(1)	1						c.(1852-1854)GTC>GTT		guanylate cyclase 2D, membrane (retina-specific)							50.0	53.0	52.0					17																	7915566		2203	4300	6503	SO:0001819	synonymous_variant	3000				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chr17:7915566C>T	L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.1854C>T	17.37:g.7915566C>T							p.V618V	NM_000180	NP_000171	Q02846	GUC2D_HUMAN			9	1928	+		Prostate(122;0.157)	618			Protein kinase.|Cytoplasmic (Potential).		Q6LEA7	Silent	SNP	ENST00000254854.4	37	c.1854C>T	CCDS11127.1																																																																																				0.612	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2			12	37	0	0	0	0.001855	0	12	37				
EFCAB5	374786	broad.mit.edu	37	17	28405333	28405333	+	Silent	SNP	C	C	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr17:28405333C>T	ENST00000394835.3	+	15	3030	c.2838C>T	c.(2836-2838)ctC>ctT	p.L946L	EFCAB5_ENST00000320856.5_Silent_p.L822L|EFCAB5_ENST00000394832.2_Intron	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	946							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TGTCTGAACTCAGGGGCAATG	0.428																																							uc002het.2		NA																	0				ovary(1)|skin(1)	2						c.(2836-2838)CTC>CTT		EF-hand calcium binding domain 5 isoform a							132.0	126.0	128.0					17																	28405333		1870	4103	5973	SO:0001819	synonymous_variant	374786						calcium ion binding	g.chr17:28405333C>T	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.2838C>T	17.37:g.28405333C>T						EFCAB5_uc010cse.2_Silent_p.L701L|EFCAB5_uc010csf.2_Intron	p.L946L	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN			15	3030	+			946					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Silent	SNP	ENST00000394835.3	37	c.2838C>T	CCDS11254.2																																																																																				0.428	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		8	122	0	0	0	0.004482	0	8	122				
MPP2	4355	broad.mit.edu	37	17	41955346	41955346	+	Silent	SNP	C	C	T	rs202102159	byFrequency	TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr17:41955346C>T	ENST00000461854.1	-	14	1645	c.1560G>A	c.(1558-1560)gcG>gcA	p.A520A	MPP2_ENST00000523501.1_Silent_p.A485A|MPP2_ENST00000377184.3_Silent_p.A513A|MPP2_ENST00000536246.1_Silent_p.A485A|MPP2_ENST00000518766.1_Silent_p.A541A|MPP2_ENST00000269095.4_Silent_p.A496A|MPP2_ENST00000520305.1_Silent_p.A357A			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	520	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		GTCTCAGGTCCGCCTCCTGCC	0.632													C|||	4	0.000798722	0.0	0.0014	5008	,	,		16637	0.001		0.002	False		,,,				2504	0.0						uc010wip.1		NA																	0					0						c.(1621-1623)GCG>GCA		palmitoylated membrane protein 2							51.0	40.0	44.0					17																	41955346		2203	4300	6503	SO:0001819	synonymous_variant	4355				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity	g.chr17:41955346C>T		CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 2"", ""discs large, homolog 2"""	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.1560G>A	17.37:g.41955346C>T						MPP2_uc002ien.1_Silent_p.A513A|MPP2_uc010wim.1_Silent_p.A485A|MPP2_uc002ieo.1_Silent_p.A496A|MPP2_uc010win.1_Silent_p.A357A|MPP2_uc010wio.1_Silent_p.A485A	p.A541A	NM_005374	NP_005365	Q14168	MPP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.12)	13	1680	-		Breast(137;0.00314)	520			Guanylate kinase-like.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Silent	SNP	ENST00000461854.1	37	c.1623G>A																																																																																					0.632	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2	NM_005374		5	49	0	0	0	0.000602	0	5	49				
GPATCH8	23131	broad.mit.edu	37	17	42476845	42476845	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr17:42476845C>A	ENST00000591680.1	-	8	2630	c.2600G>T	c.(2599-2601)cGg>cTg	p.R867L	GPATCH8_ENST00000434000.1_Missense_Mutation_p.R789L	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	867	Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GTAAGAACGCCGGGAGGAACG	0.537																																							uc002igw.1		NA																	0				ovary(2)|kidney(1)|skin(1)	4						c.(2599-2601)CGG>CTG		G patch domain containing 8							134.0	120.0	125.0					17																	42476845		2203	4300	6503	SO:0001583	missense	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42476845C>A	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.2600G>T	17.37:g.42476845C>A	ENSP00000467556:p.Arg867Leu					GPATCH8_uc002igv.1_Missense_Mutation_p.R789L|GPATCH8_uc010wiz.1_Missense_Mutation_p.R789L	p.R867L	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	8	2664	-		Prostate(33;0.0181)	867			Ser-rich.		B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	c.2600G>T	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	C	9.490	1.100492	0.20552	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.11821	2.74	5.21	3.24	0.37175	.	0.152498	0.44097	D	0.000490	T	0.05868	0.0153	N	0.14661	0.345	0.30817	N	0.738208	P	0.37276	0.589	B	0.28465	0.09	T	0.20240	-1.0281	10	0.30078	T	0.28	-4.1826	6.9147	0.24354	0.0:0.7276:0.0:0.2724	.	867	Q9UKJ3	GPTC8_HUMAN	L	867;789	ENSP00000395016:R789L	ENSP00000335486:R867L	R	-	2	0	GPATCH8	39832371	0.517000	0.26226	0.962000	0.40283	0.988000	0.76386	1.641000	0.37197	0.787000	0.33731	0.561000	0.74099	CGG		0.537	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		8	97	1	0	0.000157383	0.00308	0.000191048	8	97				
KIF2B	84643	broad.mit.edu	37	17	51900628	51900628	+	Silent	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr17:51900628G>A	ENST00000268919.4	+	1	390	c.234G>A	c.(232-234)ctG>ctA	p.L78L		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	78					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCATACTCCTGCTGAATCCAG	0.567																																							uc002iua.2		NA																	0				ovary(5)|skin(3)	8						c.(232-234)CTG>CTA		kinesin family member 2B							160.0	156.0	157.0					17																	51900628		2203	4300	6503	SO:0001819	synonymous_variant	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51900628G>A	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.234G>A	17.37:g.51900628G>A							p.L78L	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	390	+			78					Q96MA2|Q9BXG6	Silent	SNP	ENST00000268919.4	37	c.234G>A	CCDS32685.1																																																																																				0.567	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		13	134	0	0	0	0.00245	0	13	134				
SCPEP1	59342	broad.mit.edu	37	17	55072972	55072972	+	Silent	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr17:55072972G>T	ENST00000262288.3	+	8	817	c.762G>T	c.(760-762)ggG>ggT	p.G254G		NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	254					negative regulation of blood pressure (GO:0045776)|positive regulation of vasodilation (GO:0045909)|retinoic acid metabolic process (GO:0042573)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					AGCTGTGGGGGAAAGCAGAAA	0.507																																							uc002iuv.3		NA																	0				skin(1)	1						c.(760-762)GGG>GGT		serine carboxypeptidase 1 precursor							87.0	89.0	88.0					17																	55072972		2203	4300	6503	SO:0001819	synonymous_variant	59342				proteolysis	extracellular region	serine-type carboxypeptidase activity	g.chr17:55072972G>T	AF282618	CCDS11593.1	17q22	2012-09-20			ENSG00000121064	ENSG00000121064			29507	protein-coding gene	gene with protein product	"""retinoid inducible serine carboxypeptidase"""					11447226, 12975309	Standard	NM_021626		Approved	RISC	uc002iuv.4	Q9HB40	OTTHUMG00000178129	ENST00000262288.3:c.762G>T	17.37:g.55072972G>T						SCPEP1_uc010dcl.2_RNA|SCPEP1_uc010wnk.1_Silent_p.G204G	p.G254G	NM_021626	NP_067639	Q9HB40	RISC_HUMAN			8	815	+	Breast(9;2.86e-08)		254					Q96A94|Q9H3F0	Silent	SNP	ENST00000262288.3	37	c.762G>T	CCDS11593.1																																																																																				0.507	SCPEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440622.1	NM_021626		12	51	1	0	1.08611e-07	0.000978	1.58043e-07	12	51				
RGS9	8787	broad.mit.edu	37	17	63221442	63221442	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr17:63221442G>T	ENST00000262406.9	+	18	1797	c.1730G>T	c.(1729-1731)cGc>cTc	p.R577L	RGS9_ENST00000449996.3_Missense_Mutation_p.R574L|RGS9_ENST00000443584.3_Missense_Mutation_p.R574L	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	577					dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.R577H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CCTAAGGCCCGCATGGCTCTG	0.682																																							uc002jfe.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)|skin(2)	4						c.(1729-1731)CGC>CTC		regulator of G-protein signaling 9 isoform 1							73.0	77.0	75.0					17																	63221442		1919	4123	6042	SO:0001583	missense	8787				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr17:63221442G>T	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1730G>T	17.37:g.63221442G>T	ENSP00000262406:p.Arg577Leu					RGS9_uc010dem.2_Missense_Mutation_p.R574L|RGS9_uc002jfd.2_Missense_Mutation_p.R574L|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Missense_Mutation_p.R348L	p.R577L	NM_003835	NP_003826	O75916	RGS9_HUMAN			18	1840	+			577					A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	37	c.1730G>T	CCDS42373.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.521360	0.64747	.	.	ENSG00000108370	ENST00000262406;ENST00000449996	T;T	0.39056	1.13;1.1	4.76	3.75	0.43078	.	0.064018	0.64402	N	0.000005	T	0.56834	0.2012	M	0.63843	1.955	0.38231	D	0.941041	B;D;P	0.89917	0.016;1.0;0.94	B;D;P	0.81914	0.015;0.995;0.606	T	0.62310	-0.6881	10	0.87932	D	0	.	8.1579	0.31180	0.0813:0.0:0.7598:0.1589	.	577;577;574	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	L	577;574	ENSP00000262406:R577L;ENSP00000396329:R574L	ENSP00000262406:R577L	R	+	2	0	RGS9	60651904	1.000000	0.71417	0.848000	0.33437	0.990000	0.78478	4.035000	0.57297	1.255000	0.44051	0.561000	0.74099	CGC		0.682	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835		5	115	1	0	0.000602214	0.000602	0.000704653	5	115				
SEC14L1	6397	broad.mit.edu	37	17	75192327	75192328	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	GA	GA	-	-	GA	GA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr17:75192327_75192328GA>TT	ENST00000413679.2	+	8	1056_1057	c.753_754GA>TT	c.(751-756)ttGAct>ttTTct	p.251_252LT>FS	SEC14L1_ENST00000443798.4_Missense_Mutation_p.251_252LT>FS|SEC14L1_ENST00000431431.2_Missense_Mutation_p.217_218LT>FS|SEC14L1_ENST00000585618.1_Missense_Mutation_p.251_252LT>FS|SEC14L1_ENST00000436233.4_Missense_Mutation_p.251_252LT>FS|SEC14L1_ENST00000430767.4_Missense_Mutation_p.251_252LT>FS|SEC14L1_ENST00000591437.1_Missense_Mutation_p.217_218LT>FS|SEC14L1_ENST00000392476.2_Missense_Mutation_p.251_252LT>FS	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	251					transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TGGGCGATTTGACTCCGCTGCA	0.51																																							uc002jto.2		NA																	0				ovary(2)	2						c.(751-756)TTGACT>TTTTCT		SEC14 (S. cerevisiae)-like 1 isoform a																																				SO:0001583	missense	6397				transport	Golgi apparatus|integral to membrane	binding	g.chr17:75192327_75192328GA>TT	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		Exception_encountered	17.37:g.75192327_75192328delinsTT	ENSP00000394716:p.L251_T252delinsFS					SEC14L1_uc010dhc.2_Missense_Mutation_p.251_252LT>FS|SEC14L1_uc010wth.1_Missense_Mutation_p.251_252LT>FS|SEC14L1_uc002jtm.2_Missense_Mutation_p.251_252LT>FS|SEC14L1_uc010wti.1_Missense_Mutation_p.217_218LT>FS	p.251_252LT>FS	NM_003003	NP_002994	Q92503	S14L1_HUMAN			8	1020_1021	+			251_252					A8K4E8|B4DDI5|D5G3K1|Q99780	Missense_Mutation	DNP	ENST00000413679.2	37	c.753_754GA>TT	CCDS11752.1																																																																																				0.510	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003		4	55	0	0	0	0.004672	0	4	55				
MYOM1	8736	broad.mit.edu	37	18	3134707	3134707	+	Silent	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr18:3134707C>A	ENST00000356443.4	-	16	2658	c.2325G>T	c.(2323-2325)gcG>gcT	p.A775A	MYOM1_ENST00000261606.7_Silent_p.A775A|MYOM1_ENST00000400569.3_Silent_p.A775A	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	775	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAGCAACGCTCGCCTCTATGT	0.567																																							uc002klp.2		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(2323-2325)GCG>GCT		myomesin 1 isoform a							77.0	78.0	78.0					18																	3134707		1948	4135	6083	SO:0001819	synonymous_variant	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3134707C>A	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.2325G>T	18.37:g.3134707C>A						MYOM1_uc002klq.2_Silent_p.A775A	p.A775A	NM_003803	NP_003794	P52179	MYOM1_HUMAN			16	2659	-			775			Fibronectin type-III 3.		Q14BD6|Q6H969|Q6ZUU0	Silent	SNP	ENST00000356443.4	37	c.2325G>T	CCDS45824.1																																																																																				0.567	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		6	45	1	0	5.9392e-07	0.001168	8.3739e-07	6	45				
EPB41L3	23136	broad.mit.edu	37	18	5434002	5434002	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr18:5434002G>A	ENST00000341928.2	-	7	1064	c.724C>T	c.(724-726)Cca>Tca	p.P242S	EPB41L3_ENST00000342933.3_Missense_Mutation_p.P242S|EPB41L3_ENST00000540638.2_Missense_Mutation_p.P242S|EPB41L3_ENST00000544123.1_Missense_Mutation_p.P242S|EPB41L3_ENST00000400111.3_Missense_Mutation_p.P242S|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	242	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CATTCATCTGGGTCATAGTCT	0.527																																							uc002kmt.1		NA																	0				ovary(5)	5						c.(724-726)CCA>TCA		erythrocyte membrane protein band 4.1-like 3							206.0	183.0	191.0					18																	5434002		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5434002G>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.724C>T	18.37:g.5434002G>A	ENSP00000343158:p.Pro242Ser					EPB41L3_uc010wzh.1_Missense_Mutation_p.P242S|EPB41L3_uc002kmu.1_Missense_Mutation_p.P242S|EPB41L3_uc010dkq.1_Missense_Mutation_p.P133S|EPB41L3_uc010dks.1_Missense_Mutation_p.P264S|EPB41L3_uc002kmv.1_Missense_Mutation_p.P133S	p.P242S	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			7	810	-			242			FERM.		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.724C>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173779	0.57692	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	6.16	6.16	0.99307	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.092416	0.85682	D	0.000000	D	0.86707	0.5997	L	0.54965	1.715	0.80722	D	1	D;B;D;D;B	0.69078	0.997;0.106;0.997;0.997;0.128	D;B;P;P;B	0.73380	0.98;0.023;0.828;0.794;0.071	D	0.85565	0.1230	10	0.59425	D	0.04	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	242;242;133;242;242	F5GX05;Q9Y2J2-3;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	S	242;133;242;133;242;242	ENSP00000343158:P242S;ENSP00000441174:P242S;ENSP00000341138:P242S;ENSP00000382981:P242S	ENSP00000343158:P242S	P	-	1	0	EPB41L3	5424002	1.000000	0.71417	0.962000	0.40283	0.366000	0.29705	5.625000	0.67770	2.937000	0.99478	0.650000	0.86243	CCA		0.527	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		9	168	0	0	0	0.004482	0	9	168				
RBBP8	5932	broad.mit.edu	37	18	20572760	20572760	+	Nonsense_Mutation	SNP	C	C	T	rs373907735		TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr18:20572760C>T	ENST00000399722.2	+	11	1321	c.970C>T	c.(970-972)Cga>Tga	p.R324*	RBBP8_ENST00000360790.5_Nonsense_Mutation_p.R324*|RBBP8_ENST00000399725.2_Nonsense_Mutation_p.R324*|RBBP8_ENST00000327155.5_Nonsense_Mutation_p.R324*	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	324					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			ATTACCTACTCGAGTGTCATC	0.338								Homologous recombination																															uc002ktw.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(970-972)CGA>TGA	Direct_reversal_of_damage|Homologous_recombination	retinoblastoma binding protein 8 isoform a		C	stop/ARG,stop/ARG,stop/ARG	1,4391	2.1+/-5.4	0,1,2195	86.0	90.0	89.0		970,970,970	5.1	1.0	18		89	0,8596		0,0,4298	no	stop-gained,stop-gained,stop-gained	RBBP8	NM_002894.2,NM_203291.1,NM_203292.1	,,	0,1,6493	TT,TC,CC		0.0,0.0228,0.0077	,,	324/898,324/898,324/868	20572760	1,12987	2196	4298	6494	SO:0001587	stop_gained	5932				cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr18:20572760C>T	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.970C>T	18.37:g.20572760C>T	ENSP00000382628:p.Arg324*					RBBP8_uc002kty.2_Nonsense_Mutation_p.R324*|RBBP8_uc002ktz.2_Nonsense_Mutation_p.R324*|RBBP8_uc002kua.2_Nonsense_Mutation_p.R324*|RBBP8_uc002ktx.1_Nonsense_Mutation_p.R324*	p.R324*	NM_002894	NP_002885	Q99708	COM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		11	1301	+	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		324					A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Nonsense_Mutation	SNP	ENST00000399722.2	37	c.970C>T	CCDS11875.1	.	.	.	.	.	.	.	.	.	.	C	37	6.106751	0.97291	2.28E-4	0.0	ENSG00000101773	ENST00000327155;ENST00000399725;ENST00000399722;ENST00000399721;ENST00000360790	.	.	.	5.99	5.11	0.69529	.	0.308833	0.31976	N	0.006767	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.1289	13.8822	0.63688	0.3923:0.6077:0.0:0.0	.	.	.	.	X	324	.	ENSP00000323050:R324X	R	+	1	2	RBBP8	18826758	1.000000	0.71417	0.985000	0.45067	0.259000	0.26198	1.918000	0.40006	1.523000	0.49018	0.655000	0.94253	CGA		0.338	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291		13	85	0	0	0	0.001855	0	13	85				
LMAN1	3998	broad.mit.edu	37	18	57026271	57026271	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr18:57026271T>A	ENST00000251047.5	-	1	923	c.206A>T	c.(205-207)cAc>cTc	p.H69L	RP11-27G24.1_ENST00000591331.1_lincRNA	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	69	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	ACTCCCCGCGTGGGCCCAGAA	0.667																																							uc002lhz.2		NA																	0				skin(1)	1						c.(205-207)CAC>CTC		lectin, mannose-binding, 1 precursor	Antihemophilic Factor(DB00025)						38.0	43.0	41.0					18																	57026271		2203	4299	6502	SO:0001583	missense	3998				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding	g.chr18:57026271T>A	X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"""endoplasmic reticulum-golgi intermediate compartment protein 53"""	601567	"""coagulation factor V-factor VIII combined deficiency"""	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.206A>T	18.37:g.57026271T>A	ENSP00000251047:p.His69Leu					LMAN1_uc010xek.1_Missense_Mutation_p.H69L	p.H69L	NM_005570	NP_005561	P49257	LMAN1_HUMAN			1	238	-		Colorectal(73;0.0946)	69			Lumenal (Potential).|L-type lectin-like.		Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Missense_Mutation	SNP	ENST00000251047.5	37	c.206A>T	CCDS11974.1	.	.	.	.	.	.	.	.	.	.	T	17.94	3.510511	0.64522	.	.	ENSG00000074695	ENST00000251047	T	0.61859	0.07	3.83	3.83	0.44106	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.43523	0.1251	L	0.39147	1.195	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.29852	-0.9998	10	0.07175	T	0.84	-9.1894	12.7359	0.57222	0.0:0.0:0.0:1.0	.	69;69	B4DVV0;P49257	.;LMAN1_HUMAN	L	69	ENSP00000251047:H69L	ENSP00000251047:H69L	H	-	2	0	LMAN1	55177251	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.037000	0.76531	1.732000	0.51606	0.459000	0.35465	CAC		0.667	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256129.2	NM_005570		6	53	0	0	0	0.001984	0	6	53				
SEMA6B	10501	broad.mit.edu	37	19	4550282	4550282	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr19:4550282G>T	ENST00000586582.1	-	12	1434	c.1124C>A	c.(1123-1125)cCc>cAc	p.P375H	SEMA6B_ENST00000586965.1_Missense_Mutation_p.P375H|SEMA6B_ENST00000301293.3_Missense_Mutation_p.P375H	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	375	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGCACCCGGGCCTGGGGGT	0.597																																							uc010duc.1		NA																	0				skin(1)	1						c.(1123-1125)CCC>CAC		semaphorin 6B precursor							39.0	40.0	40.0					19																	4550282		2198	4287	6485	SO:0001583	missense	10501				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr19:4550282G>T	AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"""Semaphorins"""	10739	protein-coding gene	gene with protein product	"""Sema VIb"", ""semaphorin Z"", ""semaphorin VIB"""	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.1124C>A	19.37:g.4550282G>T	ENSP00000467290:p.Pro375His					SEMA6B_uc010dud.2_Missense_Mutation_p.P375H|SEMA6B_uc010xih.1_Missense_Mutation_p.P375H	p.P375H	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1162	-		Hepatocellular(1079;0.137)	375			Extracellular (Potential).|Sema.		A5PKU4|F6IB19|Q9NRK9	Missense_Mutation	SNP	ENST00000586582.1	37	c.1124C>A	CCDS12131.1	.	.	.	.	.	.	.	.	.	.	.	15.50	2.851727	0.51270	.	.	ENSG00000167680	ENST00000301293;ENST00000301292	T	0.24723	1.84	2.6	2.6	0.31112	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	U	0.000000	T	0.54549	0.1865	M	0.88512	2.96	0.52099	D	0.999944	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.66164	-0.5992	10	0.87932	D	0	.	12.9003	0.58121	0.0:0.0:1.0:0.0	.	375;375	B4DT36;Q9H3T3	.;SEM6B_HUMAN	H	375	ENSP00000301293:P375H	ENSP00000301292:P375H	P	-	2	0	SEMA6B	4501282	1.000000	0.71417	0.984000	0.44739	0.277000	0.26821	9.245000	0.95431	1.795000	0.52594	0.478000	0.44815	CCC		0.597	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458656.2	NM_032108		6	42	1	0	8.12818e-05	0.001984	0.000101379	6	42				
TUBB4A	10382	broad.mit.edu	37	19	6495936	6495936	+	Silent	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr19:6495936G>A	ENST00000264071.2	-	4	945	c.574C>T	c.(574-576)Ctg>Ttg	p.L192L	CTD-2396E7.9_ENST00000599292.1_RNA|TUBB4A_ENST00000540257.1_Silent_p.L192L|CTD-2396E7.10_ENST00000596027.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	192					'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)										TTCTCCACCAGCTGGTGCACA	0.592																																							uc002mfg.1		NA																	0				ovary(2)	2						c.(574-576)CTG>TTG		tubulin, beta 4							259.0	185.0	210.0					19																	6495936		2203	4300	6503	SO:0001819	synonymous_variant	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.chr19:6495936G>A	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.574C>T	19.37:g.6495936G>A						TUBB4_uc002mff.1_Silent_p.L120L|MIR220B_hsa-mir-220b|MI0005529_5'Flank	p.L192L	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	681	-		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)	192					B3KQP4|Q969E5	Silent	SNP	ENST00000264071.2	37	c.574C>T	CCDS12168.1																																																																																				0.592	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		33	128	0	0	0	0.003755	0	33	128				
EMR1	2015	broad.mit.edu	37	19	6928172	6928172	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr19:6928172G>T	ENST00000312053.4	+	17	2276	c.2239G>T	c.(2239-2241)Gag>Tag	p.E747*	EMR1_ENST00000381407.5_Nonsense_Mutation_p.E606*|EMR1_ENST00000381404.4_Nonsense_Mutation_p.E695*|EMR1_ENST00000250572.8_Nonsense_Mutation_p.E682*|EMR1_ENST00000450315.3_Nonsense_Mutation_p.E570*	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	747					cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GCTGAATACAGAGACAGGGTT	0.498																																							uc002mfw.2		NA																	0				ovary(3)|lung(1)|skin(1)	5						c.(2239-2241)GAG>TAG		egf-like module containing, mucin-like, hormone							188.0	175.0	179.0					19																	6928172		2203	4300	6503	SO:0001587	stop_gained	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6928172G>T	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.2239G>T	19.37:g.6928172G>T	ENSP00000311545:p.Glu747*					EMR1_uc010dvc.2_Nonsense_Mutation_p.E682*|EMR1_uc010dvb.2_Nonsense_Mutation_p.E695*|EMR1_uc010xji.1_Nonsense_Mutation_p.E606*|EMR1_uc010xjj.1_Nonsense_Mutation_p.E570*	p.E747*	NM_001974	NP_001965	Q14246	EMR1_HUMAN			17	2277	+	all_hematologic(4;0.166)		747			Extracellular (Potential).		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Nonsense_Mutation	SNP	ENST00000312053.4	37	c.2239G>T	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	g	29.4	5.001449	0.93227	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	.	.	.	3.78	1.53	0.23141	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	3.442	0.07466	0.2243:0.0:0.5742:0.2015	.	.	.	.	X	682;747;695;682;606;570	.	ENSP00000250572:E682X	E	+	1	0	EMR1	6879172	0.997000	0.39634	0.001000	0.08648	0.531000	0.34715	2.642000	0.46596	0.098000	0.17522	-1.187000	0.01702	GAG		0.498	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			28	124	1	0	3.73988e-18	0.00632	6.8464e-18	28	124				
ZNF433	163059	broad.mit.edu	37	19	12127282	12127282	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr19:12127282A>G	ENST00000344980.6	-	4	570	c.400T>C	c.(400-402)Tat>Cat	p.Y134H	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|ZNF433_ENST00000419886.2_Missense_Mutation_p.Y99H|CTD-2006C1.2_ENST00000406892.2_RNA	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	134					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)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						TATTCTTGATACTCATATGCC	0.393																																							uc002msy.1		NA																	0					0						c.(400-402)TAT>CAT		zinc finger protein 433							110.0	114.0	112.0					19																	12127282		2183	4292	6475	SO:0001583	missense	163059				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12127282A>G	AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"""Zinc fingers, C2H2-type"", ""-"""	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.400T>C	19.37:g.12127282A>G	ENSP00000339767:p.Tyr134His					uc002msx.1_Intron|ZNF433_uc002msz.1_Missense_Mutation_p.Y99H	p.Y134H	NM_001080411	NP_001073880	Q8N7K0	ZN433_HUMAN			4	571	-			134					Q86VX3	Missense_Mutation	SNP	ENST00000344980.6	37	c.400T>C	CCDS45983.1	.	.	.	.	.	.	.	.	.	.	A	8.146	0.786207	0.16189	.	.	ENSG00000197647	ENST00000419886;ENST00000344980;ENST00000550507;ENST00000455504;ENST00000552904	T;T;T;T;T	0.15834	3.29;3.46;2.39;5.94;2.39	1.19	1.19	0.21007	.	.	.	.	.	T	0.13713	0.0332	L	0.41415	1.275	0.09310	N	1	B	0.18461	0.028	B	0.22386	0.039	T	0.25328	-1.0135	9	0.51188	T	0.08	.	6.5493	0.22425	1.0:0.0:0.0:0.0	.	134	Q8N7K0	ZN433_HUMAN	H	99;134;131;145;99	ENSP00000393416:Y99H;ENSP00000339767:Y134H;ENSP00000448099:Y131H;ENSP00000414857:Y145H;ENSP00000448233:Y99H	ENSP00000339767:Y134H	Y	-	1	0	ZNF433	11988282	.	.	0.001000	0.08648	0.158000	0.22134	.	.	0.789000	0.33779	0.254000	0.18369	TAT		0.393	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403716.1	NM_152602		5	68	0	0	0	0.000602	0	5	68				
PRKACA	5566	broad.mit.edu	37	19	14208272	14208272	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr19:14208272C>A	ENST00000308677.4	-	8	862	c.666G>T	c.(664-666)tgG>tgT	p.W222C	PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000589994.1_Missense_Mutation_p.W214C|PRKACA_ENST00000590853.1_Intron	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	222	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						CCAGGGCCCACCAGTCCACGG	0.622																																							uc002myc.2		NA																	0				lung(1)	1						c.(664-666)TGG>TGT		cAMP-dependent protein kinase catalytic subunit							35.0	40.0	38.0					19																	14208272		2203	4300	6503	SO:0001583	missense	5566				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding	g.chr19:14208272C>A		CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612		ENST00000308677.4:c.666G>T	19.37:g.14208272C>A	ENSP00000309591:p.Trp222Cys					PRKACA_uc002myb.2_Missense_Mutation_p.W214C|PRKACA_uc010xnm.1_Missense_Mutation_p.W164C|PRKACA_uc002myd.2_3'UTR	p.W222C	NM_002730	NP_002721	P17612	KAPCA_HUMAN			8	866	-			222			Protein kinase.		Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	Missense_Mutation	SNP	ENST00000308677.4	37	c.666G>T	CCDS12304.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102067	0.76983	.	.	ENSG00000072062	ENST00000308677;ENST00000350356;ENST00000535695;ENST00000536649	T	0.65732	-0.17	4.54	4.54	0.55810	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.38897	U	0.001534	T	0.78266	0.4256	M	0.73598	2.24	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	0.81695	-0.0816	10	0.87932	D	0	.	14.7756	0.69729	0.0:1.0:0.0:0.0	.	164;222;214	B7Z708;P17612;P17612-2	.;KAPCA_HUMAN;.	C	222;214;222;164	ENSP00000309591:W222C	ENSP00000309591:W222C	W	-	3	0	PRKACA	14069272	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.856000	0.69518	2.054000	0.61138	0.591000	0.81541	TGG		0.622	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459004.1	NM_002730		12	36	1	0	3.07112e-06	0.000978	4.05316e-06	12	36				
SUGP2	10147	broad.mit.edu	37	19	19115386	19115386	+	Silent	SNP	T	T	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr19:19115386T>A	ENST00000601879.1	-	7	2817	c.2520A>T	c.(2518-2520)tcA>tcT	p.S840S	SUGP2_ENST00000452918.2_Silent_p.S840S|SUGP2_ENST00000600377.1_Silent_p.S854S|SUGP2_ENST00000337018.6_Silent_p.S840S|SUGP2_ENST00000456085.2_Silent_p.S609S			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	840					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TGAAACAAATTGATGGACATA	0.473																																							uc002nkx.2		NA																	0					0						c.(2518-2520)TCA>TCT		splicing factor, arginine/serine-rich 14							77.0	76.0	76.0					19																	19115386		2203	4300	6503	SO:0001819	synonymous_variant	10147				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:19115386T>A	AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.2520A>T	19.37:g.19115386T>A						SFRS14_uc002nkz.1_Silent_p.S854S|SFRS14_uc002nla.1_Silent_p.S840S|SFRS14_uc002nlb.2_Silent_p.S840S|SFRS14_uc010xqk.1_Silent_p.S609S	p.S840S	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161)		7	2666	-			840					C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Silent	SNP	ENST00000601879.1	37	c.2520A>T	CCDS12392.1																																																																																				0.473	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392		7	99	0	0	0	0.00308	0	7	99				
ZNF43	7594	broad.mit.edu	37	19	21991183	21991183	+	Silent	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr19:21991183G>T	ENST00000354959.4	-	4	1825	c.1656C>A	c.(1654-1656)atC>atA	p.I552I	ZNF43_ENST00000598381.1_Silent_p.I546I|ZNF43_ENST00000594012.1_Silent_p.I546I|ZNF43_ENST00000595461.1_Silent_p.I546I	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	552					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		GTTTGGTAAGGATTGAGAAAT	0.378																																							uc002nqj.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1654-1656)ATC>ATA		zinc finger protein 43							49.0	52.0	51.0					19																	21991183		2174	4283	6457	SO:0001819	synonymous_variant	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21991183G>T	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1656C>A	19.37:g.21991183G>T						ZNF43_uc010ecv.2_Silent_p.I546I|ZNF43_uc002nql.2_Silent_p.I546I|ZNF43_uc002nqm.2_Silent_p.I546I|ZNF43_uc002nqk.2_Silent_p.I482I	p.I552I	NM_003423	NP_003414	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	4	1786	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	552			C2H2-type 14.		A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Silent	SNP	ENST00000354959.4	37	c.1656C>A	CCDS12413.2																																																																																				0.378	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		11	43	1	0	2.80697e-09	0.000978	4.45583e-09	11	43				
ZNF208	7757	broad.mit.edu	37	19	22155240	22155240	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr19:22155240A>G	ENST00000397126.4	-	4	2744	c.2596T>C	c.(2596-2598)Tgt>Cgt	p.C866R	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	866					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GCTTTGCCACATTCTTCACAT	0.363																																							uc002nqp.2		NA																	0				ovary(5)|skin(2)	7						c.(2296-2298)TGT>CGT		zinc finger protein 208							44.0	47.0	46.0					19																	22155240		2068	4230	6298	SO:0001583	missense	7757							g.chr19:22155240A>G	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2596T>C	19.37:g.22155240A>G	ENSP00000380315:p.Cys866Arg					ZNF208_uc002nqo.1_Intron	p.C766R	NM_007153	NP_009084					5	2445	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.2296T>C	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	A	8.400	0.841752	0.16963	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	D	0.85955	-2.05	2.58	2.58	0.30949	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.90635	0.7063	.	.	.	0.58432	D	0.999997	D	0.89917	1.0	D	0.79784	0.993	D	0.89606	0.3838	8	0.87932	D	0	.	8.033	0.30476	1.0:0.0:0.0:0.0	.	766	O43345	ZN208_HUMAN	R	866;766	ENSP00000380315:C866R	ENSP00000380315:C866R	C	-	1	0	ZNF208	21947080	0.858000	0.29795	0.021000	0.16686	0.403000	0.30841	2.835000	0.48175	0.848000	0.35191	0.240000	0.17902	TGT		0.363	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		7	57	0	0	0	0.001984	0	7	57				
RYR1	6261	broad.mit.edu	37	19	39001314	39001314	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr19:39001314G>T	ENST00000359596.3	+	60	9015	c.9015G>T	c.(9013-9015)ttG>ttT	p.L3005F	RYR1_ENST00000355481.4_Missense_Mutation_p.L3005F|RYR1_ENST00000360985.3_Missense_Mutation_p.L3005F			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3005					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TGCTCCCTTTGATCAACCAGT	0.562																																							uc002oit.2		NA																	0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(9013-9015)TTG>TTT		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						201.0	203.0	202.0					19																	39001314		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39001314G>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.9015G>T	19.37:g.39001314G>T	ENSP00000352608:p.Leu3005Phe					RYR1_uc002oiu.2_Missense_Mutation_p.L3005F|RYR1_uc002oiv.1_5'UTR|RYR1_uc010xuf.1_5'Flank	p.L3005F	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		60	9145	+	all_cancers(60;7.91e-06)		3005			Cytoplasmic.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.9015G>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.176751	0.38413	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.66995	-0.24;-0.24;-0.24	4.7	1.11	0.20524	.	0.000000	0.49916	U	0.000132	T	0.76169	0.3950	M	0.82323	2.585	0.38164	D	0.939133	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.74328	-0.3701	10	0.87932	D	0	.	1.3351	0.02143	0.2717:0.2019:0.3979:0.1285	.	3005;3005	P21817-2;P21817	.;RYR1_HUMAN	F	3005	ENSP00000352608:L3005F;ENSP00000347667:L3005F;ENSP00000354254:L3005F	ENSP00000347667:L3005F	L	+	3	2	RYR1	43693154	0.636000	0.27207	0.999000	0.59377	0.970000	0.65996	-0.211000	0.09332	0.583000	0.29574	-0.254000	0.11334	TTG		0.562	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			54	186	1	0	2.83923e-41	0.00361	5.37087e-41	54	186				
PSG6	5675	broad.mit.edu	37	19	43411932	43411932	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr19:43411932A>T	ENST00000292125.2	-	4	825	c.781T>A	c.(781-783)Tgt>Agt	p.C261S	PSG6_ENST00000187910.2_Missense_Mutation_p.C261S|PSG6_ENST00000402603.4_Intron	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	261	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TTAGGTTCACAGGTGAAGGCT	0.488																																							uc002ovj.1		NA																	0				ovary(1)|skin(1)	2						c.(781-783)TGT>AGT		pregnancy specific beta-1-glycoprotein 6 isoform							309.0	291.0	297.0					19																	43411932		2201	4298	6499	SO:0001583	missense	5675				female pregnancy	extracellular region		g.chr19:43411932A>T		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.781T>A	19.37:g.43411932A>T	ENSP00000292125:p.Cys261Ser					PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Missense_Mutation_p.C268S|PSG6_uc002ovi.2_Missense_Mutation_p.C262S|PSG6_uc010xwk.1_Missense_Mutation_p.C101S|PSG11_uc002ovk.1_Intron|PSG6_uc002ove.1_Missense_Mutation_p.C51S|PSG6_uc002ovf.1_Intron|PSG6_uc002ovg.1_Missense_Mutation_p.C261S	p.C261S	NM_002782	NP_002773	Q00889	PSG6_HUMAN			4	833	-		Prostate(69;0.00899)	261			Ig-like C2-type 2.		O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	c.781T>A	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	12.66	2.003146	0.35320	.	.	ENSG00000170848	ENST00000187910;ENST00000292125	D;D	0.94537	-3.45;-3.45	1.27	1.27	0.21489	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.97766	0.9267	H	0.98178	4.165	0.09310	N	0.999994	D;D	0.89917	0.999;1.0	D;D	0.85130	0.997;0.995	D	0.90712	0.4628	9	0.72032	D	0.01	.	4.7051	0.12846	1.0:0.0:0.0:0.0	.	261;261	Q00889;Q00889-2	PSG6_HUMAN;.	S	261	ENSP00000187910:C261S;ENSP00000292125:C261S	ENSP00000187910:C261S	C	-	1	0	PSG6	48103772	0.006000	0.16342	0.004000	0.12327	0.093000	0.18481	0.855000	0.27805	0.574000	0.29417	0.113000	0.15668	TGT		0.488	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		16	285	0	0	0	0.004007	0	16	285				
ZNF600	162966	broad.mit.edu	37	19	53268994	53268994	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr19:53268994T>A	ENST00000338230.3	-	3	2282	c.2015A>T	c.(2014-2016)gAc>gTc	p.D672V		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	672					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		AAAAGTCTTGTCACAAACCTT	0.388																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)	Esophageal Squamous(196;1235 2112 2375 33339 34207)	uc002qab.3		NA																	0					0						c.(2014-2016)GAC>GTC		zinc finger protein 600							108.0	105.0	106.0					19																	53268994		2203	4300	6503	SO:0001583	missense	162966				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53268994T>A	U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.2015A>T	19.37:g.53268994T>A	ENSP00000344791:p.Asp672Val						p.D672V	NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)	3	2301	-			672			C2H2-type 19.		Q6MZR0	Missense_Mutation	SNP	ENST00000338230.3	37	c.2015A>T	CCDS12856.1	.	.	.	.	.	.	.	.	.	.	.	11.72	1.721352	0.30503	.	.	ENSG00000189190	ENST00000338230	T	0.01068	5.38	1.69	0.556	0.17253	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02571	0.0078	M	0.90019	3.08	0.36934	D	0.892026	B	0.30889	0.299	B	0.32211	0.142	T	0.18429	-1.0337	9	0.87932	D	0	.	4.7087	0.12861	0.0:0.4187:0.0:0.5813	.	672	Q6ZNG1	ZN600_HUMAN	V	672	ENSP00000344791:D672V	ENSP00000344791:D672V	D	-	2	0	ZNF600	57960806	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.824000	0.04438	0.039000	0.15632	0.254000	0.18369	GAC		0.388	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	NM_198457		17	74	0	0	0	0.004007	0	17	74				
NLRP12	91662	broad.mit.edu	37	19	54313519	54313519	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr19:54313519G>T	ENST00000324134.6	-	3	1562	c.1394C>A	c.(1393-1395)gCg>gAg	p.A465E	NLRP12_ENST00000351894.4_Missense_Mutation_p.A465E|NLRP12_ENST00000391772.1_Missense_Mutation_p.A465E|NLRP12_ENST00000391773.1_Missense_Mutation_p.A465E|NLRP12_ENST00000345770.5_Missense_Mutation_p.A465E|NLRP12_ENST00000391775.3_Missense_Mutation_p.A465E|NLRP12_ENST00000535162.1_Missense_Mutation_p.A465E|NLRP12_ENST00000354278.3_Missense_Mutation_p.A465E	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	465	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCCATCTGCCGCCAAGGAGCA	0.597																																							uc002qch.3		NA																	0				ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(1393-1395)GCG>GAG		NLR family, pyrin domain containing 12 isoform							58.0	65.0	62.0					19																	54313519		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54313519G>T	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1394C>A	19.37:g.54313519G>T	ENSP00000319377:p.Ala465Glu					NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.A465E|NLRP12_uc002qcj.3_Missense_Mutation_p.A465E|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.A465E	p.A465E	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	1614	-	Ovarian(34;0.19)		465			NACHT.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.1394C>A	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258470	0.59321	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4;-2.4;-2.4	4.43	4.43	0.53597	NACHT nucleoside triphosphatase (1);	0.000000	0.37136	N	0.002226	D	0.96150	0.8745	H	0.96208	3.785	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.97454	1.0030	10	0.87932	D	0	.	14.9817	0.71316	0.0:0.0:1.0:0.0	.	465;465;465;465	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	E	465	ENSP00000319377:A465E;ENSP00000438030:A465E;ENSP00000340473:A465E;ENSP00000346231:A465E;ENSP00000375655:A465E;ENSP00000375653:A465E;ENSP00000375652:A465E	ENSP00000319377:A465E	A	-	2	0	NLRP12	59005331	1.000000	0.71417	0.802000	0.32245	0.229000	0.25112	5.176000	0.65026	2.185000	0.69588	0.485000	0.47835	GCG		0.597	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		10	76	1	0	3.86212e-05	0.008291	4.92529e-05	10	76				
CACNG6	59285	broad.mit.edu	37	19	54515349	54515349	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr19:54515349T>A	ENST00000252729.2	+	4	1279	c.689T>A	c.(688-690)aTc>aAc	p.I230N	CACNG6_ENST00000346968.2_Missense_Mutation_p.I184N|CACNG6_ENST00000352529.1_Missense_Mutation_p.I159N	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	230					calcium ion transport (GO:0006816)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		GCCGGCCTGATCCTGCTGTTG	0.716																																							uc002qct.2		NA																	0				ovary(2)	2						c.(688-690)ATC>AAC		voltage-dependent calcium channel gamma-6							24.0	29.0	28.0					19																	54515349		2188	4273	6461	SO:0001583	missense	59285					voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54515349T>A	AF288386	CCDS12870.1, CCDS12871.1	19q13.4	2008-05-02			ENSG00000130433	ENSG00000130433		"""Calcium channel subunits"""	13625	protein-coding gene	gene with protein product		606898				11170751	Standard	NM_145814		Approved		uc002qct.3	Q9BXT2	OTTHUMG00000064907	ENST00000252729.2:c.689T>A	19.37:g.54515349T>A	ENSP00000252729:p.Ile230Asn					CACNG6_uc002qcu.2_Missense_Mutation_p.I184N|CACNG6_uc002qcv.2_Missense_Mutation_p.I159N	p.I230N	NM_145814	NP_665813	Q9BXT2	CCG6_HUMAN		GBM - Glioblastoma multiforme(134;0.168)	4	1279	+	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		230			Helical; (Potential).			Missense_Mutation	SNP	ENST00000252729.2	37	c.689T>A	CCDS12870.1	.	.	.	.	.	.	.	.	.	.	T	19.61	3.860640	0.71834	.	.	ENSG00000130433	ENST00000252729;ENST00000352529;ENST00000346968	T;T;T	0.70631	-0.5;1.21;1.2	3.76	3.76	0.43208	.	0.806143	0.10765	N	0.636730	T	0.75488	0.3856	L	0.51422	1.61	0.22787	N	0.998733	P;P;P	0.47484	0.891;0.83;0.896	P;P;P	0.55824	0.667;0.598;0.785	T	0.63910	-0.6530	10	0.87932	D	0	-14.5681	9.2154	0.37344	0.0:0.0:0.0:1.0	.	159;184;230	A6NP74;A6NFR2;Q9BXT2	.;.;CCG6_HUMAN	N	230;159;184	ENSP00000252729:I230N;ENSP00000319135:I159N;ENSP00000319097:I184N	ENSP00000252729:I230N	I	+	2	0	CACNG6	59207161	0.778000	0.28640	0.724000	0.30704	0.927000	0.56198	3.378000	0.52432	1.960000	0.56953	0.456000	0.33151	ATC		0.716	CACNG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139359.1			14	70	0	0	0	0.00245	0	14	70				
SOS1	6654	broad.mit.edu	37	2	39240608	39240608	+	Silent	SNP	T	T	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr2:39240608T>A	ENST00000426016.1	-	14	2246	c.2160A>T	c.(2158-2160)acA>acT	p.T720T	SOS1_ENST00000402219.2_Silent_p.T720T|SOS1_ENST00000395038.2_Silent_p.T720T			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	720	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|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)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TACCTCTTACTGTTCCAATAA	0.343									Noonan syndrome																														uc002rrk.3		NA																	0				ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10						c.(2158-2160)ACA>ACT		son of sevenless homolog 1							84.0	86.0	86.0					2																	39240608		2203	4298	6501	SO:0001819	synonymous_variant	6654	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	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39240608T>A	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.2160A>T	2.37:g.39240608T>A						SOS1_uc002rrj.3_Silent_p.T334T	p.T720T	NM_005633	NP_005624	Q07889	SOS1_HUMAN			13	2201	-		all_hematologic(82;0.21)	720			N-terminal Ras-GEF.		A8K2G3|B4DXG2	Silent	SNP	ENST00000426016.1	37	c.2160A>T	CCDS1802.1																																																																																				0.343	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		9	78	0	0	0	0.006214	0	9	78				
SLC3A1	6519	broad.mit.edu	37	2	44547565	44547565	+	Silent	SNP	C	C	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr2:44547565C>G	ENST00000260649.6	+	10	1921	c.1845C>G	c.(1843-1845)ccC>ccG	p.P615P	PREPL_ENST00000409411.1_3'UTR|PREPL_ENST00000409957.1_3'UTR|PREPL_ENST00000541738.1_3'UTR|SLC3A1_ENST00000409380.1_Silent_p.P337P|SLC3A1_ENST00000409740.3_Silent_p.P246P|PREPL_ENST00000409936.1_3'UTR	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	615			P -> T (in CSNU). {ECO:0000269|PubMed:8054986}.		amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	CGGGCCTTCCCGCTAAAATGA	0.408																																							uc002ruc.3		NA																	0					0						c.(1843-1845)CCC>CCG		solute carrier family 3, member 1	L-Cystine(DB00138)						105.0	96.0	99.0					2																	44547565		2203	4300	6503	SO:0001819	synonymous_variant	6519				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity	g.chr2:44547565C>G		CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"""Solute carriers"""	11025	protein-coding gene	gene with protein product		104614	"""solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"""			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.1845C>G	2.37:g.44547565C>G						PREPL_uc002ruf.2_3'UTR|PREPL_uc002rug.2_3'UTR|PREPL_uc002ruh.2_3'UTR|PREPL_uc010fax.2_3'UTR|PREPL_uc002rui.3_3'UTR|PREPL_uc002ruj.1_3'UTR|PREPL_uc002ruk.1_3'UTR|SLC3A1_uc002rud.3_Silent_p.P337P|SLC3A1_uc002rue.3_Silent_p.P235P	p.P615P	NM_000341	NP_000332	Q07837	SLC31_HUMAN			10	1923	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	615		P -> T (in CSNU1).	Extracellular (Potential).		A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Silent	SNP	ENST00000260649.6	37	c.1845C>G	CCDS1819.1																																																																																				0.408	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341		8	75	0	0	0	0.00308	0	8	75				
FSHR	2492	broad.mit.edu	37	2	49190356	49190356	+	Missense_Mutation	SNP	A	A	T	rs145815060		TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr2:49190356A>T	ENST00000406846.2	-	10	1723	c.1604T>A	c.(1603-1605)cTt>cAt	p.L535H	FSHR_ENST00000541117.1_Missense_Mutation_p.L271H|FSHR_ENST00000304421.4_Missense_Mutation_p.L509H|FSHR_ENST00000346173.3_Missense_Mutation_p.L473H	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	535					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	ATTGAGCACAAGGAGGGACAT	0.517									Gonadal Dysgenesis, 46 XX																														uc002rww.2		NA																	0				ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8						c.(1603-1605)CTT>CAT		follicle stimulating hormone receptor isoform 1	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	A	HIS/LEU,HIS/LEU	0,4406		0,0,2203	159.0	123.0	135.0		1604,1526	5.3	1.0	2	dbSNP_134	135	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FSHR	NM_000145.3,NM_181446.2	99,99	0,1,6502	TT,TA,AA		0.0116,0.0,0.0077	probably-damaging,probably-damaging	535/696,509/670	49190356	1,13005	2203	4300	6503	SO:0001583	missense	2492	Gonadal_Dysgenesis_46_XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49190356A>T		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1604T>A	2.37:g.49190356A>T	ENSP00000384708:p.Leu535His					FSHR_uc002rwx.2_Missense_Mutation_p.L473H|FSHR_uc010fbn.2_Missense_Mutation_p.L509H	p.L535H	NM_000145	NP_000136	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	1678	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	535			Helical; Name=5; (Potential).		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.1604T>A	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	A	18.46	3.629188	0.67015	0.0	1.16E-4	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117	T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.89736	0.6801	H	0.94771	3.58	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.92403	0.5931	9	.	.	.	.	14.958	0.71131	1.0:0.0:0.0:0.0	.	509;473;535	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	H	535;473;509;271	ENSP00000384708:L535H;ENSP00000333908:L473H;ENSP00000306780:L509H;ENSP00000444172:L271H	.	L	-	2	0	FSHR	49043860	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.087000	0.94110	2.371000	0.80710	0.533000	0.62120	CTT		0.517	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			3	29	0	0	0	0.004672	0	3	29				
RGPD4	285190	broad.mit.edu	37	2	108475895	108475895	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr2:108475895C>T	ENST00000408999.3	+	11	1596	c.1519C>T	c.(1519-1521)Cac>Tac	p.H507Y	RGPD4_ENST00000354986.4_Missense_Mutation_p.H507Y	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	507					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ATGTAATTCTCACCACAGCTC	0.368																																							uc010ywk.1		NA																	0				skin(2)	2						c.(1519-1521)CAC>TAC		RANBP2-like and GRIP domain containing 4							28.0	33.0	32.0					2																	108475895		692	1591	2283	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108475895C>T	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.1519C>T	2.37:g.108475895C>T	ENSP00000386810:p.His507Tyr					RGPD4_uc002tdu.2_5'UTR|RGPD4_uc010ywl.1_RNA	p.H507Y	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN			11	1601	+			507					B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.1519C>T	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	0.001	-3.014792	0.00042	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.44881	0.91;0.91	2.6	1.7	0.24286	.	.	.	.	.	T	0.33000	0.0848	L	0.51422	1.61	0.20563	N	0.999886	P	0.49185	0.92	B	0.43623	0.425	T	0.16778	-1.0391	9	0.06365	T	0.9	-1.6356	9.3872	0.38349	0.0:0.8786:0.0:0.1214	.	507	Q7Z3J3	RGPD4_HUMAN	Y	507;507;265	ENSP00000347081:H507Y;ENSP00000386810:H507Y	ENSP00000347081:H507Y	H	+	1	0	RGPD4	107842327	1.000000	0.71417	0.334000	0.25495	0.297000	0.27493	2.135000	0.42112	0.191000	0.20236	-1.353000	0.01230	CAC		0.368	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		14	164	0	0	0	0.003163	0	14	164				
CCDC74A	90557	broad.mit.edu	37	2	132288319	132288319	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr2:132288319G>C	ENST00000295171.6	+	3	601	c.463G>C	c.(463-465)Ggt>Cgt	p.G155R	CCDC74A_ENST00000409856.3_Intron|CCDC74A_ENST00000467992.2_Missense_Mutation_p.G257R	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	155										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TCTTGCGGGCGGTAGCGCCGA	0.637																																							uc002tta.2		NA																	0				skin(1)	1						c.(463-465)GGT>CGT		coiled-coil domain containing 74A							97.0	92.0	93.0					2																	132288319		2202	4300	6502	SO:0001583	missense	90557							g.chr2:132288319G>C		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.463G>C	2.37:g.132288319G>C	ENSP00000295171:p.Gly155Arg					CCDC74A_uc002ttb.2_Intron	p.G155R	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN			3	515	+			155					Q6P4I5	Missense_Mutation	SNP	ENST00000295171.6	37	c.463G>C	CCDS2167.1	.	.	.	.	.	.	.	.	.	.	.	10.55	1.382543	0.25031	.	.	ENSG00000163040	ENST00000295171;ENST00000467992	T;T	0.54479	1.86;0.57	2.28	0.0171	0.14111	.	.	.	.	.	T	0.45478	0.1344	L	0.48642	1.525	0.09310	N	1	D	0.60575	0.988	P	0.52031	0.688	T	0.36040	-0.9764	9	0.12430	T	0.62	.	3.0724	0.06235	0.1864:0.2889:0.5247:0.0	.	155	Q96AQ1	CC74A_HUMAN	R	155;257	ENSP00000295171:G155R;ENSP00000444610:G257R	ENSP00000295171:G155R	G	+	1	0	CCDC74A	132004789	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-1.480000	0.02325	0.296000	0.22592	0.194000	0.17425	GGT		0.637	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		5	70	0	0	0	0.000602	0	5	70				
SPOPL	339745	broad.mit.edu	37	2	139308546	139308546	+	Missense_Mutation	SNP	A	A	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr2:139308546A>C	ENST00000280098.4	+	4	653	c.274A>C	c.(274-276)Agc>Cgc	p.S92R		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	92	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		GCTTTTAGTCAGCTGCCCCAA	0.368																																							uc002tvh.2		NA																	0				skin(2)|breast(1)	3						c.(274-276)AGC>CGC		speckle-type POZ protein-like							82.0	87.0	85.0					2																	139308546		2203	4299	6502	SO:0001583	missense	339745					nucleus		g.chr2:139308546A>C		CCDS33298.1	2q22.1	2013-01-09			ENSG00000144228	ENSG00000144228		"""BTB/POZ domain containing"""	27934	protein-coding gene	gene with protein product	"""HIB homolog 2"", ""roadkill homolog 2"""						Standard	NM_001001664		Approved	BTBD33	uc002tvh.3	Q6IQ16	OTTHUMG00000153635	ENST00000280098.4:c.274A>C	2.37:g.139308546A>C	ENSP00000280098:p.Ser92Arg						p.S92R	NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0296)	4	674	+			92			MATH.			Missense_Mutation	SNP	ENST00000280098.4	37	c.274A>C	CCDS33298.1	.	.	.	.	.	.	.	.	.	.	A	11.60	1.685857	0.29962	.	.	ENSG00000144228	ENST00000280098	T	0.44881	0.91	5.78	4.62	0.57501	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.41396	0.1157	M	0.65320	2	0.80722	D	1	P	0.39282	0.666	B	0.37888	0.26	T	0.31024	-0.9958	10	0.48119	T	0.1	-0.9201	12.3774	0.55287	0.8737:0.0:0.0:0.1263	.	92	Q6IQ16	SPOPL_HUMAN	R	92	ENSP00000280098:S92R	ENSP00000280098:S92R	S	+	1	0	SPOPL	139025016	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.518000	0.81795	0.992000	0.38840	-0.309000	0.09137	AGC		0.368	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331897.1			6	96	0	0	0	0.00308	0	6	96				
DYNC1I2	1781	broad.mit.edu	37	2	172549360	172549360	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr2:172549360A>T	ENST00000397119.3	+	3	349	c.182A>T	c.(181-183)gAa>gTa	p.E61V	DYNC1I2_ENST00000409197.1_Missense_Mutation_p.E61V|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.E61V|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.E61V|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.E61V|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.E61V|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.E61V|DYNC1I2_ENST00000534253.2_Missense_Mutation_p.E61V|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.E61V|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.E61V|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.E61V	NM_001378.1	NP_001369.1	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	61					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|microtubule (GO:0005874)|vesicle (GO:0031982)	microtubule motor activity (GO:0003777)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			AGAGAAGCTGAAGCATTGCTT	0.383																																							uc002uha.1		NA																	0				ovary(1)	1						c.(181-183)GAA>GTA		dynein, cytoplasmic 1, intermediate chain 2							48.0	47.0	47.0					2																	172549360		1861	4095	5956	SO:0001583	missense	1781				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity	g.chr2:172549360A>T	AK055491	CCDS46450.1, CCDS63054.1, CCDS63056.1, CCDS63057.1	2q31.1	2013-01-10	2005-11-24	2005-11-24	ENSG00000077380	ENSG00000077380		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2964	protein-coding gene	gene with protein product		603331	"""dynein, cytoplasmic, intermediate polypeptide 2"""	DNCI2		10049579, 16260502	Standard	NM_001378		Approved		uc002uha.2	Q13409	OTTHUMG00000154061	ENST00000397119.3:c.182A>T	2.37:g.172549360A>T	ENSP00000380308:p.Glu61Val					DYNC1I2_uc002uhc.2_Missense_Mutation_p.E61V|DYNC1I2_uc002uhb.1_Missense_Mutation_p.E61V|DYNC1I2_uc010zds.1_Missense_Mutation_p.E61V|DYNC1I2_uc002uhd.1_Missense_Mutation_p.E61V|DYNC1I2_uc002uhe.1_Missense_Mutation_p.E61V|DYNC1I2_uc002uhf.1_Missense_Mutation_p.E61V|DYNC1I2_uc010zdt.1_Missense_Mutation_p.E61V	p.E61V	NM_001378	NP_001369	Q13409	DC1I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.198)		3	347	+			61					B7ZA04|D3DPD4|D3DPD5|D3DPD6|Q32LY9|Q53S84|Q5BJF8|Q7Z4X1|Q96NG7|Q96S87|Q9BXZ5|Q9NT58	Missense_Mutation	SNP	ENST00000397119.3	37	c.182A>T	CCDS46450.1	.	.	.	.	.	.	.	.	.	.	A	31	5.065811	0.93898	.	.	ENSG00000077380	ENST00000452242;ENST00000340296;ENST00000534253;ENST00000263811;ENST00000397119;ENST00000410079;ENST00000438879;ENST00000508530;ENST00000409197;ENST00000456808;ENST00000409317;ENST00000409773;ENST00000411953;ENST00000409453;ENST00000358002;ENST00000435234;ENST00000443458;ENST00000412370;ENST00000423910;ENST00000425485;ENST00000430778;ENST00000422646	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.79352	2.15;-1.26;-1.24;-1.09;-1.08;-1.04;2.15;-1.01;-1.26;-1.09;-1.08;-0.93;-1.04;2.15;2.15	5.74	5.74	0.90152	.	0.086974	0.85682	D	0.000000	D	0.85961	0.5819	M	0.71581	2.175	0.80722	D	1	P;P;P;P;P	0.51240	0.905;0.943;0.903;0.903;0.905	P;P;P;P;P	0.59424	0.723;0.857;0.761;0.761;0.723	D	0.87518	0.2444	10	0.87932	D	0	-20.1732	16.0294	0.80567	1.0:0.0:0.0:0.0	.	61;61;61;61;61	B7ZA04;Q13409-2;Q13409-6;Q13409-3;Q13409	.;.;.;.;DC1I2_HUMAN	V	61	ENSP00000398765:E61V;ENSP00000339430:E61V;ENSP00000433791:E61V;ENSP00000263811:E61V;ENSP00000380308:E61V;ENSP00000386522:E61V;ENSP00000392741:E61V;ENSP00000423339:E61V;ENSP00000386397:E61V;ENSP00000386591:E61V;ENSP00000386415:E61V;ENSP00000386886:E61V;ENSP00000350692:E61V;ENSP00000397654:E61V;ENSP00000403089:E61V	ENSP00000263811:E61V	E	+	2	0	DYNC1I2	172257606	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.718000	0.91430	2.190000	0.69967	0.477000	0.44152	GAA		0.383	DYNC1I2-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333683.2	NM_001378		5	11	0	0	0	0.000602	0	5	11				
CHRNA1	1134	broad.mit.edu	37	2	175614801	175614801	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr2:175614801G>T	ENST00000261007.5	-	8	1016	c.950C>A	c.(949-951)cCc>cAc	p.P317H	CHRNA1_ENST00000348749.5_Missense_Mutation_p.P292H|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409219.1_Missense_Mutation_p.P292H|CHRNA1_ENST00000409542.1_Missense_Mutation_p.P210H	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	317					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	TCCAATCAAGGGCACAGCACT	0.512																																							uc002ujd.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(949-951)CCC>CAC		nicotinic cholinergic receptor alpha 1 isoform a							203.0	155.0	172.0					2																	175614801		2203	4300	6503	SO:0001583	missense	1134				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr2:175614801G>T	Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1955	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 1 (muscle)"""	100690	"""cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"""	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.950C>A	2.37:g.175614801G>T	ENSP00000261007:p.Pro317His					uc002uiw.2_Intron|CHRNA1_uc002uje.2_Missense_Mutation_p.P292H	p.P317H	NM_001039523	NP_001034612	P02708	ACHA_HUMAN			8	1028	-			317					B4DRV6|D3DPE8	Missense_Mutation	SNP	ENST00000261007.5	37	c.950C>A	CCDS33331.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812919	0.70912	.	.	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409542;ENST00000409219	D;D;D;D	0.94000	-2.82;-2.82;-2.82;-3.33	5.5	5.5	0.81552	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.98077	0.9366	H	0.96633	3.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99157	1.0860	10	0.87932	D	0	.	19.4077	0.94655	0.0:0.0:1.0:0.0	.	292;317	Q53SH4;P02708	.;ACHA_HUMAN	H	292;317;210;292	ENSP00000261008:P292H;ENSP00000261007:P317H;ENSP00000387026:P210H;ENSP00000386611:P292H	ENSP00000261007:P317H	P	-	2	0	CHRNA1	175323047	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	9.866000	0.99616	2.586000	0.87340	0.655000	0.94253	CCC		0.512	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1			10	50	1	0	3.07112e-06	0.000978	4.05316e-06	10	50				
TTN	7273	broad.mit.edu	37	2	179595833	179595833	+	Silent	SNP	T	T	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr2:179595833T>A	ENST00000591111.1	-	58	16832	c.16608A>T	c.(16606-16608)acA>acT	p.T5536T	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Silent_p.T5853T|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.T4609T			Q8WZ42	TITIN_HUMAN	titin	12353	Ig-like 36.				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)			ACCATTTGGCTGTAATCTCCT	0.418																																							uc010zfg.1		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.(13825-13827)ACA>ACT		titin isoform N2-A							129.0	121.0	124.0					2																	179595833		1843	4092	5935	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179595833T>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.16608A>T	2.37:g.179595833T>A						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.T1270T	p.T4609T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		57	14051	-			5536					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.13827A>T																																																																																					0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	108	0	0	0	0.004482	0	8	108				
SATB2	23314	broad.mit.edu	37	2	200213728	200213728	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr2:200213728T>A	ENST00000417098.1	-	7	1685	c.869A>T	c.(868-870)cAg>cTg	p.Q290L	SATB2_ENST00000457245.1_Missense_Mutation_p.Q290L|SATB2_ENST00000260926.5_Missense_Mutation_p.Q290L|SATB2_ENST00000443023.1_Missense_Mutation_p.Q231L|SATB2_ENST00000428695.1_Missense_Mutation_p.Q172L	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	290					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CATGATGGGCTGTAATGCGGG	0.493																																					Colon(30;262 767 11040 24421 36230)	Colon(30;262 767 11040 24421 36230)	uc002uuy.1		NA																	0				ovary(1)	1						c.(868-870)CAG>CTG		SATB homeobox 2							195.0	193.0	193.0					2																	200213728		2203	4300	6503	SO:0001583	missense	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200213728T>A	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.869A>T	2.37:g.200213728T>A	ENSP00000401112:p.Gln290Leu					SATB2_uc010fsq.1_Missense_Mutation_p.Q172L|SATB2_uc002uuz.1_Missense_Mutation_p.Q290L|SATB2_uc002uva.1_Missense_Mutation_p.Q290L|SATB2_uc002uvb.1_Missense_Mutation_p.Q33L	p.Q290L	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN			7	1686	-			290					A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	37	c.869A>T	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	T	16.57	3.160850	0.57368	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T;T	0.42900	0.99;0.98;0.99;0.96;0.99	5.42	5.42	0.78866	.	0.415582	0.24229	N	0.040367	T	0.40522	0.1120	N	0.03608	-0.345	0.58432	D	0.999999	P;D;B	0.76494	0.826;0.999;0.004	B;D;B	0.78314	0.344;0.991;0.002	T	0.48758	-0.9007	10	0.23891	T	0.37	-16.5152	15.7643	0.78114	0.0:0.0:0.0:1.0	.	172;38;290	Q3ZB87;Q9H726;Q9UPW6	.;.;SATB2_HUMAN	L	290;231;290;172;290	ENSP00000401112:Q290L;ENSP00000388764:Q231L;ENSP00000260926:Q290L;ENSP00000388581:Q172L;ENSP00000405420:Q290L	ENSP00000260926:Q290L	Q	-	2	0	SATB2	199921973	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.954000	0.87848	2.190000	0.69967	0.533000	0.62120	CAG		0.493	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		8	78	0	0	0	0.00308	0	8	78				
PARD3B	117583	broad.mit.edu	37	2	206165275	206165275	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr2:206165275G>T	ENST00000406610.2	+	17	2414	c.2207G>T	c.(2206-2208)gGt>gTt	p.G736V	PARD3B_ENST00000358768.2_Missense_Mutation_p.G674V|PARD3B_ENST00000351153.1_Intron|PARD3B_ENST00000462231.1_Missense_Mutation_p.G736V|PARD3B_ENST00000349953.3_Missense_Mutation_p.G736V	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	736					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AAAGATTTTGGTCCAACTCTG	0.488																																							uc002var.1		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(2206-2208)GGT>GTT		par-3 partitioning defective 3 homolog B isoform							101.0	101.0	101.0					2																	206165275		1866	4117	5983	SO:0001583	missense	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:206165275G>T	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2207G>T	2.37:g.206165275G>T	ENSP00000385848:p.Gly736Val					PARD3B_uc010fub.1_Missense_Mutation_p.G736V|PARD3B_uc002vao.1_Missense_Mutation_p.G736V|PARD3B_uc002vap.1_Missense_Mutation_p.G674V|PARD3B_uc002vaq.1_Intron	p.G736V	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	17	2414	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	736					E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37	c.2207G>T		.	.	.	.	.	.	.	.	.	.	G	23.3	4.405162	0.83230	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000349953	T;T;T	0.31769	1.48;1.48;1.48	5.63	5.63	0.86233	.	0.142348	0.45361	D	0.000362	T	0.60287	0.2257	M	0.77486	2.375	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.63301	-0.6668	10	0.87932	D	0	.	19.679	0.95950	0.0:0.0:1.0:0.0	.	736;674;736	Q8TEW8;Q8TEW8-2;Q8TEW8-5	PAR3L_HUMAN;.;.	V	736;674;736	ENSP00000385848:G736V;ENSP00000351618:G674V;ENSP00000340280:G736V	ENSP00000340280:G736V	G	+	2	0	PARD3B	205873520	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.651000	0.90000	0.655000	0.94253	GGT		0.488	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		24	96	1	0	6.21321e-17	0.00278	1.12832e-16	24	96				
CHPF	79586	broad.mit.edu	37	2	220404988	220404988	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr2:220404988G>C	ENST00000243776.6	-	4	1693	c.1445C>G	c.(1444-1446)aCt>aGt	p.T482S	CHPF_ENST00000535926.1_Missense_Mutation_p.T320S	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	482					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CACTCGGCGAGTGAGGGGCCG	0.652																																							uc002vmc.3		NA																	0					0						c.(1444-1446)ACT>AGT		chondroitin polymerizing factor							21.0	24.0	23.0					2																	220404988		2200	4298	6498	SO:0001583	missense	79586					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding	g.chr2:220404988G>C	BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24291	protein-coding gene	gene with protein product	"""chondroitin sulfate synthase 2"""	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.1445C>G	2.37:g.220404988G>C	ENSP00000243776:p.Thr482Ser					CHPF_uc010zlh.1_Missense_Mutation_p.T320S	p.T482S	NM_024536	NP_078812	Q8IZ52	CHSS2_HUMAN		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	4	1672	-		Renal(207;0.0183)	482			Lumenal (Potential).		B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Missense_Mutation	SNP	ENST00000243776.6	37	c.1445C>G	CCDS2443.1	.	.	.	.	.	.	.	.	.	.	G	7.581	0.668835	0.14776	.	.	ENSG00000123989	ENST00000243776;ENST00000535926	T;T	0.15372	2.43;2.43	4.98	4.98	0.66077	.	0.060105	0.64402	D	0.000005	T	0.15132	0.0365	N	0.25647	0.755	0.51767	D	0.999931	B	0.26002	0.139	B	0.32393	0.145	T	0.08617	-1.0713	10	0.12430	T	0.62	-34.9936	18.8271	0.92123	0.0:0.0:1.0:0.0	.	482	Q8IZ52	CHSS2_HUMAN	S	482;320	ENSP00000243776:T482S;ENSP00000445571:T320S	ENSP00000243776:T482S	T	-	2	0	CHPF	220113232	1.000000	0.71417	1.000000	0.80357	0.340000	0.28889	3.947000	0.56652	2.768000	0.95171	0.561000	0.74099	ACT		0.652	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130268.1	NM_024536		5	22	0	0	0	0.000602	0	5	22				
ALPPL2	251	broad.mit.edu	37	2	233272329	233272329	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr2:233272329C>A	ENST00000295453.3	+	4	378	c.326C>A	c.(325-327)cCa>cAa	p.P109Q		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	109					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	AAGCATGTGCCAGACAGTGGA	0.567																																							uc002vss.3		NA																	0				skin(1)	1						c.(325-327)CCA>CAA		placental-like alkaline phosphatase	Amifostine(DB01143)|Levamisole(DB00848)						62.0	53.0	56.0					2																	233272329		2203	4299	6502	SO:0001583	missense	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233272329C>A	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.326C>A	2.37:g.233272329C>A	ENSP00000295453:p.Pro109Gln						p.P109Q	NM_031313	NP_112603	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	4	379	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	109					A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	c.326C>A	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.975897	0.53720	.	.	ENSG00000163286	ENST00000295453	D	0.96300	-3.97	2.71	2.71	0.32032	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.111613	0.64402	D	0.000009	D	0.98689	0.9560	H	0.97516	4.02	0.50813	D	0.999899	D	0.89917	1.0	D	0.83275	0.996	D	0.99187	1.0869	10	0.87932	D	0	.	13.8099	0.63256	0.0:1.0:0.0:0.0	.	109	P10696	PPBN_HUMAN	Q	109	ENSP00000295453:P109Q	ENSP00000295453:P109Q	P	+	2	0	ALPPL2	232980573	0.934000	0.31675	0.731000	0.30826	0.442000	0.32017	7.171000	0.77595	1.499000	0.48617	0.205000	0.17691	CCA		0.567	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		3	29	1	0	2.56e-06	0.009096	3.45905e-06	3	29				
AQP12B	653437	broad.mit.edu	37	2	241622051	241622051	+	Silent	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr2:241622051C>A	ENST00000407834.3	-	1	266	c.204G>T	c.(202-204)ggG>ggT	p.G68G		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	56						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GCAGGTCAGGCCCAAAGTCCC	0.697																																							uc010fzj.2		NA																	0					0						c.(202-204)GGG>GGT		aquaporin 12B							46.0	48.0	47.0					2																	241622051		2203	4294	6497	SO:0001819	synonymous_variant	653437					integral to membrane	transporter activity	g.chr2:241622051C>A	BC041460	CCDS46560.1	2q37.3	2007-12-14	2005-05-26	2005-05-26	ENSG00000185176	ENSG00000185176		"""Ion channels / Aquaporins"""	6096	protein-coding gene	gene with protein product			"""insulin synthesis associated 3"""	INSSA3			Standard	NM_001102467		Approved		uc010fzj.3	A6NM10	OTTHUMG00000152263	ENST00000407834.3:c.204G>T	2.37:g.241622051C>A						AQP12B_uc002vzt.2_Intron	p.G68G	NM_001102467	NP_001095937	A6NM10	AQ12B_HUMAN		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)	1	267	-		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	56			Helical; Name=2; (Potential).		A4QPB9	Silent	SNP	ENST00000407834.3	37	c.204G>T	CCDS46560.1																																																																																				0.697	AQP12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325625.1			7	41	1	0	0.000157383	0.00308	0.000191048	7	41				
CDH22	64405	broad.mit.edu	37	20	44806629	44806629	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr20:44806629G>C	ENST00000372262.3	-	10	2271	c.1871C>G	c.(1870-1872)cCc>cGc	p.P624R	CDH22_ENST00000537909.1_Missense_Mutation_p.P624R	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	624					brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GAGGGCGCCGGGGCTGAGGGA	0.652																																							uc002xrm.2		NA																	0				ovary(4)|skin(1)	5						c.(1870-1872)CCC>CGC		cadherin 22 precursor							71.0	59.0	63.0					20																	44806629		2203	4300	6503	SO:0001583	missense	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44806629G>C	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1871C>G	20.37:g.44806629G>C	ENSP00000361336:p.Pro624Arg					CDH22_uc010ghk.1_Missense_Mutation_p.P624R	p.P624R	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN			10	2272	-		Myeloproliferative disorder(115;0.0122)	624			Extracellular (Potential).		B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	c.1871C>G	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.691076	0.68271	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.36699	1.24;1.24	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.36552	0.0971	N	0.24115	0.695	0.47214	D	0.999353	D	0.56521	0.976	P	0.52267	0.694	T	0.17930	-1.0353	10	0.45353	T	0.12	.	15.7828	0.78275	0.0:0.0:1.0:0.0	.	624	Q9UJ99	CAD22_HUMAN	R	624	ENSP00000361336:P624R;ENSP00000437790:P624R	ENSP00000361336:P624R	P	-	2	0	CDH22	44240036	1.000000	0.71417	0.927000	0.36925	0.974000	0.67602	6.194000	0.72082	2.303000	0.77524	0.655000	0.94253	CCC		0.652	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		4	33	0	0	0	0.001168	0	4	33				
PCK1	5105	broad.mit.edu	37	20	56139639	56139639	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr20:56139639G>A	ENST00000319441.4	+	8	1452	c.1288G>A	c.(1288-1290)Ggc>Agc	p.G430S	PCK1_ENST00000543666.1_Missense_Mutation_p.G113S|PCK1_ENST00000535860.1_3'UTR	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	430					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TCCCATTGAAGGCATTATCTT	0.567																																							uc002xyn.3		NA																	0				skin(1)	1						c.(1288-1290)GGC>AGC		cytosolic phosphoenolpyruvate carboxykinase 1							121.0	117.0	119.0					20																	56139639		2203	4300	6503	SO:0001583	missense	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56139639G>A		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.1288G>A	20.37:g.56139639G>A	ENSP00000319814:p.Gly430Ser					PCK1_uc010zzm.1_Missense_Mutation_p.G113S	p.G430S	NM_002591	NP_002582	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		8	1451	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		430					A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	ENST00000319441.4	37	c.1288G>A	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	G	32	5.122385	0.94429	.	.	ENSG00000124253	ENST00000540165;ENST00000319441;ENST00000543666	T;T	0.04317	3.65;3.65	5.8	5.8	0.92144	Phosphoenolpyruvate carboxykinase, C-terminal (1);	0.045618	0.85682	D	0.000000	T	0.12860	0.0312	L	0.56199	1.76	0.80722	D	1	B;P	0.44877	0.447;0.845	B;P	0.48488	0.409;0.579	T	0.00070	-1.2135	10	0.87932	D	0	-33.0062	20.063	0.97692	0.0:0.0:1.0:0.0	.	113;430	B4DT64;P35558	.;PCKGC_HUMAN	S	112;430;113	ENSP00000319814:G430S;ENSP00000445767:G113S	ENSP00000319814:G430S	G	+	1	0	PCK1	55573045	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	9.292000	0.96076	2.735000	0.93741	0.655000	0.94253	GGC		0.567	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			25	96	0	0	0	0.00278	0	25	96				
MYO18B	84700	broad.mit.edu	37	22	26193997	26193997	+	Silent	SNP	C	C	T	rs368897377		TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr22:26193997C>T	ENST00000407587.2	+	12	2623	c.2454C>T	c.(2452-2454)agC>agT	p.S818S	MYO18B_ENST00000536101.1_Silent_p.S818S|MYO18B_ENST00000335473.7_Silent_p.S818S			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	818	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCTCAGAGAGCGAGCAGCGGG	0.647																																							uc003abz.1		NA																	0				ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(2452-2454)AGC>AGT		myosin XVIIIB		C		0,3912		0,0,1956	44.0	46.0	45.0		2454	-8.4	0.0	22		45	1,8283		0,1,4141	no	coding-synonymous	MYO18B	NM_032608.5		0,1,6097	TT,TC,CC		0.0121,0.0,0.0082		818/2568	26193997	1,12195	1956	4142	6098	SO:0001819	synonymous_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26193997C>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.2454C>T	22.37:g.26193997C>T						MYO18B_uc003aca.1_Silent_p.S699S|MYO18B_uc010guy.1_Silent_p.S699S|MYO18B_uc010guz.1_Silent_p.S699S|MYO18B_uc011aka.1_Intron|MYO18B_uc011akb.1_Silent_p.S331S	p.S818S	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			12	2704	+			818			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37	c.2454C>T																																																																																					0.647	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		10	46	0	0	0	0.008291	0	10	46				
FGD5	152273	broad.mit.edu	37	3	14861995	14861996	+	Missense_Mutation	DNP	GC	GC	AG			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr3:14861995_14861996GC>AG	ENST00000285046.5	+	1	1527_1528	c.1417_1418GC>AG	c.(1417-1419)GCg>AGg	p.A473R	FGD5_ENST00000543601.1_Missense_Mutation_p.A232R	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	473					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCTGGTTCCCGCGGACAGGAAG	0.644																																							uc003bzc.2		NA																	0				ovary(3)|kidney(1)|pancreas(1)	5						c.(1417-1419)GCG>AGG		FYVE, RhoGEF and PH domain containing 5																																				SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14861995_14861996GC>AG	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	Exception_encountered	3.37:g.14861995_14861996delinsAG	ENSP00000285046:p.Ala473Arg					FGD5_uc011avk.1_Missense_Mutation_p.A473R	p.A473R	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			1	1527_1528	+			473					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	DNP	ENST00000285046.5	37	c.1417_1418GC>AG	CCDS46767.1																																																																																				0.644	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		4	39	0	0	0	0.004672	0	4	39				
TBC1D23	55773	broad.mit.edu	37	3	100016840	100016840	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr3:100016840G>T	ENST00000394144.4	+	9	957	c.950G>T	c.(949-951)tGt>tTt	p.C317F	TBC1D23_ENST00000344949.5_Missense_Mutation_p.C317F|TBC1D23_ENST00000475134.1_Missense_Mutation_p.C180F|TBC1D23_ENST00000486274.1_3'UTR	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	317					positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						CAGGCTCTTTGTCTGGCCATC	0.403																																							uc003dtt.2		NA																	0				ovary(1)|liver(1)	2						c.(949-951)TGT>TTT		TBC1 domain family, member 23							85.0	76.0	79.0					3																	100016840		2203	4300	6503	SO:0001583	missense	55773					intracellular	Rab GTPase activator activity	g.chr3:100016840G>T	AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.950G>T	3.37:g.100016840G>T	ENSP00000377700:p.Cys317Phe					TBC1D23_uc003dts.2_Missense_Mutation_p.C317F	p.C317F	NM_018309	NP_060779	Q9NUY8	TBC23_HUMAN			9	1127	+			317					B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Missense_Mutation	SNP	ENST00000394144.4	37	c.950G>T	CCDS56265.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688532	0.88639	.	.	ENSG00000036054	ENST00000344949;ENST00000394144;ENST00000475134	T;T;T	0.40476	1.04;1.03;1.06	5.62	5.62	0.85841	Rhodanese-like (2);	0.084401	0.85682	D	0.000000	T	0.67702	0.2921	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.67345	-0.5694	9	.	.	.	.	19.6405	0.95755	0.0:0.0:1.0:0.0	.	317;317	Q9NUY8;Q9NUY8-2	TBC23_HUMAN;.	F	317;317;180	ENSP00000340693:C317F;ENSP00000377700:C317F;ENSP00000418059:C180F	.	C	+	2	0	TBC1D23	101499530	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.955000	0.93058	2.638000	0.89438	0.585000	0.79938	TGT		0.403	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353150.1	NM_018309		5	24	1	0	0.000602214	0.000602	0.000704653	5	24				
SI	6476	broad.mit.edu	37	3	164735759	164735759	+	Splice_Site	SNP	C	C	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr3:164735759C>T	ENST00000264382.3	-	29	3581	c.3519G>A	c.(3517-3519)atG>atA	p.M1173I		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1173	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TTGTTTTACCCATTGCATTGC	0.343										HNSCC(35;0.089)																													uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(3517-3519)ATG>ATA		sucrase-isomaltase	Acarbose(DB00284)						100.0	99.0	99.0					3																	164735759		2203	4300	6503	SO:0001630	splice_region_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164735759C>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3520+1G>A	3.37:g.164735759C>T		HNSCC(35;0.089)					p.M1173I	NM_001041	NP_001032	P14410	SUIS_HUMAN			29	3581	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1173			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.3519G>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184095	0.78677	.	.	ENSG00000090402	ENST00000264382	D	0.85955	-2.05	5.17	5.17	0.71159	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.94215	0.8143	M	0.92649	3.33	0.58432	D	0.999999	D	0.89917	1.0	D	0.73708	0.981	D	0.94878	0.8036	10	0.59425	D	0.04	.	18.864	0.92283	0.0:1.0:0.0:0.0	.	1173	P14410	SUIS_HUMAN	I	1173	ENSP00000264382:M1173I	ENSP00000264382:M1173I	M	-	3	0	SI	166218453	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	6.740000	0.74832	2.689000	0.91719	0.491000	0.48974	ATG		0.343	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041	Missense_Mutation	4	52	0	0	0	0.009096	0	4	52				
ZBBX	79740	broad.mit.edu	37	3	167051692	167051692	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr3:167051692C>A	ENST00000392766.2	-	10	950	c.610G>T	c.(610-612)Gag>Tag	p.E204*	ZBBX_ENST00000307529.5_Nonsense_Mutation_p.E204*|ZBBX_ENST00000392767.2_Nonsense_Mutation_p.E204*|ZBBX_ENST00000392764.1_Nonsense_Mutation_p.E175*|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000455345.2_Nonsense_Mutation_p.E204*	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	204						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GAATTATTCTCCTCTTTGGGT	0.333																																							uc003fep.2		NA																	0				ovary(2)	2						c.(610-612)GAG>TAG		zinc finger, B-box domain containing							134.0	122.0	126.0					3																	167051692		1815	4074	5889	SO:0001587	stop_gained	79740					intracellular	zinc ion binding	g.chr3:167051692C>A	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.610G>T	3.37:g.167051692C>A	ENSP00000376519:p.Glu204*					ZBBX_uc011bpc.1_Nonsense_Mutation_p.E204*|ZBBX_uc003feq.2_Nonsense_Mutation_p.E175*	p.E204*	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN			10	933	-			204					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Nonsense_Mutation	SNP	ENST00000392766.2	37	c.610G>T	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	C	27.6	4.850264	0.91277	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	.	.	.	4.83	0.375	0.16188	.	0.534741	0.13547	U	0.379787	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-1.2706	6.1574	0.20346	0.0:0.4824:0.0:0.5176	.	.	.	.	X	204;204;204;204;175	.	ENSP00000305065:E204X	E	-	1	0	ZBBX	168534386	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-0.180000	0.09754	0.188000	0.20168	0.650000	0.86243	GAG		0.333	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		12	40	1	0	0.00136819	0.001368	0.0015607	12	40				
CRIPAK	285464	broad.mit.edu	37	4	1389481	1389481	+	Silent	SNP	C	C	T	rs149222149		TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr4:1389481C>T	ENST00000324803.4	+	1	4142	c.1182C>T	c.(1180-1182)ccC>ccT	p.P394P		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	394	Interaction with PAK1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P394P(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GTGGAGTGCCCGCCTGCTCAC	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		18050	0.0		0.001	False		,,,				2504	0.0						uc003gdf.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)		0						c.(1180-1182)CCC>CCT		cysteine-rich PAK1 inhibitor							197.0	191.0	193.0					4																	1389481		2203	4300	6503	SO:0001819	synonymous_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1389481C>T	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.1182C>T	4.37:g.1389481C>T							p.P394P	NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	4142	+			394			Interaction with PAK1.		Q8NB03	Silent	SNP	ENST00000324803.4	37	c.1182C>T	CCDS3349.1																																																																																				0.612	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		16	188	0	0	0	0.006122	0	16	188				
GPR78	27201	broad.mit.edu	37	4	8588864	8588864	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr4:8588864C>A	ENST00000382487.4	+	3	1283	c.866C>A	c.(865-867)gCc>gAc	p.A289D	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	289					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						AAGGCGGTGGCCGACCCGTTC	0.677																																							uc003glk.2		NA																	0				central_nervous_system(4)|ovary(2)	6						c.(865-867)GCC>GAC		G protein-coupled receptor 78							45.0	46.0	46.0					4																	8588864		2203	4300	6503	SO:0001583	missense	27201				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr4:8588864C>A	AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"""GPCR / Class A : Orphans"""	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.866C>A	4.37:g.8588864C>A	ENSP00000371927:p.Ala289Asp					CPZ_uc003gll.2_Intron	p.A289D	NM_080819	NP_543009	Q96P69	GPR78_HUMAN			3	1285	+			289			Helical; Name=7; (Potential).		Q8NGV3	Missense_Mutation	SNP	ENST00000382487.4	37	c.866C>A	CCDS3403.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.664705	0.47572	.	.	ENSG00000155269	ENST00000382487	T	0.38560	1.13	3.25	-5.72	0.02406	GPCR, rhodopsin-like superfamily (1);	0.272984	0.30126	U	0.010343	T	0.28101	0.0693	L	0.34521	1.04	0.09310	N	1	P	0.46987	0.888	P	0.48166	0.569	T	0.27123	-1.0083	10	0.72032	D	0.01	.	3.1828	0.06590	0.1076:0.4851:0.1447:0.2626	.	289	Q96P69	GPR78_HUMAN	D	289	ENSP00000371927:A289D	ENSP00000371927:A289D	A	+	2	0	GPR78	8639764	0.595000	0.26857	0.000000	0.03702	0.000000	0.00434	0.875000	0.28079	-1.534000	0.01743	-0.748000	0.03510	GCC		0.677	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1			13	29	1	0	2.27111e-07	0.001368	3.28371e-07	13	29				
SLC2A9	56606	broad.mit.edu	37	4	9836623	9836623	+	Missense_Mutation	SNP	G	G	T	rs375494538		TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr4:9836623G>T	ENST00000264784.3	-	11	1354	c.1301C>A	c.(1300-1302)cCg>cAg	p.P434Q	SLC2A9_ENST00000309065.3_Missense_Mutation_p.P405Q|SLC2A9_ENST00000506583.1_Missense_Mutation_p.P405Q	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	434					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	CAAGATGAACGGGATGCCACC	0.542																																							uc003gmc.2		NA																	0				ovary(3)	3						c.(1300-1302)CCG>CAG		solute carrier family 2, member 9 protein							86.0	76.0	79.0					4																	9836623		2203	4300	6503	SO:0001583	missense	56606				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	g.chr4:9836623G>T	AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.1301C>A	4.37:g.9836623G>T	ENSP00000264784:p.Pro434Gln					SLC2A9_uc003gmd.2_Missense_Mutation_p.P405Q	p.P434Q	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN			11	1362	-			434			Helical; Name=10; (Potential).		Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	ENST00000264784.3	37	c.1301C>A	CCDS3407.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.243188	0.58995	.	.	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065	T;T;T	0.77229	-1.08;-1.08;-1.08	5.39	5.39	0.77823	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.91095	0.7197	M	0.93763	3.455	0.53005	D	0.999962	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	D	0.93200	0.6591	10	0.87932	D	0	.	16.6197	0.84927	0.0:0.0:1.0:0.0	.	405;434	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	Q	405;434;405	ENSP00000422209:P405Q;ENSP00000264784:P434Q;ENSP00000311383:P405Q	ENSP00000264784:P434Q	P	-	2	0	SLC2A9	9445721	1.000000	0.71417	0.951000	0.38953	0.101000	0.19017	8.981000	0.93465	2.523000	0.85059	0.585000	0.79938	CCG		0.542	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1			6	54	1	0	6.5536e-12	0.00308	1.09387e-11	6	54				
AASDH	132949	broad.mit.edu	37	4	57220214	57220214	+	Silent	SNP	A	A	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr4:57220214A>G	ENST00000205214.6	-	8	1554	c.1374T>C	c.(1372-1374)ctT>ctC	p.L458L	AASDH_ENST00000434343.2_Intron|AASDH_ENST00000502617.1_Silent_p.L458L|AASDH_ENST00000513376.1_Silent_p.L358L|AASDH_ENST00000451613.1_Silent_p.L458L|AASDH_ENST00000602986.1_Silent_p.L305L|AASDH_ENST00000510762.1_5'Flank	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	458					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				CCTGTTGCACAAGTTCAATGT	0.358																																							uc003hbn.2		NA																	0				ovary(4)	4						c.(1372-1374)CTT>CTC		aminoadipate-semialdehyde dehydrogenase							81.0	76.0	78.0					4																	57220214		2202	4300	6502	SO:0001819	synonymous_variant	132949				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	g.chr4:57220214A>G	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.1374T>C	4.37:g.57220214A>G						AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Silent_p.L305L|AASDH_uc003hbo.2_Silent_p.L358L|AASDH_uc011cab.1_Intron|AASDH_uc010ihc.2_Silent_p.L458L|AASDH_uc003hbp.2_Silent_p.L458L	p.L458L	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN			8	1527	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	458					A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Silent	SNP	ENST00000205214.6	37	c.1374T>C	CCDS3504.1																																																																																				0.358	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		5	41	0	0	0	0.001168	0	5	41				
KIAA1109	84162	broad.mit.edu	37	4	123277052	123277052	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr4:123277052A>T	ENST00000264501.4	+	83	14780	c.14407A>T	c.(14407-14409)Aac>Tac	p.N4803Y	KIAA1109_ENST00000388738.3_Missense_Mutation_p.N4803Y			Q2LD37	K1109_HUMAN	KIAA1109	4803					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTCTAGCTACAACCATGAAAC	0.398																																							uc003ieh.2		NA																	0				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(14407-14409)AAC>TAC		fragile site-associated protein							149.0	143.0	145.0					4																	123277052		1875	4112	5987	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123277052A>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.14407A>T	4.37:g.123277052A>T	ENSP00000264501:p.Asn4803Tyr					KIAA1109_uc003iem.2_Missense_Mutation_p.N1159Y	p.N4803Y	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			81	14452	+			4803					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.14407A>T	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.907786	0.92107	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707;ENST00000431755	T;T;T	0.60299	0.2;0.2;0.2	5.76	5.76	0.90799	Fragile site-associated protein, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72598	0.3480	L	0.55990	1.75	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.997;0.999	T	0.75196	-0.3403	10	0.87932	D	0	.	16.0675	0.80893	1.0:0.0:0.0:0.0	.	4802;4803	Q2LD37-4;Q2LD37	.;K1109_HUMAN	Y	4803;4803;1472;404	ENSP00000264501:N4803Y;ENSP00000373390:N4803Y;ENSP00000410874:N1472Y	ENSP00000264501:N4803Y	N	+	1	0	KIAA1109	123496502	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.515000	0.81761	2.202000	0.70862	0.482000	0.46254	AAC		0.398	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		7	53	0	0	0	0.001984	0	7	53				
NAF1	92345	broad.mit.edu	37	4	164085389	164085389	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr4:164085389T>C	ENST00000274054.2	-	2	713	c.520A>G	c.(520-522)Aaa>Gaa	p.K174E	NAF1_ENST00000422287.2_Missense_Mutation_p.K174E	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	174					pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				AATTCATCTTTTGTTTTAAGA	0.313																																							uc003iqj.2		NA																	0				ovary(2)	2						c.(520-522)AAA>GAA		nuclear assembly factor 1 homolog isoform a							31.0	33.0	32.0					4																	164085389		2201	4300	6501	SO:0001583	missense	92345				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr4:164085389T>C		CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"""nuclear assembly factor 1 homolog (S. cerevisiae)"""			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.520A>G	4.37:g.164085389T>C	ENSP00000274054:p.Lys174Glu					NAF1_uc010iqw.1_Missense_Mutation_p.K174E|NAF1_uc003iqk.2_RNA	p.K174E	NM_138386	NP_612395	Q96HR8	NAF1_HUMAN			2	714	-	all_hematologic(180;0.166)	Prostate(90;0.109)	174					D3DP28|E9PAZ2	Missense_Mutation	SNP	ENST00000274054.2	37	c.520A>G	CCDS3803.1	.	.	.	.	.	.	.	.	.	.	T	17.73	3.462264	0.63513	.	.	ENSG00000145414	ENST00000422287;ENST00000274054	T;T	0.41400	1.14;1.0	4.95	4.95	0.65309	.	0.132327	0.49916	D	0.000135	T	0.37210	0.0995	L	0.36672	1.1	0.38368	D	0.944805	D;P	0.53151	0.958;0.919	P;B	0.46026	0.501;0.35	T	0.33879	-0.9851	10	0.42905	T	0.14	-28.3393	11.5689	0.50822	0.0:0.0:0.0:1.0	.	174;174	E9PAZ2;Q96HR8	.;NAF1_HUMAN	E	174	ENSP00000408963:K174E;ENSP00000274054:K174E	ENSP00000274054:K174E	K	-	1	0	NAF1	164304839	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.473000	0.45145	2.163000	0.67991	0.482000	0.46254	AAA		0.313	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		2	11	0	0	0	0.004672	0	2	11				
VEGFC	7424	broad.mit.edu	37	4	177609073	177609073	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr4:177609073G>T	ENST00000280193.2	-	5	1128	c.713C>A	c.(712-714)gCa>gAa	p.A238E	RP11-313E19.2_ENST00000504017.1_RNA|VEGFC_ENST00000507638.1_5'Flank|RP11-313E19.2_ENST00000509194.1_RNA	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	238					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		CTTGTTCGCTGCCTGACACCT	0.448																																							uc003ius.1		NA																	0				lung(5)	5						c.(712-714)GCA>GAA		vascular endothelial growth factor C							84.0	79.0	81.0					4																	177609073		1909	4130	6039	SO:0001583	missense	7424				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	g.chr4:177609073G>T	BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.713C>A	4.37:g.177609073G>T	ENSP00000280193:p.Ala238Glu						p.A238E	NM_005429	NP_005420	P49767	VEGFC_HUMAN		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)	5	1143	-		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)	238					B2R9Q8	Missense_Mutation	SNP	ENST00000280193.2	37	c.713C>A	CCDS43285.1	.	.	.	.	.	.	.	.	.	.	G	0.180	-1.063135	0.01950	.	.	ENSG00000150630	ENST00000280193	.	.	.	5.58	2.82	0.32997	.	0.574940	0.18137	N	0.150552	T	0.25419	0.0618	L	0.51422	1.61	0.09310	N	1	B	0.28128	0.201	B	0.21360	0.034	T	0.33599	-0.9862	9	0.02654	T	1	-2.0799	3.0574	0.06189	0.2247:0.1266:0.5198:0.129	.	238	P49767	VEGFC_HUMAN	E	238	.	ENSP00000280193:A238E	A	-	2	0	VEGFC	177846067	0.925000	0.31364	0.003000	0.11579	0.001000	0.01503	2.831000	0.48144	0.089000	0.17243	-2.185000	0.00314	GCA		0.448	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361991.1	NM_005429		10	35	1	0	7.48243e-07	0.006214	1.04846e-06	10	35				
CASP3	836	broad.mit.edu	37	4	185550429	185550429	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr4:185550429G>C	ENST00000308394.4	-	8	1093	c.831C>G	c.(829-831)caC>caG	p.H277Q	CASP3_ENST00000523916.1_Missense_Mutation_p.H277Q|CASP3_ENST00000393585.2_3'UTR|CASP3_ENST00000517513.1_3'UTR	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	277					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell homeostasis (GO:0001782)|cell fate commitment (GO:0045165)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte differentiation (GO:0030218)|execution phase of apoptosis (GO:0097194)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glial cell apoptotic process (GO:0034349)|heart development (GO:0007507)|hippo signaling (GO:0035329)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|keratinocyte differentiation (GO:0030216)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|proteolysis (GO:0006508)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|release of cytochrome c from mitochondria (GO:0001836)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:0097200)|peptidase activity (GO:0008233)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Minocycline(DB01017)	CATTTCTTTAGTGATAAAAAT	0.348																																							uc003iwh.2		NA																	0				kidney(1)	1						c.(829-831)CAC>CAG		caspase 3 preproprotein	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)						131.0	147.0	141.0					4																	185550429		2202	4300	6502	SO:0001583	missense	836				activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding	g.chr4:185550429G>C	BC016926	CCDS3836.1	4q34	2008-02-05	2005-08-17		ENSG00000164305	ENSG00000164305		"""Caspases"""	1504	protein-coding gene	gene with protein product		600636	"""caspase 3, apoptosis-related cysteine protease"""			8780721	Standard	NM_004346		Approved	CPP32, CPP32B, Yama, apopain	uc003iwi.3	P42574	OTTHUMG00000133681	ENST00000308394.4:c.831C>G	4.37:g.185550429G>C	ENSP00000311032:p.His277Gln					CASP3_uc003iwg.2_3'UTR|CASP3_uc003iwi.2_Missense_Mutation_p.H277Q	p.H277Q	NM_004346	NP_004337	P42574	CASP3_HUMAN		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	8	1094	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)	277					A8K5M2|D3DP53|Q96AN1|Q96KP2	Missense_Mutation	SNP	ENST00000308394.4	37	c.831C>G	CCDS3836.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.718725	0.30503	.	.	ENSG00000164305	ENST00000308394;ENST00000523916	T;T	0.02216	4.39;4.39	5.03	2.31	0.28768	Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (1);	0.577928	0.19243	N	0.119119	T	0.01730	0.0055	L	0.28649	0.875	0.80722	D	1	B	0.32693	0.38	B	0.21360	0.034	T	0.60959	-0.7159	10	0.48119	T	0.1	.	7.1886	0.25813	0.1443:0.2602:0.5955:0.0	.	277	P42574	CASP3_HUMAN	Q	277	ENSP00000311032:H277Q;ENSP00000428929:H277Q	ENSP00000311032:H277Q	H	-	3	2	CASP3	185787423	0.964000	0.33143	0.965000	0.40720	0.864000	0.49448	0.320000	0.19540	0.696000	0.31696	-0.150000	0.13652	CAC		0.348	CASP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257885.2	NM_004346		8	134	0	0	0	0.004482	0	8	134				
SEMA5A	9037	broad.mit.edu	37	5	9066557	9066557	+	Missense_Mutation	SNP	C	C	A	rs577756646		TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr5:9066557C>A	ENST00000382496.5	-	17	2940	c.2275G>T	c.(2275-2277)Ggc>Tgc	p.G759C		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	759	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CCACTGGTGCCGTCGCTAGAA	0.517																																							uc003jek.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2275-2277)GGC>TGC		semaphorin 5A precursor							164.0	158.0	160.0					5																	9066557		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9066557C>A	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2275G>T	5.37:g.9066557C>A	ENSP00000371936:p.Gly759Cys						p.G759C	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			17	2987	-			759			TSP type-1 4.|Extracellular (Potential).		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.2275G>T	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.499577	0.85176	.	.	ENSG00000112902	ENST00000382496	T	0.39229	1.09	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.63546	0.2520	L	0.61036	1.89	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.62586	-0.6823	10	0.56958	D	0.05	.	17.5918	0.87999	0.0:1.0:0.0:0.0	.	759	Q13591	SEM5A_HUMAN	C	759	ENSP00000371936:G759C	ENSP00000371936:G759C	G	-	1	0	SEMA5A	9119557	1.000000	0.71417	0.461000	0.27105	0.614000	0.37383	7.511000	0.81718	2.761000	0.94854	0.591000	0.81541	GGC		0.517	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			12	146	1	0	0.000978159	0.000978	0.00113287	12	146				
RXFP3	51289	broad.mit.edu	37	5	33937383	33937383	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr5:33937383C>A	ENST00000330120.3	+	1	893	c.538C>A	c.(538-540)Cgc>Agc	p.R180S		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	180					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GAGTGTGACGCGCTACCATTC	0.627																																							uc003jic.1		NA																	0				upper_aerodigestive_tract(1)	1						c.(538-540)CGC>AGC		relaxin/insulin-like family peptide receptor 3							78.0	76.0	77.0					5																	33937383		2203	4300	6503	SO:0001583	missense	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33937383C>A	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.538C>A	5.37:g.33937383C>A	ENSP00000328708:p.Arg180Ser						p.R180S	NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN			1	895	+			180			Cytoplasmic (Potential).		Q14DA5	Missense_Mutation	SNP	ENST00000330120.3	37	c.538C>A	CCDS3900.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.782108	0.70222	.	.	ENSG00000182631	ENST00000330120	D	0.97161	-4.27	5.53	5.53	0.82687	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99137	0.9702	H	0.98883	4.36	0.47153	D	0.999332	D	0.89917	1.0	D	0.91635	0.999	D	0.98850	1.0758	10	0.87932	D	0	-34.1242	14.3298	0.66548	0.1482:0.8518:0.0:0.0	.	180	Q9NSD7	RL3R1_HUMAN	S	180	ENSP00000328708:R180S	ENSP00000328708:R180S	R	+	1	0	RXFP3	33973140	0.998000	0.40836	1.000000	0.80357	0.881000	0.50899	1.287000	0.33284	2.598000	0.87819	0.650000	0.86243	CGC		0.627	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		6	64	1	0	2.0095e-06	0.001984	2.73147e-06	6	64				
SPEF2	79925	broad.mit.edu	37	5	35649461	35649461	+	Splice_Site	SNP	A	A	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr5:35649461A>G	ENST00000356031.3	+	6	880		c.e6-1		SPEF2_ENST00000509059.1_Splice_Site|SPEF2_ENST00000440995.2_Splice_Site|SPEF2_ENST00000282469.6_Splice_Site	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2						axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTTTCTTTAAAGGATGTGGCT	0.303																																							uc003jjo.2		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.e6-2		KPL2 protein isoform 1							92.0	102.0	98.0					5																	35649461		2203	4298	6501	SO:0001630	splice_region_variant	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35649461A>G	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.727-1A>G	5.37:g.35649461A>G						SPEF2_uc003jjn.1_Splice_Site_p.D243_splice|SPEF2_uc003jjq.3_Splice_Site_p.D243_splice	p.D243_splice	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		6	838	+	all_lung(31;7.56e-05)							Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Splice_Site	SNP	ENST00000356031.3	37	c.727_splice	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	A	16.40	3.111580	0.56398	.	.	ENSG00000152582	ENST00000282469;ENST00000356031;ENST00000509059;ENST00000510777;ENST00000440995	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4324	0.50050	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPEF2	35685218	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	4.540000	0.60664	2.265000	0.75225	0.459000	0.35465	.		0.303	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722	Intron	8	81	0	0	0	0.00308	0	8	81				
GCNT4	51301	broad.mit.edu	37	5	74325583	74325583	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr5:74325583C>T	ENST00000322348.4	-	1	1141	c.280G>A	c.(280-282)Gac>Aac	p.D94N		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	94					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		TCAATGATGTCCCTTCTTCTT	0.403																																							uc003kdn.2		NA																	0				ovary(2)|skin(1)	3						c.(280-282)GAC>AAC		core 2 beta-1,6-N-acetylglucosaminyltransferase							172.0	162.0	166.0					5																	74325583		2203	4300	6503	SO:0001583	missense	51301				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr5:74325583C>T	AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	17973	protein-coding gene	gene with protein product	"""core 2 beta-1,6-N-acetylglucosaminyltransferase 3"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"""		"""glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.280G>A	5.37:g.74325583C>T	ENSP00000317027:p.Asp94Asn						p.D94N	NM_016591	NP_057675	Q9P109	GCNT4_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)	1	1142	-		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)	94			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000322348.4	37	c.280G>A	CCDS4026.1	.	.	.	.	.	.	.	.	.	.	.	8.515	0.867515	0.17250	.	.	ENSG00000176928	ENST00000322348	T	0.41065	1.01	6.14	3.31	0.37934	.	1.859620	0.02066	N	0.051132	T	0.30355	0.0762	N	0.20685	0.6	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18587	-1.0332	10	0.20519	T	0.43	-9.0173	6.9017	0.24286	0.0:0.5537:0.2944:0.1519	.	94	Q9P109	GCNT4_HUMAN	N	94	ENSP00000317027:D94N	ENSP00000317027:D94N	D	-	1	0	GCNT4	74361339	0.012000	0.17670	0.085000	0.20634	0.978000	0.69477	0.979000	0.29500	0.418000	0.25898	0.650000	0.86243	GAC		0.403	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254040.1	NM_016591		13	151	0	0	0	0.001368	0	13	151				
TTC37	9652	broad.mit.edu	37	5	94834075	94834075	+	Splice_Site	SNP	T	T	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr5:94834075T>A	ENST00000358746.2	-	33	3860	c.3562A>T	c.(3562-3564)Agc>Tgc	p.S1188C		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1188						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						AGAATTTACCTGTGAACAGCT	0.353																																							uc003klb.2		NA																	0				ovary(3)|pancreas(1)	4						c.(3562-3564)AGC>TGC		tetratricopeptide repeat domain 37							119.0	119.0	119.0					5																	94834075		2203	4300	6503	SO:0001630	splice_region_variant	9652						binding	g.chr5:94834075T>A	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.3563+1A>T	5.37:g.94834075T>A							p.S1188C	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN			33	3832	-			1188					O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	c.3562A>T	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.210820	0.79240	.	.	ENSG00000198677	ENST00000358746	T	0.37915	1.17	5.85	5.85	0.93711	Tetratricopeptide-like helical (1);	0.038556	0.85682	D	0.000000	T	0.55593	0.1930	L	0.60455	1.87	0.58432	D	0.999991	D	0.89917	1.0	D	0.69307	0.963	T	0.51896	-0.8647	10	0.37606	T	0.19	.	16.2421	0.82418	0.0:0.0:0.0:1.0	.	1188	Q6PGP7	TTC37_HUMAN	C	1188	ENSP00000351596:S1188C	ENSP00000351596:S1188C	S	-	1	0	TTC37	94859831	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	4.451000	0.60047	2.234000	0.73211	0.533000	0.62120	AGC		0.353	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639	Missense_Mutation	16	104	0	0	0	0.00499	0	16	104				
FBN2	2201	broad.mit.edu	37	5	127664387	127664387	+	Splice_Site	SNP	C	C	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr5:127664387C>T	ENST00000508053.1	-	40	5446		c.e40+1		FBN2_ENST00000507835.1_Missense_Mutation_p.G341D|FBN2_ENST00000508989.1_Missense_Mutation_p.G1458D|FBN2_ENST00000262464.4_Splice_Site			P35556	FBN2_HUMAN	fibrillin 2						anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGGTGACCCACCTTGGCAGGA	0.507																																							uc003kuu.2		NA																	0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.e34+1		fibrillin 2 precursor							109.0	89.0	96.0					5																	127664387		2203	4300	6503	SO:0001630	splice_region_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127664387C>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4471+1G>A	5.37:g.127664387C>T						FBN2_uc003kuv.2_Missense_Mutation_p.G1458D	p.D1491_splice	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	34	4910	-		all_cancers(142;0.0216)|Prostate(80;0.0551)						B4DU01|Q59ES6	Splice_Site	SNP	ENST00000508053.1	37	c.4471_splice	CCDS34222.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.5|25.5	4.646296|4.646296	0.87958|0.87958	.|.	.|.	ENSG00000138829|ENSG00000138829	ENST00000262464;ENST00000508053|ENST00000507835;ENST00000508989	.|D;D	.|0.88431	.|-2.38;-2.05	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	.|.	.|.	.|.	.|.	.|D	.|0.90967	.|0.7160	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	.|D	.|0.85034	.|0.0919	.|8	.|0.02654	.|T	.|1	.|.	19.1471|19.1471	0.93473|0.93473	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1458	.|D6RJI3	.|.	.|D	-1|341;1458	.|ENSP00000426839:G341D;ENSP00000425596:G1458D	.|ENSP00000426839:G341D	.|G	-|-	.|2	.|0	FBN2|FBN2	127692286|127692286	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.545000|7.545000	0.82128|0.82128	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	.|GGT		0.507	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	Intron	3	26	0	0	0	0.004672	0	3	26				
RAPGEF6	51735	broad.mit.edu	37	5	130766994	130766994	+	Silent	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr5:130766994C>A	ENST00000509018.1	-	26	4228	c.4023G>T	c.(4021-4023)tcG>tcT	p.S1341S	CTC-432M15.3_ENST00000514667.1_Silent_p.S1391S|RAPGEF6_ENST00000296859.6_Silent_p.S1349S|RAPGEF6_ENST00000507093.1_Silent_p.S1349S|RAPGEF6_ENST00000307984.5_Silent_p.S1354S	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1341	Ser-rich.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TGCTCACAGACGATGAGACAG	0.423																																					Melanoma(168;435 1955 13113 13877 23213)	Melanoma(168;435 1955 13113 13877 23213)	uc003kvn.1		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(4021-4023)TCG>TCT		PDZ domain-containing guanine nucleotide							84.0	84.0	84.0					5																	130766994		2203	4300	6503	SO:0001819	synonymous_variant	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130766994C>A	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.4023G>T	5.37:g.130766994C>A						RAPGEF6_uc003kvp.1_Silent_p.S1391S|RAPGEF6_uc003kvo.1_Silent_p.S1354S|RAPGEF6_uc010jdi.1_Silent_p.S1349S|RAPGEF6_uc010jdj.1_Silent_p.S1349S|RAPGEF6_uc003kvm.1_Silent_p.S264S	p.S1341S	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	26	4229	-			1341			Ser-rich.		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Silent	SNP	ENST00000509018.1	37	c.4023G>T	CCDS34225.1																																																																																				0.423	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		8	77	1	0	5.4927e-09	0.004482	8.59892e-09	8	77				
PCDHB2	56133	broad.mit.edu	37	5	140475031	140475031	+	Silent	SNP	C	C	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr5:140475031C>G	ENST00000194155.4	+	1	805	c.657C>G	c.(655-657)ggC>ggG	p.G219G		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	219	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTAGATGGCGGGAGTCCAC	0.552																																							uc003lil.2		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6						c.(655-657)GGC>GGG		protocadherin beta 2 precursor							40.0	43.0	42.0					5																	140475031		2203	4300	6503	SO:0001819	synonymous_variant	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475031C>G	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.657C>G	5.37:g.140475031C>G						PCDHB2_uc003lim.1_5'UTR	p.G219G	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	795	+			219			Extracellular (Potential).|Cadherin 2.		Q4KMU1	Silent	SNP	ENST00000194155.4	37	c.657C>G	CCDS4244.1																																																																																				0.552	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		6	39	0	0	0	0.001168	0	6	39				
PCDHB3	56132	broad.mit.edu	37	5	140482386	140482386	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr5:140482386G>T	ENST00000231130.2	+	1	2153	c.2153G>T	c.(2152-2154)aGg>aTg	p.R718M	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	718					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGAGGAGCAGGGCGGCCTCG	0.662																																							uc003lio.2		NA																	0				ovary(1)|pancreas(1)	2						c.(2152-2154)AGG>ATG		protocadherin beta 3 precursor							39.0	44.0	42.0					5																	140482386		2115	4092	6207	SO:0001583	missense	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140482386G>T	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.2153G>T	5.37:g.140482386G>T	ENSP00000231130:p.Arg718Met					uc003lin.2_5'Flank	p.R718M	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2153	+			718			Cytoplasmic (Potential).		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.2153G>T	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354886	0.61293	.	.	ENSG00000113205	ENST00000231130	T	0.14022	2.54	4.29	4.29	0.51040	.	.	.	.	.	T	0.36026	0.0952	M	0.87269	2.87	0.30531	N	0.767432	D	0.67145	0.996	P	0.60345	0.873	T	0.40869	-0.9540	9	0.59425	D	0.04	.	9.7905	0.40704	0.0993:0.0:0.9007:0.0	.	718	Q9Y5E6	PCDB3_HUMAN	M	718	ENSP00000231130:R718M	ENSP00000231130:R718M	R	+	2	0	PCDHB3	140462570	0.991000	0.36638	0.135000	0.22099	0.140000	0.21249	2.510000	0.45468	2.095000	0.63458	0.485000	0.47835	AGG		0.662	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		16	159	1	0	1.00905e-13	0.008871	1.7485e-13	16	159				
PCDHB4	56131	broad.mit.edu	37	5	140502251	140502251	+	Missense_Mutation	SNP	C	C	G	rs371060592		TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr5:140502251C>G	ENST00000194152.1	+	1	671	c.671C>G	c.(670-672)aCg>aGg	p.T224R	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	224	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGTCTGGCACGGTCATGGTT	0.547																																							uc003lip.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(670-672)ACG>AGG		protocadherin beta 4 precursor							130.0	119.0	123.0					5																	140502251		2203	4300	6503	SO:0001583	missense	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140502251C>G	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.671C>G	5.37:g.140502251C>G	ENSP00000194152:p.Thr224Arg						p.T224R	NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	671	+			224			Cadherin 2.|Extracellular (Potential).		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.671C>G	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.108182	0.37242	.	.	ENSG00000081818	ENST00000194152	T	0.55413	0.52	4.31	2.43	0.29744	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.76608	0.4011	M	0.91354	3.2	0.36412	D	0.863796	D	0.65815	0.995	D	0.75484	0.986	D	0.84925	0.0856	9	0.87932	D	0	.	14.173	0.65522	0.0:0.7137:0.2863:0.0	.	224	Q9Y5E5	PCDB4_HUMAN	R	224	ENSP00000194152:T224R	ENSP00000194152:T224R	T	+	2	0	PCDHB4	140482435	0.057000	0.20700	0.076000	0.20297	0.399000	0.30720	1.567000	0.36407	0.511000	0.28236	0.650000	0.86243	ACG		0.547	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		10	89	0	0	0	0.008291	0	10	89				
PCDHB4	56131	broad.mit.edu	37	5	140502701	140502701	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr5:140502701C>A	ENST00000194152.1	+	1	1121	c.1121C>A	c.(1120-1122)tCc>tAc	p.S374Y	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	374	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATAGAGATTCCGGAGAAAAT	0.408																																							uc003lip.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1120-1122)TCC>TAC		protocadherin beta 4 precursor							92.0	99.0	97.0					5																	140502701		2203	4300	6503	SO:0001583	missense	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140502701C>A	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1121C>A	5.37:g.140502701C>A	ENSP00000194152:p.Ser374Tyr						p.S374Y	NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1121	+			374			Cadherin 4.|Extracellular (Potential).		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.1121C>A	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.530371	0.64860	.	.	ENSG00000081818	ENST00000194152	T	0.53640	0.61	4.42	4.42	0.53409	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.80581	0.4650	H	0.97962	4.115	0.51233	D	0.999911	D	0.76494	0.999	D	0.76575	0.988	D	0.88596	0.3146	9	0.87932	D	0	.	17.5731	0.87940	0.0:1.0:0.0:0.0	.	374	Q9Y5E5	PCDB4_HUMAN	Y	374	ENSP00000194152:S374Y	ENSP00000194152:S374Y	S	+	2	0	PCDHB4	140482885	0.005000	0.15991	0.979000	0.43373	0.725000	0.41563	1.535000	0.36061	2.454000	0.82982	0.655000	0.94253	TCC		0.408	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		17	121	1	0	1.5739e-10	0.004007	2.57032e-10	17	121				
PCDHB8	56128	broad.mit.edu	37	5	140558333	140558333	+	Missense_Mutation	SNP	G	G	T	rs568936593		TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr5:140558333G>T	ENST00000239444.2	+	1	963	c.718G>T	c.(718-720)Gcc>Tcc	p.A240S	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	240	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATGATAATGCCCCTGAATT	0.507																																							uc011dai.1		NA																	0				skin(4)	4						c.(718-720)GCC>TCC		protocadherin beta 8 precursor							201.0	256.0	237.0					5																	140558333		2203	4300	6503	SO:0001583	missense	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140558333G>T	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.718G>T	5.37:g.140558333G>T	ENSP00000239444:p.Ala240Ser					PCDHB16_uc003liv.2_5'Flank	p.A240S	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	904	+			240			Cadherin 2.|Extracellular (Potential).		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.718G>T	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	g	11.34	1.609741	0.28623	.	.	ENSG00000120322	ENST00000239444	T	0.61274	0.12	4.25	3.36	0.38483	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.47525	0.1450	L	0.44542	1.39	0.26786	N	0.969503	B	0.14438	0.01	B	0.14578	0.011	T	0.39840	-0.9594	9	0.49607	T	0.09	.	8.0723	0.30697	0.0881:0.0:0.7576:0.1543	.	240	Q9UN66	PCDB8_HUMAN	S	240	ENSP00000239444:A240S	ENSP00000239444:A240S	A	+	1	0	PCDHB8	140538517	0.000000	0.05858	0.958000	0.39756	0.865000	0.49528	-0.114000	0.10757	1.911000	0.55334	0.585000	0.79938	GCC		0.507	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		26	391	1	0	1.17739e-12	0.005443	2.00954e-12	26	391				
PCDHB16	57717	broad.mit.edu	37	5	140568214	140568214	+	IGR	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr5:140568214C>A	ENST00000361016.2	+	0	4814					NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16						calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCAGGTCTCCGACGTCA	0.587																																							uc003liw.1		NA																	0					0						c.(1321-1323)GTC>GTA		protocadherin beta 9 precursor							146.0	141.0	143.0					5																	140568214		2203	4300	6503	SO:0001628	intergenic_variant	56127				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140568214C>A	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325		5.37:g.140568214C>A							p.V441V	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		3	1323	+			441			Extracellular (Potential).|Cadherin 4.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	c.1323C>A	CCDS4251.1																																																																																				0.587	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		37	157	1	0	3.78316e-11	0.00623	6.26844e-11	37	157				
PCDHB11	56125	broad.mit.edu	37	5	140581442	140581442	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr5:140581442T>C	ENST00000354757.3	+	1	2095	c.2095T>C	c.(2095-2097)Tcg>Ccg	p.S699P	PCDHB11_ENST00000536699.1_Missense_Mutation_p.S334P	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	699					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGGTGTCTTCGCTCTTCCT	0.687																																							uc003liy.2		NA																	0				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(2095-2097)TCG>CCG		protocadherin beta 11 precursor							92.0	93.0	93.0					5																	140581442		2202	4295	6497	SO:0001583	missense	56125				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140581442T>C	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.2095T>C	5.37:g.140581442T>C	ENSP00000346802:p.Ser699Pro					PCDHB11_uc011daj.1_Missense_Mutation_p.S334P	p.S699P	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2095	+			699			Helical; (Potential).		B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	c.2095T>C	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	t	17.01	3.279618	0.59758	.	.	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.13901	2.55;2.55	2.64	2.64	0.31445	.	.	.	.	.	T	0.43700	0.1259	H	0.96604	3.85	0.09310	N	1	D	0.56968	0.978	P	0.58266	0.836	T	0.40979	-0.9534	9	0.38643	T	0.18	.	10.6444	0.45610	0.0:0.0:0.0:1.0	.	699	Q9Y5F2	PCDBB_HUMAN	P	334;699	ENSP00000440344:S334P;ENSP00000346802:S699P	ENSP00000346802:S699P	S	+	1	0	PCDHB11	140561626	0.000000	0.05858	0.536000	0.28039	0.692000	0.40212	0.004000	0.13106	1.215000	0.43411	0.369000	0.22263	TCG		0.687	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		15	178	0	0	0	0.004007	0	15	178				
PCDHB18	54660	broad.mit.edu	37	5	140615613	140615613	+	RNA	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr5:140615613C>A	ENST00000526308.1	+	0	1676					NR_001281.1		Q96TA0	PCDBI_HUMAN	protocadherin beta 18 pseudogene						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						CCCCAGGACCCGCACCTGCCC	0.642																																							uc003ljc.1		NA																	0				ovary(1)	1						c.(1327-1329)CCG>CAG		SubName: Full=Similar to protocadherin-3 (Pcdh3);																																						54660							g.chr5:140615613C>A	AF152528		5q31.3	2014-03-20			ENSG00000146001	ENSG00000146001		"""Cadherins / Protocadherins : Clustered"""	14548	pseudogene	pseudogene						10380929	Standard	NR_001281		Approved	PCDH-psi2	uc003ljc.1	Q96TA0	OTTHUMG00000167484		5.37:g.140615613C>A							p.P443Q	NR_001281						1	1676	+								B3KTF8	Missense_Mutation	SNP	ENST00000526308.1	37	c.1328C>A																																																																																					0.642	PCDHB18-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000394776.1			18	236	1	0	9.16793e-09	0.00499	1.41573e-08	18	236				
PCDHGB6	56100	broad.mit.edu	37	5	140787938	140787938	+	Missense_Mutation	SNP	A	A	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr5:140787938A>T	ENST00000520790.1	+	1	169	c.169A>T	c.(169-171)Agt>Tgt	p.S57C	PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	57	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTAGGGCTCAGTGTCCTGGA	0.597																																							uc003lkj.1		NA																	0					0						c.(169-171)AGT>TGT		protocadherin gamma subfamily B, 6 isoform 1							69.0	74.0	72.0					5																	140787938		1976	4160	6136	SO:0001583	missense	56100				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140787938A>T	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.169A>T	5.37:g.140787938A>T	ENSP00000428603:p.Ser57Cys					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_uc003lki.1_Missense_Mutation_p.S57C	p.S57C	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	169	+			57			Extracellular (Potential).|Cadherin 1.		Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	c.169A>T	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	a	17.14	3.314010	0.60414	.	.	ENSG00000253305	ENST00000520790	T	0.29397	1.57	5.38	4.21	0.49690	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.56441	0.1985	M	0.89715	3.055	0.09310	N	1	D;D	0.67145	0.996;0.99	D;P	0.67231	0.95;0.831	T	0.52771	-0.8531	9	0.87932	D	0	.	5.3383	0.15969	0.6588:0.1454:0.1958:0.0	.	57;57	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	C	57	ENSP00000428603:S57C	ENSP00000428603:S57C	S	+	1	0	PCDHGB6	140768122	0.000000	0.05858	0.997000	0.53966	0.915000	0.54546	0.237000	0.17985	0.874000	0.35823	0.383000	0.25322	AGT		0.597	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		8	54	0	0	0	0.006214	0	8	54				
SPINK5	11005	broad.mit.edu	37	5	147499581	147499581	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr5:147499581G>C	ENST00000256084.7	+	25	2365	c.2323G>C	c.(2323-2325)Gat>Cat	p.D775H	SPINK5_ENST00000398454.1_Missense_Mutation_p.D775H|SPINK5_ENST00000359874.3_Missense_Mutation_p.D775H	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	775	Kazal-like 12. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATACATGTGATGAGTTTAG	0.393																																							uc003lox.2		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(2323-2325)GAT>CAT		serine peptidase inhibitor, Kazal type 5 isoform							61.0	54.0	56.0					5																	147499581		1840	4096	5936	SO:0001583	missense	11005				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	g.chr5:147499581G>C	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.2323G>C	5.37:g.147499581G>C	ENSP00000256084:p.Asp775His					SPINK5_uc010jgr.2_Missense_Mutation_p.D756H|SPINK5_uc003low.2_Missense_Mutation_p.D775H|SPINK5_uc003loy.2_Missense_Mutation_p.D775H	p.D775H	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		25	2396	+			775			Kazal-like 12.		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	c.2323G>C	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.945247	0.53079	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.06768	3.26;3.26;3.26;3.26	5.56	4.67	0.58626	Proteinase inhibitor I1, Kazal (1);	0.286974	0.29799	N	0.011161	T	0.18045	0.0433	L	0.46157	1.445	0.29579	N	0.84928	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.991;0.998;0.999;0.999	T	0.02138	-1.1207	10	0.22706	T	0.39	-29.7827	9.6697	0.40004	0.0929:0.0:0.9071:0.0	.	756;775;775;775	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	H	775;775;756;775	ENSP00000381472:D775H;ENSP00000352936:D775H;ENSP00000421519:D756H;ENSP00000256084:D775H	ENSP00000256084:D775H	D	+	1	0	SPINK5	147479774	1.000000	0.71417	0.992000	0.48379	0.552000	0.35366	2.170000	0.42443	2.792000	0.96026	0.557000	0.71058	GAT		0.393	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		8	24	0	0	0	0.00308	0	8	24				
TENM2	57451	broad.mit.edu	37	5	167643912	167643912	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr5:167643912C>A	ENST00000518659.1	+	22	4257	c.4218C>A	c.(4216-4218)agC>agA	p.S1406R	TENM2_ENST00000403607.2_Missense_Mutation_p.S1230R|TENM2_ENST00000519204.1_Missense_Mutation_p.S1285R|TENM2_ENST00000545108.1_Missense_Mutation_p.S1405R|TENM2_ENST00000520394.1_Missense_Mutation_p.S1167R	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1406					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GTGATTCCAGCATGGATGTAG	0.527																																							uc010jjd.2		NA																	0				ovary(6)|central_nervous_system(4)	10						c.(4189-4191)AGC>AGA		odz, odd Oz/ten-m homolog 2							91.0	91.0	91.0					5																	167643912		1992	4185	6177	SO:0001583	missense	57451							g.chr5:167643912C>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.4218C>A	5.37:g.167643912C>A	ENSP00000429430:p.Ser1406Arg					ODZ2_uc003lzr.3_Missense_Mutation_p.S1167R|ODZ2_uc003lzt.3_Missense_Mutation_p.S770R|ODZ2_uc010jje.2_Missense_Mutation_p.S661R	p.S1397R	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	22	4191	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.4191C>A		.	.	.	.	.	.	.	.	.	.	C	18.14	3.557619	0.65425	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89746	-2.09;-2.08;-2.19;-2.55;-2.56	5.42	3.65	0.41850	Six-bladed beta-propeller, TolB-like (1);	0.035280	0.85682	D	0.000000	D	0.89736	0.6801	L	0.39326	1.205	0.50467	D	0.999878	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.78314	0.991;0.979;0.988	D	0.85542	0.1216	10	0.23302	T	0.38	.	9.2732	0.37684	0.0:0.7815:0.0:0.2185	.	1405;1406;1167	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	R	1406;1405;1285;1167;1230	ENSP00000429430:S1406R;ENSP00000438635:S1405R;ENSP00000428964:S1285R;ENSP00000427874:S1167R;ENSP00000384905:S1230R	ENSP00000384905:S1230R	S	+	3	2	ODZ2	167576490	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.357000	0.52277	0.670000	0.31165	0.655000	0.94253	AGC		0.527	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		14	80	1	0	3.27435e-08	0.00245	4.95519e-08	14	80				
FAF2	23197	broad.mit.edu	37	5	175927110	175927110	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr5:175927110G>T	ENST00000261942.6	+	10	1171	c.1118G>T	c.(1117-1119)cGa>cTa	p.R373L		NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	373	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.				lipid particle organization (GO:0034389)|negative regulation of catalytic activity (GO:0043086)|response to unfolded protein (GO:0006986)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	lipase binding (GO:0035473)|lipase inhibitor activity (GO:0055102)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						AATGATTCTCGAGTAGAGAGA	0.438																																							uc003mej.3		NA																	0				ovary(1)	1						c.(1117-1119)CGA>CTA		UBX domain containing 8							121.0	116.0	118.0					5																	175927110		2203	4300	6503	SO:0001583	missense	23197				response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding	g.chr5:175927110G>T	BC015791	CCDS34296.1	5q35.2	2011-06-28	2008-07-25	2008-07-25	ENSG00000113194	ENSG00000113194		"""UBX domain containing"""	24666	protein-coding gene	gene with protein product	"""expressed in T cells and eosinophils in atopic dermatitis"", ""UBX domain protein 3B"""		"""UBX domain containing 8"""	UBXD8		10048485, 12372427	Standard	NM_014613		Approved	ETEA, KIAA0887, UBXN3B	uc003mej.4	Q96CS3	OTTHUMG00000163228	ENST00000261942.6:c.1118G>T	5.37:g.175927110G>T	ENSP00000261942:p.Arg373Leu						p.R373L	NM_014613	NP_055428	Q96CS3	FAF2_HUMAN			10	1171	+			373			UBX.		O94963|Q8IUF2|Q9BRP2|Q9BVM7	Missense_Mutation	SNP	ENST00000261942.6	37	c.1118G>T	CCDS34296.1	.	.	.	.	.	.	.	.	.	.	G	33	5.230546	0.95207	.	.	ENSG00000113194	ENST00000261942	.	.	.	5.26	5.26	0.73747	UBX (2);	0.000000	0.85682	D	0.000000	D	0.84763	0.5544	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87192	0.2235	9	0.66056	D	0.02	-8.4798	18.8718	0.92319	0.0:0.0:1.0:0.0	.	373	Q96CS3	FAF2_HUMAN	L	373	.	ENSP00000261942:R373L	R	+	2	0	FAF2	175859716	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.388000	0.97237	2.447000	0.82792	0.650000	0.86243	CGA		0.438	FAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372194.1	NM_014613		8	103	1	0	0.000442599	0.006214	0.000526021	8	103				
DSP	1832	broad.mit.edu	37	6	7584233	7584233	+	Silent	SNP	T	T	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr6:7584233T>A	ENST00000379802.3	+	24	7079	c.6738T>A	c.(6736-6738)gtT>gtA	p.V2246V	DSP_ENST00000418664.2_Silent_p.V1647V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2246	4.5 X 38 AA tandem repeats (Domain B).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATGACGAGGTTGGTGAGAGAA	0.443																																							uc003mxp.1		NA																	0				central_nervous_system(6)|ovary(2)|skin(1)	9						c.(6736-6738)GTT>GTA		desmoplakin isoform I							79.0	76.0	77.0					6																	7584233		2203	4300	6503	SO:0001819	synonymous_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7584233T>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.6738T>A	6.37:g.7584233T>A						DSP_uc003mxq.1_Silent_p.V1647V	p.V2246V	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	7017	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2246			Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	c.6738T>A	CCDS4501.1																																																																																				0.443	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		14	33	0	0	0	0.001855	0	14	33				
BLOC1S5-TXNDC5	100526836	broad.mit.edu	37	6	7986871	7986871	+	Intron	SNP	C	C	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr6:7986871C>T	ENST00000439343.2	-	4	372				TXNDC5_ENST00000539054.1_Intron					BLOC1S5-TXNDC5 readthrough (NMD candidate)																		GAATCTTGAGCCCCACGGCAT	0.557																																							uc003mxx.3		NA																	0					0						c.(100-102)AGC>AGT		RecName: Full=Phosphatidylinositol-4-phosphate 5-kinase type-1 alpha;          Short=PtdIns(4)P-5-kinase alpha;          Short=PIP5KIalpha;          EC=2.7.1.68; AltName: Full=Phosphatidylinositol-4-phosphate 5-kinase type I alpha; AltName: Full=68 kDa type I phosphatidylinositol-4-phosphate 5-kinase alpha;																																				SO:0001627	intron_variant	206426							g.chr6:7986871C>T			6p24.3	2013-05-09	2013-05-09	2012-08-01	ENSG00000259040	ENSG00000259040			42001	other	readthrough			"""MUTED-TXNDC5 readthrough (non-protein coding)"""	MUTED-TXNDC5			Standard	NR_037616		Approved				OTTHUMG00000171453	ENST00000439343.2:c.372+39728G>A	6.37:g.7986871C>T						TXNDC5_uc003mxw.2_Intron	p.S34S	NR_027712						1	537	+									Silent	SNP	ENST00000439343.2	37	c.102C>T																																																																																					0.557	BLOC1S5-TXNDC5-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000413472.1	NR_037616.1		7	18	0	0	0	0.001984	0	7	18				
ZNF451	26036	broad.mit.edu	37	6	57013339	57013339	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr6:57013339G>T	ENST00000370706.4	+	10	2700	c.2456G>T	c.(2455-2457)aGt>aTt	p.S819I	RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.S819I|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.S819I|RP11-203B9.4_ENST00000586466.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	819					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CAGAAACCCAGTGTGGCTCAT	0.398																																							uc003pdm.1		NA																	0				ovary(1)|pancreas(1)	2						c.(2455-2457)AGT>ATT		zinc finger protein 451 isoform 1							93.0	90.0	91.0					6																	57013339		2203	4300	6503	SO:0001583	missense	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:57013339G>T	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.2456G>T	6.37:g.57013339G>T	ENSP00000359740:p.Ser819Ile					ZNF451_uc003pdl.2_Missense_Mutation_p.S819I|ZNF451_uc003pdn.1_Missense_Mutation_p.S819I|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.S819I	p.S819I	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		10	2680	+	Lung NSC(77;0.145)		819					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	c.2456G>T	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	G	5.422	0.263093	0.10294	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	T;T;T	0.18657	3.3;2.2;3.3	5.32	-1.11	0.09840	.	0.808524	0.11722	N	0.535764	T	0.04318	0.0119	L	0.44542	1.39	0.09310	N	1	B;B;B;B	0.27416	0.178;0.052;0.138;0.138	B;B;B;B	0.21151	0.033;0.02;0.02;0.02	T	0.37197	-0.9716	10	0.51188	T	0.08	0.2091	0.6264	0.00786	0.3382:0.1227:0.2922:0.2469	.	819;819;819;819	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	I	819	ENSP00000359740:S819I;ENSP00000350083:S819I;ENSP00000421645:S819I	ENSP00000350083:S819I	S	+	2	0	ZNF451	57121298	0.000000	0.05858	0.000000	0.03702	0.378000	0.30076	0.325000	0.19628	-0.188000	0.10499	0.650000	0.86243	AGT		0.398	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		8	46	1	0	0.000274275	0.004482	0.000327687	8	46				
COL19A1	1310	broad.mit.edu	37	6	70812089	70812089	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr6:70812089G>T	ENST00000322773.4	+	16	1355	c.1253G>T	c.(1252-1254)gGa>gTa	p.G418V	COL19A1_ENST00000393344.1_Missense_Mutation_p.G40V	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	418	Collagen-like 3.|Triple-helical region 2 (COL2).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.G418E(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGACCTCCCGGAAAACCAGGA	0.373																																							uc003pfc.1		NA																	1	Substitution - Missense(1)		skin(1)	ovary(2)|breast(2)	4						c.(1252-1254)GGA>GTA		alpha 1 type XIX collagen precursor							101.0	105.0	104.0					6																	70812089		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70812089G>T		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1253G>T	6.37:g.70812089G>T	ENSP00000316030:p.Gly418Val					COL19A1_uc010kam.1_Missense_Mutation_p.G314V	p.G418V	NM_001858	NP_001849	Q14993	COJA1_HUMAN			16	1370	+			418			Triple-helical region 2 (COL2).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.1253G>T	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.795627	0.31777	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.99637	-6.29;-6.29	5.33	4.45	0.53987	.	0.148000	0.42172	D	0.000752	D	0.99354	0.9773	H	0.98005	4.125	0.58432	D	0.999997	B	0.30709	0.291	B	0.32864	0.154	D	0.99894	1.1143	10	0.72032	D	0.01	.	14.1627	0.65457	0.0:0.0:0.8504:0.1496	.	418	Q14993	COJA1_HUMAN	V	418;40	ENSP00000316030:G418V;ENSP00000377013:G40V	ENSP00000316030:G418V	G	+	2	0	COL19A1	70868810	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.358000	0.59442	1.352000	0.45808	0.561000	0.74099	GGA		0.373	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			7	89	1	0	5.18039e-06	0.00308	6.79739e-06	7	89				
GRIK2	2898	broad.mit.edu	37	6	102307276	102307276	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr6:102307276T>C	ENST00000421544.1	+	10	1922	c.1432T>C	c.(1432-1434)Tat>Cat	p.Y478H	GRIK2_ENST00000318991.6_Missense_Mutation_p.Y478H|GRIK2_ENST00000413795.1_Missense_Mutation_p.Y478H|GRIK2_ENST00000369137.3_Missense_Mutation_p.Y478H|GRIK2_ENST00000369138.1_Missense_Mutation_p.Y478H|GRIK2_ENST00000369134.4_Missense_Mutation_p.Y429H	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	478					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TGGCTTTACATATGAAATTAG	0.393																																							uc003pqp.3		NA																	0				ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(1432-1434)TAT>CAT		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						138.0	129.0	132.0					6																	102307276		2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102307276T>C		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.1432T>C	6.37:g.102307276T>C	ENSP00000397026:p.Tyr478His					GRIK2_uc003pqn.2_Missense_Mutation_p.Y478H|GRIK2_uc003pqo.3_Missense_Mutation_p.Y478H|GRIK2_uc010kcw.2_Missense_Mutation_p.Y478H	p.Y478H	NM_021956	NP_068775	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	10	1681	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	478			Extracellular (Potential).		A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.1432T>C	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.636927	0.87760	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076;ENST00000436862	D;D;D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37;-2.37;-2.37	4.91	4.91	0.64330	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.95614	0.8574	H	0.95574	3.69	0.50313	D	0.999866	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.997;0.994	D	0.96978	0.9713	10	0.87932	D	0	.	14.8302	0.70142	0.0:0.0:0.0:1.0	.	478;478;478	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	H	478;478;478;478;478;478;429;440;77	ENSP00000397026:Y478H;ENSP00000405596:Y478H;ENSP00000358134:Y478H;ENSP00000358133:Y478H;ENSP00000313276:Y478H;ENSP00000358130:Y429H;ENSP00000407140:Y77H	ENSP00000313276:Y478H	Y	+	1	0	GRIK2	102413969	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.648000	0.83479	1.944000	0.56390	0.482000	0.46254	TAT		0.393	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			9	56	0	0	0	0.006214	0	9	56				
RFX6	222546	broad.mit.edu	37	6	117237203	117237203	+	Missense_Mutation	SNP	C	C	A	rs371868401		TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr6:117237203C>A	ENST00000332958.2	+	8	829	c.813C>A	c.(811-813)caC>caA	p.H271Q	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	271					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						ACAAAACTCACTGCCAGTGTA	0.333																																							uc003pxm.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(811-813)CAC>CAA		regulatory factor X, 6							130.0	130.0	130.0					6																	117237203		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117237203C>A	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.813C>A	6.37:g.117237203C>A	ENSP00000332208:p.His271Gln						p.H271Q	NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN			8	876	+			271					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.813C>A	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024556	0.75390	.	.	ENSG00000185002	ENST00000332958	T	0.73897	-0.79	5.97	3.17	0.36434	.	0.095386	0.64402	D	0.000001	T	0.81034	0.4739	M	0.84219	2.685	0.53688	D	0.999975	D	0.89917	1.0	D	0.91635	0.999	T	0.82458	-0.0447	10	0.87932	D	0	-20.8311	10.0377	0.42139	0.0:0.7736:0.0:0.2264	.	271	Q8HWS3	RFX6_HUMAN	Q	271	ENSP00000332208:H271Q	ENSP00000332208:H271Q	H	+	3	2	RFX6	117343896	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.557000	0.36299	0.377000	0.24735	-0.224000	0.12420	CAC		0.333	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		12	57	1	0	4.3838e-07	0.001855	6.21952e-07	12	57				
ROS1	6098	broad.mit.edu	37	6	117665282	117665282	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr6:117665282C>A	ENST00000368508.3	-	27	4663	c.4465G>T	c.(4465-4467)Gtt>Ttt	p.V1489F	ROS1_ENST00000368507.3_Missense_Mutation_p.V1483F|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1489	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GCATAATAAACCAGGTATGTT	0.398			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																		uc003pxp.1		NA		Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		0				lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(4465-4467)GTT>TTT		proto-oncogene c-ros-1 protein precursor							213.0	203.0	206.0					6																	117665282		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117665282C>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.4465G>T	6.37:g.117665282C>A	ENSP00000357494:p.Val1489Phe					ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	p.V1489F	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	27	4664	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1489			Extracellular (Potential).|Fibronectin type-III 6.		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.4465G>T	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058896	0.36277	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.62498	0.02;0.02	5.16	3.33	0.38152	.	0.107097	0.41001	D	0.000965	T	0.39937	0.1097	L	0.29908	0.895	0.80722	D	1	P	0.50443	0.935	P	0.48114	0.567	T	0.43228	-0.9404	10	0.87932	D	0	.	7.8826	0.29631	0.0:0.7498:0.161:0.0892	.	1489	P08922	ROS1_HUMAN	F	1489;1483	ENSP00000357494:V1489F;ENSP00000357493:V1483F	ENSP00000357493:V1483F	V	-	1	0	ROS1	117771975	1.000000	0.71417	0.957000	0.39632	0.054000	0.15201	1.797000	0.38804	0.645000	0.30675	0.561000	0.74099	GTT		0.398	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			4	56	1	0	1.024e-07	0.000602	1.51927e-07	4	56				
CLVS2	134829	broad.mit.edu	37	6	123377007	123377007	+	Missense_Mutation	SNP	C	C	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr6:123377007C>G	ENST00000275162.5	+	5	2067	c.732C>G	c.(730-732)atC>atG	p.I244M	CLVS2_ENST00000368438.1_Missense_Mutation_p.I98M	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	244	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						ATCCTGAGATCCTGCCCTCTG	0.453																																							uc003pzi.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(730-732)ATC>ATG		retinaldehyde binding protein 1-like 2							188.0	159.0	168.0					6																	123377007		2203	4300	6503	SO:0001583	missense	134829				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr6:123377007C>G	AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 212"", ""chromosome 6 open reading frame 213"", ""retinaldehyde binding protein 1-like 2"""	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.732C>G	6.37:g.123377007C>G	ENSP00000275162:p.Ile244Met						p.I244M	NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN			5	1601	+			244			CRAL-TRIO.		B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Missense_Mutation	SNP	ENST00000275162.5	37	c.732C>G	CCDS34525.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351004	0.61183	.	.	ENSG00000146352	ENST00000275162;ENST00000368438	T;T	0.75367	-0.93;-0.93	5.91	0.14	0.14804	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	T	0.74176	0.3682	M	0.76574	2.34	0.51233	D	0.999913	D	0.53462	0.96	P	0.57960	0.83	T	0.76506	-0.2934	10	0.62326	D	0.03	-17.9504	11.2227	0.48864	0.0:0.4601:0.0:0.5399	.	244	Q5SYC1	CLVS2_HUMAN	M	244;98	ENSP00000275162:I244M;ENSP00000357423:I98M	ENSP00000275162:I244M	I	+	3	3	CLVS2	123418706	0.997000	0.39634	0.999000	0.59377	0.987000	0.75469	0.629000	0.24538	0.066000	0.16515	-0.345000	0.07892	ATC		0.453	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042042.2	NM_001010852		5	79	0	0	0	0.001168	0	5	79				
MOXD1	26002	broad.mit.edu	37	6	132695862	132695862	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr6:132695862G>A	ENST00000367963.3	-	2	437	c.319C>T	c.(319-321)Cat>Tat	p.H107Y	MOXD1_ENST00000336749.3_Missense_Mutation_p.H39Y	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	107	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		TATTCTAGATGGTAATCTTGC	0.338																																							uc003qdf.2		NA																	0				ovary(1)	1						c.(319-321)CAT>TAT		monooxygenase, DBH-like 1 isoform 2							199.0	187.0	191.0					6																	132695862		2203	4300	6503	SO:0001583	missense	26002				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	g.chr6:132695862G>A	AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.319C>T	6.37:g.132695862G>A	ENSP00000356940:p.His107Tyr					MOXD1_uc003qde.2_Missense_Mutation_p.H39Y	p.H107Y	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)	2	418	-	Breast(56;0.0495)		107			Lumenal (Potential).|DOMON.		Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Missense_Mutation	SNP	ENST00000367963.3	37	c.319C>T	CCDS5152.2	.	.	.	.	.	.	.	.	.	.	G	15.16	2.750750	0.49257	.	.	ENSG00000079931	ENST00000367963;ENST00000336749	T;T	0.76316	-1.01;-1.01	5.62	5.62	0.85841	DOMON domain (3);	0.332397	0.32952	N	0.005460	T	0.62925	0.2468	L	0.39020	1.185	0.80722	D	1	B;P	0.40731	0.002;0.728	B;B	0.37239	0.016;0.244	T	0.67669	-0.5611	10	0.45353	T	0.12	-10.0445	19.6547	0.95831	0.0:0.0:1.0:0.0	.	107;39	Q6UVY6;Q6UVY6-2	MOXD1_HUMAN;.	Y	107;39	ENSP00000356940:H107Y;ENSP00000336998:H39Y	ENSP00000336998:H39Y	H	-	1	0	MOXD1	132737555	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	5.646000	0.67916	2.661000	0.90470	0.655000	0.94253	CAT		0.338	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529		9	67	0	0	0	0.006214	0	9	67				
GPNMB	10457	broad.mit.edu	37	7	23293804	23293804	+	Silent	SNP	G	G	A	rs149206943		TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr7:23293804G>A	ENST00000381990.2	+	3	401	c.240G>A	c.(238-240)gcG>gcA	p.A80A	GPNMB_ENST00000409458.3_Silent_p.A80A|GPNMB_ENST00000539136.1_Intron|GPNMB_ENST00000258733.4_Silent_p.A80A|GPNMB_ENST00000453162.2_Silent_p.A80A	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	80					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			GTGTGCAGGCGGTCCTGACCA	0.453																																							uc003swc.2		NA																	0				ovary(3)|breast(2)	5						c.(238-240)GCG>GCA		glycoprotein (transmembrane) nmb isoform a		G	,	0,4406		0,0,2203	112.0	116.0	115.0		240,240	-12.3	0.0	7	dbSNP_134	115	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	GPNMB	NM_001005340.1,NM_002510.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	80/573,80/561	23293804	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10457				negative regulation of cell proliferation	melanosome		g.chr7:23293804G>A	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.240G>A	7.37:g.23293804G>A						GPNMB_uc003swa.2_Silent_p.A80A|GPNMB_uc003swb.2_Silent_p.A80A|GPNMB_uc011jyy.1_Silent_p.A80A|GPNMB_uc011jyz.1_Intron	p.A80A	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		3	401	+			80			Extracellular (Potential).		A4D155|Q6UVX1|Q8N1A1	Silent	SNP	ENST00000381990.2	37	c.240G>A	CCDS34610.1																																																																																				0.453	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		15	106	0	0	0	0.004007	0	15	106				
NPSR1	387129	broad.mit.edu	37	7	34851388	34851388	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr7:34851388C>A	ENST00000360581.1	+	4	519	c.391C>A	c.(391-393)Ctg>Atg	p.L131M	NPSR1_ENST00000359791.1_Missense_Mutation_p.L131M|NPSR1_ENST00000381539.3_Missense_Mutation_p.L131M|NPSR1_ENST00000381542.1_Intron|NPSR1_ENST00000531252.1_Missense_Mutation_p.L120M	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	131						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TTAGGTTGTGCTGCTCTACGC	0.468																																							uc003teg.1		NA																	0				skin(3)|pancreas(1)	4						c.(391-393)CTG>ATG		G protein-coupled receptor for asthma	Halothane(DB01159)						242.0	180.0	201.0					7																	34851388		2203	4300	6503	SO:0001583	missense	387129					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	g.chr7:34851388C>A	AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"""GPCR / Class A : Neuropeptide receptors : S"""	23631	protein-coding gene	gene with protein product		608595	"""G protein-coupled receptor 154"""	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.391C>A	7.37:g.34851388C>A	ENSP00000353788:p.Leu131Met					AAA1_uc010kwq.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Missense_Mutation_p.L131M|NPSR1_uc010kwt.1_Translation_Start_Site|NPSR1_uc010kwu.1_Intron|NPSR1_uc010kwv.1_Intron|NPSR1_uc003tei.1_Missense_Mutation_p.L131M|NPSR1_uc010kww.1_Missense_Mutation_p.L120M|NPSR1_uc011kar.1_Intron|AAA1_uc010kwy.2_Intron|AAA1_uc003tek.3_Intron	p.L131M	NM_207172	NP_997055	Q6W5P4	NPSR1_HUMAN			4	519	+			131			Helical; Name=3; (Potential).		A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Missense_Mutation	SNP	ENST00000360581.1	37	c.391C>A	CCDS5444.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.223767	0.79576	.	.	ENSG00000187258	ENST00000360581;ENST00000359791;ENST00000531252;ENST00000381539;ENST00000334481	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000066	T	0.52256	0.1723	L	0.38953	1.18	0.49130	D	0.999751	D;P;D;P	0.67145	0.992;0.913;0.996;0.589	P;P;P;P	0.59546	0.859;0.757;0.859;0.766	T	0.53180	-0.8475	10	0.59425	D	0.04	-11.1719	17.6227	0.88086	0.0:1.0:0.0:0.0	.	120;131;131;131	Q6W5P4-5;Q6W5P4-4;Q6W5P4-3;Q6W5P4	.;.;.;NPSR1_HUMAN	M	131;131;120;131;3	ENSP00000353788:L131M;ENSP00000352839:L131M;ENSP00000433258:L120M;ENSP00000370950:L131M	ENSP00000334093:L3M	L	+	1	2	NPSR1	34817913	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.158000	0.50723	2.494000	0.84150	0.650000	0.86243	CTG		0.468	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173		12	81	1	0	7.03913e-09	0.001368	1.09444e-08	12	81				
WBSCR28	135886	broad.mit.edu	37	7	73279468	73279468	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr7:73279468T>A	ENST00000320531.2	+	2	254	c.218T>A	c.(217-219)cTg>cAg	p.L73Q		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	73						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				GCCTGCCCCCTGGGCCAGGCT	0.672																																							uc003tzk.2		NA																	0				breast(1)	1						c.(217-219)CTG>CAG		hypothetical protein LOC135886							60.0	67.0	65.0					7																	73279468		1854	4089	5943	SO:0001583	missense	135886					integral to membrane		g.chr7:73279468T>A	BC030643	CCDS43597.1	7q11.23	2006-07-04			ENSG00000175877	ENSG00000175877			23018	protein-coding gene	gene with protein product		612547				8812460	Standard	NM_182504		Approved	MGC26719	uc003tzk.2	Q6UE05	OTTHUMG00000157243	ENST00000320531.2:c.218T>A	7.37:g.73279468T>A	ENSP00000316775:p.Leu73Gln					RFC2_uc011kfa.1_Intron|WBSCR28_uc003tzl.2_5'UTR	p.L73Q	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN			2	254	+		Lung NSC(55;0.159)	73			Helical; (Potential).		Q6UE04|Q8NHP4	Missense_Mutation	SNP	ENST00000320531.2	37	c.218T>A	CCDS43597.1	.	.	.	.	.	.	.	.	.	.	T	16.23	3.064521	0.55432	.	.	ENSG00000175877	ENST00000320531	T	0.24723	1.84	4.43	4.43	0.53597	.	0.734744	0.11174	N	0.591706	T	0.35393	0.0930	L	0.29908	0.895	0.18873	N	0.999985	D	0.61697	0.99	P	0.62382	0.901	T	0.14755	-1.0461	10	0.87932	D	0	-2.4598	10.0467	0.42190	0.0:0.0:0.0:1.0	.	73	Q6UE05	WBS28_HUMAN	Q	73	ENSP00000316775:L73Q	ENSP00000316775:L73Q	L	+	2	0	WBSCR28	72917404	0.040000	0.19996	0.054000	0.19295	0.106000	0.19336	0.523000	0.22925	1.892000	0.54788	0.454000	0.30748	CTG		0.672	WBSCR28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348130.1	NM_182504		8	123	0	0	0	0.00308	0	8	123				
ABCB1	5243	broad.mit.edu	37	7	87190601	87190601	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr7:87190601C>T	ENST00000265724.3	-	9	1222	c.805G>A	c.(805-807)Gga>Aga	p.G269R	ABCB1_ENST00000543898.1_Missense_Mutation_p.G205R	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	269	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TTCTTTTGTCCTCCAAATGCA	0.353																																							uc003uiz.1		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(805-807)GGA>AGA		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						79.0	79.0	79.0					7																	87190601		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87190601C>T	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.805G>A	7.37:g.87190601C>T	ENSP00000265724:p.Gly269Arg					ABCB1_uc011khc.1_Missense_Mutation_p.G205R	p.G269R	NM_000927	NP_000918	P08183	MDR1_HUMAN			9	1223	-	Esophageal squamous(14;0.00164)		269			ABC transmembrane type-1 1.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.805G>A	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	33	5.263928	0.95399	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.89485	-2.52;-2.52	5.74	5.74	0.90152	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.94735	0.8301	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	0.982;1.0	B;D	0.78314	0.446;0.991	D	0.94746	0.7923	10	0.87932	D	0	-21.6274	19.9145	0.97053	0.0:1.0:0.0:0.0	.	205;269	B5AK60;P08183	.;MDR1_HUMAN	R	50;269;205	ENSP00000265724:G269R;ENSP00000444095:G205R	ENSP00000265724:G269R	G	-	1	0	ABCB1	87028537	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.294000	0.78760	2.709000	0.92574	0.655000	0.94253	GGA		0.353	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		6	26	0	0	0	0.001168	0	6	26				
ZNF804B	219578	broad.mit.edu	37	7	88964765	88964765	+	Silent	SNP	G	G	A	rs148990105	byFrequency	TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr7:88964765G>A	ENST00000333190.4	+	4	3078	c.2469G>A	c.(2467-2469)acG>acA	p.T823T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	823							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TAAAATCTACGAGAATCATCT	0.363										HNSCC(36;0.09)			g|||	3	0.000599042	0.0023	0.0	5008	,	,		19975	0.0		0.0	False		,,,				2504	0.0						uc011khi.1		NA																	0				ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(2467-2469)ACG>ACA		zinc finger protein 804B		A		6,4392		0,6,2193	47.0	48.0	48.0		2469	-10.4	0.0	7	dbSNP_134	48	0,8576		0,0,4288	no	coding-synonymous	ZNF804B	NM_181646.2		0,6,6481	AA,AG,GG		0.0,0.1364,0.0462		823/1350	88964765	6,12968	2199	4288	6487	SO:0001819	synonymous_variant	219578					intracellular	zinc ion binding	g.chr7:88964765G>A	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2469G>A	7.37:g.88964765G>A		HNSCC(36;0.09)					p.T823T	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	3007	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		823					B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	37	c.2469G>A	CCDS5613.1																																																																																				0.363	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		4	57	0	0	0	0.000602	0	4	57				
ZNF655	79027	broad.mit.edu	37	7	99170705	99170705	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr7:99170705A>G	ENST00000394163.2	+	3	1157	c.974A>G	c.(973-975)cAc>cGc	p.H325R	ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000493277.1_Missense_Mutation_p.H360R|GS1-259H13.10_ENST00000455905.1_Intron|ZNF655_ENST00000252713.4_Missense_Mutation_p.H325R|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000424881.1_Missense_Mutation_p.H360R|GS1-259H13.10_ENST00000486324.1_Intron	NM_001009960.1|NM_138494.2	NP_001009960.1|NP_612503.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	325					negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					CAGAAAATTCACAAAGAGATG	0.413																																							uc003urh.2		NA																	0				ovary(1)	1						c.(973-975)CAC>CGC		zinc finger protein 655 isoform a							91.0	84.0	86.0					7																	99170705		2203	4300	6503	SO:0001583	missense	79027				G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	g.chr7:99170705A>G	AY099353	CCDS5669.1, CCDS5670.1, CCDS34695.1, CCDS47655.1	7q22.1	2013-01-08			ENSG00000197343	ENSG00000197343		"""Zinc fingers, C2H2-type"", ""-"""	30899	protein-coding gene	gene with protein product						11179890, 15558030	Standard	NM_001083956		Approved	VIK-1, VIK	uc010lgc.3	Q8N720	OTTHUMG00000156637	ENST00000394163.2:c.974A>G	7.37:g.99170705A>G	ENSP00000377718:p.His325Arg					ZNF655_uc010lga.2_Missense_Mutation_p.H360R|ZNF655_uc010lgc.2_Missense_Mutation_p.H360R|ZNF655_uc003urj.2_Missense_Mutation_p.H325R|ZNF655_uc003urk.2_Missense_Mutation_p.H162R|ZNF655_uc010lgd.2_Missense_Mutation_p.H162R	p.H325R	NM_138494	NP_612503	Q8N720	ZN655_HUMAN			3	1367	+	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)		325			C2H2-type 3.		A4D291|A6NGD3|B4E3M4|B7Z9Q9|D6W5T4|Q8IV00|Q8TA89|Q96EZ3|Q9BQ85	Missense_Mutation	SNP	ENST00000394163.2	37	c.974A>G	CCDS5669.1	.	.	.	.	.	.	.	.	.	.	A	17.38	3.374135	0.61735	.	.	ENSG00000197343	ENST00000252713;ENST00000493277;ENST00000424881;ENST00000394163	D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55	5.07	5.07	0.68467	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44688	D	0.000437	D	0.93517	0.7931	H	0.96048	3.76	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.982;0.99	D	0.95158	0.8279	10	0.87932	D	0	-13.0932	13.4332	0.61068	1.0:0.0:0.0:0.0	.	360;325	Q8N720-3;Q8N720	.;ZN655_HUMAN	R	325;360;360;325	ENSP00000252713:H325R;ENSP00000419135:H360R;ENSP00000393876:H360R;ENSP00000377718:H325R	ENSP00000252713:H325R	H	+	2	0	ZNF655	99008641	1.000000	0.71417	0.987000	0.45799	0.864000	0.49448	9.049000	0.93837	2.206000	0.71126	0.528000	0.53228	CAC		0.413	ZNF655-009	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000344929.1	NM_138494		21	101	0	0	0	0.002299	0	21	101				
PTPRZ1	5803	broad.mit.edu	37	7	121701174	121701174	+	Missense_Mutation	SNP	T	T	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr7:121701174T>A	ENST00000393386.2	+	30	7259	c.6848T>A	c.(6847-6849)gTg>gAg	p.V2283E	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.V1416E	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2283					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						CTCAGCCTTGTGAGCACAAGG	0.428																																							uc003vjy.2		NA																	0				ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(6847-6849)GTG>GAG		protein tyrosine phosphatase, receptor-type,							84.0	80.0	81.0					7																	121701174		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.chr7:121701174T>A	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.6848T>A	7.37:g.121701174T>A	ENSP00000377047:p.Val2283Glu					PTPRZ1_uc003vjz.2_Missense_Mutation_p.V1416E|PTPRZ1_uc011knt.1_Missense_Mutation_p.V873E	p.V2283E	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			30	7243	+			2283			Cytoplasmic (Potential).		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.6848T>A	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.415463	0.83449	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.52295	0.67;0.78	5.86	5.86	0.93980	Protein-tyrosine phosphatase, receptor/non-receptor type (1);	0.000000	0.64402	D	0.000013	T	0.67748	0.2926	M	0.65498	2.005	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.994;1.0	D;P;D	0.81914	0.988;0.885;0.995	T	0.70865	-0.4756	10	0.87932	D	0	.	16.2555	0.82515	0.0:0.0:0.0:1.0	.	1422;1416;2283	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	E	2283;1416	ENSP00000377047:V2283E;ENSP00000410000:V1416E	ENSP00000377047:V2283E	V	+	2	0	PTPRZ1	121488410	1.000000	0.71417	0.995000	0.50966	0.956000	0.61745	7.698000	0.84413	2.242000	0.73789	0.460000	0.39030	GTG		0.428	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		13	42	0	0	0	0.001855	0	13	42				
SSMEM1	136263	broad.mit.edu	37	7	129847876	129847876	+	Silent	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr7:129847876G>T	ENST00000297819.3	+	1	177	c.126G>T	c.(124-126)ctG>ctT	p.L42L	TMEM209_ENST00000397622.2_5'Flank|TMEM209_ENST00000473456.1_5'Flank|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000336804.8_5'Flank|TMEM209_ENST00000462753.1_5'Flank	NM_145268.3	NP_660311.1	Q8WWF3	SSMM1_HUMAN	serine-rich single-pass membrane protein 1	42						integral component of membrane (GO:0016021)											GGAGCTTCCTGCTTTGGTATT	0.398																																							uc003vpp.2		NA																	0					0						c.(124-126)CTG>CTT		hypothetical protein LOC136263							244.0	238.0	240.0					7																	129847876		2203	4300	6503	SO:0001819	synonymous_variant	136263					integral to membrane		g.chr7:129847876G>T	AK097635	CCDS5816.1	7q32.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000165120	ENSG00000165120			29580	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 45"""	C7orf45		12477932	Standard	NM_145268		Approved	FLJ40316	uc003vpp.3	Q8WWF3	OTTHUMG00000157844	ENST00000297819.3:c.126G>T	7.37:g.129847876G>T						TMEM209_uc003vpn.2_5'Flank|TMEM209_uc010lmc.1_5'Flank|TMEM209_uc003vpo.2_5'Flank	p.L42L	NM_145268	NP_660311	Q8WWF3	CG045_HUMAN			1	173	+	Melanoma(18;0.0435)		42			Helical; (Potential).			Silent	SNP	ENST00000297819.3	37	c.126G>T	CCDS5816.1																																																																																				0.398	SSMEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349768.1	NM_145268		21	103	1	0	1.36565e-18	0.00278	2.52034e-18	21	103				
SVOPL	136306	broad.mit.edu	37	7	138312982	138312982	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr7:138312982G>C	ENST00000419765.3	-	10	1023	c.990C>G	c.(988-990)agC>agG	p.S330R	SVOPL_ENST00000436657.1_Missense_Mutation_p.S178R|SVOPL_ENST00000288513.5_Missense_Mutation_p.S178R|SVOPL_ENST00000421622.1_Missense_Mutation_p.S210R|SVOPL_ENST00000463557.1_5'Flank	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	330						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						AGGGGCTCTGGCTCTCCCCTG	0.572																																							uc011kqh.1		NA																	0					0						c.(988-990)AGC>AGG		SVOP-like isoform 1							122.0	108.0	112.0					7																	138312982		2203	4300	6503	SO:0001583	missense	136306					integral to membrane	transmembrane transporter activity	g.chr7:138312982G>C	BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"""SV2 related protein homolog (rat)-like"""				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.990C>G	7.37:g.138312982G>C	ENSP00000405482:p.Ser330Arg					SVOPL_uc003vue.2_Missense_Mutation_p.S178R	p.S330R	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN			10	990	-			330						Missense_Mutation	SNP	ENST00000419765.3	37	c.990C>G	CCDS47721.1	.	.	.	.	.	.	.	.	.	.	G	9.124	1.009675	0.19277	.	.	ENSG00000157703	ENST00000288513;ENST00000421622;ENST00000436657;ENST00000419765	T;T;T;T	0.74315	-0.1;-0.01;-0.1;-0.83	4.6	-0.456	0.12190	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.478263	0.25127	N	0.032923	T	0.55847	0.1946	L	0.29908	0.895	0.20563	N	0.999886	B;B	0.29766	0.09;0.256	B;B	0.29176	0.039;0.099	T	0.41342	-0.9514	10	0.21540	T	0.41	-18.1988	8.6065	0.33775	0.3914:0.0:0.6086:0.0	.	330;178	Q8N434;Q8N434-2	SVOPL_HUMAN;.	R	178;210;178;330	ENSP00000288513:S178R;ENSP00000412830:S210R;ENSP00000417018:S178R;ENSP00000405482:S330R	ENSP00000288513:S178R	S	-	3	2	SVOPL	137963522	0.653000	0.27358	0.099000	0.21106	0.629000	0.37895	0.483000	0.22292	-0.312000	0.08741	-0.253000	0.11424	AGC		0.572	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4	NM_174959		6	36	0	0	0	0.001168	0	6	36				
CSMD1	64478	broad.mit.edu	37	8	2967820	2967820	+	Silent	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr8:2967820G>T	ENST00000520002.1	-	44	7026	c.6471C>A	c.(6469-6471)acC>acA	p.T2157T	CSMD1_ENST00000537824.1_Silent_p.T2156T|CSMD1_ENST00000602557.1_Silent_p.T2157T|CSMD1_ENST00000602723.1_Silent_p.T2157T|CSMD1_ENST00000400186.3_Silent_p.T2157T|CSMD1_ENST00000542608.1_Silent_p.T2156T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2157	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGGAGTAGATGGTGCCGTTCT	0.488																																							uc011kwk.1		NA																	0				breast(20)|large_intestine(5)	25						c.(6469-6471)ACC>ACA		CUB and Sushi multiple domains 1 precursor							86.0	85.0	85.0					8																	2967820		1924	4136	6060	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:2967820G>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6471C>A	8.37:g.2967820G>T						CSMD1_uc011kwj.1_Silent_p.T1549T|CSMD1_uc010lrg.2_Silent_p.T225T	p.T2157T	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	43	6861	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2157			Extracellular (Potential).|CUB 13.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.6471C>A		.	.	.	.	.	.	.	.	.	.	G	3.204	-0.163034	0.06502	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.2	0.656	0.17844	.	.	.	.	.	T	0.40522	0.1120	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24977	-1.0145	4	.	.	.	.	0.7831	0.01044	0.2655:0.1079:0.3424:0.2842	.	.	.	.	N	1637	.	.	H	-	1	0	CSMD1	2955227	0.998000	0.40836	0.899000	0.35326	0.244000	0.25665	0.407000	0.21049	0.297000	0.22615	0.453000	0.30009	CAT		0.488	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		5	9	1	0	3.59834e-05	0.001168	4.64104e-05	5	9				
SDC2	6383	broad.mit.edu	37	8	97605786	97605786	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr8:97605786G>T	ENST00000302190.4	+	2	1060	c.139G>T	c.(139-141)Gat>Tat	p.D47Y	SDC2_ENST00000518385.1_Intron|SDC2_ENST00000519914.1_Missense_Mutation_p.D18Y|SDC2_ENST00000522911.1_Missense_Mutation_p.D18Y	NM_002998.3	NP_002989.2	P34741	SDC2_HUMAN	syndecan 2	47					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dendrite morphogenesis (GO:0048813)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|regulation of dendrite morphogenesis (GO:0048814)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)			breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2)	16	Breast(36;3.41e-05)				Sargramostim(DB00020)	GTATCCTATTGATGACGATGA	0.478																																							uc003yhv.1		NA																	0				ovary(2)	2						c.(139-141)GAT>TAT		syndecan 2 precursor	Sargramostim(DB00020)						150.0	115.0	127.0					8																	97605786		2203	4300	6503	SO:0001583	missense	6383					integral to plasma membrane	cytoskeletal protein binding|PDZ domain binding	g.chr8:97605786G>T	BC030133	CCDS6272.1	8q22-q23	2011-08-11	2007-02-15		ENSG00000169439	ENSG00000169439		"""Proteoglycans / Cell Surface : Syndecans"", ""CD molecules"""	10659	protein-coding gene	gene with protein product	"""syndecan proteoglycan 2"""	142460	"""heparan sulfate proteoglycan 1, cell surface-associated"""	HSPG, HSPG1		8187643	Standard	NM_002998		Approved	fibroglycan, SYND2, CD362	uc003yhv.1	P34741	OTTHUMG00000164689	ENST00000302190.4:c.139G>T	8.37:g.97605786G>T	ENSP00000307046:p.Asp47Tyr					SDC2_uc011lgu.1_Missense_Mutation_p.D18Y	p.D47Y	NM_002998	NP_002989	P34741	SDC2_HUMAN			2	757	+	Breast(36;3.41e-05)		47			Extracellular (Potential).		B3KQA3|Q6PIS6|Q9H6V1	Missense_Mutation	SNP	ENST00000302190.4	37	c.139G>T	CCDS6272.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.732611	0.69189	.	.	ENSG00000169439	ENST00000302190;ENST00000545117;ENST00000546193;ENST00000522911;ENST00000519914;ENST00000521590;ENST00000523877	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.72581	0.3478	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73978	-0.3812	10	0.87932	D	0	-23.6717	17.2187	0.86951	0.0:0.0:1.0:0.0	.	47	P34741	SDC2_HUMAN	Y	47;47;37;18;18;18;18	ENSP00000307046:D47Y;ENSP00000427784:D18Y;ENSP00000428256:D18Y;ENSP00000429121:D18Y	ENSP00000307046:D47Y	D	+	1	0	SDC2	97674962	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	5.541000	0.67212	2.878000	0.98634	0.650000	0.86243	GAT		0.478	SDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379750.1	NM_002998		12	65	1	0	1.5842e-08	0.001855	2.42982e-08	12	65				
KCNS2	3788	broad.mit.edu	37	8	99441377	99441377	+	Silent	SNP	T	T	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr8:99441377T>A	ENST00000287042.4	+	2	1520	c.1170T>A	c.(1168-1170)acT>acA	p.T390T	KCNS2_ENST00000521839.1_Silent_p.T390T	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	390					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GAAAGCTGACTGCCTCTGCCT	0.592																																					Pancreas(138;844 2489 9202 24627)	Pancreas(138;844 2489 9202 24627)	uc003yin.2		NA																	0				ovary(1)	1						c.(1168-1170)ACT>ACA		potassium voltage-gated channel,							105.0	97.0	100.0					8																	99441377		2203	4300	6503	SO:0001819	synonymous_variant	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99441377T>A	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.1170T>A	8.37:g.99441377T>A							p.T390T	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	1520	+	Breast(36;2.4e-06)		390			Helical; Name=Segment S6; (Potential).		A8KAN1	Silent	SNP	ENST00000287042.4	37	c.1170T>A	CCDS6279.1																																																																																				0.592	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		14	97	0	0	0	0.001855	0	14	97				
RIMS2	9699	broad.mit.edu	37	8	105026764	105026764	+	Silent	SNP	A	A	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr8:105026764A>T	ENST00000436393.2	+	17	2716	c.2475A>T	c.(2473-2475)acA>acT	p.T825T	RIMS2_ENST00000406091.3_Silent_p.T1085T|RIMS2_ENST00000262231.10_Silent_p.T924T|RIMS2_ENST00000507740.1_Silent_p.T899T			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1147	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CTGTCCAGACAAGCCCATCAA	0.413										HNSCC(12;0.0054)																													uc003yls.2		NA																	0		p.H825L(1)		ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(2473-2475)ACA>ACT		regulating synaptic membrane exocytosis 2							77.0	78.0	78.0					8																	105026764		1915	4115	6030	SO:0001819	synonymous_variant	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105026764A>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2475A>T	8.37:g.105026764A>T		HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Silent_p.T1085T|RIMS2_uc003ylw.2_Silent_p.T899T|RIMS2_uc003ylq.2_Silent_p.T899T|RIMS2_uc003ylr.2_Silent_p.T924T	p.T825T	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		17	2716	+			1147					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	ENST00000436393.2	37	c.2475A>T																																																																																					0.413	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		6	47	0	0	0	0.001984	0	6	47				
CSMD3	114788	broad.mit.edu	37	8	113301663	113301663	+	Missense_Mutation	SNP	G	G	T	rs566702049	byFrequency	TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr8:113301663G>T	ENST00000297405.5	-	57	9323	c.9079C>A	c.(9079-9081)Ctt>Att	p.L3027I	CSMD3_ENST00000455883.2_Missense_Mutation_p.L2858I|CSMD3_ENST00000352409.3_Missense_Mutation_p.L2957I|CSMD3_ENST00000343508.3_Missense_Mutation_p.L2987I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3027	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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						TGGCCTAAAAGGGAACGCTTT	0.468										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.(9079-9081)CTT>ATT		CUB and Sushi multiple domains 3 isoform 1							123.0	111.0	115.0					8																	113301663		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113301663G>T	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.9079C>A	8.37:g.113301663G>T	ENSP00000297405:p.Leu3027Ile	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.L2229I|CSMD3_uc003ynt.2_Missense_Mutation_p.L2987I|CSMD3_uc011lhx.1_Missense_Mutation_p.L2858I	p.L3027I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			57	9238	-			3027			Sushi 21.|Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.9079C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655687	0.88056	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44	6.17	5.3	0.74995	Complement control module (2);Sushi/SCR/CCP (3);	0.088933	0.46758	D	0.000264	D	0.82444	0.5038	M	0.80746	2.51	0.47341	D	0.999397	D;D;B	0.76494	0.997;0.999;0.178	D;D;B	0.91635	0.992;0.999;0.155	D	0.84317	0.0514	10	0.52906	T	0.07	.	15.8705	0.79117	0.0646:0.0:0.9354:0.0	.	2858;3027;2987	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	I	2987;3027;2297;2858;2957	ENSP00000345799:L2987I;ENSP00000297405:L3027I;ENSP00000341558:L2297I;ENSP00000412263:L2858I;ENSP00000343124:L2957I	ENSP00000297405:L3027I	L	-	1	0	CSMD3	113370839	1.000000	0.71417	0.783000	0.31826	0.975000	0.68041	7.951000	0.87819	1.631000	0.50456	0.655000	0.94253	CTT		0.468	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		25	76	1	0	1.85244e-09	0.00333	2.9823e-09	25	76				
KCNK9	51305	broad.mit.edu	37	8	140630797	140630797	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr8:140630797C>T	ENST00000520439.1	-	2	892	c.829G>A	c.(829-831)Gag>Aag	p.E277K	KCNK9_ENST00000523477.1_5'Flank|KCNK9_ENST00000303015.1_Missense_Mutation_p.E277K	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	277					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	CGCGGCTCCTCAGGGATGTGA	0.642																																							uc003yvf.1		NA																	0				ovary(2)|lung(1)	3						c.(829-831)GAG>AAG		potassium channel, subfamily K, member 9							46.0	51.0	50.0					8																	140630797		2203	4300	6503	SO:0001583	missense	51305					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	g.chr8:140630797C>T	AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.829G>A	8.37:g.140630797C>T	ENSP00000430676:p.Glu277Lys					KCNK9_uc003yvg.1_Missense_Mutation_p.E277K|KCNK9_uc003yve.1_RNA	p.E277K	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0855)		2	893	-	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	277			Cytoplasmic (Potential).		Q2M290|Q540F2	Missense_Mutation	SNP	ENST00000520439.1	37	c.829G>A	CCDS6377.1	.	.	.	.	.	.	.	.	.	.	C	3.882	-0.025680	0.07589	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.15718	2.4;2.4;2.4	5.76	2.93	0.34026	.	0.937588	0.09031	N	0.858682	T	0.17066	0.0410	L	0.56769	1.78	0.29890	N	0.825315	B	0.21905	0.062	B	0.17979	0.02	T	0.40534	-0.9558	10	0.09084	T	0.74	.	10.2775	0.43519	0.0:0.6733:0.2563:0.0704	.	277	Q9NPC2	KCNK9_HUMAN	K	277	ENSP00000429847:E277K;ENSP00000302166:E277K;ENSP00000430676:E277K	ENSP00000302166:E277K	E	-	1	0	KCNK9	140699979	0.974000	0.33945	0.080000	0.20451	0.002000	0.02628	2.461000	0.45040	0.322000	0.23283	-0.218000	0.12543	GAG		0.642	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601		4	51	0	0	0	0.009096	0	4	51				
RANBP6	26953	broad.mit.edu	37	9	6012550	6012550	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr9:6012550T>C	ENST00000259569.5	-	1	3068	c.3058A>G	c.(3058-3060)Act>Gct	p.T1020A	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	1020					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		AAACTCAAAGTCTGAATAGCT	0.363																																							uc003zjr.2		NA																	0				ovary(3)	3						c.(3058-3060)ACT>GCT		RAN binding protein 6							81.0	80.0	80.0					9																	6012550		2203	4300	6503	SO:0001583	missense	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6012550T>C	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.3058A>G	9.37:g.6012550T>C	ENSP00000259569:p.Thr1020Ala					RANBP6_uc011lmf.1_Missense_Mutation_p.T668A|RANBP6_uc003zjs.2_Missense_Mutation_p.T608A	p.T1020A	NM_012416	NP_036548	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	3069	-		Acute lymphoblastic leukemia(23;0.158)	1020					Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	c.3058A>G	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	T	12.44	1.937464	0.34189	.	.	ENSG00000137040	ENST00000259569	T	0.08984	3.03	4.79	2.39	0.29439	Armadillo-like helical (1);Armadillo-type fold (1);	0.051667	0.85682	D	0.000000	T	0.06645	0.0170	L	0.36672	1.1	0.54753	D	0.999988	P;P;P	0.37061	0.58;0.58;0.58	B;B;B	0.37144	0.242;0.242;0.242	T	0.41770	-0.9490	10	0.33940	T	0.23	-9.6699	6.9687	0.24637	0.1476:0.0:0.1543:0.6981	.	187;608;1020	B4E340;B4DTX6;O60518	.;.;RNBP6_HUMAN	A	1020	ENSP00000259569:T1020A	ENSP00000259569:T1020A	T	-	1	0	RANBP6	6002550	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.798000	0.62510	0.530000	0.28619	0.533000	0.62120	ACT		0.363	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		9	51	0	0	0	0.004482	0	9	51				
IFNA6	3443	broad.mit.edu	37	9	21350855	21350855	+	Missense_Mutation	SNP	A	A	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr9:21350855A>G	ENST00000380210.1	-	1	522	c.32T>C	c.(31-33)cTg>cCg	p.L11P		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	11					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GAGCACCACCAGGGCCATCAG	0.522																																							uc011lni.1		NA																	0					0						c.(31-33)CTG>CCG		interferon, alpha 6 precursor							94.0	92.0	93.0					9																	21350855		2203	4300	6503	SO:0001583	missense	3443				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21350855A>G		CCDS6504.1	9p22	2010-12-10			ENSG00000120235	ENSG00000120235		"""Interferons"""	5427	protein-coding gene	gene with protein product		147566				1385305	Standard	NM_021002		Approved	IFN-alphaK	uc011lni.2	P05013	OTTHUMG00000019676	ENST00000380210.1:c.32T>C	9.37:g.21350855A>G	ENSP00000369558:p.Leu11Pro						p.L11P	NM_021002	NP_066282	P05013	IFNA6_HUMAN		Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)	1	32	-			11					Q5VYQ1	Missense_Mutation	SNP	ENST00000380210.1	37	c.32T>C	CCDS6504.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.182121	0.38511	.	.	ENSG00000120235	ENST00000380210	T	0.05199	3.48	3.78	3.78	0.43462	.	0.716758	0.12226	N	0.487935	T	0.16342	0.0393	M	0.92317	3.295	0.49483	D	0.999793	B	0.30326	0.276	B	0.30782	0.12	T	0.02132	-1.1208	10	0.87932	D	0	.	10.3094	0.43699	1.0:0.0:0.0:0.0	.	11	P05013	IFNA6_HUMAN	P	11	ENSP00000369558:L11P	ENSP00000369558:L11P	L	-	2	0	IFNA6	21340855	0.142000	0.22610	0.233000	0.24025	0.113000	0.19764	4.654000	0.61469	1.458000	0.47871	0.482000	0.46254	CTG		0.522	IFNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051905.1	NM_021002		12	84	0	0	0	0.001855	0	12	84				
SPATA31A6	389730	broad.mit.edu	37	9	43627630	43627630	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr9:43627630G>T	ENST00000332857.6	-	4	1085	c.1057C>A	c.(1057-1059)Caa>Aaa	p.Q353K	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	353					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GGGGTCATTTGATTTGTAAAT	0.433																																							uc011lrb.1		NA																	0					0						c.(1057-1059)CAA>AAA		hypothetical protein LOC389730							1.0	1.0	1.0					9																	43627630		213	598	811	SO:0001583	missense	389730					integral to membrane		g.chr9:43627630G>T		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1057C>A	9.37:g.43627630G>T	ENSP00000329825:p.Gln353Lys						p.Q353K	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			4	1086	-			353						Missense_Mutation	SNP	ENST00000332857.6	37	c.1057C>A	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.485414	0.26686	.	.	ENSG00000185775	ENST00000332857	T	0.03951	3.75	2.23	1.24	0.21308	.	0.425686	0.20236	N	0.096391	T	0.08133	0.0203	L	0.54323	1.7	0.09310	N	1	D	0.53151	0.958	P	0.52217	0.693	T	0.21245	-1.0251	10	0.32370	T	0.25	-1.9389	6.4169	0.21721	0.0:0.3344:0.6656:0.0	.	353	Q5VVP1	F75A6_HUMAN	K	353	ENSP00000329825:Q353K	ENSP00000329825:Q353K	Q	-	1	0	FAM75A6	43567626	0.006000	0.16342	0.024000	0.17045	0.002000	0.02628	0.534000	0.23098	0.448000	0.26722	0.449000	0.29647	CAA		0.433	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		81	220	1	0	8.6838e-40	0.00361	1.62911e-39	81	220				
GDA	9615	broad.mit.edu	37	9	74860078	74860078	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr9:74860078G>A	ENST00000358399.3	+	12	1243	c.1150G>A	c.(1150-1152)Ggt>Agt	p.G384S	GDA_ENST00000376986.1_Missense_Mutation_p.G306S|GDA_ENST00000545168.1_Missense_Mutation_p.G310S|GDA_ENST00000376989.3_Missense_Mutation_p.G323S|GDA_ENST00000238018.4_Missense_Mutation_p.G384S	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	384					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		GGGGCTGGATGGTGAGATTGG	0.448																																							uc004aiq.2		NA																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(1150-1152)GGT>AGT		guanine deaminase							194.0	191.0	192.0					9																	74860078		2203	4300	6503	SO:0001583	missense	9615				nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	g.chr9:74860078G>A	AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.1150G>A	9.37:g.74860078G>A	ENSP00000351170:p.Gly384Ser					GDA_uc011lse.1_Missense_Mutation_p.G310S|GDA_uc011lsf.1_Missense_Mutation_p.G310S|GDA_uc004air.2_Missense_Mutation_p.G384S|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Missense_Mutation_p.G306S	p.G384S	NM_004293	NP_004284	Q9Y2T3	GUAD_HUMAN		Lung(182;0.0583)	12	1333	+		Myeloproliferative disorder(762;0.0122)	384					B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	ENST00000358399.3	37	c.1150G>A	CCDS6641.1	.	.	.	.	.	.	.	.	.	.	G	2.469	-0.322441	0.05350	.	.	ENSG00000119125	ENST00000545168;ENST00000238018;ENST00000376989;ENST00000376986;ENST00000358399;ENST00000436438	D;D;D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59;-2.59;-2.59	5.21	-0.355	0.12587	Amidohydrolase 1 (1);	0.811143	0.11760	N	0.532159	T	0.78329	0.4266	N	0.21448	0.665	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.004;0.001;0.001	T	0.65129	-0.6243	10	0.49607	T	0.09	-0.1593	5.5938	0.17315	0.623:0.1363:0.2407:0.0	.	306;384;384	Q5SZC6;Q9Y2T3-3;Q9Y2T3	.;.;GUAD_HUMAN	S	310;384;323;306;384;92	ENSP00000437972:G310S;ENSP00000238018:G384S;ENSP00000366188:G323S;ENSP00000366185:G306S;ENSP00000351170:G384S;ENSP00000400857:G92S	ENSP00000238018:G384S	G	+	1	0	GDA	74049898	0.176000	0.23096	0.016000	0.15963	0.111000	0.19643	0.430000	0.21428	0.041000	0.15688	-0.438000	0.05819	GGT		0.448	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1			24	89	0	0	0	0.004656	0	24	89				
VPS13A	23230	broad.mit.edu	37	9	79984229	79984229	+	Missense_Mutation	SNP	G	G	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr9:79984229G>T	ENST00000360280.3	+	63	8828	c.8568G>T	c.(8566-8568)atG>atT	p.M2856I	VPS13A_ENST00000376634.4_Missense_Mutation_p.M2856I|VPS13A_ENST00000357409.5_Missense_Mutation_p.M2856I|VPS13A_ENST00000376636.3_Missense_Mutation_p.M2817I	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2856					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTAAGCAGATGTATGTACTCA	0.299																																							uc004akr.2		NA																	0				pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						c.(8566-8568)ATG>ATT		vacuolar protein sorting 13A isoform A							161.0	160.0	160.0					9																	79984229		2203	4299	6502	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79984229G>T	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.8568G>T	9.37:g.79984229G>T	ENSP00000353422:p.Met2856Ile					VPS13A_uc004akp.3_Missense_Mutation_p.M2856I|VPS13A_uc004akq.3_Missense_Mutation_p.M2856I|VPS13A_uc004aks.2_Missense_Mutation_p.M2817I	p.M2856I	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN			63	8828	+			2856					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.8568G>T	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447101	0.63178	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	5.41	5.41	0.78517	.	0.079753	0.85682	D	0.000000	D	0.87657	0.6232	M	0.72479	2.2	0.80722	D	1	B;D;D;D	0.76494	0.364;0.998;0.997;0.999	P;D;D;D	0.78314	0.537;0.991;0.979;0.986	D	0.87004	0.2118	9	.	.	.	.	19.1733	0.93590	0.0:0.0:1.0:0.0	.	2817;2856;2856;2856	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	I	2856;2817;2856;2856	ENSP00000365821:M2856I;ENSP00000365823:M2817I;ENSP00000353422:M2856I;ENSP00000349985:M2856I	.	M	+	3	0	VPS13A	79174049	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.639000	0.83342	2.541000	0.85698	0.585000	0.79938	ATG		0.299	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		22	82	1	0	2.21704e-12	0.00278	3.75572e-12	22	82				
GRIN3A	116443	broad.mit.edu	37	9	104433094	104433094	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr9:104433094C>T	ENST00000361820.3	-	3	2200	c.1600G>A	c.(1600-1602)Gaa>Aaa	p.E534K		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	534					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CACAAGCCTTCATCATCTACC	0.473																																							uc004bbp.1		NA																	0				ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(1600-1602)GAA>AAA		glutamate receptor, ionotropic,	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						164.0	145.0	152.0					9																	104433094		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104433094C>T		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1600G>A	9.37:g.104433094C>T	ENSP00000355155:p.Glu534Lys					GRIN3A_uc004bbq.1_Missense_Mutation_p.E534K	p.E534K	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN			3	2201	-		Acute lymphoblastic leukemia(62;0.0568)	534			Extracellular (Potential).		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.1600G>A	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.710426	0.68730	.	.	ENSG00000198785	ENST00000361820	T	0.11063	2.81	5.76	5.76	0.90799	.	0.134474	0.52532	D	0.000062	T	0.14614	0.0353	L	0.47716	1.5	0.80722	D	1	B	0.25206	0.12	B	0.19391	0.025	T	0.02385	-1.1167	10	0.72032	D	0.01	.	20.3431	0.98773	0.0:1.0:0.0:0.0	.	534	Q8TCU5	NMD3A_HUMAN	K	534	ENSP00000355155:E534K	ENSP00000355155:E534K	E	-	1	0	GRIN3A	103472915	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.411000	0.80078	2.880000	0.98712	0.650000	0.86243	GAA		0.473	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			26	57	0	0	0	0.00333	0	26	57				
GRIN3A	116443	broad.mit.edu	37	9	104433100	104433100	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr9:104433100C>A	ENST00000361820.3	-	3	2194	c.1594G>T	c.(1594-1596)Gat>Tat	p.D532Y		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	532					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CCTTCATCATCTACCTCCCTT	0.488																																							uc004bbp.1		NA																	0				ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(1594-1596)GAT>TAT		glutamate receptor, ionotropic,	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						170.0	150.0	157.0					9																	104433100		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104433100C>A		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1594G>T	9.37:g.104433100C>A	ENSP00000355155:p.Asp532Tyr					GRIN3A_uc004bbq.1_Missense_Mutation_p.D532Y	p.D532Y	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN			3	2195	-		Acute lymphoblastic leukemia(62;0.0568)	532			Extracellular (Potential).		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.1594G>T	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.986381	0.74589	.	.	ENSG00000198785	ENST00000361820	T	0.15256	2.44	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.49047	0.1534	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.49735	-0.8908	10	0.87932	D	0	.	20.3431	0.98773	0.0:1.0:0.0:0.0	.	532	Q8TCU5	NMD3A_HUMAN	Y	532	ENSP00000355155:D532Y	ENSP00000355155:D532Y	D	-	1	0	GRIN3A	103472921	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.411000	0.80078	2.880000	0.98712	0.650000	0.86243	GAT		0.488	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			26	63	1	0	5.45024e-15	0.00333	9.59073e-15	26	63				
ABCA1	19	broad.mit.edu	37	9	107578428	107578428	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr9:107578428T>C	ENST00000374736.3	-	25	4128	c.3734A>G	c.(3733-3735)gAa>gGa	p.E1245G		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1245					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	ACTTACTTCTTCCAGGGTCGT	0.488																																							uc004bcl.2		NA																	0				large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17						c.(3733-3735)GAA>GGA		ATP-binding cassette, sub-family A member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						159.0	172.0	167.0					9																	107578428		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107578428T>C	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.3734A>G	9.37:g.107578428T>C	ENSP00000363868:p.Glu1245Gly						p.E1245G	NM_005502	NP_005493	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	25	4047	-			1245					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.3734A>G	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	T	28.9	4.961248	0.92791	.	.	ENSG00000165029	ENST00000374736	D	0.82803	-1.65	5.55	5.55	0.83447	.	0.095985	0.64402	D	0.000001	D	0.94208	0.8141	H	0.97051	3.93	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.96060	0.9038	10	0.87932	D	0	.	15.737	0.77853	0.0:0.0:0.0:1.0	.	1245	O95477	ABCA1_HUMAN	G	1245	ENSP00000363868:E1245G	ENSP00000363868:E1245G	E	-	2	0	ABCA1	106618249	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.120000	0.65058	0.529000	0.55759	GAA		0.488	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		37	151	0	0	0	0.00623	0	37	151				
AMBP	259	broad.mit.edu	37	9	116836424	116836424	+	Missense_Mutation	SNP	T	T	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr9:116836424T>C	ENST00000265132.3	-	4	608	c.346A>G	c.(346-348)Ata>Gta	p.I116V		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	116					cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TCCATGGTTATGTTCCATTCT	0.493																																							uc004bie.3		NA																	0				skin(1)	1						c.(346-348)ATA>GTA		alpha-1-microglobulin/bikunin preproprotein	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						174.0	137.0	150.0					9																	116836424		2203	4300	6503	SO:0001583	missense	259				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity	g.chr9:116836424T>C	X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"""Lipocalins"""	453	protein-coding gene	gene with protein product	"""growth-inhibiting protein 19"", ""uristatin"", ""complex-forming glycoprotein heterogeneous in charge"", ""bikunin"", ""inter-alpha-trypsin inhibitor light chain"", ""protein HC"", ""uronic-acid-rich protein"", ""trypstatin"""	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.346A>G	9.37:g.116836424T>C	ENSP00000265132:p.Ile116Val					AMBP_uc011lxk.1_Missense_Mutation_p.I57V|AMBP_uc010mvc.1_RNA	p.I116V	NM_001633	NP_001624	P02760	AMBP_HUMAN			4	609	-			116					P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Missense_Mutation	SNP	ENST00000265132.3	37	c.346A>G	CCDS6800.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-2.900301	0.00058	.	.	ENSG00000106927	ENST00000265132;ENST00000540645	T	0.07567	3.18	4.81	-9.62	0.00547	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	2.191890	0.01568	N	0.020464	T	0.04272	0.0118	N	0.19112	0.55	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.10450	0.005;0.003	T	0.27673	-1.0067	10	0.22706	T	0.39	.	3.2136	0.06691	0.1757:0.4176:0.1718:0.2349	.	57;116	B7Z8R6;P02760	.;AMBP_HUMAN	V	116;57	ENSP00000265132:I116V	ENSP00000265132:I116V	I	-	1	0	AMBP	115876245	0.000000	0.05858	0.000000	0.03702	0.099000	0.18886	-1.316000	0.02710	-3.367000	0.00178	-0.951000	0.02657	ATA		0.493	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	NM_001633		9	30	0	0	0	0.008291	0	9	30				
BRINP1	1620	broad.mit.edu	37	9	122011272	122011272	+	Nonsense_Mutation	SNP	G	G	T	rs115548564	byFrequency	TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr9:122011272G>T	ENST00000265922.3	-	3	836	c.375C>A	c.(373-375)taC>taA	p.Y125*	BRINP1_ENST00000373964.2_Nonsense_Mutation_p.Y125*	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	125	MACPF.				cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											GGTGGGTGCCGTACTTTTTGA	0.562																																							uc004bkc.2		NA																	0				skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						c.(373-375)TAC>TAA		deleted in bladder cancer 1 precursor							141.0	99.0	114.0					9																	122011272		2203	4300	6503	SO:0001587	stop_gained	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:122011272G>T	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.375C>A	9.37:g.122011272G>T	ENSP00000265922:p.Tyr125*					DBC1_uc004bkd.2_Nonsense_Mutation_p.Y125*	p.Y125*	NM_014618	NP_055433	O60477	DBC1_HUMAN			3	831	-			125			MACPF.		Q6IPV6|Q6P1A0|Q8WU22	Nonsense_Mutation	SNP	ENST00000265922.3	37	c.375C>A	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	G	41	8.573257	0.98868	.	.	ENSG00000078725	ENST00000373969;ENST00000265922;ENST00000373964	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.8604	13.339	0.60535	0.0723:0.0:0.9277:0.0	.	.	.	.	X	125	.	ENSP00000265922:Y125X	Y	-	3	2	DBC1	121051093	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.942000	0.56614	2.823000	0.97156	0.650000	0.86243	TAC		0.562	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		15	37	1	0	0.00316338	0.003163	0.00357257	15	37				
NOTCH1	4851	broad.mit.edu	37	9	139413985	139413985	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr9:139413985C>T	ENST00000277541.6	-	5	850	c.775G>A	c.(775-777)Gac>Aac	p.D259N	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	259	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGACAATCGTCGATATTTTCC	0.627			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																													uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(775-777)GAC>AAC		notch1 preproprotein							111.0	135.0	127.0					9																	139413985		2054	4192	6246	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139413985C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.775G>A	9.37:g.139413985C>T	ENSP00000277541:p.Asp259Asn	HNSCC(8;0.001)					p.D259N	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	5	775	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	259			Extracellular (Potential).|EGF-like 7; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.775G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.579622	0.65992	.	.	ENSG00000148400	ENST00000277541	D	0.95482	-3.72	5.12	5.12	0.69794	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.96009	0.8700	L	0.37561	1.115	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95247	0.8356	10	0.33940	T	0.23	.	16.0241	0.80528	0.0:1.0:0.0:0.0	.	259	P46531	NOTC1_HUMAN	N	259	ENSP00000277541:D259N	ENSP00000277541:D259N	D	-	1	0	NOTCH1	138533806	0.998000	0.40836	0.756000	0.31282	0.007000	0.05969	3.918000	0.56432	2.381000	0.81170	0.561000	0.74099	GAC		0.627	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		12	164	0	0	0	0.000978	0	12	164				
DDX53	168400	broad.mit.edu	37	X	23019760	23019760	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chrX:23019760G>A	ENST00000327968.5	+	1	1674	c.1586G>A	c.(1585-1587)cGa>cAa	p.R529Q	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	529	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						ATAGTATCCCGAGGTCTTGAT	0.383																																							uc004daj.2		NA																	0				large_intestine(1)|ovary(1)|kidney(1)	3						c.(1585-1587)CGA>CAA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 53							122.0	114.0	116.0					X																	23019760		2203	4300	6503	SO:0001583	missense	168400					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chrX:23019760G>A	AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"""DEAD-boxes"""	20083	protein-coding gene	gene with protein product	"""cancer associated gene"", ""cancer/testis antigen 26"""						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.1586G>A	X.37:g.23019760G>A	ENSP00000368667:p.Arg529Gln						p.R529Q	NM_182699	NP_874358	Q86TM3	DDX53_HUMAN			1	1674	+			529			Helicase C-terminal.		Q0D2N2|Q6NVV4	Missense_Mutation	SNP	ENST00000327968.5	37	c.1586G>A	CCDS35214.1	.	.	.	.	.	.	.	.	.	.	g	16.84	3.232789	0.58777	.	.	ENSG00000184735	ENST00000327968	T	0.78924	-1.22	4.32	2.54	0.30619	Helicase, C-terminal (3);	0.066890	0.64402	N	0.000013	D	0.91781	0.7400	H	0.99197	4.465	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83760	0.0214	10	0.87932	D	0	-3.7247	8.3863	0.32501	0.2036:0.0:0.7964:0.0	.	529	Q86TM3	DDX53_HUMAN	Q	529	ENSP00000368667:R529Q	ENSP00000368667:R529Q	R	+	2	0	DDX53	22929681	0.937000	0.31787	0.000000	0.03702	0.002000	0.02628	4.444000	0.60001	0.280000	0.22209	-0.169000	0.13324	CGA		0.383	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1	NM_182699		6	129	0	0	0	0.001984	0	6	129				
PDK3	5165	broad.mit.edu	37	X	24523382	24523382	+	Missense_Mutation	SNP	G	G	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chrX:24523382G>C	ENST00000379162.4	+	5	797	c.562G>C	c.(562-564)Gat>Cat	p.D188H	PDK3_ENST00000441463.2_Missense_Mutation_p.D188H	NM_005391.4	NP_005382.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	188	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cell death (GO:0008219)|cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|peptidyl-serine phosphorylation (GO:0018105)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|regulation of reactive oxygen species metabolic process (GO:2000377)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AGGAAGTATCGATCCCACCTG	0.453																																							uc004dbg.2		NA																	0				lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						c.(562-564)GAT>CAT		pyruvate dehydrogenase kinase 3 isoform 2							190.0	142.0	159.0					X																	24523382		2203	4300	6503	SO:0001583	missense	5165				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chrX:24523382G>C	L42452	CCDS14212.1, CCDS48088.1	Xp22.12	2008-02-05	2005-11-16		ENSG00000067992	ENSG00000067992			8811	protein-coding gene	gene with protein product		300906	"""pyruvate dehydrogenase kinase, isoenzyme 3"""			7499431	Standard	NM_001142386		Approved		uc004dbh.3	Q15120	OTTHUMG00000021269	ENST00000379162.4:c.562G>C	X.37:g.24523382G>C	ENSP00000368460:p.Asp188His					PDK3_uc004dbh.2_Missense_Mutation_p.D188H	p.D188H	NM_005391	NP_005382	Q15120	PDK3_HUMAN			5	791	+			188			Histidine kinase.		B4DXG6	Missense_Mutation	SNP	ENST00000379162.4	37	c.562G>C	CCDS14212.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875741	0.91664	.	.	ENSG00000067992	ENST00000379162;ENST00000441463	T;T	0.33438	1.41;1.41	5.6	5.6	0.85130	ATPase-like, ATP-binding domain (1);Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.53286	0.1787	L	0.55743	1.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.50056	-0.8872	10	0.51188	T	0.08	.	18.8827	0.92362	0.0:0.0:1.0:0.0	.	188;188	B4DXG6;Q15120	.;PDK3_HUMAN	H	188	ENSP00000368460:D188H;ENSP00000387536:D188H	ENSP00000368460:D188H	D	+	1	0	PDK3	24433303	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.918000	0.87506	2.493000	0.84123	0.600000	0.82982	GAT		0.453	PDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056097.1	NM_005391		8	72	0	0	0	0.006214	0	8	72				
IL1RAPL1	11141	broad.mit.edu	37	X	29417272	29417272	+	Splice_Site	SNP	G	G	C			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chrX:29417272G>C	ENST00000378993.1	+	5	1223	c.550G>C	c.(550-552)Gaa>Caa	p.E184Q	IL1RAPL1_ENST00000302196.4_Splice_Site_p.E184Q	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	184	Ig-like C2-type 2.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CTTCATATAGGAATGCAGGAC	0.294																																							uc004dby.2		NA																	0				ovary(3)|lung(1)|pancreas(1)	5						c.(550-552)GAA>CAA		interleukin 1 receptor accessory protein-like 1							59.0	57.0	58.0					X																	29417272		2201	4297	6498	SO:0001630	splice_region_variant	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29417272G>C	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.550-1G>C	X.37:g.29417272G>C							p.E184Q	NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN			5	1058	+			184			Ig-like C2-type 2.|Extracellular (Potential).		A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	c.550G>C	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441937	0.63067	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.78003	-1.14;-1.14	5.75	5.75	0.90469	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.095731	0.64402	D	0.000001	D	0.89451	0.6719	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90067	0.4160	9	.	.	.	.	17.81	0.88612	0.0:0.0:1.0:0.0	.	184	Q9NZN1	IRPL1_HUMAN	Q	184	ENSP00000368278:E184Q;ENSP00000305200:E184Q	.	E	+	1	0	IL1RAPL1	29327193	1.000000	0.71417	1.000000	0.80357	0.541000	0.35023	9.476000	0.97823	2.426000	0.82243	0.523000	0.50628	GAA		0.294	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271	Missense_Mutation	4	68	0	0	0	0.000602	0	4	68				
ZNF182	7569	broad.mit.edu	37	X	47836373	47836373	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chrX:47836373C>A	ENST00000396965.1	-	7	1463	c.1113G>T	c.(1111-1113)aaG>aaT	p.K371N	ZNF182_ENST00000305127.6_Missense_Mutation_p.K371N|ZNF182_ENST00000376943.3_Missense_Mutation_p.K352N	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	371					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(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						CATGGGGTTTCTTTCCTGTAT	0.363																																							uc004dir.2		NA																	0				ovary(2)|lung(1)	3						c.(1111-1113)AAG>AAT		zinc finger protein 21 isoform 1							104.0	103.0	103.0					X																	47836373		2203	4300	6503	SO:0001583	missense	7569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47836373C>A	AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"""Zinc fingers, C2H2-type"", ""-"""	13001	protein-coding gene	gene with protein product		314993	"""zinc finger protein 182 (HHZ150)"", ""zinc finger protein 21 (KOX 14)"""	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.1113G>T	X.37:g.47836373C>A	ENSP00000380165:p.Lys371Asn					ZNF182_uc004dis.2_Missense_Mutation_p.K352N|ZNF182_uc004dit.2_Missense_Mutation_p.K371N|ZNF182_uc011mlu.1_Missense_Mutation_p.K351N	p.K371N	NM_006962	NP_008893	P17025	ZN182_HUMAN			7	1459	-			371					A2IDD7|Q3KP67|Q96QH7	Missense_Mutation	SNP	ENST00000396965.1	37	c.1113G>T	CCDS35236.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.607901	0.46527	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	T;T;T	0.20069	2.1;2.1;2.1	4.31	3.44	0.39384	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29556	0.0737	L	0.35414	1.06	0.35541	D	0.803048	P;D;P	0.55800	0.941;0.973;0.901	P;P;P	0.62298	0.786;0.9;0.531	T	0.34502	-0.9826	9	0.87932	D	0	.	9.2193	0.37366	0.0:0.8888:0.0:0.1112	.	351;352;371	B4DRM0;Q96QH7;P17025	.;.;ZN182_HUMAN	N	352;371;371	ENSP00000366142:K352N;ENSP00000380165:K371N;ENSP00000306351:K371N	ENSP00000306351:K371N	K	-	3	2	ZNF182	47721317	0.981000	0.34729	1.000000	0.80357	0.995000	0.86356	0.386000	0.20702	0.953000	0.37825	0.422000	0.28245	AAG		0.363	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962		7	128	1	0	1.12685e-05	0.004482	1.47009e-05	7	128				
BMP15	9210	broad.mit.edu	37	X	50659497	50659497	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chrX:50659497T>G	ENST00000252677.3	+	2	1069	c.1069T>G	c.(1069-1071)Tgt>Ggt	p.C357G		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	357					female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					CCGGCCCTCCTGTGTCCCGTA	0.463																																							uc011mnw.1		NA																	0				ovary(2)	2						c.(1069-1071)TGT>GGT		bone morphogenetic protein 15 precursor							89.0	81.0	84.0					X																	50659497		2203	4299	6502	SO:0001583	missense	9210				female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity	g.chrX:50659497T>G	AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"""Bone morphogenetic proteins"""	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.1069T>G	X.37:g.50659497T>G	ENSP00000252677:p.Cys357Gly						p.C357G	NM_005448	NP_005439	O95972	BMP15_HUMAN			2	1069	+	Ovarian(276;0.236)		357					Q17RM6|Q5JST1|Q9UMS1	Missense_Mutation	SNP	ENST00000252677.3	37	c.1069T>G	CCDS14334.1	.	.	.	.	.	.	.	.	.	.	t	14.45	2.540191	0.45176	.	.	ENSG00000130385	ENST00000252677	D	0.99822	-6.94	5.58	5.58	0.84498	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99896	0.9950	H	0.98466	4.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96319	0.9235	10	0.87932	D	0	.	12.5724	0.56344	0.0:0.0:0.0:1.0	.	357	O95972	BMP15_HUMAN	G	357	ENSP00000252677:C357G	ENSP00000252677:C357G	C	+	1	0	BMP15	50676237	1.000000	0.71417	1.000000	0.80357	0.018000	0.09664	6.184000	0.72008	1.876000	0.54355	0.481000	0.45027	TGT		0.463	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056572.1	NM_005448		13	89	0	0	0	0.001855	0	13	89				
IQSEC2	23096	broad.mit.edu	37	X	53280041	53280041	+	Missense_Mutation	SNP	G	G	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chrX:53280041G>A	ENST00000375368.5	-	4	1887	c.1687C>T	c.(1687-1689)Cgc>Tgc	p.R563C	IQSEC2_ENST00000396435.3_Missense_Mutation_p.R573C|IQSEC2_ENST00000375365.2_Missense_Mutation_p.R368C			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	563	Pro-rich.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						GGACCCCTGCGAGTGCCTTCC	0.677																																							uc004dsd.2		NA																	0				ovary(3)	3						c.(1717-1719)CGC>TGC		IQ motif and Sec7 domain 2 isoform1							18.0	18.0	18.0					X																	53280041		2202	4293	6495	SO:0001583	missense	23096				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chrX:53280041G>A	AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"""mental retardation, X-linked 1 (non-dysmorphic)"""	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.1687C>T	X.37:g.53280041G>A	ENSP00000364517:p.Arg563Cys					IQSEC2_uc004dsc.2_Missense_Mutation_p.R368C	p.R573C	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN			5	1918	-			563			Pro-rich.		B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	ENST00000375368.5	37	c.1717C>T		.	.	.	.	.	.	.	.	.	.	g	18.19	3.569707	0.65765	.	.	ENSG00000124313	ENST00000396435;ENST00000375368;ENST00000375365	T;T;T	0.13901	2.55;2.55;2.65	5.37	5.37	0.77165	.	0.792726	0.10946	N	0.616650	T	0.23727	0.0574	N	0.11927	0.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.22347	-1.0219	10	0.41790	T	0.15	.	16.8728	0.86044	0.0:0.0:1.0:0.0	.	573;368	Q5JU85-2;Q5JU85-3	.;.	C	573;563;368	ENSP00000379712:R573C;ENSP00000364517:R563C;ENSP00000364514:R368C	ENSP00000364514:R368C	R	-	1	0	IQSEC2	53296766	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.617000	0.61204	2.246000	0.74042	0.597000	0.82753	CGC		0.677	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding		XM_291345		8	18	0	0	0	0.00308	0	8	18				
ZDHHC15	158866	broad.mit.edu	37	X	74644525	74644525	+	Missense_Mutation	SNP	T	T	G			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chrX:74644525T>G	ENST00000373367.3	-	8	928	c.698A>C	c.(697-699)tAc>tCc	p.Y233S	ZDHHC15_ENST00000373361.3_3'UTR|ZDHHC15_ENST00000541184.1_Missense_Mutation_p.Y224S	NM_144969.2	NP_659406.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	233					establishment of protein localization (GO:0045184)|protein palmitoylation (GO:0018345)|synaptic vesicle maturation (GO:0016188)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						CCAACAATGGTAACCAAAGAG	0.393																																							uc004ecg.2		NA																	0				ovary(2)	2						c.(697-699)TAC>TCC		zinc finger, DHHC-type containing 15 isoform 1							87.0	69.0	75.0					X																	74644525		2203	4300	6503	SO:0001583	missense	158866					integral to membrane	zinc ion binding	g.chrX:74644525T>G	AK056374	CCDS14430.1, CCDS55454.1	Xq13.3	2008-05-02			ENSG00000102383	ENSG00000102383		"""Zinc fingers, DHHC-type"""	20342	protein-coding gene	gene with protein product		300576					Standard	NM_144969		Approved	FLJ31812, MRX91	uc004ecg.3	Q96MV8	OTTHUMG00000021866	ENST00000373367.3:c.698A>C	X.37:g.74644525T>G	ENSP00000362465:p.Tyr233Ser					ZDHHC15_uc004ech.2_Missense_Mutation_p.Y224S|ZDHHC15_uc011mqo.1_RNA	p.Y233S	NM_144969	NP_659406	Q96MV8	ZDH15_HUMAN			8	1176	-			233					B3KVG7|Q3SY30|Q6UWH3	Missense_Mutation	SNP	ENST00000373367.3	37	c.698A>C	CCDS14430.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.490012	0.84962	.	.	ENSG00000102383	ENST00000373367;ENST00000541184	T;T	0.23950	1.88;1.88	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.51890	0.1701	M	0.74389	2.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.56141	-0.8028	10	0.87932	D	0	-18.5395	14.2923	0.66286	0.0:0.0:0.0:1.0	.	224;233	B3KVG7;Q96MV8	.;ZDH15_HUMAN	S	233;224	ENSP00000362465:Y233S;ENSP00000445420:Y224S	ENSP00000362465:Y233S	Y	-	2	0	ZDHHC15	74561250	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.452000	0.80683	1.973000	0.57446	0.486000	0.48141	TAC		0.393	ZDHHC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057283.1	NM_144969		3	21	0	0	0	0.004672	0	3	21				
ATRX	546	broad.mit.edu	37	X	76855002	76855002	+	Missense_Mutation	SNP	C	C	T			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chrX:76855002C>T	ENST00000373344.5	-	25	6048	c.5834G>A	c.(5833-5835)gGa>gAa	p.G1945E	ATRX_ENST00000395603.3_Missense_Mutation_p.G1907E|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1945	Poly-Ser.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ACTGCCACTTCCACTTGAGCT	0.363			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																uc004ecp.3		NA		Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		1	Unknown(1)		bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(5833-5835)GGA>GAA		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						450.0	414.0	426.0					X																	76855002		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76855002C>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5834G>A	X.37:g.76855002C>T	ENSP00000362441:p.Gly1945Glu					ATRX_uc004ecq.3_Missense_Mutation_p.G1907E|ATRX_uc004eco.3_Missense_Mutation_p.G1730E	p.G1945E	NM_000489	NP_000480	P46100	ATRX_HUMAN			25	6066	-			1945			Poly-Ser.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.5834G>A	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.526769	0.27299	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.91894	-2.92;-2.93	5.64	4.77	0.60923	.	0.228496	0.36338	U	0.002653	T	0.78136	0.4236	N	0.03608	-0.345	0.80722	D	1	B;B	0.26081	0.141;0.085	B;B	0.22753	0.041;0.041	T	0.74022	-0.3798	10	0.13853	T	0.58	-8.9589	8.8948	0.35458	0.0:0.7707:0.0:0.2293	.	1907;1945	P46100-4;P46100	.;ATRX_HUMAN	E	1945;1907	ENSP00000362441:G1945E;ENSP00000378967:G1907E	ENSP00000362441:G1945E	G	-	2	0	ATRX	76741658	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	2.317000	0.43770	2.348000	0.79779	0.594000	0.82650	GGA		0.363	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		44	383	0	0	0	0.00361	0	44	383				
P2RY10	27334	broad.mit.edu	37	X	78216671	78216671	+	Silent	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chrX:78216671C>A	ENST00000171757.2	+	4	934	c.654C>A	c.(652-654)acC>acA	p.T218T	P2RY10_ENST00000544091.1_Silent_p.T218T	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CATGGTGTACCTGGAAAACTA	0.478																																							uc004ede.2		NA																	0				ovary(2)|lung(2)|breast(1)	5						c.(652-654)ACC>ACA		G-protein coupled purinergic receptor P2Y10							144.0	113.0	123.0					X																	78216671		2203	4300	6503	SO:0001819	synonymous_variant	27334					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78216671C>A	AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.654C>A	X.37:g.78216671C>A						P2RY10_uc004edf.2_Silent_p.T218T	p.T218T	NM_014499	NP_055314	O00398	P2Y10_HUMAN			4	1023	+			218			Cytoplasmic (Potential).		D3DTE5|Q4VBN7|Q86V16	Silent	SNP	ENST00000171757.2	37	c.654C>A	CCDS14442.1																																																																																				0.478	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1			10	44	1	0	3.07112e-06	0.000978	4.05316e-06	10	44				
COL4A6	1288	broad.mit.edu	37	X	107431764	107431764	+	Missense_Mutation	SNP	C	C	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chrX:107431764C>A	ENST00000372216.4	-	21	1673	c.1573G>T	c.(1573-1575)Ggc>Tgc	p.G525C	COL4A6_ENST00000538570.1_Missense_Mutation_p.G524C|COL4A6_ENST00000334504.7_Missense_Mutation_p.G524C|COL4A6_ENST00000545689.1_Missense_Mutation_p.G524C|COL4A6_ENST00000394872.2_Missense_Mutation_p.G525C	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	525	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCTGCTGGGCCCTGTGCACCC	0.572									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	Melanoma(87;1895 1945 2589 7165)	uc004enw.3		NA																	0				ovary(6)|urinary_tract(1)|large_intestine(1)	8						c.(1573-1575)GGC>TGC		type IV alpha 6 collagen isoform A precursor							45.0	45.0	45.0					X																	107431764		2203	4300	6503	SO:0001583	missense	1288	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107431764C>A	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.1573G>T	X.37:g.107431764C>A	ENSP00000361290:p.Gly525Cys					COL4A6_uc004env.3_Missense_Mutation_p.G524C|COL4A6_uc011msn.1_Missense_Mutation_p.G524C|COL4A6_uc010npk.2_Missense_Mutation_p.G524C	p.G525C	NM_001847	NP_001838	Q14031	CO4A6_HUMAN			21	1676	-			525			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.1573G>T	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.258773	0.39896	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.99637	-5.78;-5.78;-5.78;-6.29;-5.78	4.12	4.12	0.48240	.	0.000000	0.38605	N	0.001629	D	0.99834	0.9925	H	0.99555	4.625	0.45087	D	0.998105	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96411	0.9304	10	0.59425	D	0.04	.	16.5704	0.84611	0.0:1.0:0.0:0.0	.	524;524;525;524	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	C	525;524;525;524;524;524	ENSP00000361290:G525C;ENSP00000334733:G524C;ENSP00000378340:G525C;ENSP00000443707:G524C;ENSP00000445236:G524C	ENSP00000334733:G524C	G	-	1	0	COL4A6	107318420	1.000000	0.71417	0.900000	0.35374	0.795000	0.44927	6.118000	0.71583	2.295000	0.77249	0.600000	0.82982	GGC		0.572	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			6	56	1	0	2.0095e-06	0.001984	2.73147e-06	6	56				
OR10Z1	128368	broad.mit.edu	37	1	158576398	158576398	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:158576398delC	ENST00000361284.1	+	1	170	c.170delC	c.(169-171)accfs	p.T57fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CATCTGCACACCCCCATGTAC	0.517																																							uc010pio.1		NA																	0				pancreas(1)|skin(1)	2						c.(169-171)ACCfs		olfactory receptor, family 10, subfamily Z,							258.0	249.0	252.0					1																	158576398		2203	4300	6503	SO:0001589	frameshift_variant	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576398delC	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.170delC	1.37:g.158576398delC	ENSP00000354707:p.Thr57fs						p.T57fs	NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN			1	170	+	all_hematologic(112;0.0378)		57			Helical; Name=2; (Potential).		Q5VYL0|Q6IFR7	Frame_Shift_Del	DEL	ENST00000361284.1	37	c.170delC	CCDS30901.1																																																																																				0.517	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		17	343	NA	NA	NA	NA	NA	17	343	---	---	---	---
LY9	4063	broad.mit.edu	37	1	160793397	160793398	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:160793397_160793398insA	ENST00000263285.6	+	8	1671_1672	c.1641_1642insA	c.(1642-1644)gacfs	p.D548fs	LY9_ENST00000368041.2_Frame_Shift_Ins_p.D418fs|LY9_ENST00000392203.4_Frame_Shift_Ins_p.D458fs|LY9_ENST00000341032.4_Intron|LY9_ENST00000368037.5_Frame_Shift_Ins_p.D534fs|LY9_ENST00000368040.1_Frame_Shift_Ins_p.D186fs			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	548					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AGGAGGATGAGGACAGGCCTGA	0.584																																							uc001fwu.2		NA																	0				ovary(1)	1						c.(1639-1644)GAGGACfs		lymphocyte antigen 9 isoform a																																				SO:0001589	frameshift_variant	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160793397_160793398insA	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	Exception_encountered	1.37:g.160793397_160793398insA	ENSP00000263285:p.Asp548fs					LY9_uc001fwv.2_Frame_Shift_Ins_p.E533fs|LY9_uc001fww.2_Frame_Shift_Ins_p.E457fs|LY9_uc001fwx.2_Frame_Shift_Ins_p.E457fs|LY9_uc001fwy.1_Frame_Shift_Ins_p.E345fs|LY9_uc001fwz.2_Frame_Shift_Ins_p.E185fs	p.E547fs	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		8	1691_1692	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		547_548			Cytoplasmic (Potential).		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Frame_Shift_Ins	INS	ENST00000263285.6	37	c.1641_1642insA	CCDS30916.1																																																																																				0.584	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348		9	98	NA	NA	NA	NA	NA	9	98	---	---	---	---
NLRP3	114548	broad.mit.edu	37	1	247588812	247588812	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr1:247588812delG	ENST00000336119.3	+	3	2813	c.2067delG	c.(2065-2067)aagfs	p.K689fs	NLRP3_ENST00000391827.2_Frame_Shift_Del_p.K689fs|NLRP3_ENST00000391828.3_Frame_Shift_Del_p.K689fs|NLRP3_ENST00000366497.2_Frame_Shift_Del_p.K689fs|NLRP3_ENST00000348069.2_Frame_Shift_Del_p.K689fs|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Frame_Shift_Del_p.K689fs	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	689					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ACATGCCCAAGGAGGAAGAGG	0.512																																							uc001icr.2		NA																	0				lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(2065-2067)AAGfs		NLR family, pyrin domain containing 3 isoform a							107.0	95.0	99.0					1																	247588812		2203	4300	6503	SO:0001589	frameshift_variant	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247588812delG	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2067delG	1.37:g.247588812delG	ENSP00000337383:p.Lys689fs					NLRP3_uc001ics.2_Frame_Shift_Del_p.K689fs|NLRP3_uc001icu.2_Frame_Shift_Del_p.K689fs|NLRP3_uc001icw.2_Frame_Shift_Del_p.K689fs|NLRP3_uc001icv.2_Frame_Shift_Del_p.K689fs|NLRP3_uc010pyw.1_Frame_Shift_Del_p.K687fs|NLRP3_uc001ict.1_Frame_Shift_Del_p.K687fs	p.K689fs	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		5	2205	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	689					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Frame_Shift_Del	DEL	ENST00000336119.3	37	c.2067delG	CCDS1632.1																																																																																				0.512	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		7	59	NA	NA	NA	NA	NA	7	59	---	---	---	---
CNOT1	23019	broad.mit.edu	37	16	58620484	58620503	+	Frame_Shift_Del	DEL	TCTTGTCCAACTCCAAAGGC	TCTTGTCCAACTCCAAAGGC	-			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	TCTTGTCCAACTCCAAAGGC	TCTTGTCCAACTCCAAAGGC	-	-	TCTTGTCCAACTCCAAAGGC	TCTTGTCCAACTCCAAAGGC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr16:58620484_58620503delTCTTGTCCAACTCCAAAGGC	ENST00000317147.5	-	7	915_934	c.583_602delGCCTTTGGAGTTGGACAAGA	c.(583-603)gcctttggagttggacaagaafs	p.AFGVGQE195fs	CNOT1_ENST00000569240.1_Frame_Shift_Del_p.AFGVGQE195fs|CNOT1_ENST00000441024.2_Frame_Shift_Del_p.AFGVGQE195fs	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	195					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.Q200H(2)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GTCTATCTGTTCTTGTCCAACTCCAAAGGCTCCCTTCTGC	0.491																																							uc002env.2		NA																	2	Substitution - Missense(2)		endometrium(2)	ovary(4)|central_nervous_system(2)	6						c.(583-603)GCCTTTGGAGTTGGACAAGAAfs		CCR4-NOT transcription complex, subunit 1																																				SO:0001589	frameshift_variant	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58620484_58620503delTCTTGTCCAACTCCAAAGGC	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.583_602delGCCTTTGGAGTTGGACAAGA	16.37:g.58620484_58620503delTCTTGTCCAACTCCAAAGGC	ENSP00000320949:p.Ala195fs					CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Frame_Shift_Del_p.A195fs|CNOT1_uc002enx.2_Frame_Shift_Del_p.A195fs|CNOT1_uc002enz.1_Intron	p.A195fs	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	7	876_895	-			195_201					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Frame_Shift_Del	DEL	ENST00000317147.5	37	c.583_602delGCCTTTGGAGTTGGACAAGA	CCDS10799.1																																																																																				0.491	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		42	297	NA	NA	NA	NA	NA	42	297	---	---	---	---
WDR62	284403	broad.mit.edu	37	19	36583666	36583668	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	GCA	GCA	-	-	GCA	GCA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr19:36583666_36583668delGCA	ENST00000270301.7	+	19	2286_2288	c.2286_2288delGCA	c.(2284-2289)cggcag>cgg	p.Q766del	WDR62_ENST00000401500.2_In_Frame_Del_p.Q766del			O43379	WDR62_HUMAN	WD repeat domain 62	766					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTGACCACCGGCAGCAGCAGCAG	0.616																																							uc002odc.2		NA																	0					0						c.(2284-2289)CGGCAG>CGG		WD repeat domain 62 isoform 2																																				SO:0001651	inframe_deletion	284403				cerebral cortex development	nucleus		g.chr19:36583666_36583668delGCA	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.2286_2288delGCA	19.37:g.36583675_36583677delGCA	ENSP00000270301:p.Gln766del					WDR62_uc002odd.2_In_Frame_Del_p.Q766del	p.Q766del	NM_173636	NP_775907	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		19	2377_2379	+	Esophageal squamous(110;0.162)		766					Q63HP9|Q659D7|Q8NBF7|Q96AD9	In_Frame_Del	DEL	ENST00000270301.7	37	c.2286_2288delGCA	CCDS33001.1																																																																																				0.616	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		7	130	NA	NA	NA	NA	NA	7	130	---	---	---	---
ZNF142	7701	broad.mit.edu	37	2	219508459	219508459	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr2:219508459delG	ENST00000449707.1	-	8	3201	c.2780delC	c.(2779-2781)ccafs	p.P928fs	ZNF142_ENST00000411696.2_Frame_Shift_Del_p.P928fs	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	928					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(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGATGCAGGTGGGGGCTTCCC	0.547																																					Colon(170;867 1942 8995 15834 18053)	Colon(170;867 1942 8995 15834 18053)	uc002vin.2		NA																	0				breast(2)|ovary(1)|skin(1)	4						c.(2779-2781)CCAfs		zinc finger protein 142							150.0	154.0	153.0					2																	219508459		1917	4122	6039	SO:0001589	frameshift_variant	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219508459delG	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.2780delC	2.37:g.219508459delG	ENSP00000408643:p.Pro928fs					ZNF142_uc002vil.2_Frame_Shift_Del_p.P888fs|ZNF142_uc010fvt.2_Frame_Shift_Del_p.P764fs|ZNF142_uc002vim.2_Frame_Shift_Del_p.P764fs	p.P927fs	NM_001105537	NP_001099007	P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	8	3216	-		Renal(207;0.0474)	927					Q92510	Frame_Shift_Del	DEL	ENST00000449707.1	37	c.2780delC	CCDS42817.1																																																																																				0.547	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		31	185	NA	NA	NA	NA	NA	31	185	---	---	---	---
SPEG	10290	broad.mit.edu	37	2	220313626	220313626	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr2:220313626delG	ENST00000312358.7	+	4	1878	c.1746delG	c.(1744-1746)ccgfs	p.P582fs	SPEG_ENST00000396698.1_Frame_Shift_Del_p.P478fs|SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396695.2_5'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	582	Pro-rich.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGACAGAGCCGGGGGAAGGCC	0.771																																							uc010fwg.2		NA																	0				stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(1744-1746)CCGfs		SPEG complex locus							3.0	4.0	4.0					2																	220313626		1572	3516	5088	SO:0001589	frameshift_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220313626delG	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.1746delG	2.37:g.220313626delG	ENSP00000311684:p.Pro582fs					SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_5'UTR|SPEG_uc002vln.1_5'UTR|SPEG_uc002vlp.1_5'Flank	p.P582fs	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	4	1746	+		Renal(207;0.0183)	582			Pro-rich.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Frame_Shift_Del	DEL	ENST00000312358.7	37	c.1746delG	CCDS42824.1																																																																																				0.771	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
MEI1	150365	broad.mit.edu	37	22	42110055	42110055	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr22:42110055delC	ENST00000401548.3	+	4	439	c.399delC	c.(397-399)tgcfs	p.C133fs	MEI1_ENST00000540833.1_5'UTR|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_5'UTR	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CTATCCGTTGCCTGCTGGATG	0.483																																							uc003baz.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(397-399)TGCfs		meiosis defective 1							54.0	57.0	56.0					22																	42110055		1994	4172	6166	SO:0001589	frameshift_variant	150365						binding	g.chr22:42110055delC	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.399delC	22.37:g.42110055delC	ENSP00000384115:p.Cys133fs					MEI1_uc003bay.3_Frame_Shift_Del_p.C133fs|MEI1_uc011apd.1_RNA	p.C133fs	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN			4	424	+			133						Frame_Shift_Del	DEL	ENST00000401548.3	37	c.399delC	CCDS46718.1																																																																																				0.483	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513		2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
FAM71B	153745	broad.mit.edu	37	5	156589877	156589877	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr5:156589877delG	ENST00000302938.4	-	2	1494	c.1399delC	c.(1399-1401)cacfs	p.H467fs		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	467						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCGGACCGGTGGGAAGACGCT	0.517																																							uc003lwn.2		NA																	0				ovary(4)|pancreas(1)|skin(1)	6						c.(1399-1401)CACfs		family with sequence similarity 71, member B							198.0	187.0	191.0					5																	156589877		2203	4300	6503	SO:0001589	frameshift_variant	153745					nucleus		g.chr5:156589877delG		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1399delC	5.37:g.156589877delG	ENSP00000305596:p.His467fs						p.H467fs	NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1499	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	467					Q1EDD9|Q8TC64|Q96LY8	Frame_Shift_Del	DEL	ENST00000302938.4	37	c.1399delC	CCDS4335.1																																																																																				0.517	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		14	167	NA	NA	NA	NA	NA	14	167	---	---	---	---
TMEM67	91147	broad.mit.edu	37	8	94821088	94821088	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr8:94821088delA	ENST00000453321.3	+	24	2518	c.2460delA	c.(2458-2460)agafs	p.R820fs	TMEM67_ENST00000409623.3_Frame_Shift_Del_p.R739fs	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	820			R -> S (in COACHS). {ECO:0000269|PubMed:19058225}.		cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			GTAGCCAGAGAGGTTTGGTAC	0.313																																							uc011lgk.1		NA																	0				ovary(2)	2	GRCh37	CM090683	TMEM67	M		c.(2458-2460)AGAfs		meckelin isoform 1							61.0	61.0	61.0					8																	94821088		2203	4300	6503	SO:0001589	frameshift_variant	91147				cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding	g.chr8:94821088delA	BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"""Meckelin"""	609884	"""Meckel syndrome, type 3"""	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.2460delA	8.37:g.94821088delA	ENSP00000389998:p.Arg820fs					TMEM67_uc010maw.2_Frame_Shift_Del_p.R526fs|TMEM67_uc003yga.3_Frame_Shift_Del_p.R739fs|TMEM67_uc011lgl.1_Frame_Shift_Del_p.R219fs	p.R820fs	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00896)		24	2531	+	Breast(36;4.14e-07)		820		R -> S (in COACHS).			B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Frame_Shift_Del	DEL	ENST00000453321.3	37	c.2460delA	CCDS6258.2																																																																																				0.313	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2	NM_153704		14	79	NA	NA	NA	NA	NA	14	79	---	---	---	---
SQLE	6713	broad.mit.edu	37	8	126011893	126011893	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr8:126011893delC	ENST00000265896.5	+	1	1146	c.248delC	c.(247-249)tccfs	p.S83fs	RP11-6D1.3_ENST00000523030.1_RNA|SQLE_ENST00000523430.1_Intron	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	83					cellular aromatic compound metabolic process (GO:0006725)|cholesterol biosynthetic process (GO:0006695)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|squalene monooxygenase activity (GO:0004506)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TGGGCCAAATCCCCCCCTGAA	0.547																																							uc011liq.1		NA																	0				ovary(1)|breast(1)	2						c.(247-249)TCCfs		squalene epoxidase	Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)						32.0	33.0	33.0					8																	126011893		1856	4117	5973	SO:0001589	frameshift_variant	6713				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity	g.chr8:126011893delC	D78130	CCDS47918.1	8q24.1	2014-06-23			ENSG00000104549	ENSG00000104549	1.14.13.132		11279	protein-coding gene	gene with protein product	"""squalene monooxygenase"""	602019				9286711	Standard	NM_003129		Approved		uc011liq.2	Q14534	OTTHUMG00000164990	ENST00000265896.5:c.248delC	8.37:g.126011893delC	ENSP00000265896:p.Ser83fs						p.S83fs	NM_003129	NP_003120	Q14534	ERG1_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		1	1174	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		83					Q9UEK6	Frame_Shift_Del	DEL	ENST00000265896.5	37	c.248delC	CCDS47918.1																																																																																				0.547	SQLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381362.1	NM_003129		7	36	NA	NA	NA	NA	NA	7	36	---	---	---	---
SUSD1	64420	broad.mit.edu	37	9	114842405	114842405	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-7672-01A-11D-2063-08	TCGA-44-7672-10A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9982bd67-c7eb-4c68-b9c4-2907ef244790	df1444af-0bbc-4596-863f-47afa29cae67	g.chr9:114842405delG	ENST00000374270.3	-	11	1687	c.1515delC	c.(1513-1515)accfs	p.T505fs	SUSD1_ENST00000374263.3_Frame_Shift_Del_p.T505fs|SUSD1_ENST00000374264.2_Frame_Shift_Del_p.T505fs	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	505						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						ATCTCAAGCAGGTTTCATTAA	0.338																																							uc004bfu.2		NA																	0					0						c.(1513-1515)ACCfs		sushi domain containing 1 precursor							171.0	156.0	161.0					9																	114842405		2203	4300	6503	SO:0001589	frameshift_variant	64420					integral to membrane	calcium ion binding	g.chr9:114842405delG	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.1515delC	9.37:g.114842405delG	ENSP00000363388:p.Thr505fs					SUSD1_uc010mui.2_Frame_Shift_Del_p.T505fs|SUSD1_uc010muj.2_Frame_Shift_Del_p.T505fs	p.T505fs	NM_022486	NP_071931	Q6UWL2	SUSD1_HUMAN			11	1556	-			505			Extracellular (Potential).		A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Frame_Shift_Del	DEL	ENST00000374270.3	37	c.1515delC	CCDS6783.1																																																																																				0.338	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486		7	83	NA	NA	NA	NA	NA	7	83	---	---	---	---
