#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PLA2G2D	26279	broad.mit.edu	37	1	20440744	20440744	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:20440744C>G	ENST00000375105.3	-	4	359	c.301G>C	c.(301-303)Gga>Cga	p.G101R		NM_012400.2	NP_036532.1	Q9UNK4	PA2GD_HUMAN	phospholipase A2, group IID	101					glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			endometrium(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CACCAGCTTCCCTTGTCAGCT	0.557										Multiple Myeloma(11;0.12)																											Melanoma(60;742 1548 31762 39240)	uc001bcz.2		NA																	0					0						c.(301-303)GGA>CGA		phospholipase A2, group IID precursor							59.0	56.0	57.0					1																	20440744		2203	4300	6503	SO:0001583	missense	26279				inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	g.chr1:20440744C>G	AF112982	CCDS203.1, CCDS72721.1	1p36.12	2008-09-19			ENSG00000117215	ENSG00000117215	3.1.1.4		9033	protein-coding gene	gene with protein product		605630				10455175	Standard	NM_012400		Approved	sPLA2S	uc001bcz.4	Q9UNK4	OTTHUMG00000002701	ENST00000375105.3:c.301G>C	1.37:g.20440744C>G	ENSP00000364246:p.Gly101Arg	Multiple Myeloma(11;0.12)				PLA2G2D_uc009vpo.2_RNA	p.G101R	NM_012400	NP_036532	Q9UNK4	PA2GD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	4	318	-		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	101					A8K2Z1|B1AEL9|Q9UK01	Missense_Mutation	SNP	ENST00000375105.3	37	c.301G>C	CCDS203.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.219598	0.58560	.	.	ENSG00000117215	ENST00000375105	T	0.26223	1.75	4.92	3.99	0.46301	Phospholipase A2 (3);	0.261790	0.27554	N	0.018855	T	0.26448	0.0646	L	0.52266	1.64	0.35020	D	0.757796	B	0.28636	0.218	B	0.35114	0.196	T	0.40059	-0.9583	10	0.72032	D	0.01	-21.2134	9.5489	0.39297	0.0:0.8986:0.0:0.1014	.	101	Q9UNK4	PA2GD_HUMAN	R	101	ENSP00000364246:G101R	ENSP00000364246:G101R	G	-	1	0	PLA2G2D	20313331	0.020000	0.18652	0.862000	0.33874	0.728000	0.41692	1.271000	0.33098	2.263000	0.75096	0.462000	0.41574	GGA		0.557	PLA2G2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007683.1			13	37	0	0	0	0	13	37				
HSPG2	3339	broad.mit.edu	37	1	22178186	22178186	+	Silent	SNP	G	G	A	rs150649767	byFrequency	TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:22178186G>A	ENST00000374695.3	-	55	7090	c.7011C>T	c.(7009-7011)gcC>gcT	p.A2337A	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2337	Ig-like C2-type 8.				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)	GGGTGCTGCCGGCAGCTGAGG	0.652																																						uc001bfj.2		NA																	0				ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(7009-7011)GCC>GCT		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)			0,4406		0,0,2203	83.0	89.0	87.0		7011	-11.0	0.0	1	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HSPG2	NM_005529.5		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		2337/4392	22178186	1,13005	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.chr1:22178186G>A	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.7011C>T	1.37:g.22178186G>A						HSPG2_uc009vqd.2_Silent_p.A2338A	p.A2337A	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)	55	7051	-		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)	2337			Ig-like C2-type 8.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.7011C>T	CCDS30625.1																																																																																				0.652	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		31	78	0	0	0	0	31	78				
C1QC	714	broad.mit.edu	37	1	22974125	22974125	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:22974125C>T	ENST00000374639.3	+	3	705	c.587C>T	c.(586-588)aCg>aTg	p.T196M	C1QC_ENST00000374637.1_Missense_Mutation_p.T196M|C1QC_ENST00000374640.4_Missense_Mutation_p.T196M	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	196	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGTGGCCACACGTCCAAAACC	0.597																																					Ovarian(26;671 750 8290 29071 43278)	uc001bgc.3		NA																	0					0						c.(586-588)ACG>ATG		complement component 1, q subcomponent, C chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						122.0	114.0	117.0					1																	22974125		2203	4300	6503	SO:0001583	missense	714				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen		g.chr1:22974125C>T	AK057792	CCDS227.1	1p36.11	2014-09-17	2006-02-09	2006-02-09	ENSG00000159189	ENSG00000159189		"""Complement system"""	1245	protein-coding gene	gene with protein product		120575	"""complement component 1, q subcomponent, gamma polypeptide"""	C1QG		1706597	Standard	NM_001114101		Approved		uc001bga.4	P02747	OTTHUMG00000002891	ENST00000374639.3:c.587C>T	1.37:g.22974125C>T	ENSP00000363770:p.Thr196Met					C1QC_uc001bga.3_Missense_Mutation_p.T196M|C1QC_uc001bgb.2_Missense_Mutation_p.T196M	p.T196M	NM_172369	NP_758957	P02747	C1QC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	3	690	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	196			C1q.		Q7Z502|Q96DL2|Q96H05	Missense_Mutation	SNP	ENST00000374639.3	37	c.587C>T	CCDS227.1	.	.	.	.	.	.	.	.	.	.	C	0.028	-1.352059	0.01256	.	.	ENSG00000159189	ENST00000374640;ENST00000374639;ENST00000374637	T;T;T	0.75260	-0.92;-0.92;-0.92	4.59	2.01	0.26516	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.456273	0.25783	N	0.028339	T	0.37293	0.0998	N	0.00885	-1.115	0.09310	N	1	B	0.17667	0.023	B	0.19148	0.024	T	0.29243	-1.0018	10	0.24483	T	0.36	.	4.4296	0.11520	0.1454:0.1787:0.0:0.6759	.	196	P02747	C1QC_HUMAN	M	196	ENSP00000363771:T196M;ENSP00000363770:T196M;ENSP00000363768:T196M	ENSP00000363768:T196M	T	+	2	0	C1QC	22846712	0.108000	0.22018	0.896000	0.35187	0.052000	0.14988	0.325000	0.19628	0.600000	0.29862	-0.459000	0.05422	ACG		0.597	C1QC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008083.1	NM_172369		24	73	0	0	0	0	24	73				
MYOM3	127294	broad.mit.edu	37	1	24434494	24434494	+	Silent	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:24434494G>A	ENST00000374434.3	-	3	393	c.231C>T	c.(229-231)tcC>tcT	p.S77S	MYOM3_ENST00000329601.7_Silent_p.S77S|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000330966.7_Silent_p.S78S	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	77						M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		AAGACAGCTCGGAGGAGGCCG	0.652																																						uc001bin.3		NA																	0				skin(2)|ovary(1)	3						c.(229-231)TCC>TCT		myomesin family, member 3							44.0	50.0	48.0					1																	24434494		2012	4157	6169	SO:0001819	synonymous_variant	127294							g.chr1:24434494G>A	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.231C>T	1.37:g.24434494G>A						MYOM3_uc001bio.2_Silent_p.S77S|MYOM3_uc001bip.1_5'UTR	p.S77S	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	3	394	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	77					A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Silent	SNP	ENST00000374434.3	37	c.231C>T	CCDS41281.1																																																																																				0.652	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		15	43	0	0	0	0	15	43				
KDF1	126695	broad.mit.edu	37	1	27276605	27276605	+	Silent	SNP	G	G	A	rs368907239		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:27276605G>A	ENST00000320567.5	-	4	1240	c.1152C>T	c.(1150-1152)acC>acT	p.T384T		NM_152365.2	NP_689578.2	Q8NAX2	KDF1_HUMAN		384					developmental growth (GO:0048589)|establishment of skin barrier (GO:0061436)|keratinocyte development (GO:0003334)|limb epidermis development (GO:0060887)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|positive regulation of epidermal cell differentiation (GO:0045606)|regulation of epidermal cell division (GO:0010482)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		AGTCTGTGTCGGTGCCCTGGA	0.597																																						uc001bni.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(1150-1152)ACC>ACT		hypothetical protein LOC126695		G		0,4406		0,0,2203	97.0	78.0	85.0		1152	-8.3	0.7	1		85	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C1orf172	NM_152365.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		384/399	27276605	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	126695							g.chr1:27276605G>A																												ENST00000320567.5:c.1152C>T	1.37:g.27276605G>A							p.T384T	NM_152365	NP_689578	Q8NAX2	CA172_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)	4	1241	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	384					Q5QP32|Q8N0S7	Silent	SNP	ENST00000320567.5	37	c.1152C>T	CCDS293.1																																																																																				0.597	C1orf172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012340.1			14	37	0	0	0	0	14	37				
HIVEP3	59269	broad.mit.edu	37	1	41979227	41979227	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:41979227C>T	ENST00000372583.1	-	8	6550	c.5665G>A	c.(5665-5667)Gca>Aca	p.A1889T	HIVEP3_ENST00000247584.5_Missense_Mutation_p.A1889T|HIVEP3_ENST00000429157.2_Missense_Mutation_p.A1889T|HIVEP3_ENST00000372584.1_Missense_Mutation_p.A1889T|HIVEP3_ENST00000460604.1_5'UTR	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1889					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GCCCGCAGTGCATGTGGTGGG	0.657																																						uc001cgz.3		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(5665-5667)GCA>ACA		human immunodeficiency virus type I enhancer							26.0	31.0	30.0					1																	41979227		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:41979227C>T	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.5665G>A	1.37:g.41979227C>T	ENSP00000361664:p.Ala1889Thr					HIVEP3_uc001cha.3_Missense_Mutation_p.A1889T|HIVEP3_uc001cgy.2_RNA	p.A1889T	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			8	6878	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1889					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.5665G>A	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	0.799	-0.756207	0.03019	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.06142	3.35;3.34;3.34;3.35	5.0	-3.93	0.04143	.	1.094490	0.07164	N	0.851186	T	0.01730	0.0055	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41910	-0.9482	10	0.06236	T	0.91	6.6258	2.1221	0.03728	0.1104:0.1747:0.1129:0.6019	.	1889;1889	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	T	1889	ENSP00000361665:A1889T;ENSP00000361664:A1889T;ENSP00000247584:A1889T;ENSP00000410828:A1889T	ENSP00000247584:A1889T	A	-	1	0	HIVEP3	41751814	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.188000	0.03064	-1.151000	0.02836	-0.793000	0.03317	GCA		0.657	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		9	27	0	0	0	0	9	27				
CCDC24	149473	broad.mit.edu	37	1	44461731	44461731	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:44461731C>G	ENST00000372318.3	+	9	994	c.823C>G	c.(823-825)Cag>Gag	p.Q275E	SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000372306.3_Intron|CCDC24_ENST00000479055.1_3'UTR	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	275										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				ACCTCGAGGCCAGTCGGCTAC	0.682																																						uc001clj.2		NA																	0					0						c.(823-825)CAG>GAG		coiled-coil domain containing 24							42.0	46.0	45.0					1																	44461731		2203	4300	6503	SO:0001583	missense	149473							g.chr1:44461731C>G		CCDS507.1	1p34.1	2008-02-05			ENSG00000159214	ENSG00000159214			28688	protein-coding gene	gene with protein product						12477932	Standard	NM_152499		Approved	MGC45441	uc001clj.3	Q8N4L8	OTTHUMG00000008299	ENST00000372318.3:c.823C>G	1.37:g.44461731C>G	ENSP00000361392:p.Gln275Glu					SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|CCDC24_uc001clk.2_Silent_p.A228A|CCDC24_uc009vxc.2_Missense_Mutation_p.Q239E	p.Q275E	NM_152499	NP_689712	Q8N4L8	CCD24_HUMAN			9	994	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	275					Q6RWT2	Missense_Mutation	SNP	ENST00000372318.3	37	c.823C>G	CCDS507.1	.	.	.	.	.	.	.	.	.	.	C	5.808	0.333438	0.11013	.	.	ENSG00000159214	ENST00000372318	.	.	.	4.62	1.15	0.20763	.	1.352490	0.05617	N	0.579131	T	0.28764	0.0713	N	0.24115	0.695	0.09310	N	1	B;B	0.27732	0.187;0.187	B;B	0.24701	0.055;0.055	T	0.25257	-1.0137	9	0.33141	T	0.24	-11.1075	7.2787	0.26300	0.0:0.6349:0.0:0.3651	.	239;275	Q8N4L8-2;Q8N4L8	.;CCD24_HUMAN	E	275	.	ENSP00000361392:Q275E	Q	+	1	0	CCDC24	44234318	0.000000	0.05858	0.003000	0.11579	0.048000	0.14542	0.845000	0.27668	0.498000	0.27948	0.514000	0.50259	CAG		0.682	CCDC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022865.1	NM_152499		22	51	0	0	0	0	22	51				
OSBPL9	114883	broad.mit.edu	37	1	52249590	52249590	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:52249590C>T	ENST00000428468.1	+	18	1519	c.1517C>T	c.(1516-1518)tCa>tTa	p.S506L	OSBPL9_ENST00000447887.1_Missense_Mutation_p.S516L|OSBPL9_ENST00000531828.1_Missense_Mutation_p.S341L|OSBPL9_ENST00000462759.1_Missense_Mutation_p.S328L|OSBPL9_ENST00000337809.4_Missense_Mutation_p.S511L|OSBPL9_ENST00000361556.5_Missense_Mutation_p.S396L|OSBPL9_ENST00000371714.1_Missense_Mutation_p.S493L|OSBPL9_ENST00000530544.1_Missense_Mutation_p.S425L|OSBPL9_ENST00000435686.2_Missense_Mutation_p.S341L|OSBPL9_ENST00000453295.1_Missense_Mutation_p.S489L|OSBPL9_ENST00000486942.1_Missense_Mutation_p.S328L|OSBPL9_ENST00000371710.3_Missense_Mutation_p.S524L			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	506					lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						TATTCAGTTTCAGCCTTTTAT	0.363																																						uc001cst.2		NA																	0				central_nervous_system(1)	1						c.(1516-1518)TCA>TTA		oxysterol binding protein-like 9 isoform e							73.0	75.0	74.0					1																	52249590		2203	4300	6503	SO:0001583	missense	114883				lipid transport		lipid binding	g.chr1:52249590C>T	AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.1517C>T	1.37:g.52249590C>T	ENSP00000407168:p.Ser506Leu					OSBPL9_uc001css.2_Missense_Mutation_p.S511L|OSBPL9_uc001csx.2_RNA|OSBPL9_uc009vza.2_Missense_Mutation_p.S507L|OSBPL9_uc001csu.2_Missense_Mutation_p.S516L|OSBPL9_uc001csv.2_Missense_Mutation_p.S341L|OSBPL9_uc001csw.2_Missense_Mutation_p.S493L|OSBPL9_uc001csy.2_Missense_Mutation_p.S328L|OSBPL9_uc001csz.2_Missense_Mutation_p.S328L|OSBPL9_uc001cta.2_Missense_Mutation_p.S396L|OSBPL9_uc001ctb.2_Missense_Mutation_p.S291L	p.S506L	NM_024586	NP_078862	Q96SU4	OSBL9_HUMAN			18	1536	+			506					B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	ENST00000428468.1	37	c.1517C>T	CCDS41332.3	.	.	.	.	.	.	.	.	.	.	C	29.4	5.000400	0.93227	.	.	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000435686;ENST00000428468;ENST00000453295;ENST00000530544;ENST00000531828;ENST00000361556;ENST00000462759;ENST00000486942	T;T;T;T;T;T;T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22	5.24	5.24	0.73138	Oxysterol-binding protein, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.73931	0.3650	H	0.96996	3.92	0.80722	D	1	D;D;D;D;D	0.71674	0.994;0.998;0.997;0.994;0.998	D;D;D;D;D	0.75020	0.985;0.982;0.973;0.973;0.965	T	0.83351	-0.0003	10	0.87932	D	0	-12.3674	19.0133	0.92882	0.0:1.0:0.0:0.0	.	489;396;522;506;511	Q86YQ3;Q96SU4-3;B1AKJ7;Q96SU4;B1AKJ6	.;.;.;OSBL9_HUMAN;.	L	493;524;511;516;341;506;489;425;341;396;328;328	ENSP00000360779:S493L;ENSP00000360775:S524L;ENSP00000337265:S511L;ENSP00000412733:S516L;ENSP00000402646:S341L;ENSP00000407168:S506L;ENSP00000413263:S489L;ENSP00000433675:S425L;ENSP00000433083:S341L;ENSP00000354970:S396L;ENSP00000433279:S328L;ENSP00000431980:S328L	ENSP00000337265:S511L	S	+	2	0	OSBPL9	52022178	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.576000	0.82467	2.729000	0.93468	0.555000	0.69702	TCA		0.363	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4			15	25	0	0	0	0	15	25				
MROH7	374977	broad.mit.edu	37	1	55167769	55167769	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:55167769G>C	ENST00000421030.2	+	20	3577	c.3292G>C	c.(3292-3294)Gag>Cag	p.E1098Q	MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.E1098Q|MROH7_ENST00000409996.1_Missense_Mutation_p.E666Q|MROH7_ENST00000454855.2_Missense_Mutation_p.E616Q	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	1098						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CCAGGCACGAGAGGTCGTGCG	0.607																																						uc010ooe.1		NA																	0					0						c.(3292-3294)GAG>CAG		hypothetical protein LOC374977							34.0	35.0	35.0					1																	55167769		2048	4199	6247	SO:0001583	missense	374977					integral to membrane	binding	g.chr1:55167769G>C	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.3292G>C	1.37:g.55167769G>C	ENSP00000396622:p.Glu1098Gln					C1orf175_uc001cxq.2_RNA|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Missense_Mutation_p.E616Q|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA|C1orf175_uc009vzr.1_Missense_Mutation_p.E300Q	p.E1098Q	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN			20	3616	+			1098			HEAT 3.		A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	ENST00000421030.2	37	c.3292G>C	CCDS41342.2	.	.	.	.	.	.	.	.	.	.	G	13.37	2.217485	0.39201	.	.	ENSG00000184313	ENST00000421030;ENST00000414867;ENST00000409996;ENST00000454855;ENST00000371287	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	4.99	4.99	0.66335	Armadillo-like helical (1);Armadillo-type fold (1);	0.301243	0.26314	N	0.025100	T	0.48960	0.1529	L	0.46741	1.465	0.30097	N	0.807802	D;P	0.71674	0.998;0.906	D;P	0.68943	0.961;0.602	T	0.39860	-0.9593	10	0.22109	T	0.4	-18.7742	13.647	0.62288	0.0:0.0:1.0:0.0	.	1098;1098	Q68CQ1;Q68CQ1-9	HEAT8_HUMAN;.	Q	1098;1127;666;616;167	ENSP00000396622:E1098Q;ENSP00000387048:E666Q;ENSP00000401130:E616Q;ENSP00000360336:E167Q	ENSP00000360336:E167Q	E	+	1	0	HEATR8	54940357	1.000000	0.71417	0.624000	0.29186	0.449000	0.32228	3.170000	0.50816	2.591000	0.87537	0.313000	0.20887	GAG		0.607	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		14	30	0	0	0	0	14	30				
PDE4B	5142	broad.mit.edu	37	1	66723334	66723334	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:66723334G>A	ENST00000329654.4	+	5	668	c.481G>A	c.(481-483)Ggc>Agc	p.G161S	PDE4B_ENST00000371048.3_3'UTR|PDE4B_ENST00000371049.3_Missense_Mutation_p.G161S|PDE4B_ENST00000423207.2_Missense_Mutation_p.G146S	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	161					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	CACCAGACACGGCGATGACTT	0.368																																						uc001dcn.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(481-483)GGC>AGC		phosphodiesterase 4B isoform 1	Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)						244.0	241.0	242.0					1																	66723334		2203	4300	6503	SO:0001583	missense	5142				signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr1:66723334G>A	L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.481G>A	1.37:g.66723334G>A	ENSP00000332116:p.Gly161Ser					PDE4B_uc009war.2_Missense_Mutation_p.G69S|PDE4B_uc001dco.2_Missense_Mutation_p.G161S|PDE4B_uc001dcp.2_Missense_Mutation_p.G146S	p.G161S	NM_001037341	NP_001032418	Q07343	PDE4B_HUMAN			5	672	+			161					A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	ENST00000329654.4	37	c.481G>A	CCDS632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.983834|3.983834	0.74474|0.74474	.|.	.|.	ENSG00000184588|ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049;ENST00000423207;ENST00000412480|ENST00000491340	T;T;T;T;T|.	0.81415|.	-0.54;-0.54;-0.54;-0.54;-1.49|.	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	0.099979|.	0.64402|.	D|.	0.000001|.	T|T	0.71187|0.71187	0.3310|0.3310	M|M	0.74467|0.74467	2.265|2.265	0.80722|0.80722	D|D	1|1	B;B;B|.	0.27229|.	0.172;0.107;0.051|.	B;B;B|.	0.24848|.	0.056;0.025;0.014|.	T|T	0.69989|0.69989	-0.4995|-0.4995	10|5	0.72032|.	D|.	0.01|.	.|.	17.9887|17.9887	0.89162|0.89162	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	146;151;161|.	Q07343-3;Q59GM8;Q07343|.	.;.;PDE4B_HUMAN|.	S|Q	161;161;161;146;69|2	ENSP00000332116:G161S;ENSP00000342637:G161S;ENSP00000360088:G161S;ENSP00000392947:G146S;ENSP00000397548:G69S|.	ENSP00000332116:G161S|.	G|R	+|+	1|2	0|0	PDE4B|PDE4B	66495922|66495922	1.000000|1.000000	0.71417|0.71417	0.963000|0.963000	0.40424|0.40424	0.888000|0.888000	0.51559|0.51559	8.721000|8.721000	0.91446|0.91446	2.788000|2.788000	0.95919|0.95919	0.650000|0.650000	0.86243|0.86243	GGC|CGG		0.368	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3	NM_002600		46	124	0	0	0	0	46	124				
FAM73A	374986	broad.mit.edu	37	1	78340631	78340631	+	Missense_Mutation	SNP	G	G	A	rs372915680		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:78340631G>A	ENST00000370791.3	+	16	1813	c.1781G>A	c.(1780-1782)cGc>cAc	p.R594H	FAM73A_ENST00000443751.2_Missense_Mutation_p.R557H	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	594						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		TTACTCATTCGCCGCACTGAG	0.423																																						uc001dhx.2		NA																	0				ovary(1)	1						c.(1780-1782)CGC>CAC		hypothetical protein LOC374986		G	HIS/ARG	0,4406		0,0,2203	104.0	91.0	95.0		1781	5.6	1.0	1		95	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM73A	NM_198549.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	594/633	78340631	1,13005	2203	4300	6503	SO:0001583	missense	374986					integral to membrane		g.chr1:78340631G>A		CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.1781G>A	1.37:g.78340631G>A	ENSP00000359827:p.Arg594His					FAM73A_uc010ork.1_Missense_Mutation_p.R595H|FAM73A_uc010orl.1_Missense_Mutation_p.R557H	p.R594H	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN		Colorectal(170;0.226)	16	1813	+			594					Q6MZG0	Missense_Mutation	SNP	ENST00000370791.3	37	c.1781G>A	CCDS681.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202467	0.79127	0.0	1.16E-4	ENSG00000180488	ENST00000370791;ENST00000443751	T;T	0.26518	1.73;1.73	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.48589	0.1508	M	0.78801	2.425	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.81914	0.917;0.995;0.995	T	0.51317	-0.8721	10	0.72032	D	0.01	-10.4541	19.6119	0.95610	0.0:0.0:1.0:0.0	.	557;595;594	F8W7S1;B7ZLZ8;Q8NAN2	.;.;FA73A_HUMAN	H	594;557	ENSP00000359827:R594H;ENSP00000393675:R557H	ENSP00000359827:R594H	R	+	2	0	FAM73A	78113219	1.000000	0.71417	0.993000	0.49108	0.311000	0.27955	9.096000	0.94182	2.648000	0.89879	0.563000	0.77884	CGC		0.423	FAM73A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026931.1	NM_198549		11	36	0	0	0	0	11	36				
GBP4	115361	broad.mit.edu	37	1	89651007	89651007	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:89651007A>G	ENST00000355754.6	-	11	1950	c.1853T>C	c.(1852-1854)aTg>aCg	p.M618T	GBP4_ENST00000471938.1_5'UTR	NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	618						cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		AGTGACAATCATTATGTTGCT	0.353																																						uc001dnb.2		NA																	0					0						c.(1852-1854)ATG>ACG		guanylate binding protein 4							130.0	115.0	120.0					1																	89651007		2203	4300	6503	SO:0001583	missense	115361					cytoplasm	GTP binding|GTPase activity	g.chr1:89651007A>G	AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.1853T>C	1.37:g.89651007A>G	ENSP00000359490:p.Met618Thr						p.M618T	NM_052941	NP_443173	Q96PP9	GBP4_HUMAN		all cancers(265;0.00723)|Epithelial(280;0.0291)	11	1969	-			618					B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	ENST00000355754.6	37	c.1853T>C	CCDS721.1	.	.	.	.	.	.	.	.	.	.	A	6.130	0.392182	0.11581	.	.	ENSG00000162654	ENST00000355754	T	0.56103	0.48	4.0	1.61	0.23674	.	1.930490	0.02816	N	0.124923	T	0.12305	0.0299	N	0.08118	0	0.09310	N	1	B	0.18310	0.027	B	0.08055	0.003	T	0.11036	-1.0604	10	0.42905	T	0.14	.	3.2778	0.06904	0.6856:0.0:0.112:0.2024	.	618	Q96PP9	GBP4_HUMAN	T	618	ENSP00000359490:M618T	ENSP00000359490:M618T	M	-	2	0	GBP4	89423595	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	1.547000	0.36190	0.145000	0.18977	0.524000	0.50904	ATG		0.353	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941		9	42	0	0	0	0	9	42				
CCDC181	57821	broad.mit.edu	37	1	169390628	169390628	+	Silent	SNP	T	T	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:169390628T>C	ENST00000367806.3	-	3	1193	c.1041A>G	c.(1039-1041)gaA>gaG	p.E347E	CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000545005.1_Silent_p.E347E|CCDC181_ENST00000367805.3_Silent_p.E347E	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	347						nucleus (GO:0005634)											CTCTCTTTTCTTCTAGTTGTT	0.353																																						uc001gga.1		NA																	0					0						c.(1039-1041)GAA>GAG		hypothetical protein LOC57821							58.0	55.0	56.0					1																	169390628		2203	4300	6503	SO:0001819	synonymous_variant	57821							g.chr1:169390628T>C	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.1041A>G	1.37:g.169390628T>C						C1orf114_uc001gfz.1_Silent_p.E347E|C1orf114_uc009wvq.1_Silent_p.E347E|C1orf114_uc001ggb.2_Silent_p.E347E|C1orf114_uc001ggc.1_Silent_p.E347E	p.E347E	NM_021179	NP_067002	Q5TID7	CA114_HUMAN			3	1209	-	all_hematologic(923;0.208)		347			Potential.		O60780|Q53FD5|Q5TID9|Q8TC48	Silent	SNP	ENST00000367806.3	37	c.1041A>G																																																																																					0.353	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		14	41	0	0	0	0	14	41				
NAV1	89796	broad.mit.edu	37	1	201750276	201750276	+	Missense_Mutation	SNP	G	G	A	rs143487790		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:201750276G>A	ENST00000367296.4	+	5	1922	c.1502G>A	c.(1501-1503)cGg>cAg	p.R501Q	NAV1_ENST00000367295.1_Missense_Mutation_p.R110Q|NAV1_ENST00000367300.3_Missense_Mutation_p.R501Q|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Missense_Mutation_p.R501Q|NAV1_ENST00000295624.6_Missense_Mutation_p.R501Q|NAV1_ENST00000367302.1_Missense_Mutation_p.R514Q	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	501					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TCTAAGTGGCGGAGGGAGCGG	0.542																																						uc001gwu.2		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(1501-1503)CGG>CAG		neuron navigator 1		G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	93.0	99.0	97.0		329,1502	5.8	1.0	1	dbSNP_134	97	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	NAV1	NM_001167738.1,NM_020443.4	43,43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	110/1484,501/1878	201750276	2,13004	2203	4300	6503	SO:0001583	missense	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201750276G>A	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.1502G>A	1.37:g.201750276G>A	ENSP00000356265:p.Arg501Gln					NAV1_uc001gwv.1_Missense_Mutation_p.R9Q|NAV1_uc001gww.1_Missense_Mutation_p.R110Q|NAV1_uc001gwx.2_Missense_Mutation_p.R110Q|NAV1_uc001gwy.1_5'Flank	p.R501Q	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN			5	1849	+			501					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	c.1502G>A	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	G	33	5.208027	0.95033	0.0	2.33E-4	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000391966;ENST00000367295	T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.63200	0.2491	L	0.60455	1.87	0.41193	D	0.986311	D;D;D;D	0.76494	0.997;0.973;0.999;0.991	P;P;D;P	0.71870	0.771;0.519;0.975;0.69	T	0.64241	-0.6454	10	0.87932	D	0	-26.4178	19.619	0.95647	0.0:0.0:1.0:0.0	.	110;501;9;501	Q8NEY1-5;Q8NEY1;A8MYI2;Q8NEY1-3	.;NAV1_HUMAN;.;.	Q	514;501;501;501;501;9;110	ENSP00000356271:R514Q;ENSP00000356265:R501Q;ENSP00000295624:R501Q;ENSP00000356266:R501Q;ENSP00000356269:R501Q;ENSP00000356264:R110Q	ENSP00000295624:R501Q	R	+	2	0	NAV1	200016899	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.706000	0.47135	2.717000	0.92951	0.655000	0.94253	CGG		0.542	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		31	69	0	0	0	0	31	69				
ESRRG	2104	broad.mit.edu	37	1	216680338	216680338	+	Silent	SNP	T	T	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:216680338T>C	ENST00000408911.3	-	7	1473	c.1320A>G	c.(1318-1320)ctA>ctG	p.L440L	ESRRG_ENST00000366937.1_Silent_p.L452L|ESRRG_ENST00000359162.2_Silent_p.L417L|ESRRG_ENST00000366940.2_Silent_p.L417L|ESRRG_ENST00000366938.2_Silent_p.L417L|ESRRG_ENST00000493603.1_Silent_p.L417L|ESRRG_ENST00000360012.3_Silent_p.L417L|ESRRG_ENST00000487276.1_Silent_p.L417L|ESRRG_ENST00000493748.1_Silent_p.L417L|ESRRG_ENST00000463665.1_Silent_p.L378L|ESRRG_ENST00000361525.3_Silent_p.L417L|ESRRG_ENST00000391890.3_Silent_p.L424L|ESRRG_ENST00000361395.2_Silent_p.L417L	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	440					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|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)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CTTTGCCTTCTAGTTTGATGT	0.493																																						uc001hkw.1		NA																	0				ovary(1)|kidney(1)	2						c.(1318-1320)CTA>CTG		estrogen-related receptor gamma isoform 1	Diethylstilbestrol(DB00255)						132.0	123.0	126.0					1																	216680338		2203	4300	6503	SO:0001819	synonymous_variant	2104				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216680338T>C	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.1320A>G	1.37:g.216680338T>C						ESRRG_uc001hky.1_Silent_p.L417L|ESRRG_uc009xdp.1_Silent_p.L417L|ESRRG_uc001hkz.1_Silent_p.L378L|ESRRG_uc010puc.1_Silent_p.L417L|ESRRG_uc001hla.1_Silent_p.L417L|ESRRG_uc001hlb.1_Silent_p.L417L|ESRRG_uc010pud.1_Silent_p.L248L|ESRRG_uc001hlc.1_Silent_p.L417L|ESRRG_uc001hld.1_Silent_p.L417L|ESRRG_uc001hkx.1_Silent_p.L452L|ESRRG_uc009xdo.1_Silent_p.L417L	p.L440L	NM_001438	NP_001429	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	7	1486	-			440					A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Silent	SNP	ENST00000408911.3	37	c.1320A>G	CCDS41468.1																																																																																				0.493	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		11	56	0	0	0	0	11	56				
CCDC185	164127	broad.mit.edu	37	1	223567884	223567884	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:223567884C>T	ENST00000366875.3	+	1	1170	c.1067C>T	c.(1066-1068)cCg>cTg	p.P356L		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		356								p.P356L(1)		breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		CAGGAGAGCCCGCGCCAGGAG	0.687																																						uc001hoa.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	central_nervous_system(1)|skin(1)	2						c.(1066-1068)CCG>CTG		hypothetical protein LOC164127							12.0	16.0	15.0					1																	223567884		2191	4288	6479	SO:0001583	missense	164127							g.chr1:223567884C>T																												ENST00000366875.3:c.1067C>T	1.37:g.223567884C>T	ENSP00000355840:p.Pro356Leu						p.P356L	NM_152610	NP_689823	Q8N715	CA065_HUMAN		GBM - Glioblastoma multiforme(131;0.0704)	1	1170	+			356					Q8N746|Q8NA93	Missense_Mutation	SNP	ENST00000366875.3	37	c.1067C>T	CCDS1537.1	.	.	.	.	.	.	.	.	.	.	C	1.799	-0.477609	0.04414	.	.	ENSG00000178395	ENST00000366875	T	0.19532	2.14	4.27	-4.2	0.03823	.	.	.	.	.	T	0.07052	0.0179	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33214	-0.9877	9	0.25106	T	0.35	.	0.6551	0.00833	0.3787:0.2702:0.1723:0.1789	.	356	Q8N715	CA065_HUMAN	L	356	ENSP00000355840:P356L	ENSP00000355840:P356L	P	+	2	0	C1orf65	221634507	0.000000	0.05858	0.001000	0.08648	0.214000	0.24535	-0.961000	0.03845	-0.862000	0.04089	-1.636000	0.00776	CCG		0.687	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1			6	11	0	0	0	0	6	11				
PLD5	200150	broad.mit.edu	37	1	242287898	242287898	+	Missense_Mutation	SNP	G	G	C	rs538505826	byFrequency	TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:242287898G>C	ENST00000536534.2	-	6	1046	c.805C>G	c.(805-807)Cta>Gta	p.L269V	PLD5_ENST00000427495.1_Missense_Mutation_p.L207V|PLD5_ENST00000442594.2_Missense_Mutation_p.L177V			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	269						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			GAACTATATAGAGCAAATATC	0.368																																						uc001hzn.1		NA																	0				ovary(6)	6						c.(805-807)CTA>GTA		RecName: Full=Inactive phospholipase D5;          Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc;							92.0	93.0	93.0					1																	242287898		2203	4300	6503	SO:0001583	missense	200150					integral to membrane	catalytic activity	g.chr1:242287898G>C	AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.805C>G	1.37:g.242287898G>C	ENSP00000440896:p.Leu269Val					PLD5_uc001hzl.3_Missense_Mutation_p.L207V|PLD5_uc001hzm.3_Missense_Mutation_p.L59V|PLD5_uc001hzo.1_Missense_Mutation_p.L177V	p.L269V			Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		6	932	-	Melanoma(84;0.242)		269					A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	c.805C>G	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	G	5.086	0.201551	0.09652	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.13901	2.55;2.55;2.55	5.61	3.28	0.37604	Phospholipase D/viral envelope (1);	0.081281	0.53938	D	0.000047	T	0.06280	0.0162	N	0.05124	-0.11	0.31316	N	0.686585	P;D;P	0.53619	0.649;0.961;0.617	B;B;B	0.43838	0.23;0.433;0.173	T	0.19031	-1.0318	10	0.17832	T	0.49	-9.8171	7.5141	0.27590	0.7296:0.0:0.2704:0.0	.	177;269;207	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	V	207;177;269	ENSP00000401285:L207V;ENSP00000414188:L177V;ENSP00000440896:L269V	ENSP00000401285:L207V	L	-	1	2	PLD5	240354521	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.227000	0.32576	0.406000	0.25560	-0.302000	0.09304	CTA		0.368	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666		7	25	0	0	0	0	7	25				
RET	5979	broad.mit.edu	37	10	43604533	43604533	+	Missense_Mutation	SNP	C	C	T	rs546866208	byFrequency	TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr10:43604533C>T	ENST00000355710.3	+	6	1350	c.1118C>T	c.(1117-1119)gCg>gTg	p.A373V	RET_ENST00000340058.5_Missense_Mutation_p.A373V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	373					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.A373V(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	ATGCAGCTGGCGGTGCTGGTC	0.622		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				C|||	4	0.000798722	0.0	0.0	5008	,	,		20426	0.0		0.0	False		,,,				2504	0.0041				Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	uc001jal.2		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	T|Mis|N|F	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma		1	Substitution - Missense(1)	p.A373A(1)	large_intestine(1)	thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451	GRCh37	CM065437	RET	M		c.(1117-1119)GCG>GTG		ret proto-oncogene isoform a	Sunitinib(DB01268)						78.0	70.0	73.0					10																	43604533		2203	4300	6503	SO:0001583	missense	5979	Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43604533C>T	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1118C>T	10.37:g.43604533C>T	ENSP00000347942:p.Ala373Val					RET_uc001jak.1_Missense_Mutation_p.A373V|RET_uc010qez.1_Missense_Mutation_p.A119V	p.A373V	NM_020975	NP_066124	P07949	RET_HUMAN			6	1308	+		Ovarian(717;0.0423)	373			Extracellular (Potential).		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.1118C>T	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	7.952	0.745142	0.15710	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;T	0.77877	-1.02;-1.13	5.17	0.288	0.15719	.	0.551162	0.20663	N	0.087995	T	0.63570	0.2522	L	0.51422	1.61	0.19300	N	0.99997	B;B;B	0.15141	0.007;0.007;0.012	B;B;B	0.11329	0.001;0.002;0.006	T	0.43475	-0.9389	10	0.25106	T	0.35	.	2.9989	0.06007	0.4385:0.3406:0.1291:0.0917	.	119;373;373	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	V	373	ENSP00000347942:A373V;ENSP00000344798:A373V	ENSP00000344798:A373V	A	+	2	0	RET	42924539	0.706000	0.27856	0.116000	0.21606	0.308000	0.27856	1.284000	0.33249	0.510000	0.28216	0.561000	0.74099	GCG		0.622	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		16	36	0	0	0	0	16	36				
CCAR1	55749	broad.mit.edu	37	10	70546361	70546361	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr10:70546361A>G	ENST00000265872.6	+	21	2911	c.2792A>G	c.(2791-2793)tAt>tGt	p.Y931C	CCAR1_ENST00000535016.1_Missense_Mutation_p.Y916C|CCAR1_ENST00000543719.1_Missense_Mutation_p.Y916C	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	931					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						GCTTTTGTTTATTTTGATCAA	0.313																																						uc001joo.2		NA																	0				ovary(6)|large_intestine(1)	7						c.(2791-2793)TAT>TGT		cell-cycle and apoptosis regulatory protein 1							83.0	83.0	83.0					10																	70546361		2203	4298	6501	SO:0001583	missense	55749				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	g.chr10:70546361A>G	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.2792A>G	10.37:g.70546361A>G	ENSP00000265872:p.Tyr931Cys					CCAR1_uc010qiz.1_Missense_Mutation_p.Y916C|CCAR1_uc010qjb.1_RNA	p.Y931C	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN			21	2911	+			931					A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	ENST00000265872.6	37	c.2792A>G	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.254439	0.80135	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539	T;T;T;T	0.00364	7.81;7.81;7.81;7.81	5.47	5.47	0.80525	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.00906	0.0030	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.76345	-0.2993	10	0.72032	D	0.01	-13.5873	15.8482	0.78907	1.0:0.0:0.0:0.0	.	931	Q8IX12	CCAR1_HUMAN	C	931;916;916;916	ENSP00000265872:Y931C;ENSP00000441820:Y916C;ENSP00000445254:Y916C;ENSP00000439252:Y916C	ENSP00000265872:Y931C	Y	+	2	0	CCAR1	70216367	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.873000	0.92357	2.190000	0.69967	0.533000	0.62120	TAT		0.313	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		16	31	0	0	0	0	16	31				
PKP3	11187	broad.mit.edu	37	11	399010	399010	+	Missense_Mutation	SNP	G	G	A	rs141688536	byFrequency	TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:399010G>A	ENST00000331563.2	+	5	1163	c.1087G>A	c.(1087-1089)Gtg>Atg	p.V363M		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	363					desmosome assembly (GO:0002159)|establishment of protein localization to plasma membrane (GO:0090002)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|desmosome (GO:0030057)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTTCAGGCCGTGCCTAGGCT	0.602													g|||	3	0.000599042	0.0023	0.0	5008	,	,		13829	0.0		0.0	False		,,,				2504	0.0					uc001lpc.2		NA																	0				skin(1)	1						c.(1087-1089)GTG>ATG		plakophilin 3			MET/VAL	8,4390	14.3+/-33.2	0,8,2191	100.0	86.0	91.0		1087	2.0	0.3	11	dbSNP_134	91	0,8584		0,0,4292	yes	missense	PKP3	NM_007183.2	21	0,8,6483	AA,AG,GG		0.0,0.1819,0.0616	benign	363/798	399010	8,12974	2199	4292	6491	SO:0001583	missense	11187				cell adhesion	desmosome|nucleus	binding	g.chr11:399010G>A	Z98265	CCDS7695.1	11p15	2013-02-14			ENSG00000184363	ENSG00000184363		"""Armadillo repeat containing"""	9025	protein-coding gene	gene with protein product		605561				10374265	Standard	XM_005252760		Approved		uc001lpc.3	Q9Y446	OTTHUMG00000119068	ENST00000331563.2:c.1087G>A	11.37:g.399010G>A	ENSP00000331678:p.Val363Met						p.V363M	NM_007183	NP_009114	Q9Y446	PKP3_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	1163	+		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	363			ARM 2.		F8J390|Q53EX8	Missense_Mutation	SNP	ENST00000331563.2	37	c.1087G>A	CCDS7695.1	.	.	.	.	.	.	.	.	.	.	g	8.139	0.784798	0.16189	0.001819	0.0	ENSG00000184363	ENST00000331563	T	0.75154	-0.91	3.99	2.04	0.26737	Armadillo-like helical (1);Armadillo-type fold (1);	0.235047	0.36066	N	0.002810	T	0.48205	0.1487	N	0.17082	0.46	0.36252	D	0.853982	P	0.44006	0.824	B	0.30943	0.122	T	0.57165	-0.7858	10	0.72032	D	0.01	-15.5724	5.9204	0.19078	0.461:0.0:0.539:0.0	.	363	Q9Y446	PKP3_HUMAN	M	363	ENSP00000331678:V363M	ENSP00000331678:V363M	V	+	1	0	PKP3	389010	0.646000	0.27295	0.316000	0.25252	0.190000	0.23558	1.064000	0.30579	0.820000	0.34516	-0.348000	0.07805	GTG		0.602	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239281.1	NM_007183		11	81	0	0	0	0	11	81				
LRRC56	115399	broad.mit.edu	37	11	552187	552187	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:552187T>A	ENST00000270115.7	+	12	1636	c.1136T>A	c.(1135-1137)tTc>tAc	p.F379Y		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	379										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCTCTGACTTCCTGGCCTTG	0.672																																						uc010qvz.1		NA																	0				skin(1)	1						c.(1135-1137)TTC>TAC		leucine rich repeat containing 56							41.0	44.0	43.0					11																	552187		2199	4300	6499	SO:0001583	missense	115399							g.chr11:552187T>A		CCDS7700.1	11p15.5	2005-10-18			ENSG00000161328	ENSG00000161328			25430	protein-coding gene	gene with protein product						12477932	Standard	NM_198075		Approved	FLJ00101, DKFZp761L1518	uc010qvz.2	Q8IYG6	OTTHUMG00000132003	ENST00000270115.7:c.1136T>A	11.37:g.552187T>A	ENSP00000270115:p.Phe379Tyr						p.F379Y	NM_198075	NP_932341	Q8IYG6	LRC56_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	12	1641	+		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	379					Q8N3Q4	Missense_Mutation	SNP	ENST00000270115.7	37	c.1136T>A	CCDS7700.1	.	.	.	.	.	.	.	.	.	.	T	11.96	1.794934	0.31777	.	.	ENSG00000161328	ENST00000270115	T	0.08102	3.13	4.38	0.64	0.17752	.	1.148030	0.06715	N	0.773889	T	0.04588	0.0125	N	0.14661	0.345	0.09310	N	1	B	0.30361	0.277	B	0.23018	0.043	T	0.43829	-0.9367	10	0.27785	T	0.31	-24.9339	5.7147	0.17954	0.0:0.0936:0.3273:0.5792	.	379	Q8IYG6	LRC56_HUMAN	Y	379	ENSP00000270115:F379Y	ENSP00000270115:F379Y	F	+	2	0	LRRC56	542187	0.000000	0.05858	0.028000	0.17463	0.016000	0.09150	-0.216000	0.09266	0.273000	0.22049	0.459000	0.35465	TTC		0.672	LRRC56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254969.1	NM_198075		17	56	0	0	0	0	17	56				
PHRF1	57661	broad.mit.edu	37	11	611692	611692	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:611692C>T	ENST00000264555.5	+	18	4993	c.4865C>T	c.(4864-4866)gCg>gTg	p.A1622V	PHRF1_ENST00000533464.1_Missense_Mutation_p.A1618V|PHRF1_ENST00000413872.2_Missense_Mutation_p.A1620V|PHRF1_ENST00000416188.2_Missense_Mutation_p.A1621V	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1622					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)	p.A1622G(1)|p.A1627G(1)		breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CTGGTGAAGGCGTACGTGGAC	0.602																																						uc001lqe.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(4864-4866)GCG>GTG		PHD and ring finger domains 1							59.0	66.0	64.0					11																	611692		2153	4271	6424	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:611692C>T	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.4865C>T	11.37:g.611692C>T	ENSP00000264555:p.Ala1622Val					PHRF1_uc010qwc.1_Missense_Mutation_p.A1621V|PHRF1_uc010qwd.1_Missense_Mutation_p.A1620V|PHRF1_uc010qwe.1_Missense_Mutation_p.A1618V|PHRF1_uc009yca.1_RNA	p.A1622V	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN			18	4996	+			1622					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.4865C>T		.	.	.	.	.	.	.	.	.	.	C	25.9	4.683904	0.88639	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	4.58	4.58	0.56647	.	0.000000	0.35805	N	0.002980	T	0.80711	0.4675	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.956;0.993;0.999;0.999	D	0.83985	0.0334	10	0.87932	D	0	-34.8944	18.2622	0.90039	0.0:1.0:0.0:0.0	.	1618;1620;1621;1622	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	V	1622;1620;1621;1618	ENSP00000264555:A1622V;ENSP00000388589:A1620V;ENSP00000410626:A1621V;ENSP00000431870:A1618V	ENSP00000264555:A1622V	A	+	2	0	PHRF1	601692	1.000000	0.71417	0.998000	0.56505	0.457000	0.32468	5.949000	0.70257	2.487000	0.83934	0.561000	0.74099	GCG		0.602	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		6	48	0	0	0	0	6	48				
DCHS1	8642	broad.mit.edu	37	11	6654065	6654065	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:6654065G>A	ENST00000299441.3	-	6	3089	c.2678C>T	c.(2677-2679)gCc>gTc	p.A893V	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	893	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCAGGAAAGGCAGGGGAGTT	0.582																																						uc001mem.1		NA																	0				ovary(3)|large_intestine(1)|pancreas(1)	5						c.(2677-2679)GCC>GTC		dachsous 1 precursor							180.0	153.0	162.0					11																	6654065		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6654065G>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.2678C>T	11.37:g.6654065G>A	ENSP00000299441:p.Ala893Val						p.A893V	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	6	3088	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	893			Cadherin 8.|Extracellular (Potential).		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.2678C>T	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	1.181	-0.638088	0.03557	.	.	ENSG00000166341	ENST00000299441	T	0.59083	0.29	4.84	3.92	0.45320	Cadherin (2);Cadherin-like (1);	0.143577	0.32301	N	0.006299	T	0.40767	0.1130	N	0.00471	-1.455	0.27490	N	0.952307	D	0.69078	0.997	D	0.70716	0.97	T	0.49881	-0.8892	10	0.11182	T	0.66	.	14.6122	0.68524	0.0:0.1467:0.8533:0.0	.	893	Q96JQ0	PCD16_HUMAN	V	893	ENSP00000299441:A893V	ENSP00000299441:A893V	A	-	2	0	DCHS1	6610641	0.554000	0.26522	1.000000	0.80357	0.603000	0.37013	1.868000	0.39509	1.381000	0.46364	-0.305000	0.09177	GCC		0.582	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		4	30	0	0	0	0	4	30				
SWAP70	23075	broad.mit.edu	37	11	9769601	9769601	+	Missense_Mutation	SNP	G	G	C	rs200767479		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:9769601G>C	ENST00000318950.6	+	10	1655	c.1552G>C	c.(1552-1554)Gag>Cag	p.E518Q	SWAP70_ENST00000447399.2_Missense_Mutation_p.E460Q	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	518					isotype switching (GO:0045190)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		TGAGCAGTACGAGGTAATGAG	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		19180	0.001		0.0	False		,,,				2504	0.0					uc001mhw.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1552-1554)GAG>CAG		SWAP-70 protein							67.0	64.0	65.0					11																	9769601		2201	4294	6495	SO:0001583	missense	23075					cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding	g.chr11:9769601G>C	AB014540	CCDS31426.1, CCDS73257.1	11p15	2013-01-10			ENSG00000133789	ENSG00000133789		"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	17070	protein-coding gene	gene with protein product		604762				9734811, 10681448	Standard	XM_005252829		Approved	KIAA0640, SWAP-70	uc001mhw.3	Q9UH65	OTTHUMG00000165865	ENST00000318950.6:c.1552G>C	11.37:g.9769601G>C	ENSP00000315630:p.Glu518Gln					SWAP70_uc001mhx.2_Missense_Mutation_p.E460Q	p.E518Q	NM_015055	NP_055870	Q9UH65	SWP70_HUMAN		all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)	10	1651	+			518			Potential.		D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	Missense_Mutation	SNP	ENST00000318950.6	37	c.1552G>C	CCDS31426.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	5.528	0.282310	0.10458	.	.	ENSG00000133789	ENST00000447399;ENST00000318950	T;T	0.18657	2.2;2.2	5.72	5.72	0.89469	.	0.053550	0.85682	D	0.000000	T	0.12347	0.0300	N	0.12182	0.205	0.36360	D	0.860612	B;B	0.23128	0.08;0.026	B;B	0.17722	0.019;0.009	T	0.21042	-1.0257	10	0.13470	T	0.59	-27.5876	15.3718	0.74570	0.0:0.1388:0.8611:0.0	.	460;518	E7EMB1;Q9UH65	.;SWP70_HUMAN	Q	460;518	ENSP00000399056:E460Q;ENSP00000315630:E518Q	ENSP00000315630:E518Q	E	+	1	0	SWAP70	9726177	1.000000	0.71417	0.999000	0.59377	0.354000	0.29330	3.462000	0.53042	2.703000	0.92315	0.650000	0.86243	GAG		0.438	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386766.2	NM_015055		15	44	0	0	0	0	15	44				
SAAL1	113174	broad.mit.edu	37	11	18113850	18113850	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:18113850C>A	ENST00000524803.1	-	4	404	c.355G>T	c.(355-357)Ggt>Tgt	p.G119C	SAAL1_ENST00000529318.1_Missense_Mutation_p.G119C|SAAL1_ENST00000300013.4_Missense_Mutation_p.G119C|SAAL1_ENST00000533851.1_5'UTR			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	119										breast(2)|large_intestine(5)|lung(8)	15						GCCATATTACCTAAAATTCCC	0.318																																						uc001mnq.2		NA																	0					0						c.(355-357)GGT>TGT		serum amyloid A-like 1							89.0	92.0	91.0					11																	18113850		2200	4293	6493	SO:0001583	missense	113174				acute-phase response	extracellular region	binding	g.chr11:18113850C>A	AK123457	CCDS31439.1	11p15.1	2005-10-28			ENSG00000166788	ENSG00000166788			25158	protein-coding gene	gene with protein product							Standard	NM_138421		Approved	FLJ41463	uc001mnq.3	Q96ER3	OTTHUMG00000166428	ENST00000524803.1:c.355G>T	11.37:g.18113850C>A	ENSP00000432487:p.Gly119Cys					SAAL1_uc001mnr.2_Missense_Mutation_p.G119C|SAAL1_uc001mns.2_RNA|SAAL1_uc009yhf.2_Missense_Mutation_p.G119C	p.G119C	NM_138421	NP_612430	Q96ER3	SAAL1_HUMAN			4	405	-			119					A6NH05	Missense_Mutation	SNP	ENST00000524803.1	37	c.355G>T	CCDS31439.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.801447	0.90538	.	.	ENSG00000166788	ENST00000524803;ENST00000300013;ENST00000531751;ENST00000529318;ENST00000530180	D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02	5.71	5.71	0.89125	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.93112	0.7807	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93136	0.6537	10	0.87932	D	0	-19.5525	20.2245	0.98337	0.0:1.0:0.0:0.0	.	119;119;119	E9PRZ1;G1UCX3;Q96ER3	.;.;SAAL1_HUMAN	C	119;119;8;119;119	ENSP00000432487:G119C;ENSP00000300013:G119C;ENSP00000436031:G8C;ENSP00000432216:G119C;ENSP00000431489:G119C	ENSP00000300013:G119C	G	-	1	0	SAAL1	18070426	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.808000	0.75206	2.861000	0.98227	0.650000	0.86243	GGT		0.318	SAAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389728.1	NM_138421		11	23	1	0	7.93e-07	1.25e-06	11	23				
GYLTL1B	120071	broad.mit.edu	37	11	45950253	45950253	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:45950253C>T	ENST00000531526.1	+	14	2134	c.2023C>T	c.(2023-2025)Cgc>Tgc	p.R675C	GYLTL1B_ENST00000401752.1_Missense_Mutation_p.R675C|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.R644C|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.R675C|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.R644C	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	675					muscle cell cellular homeostasis (GO:0046716)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		GGACATCTCCCGCTTCCGCTC	0.632																																						uc001nbv.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2023-2025)CGC>TGC		glycosyltransferase-like 1B							87.0	77.0	81.0					11																	45950253		2203	4299	6502	SO:0001583	missense	120071				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr11:45950253C>T		CCDS31473.1	11p11.12	2013-02-22			ENSG00000165905	ENSG00000165905		"""Glycosyltransferase family 8 domain containing"""	16522	protein-coding gene	gene with protein product		609709				15661757, 15958417	Standard	XM_005252785		Approved	PP5656, FLJ35207, LARGE2	uc001nbv.1	Q8N3Y3	OTTHUMG00000167037	ENST00000531526.1:c.2023C>T	11.37:g.45950253C>T	ENSP00000432869:p.Arg675Cys					GYLTL1B_uc001nbw.1_Missense_Mutation_p.R644C|GYLTL1B_uc001nbx.1_Missense_Mutation_p.R675C|GYLTL1B_uc001nby.1_Missense_Mutation_p.R358C|GYLTL1B_uc001nbz.1_Silent_p.P23P	p.R675C	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN		GBM - Glioblastoma multiforme(35;0.226)	14	2134	+			675			Lumenal (Potential).		A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	Missense_Mutation	SNP	ENST00000531526.1	37	c.2023C>T	CCDS31473.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.6|25.6	4.653562|4.653562	0.88056|0.88056	.|.	.|.	ENSG00000165905|ENSG00000165905	ENST00000531847|ENST00000529052;ENST00000531526;ENST00000401752;ENST00000325468;ENST00000536139	.|T;T;T;T;T	.|0.23147	.|1.92;1.92;1.92;1.92;1.92	5.64|5.64	3.58|3.58	0.41010|0.41010	.|.	.|0.056146	.|0.64402	.|D	.|0.000003	T|T	0.45657|0.45657	0.1353|0.1353	M|M	0.68593|0.68593	2.085|2.085	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.999;0.999	.|D;D;D	.|0.67725	.|0.953;0.953;0.935	T|T	0.45862|0.45862	-0.9232|-0.9232	6|10	0.87932|0.87932	D|D	0|0	-28.9909|-28.9909	12.9457|12.9457	0.58371|0.58371	0.3385:0.6615:0.0:0.0|0.3385:0.6615:0.0:0.0	.|.	.|644;644;675	.|B3KP69;E9PIZ2;Q8N3Y3	.|.;.;LARG2_HUMAN	L|C	36|644;675;675;675;644	.|ENSP00000431932:R644C;ENSP00000432869:R675C;ENSP00000385235:R675C;ENSP00000324570:R675C;ENSP00000445044:R644C	ENSP00000434325:P36L|ENSP00000324570:R675C	P|R	+|+	2|1	0|0	GYLTL1B|GYLTL1B	45906829|45906829	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	5.350000|5.350000	0.66016|0.66016	2.643000|2.643000	0.89663|0.89663	0.655000|0.655000	0.94253|0.94253	CCG|CGC		0.632	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392572.1	NM_152312		29	83	0	0	0	0	29	83				
CKAP5	9793	broad.mit.edu	37	11	46765612	46765612	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:46765612C>G	ENST00000529230.1	-	44	6106	c.6060G>C	c.(6058-6060)ttG>ttC	p.L2020F	CKAP5_ENST00000415402.1_Missense_Mutation_p.L2027F|CKAP5_ENST00000312055.5_Missense_Mutation_p.L1960F|CKAP5_ENST00000354558.3_Missense_Mutation_p.L1960F			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	2020					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GTCTTTTTTTCAAGTCGTCTA	0.493																																					Ovarian(4;85 273 2202 4844 13323)	uc001ndi.1		NA																	0				ovary(1)|skin(1)	2						c.(6058-6060)TTG>TTC		colonic and hepatic tumor over-expressed protein							88.0	80.0	83.0					11																	46765612		2201	4299	6500	SO:0001583	missense	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding	g.chr11:46765612C>G		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.6060G>C	11.37:g.46765612C>G	ENSP00000432768:p.Leu2020Phe					CKAP5_uc009ylg.1_Missense_Mutation_p.L1913F|CKAP5_uc001ndj.1_Missense_Mutation_p.L1960F|CKAP5_uc001ndh.1_Missense_Mutation_p.L949F	p.L2020F	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN			44	6170	-			2020					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	c.6060G>C	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236895	0.79800	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558	T;T;T;T	0.58940	0.44;0.43;0.3;0.3	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.75715	0.3887	M	0.66939	2.045	0.58432	D	0.999995	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.83275	0.983;0.996;0.991	T	0.74777	-0.3550	10	0.46703	T	0.11	-32.719	19.5008	0.95093	0.0:1.0:0.0:0.0	.	2027;1960;2020	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	F	2020;2027;1960;1960	ENSP00000432768:L2020F;ENSP00000395302:L2027F;ENSP00000310227:L1960F;ENSP00000346566:L1960F	ENSP00000310227:L1960F	L	-	3	2	CKAP5	46722188	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.594000	0.67557	2.620000	0.88729	0.655000	0.94253	TTG		0.493	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		24	65	0	0	0	0	24	65				
OR4C15	81309	broad.mit.edu	37	11	55322294	55322294	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:55322294T>A	ENST00000314644.2	+	1	512	c.512T>A	c.(511-513)aTg>aAg	p.M171K		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CTCACAGCCATGGCCTATGAT	0.498										HNSCC(20;0.049)																												uc010rig.1		NA																	0				ovary(1)|skin(1)	2						c.(511-513)ATG>AAG		olfactory receptor, family 4, subfamily C,							131.0	117.0	122.0					11																	55322294		2201	4296	6497	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322294T>A	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.512T>A	11.37:g.55322294T>A	ENSP00000324958:p.Met171Lys	HNSCC(20;0.049)					p.M171K	NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN			1	512	+			117			Helical; Name=3; (Potential).		Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.512T>A	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	T	19.39	3.819278	0.71028	.	.	ENSG00000181939	ENST00000314644	T	0.01159	5.25	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.10551	0.0258	H	0.99042	4.41	0.43457	D	0.995659	D	0.56968	0.978	P	0.55260	0.772	T	0.02184	-1.1199	9	0.87932	D	0	.	12.6919	0.56980	0.0:0.0:0.0:1.0	.	117	Q8NGM1	OR4CF_HUMAN	K	171	ENSP00000324958:M171K	ENSP00000324958:M171K	M	+	2	0	OR4C15	55078870	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	6.881000	0.75584	2.105000	0.64084	0.317000	0.21355	ATG		0.498	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		77	76	0	0	0	0	77	76				
OR9G4	283189	broad.mit.edu	37	11	56511135	56511135	+	Silent	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:56511135C>T	ENST00000302957.3	-	1	152	c.153G>A	c.(151-153)ttG>ttA	p.L51L		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ACAAGGTTATCAAATAGAGCA	0.413																																						uc010rjo.1		NA																	0				ovary(2)|skin(1)	3						c.(151-153)TTG>TTA		olfactory receptor, family 9, subfamily G,							89.0	83.0	85.0					11																	56511135		2201	4296	6497	SO:0001819	synonymous_variant	283189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56511135C>T	BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"""GPCR / Class A : Olfactory receptors"""	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.153G>A	11.37:g.56511135C>T							p.L51L	NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN			1	153	-			51			Helical; Name=1; (Potential).		Q6IF62|Q96RA9	Silent	SNP	ENST00000302957.3	37	c.153G>A	CCDS31537.1																																																																																				0.413	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284		15	48	0	0	0	0	15	48				
SLC43A1	8501	broad.mit.edu	37	11	57259321	57259321	+	Missense_Mutation	SNP	G	G	A	rs201650859		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:57259321G>A	ENST00000278426.3	-	9	1241	c.886C>T	c.(886-888)Cgc>Tgc	p.R296C	SLC43A1_ENST00000533515.1_5'UTR|SLC43A1_ENST00000528450.1_Missense_Mutation_p.R296C	NM_003627.5	NP_003618.1			solute carrier family 43 (amino acid system L transporter), member 1											breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						AGGCTCTTGCGTAAGGGGACA	0.607											OREG0020651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001nkk.2		NA																	0					0						c.(886-888)CGC>TGC		solute carrier family 43, member 1							39.0	40.0	40.0					11																	57259321		2201	4296	6497	SO:0001583	missense	8501				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity	g.chr11:57259321G>A	AF045584	CCDS7958.1	11q12.1	2013-07-17	2013-07-17	2003-09-12	ENSG00000149150	ENSG00000149150		"""Solute carriers"""	9225	protein-coding gene	gene with protein product		603733	"""prostate cancer overexpressed gene 1"""	POV1		9255310, 9722952	Standard	NM_003627		Approved	R00504, PB39	uc001nkk.3	O75387	OTTHUMG00000167030	ENST00000278426.3:c.886C>T	11.37:g.57259321G>A	ENSP00000278426:p.Arg296Cys		OREG0020651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1021	SLC43A1_uc001nkl.2_Missense_Mutation_p.R296C	p.R296C	NM_003627	NP_003618	O75387	LAT3_HUMAN			9	1004	-			296						Missense_Mutation	SNP	ENST00000278426.3	37	c.886C>T	CCDS7958.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096807	0.56075	.	.	ENSG00000149150	ENST00000278426;ENST00000528450	T;T	0.58210	0.35;0.35	5.65	4.72	0.59763	Major facilitator superfamily domain, general substrate transporter (1);	0.062822	0.64402	D	0.000006	T	0.50292	0.1607	M	0.61703	1.905	0.80722	D	1	B	0.24533	0.105	B	0.24155	0.051	T	0.47736	-0.9094	10	0.38643	T	0.18	-24.4935	13.0779	0.59097	0.0:0.0:0.8387:0.1613	.	296	O75387	LAT3_HUMAN	C	296	ENSP00000278426:R296C;ENSP00000435673:R296C	ENSP00000278426:R296C	R	-	1	0	SLC43A1	57015897	0.999000	0.42202	0.997000	0.53966	0.984000	0.73092	2.734000	0.47368	1.358000	0.45922	0.650000	0.86243	CGC		0.607	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392541.1	NM_003627		11	46	0	0	0	0	11	46				
SMTNL1	219537	broad.mit.edu	37	11	57310254	57310254	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:57310254C>T	ENST00000399154.2	+	1	139	c.139C>T	c.(139-141)Ccc>Tcc	p.P47S	SMTNL1_ENST00000527972.1_Missense_Mutation_p.P47S|SMTNL1_ENST00000457912.1_Missense_Mutation_p.P65S			A8MU46	SMTL1_HUMAN	smoothelin-like 1	47	Glu-rich.				negative regulation of vasodilation (GO:0045908)|positive regulation of vasoconstriction (GO:0045907)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						TGAGGGGCCTCCCACTGAGTC	0.577																																						uc009ymh.1		NA																	0				ovary(1)	1						c.(193-195)CCC>TCC		smoothelin-like 1							42.0	48.0	46.0					11																	57310254		1987	4164	6151	SO:0001583	missense	219537							g.chr11:57310254C>T	BX116227		11q12.1	2006-02-02				ENSG00000214872			32394	protein-coding gene	gene with protein product	"""calponin homology-associated smooth muscle protein"""	613664				15327999	Standard	NM_001105565		Approved	CHASM	uc021qjh.1	A8MU46		ENST00000399154.2:c.139C>T	11.37:g.57310254C>T	ENSP00000382108:p.Pro47Ser						p.P65S	NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN			2	193	+			47						Missense_Mutation	SNP	ENST00000399154.2	37	c.193C>T		.	.	.	.	.	.	.	.	.	.	C	11.63	1.695893	0.30052	.	.	ENSG00000214872	ENST00000457912;ENST00000527972;ENST00000399154	D;D;D	0.93953	-3.32;-3.28;-3.32	4.84	3.91	0.45181	.	1.034700	0.07802	N	0.956742	D	0.88206	0.6374	N	0.19112	0.55	0.09310	N	1	B	0.27997	0.197	B	0.28638	0.092	T	0.79286	-0.1866	10	0.52906	T	0.07	-2.8612	9.8351	0.40965	0.0:0.9025:0.0:0.0975	.	65	C9J621	.	S	65;47;47	ENSP00000406485:P65S;ENSP00000432651:P47S;ENSP00000382108:P47S	ENSP00000382108:P47S	P	+	1	0	SMTNL1	57066830	0.000000	0.05858	0.030000	0.17652	0.007000	0.05969	0.045000	0.14013	1.154000	0.42482	0.655000	0.94253	CCC		0.577	SMTNL1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_166203		10	17	0	0	0	0	10	17				
OR5B3	441608	broad.mit.edu	37	11	58170743	58170743	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:58170743A>G	ENST00000309403.2	-	1	139	c.140T>C	c.(139-141)aTa>aCa	p.I47T		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATCCCAGAATATCAATACAAT	0.423																																						uc010rkf.1		NA																	0					0						c.(139-141)ATA>ACA		olfactory receptor, family 5, subfamily B,							88.0	87.0	88.0					11																	58170743		2201	4295	6496	SO:0001583	missense	441608				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58170743A>G	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"""GPCR / Class A : Olfactory receptors"""	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.140T>C	11.37:g.58170743A>G	ENSP00000308270:p.Ile47Thr						p.I47T	NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN			1	140	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	47			Cytoplasmic (Potential).		Q6IEV6	Missense_Mutation	SNP	ENST00000309403.2	37	c.140T>C	CCDS31549.1	.	.	.	.	.	.	.	.	.	.	a	6.416	0.444844	0.12164	.	.	ENSG00000172769	ENST00000309403	T	0.08458	3.09	4.19	3.05	0.35203	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43416	D	0.000567	T	0.12603	0.0306	L	0.60012	1.86	0.09310	N	1	D	0.53885	0.963	P	0.47705	0.555	T	0.06716	-1.0811	10	0.87932	D	0	-70.343	8.9539	0.35805	0.9082:0.0:0.0918:0.0	.	47	Q8NH48	OR5B3_HUMAN	T	47	ENSP00000308270:I47T	ENSP00000308270:I47T	I	-	2	0	OR5B3	57927319	0.023000	0.18921	0.007000	0.13788	0.000000	0.00434	3.036000	0.49767	0.761000	0.33130	-0.359000	0.07587	ATA		0.423	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469		3	101	0	0	0	0	3	101				
PLCB3	5331	broad.mit.edu	37	11	64033975	64033975	+	Missense_Mutation	SNP	C	C	G	rs575846795		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:64033975C>G	ENST00000540288.1	+	29	3468	c.3365C>G	c.(3364-3366)aCg>aGg	p.T1122R	PLCB3_ENST00000325234.5_Missense_Mutation_p.T1055R|PLCB3_ENST00000279230.6_Missense_Mutation_p.T1122R	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1122					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						AGGGAACTGACGGAGATTAAC	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		19041	0.0		0.0	False		,,,				2504	0.001					uc001nzb.2		NA																	0				ovary(1)|pancreas(1)	2						c.(3364-3366)ACG>AGG		phospholipase C beta 3							103.0	94.0	97.0					11																	64033975		2201	4297	6498	SO:0001583	missense	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64033975C>G	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.3365C>G	11.37:g.64033975C>G	ENSP00000443631:p.Thr1122Arg					PLCB3_uc009ypg.1_Missense_Mutation_p.T1122R|PLCB3_uc009yph.1_Missense_Mutation_p.T1055R|PLCB3_uc009ypi.2_Missense_Mutation_p.T1122R	p.T1122R	NM_000932	NP_000923	Q01970	PLCB3_HUMAN			29	3365	+			1122					A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	37	c.3365C>G	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	C	8.608	0.888438	0.17540	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.35421	1.31;1.31;1.31	4.83	3.87	0.44632	PLC-beta, C-terminal (1);	0.366938	0.29152	N	0.012997	T	0.46347	0.1388	L	0.53249	1.67	0.45718	D	0.998621	D;B	0.76494	0.999;0.448	D;B	0.65684	0.937;0.24	T	0.38222	-0.9671	10	0.02654	T	1	.	14.1436	0.65336	0.0:0.8493:0.1507:0.0	.	1055;1122	G5E960;Q01970	.;PLCB3_HUMAN	R	1122;1122;1055	ENSP00000279230:T1122R;ENSP00000443631:T1122R;ENSP00000324660:T1055R	ENSP00000279230:T1122R	T	+	2	0	PLCB3	63790551	0.956000	0.32656	0.989000	0.46669	0.970000	0.65996	2.132000	0.42083	2.523000	0.85059	0.555000	0.69702	ACG		0.652	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			8	49	0	0	0	0	8	49				
CCDC88B	283234	broad.mit.edu	37	11	64109596	64109596	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:64109596G>C	ENST00000356786.5	+	8	850	c.806G>C	c.(805-807)cGt>cCt	p.R269P	CCDC88B_ENST00000301897.4_5'Flank|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	269						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAGCTGCGGCGTCTGCGGCAG	0.682																																						uc001nzy.2		NA																	0				ovary(3)|skin(1)	4						c.(805-807)CGT>CCT		coiled-coil domain containing 88							11.0	13.0	13.0					11																	64109596		2197	4287	6484	SO:0001583	missense	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64109596G>C	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.806G>C	11.37:g.64109596G>C	ENSP00000349238:p.Arg269Pro					CCDC88B_uc009ypo.1_Missense_Mutation_p.R266P|CCDC88B_uc001nzz.1_5'Flank	p.R269P	NM_032251	NP_115627	A6NC98	CC88B_HUMAN			8	850	+			269			Potential.		A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	c.806G>C	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	.	18.91	3.723142	0.68959	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.48836	0.8	3.96	3.96	0.45880	.	.	.	.	.	T	0.51601	0.1684	M	0.72353	2.195	0.80722	D	1	P;P	0.43750	0.816;0.816	B;P	0.44696	0.333;0.458	T	0.59910	-0.7365	9	0.87932	D	0	.	11.8013	0.52128	0.0:0.0:1.0:0.0	.	269;269	B2RTU8;A6NC98	.;CC88B_HUMAN	P	269	ENSP00000349238:R269P	ENSP00000349238:R269P	R	+	2	0	CCDC88B	63866172	0.960000	0.32886	1.000000	0.80357	0.804000	0.45430	3.062000	0.49971	2.242000	0.73789	0.437000	0.28790	CGT		0.682	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		11	25	0	0	0	0	11	25				
KAT5	10524	broad.mit.edu	37	11	65486406	65486406	+	Missense_Mutation	SNP	A	A	C	rs200625753		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:65486406A>C	ENST00000377046.3	+	13	1660	c.1388A>C	c.(1387-1389)aAt>aCt	p.N463T	KAT5_ENST00000530446.1_Missense_Mutation_p.N444T|KAT5_ENST00000352980.4_Missense_Mutation_p.N411T|KAT5_ENST00000341318.4_Missense_Mutation_p.N496T|RNASEH2C_ENST00000308418.4_3'UTR|KAT5_ENST00000534650.1_Missense_Mutation_p.N252T	NM_006388.3	NP_006379.2	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	463	Interaction with ATF2.|MYST-type HAT.				androgen receptor signaling pathway (GO:0030521)|cellular response to estradiol stimulus (GO:0071392)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|double-strand break repair (GO:0006302)|histone acetylation (GO:0016573)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of growth (GO:0040008)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|repressing transcription factor binding (GO:0070491)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						CAGTACCTCAATCTCATCAAC	0.532																																						uc001ofi.2		NA																	0					0						c.(1387-1389)AAT>ACT		K(lysine) acetyltransferase 5 isoform 2							128.0	94.0	106.0					11																	65486406		2201	4297	6498	SO:0001583	missense	10524				androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity	g.chr11:65486406A>C	U74667	CCDS8109.1, CCDS8110.1, CCDS31610.1, CCDS55771.1	11q13	2013-01-10	2008-07-04	2008-07-04	ENSG00000172977	ENSG00000172977		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	5275	protein-coding gene	gene with protein product	"""Tat interacting protein, 60kDa"", ""K-acetyltransferase 5"""	601409	"""HIV-1 Tat interactive protein, 60kDa"""	HTATIP		8607265	Standard	NM_006388		Approved	TIP60, PLIP, cPLA2, HTATIP1, ESA1, ZC2HC5	uc001ofk.3	Q92993	OTTHUMG00000166617	ENST00000377046.3:c.1388A>C	11.37:g.65486406A>C	ENSP00000366245:p.Asn463Thr					KAT5_uc001ofj.2_Missense_Mutation_p.N411T|KAT5_uc001ofk.2_Missense_Mutation_p.N496T|KAT5_uc010roo.1_Missense_Mutation_p.N444T|KAT5_uc001ofl.2_Missense_Mutation_p.N252T|RNASEH2C_uc001ofm.2_RNA|RNASEH2C_uc001ofn.2_3'UTR	p.N463T	NM_006388	NP_006379	Q92993	KAT5_HUMAN			13	1638	+			463					B4E3C7|C9JL99|O95624|Q13430|Q17RW5|Q561W3|Q6GSE8|Q9BWK7	Missense_Mutation	SNP	ENST00000377046.3	37	c.1388A>C	CCDS31610.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.0|21.0	4.083563|4.083563	0.76642|0.76642	.|.	.|.	ENSG00000172977|ENSG00000172977	ENST00000533596|ENST00000377046;ENST00000352980;ENST00000341318;ENST00000530446;ENST00000534650	.|T;T;T;T	.|0.46451	.|0.88;0.9;0.87;0.89	4.74|4.74	4.74|4.74	0.60224|0.60224	.|Acyl-CoA N-acyltransferase (1);MOZ/SAS-like protein (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67192|0.67192	0.2867|0.2867	M|M	0.92923|0.92923	3.36|3.36	0.80722|0.80722	D|D	1|1	.|P;D;P;P	.|0.56035	.|0.921;0.974;0.903;0.768	.|P;P;P;P	.|0.59221	.|0.805;0.854;0.704;0.725	T|T	0.75844|0.75844	-0.3174|-0.3174	5|10	.|0.72032	.|D	.|0.01	-26.6421|-26.6421	12.2844|12.2844	0.54783|0.54783	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|444;496;411;463	.|B4E3C7;Q92993-3;Q92993-2;Q92993	.|.;.;.;KAT5_HUMAN	L|T	45|463;411;496;444;252	.|ENSP00000366245:N463T;ENSP00000344955:N411T;ENSP00000340330:N496T;ENSP00000434765:N444T	.|ENSP00000340330:N496T	I|N	+|+	1|2	0|0	KAT5|KAT5	65242982|65242982	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	8.511000|8.511000	0.90535|0.90535	2.005000|2.005000	0.58758|0.58758	0.454000|0.454000	0.30748|0.30748	ATC|AAT		0.532	KAT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390866.2	NM_006388		11	36	0	0	0	0	11	36				
AP5B1	91056	broad.mit.edu	37	11	65547050	65547050	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:65547050G>A	ENST00000532090.2	-	2	1124	c.914C>T	c.(913-915)cCg>cTg	p.P305L		NM_138368.4	NP_612377.4	Q2VPB7	AP5B1_HUMAN	adaptor-related protein complex 5, beta 1 subunit	305	Leu-rich.				endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|lysosomal membrane (GO:0005765)				lung(1)	1						GAAGAGTGCCGGTGGCTGTCC	0.647																																						uc001ofo.3		NA																	0					0						c.(742-744)CCG>CTG		hypothetical protein LOC91056							11.0	15.0	13.0					11																	65547050		2040	4168	6208	SO:0001583	missense	91056						protein binding	g.chr11:65547050G>A	JQ313135	CCDS58146.1	11q13.1	2012-02-29			ENSG00000254470	ENSG00000254470			25104	protein-coding gene	gene with protein product		614367				22022230	Standard	NM_138368		Approved	PP1030, AP-5, DKFZp761E198	uc031qbm.1	Q2VPB7	OTTHUMG00000166593	ENST00000532090.2:c.914C>T	11.37:g.65547050G>A	ENSP00000454303:p.Pro305Leu						p.P248L	NM_138368	NP_612377	Q2VPB7	YK046_HUMAN		READ - Rectum adenocarcinoma(159;0.167)	1	773	-			248			Leu-rich.		A1L0S6|H6WUK2|Q0D2Q2|Q8N3J7|Q8WYH6	Missense_Mutation	SNP	ENST00000532090.2	37	c.743C>T	CCDS58146.1																																																																																				0.647	AP5B1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390636.2	NM_138368		5	24	0	0	0	0	5	24				
AP5B1	91056	broad.mit.edu	37	11	65547195	65547195	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:65547195G>A	ENST00000532090.2	-	2	979	c.769C>T	c.(769-771)Cga>Tga	p.R257*		NM_138368.4	NP_612377.4	Q2VPB7	AP5B1_HUMAN	adaptor-related protein complex 5, beta 1 subunit	257	Leu-rich.				endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|lysosomal membrane (GO:0005765)				lung(1)	1						CTGTGCTCTCGTGCTGTAAGG	0.667																																						uc001ofo.3		NA																	0					0						c.(598-600)CGA>TGA		hypothetical protein LOC91056							43.0	54.0	50.0					11																	65547195		2116	4217	6333	SO:0001587	stop_gained	91056						protein binding	g.chr11:65547195G>A	JQ313135	CCDS58146.1	11q13.1	2012-02-29			ENSG00000254470	ENSG00000254470			25104	protein-coding gene	gene with protein product		614367				22022230	Standard	NM_138368		Approved	PP1030, AP-5, DKFZp761E198	uc031qbm.1	Q2VPB7	OTTHUMG00000166593	ENST00000532090.2:c.769C>T	11.37:g.65547195G>A	ENSP00000454303:p.Arg257*						p.R200*	NM_138368	NP_612377	Q2VPB7	YK046_HUMAN		READ - Rectum adenocarcinoma(159;0.167)	1	628	-			200			Leu-rich.		A1L0S6|H6WUK2|Q0D2Q2|Q8N3J7|Q8WYH6	Nonsense_Mutation	SNP	ENST00000532090.2	37	c.598C>T	CCDS58146.1																																																																																				0.667	AP5B1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390636.2	NM_138368		8	108	0	0	0	0	8	108				
ADRBK1	156	broad.mit.edu	37	11	67048572	67048572	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:67048572G>C	ENST00000308595.5	+	8	854	c.564G>C	c.(562-564)atG>atC	p.M188I	ADRBK1_ENST00000526285.1_Missense_Mutation_p.M188I	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	188	N-terminal.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	AGCTGACCATGAATGACTTCA	0.662																																						uc009yrn.1		NA																	0				large_intestine(1)	1						c.(562-564)ATG>ATC		beta-adrenergic receptor kinase 1	Adenosine triphosphate(DB00171)						58.0	58.0	58.0					11																	67048572		2200	4295	6495	SO:0001583	missense	156				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr11:67048572G>C	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.564G>C	11.37:g.67048572G>C	ENSP00000312262:p.Met188Ile					ADRBK1_uc009yrm.1_Missense_Mutation_p.M188I	p.M188I	NM_001619	NP_001610	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		8	830	+			188			N-terminal.		B0ZBE1|Q13837|Q6GTT3	Missense_Mutation	SNP	ENST00000308595.5	37	c.564G>C	CCDS8156.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.416088	0.62511	.	.	ENSG00000173020	ENST00000308595;ENST00000526285	T;T	0.22945	1.93;1.93	5.09	5.09	0.68999	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.15652	0.0377	N	0.05177	-0.1	0.58432	D	0.999999	B;B	0.25206	0.021;0.12	B;B	0.21360	0.019;0.034	T	0.08066	-1.0740	10	0.39692	T	0.17	-11.8322	18.8813	0.92357	0.0:0.0:1.0:0.0	.	188;188	P25098;E9PRV7	ARBK1_HUMAN;.	I	188	ENSP00000312262:M188I;ENSP00000434126:M188I	ENSP00000312262:M188I	M	+	3	0	ADRBK1	66805148	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	8.959000	0.93110	2.541000	0.85698	0.655000	0.94253	ATG		0.662	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	NM_001619		22	64	0	0	0	0	22	64				
C11orf30	56946	broad.mit.edu	37	11	76255467	76255467	+	Silent	SNP	G	G	A	rs149047897		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:76255467G>A	ENST00000529032.1	+	18	2874	c.2874G>A	c.(2872-2874)ccG>ccA	p.P958P	C11orf30_ENST00000533248.1_Silent_p.P867P|C11orf30_ENST00000524490.1_Silent_p.P860P|C11orf30_ENST00000525038.1_Silent_p.P959P|C11orf30_ENST00000343878.3_Silent_p.P958P|C11orf30_ENST00000334736.3_Silent_p.P958P|C11orf30_ENST00000524767.1_Silent_p.P973P|C11orf30_ENST00000525919.1_Silent_p.P959P			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	958	Gln-rich.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GCCAGCCCCCGCTGGAACAGA	0.517													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17388	0.0		0.0	False		,,,				2504	0.0					uc001oxl.2		NA																	0				ovary(5)|skin(1)	6						c.(2872-2874)CCG>CCA		EMSY protein		G		3,4397	6.2+/-15.9	0,3,2197	81.0	79.0	80.0		2874	4.8	1.0	11	dbSNP_134	80	0,8584		0,0,4292	no	coding-synonymous	C11orf30	NM_020193.3		0,3,6489	AA,AG,GG		0.0,0.0682,0.0231		958/1323	76255467	3,12981	2200	4292	6492	SO:0001819	synonymous_variant	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76255467G>A	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.2874G>A	11.37:g.76255467G>A						C11orf30_uc001oxm.2_Silent_p.P860P|C11orf30_uc010rsb.1_Silent_p.P973P|C11orf30_uc010rsc.1_Silent_p.P959P|C11orf30_uc001oxn.2_Silent_p.P959P|C11orf30_uc010rsd.1_Silent_p.P867P|C11orf30_uc001oxo.1_Silent_p.P312P|C11orf30_uc010rse.1_Silent_p.P205P|C11orf30_uc001oxp.2_Silent_p.P58P	p.P958P	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN			19	3017	+			958			Gln-rich.		B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Silent	SNP	ENST00000529032.1	37	c.2874G>A	CCDS8244.1																																																																																				0.517	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		24	80	0	0	0	0	24	80				
ME3	10873	broad.mit.edu	37	11	86270821	86270821	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:86270821G>C	ENST00000393324.3	-	2	481	c.228C>G	c.(226-228)caC>caG	p.H76Q	ME3_ENST00000323418.6_Missense_Mutation_p.H14Q|ME3_ENST00000359636.2_Missense_Mutation_p.H76Q|ME3_ENST00000543262.1_Missense_Mutation_p.H76Q|RP11-317J19.1_ENST00000524610.1_RNA	NM_001014811.1	NP_001014811.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	76					aerobic respiration (GO:0009060)|malate metabolic process (GO:0006108)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|pyruvate metabolic process (GO:0006090)	mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)				GGATTAGGCCGTGGATTCCAA	0.522																																						uc001pbz.2		NA																	0				ovary(1)	1						c.(226-228)CAC>CAG		mitochondrial malic enzyme 3 precursor	NADH(DB00157)						115.0	111.0	113.0					11																	86270821		2202	4299	6501	SO:0001583	missense	10873				aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding	g.chr11:86270821G>C	X79440	CCDS8277.1	11q14.2	2012-09-20			ENSG00000151376	ENSG00000151376	1.1.1.40		6985	protein-coding gene	gene with protein product		604626				7818469	Standard	NM_001161586		Approved		uc001pbz.3	Q16798	OTTHUMG00000167217	ENST00000393324.3:c.228C>G	11.37:g.86270821G>C	ENSP00000376998:p.His76Gln					ME3_uc001pca.2_Missense_Mutation_p.H76Q|ME3_uc009yvk.2_Missense_Mutation_p.H76Q|ME3_uc010rtr.1_RNA	p.H76Q	NM_001014811	NP_001014811	Q16798	MAON_HUMAN			2	482	-		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)	76					B7Z6V0|Q8TBJ0	Missense_Mutation	SNP	ENST00000393324.3	37	c.228C>G	CCDS8277.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931894	0.52866	.	.	ENSG00000151376	ENST00000359636;ENST00000543262;ENST00000393324;ENST00000524826;ENST00000545395;ENST00000323418;ENST00000530335	T;T;T;T;T;T	0.54279	1.79;1.79;1.79;1.79;0.58;1.79	5.25	-6.25	0.02039	.	0.000000	0.85682	D	0.000000	T	0.62282	0.2415	M	0.68952	2.095	0.80722	D	1	D	0.67145	0.996	D	0.63597	0.916	T	0.69202	-0.5207	9	.	.	.	.	17.13	0.86724	0.3099:0.0:0.6901:0.0	.	76	Q16798	MAON_HUMAN	Q	76;76;76;76;14;14;76	ENSP00000352657:H76Q;ENSP00000440246:H76Q;ENSP00000376998:H76Q;ENSP00000431182:H76Q;ENSP00000315255:H14Q;ENSP00000434690:H76Q	.	H	-	3	2	ME3	85948469	0.008000	0.16893	0.900000	0.35374	0.781000	0.44180	-0.920000	0.04013	-1.173000	0.02758	-0.140000	0.14226	CAC		0.522	ME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393767.2			28	106	0	0	0	0	28	106				
MTMR2	8898	broad.mit.edu	37	11	95569429	95569429	+	Silent	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:95569429G>A	ENST00000346299.5	-	14	1993	c.1653C>T	c.(1651-1653)ttC>ttT	p.F551F	MTMR2_ENST00000352297.7_Silent_p.F479F|MTMR2_ENST00000393223.3_Silent_p.F479F|MTMR2_ENST00000409459.1_Silent_p.F479F	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	551	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GAGGATTAGTGAAGTCTTCCA	0.443																																						uc001pfu.2		NA																	0				pancreas(1)	1						c.(1651-1653)TTC>TTT		myotubularin-related protein 2 isoform 1							147.0	143.0	144.0					11																	95569429		2201	4298	6499	SO:0001819	synonymous_variant	8898					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:95569429G>A	U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.1653C>T	11.37:g.95569429G>A						MTMR2_uc001pfv.2_Silent_p.F479F|MTMR2_uc001pfs.2_Silent_p.F479F|MTMR2_uc001pft.2_Silent_p.F479F	p.F551F	NM_016156	NP_057240	Q13614	MTMR2_HUMAN			14	1906	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	551			Myotubularin phosphatase.		A6NN98|Q9UPS9	Silent	SNP	ENST00000346299.5	37	c.1653C>T	CCDS8305.1																																																																																				0.443	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332620.1	NM_016156		16	106	0	0	0	0	16	106				
DDI1	414301	broad.mit.edu	37	11	103908268	103908268	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:103908268C>A	ENST00000302259.3	+	1	961	c.718C>A	c.(718-720)Caa>Aaa	p.Q240K	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	240							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GAGTTTTGGACAAGTGACGAT	0.478																																						uc001phr.2		NA																	0				large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5						c.(718-720)CAA>AAA		DDI1, DNA-damage inducible 1, homolog 1							120.0	133.0	129.0					11																	103908268		2202	4299	6501	SO:0001583	missense	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103908268C>A		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.718C>A	11.37:g.103908268C>A	ENSP00000302805:p.Gln240Lys					PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	p.Q240K	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	961	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	240					Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	c.718C>A	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.153146	0.38021	.	.	ENSG00000170967	ENST00000302259	T	0.46063	0.88	5.12	4.2	0.49525	Peptidase aspartic (1);Peptidase aspartic, eukaryotic predicted (1);	0.000000	0.85682	D	0.000000	T	0.52901	0.1763	L	0.43152	1.355	0.42620	D	0.993343	D	0.76494	0.999	D	0.87578	0.998	T	0.47837	-0.9086	10	0.27785	T	0.31	-32.0407	12.0891	0.53715	0.0:0.9158:0.0:0.0842	.	240	Q8WTU0	DDI1_HUMAN	K	240	ENSP00000302805:Q240K	ENSP00000302805:Q240K	Q	+	1	0	DDI1	103413478	1.000000	0.71417	0.044000	0.18714	0.036000	0.12997	7.133000	0.77259	1.528000	0.49103	0.655000	0.94253	CAA		0.478	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		33	179	1	0	5.83e-16	9.67e-16	33	179				
GUCY1A2	2977	broad.mit.edu	37	11	106888551	106888551	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:106888551C>G	ENST00000526355.2	-	1	699	c.231G>C	c.(229-231)agG>agC	p.R77S	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.R77S|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.R77S	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	77					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	GCTGCACCCTCCTGGCCCcgg	0.806																																						uc001pjg.1		NA																	0				large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8						c.(229-231)AGG>AGC		guanylate cyclase 1, soluble, alpha 2							3.0	4.0	4.0					11																	106888551		1088	2454	3542	SO:0001583	missense	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106888551C>G	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.231G>C	11.37:g.106888551C>G	ENSP00000431245:p.Arg77Ser					GUCY1A2_uc010rvo.1_Missense_Mutation_p.R77S|GUCY1A2_uc009yxn.1_Missense_Mutation_p.R77S	p.R77S	NM_000855	NP_000846	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	1	621	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)	77					A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	c.231G>C	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	C	9.703	1.154946	0.21371	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.87334	-1.91;-2.24;-1.91	3.34	2.37	0.29283	.	.	.	.	.	T	0.79759	0.4501	L	0.38175	1.15	0.26977	N	0.965444	B;B;B	0.19200	0.02;0.034;0.008	B;B;B	0.19391	0.011;0.025;0.011	T	0.61946	-0.6958	9	0.15066	T	0.55	.	11.1805	0.48625	0.0:0.6132:0.3868:0.0	.	77;77;77	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	S	77	ENSP00000431245:R77S;ENSP00000282249:R77S;ENSP00000344874:R77S	ENSP00000282249:R77S	R	-	3	2	GUCY1A2	106393761	1.000000	0.71417	0.759000	0.31340	0.212000	0.24457	1.724000	0.38064	0.537000	0.28751	0.407000	0.27541	AGG		0.806	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			4	9	0	0	0	0	4	9				
DLAT	1737	broad.mit.edu	37	11	111899661	111899661	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:111899661C>G	ENST00000280346.6	+	4	1311	c.652C>G	c.(652-654)Cac>Gac	p.H218D	DLAT_ENST00000537636.1_Intron|DLAT_ENST00000393051.1_Missense_Mutation_p.H218D	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	218	Lipoyl-binding 2. {ECO:0000255|PROSITE- ProRule:PRU01066}.				cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		ATATCCCCCTCACATGCAGGT	0.517																																						uc001pmo.2		NA																	0					0						c.(652-654)CAC>GAC		dihydrolipoamide S-acetyltransferase precursor	NADH(DB00157)						84.0	77.0	79.0					11																	111899661		2201	4297	6498	SO:0001583	missense	1737				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding	g.chr11:111899661C>G	Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"""E2 component of pyruvate dehydrogenase complex"""	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.652C>G	11.37:g.111899661C>G	ENSP00000280346:p.His218Asp					DLAT_uc009yyk.1_Missense_Mutation_p.H218D|DLAT_uc010rwr.1_Intron	p.H218D	NM_001931	NP_001922	P10515	ODP2_HUMAN		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	4	1311	+		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)	218					Q16783|Q53EP3	Missense_Mutation	SNP	ENST00000280346.6	37	c.652C>G	CCDS8354.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.684529	0.47991	.	.	ENSG00000150768	ENST00000280346;ENST00000534998;ENST00000393051	T;T	0.21932	1.98;2.52	5.55	5.55	0.83447	Single hybrid motif (1);	0.000000	0.85682	D	0.000000	T	0.47637	0.1456	M	0.69823	2.125	0.80722	D	1	D;P	0.55800	0.973;0.893	P;D	0.66716	0.599;0.946	T	0.35773	-0.9775	10	0.51188	T	0.08	-10.3239	19.4975	0.95079	0.0:1.0:0.0:0.0	.	218;218	E9PEJ4;P10515	.;ODP2_HUMAN	D	218;186;218	ENSP00000280346:H218D;ENSP00000376771:H218D	ENSP00000280346:H218D	H	+	1	0	DLAT	111404871	1.000000	0.71417	0.998000	0.56505	0.667000	0.39255	6.393000	0.73217	2.607000	0.88179	0.585000	0.79938	CAC		0.517	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	NM_001931		33	87	0	0	0	0	33	87				
HYOU1	10525	broad.mit.edu	37	11	118922623	118922623	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:118922623C>T	ENST00000404233.3	-	12	1370	c.1246G>A	c.(1246-1248)Gcc>Acc	p.A416T	HYOU1_ENST00000525859.1_Missense_Mutation_p.A416T|HYOU1_ENST00000529972.1_Missense_Mutation_p.A416T|HYOU1_ENST00000543287.1_Missense_Mutation_p.A329T	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	416					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)	p.A416T(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GCCCCCATGGCGGCTGCTTCA	0.582																																						uc001puu.2		NA																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(1246-1248)GCC>ACC		hypoxia up-regulated 1 precursor							77.0	76.0	76.0					11																	118922623		2200	4295	6495	SO:0001583	missense	10525					endoplasmic reticulum lumen	ATP binding|protein binding	g.chr11:118922623C>T	U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.1246G>A	11.37:g.118922623C>T	ENSP00000384144:p.Ala416Thr					HYOU1_uc001put.2_Missense_Mutation_p.A381T|HYOU1_uc010ryu.1_Missense_Mutation_p.A436T|HYOU1_uc010ryv.1_Missense_Mutation_p.A305T|HYOU1_uc001pux.3_Missense_Mutation_p.A416T|HYOU1_uc010ryw.1_RNA|HYOU1_uc001puw.1_Missense_Mutation_p.A416T	p.A416T	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)	12	1439	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)	416					A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	ENST00000404233.3	37	c.1246G>A	CCDS8408.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816749	0.70912	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000536103;ENST00000535579;ENST00000525859;ENST00000544701;ENST00000543287;ENST00000530473	T;T;T;T;T	0.01854	4.6;4.6;4.6;4.6;4.6	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.15305	0.0369	M	0.84585	2.705	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.992;0.98;0.992;0.992	T	0.00383	-1.1774	10	0.48119	T	0.1	-20.2164	18.7611	0.91851	0.0:1.0:0.0:0.0	.	407;460;416;416	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	T	416;407;416;416;265;416;459;329;416	ENSP00000384144:A416T;ENSP00000437313:A416T;ENSP00000433397:A416T;ENSP00000442727:A329T;ENSP00000431874:A416T	ENSP00000278752:A407T	A	-	1	0	HYOU1	118427833	1.000000	0.71417	0.779000	0.31741	0.466000	0.32739	5.537000	0.67186	2.735000	0.93741	0.655000	0.94253	GCC		0.582	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389353.1	NM_006389		56	47	0	0	0	0	56	47				
TUBA1B	10376	broad.mit.edu	37	12	49523424	49523424	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr12:49523424C>G	ENST00000336023.5	-	2	179	c.85G>C	c.(85-87)Ggc>Cgc	p.G29R	RP11-386G11.10_ENST00000548149.1_RNA|RP11-386G11.10_ENST00000551496.1_RNA|RP11-386G11.10_ENST00000547712.1_RNA|RP11-386G11.10_ENST00000552893.1_RNA|RP11-386G11.10_ENST00000547387.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	29					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						GGCTGGATGCCGTGTTCCAGG	0.577																																						uc001rtm.2		NA																	0					0						c.(85-87)GGC>CGC		tubulin, alpha, ubiquitous							80.0	73.0	75.0					12																	49523424		2203	4296	6499	SO:0001583	missense	10376				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding	g.chr12:49523424C>G	AF081484	CCDS31792.1	12q13.12	2007-02-12				ENSG00000123416		"""Tubulins"""	18809	protein-coding gene	gene with protein product	"""tubulin, alpha, ubiquitous"""	602530				12054644, 6646120	Standard	NM_006082		Approved	K-ALPHA-1	uc001rtm.3	P68363	OTTHUMG00000170410	ENST00000336023.5:c.85G>C	12.37:g.49523424C>G	ENSP00000336799:p.Gly29Arg					TUBA1B_uc001rto.2_Intron|TUBA1B_uc001rtk.2_5'UTR|TUBA1B_uc001rtl.2_5'UTR|TUBA1B_uc001rtn.2_5'UTR	p.G29R	NM_006082	NP_006073	P68363	TBA1B_HUMAN			2	306	-			29					P04687|P05209|Q27I68|Q8WU19	Missense_Mutation	SNP	ENST00000336023.5	37	c.85G>C	CCDS31792.1	.	.	.	.	.	.	.	.	.	.	c	15.29	2.789068	0.49997	.	.	ENSG00000123416	ENST00000336023;ENST00000551373;ENST00000429203;ENST00000550367	T;T	0.71222	-0.55;-0.55	4.95	4.06	0.47325	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.46145	U	0.000308	D	0.88869	0.6554	H	0.97491	4.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91405	0.5146	10	0.87932	D	0	.	12.2605	0.54647	0.0:0.9155:0.0:0.0845	.	29	P68363	TBA1B_HUMAN	R	29	ENSP00000336799:G29R;ENSP00000449325:G29R	ENSP00000336799:G29R	G	-	1	0	TUBA1B	47809691	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	7.747000	0.85070	1.079000	0.41038	0.655000	0.94253	GGC		0.577	TUBA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409005.1	NM_006082		13	88	0	0	0	0	13	88				
KRT1	3848	broad.mit.edu	37	12	53069099	53069099	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr12:53069099C>A	ENST00000252244.3	-	9	1871	c.1813G>T	c.(1813-1815)Ggc>Tgc	p.G605C		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	605	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CTCCCGCCGCCAGAGCCCCGg	0.692																																						uc001sau.1		NA																	0				ovary(1)|skin(1)	2						c.(1813-1815)GGC>TGC		keratin 1							16.0	24.0	21.0					12																	53069099		2121	4140	6261	SO:0001583	missense	3848				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	g.chr12:53069099C>A	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1813G>T	12.37:g.53069099C>A	ENSP00000252244:p.Gly605Cys					KRT1_uc001sav.1_Missense_Mutation_p.G598C	p.G605C	NM_006121	NP_006112	P04264	K2C1_HUMAN			9	1872	-			605			Gly/Ser-rich.|Tail.		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	ENST00000252244.3	37	c.1813G>T	CCDS8836.1	.	.	.	.	.	.	.	.	.	.	C	8.332	0.826807	0.16749	.	.	ENSG00000167768	ENST00000252244	D	0.87809	-2.3	3.93	1.57	0.23409	.	.	.	.	.	T	0.70185	0.3195	N	0.08118	0	0.09310	N	1	B	0.15930	0.015	B	0.09377	0.004	T	0.60337	-0.7283	9	0.66056	D	0.02	.	2.1921	0.03902	0.2371:0.3857:0.0:0.3772	.	605	P04264	K2C1_HUMAN	C	605	ENSP00000252244:G605C	ENSP00000252244:G605C	G	-	1	0	KRT1	51355366	0.015000	0.18098	0.012000	0.15200	0.458000	0.32498	1.647000	0.37260	0.776000	0.33473	0.313000	0.20887	GGC		0.692	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		7	53	1	0	2.23e-06	3.51e-06	7	53				
KRT4	3851	broad.mit.edu	37	12	53208022	53208022	+	Missense_Mutation	SNP	C	C	T	rs551387979		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr12:53208022C>T	ENST00000293774.4	-	1	313	c.43G>A	c.(43-45)Ggg>Agg	p.G15R	KRT4_ENST00000551956.1_5'UTR|KRT4_ENST00000458244.2_5'Flank			P19013	K2C4_HUMAN	keratin 4	0	Gly-rich.|Head.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CCATCCTTCCCGCACCCGTTG	0.527													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19471	0.0		0.0	False		,,,				2504	0.0				Pancreas(190;284 2995 41444 45903)	uc001saz.2		NA																	0				ovary(4)|skin(2)	6						c.(43-45)GGG>AGG		keratin 4							65.0	70.0	68.0					12																	53208022		1917	4122	6039	SO:0001583	missense	3851					keratin filament	structural molecule activity	g.chr12:53208022C>T		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000293774.4:c.43G>A	12.37:g.53208022C>T	ENSP00000293774:p.Gly15Arg						p.G15R	NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN			1	314	-			Error:Variant_position_missing_in_B4DRS2_after_alignment					F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	ENST00000293774.4	37	c.43G>A		.	.	.	.	.	.	.	.	.	.	C	9.219	1.032913	0.19590	.	.	ENSG00000170477	ENST00000293774	D	0.83992	-1.79	4.76	-5.36	0.02689	.	.	.	.	.	T	0.78635	0.4314	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.72421	-0.4299	6	0.52906	T	0.07	.	9.5037	0.39033	0.0991:0.2875:0.0:0.6134	.	.	.	.	R	15	ENSP00000293774:G15R	ENSP00000293774:G15R	G	-	1	0	KRT4	51494289	0.000000	0.05858	0.001000	0.08648	0.627000	0.37826	-1.144000	0.03197	-0.980000	0.03524	-0.181000	0.13052	GGG		0.527	KRT4-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002272		33	76	0	0	0	0	33	76				
PRIM1	5557	broad.mit.edu	37	12	57145981	57145981	+	Splice_Site	SNP	T	T	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr12:57145981T>A	ENST00000338193.6	-	1	138	c.102A>T	c.(100-102)ggA>ggT	p.G34G	HSD17B6_ENST00000555805.1_5'UTR|HSD17B6_ENST00000554643.1_5'Flank|HSD17B6_ENST00000555159.1_5'UTR|HSD17B6_ENST00000554150.1_5'Flank|PRIM1_ENST00000552408.1_5'Flank	NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN	primase, DNA, polypeptide 1 (49kDa)	34					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			kidney(1)|lung(6)|prostate(1)	8						CTCCATCACCTCCACCGTAGT	0.562																																						uc001smd.2		NA																	0					0						c.(100-102)GGA>GGT		DNA primase polypeptide 1							37.0	39.0	39.0					12																	57145981		1943	4143	6086	SO:0001630	splice_region_variant	5557				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	DNA primase activity|metal ion binding	g.chr12:57145981T>A	BC005266	CCDS44926.1	12q13.3	2007-06-19	2007-06-19			ENSG00000198056			9369	protein-coding gene	gene with protein product		176635				8530050	Standard	NM_000946		Approved		uc001smd.3	P49642	OTTHUMG00000170034	ENST00000338193.6:c.103+1A>T	12.37:g.57145981T>A						PRIM1_uc001sme.1_RNA|PRIM1_uc009zoz.1_RNA|PRIM1_uc001smf.2_Silent_p.G34G	p.G34G	NM_000946	NP_000937	P49642	PRI1_HUMAN			1	166	-			34						Silent	SNP	ENST00000338193.6	37	c.102A>T	CCDS44926.1																																																																																				0.562	PRIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406956.1	NM_000946	Silent	9	13	0	0	0	0	9	13				
PPFIA2	8499	broad.mit.edu	37	12	81657084	81657084	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr12:81657084C>A	ENST00000549396.1	-	31	3801	c.3641G>T	c.(3640-3642)gGg>gTg	p.G1214V	PPFIA2_ENST00000333447.7_Missense_Mutation_p.G1202V|PPFIA2_ENST00000541017.1_Missense_Mutation_p.G400V|PPFIA2_ENST00000541570.2_Missense_Mutation_p.G750V|PPFIA2_ENST00000550359.2_Missense_Mutation_p.G1061V|PPFIA2_ENST00000550584.2_Missense_Mutation_p.G1214V|PPFIA2_ENST00000443686.3_Missense_Mutation_p.G1109V|PPFIA2_ENST00000549325.1_Missense_Mutation_p.G1199V|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000552948.1_Missense_Mutation_p.G1193V|PPFIA2_ENST00000548586.1_Missense_Mutation_p.G1208V|PPFIA2_ENST00000407050.4_Missense_Mutation_p.G1113V	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1214					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TTCTGAGGACCCAGGCATCAT	0.453																																						uc001szo.1		NA																	0				ovary(3)|lung(2)|pancreas(1)	6						c.(3640-3642)GGG>GTG		PTPRF interacting protein alpha 2							127.0	121.0	123.0					12																	81657084		1966	4158	6124	SO:0001583	missense	8499							g.chr12:81657084C>A	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.3641G>T	12.37:g.81657084C>A	ENSP00000450337:p.Gly1214Val					PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	p.G1214V	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			31	3802	-			1113					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.3641G>T	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658872	0.67586	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	T;T;T;T;T;T;T;T;T	0.34472	2.1;2.1;1.81;1.36;1.79;2.11;2.1;1.77;2.12	5.14	5.14	0.70334	.	0.119417	0.56097	D	0.000033	T	0.47857	0.1468	L	0.54323	1.7	0.80722	D	1	D	0.56035	0.974	P	0.51135	0.66	T	0.51379	-0.8713	10	0.72032	D	0.01	-15.1855	18.5978	0.91235	0.0:1.0:0.0:0.0	.	1214	O75334	LIPA2_HUMAN	V	1214;1199;750;400;1113;1227;1202;1208;1109;1193	ENSP00000450337:G1214V;ENSP00000450298:G1199V;ENSP00000438337:G750V;ENSP00000445532:G400V;ENSP00000385093:G1113V;ENSP00000327416:G1202V;ENSP00000449338:G1208V;ENSP00000388373:G1109V;ENSP00000447868:G1193V	ENSP00000327416:G1202V	G	-	2	0	PPFIA2	80181215	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.004000	0.70709	2.404000	0.81709	0.585000	0.79938	GGG		0.453	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			11	27	1	0	3.86e-05	5.95e-05	11	27				
SLC25A3	5250	broad.mit.edu	37	12	98987826	98987826	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr12:98987826G>C	ENST00000228318.3	+	2	190	c.70G>C	c.(70-72)Gat>Cat	p.D24H	SLC25A3_ENST00000547534.1_Missense_Mutation_p.D24H|SLC25A3_ENST00000401722.3_Missense_Mutation_p.D24H|SLC25A3_ENST00000552981.1_Missense_Mutation_p.D24H|SLC25A3_ENST00000549338.1_Missense_Mutation_p.D24H|SLC25A3_ENST00000188376.5_Missense_Mutation_p.D24H|SLC25A3_ENST00000551917.1_Missense_Mutation_p.D24H|SLC25A3_ENST00000551265.1_Missense_Mutation_p.D24H|SLC25A3_ENST00000548847.1_Missense_Mutation_p.D24H	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	24					generation of precursor metabolites and energy (GO:0006091)|phosphate ion transmembrane transport (GO:0035435)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	phosphate ion carrier activity (GO:0015320)|protein complex binding (GO:0032403)|symporter activity (GO:0015293)			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		GCTGGTGCACGATGGTCTCGG	0.687																																						uc001tfo.2		NA																	0					0						c.(70-72)GAT>CAT		solute carrier family 25 member 3 isoform a							32.0	30.0	31.0					12																	98987826		2203	4300	6503	SO:0001583	missense	5250				generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity	g.chr12:98987826G>C		CCDS9065.1, CCDS9066.1	12q23.1	2013-05-22			ENSG00000075415	ENSG00000075415		"""Solute carriers"""	10989	protein-coding gene	gene with protein product		600370		PHC		8168843	Standard	NM_213611		Approved		uc001tfo.3	Q00325	OTTHUMG00000170212	ENST00000228318.3:c.70G>C	12.37:g.98987826G>C	ENSP00000228318:p.Asp24His					SLC25A3_uc001tfm.2_Missense_Mutation_p.D24H|SLC25A3_uc001tfn.2_Missense_Mutation_p.D24H|SLC25A3_uc001tfp.2_Missense_Mutation_p.D24H|SLC25A3_uc001tfq.2_5'UTR|SLC25A3_uc001tfr.2_Missense_Mutation_p.D24H|SLC25A3_uc001tfs.2_5'UTR|SLC25A3_uc009ztn.2_Missense_Mutation_p.D24H|SLC25A3_uc001tft.2_Missense_Mutation_p.D24H	p.D24H	NM_005888	NP_005879	Q00325	MPCP_HUMAN		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)	2	190	+		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)	24					B3KS34|Q7Z7N7|Q96A03	Missense_Mutation	SNP	ENST00000228318.3	37	c.70G>C	CCDS9066.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350689	0.82132	.	.	ENSG00000075415	ENST00000401722;ENST00000188376;ENST00000228318;ENST00000551917;ENST00000548046;ENST00000552981;ENST00000551265;ENST00000550695;ENST00000547534;ENST00000549338;ENST00000548847	T;T;T;T;D;T;D;D;T;T	0.86230	-1.1;-1.1;-0.85;-0.85;-2.09;-1.1;-2.06;-1.68;-1.1;-1.12	4.52	3.56	0.40772	.	0.209202	0.39146	N	0.001454	D	0.90817	0.7116	M	0.73962	2.25	0.46609	D	0.999125	D;B;P	0.52996	0.957;0.001;0.708	P;B;B	0.57324	0.818;0.004;0.393	D	0.91455	0.5184	10	0.66056	D	0.02	-17.3588	12.9834	0.58577	0.0:0.0:0.8393:0.1607	.	24;24;24	F8VVM2;Q00325;Q00325-2	.;MPCP_HUMAN;.	H	24	ENSP00000383898:D24H;ENSP00000188376:D24H;ENSP00000228318:D24H;ENSP00000447310:D24H;ENSP00000447339:D24H;ENSP00000448708:D24H;ENSP00000449479:D24H;ENSP00000449793:D24H;ENSP00000447740:D24H;ENSP00000449166:D24H	ENSP00000188376:D24H	D	+	1	0	SLC25A3	97511957	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	1.789000	0.38724	2.521000	0.84997	0.561000	0.74099	GAT		0.687	SLC25A3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407989.1	NM_005888		9	22	0	0	0	0	9	22				
ATXN2	6311	broad.mit.edu	37	12	111993687	111993687	+	Splice_Site	SNP	C	C	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr12:111993687C>A	ENST00000377617.3	-	2	929	c.768G>T	c.(766-768)acG>acT	p.T256T	ATXN2_ENST00000389153.4_5'UTR|ATXN2_ENST00000550104.1_Splice_Site_p.T256T|ATXN2_ENST00000608853.1_Splice_Site_p.T96T|ATXN2_ENST00000542287.2_5'UTR|ATXN2_ENST00000535949.1_Intron|ATXN2_ENST00000549455.1_Intron	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	256					cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						AGTTACTCACCGTAGACTGAG	0.328																																						uc001tsj.2		NA																	0				ovary(1)|breast(1)	2						c.(766-768)ACG>ACT		ataxin 2							100.0	95.0	96.0					12																	111993687		2202	4300	6502	SO:0001630	splice_region_variant	6311				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	g.chr12:111993687C>A	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.768+1G>T	12.37:g.111993687C>A						ATXN2_uc001tsh.2_5'UTR|ATXN2_uc001tsi.2_Intron|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsm.1_5'UTR	p.T256T	NM_002973	NP_002964	Q99700	ATX2_HUMAN			2	930	-			256					A6NLD4|Q6ZQZ7|Q99493	Silent	SNP	ENST00000377617.3	37	c.768G>T	CCDS31902.1																																																																																				0.328	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973	Silent	6	19	1	0	3.6e-05	5.57e-05	6	19				
SLC8B1	80024	broad.mit.edu	37	12	113744331	113744331	+	Silent	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr12:113744331C>G	ENST00000552014.1	-	15	1976	c.1461G>C	c.(1459-1461)gcG>gcC	p.A487A	SLC8B1_ENST00000202831.3_Silent_p.A487A|SLC8B1_ENST00000546737.1_Silent_p.A431A|SLC8B1_ENST00000553238.1_5'Flank|SLC8B1_ENST00000550047.1_Silent_p.A2A|SLC8B1_ENST00000549069.1_Silent_p.A46A			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	487					cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)										AGGCGGAGAACGCCATCCGTG	0.602																																						uc001tvc.2		NA																	0				central_nervous_system(1)	1						c.(1459-1461)GCG>GCC		solute carrier family 24 member 6 precursor							107.0	82.0	90.0					12																	113744331		2203	4300	6503	SO:0001819	synonymous_variant	80024				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity	g.chr12:113744331C>G	AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"""Solute carriers"""	26175	protein-coding gene	gene with protein product		609841	"""solute carrier family 24 (sodium/potassium/calcium exchanger), member 6"", ""solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"""	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.1461G>C	12.37:g.113744331C>G						SLC24A6_uc001tuz.2_Silent_p.A192A|SLC24A6_uc001tva.2_RNA|SLC24A6_uc001tvb.2_Silent_p.A225A	p.A487A	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN			14	1671	-			487			Extracellular (Potential).		A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Silent	SNP	ENST00000552014.1	37	c.1461G>C	CCDS31909.1																																																																																				0.602	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404830.3	NM_024959		3	38	0	0	0	0	3	38				
KSR2	283455	broad.mit.edu	37	12	117923489	117923489	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr12:117923489T>C	ENST00000339824.5	-	15	2954	c.2227A>G	c.(2227-2229)Aag>Gag	p.K743E	KSR2_ENST00000425217.1_Missense_Mutation_p.K714E|KSR2_ENST00000302438.5_3'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	743	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTCCGTCCCTTACAGAGGCTG	0.443																																						uc001two.2		NA																	0				lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15						c.(2140-2142)AAG>GAG		kinase suppressor of ras 2							97.0	90.0	92.0					12																	117923489		1919	4135	6054	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117923489T>C	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.2227A>G	12.37:g.117923489T>C	ENSP00000339952:p.Lys743Glu						p.K714E	NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN			15	2195	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		743			Protein kinase.		A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.2140A>G		.	.	.	.	.	.	.	.	.	.	T	29.3	4.994935	0.93167	.	.	ENSG00000171435	ENST00000425217;ENST00000339824	D;D	0.88046	-2.33;-2.33	5.75	5.75	0.90469	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.107611	0.64402	D	0.000006	D	0.89339	0.6687	L	0.28458	0.855	0.80722	D	1	D	0.67145	0.996	D	0.75484	0.986	D	0.88611	0.3156	10	0.34782	T	0.22	.	16.0707	0.80928	0.0:0.0:0.0:1.0	.	743	Q6VAB6	KSR2_HUMAN	E	714;743	ENSP00000389715:K714E;ENSP00000339952:K743E	ENSP00000339952:K743E	K	-	1	0	KSR2	116407872	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.984000	0.88150	2.194000	0.70268	0.533000	0.62120	AAG		0.443	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		11	48	0	0	0	0	11	48				
POSTN	10631	broad.mit.edu	37	13	38164592	38164592	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr13:38164592A>G	ENST00000379747.4	-	4	475	c.358T>C	c.(358-360)Tca>Cca	p.S120P	POSTN_ENST00000379742.4_Missense_Mutation_p.S120P|POSTN_ENST00000541179.1_Missense_Mutation_p.S120P|POSTN_ENST00000379749.4_Missense_Mutation_p.S120P|POSTN_ENST00000379743.4_Missense_Mutation_p.S120P|POSTN_ENST00000541481.1_Missense_Mutation_p.S120P	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	120	FAS1 1. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CTCAGTTTTGAGGCGTCAGAA	0.448																																						uc001uwo.3		NA																	0				ovary(2)	2						c.(358-360)TCA>CCA		periostin, osteoblast specific factor isoform 1							111.0	97.0	102.0					13																	38164592		2203	4300	6503	SO:0001583	missense	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38164592A>G	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.358T>C	13.37:g.38164592A>G	ENSP00000369071:p.Ser120Pro					POSTN_uc001uwp.3_Missense_Mutation_p.S120P|POSTN_uc001uwr.2_Missense_Mutation_p.S120P|POSTN_uc001uwq.2_Missense_Mutation_p.S120P|POSTN_uc010teu.1_Missense_Mutation_p.S120P|POSTN_uc010tev.1_Missense_Mutation_p.S120P|POSTN_uc010tew.1_Missense_Mutation_p.S120P|POSTN_uc010tex.1_Missense_Mutation_p.S35P	p.S120P	NM_006475	NP_006466	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	4	476	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	120			FAS1 1.		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.358T>C	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.038824	0.75617	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481;ENST00000538347	D;D;D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81;-2.81;-2.81	5.36	5.36	0.76844	FAS1 domain (4);	0.000000	0.85682	D	0.000000	D	0.95433	0.8517	M	0.82323	2.585	0.50467	D	0.999871	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.997;0.999;1.0	D;D;D;D;D;D;D	0.87578	0.998;0.997;0.992;0.997;0.991;0.974;0.992	D	0.95988	0.8983	10	0.72032	D	0.01	.	15.3597	0.74460	1.0:0.0:0.0:0.0	.	120;120;120;120;120;120;120	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	P	120;120;120;120;120;120;37	ENSP00000437959:S120P;ENSP00000369073:S120P;ENSP00000369071:S120P;ENSP00000369067:S120P;ENSP00000369066:S120P;ENSP00000437953:S120P	ENSP00000369066:S120P	S	-	1	0	POSTN	37062592	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	4.736000	0.62059	2.036000	0.60181	0.528000	0.53228	TCA		0.448	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		8	26	0	0	0	0	8	26				
VWA8	23078	broad.mit.edu	37	13	42393507	42393507	+	Silent	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr13:42393507G>A	ENST00000379310.3	-	15	1784	c.1716C>T	c.(1714-1716)atC>atT	p.I572I	VWA8_ENST00000281496.6_Silent_p.I572I	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	572						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										AGGAGGGATGGATAGGAAAAA	0.378																																						uc001uyj.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6						c.(1714-1716)ATC>ATT		hypothetical protein LOC23078 isoform a							56.0	59.0	58.0					13																	42393507		2203	4300	6503	SO:0001819	synonymous_variant	23078					extracellular region	ATP binding|ATPase activity	g.chr13:42393507G>A	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.1716C>T	13.37:g.42393507G>A						KIAA0564_uc001uyk.2_Silent_p.I572I	p.I572I	NM_015058	NP_055873	A3KMH1	K0564_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)	15	1786	-		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)	572					O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Silent	SNP	ENST00000379310.3	37	c.1716C>T	CCDS41881.1																																																																																				0.378	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		11	30	0	0	0	0	11	30				
PCDH8	5100	broad.mit.edu	37	13	53422221	53422221	+	Silent	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr13:53422221C>T	ENST00000377942.3	-	1	554	c.351G>A	c.(349-351)cgG>cgA	p.R117R	PCDH8_ENST00000338862.4_Silent_p.R117R	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	117	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CGTGCACCAGCCGGAACTGCT	0.706																																					GBM(36;25 841 9273 49207)	uc001vhi.2		NA																	0				breast(1)	1						c.(349-351)CGG>CGA		protocadherin 8 isoform 1 precursor							42.0	38.0	39.0					13																	53422221		2203	4298	6501	SO:0001819	synonymous_variant	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53422221C>T	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.351G>A	13.37:g.53422221C>T						PCDH8_uc001vhj.2_Silent_p.R117R	p.R117R	NM_002590	NP_002581	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	554	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	117			Extracellular (Potential).|Cadherin 1.		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Silent	SNP	ENST00000377942.3	37	c.351G>A	CCDS9438.1																																																																																				0.706	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		26	47	0	0	0	0	26	47				
PCDH9	5101	broad.mit.edu	37	13	67801103	67801103	+	Silent	SNP	A	A	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr13:67801103A>T	ENST00000377865.2	-	1	1604	c.1470T>A	c.(1468-1470)acT>acA	p.T490T	PCDH9_ENST00000377861.3_Silent_p.T490T|PCDH9_ENST00000328454.5_Silent_p.T490T|PCDH9_ENST00000456367.1_Silent_p.T490T|PCDH9_ENST00000544246.1_Silent_p.T490T			Q9HC56	PCDH9_HUMAN	protocadherin 9	490	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TGGCACTAATAGTTGTTAAGT	0.413																																						uc001vik.2		NA																	0				ovary(4)|pancreas(1)|skin(1)	6						c.(1468-1470)ACT>ACA		protocadherin 9 isoform 1 precursor							105.0	107.0	106.0					13																	67801103		2203	4300	6503	SO:0001819	synonymous_variant	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67801103A>T	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.1470T>A	13.37:g.67801103A>T						PCDH9_uc001vil.2_Silent_p.T490T|PCDH9_uc010thl.1_Silent_p.T490T|PCDH9_uc001vin.3_Silent_p.T490T	p.T490T	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	2162	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	490			Extracellular (Potential).|Cadherin 5.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Silent	SNP	ENST00000377865.2	37	c.1470T>A	CCDS9444.1																																																																																				0.413	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		27	62	0	0	0	0	27	62				
FARP1	10160	broad.mit.edu	37	13	99061621	99061621	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr13:99061621G>T	ENST00000319562.6	+	14	1709	c.1444G>T	c.(1444-1446)Gag>Tag	p.E482*	FARP1_ENST00000376586.2_Nonsense_Mutation_p.E482*|FARP1_ENST00000595437.1_Nonsense_Mutation_p.E482*	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	482					dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TCACCTTTCCGAGCTGTCTGT	0.522																																						uc001vnj.2		NA																	0				breast(2)	2						c.(1444-1446)GAG>TAG		FERM, RhoGEF, and pleckstrin domain protein 1							43.0	43.0	43.0					13																	99061621		2203	4300	6503	SO:0001587	stop_gained	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99061621G>T	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.1444G>T	13.37:g.99061621G>T	ENSP00000322926:p.Glu482*					FARP1_uc001vnh.2_Nonsense_Mutation_p.E482*	p.E482*	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		14	1780	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		482					Q5JVI9|Q6IQ29	Nonsense_Mutation	SNP	ENST00000319562.6	37	c.1444G>T	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	G	37	6.117790	0.97300	.	.	ENSG00000152767	ENST00000376586;ENST00000376584;ENST00000319562	.	.	.	5.47	5.47	0.80525	.	0.285002	0.35525	N	0.003145	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	17.5056	0.87745	0.0:0.0:1.0:0.0	.	.	.	.	X	482;187;482	.	ENSP00000322926:E482X	E	+	1	0	FARP1	97859622	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.449000	0.66619	2.543000	0.85770	0.655000	0.94253	GAG		0.522	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		4	73	1	0	0.000602214	0.000904697	4	73				
COL4A1	1282	broad.mit.edu	37	13	110831718	110831718	+	Silent	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr13:110831718G>A	ENST00000375820.4	-	30	2365	c.2244C>T	c.(2242-2244)ccC>ccT	p.P748P		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	748	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CAGGAATGCCGGGAAGACCTG	0.562																																						uc001vqw.3		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(2242-2244)CCC>CCT		alpha 1 type IV collagen preproprotein							69.0	73.0	72.0					13																	110831718		2203	4300	6503	SO:0001819	synonymous_variant	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110831718G>A	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.2244C>T	13.37:g.110831718G>A						COL4A1_uc010agl.2_Intron	p.P748P	NM_001845	NP_001836	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		30	2366	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	748			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	ENST00000375820.4	37	c.2244C>T	CCDS9511.1																																																																																				0.562	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			19	70	0	0	0	0	19	70				
COL4A2	1284	broad.mit.edu	37	13	111090996	111090996	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr13:111090996T>A	ENST00000360467.5	+	15	1199	c.893T>A	c.(892-894)aTg>aAg	p.M298K		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	298	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)			GAAGGAATCATGGGCTTTCCT	0.527																																						uc001vqx.2		NA																	0				skin(3)|central_nervous_system(2)|ovary(1)	6						c.(892-894)ATG>AAG		alpha 2 type IV collagen preproprotein							151.0	155.0	153.0					13																	111090996		1895	4120	6015	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111090996T>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.893T>A	13.37:g.111090996T>A	ENSP00000353654:p.Met298Lys						p.M298K	NM_001846	NP_001837	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		15	1182	+	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)	298			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.893T>A	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	T	0.081	-1.183390	0.01620	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.95853	-3.83	4.52	4.52	0.55395	.	0.190183	0.36002	N	0.002850	D	0.87958	0.6309	N	0.10916	0.065	0.41329	D	0.987223	B	0.30889	0.299	B	0.36534	0.227	D	0.84206	0.0453	10	0.05525	T	0.97	.	10.5492	0.45079	0.0:0.0:0.0:1.0	.	298	P08572	CO4A2_HUMAN	K	298	ENSP00000353654:M298K	ENSP00000257309:M298K	M	+	2	0	COL4A2	109888997	0.999000	0.42202	0.985000	0.45067	0.249000	0.25844	2.304000	0.43655	1.807000	0.52817	0.455000	0.32223	ATG		0.527	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		31	76	0	0	0	0	31	76				
TUBGCP3	10426	broad.mit.edu	37	13	113210456	113210456	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr13:113210456G>A	ENST00000261965.3	-	6	817	c.631C>T	c.(631-633)Cag>Tag	p.Q211*	TUBGCP3_ENST00000375669.3_Nonsense_Mutation_p.Q211*	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	211					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GAAGAAGGCTGATTTGCAGTT	0.493																																						uc001vse.1		NA																	0				central_nervous_system(1)	1						c.(631-633)CAG>TAG		tubulin, gamma complex associated protein 3							145.0	121.0	129.0					13																	113210456		2203	4300	6503	SO:0001587	stop_gained	10426				G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	g.chr13:113210456G>A	AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.631C>T	13.37:g.113210456G>A	ENSP00000261965:p.Gln211*					TUBGCP3_uc010tjq.1_Nonsense_Mutation_p.Q201*|TUBGCP3_uc001vsf.2_Nonsense_Mutation_p.Q211*|TUBGCP3_uc001vsg.1_Nonsense_Mutation_p.Q211*	p.Q211*	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN			6	818	-	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		211					O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Nonsense_Mutation	SNP	ENST00000261965.3	37	c.631C>T	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	G	38	7.166185	0.98107	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	.	.	.	5.07	5.07	0.68467	.	0.114577	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-17.1361	18.901	0.92443	0.0:0.0:1.0:0.0	.	.	.	.	X	211	.	ENSP00000261965:Q211X	Q	-	1	0	TUBGCP3	112258457	1.000000	0.71417	0.987000	0.45799	0.982000	0.71751	6.638000	0.74309	2.534000	0.85438	0.638000	0.83543	CAG		0.493	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322		18	42	0	0	0	0	18	42				
TFDP1	7027	broad.mit.edu	37	13	114240088	114240088	+	Splice_Site	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr13:114240088G>A	ENST00000375370.5	+	2	148		c.e2-1		TFDP1_ENST00000544902.1_Splice_Site|TFDP1_ENST00000465174.1_Splice_Site|TFDP1_ENST00000538138.1_Splice_Site	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1						anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			ttttttACCAGAAAAATCATT	0.333										TSP Lung(29;0.18)																												uc001vtw.2		NA																	0				lung(4)|ovary(2)|skin(1)	7						c.e2-1		transcription factor Dp-1							34.0	28.0	30.0					13																	114240088		692	1590	2282	SO:0001630	splice_region_variant	7027				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr13:114240088G>A	BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.-64-1G>A	13.37:g.114240088G>A		TSP Lung(29;0.18)				TFDP1_uc010tkd.1_Splice_Site|TFDP1_uc010tke.1_Splice_Site|TFDP1_uc001vty.3_5'Flank|TFDP1_uc001vtv.2_Splice_Site|TFDP1_uc010agx.2_Splice_Site		NM_007111	NP_009042	Q14186	TFDP1_HUMAN	all cancers(43;0.0576)		2	149	+	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)						B4DLQ9|Q5JSB4|Q8IZL5	Splice_Site	SNP	ENST00000375370.5	37	c.-63_splice	CCDS9538.1																																																																																				0.333	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045918.3	NM_007111	Intron	8	20	0	0	0	0	8	20				
SYNDIG1L	646658	broad.mit.edu	37	14	74876129	74876129	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr14:74876129C>T	ENST00000554823.1	-	1	380	c.319G>A	c.(319-321)Gga>Aga	p.G107R	SYNDIG1L_ENST00000331628.3_Missense_Mutation_p.G107R			A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	107					response to biotic stimulus (GO:0009607)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						TGGCCAGGTCCTGTGGGCTGC	0.617																																						uc001xpx.2		NA																	0					0						c.(319-321)GGA>AGA		transmembrane protein 90A							64.0	67.0	66.0					14																	74876129		2004	4175	6179	SO:0001583	missense	646658				response to biotic stimulus	Golgi apparatus|integral to membrane		g.chr14:74876129C>T		CCDS41970.1	14q24.3	2011-06-30	2011-06-30	2011-06-30		ENSG00000183379			32388	protein-coding gene	gene with protein product	"""caudate-and putamen-enriched sequence"", ""interferon induced transmembrane protein domain containing 4"""	609999	"""transmembrane protein 90A"""	TMEM90A		16359841	Standard	NM_001105579		Approved	capucin, IFITMD4	uc001xpx.2	A6NDD5		ENST00000554823.1:c.319G>A	14.37:g.74876129C>T	ENSP00000450439:p.Gly107Arg						p.G107R	NM_001105579	NP_001099049	A6NDD5	SYN1L_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00159)	2	567	-			107						Missense_Mutation	SNP	ENST00000554823.1	37	c.319G>A	CCDS41970.1	.	.	.	.	.	.	.	.	.	.	C	5.340	0.247996	0.10130	.	.	ENSG00000183379	ENST00000331628;ENST00000554823	D;D	0.95272	-3.66;-3.66	4.63	3.72	0.42706	.	0.537691	0.19064	N	0.123681	D	0.88250	0.6386	N	0.19112	0.55	0.23271	N	0.99801	B	0.06786	0.001	B	0.04013	0.001	T	0.78532	-0.2168	10	0.37606	T	0.19	-0.4506	11.4445	0.50114	0.0:0.9146:0.0:0.0854	.	107	A6NDD5	SYN1L_HUMAN	R	107	ENSP00000331474:G107R;ENSP00000450439:G107R	ENSP00000331474:G107R	G	-	1	0	SYNDIG1L	73945882	0.353000	0.24904	0.047000	0.18901	0.007000	0.05969	3.863000	0.56016	2.402000	0.81655	0.467000	0.42956	GGA		0.617	SYNDIG1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412341.1	XM_938515		32	66	0	0	0	0	32	66				
MTA1	9112	broad.mit.edu	37	14	105936520	105936520	+	Missense_Mutation	SNP	G	G	A	rs201443931		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr14:105936520G>A	ENST00000331320.7	+	21	2330	c.2116G>A	c.(2116-2118)Gtc>Atc	p.V706I	MTA1_ENST00000405646.1_Missense_Mutation_p.V689I|MTA1_ENST00000435036.2_Missense_Mutation_p.V246I|RP11-521B24.5_ENST00000552675.1_RNA|MTA1_ENST00000406191.1_Missense_Mutation_p.V694I|CRIP2_ENST00000483017.3_5'Flank	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	706					circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		ACCTGCGCCCGTCAACGACGA	0.761													G|||	1	0.000199681	0.0008	0.0	5008	,	,		8101	0.0		0.0	False		,,,				2504	0.0					uc001yqx.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(2116-2118)GTC>ATC		metastasis associated protein		G	,ILE/VAL	1,4281		0,1,2140	13.0	14.0	14.0		,2116	4.6	0.9	14		14	0,8228		0,0,4114	no	utr-3,missense	MTA1	NM_001203258.1,NM_004689.3	,29	0,1,6254	AA,AG,GG		0.0,0.0234,0.0080	,benign	,706/716	105936520	1,12509	2141	4114	6255	SO:0001583	missense	9112				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:105936520G>A	U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"""GATA zinc finger domain containing"""	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.2116G>A	14.37:g.105936520G>A	ENSP00000333633:p.Val706Ile					MTA1_uc001yqy.2_RNA|MTA1_uc001yrb.2_Missense_Mutation_p.V471I|CRIP2_uc010tyr.1_5'Flank|CRIP2_uc001yrc.2_5'Flank	p.V706I	NM_004689	NP_004680	Q13330	MTA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)	21	2303	+		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	706					A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Missense_Mutation	SNP	ENST00000331320.7	37	c.2116G>A	CCDS32169.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	11.15|11.15	1.553024|1.553024	0.27739|0.27739	2.34E-4|2.34E-4	0.0|0.0	ENSG00000182979|ENSG00000182979	ENST00000494981|ENST00000414153;ENST00000331320;ENST00000406191;ENST00000405646;ENST00000434050;ENST00000435036;ENST00000426567	.|T;T;T;T;T;T	.|0.45276	.|1.52;1.52;1.51;1.53;0.93;0.9	4.64|4.64	4.64|4.64	0.57946|0.57946	.|.	.|0.338213	.|0.27340	.|N	.|0.019817	T|T	0.23410|0.23410	0.0566|0.0566	N|N	0.14661|0.14661	0.345|0.345	0.29609|0.29609	N|N	0.847089|0.847089	.|B;B	.|0.24426	.|0.103;0.004	.|B;B	.|0.17098	.|0.017;0.004	T|T	0.11421|0.11421	-1.0588|-1.0588	5|10	.|0.17832	.|T	.|0.49	-25.8398|-25.8398	10.7779|10.7779	0.46361|0.46361	0.0952:0.0:0.9048:0.0|0.0952:0.0:0.9048:0.0	.|.	.|502;706	.|Q59FW1;Q13330	.|.;MTA1_HUMAN	H|I	132|619;706;694;689;502;246;118	.|ENSP00000333633:V706I;ENSP00000385702:V694I;ENSP00000384180:V689I;ENSP00000394106:V502I;ENSP00000389425:V246I;ENSP00000395371:V118I	.|ENSP00000333633:V706I	R|V	+|+	2|1	0|0	MTA1|MTA1	105007565|105007565	0.992000|0.992000	0.36948|0.36948	0.887000|0.887000	0.34795|0.34795	0.170000|0.170000	0.22686|0.22686	2.223000|2.223000	0.42936|0.42936	2.137000|2.137000	0.66172|0.66172	0.491000|0.491000	0.48974|0.48974	CGT|GTC		0.761	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15			10	22	0	0	0	0	10	22				
GABRB3	2562	broad.mit.edu	37	15	26828523	26828523	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr15:26828523C>T	ENST00000311550.5	-	5	611	c.500G>A	c.(499-501)aGa>aAa	p.R167K	GABRB3_ENST00000400188.3_Missense_Mutation_p.R96K|GABRB3_ENST00000299267.4_Missense_Mutation_p.R167K|GABRB3_ENST00000545868.1_Missense_Mutation_p.R82K|GABRB3_ENST00000541819.2_Missense_Mutation_p.R223K	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	167					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CAGGGGGTATCTCCTGAGGTC	0.453																																						uc001zaz.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5						c.(499-501)AGA>AAA		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						168.0	151.0	157.0					15																	26828523		2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26828523C>T		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.500G>A	15.37:g.26828523C>T	ENSP00000308725:p.Arg167Lys					GABRB3_uc010uae.1_Missense_Mutation_p.R82K|GABRB3_uc001zba.2_Missense_Mutation_p.R167K|GABRB3_uc001zbb.2_Missense_Mutation_p.R223K	p.R167K	NM_000814	NP_000805	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	5	642	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	167			Extracellular (Probable).		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.500G>A	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.463356	0.26248	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868;ENST00000555094	T;T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09;-1.09	4.76	4.76	0.60689	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.67970	0.2950	L	0.31664	0.95	0.58432	D	0.999999	B;B;B	0.27013	0.137;0.137;0.166	B;B;B	0.31101	0.076;0.076;0.124	T	0.63242	-0.6681	10	0.12103	T	0.63	.	17.1123	0.86679	0.0:1.0:0.0:0.0	.	223;167;167	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	K	167;223;167;96;82;82	ENSP00000308725:R167K;ENSP00000442408:R223K;ENSP00000299267:R167K;ENSP00000383049:R96K;ENSP00000439169:R82K;ENSP00000452272:R82K	ENSP00000299267:R167K	R	-	2	0	GABRB3	24379616	1.000000	0.71417	0.531000	0.27976	0.032000	0.12392	7.637000	0.83313	2.346000	0.79739	0.650000	0.86243	AGA		0.453	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			21	55	0	0	0	0	21	55				
VPS39	23339	broad.mit.edu	37	15	42457994	42457994	+	Silent	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr15:42457994C>T	ENST00000348544.4	-	18	1733	c.1734G>A	c.(1732-1734)ccG>ccA	p.P578P	VPS39_ENST00000318006.5_Silent_p.P567P			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	578					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		ACTCCACTTCCGGGAGATCTT	0.473																																						uc001zpd.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1732-1734)CCG>CCA		vacuolar protein sorting 39							76.0	77.0	77.0					15																	42457994		2203	4299	6502	SO:0001819	synonymous_variant	23339				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity	g.chr15:42457994C>T	AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"""vacuolar protein sorting 39 (yeast)"""			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.1734G>A	15.37:g.42457994C>T						VPS39_uc001zpc.2_Silent_p.P567P|VPS39_uc001zpb.2_5'UTR	p.P578P	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	18	1885	-		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	578					O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Silent	SNP	ENST00000348544.4	37	c.1734G>A	CCDS10083.1																																																																																				0.473	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1	NM_015289		8	40	0	0	0	0	8	40				
MYO5A	4644	broad.mit.edu	37	15	52672101	52672101	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr15:52672101C>G	ENST00000399231.3	-	17	2260	c.2017G>C	c.(2017-2019)Gat>Cat	p.D673H	MYO5A_ENST00000553916.1_Missense_Mutation_p.D673H|MYO5A_ENST00000358212.6_Missense_Mutation_p.D673H|MYO5A_ENST00000399233.2_Missense_Mutation_p.D673H|MYO5A_ENST00000356338.6_Missense_Mutation_p.D673H	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	673	Myosin motor.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CTCTTCTCATCAAACCTACAA	0.493																																						uc002aby.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(2017-2019)GAT>CAT		myosin VA isoform 1							60.0	63.0	62.0					15																	52672101		1944	4176	6120	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52672101C>G		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.2017G>C	15.37:g.52672101C>G	ENSP00000382177:p.Asp673His					MYO5A_uc002abx.3_Missense_Mutation_p.D673H|MYO5A_uc010uge.1_Missense_Mutation_p.D542H	p.D673H	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	17	2261	-			673			Myosin head-like.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.2017G>C	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448086	0.84101	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62	4.99	4.99	0.66335	Myosin head, motor domain (2);	0.092689	0.64402	D	0.000001	D	0.95921	0.8672	M	0.86502	2.82	0.80722	D	1	P;D	0.89917	0.951;1.0	P;D	0.72338	0.692;0.977	D	0.96579	0.9429	10	0.87932	D	0	.	18.6432	0.91402	0.0:1.0:0.0:0.0	.	673;673	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	H	673;207;673;673;673;303;673	ENSP00000382177:D673H;ENSP00000382179:D673H;ENSP00000348693:D673H;ENSP00000350945:D673H;ENSP00000451109:D673H	ENSP00000348693:D673H	D	-	1	0	MYO5A	50459393	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.729000	0.84864	2.464000	0.83262	0.650000	0.86243	GAT		0.493	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		18	53	0	0	0	0	18	53				
DAPK2	23604	broad.mit.edu	37	15	64204146	64204146	+	Silent	SNP	C	C	T	rs201355789		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr15:64204146C>T	ENST00000457488.1	-	11	1023	c.993G>A	c.(991-993)tcG>tcA	p.S331S	DAPK2_ENST00000261891.3_Silent_p.S331S	NM_014326.3	NP_055141.2	Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	331	Calmodulin-binding.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		TCTTCATCAGCGAGCGGGTGA	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		14926	0.001		0.0	False		,,,				2504	0.0					uc002amr.2		NA																	0				stomach(1)|central_nervous_system(1)	2						c.(991-993)TCG>TCA		death-associated kinase 2							78.0	60.0	66.0					15																	64204146		2203	4300	6503	SO:0001819	synonymous_variant	23604				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding	g.chr15:64204146C>T	AB018001	CCDS10188.1	15q22.1	2008-07-18			ENSG00000035664	ENSG00000035664			2675	protein-coding gene	gene with protein product						10376525	Standard	XM_005254265		Approved	DRP-1, MGC119312	uc002amr.3	Q9UIK4	OTTHUMG00000132947	ENST00000457488.1:c.993G>A	15.37:g.64204146C>T						DAPK2_uc010uim.1_RNA	p.S331S	NM_014326	NP_055141	Q9UIK4	DAPK2_HUMAN		LUAD - Lung adenocarcinoma(2;0.215)	11	1024	-			331			Calmodulin-binding.		E9JGM7|O75892|Q24JS1	Silent	SNP	ENST00000457488.1	37	c.993G>A	CCDS10188.1																																																																																				0.577	DAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256479.1	NM_014326		9	22	0	0	0	0	9	22				
HCN4	10021	broad.mit.edu	37	15	73616247	73616247	+	Silent	SNP	G	G	C	rs201156570		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr15:73616247G>C	ENST00000261917.3	-	8	3180	c.2187C>G	c.(2185-2187)ctC>ctG	p.L729L		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	729					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CGCCGGAGTTGAGGTCGTGCT	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		12799	0.0		0.001	False		,,,				2504	0.0					uc002avp.2		NA																	0				ovary(5)|liver(1)	6						c.(2185-2187)CTC>CTG		hyperpolarization activated cyclic							76.0	82.0	80.0					15																	73616247		2198	4297	6495	SO:0001819	synonymous_variant	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73616247G>C	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.2187C>G	15.37:g.73616247G>C							p.L729L	NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	8	3181	-			729			Cytoplasmic (Potential).		Q9UMQ7	Silent	SNP	ENST00000261917.3	37	c.2187C>G	CCDS10248.1																																																																																				0.592	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		23	68	0	0	0	0	23	68				
NEIL1	79661	broad.mit.edu	37	15	75641450	75641450	+	Silent	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr15:75641450C>G	ENST00000564784.1	+	3	833	c.204C>G	c.(202-204)ccC>ccG	p.P68P	NEIL1_ENST00000569035.1_Silent_p.P68P|NEIL1_ENST00000567959.1_Intron|NEIL1_ENST00000355059.4_Silent_p.P68P			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	68					base-excision repair (GO:0006284)|negative regulation of nuclease activity (GO:0032074)|nucleotide-excision repair (GO:0006289)|response to oxidative stress (GO:0006979)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						GGGCCCAGCCCCAACAGGAGC	0.657								Base excision repair (BER), DNA glycosylases																														uc002bad.2		NA																	0				ovary(1)	1						c.(202-204)CCC>CCG	BER_DNA_glycosylases	nei endonuclease VIII-like 1							36.0	32.0	33.0					15																	75641450		2197	4290	6487	SO:0001819	synonymous_variant	79661				base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding	g.chr15:75641450C>G	AK026055	CCDS10278.1	15q33.33	2008-07-18			ENSG00000140398	ENSG00000140398			18448	protein-coding gene	gene with protein product		608844				11904416	Standard	NM_024608		Approved	FLJ22402, hFPG1, NEI1, FPG1	uc002bae.4	Q96FI4	OTTHUMG00000142821	ENST00000564784.1:c.204C>G	15.37:g.75641450C>G						NEIL1_uc002bae.2_Silent_p.P154P	p.P68P	NM_024608	NP_078884	Q96FI4	NEIL1_HUMAN			2	710	+			68					D3DW75|Q6ZRA7|Q86XW7|Q9H6C3	Silent	SNP	ENST00000564784.1	37	c.204C>G	CCDS10278.1																																																																																				0.657	NEIL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419885.1	NM_024608		13	44	0	0	0	0	13	44				
PKD1	5310	broad.mit.edu	37	16	2159316	2159316	+	Missense_Mutation	SNP	C	C	T	rs137905643	byFrequency	TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:2159316C>T	ENST00000262304.4	-	15	6060	c.5852G>A	c.(5851-5853)cGg>cAg	p.R1951Q	PKD1_ENST00000423118.1_Missense_Mutation_p.R1951Q|PKD1_ENST00000561991.1_5'Flank	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1951	PKD 15. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTTTTTGCCCCGCACGCTCAC	0.706													t|||	10	0.00199681	0.0068	0.0014	5008	,	,		15394	0.0		0.0	False		,,,				2504	0.0					uc002cos.1		NA																	0				central_nervous_system(2)|skin(1)	3						c.(5851-5853)CGG>CAG		polycystin 1 isoform 1 precursor		T	GLN/ARG,GLN/ARG	7,4247		0,7,2120	13.0	15.0	14.0		5852,5852	4.2	1.0	16	dbSNP_134	14	1,8347		0,1,4173	no	missense,missense	PKD1	NM_000296.3,NM_001009944.2	43,43	0,8,6293	TT,TC,CC		0.012,0.1646,0.0635	benign,benign	1951/4303,1951/4304	2159316	8,12594	2127	4174	6301	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2159316C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.5852G>A	16.37:g.2159316C>T	ENSP00000262304:p.Arg1951Gln					PKD1_uc002cot.1_Missense_Mutation_p.R1951Q	p.R1951Q	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			15	6061	-			1951			Extracellular (Potential).|PKD 15.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.5852G>A	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	t	2.032	-0.422196	0.04734	0.001646	1.2E-4	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000382481	T;T	0.61980	0.06;0.06	5.33	4.24	0.50183	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (2);	0.410839	0.25944	N	0.027283	T	0.18087	0.0434	N	0.00237	-1.79	0.20307	N	0.999914	B;B	0.15719	0.014;0.004	B;B	0.14023	0.003;0.01	T	0.28004	-1.0057	10	0.07482	T	0.82	.	1.7335	0.02937	0.1187:0.1593:0.179:0.543	.	1951;1951	P98161-3;P98161	.;PKD1_HUMAN	Q	1951;1951;230	ENSP00000262304:R1951Q;ENSP00000399501:R1951Q	ENSP00000262304:R1951Q	R	-	2	0	PKD1	2099317	1.000000	0.71417	0.970000	0.41538	0.013000	0.08279	1.278000	0.33179	0.352000	0.24053	-0.421000	0.06004	CGG		0.706	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			5	28	0	0	0	0	5	28				
MGRN1	23295	broad.mit.edu	37	16	4714767	4714767	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:4714767G>T	ENST00000399577.5	+	6	712	c.619G>T	c.(619-621)Gaa>Taa	p.E207*	MGRN1_ENST00000262370.7_Nonsense_Mutation_p.E207*|MGRN1_ENST00000586183.1_Nonsense_Mutation_p.E207*|MGRN1_ENST00000415496.1_Nonsense_Mutation_p.E207*|MGRN1_ENST00000588994.1_Nonsense_Mutation_p.E207*	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	207					endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						TGTGGTGGACGAAGGAGATGG	0.592																																						uc002cwz.2		NA																	0				ovary(1)|skin(1)	2						c.(619-621)GAA>TAA		mahogunin, ring finger 1 isoform 3							116.0	117.0	117.0					16																	4714767		2156	4259	6415	SO:0001587	stop_gained	23295				endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:4714767G>T	AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"""RING-type (C3HC4) zinc fingers"""	20254	protein-coding gene	gene with protein product		607559	"""mahogunin, ring finger 1"""			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.619G>T	16.37:g.4714767G>T	ENSP00000382487:p.Glu207*					MGRN1_uc002cxa.2_Nonsense_Mutation_p.E207*|MGRN1_uc010btx.2_Nonsense_Mutation_p.E207*|MGRN1_uc010btw.2_Nonsense_Mutation_p.E207*|MGRN1_uc002cxb.2_Nonsense_Mutation_p.E207*|MGRN1_uc010uxo.1_Nonsense_Mutation_p.E207*|MGRN1_uc010uxp.1_Nonsense_Mutation_p.E207*|MGRN1_uc010uxq.1_RNA	p.E207*	NM_001142290	NP_001135762	O60291	MGRN1_HUMAN			6	755	+			207					A4URL3|A4URL4|Q86W76	Nonsense_Mutation	SNP	ENST00000399577.5	37	c.619G>T	CCDS45402.1	.	.	.	.	.	.	.	.	.	.	G	37	6.147391	0.97324	.	.	ENSG00000102858	ENST00000262370;ENST00000399577;ENST00000415496;ENST00000536343	.	.	.	5.01	5.01	0.66863	.	0.094180	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-12.5851	17.1172	0.86692	0.0:0.0:1.0:0.0	.	.	.	.	X	207	.	ENSP00000262370:E207X	E	+	1	0	MGRN1	4654768	1.000000	0.71417	0.946000	0.38457	0.686000	0.39977	9.657000	0.98554	2.615000	0.88500	0.555000	0.69702	GAA		0.592	MGRN1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432060.2			18	61	1	0	1.68e-08	2.68e-08	18	61				
NUDT16L1	84309	broad.mit.edu	37	16	4745024	4745024	+	Missense_Mutation	SNP	C	C	G	rs143151090		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:4745024C>G	ENST00000304301.6	+	3	513	c.480C>G	c.(478-480)ttC>ttG	p.F160L	NUDT16L1_ENST00000405142.1_3'UTR|NUDT16L1_ENST00000586536.1_Missense_Mutation_p.P184A|NUDT16L1_ENST00000586252.1_Intron	NM_032349.3	NP_115725.1	Q9BRJ7	SDOS_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1	160	Interaction with PXN. {ECO:0000250}.					cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						TCCCCAACTTCCTGAGCAACG	0.642																																						uc002cxe.2		NA																	0					0						c.(478-480)TTC>TTG		syndesmos							69.0	56.0	61.0					16																	4745024		2197	4300	6497	SO:0001583	missense	84309					cytoplasm	hydrolase activity	g.chr16:4745024C>G	BC006223	CCDS10519.1, CCDS59257.1	16p13.3	2008-02-05			ENSG00000168101	ENSG00000168101		"""Nudix motif containing"""	28154	protein-coding gene	gene with protein product						11805099	Standard	NM_032349		Approved	SDOS	uc002cxe.3	Q9BRJ7	OTTHUMG00000129471	ENST00000304301.6:c.480C>G	16.37:g.4745024C>G	ENSP00000306670:p.Phe160Leu					NUDT16L1_uc002cxf.1_3'UTR	p.F160L	NM_032349	NP_115725	Q9BRJ7	SDOS_HUMAN			3	492	+			160			Interaction with PXN (By similarity).		Q8NAI2	Missense_Mutation	SNP	ENST00000304301.6	37	c.480C>G	CCDS10519.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215599	0.79352	.	.	ENSG00000168101	ENST00000304301	T	0.50001	0.76	4.52	2.5	0.30297	NUDIX hydrolase domain-like (1);	0.806142	0.10535	N	0.663375	T	0.46795	0.1411	M	0.71206	2.165	0.80722	D	1	B	0.14012	0.009	B	0.13407	0.009	T	0.41016	-0.9532	10	0.87932	D	0	.	7.7688	0.28995	0.0:0.74:0.1654:0.0945	.	160	Q9BRJ7	SDOS_HUMAN	L	160	ENSP00000306670:F160L	ENSP00000306670:F160L	F	+	3	2	NUDT16L1	4685025	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	2.986000	0.49370	0.320000	0.23234	-0.175000	0.13238	TTC		0.642	NUDT16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251634.1	NM_032349		8	46	0	0	0	0	8	46				
GGA2	23062	broad.mit.edu	37	16	23498078	23498078	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:23498078C>G	ENST00000309859.4	-	7	695	c.613G>C	c.(613-615)Gag>Cag	p.E205Q	GGA2_ENST00000567468.1_Missense_Mutation_p.E205Q	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	205	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		TGAAGGTCCTCGGGGTGGTTG	0.507																																						uc002dlq.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(613-615)GAG>CAG		ADP-ribosylation factor binding protein 2							241.0	231.0	234.0					16																	23498078		2197	4300	6497	SO:0001583	missense	23062				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	g.chr16:23498078C>G	AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.613G>C	16.37:g.23498078C>G	ENSP00000311962:p.Glu205Gln					GGA2_uc010bxo.1_RNA	p.E205Q	NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN		GBM - Glioblastoma multiforme(48;0.0386)	7	689	-			205			GAT.		D3DWF0|O14564|Q9NYN2|Q9UPS2	Missense_Mutation	SNP	ENST00000309859.4	37	c.613G>C	CCDS10611.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875324	0.91664	.	.	ENSG00000103365	ENST00000309859	T	0.46819	0.86	6.07	5.12	0.69794	GAT (1);	0.104666	0.64402	D	0.000005	T	0.66925	0.2839	M	0.78049	2.395	0.54753	D	0.999986	D	0.76494	0.999	D	0.70016	0.967	T	0.67806	-0.5575	10	0.37606	T	0.19	-31.4196	13.1543	0.59508	0.0:0.9232:0.0:0.0768	.	205	Q9UJY4	GGA2_HUMAN	Q	205	ENSP00000311962:E205Q	ENSP00000311962:E205Q	E	-	1	0	GGA2	23405579	1.000000	0.71417	0.955000	0.39395	0.980000	0.70556	7.393000	0.79851	1.588000	0.49971	0.650000	0.86243	GAG		0.507	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1			64	154	0	0	0	0	64	154				
SEPT1	1731	broad.mit.edu	37	16	30393647	30393647	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:30393647G>C	ENST00000571393.1	-	3	229	c.43C>G	c.(43-45)Ctg>Gtg	p.L15V	SEPT1_ENST00000605106.1_Missense_Mutation_p.L20V|SEPT1_ENST00000321367.3_Missense_Mutation_p.L62V|SEPT1_ENST00000570039.1_5'Flank			Q8WYJ6	SEPT1_HUMAN	septin 1	15					cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			TTGCGGTGCAGCTGGTTGGGG	0.582																																						uc002dxy.2		NA																	0				ovary(1)	1						c.(43-45)CTG>GTG		septin 1							86.0	70.0	76.0					16																	30393647		2197	4300	6497	SO:0001583	missense	1731				cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding	g.chr16:30393647G>C	AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"""Septins"""	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984	ENST00000571393.1:c.43C>G	16.37:g.30393647G>C	ENSP00000460441:p.Leu15Val					SEPT1_uc002dxx.2_5'UTR|SEPT1_uc010veq.1_Missense_Mutation_p.L62V	p.L15V	NM_052838	NP_443070	Q8WYJ6	SEPT1_HUMAN	Colorectal(24;0.193)		3	230	-			15					B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Missense_Mutation	SNP	ENST00000571393.1	37	c.43C>G		.	.	.	.	.	.	.	.	.	.	G	5.771	0.326628	0.10900	.	.	ENSG00000180096	ENST00000321367	.	.	.	5.91	5.91	0.95273	.	0.000000	0.45126	D	0.000393	T	0.41073	0.1143	N	0.25647	0.755	0.44570	D	0.997533	B;B	0.17038	0.02;0.003	B;B	0.21360	0.034;0.009	T	0.27191	-1.0081	9	0.02654	T	1	.	13.7731	0.63038	0.0:0.2575:0.7424:0.0	.	62;15	B4E0I4;Q8WYJ6	.;SEPT1_HUMAN	V	15	.	ENSP00000324511:L15V	L	-	1	2	SEPT1	30301148	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.259000	0.51515	2.793000	0.96121	0.655000	0.94253	CTG		0.582	SEPT1-201	KNOWN	basic	protein_coding	protein_coding		NM_052838		11	39	0	0	0	0	11	39				
ZNF768	79724	broad.mit.edu	37	16	30536711	30536711	+	Silent	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:30536711G>A	ENST00000380412.5	-	2	925	c.750C>T	c.(748-750)ggC>ggT	p.G250G	ZNF768_ENST00000562803.1_Silent_p.G219G	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	250					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						CCCTGGCCCGGCCACCCCGCC	0.662																																						uc002dyk.3		NA																	0					0						c.(748-750)GGC>GGT		zinc finger protein 768							31.0	35.0	34.0					16																	30536711		2196	4298	6494	SO:0001819	synonymous_variant	79724				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding	g.chr16:30536711G>A	BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"""Zinc fingers, C2H2-type"""	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.750C>T	16.37:g.30536711G>A						ZNF768_uc010vex.1_Silent_p.G219G|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Silent_p.G219G	p.G250G	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN			2	926	-			250					Q569L7|Q96CX4	Silent	SNP	ENST00000380412.5	37	c.750C>T	CCDS10681.2																																																																																				0.662	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2	NM_024671		4	83	0	0	0	0	4	83				
OGFOD1	55239	broad.mit.edu	37	16	56503929	56503929	+	Silent	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:56503929G>A	ENST00000566157.1	+	9	1038	c.915G>A	c.(913-915)acG>acA	p.T305T	OGFOD1_ENST00000568397.1_Silent_p.T262T	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	305					cell proliferation (GO:0008283)|peptidyl-proline hydroxylation (GO:0019511)|protein hydroxylation (GO:0018126)|regulation of translational termination (GO:0006449)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 3-dioxygenase activity (GO:0031544)|peptidyl-proline dioxygenase activity (GO:0031543)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	AGAAATTCACGAAAGTCTGTG	0.478																																						uc002ejb.2		NA																	0				skin(1)	1						c.(913-915)ACG>ACA		2-oxoglutarate and iron-dependent oxygenase	Vitamin C(DB00126)						115.0	111.0	112.0					16																	56503929		2198	4300	6498	SO:0001819	synonymous_variant	55239						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:56503929G>A	BC032919	CCDS10761.2	16q12.2	2010-11-23			ENSG00000087263	ENSG00000087263			25585	protein-coding gene	gene with protein product	"""TPA1, termination and polyadenylation 1, homolog (S. cerevisiae)"""	615857				10997877	Standard	NM_018233		Approved	KIAA1612, FLJ10826, TPA1	uc002ejb.3	Q8N543	OTTHUMG00000133237	ENST00000566157.1:c.915G>A	16.37:g.56503929G>A						OGFOD1_uc002ejc.2_Silent_p.T165T	p.T305T	NM_018233	NP_060703	Q8N543	OGFD1_HUMAN			9	1016	+			305					H3BUQ2|Q9H7U5|Q9H9J9|Q9HA87|Q9HCG0|Q9NVB6	Silent	SNP	ENST00000566157.1	37	c.915G>A	CCDS10761.2																																																																																				0.478	OGFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256976.3	NM_018233		9	36	0	0	0	0	9	36				
ATP6V0D1	9114	broad.mit.edu	37	16	67487539	67487539	+	Silent	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:67487539G>A	ENST00000290949.3	-	2	360	c.210C>T	c.(208-210)atC>atT	p.I70I	ATP6V0D1_ENST00000540149.1_Silent_p.I70I|ATP6V0D1_ENST00000602876.1_5'UTR	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	70					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP hydrolysis coupled proton transport (GO:0015991)|brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|cellular protein metabolic process (GO:0044267)|cilium assembly (GO:0042384)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|synaptic vesicle (GO:0008021)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)			large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		GCCGGTCATCGATGACTGACA	0.532																																						uc002ete.1		NA																	0					0						c.(208-210)ATC>ATT		ATPase, H+ transporting, lysosomal, V0 subunit							176.0	135.0	149.0					16																	67487539		2198	4300	6498	SO:0001819	synonymous_variant	9114				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex		g.chr16:67487539G>A	X71490	CCDS10838.1	16q22	2010-04-21	2006-01-20	2002-05-10	ENSG00000159720	ENSG00000159720		"""ATPases / V-type"""	13724	protein-coding gene	gene with protein product		607028	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 1"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D1"""	ATP6D		8250920	Standard	NM_004691		Approved	ATP6DV, VATX, VPATPD, P39, Vma6	uc002ete.1	P61421	OTTHUMG00000137515	ENST00000290949.3:c.210C>T	16.37:g.67487539G>A						ATP6V0D1_uc010vjo.1_Silent_p.I70I|ATP6V0D1_uc010vjn.1_5'UTR	p.I70I	NM_004691	NP_004682	P61421	VA0D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)	2	310	-		Ovarian(137;0.0563)	70					P12953|Q02547	Silent	SNP	ENST00000290949.3	37	c.210C>T	CCDS10838.1																																																																																				0.532	ATP6V0D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268835.1	NM_004691		23	52	0	0	0	0	23	52				
FAM65A	79567	broad.mit.edu	37	16	67578271	67578271	+	Silent	SNP	G	G	A	rs370841432		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:67578271G>A	ENST00000379312.3	+	15	2803	c.2682G>A	c.(2680-2682)acG>acA	p.T894T	FAM65A_ENST00000422602.2_Silent_p.T910T|FAM65A_ENST00000540839.3_Silent_p.T909T|FAM65A_ENST00000042381.4_Silent_p.T890T|CTD-2012K14.3_ENST00000563083.1_RNA|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000428437.2_Silent_p.T904T	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	894						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CCCTCAGCACGGGGTGTCCAG	0.637																																						uc010vjp.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2728-2730)ACG>ACA		hypothetical protein LOC79567		G	,,,	1,4395	2.1+/-5.4	0,1,2197	94.0	87.0	90.0		2682,2730,2712,2670	-11.1	0.9	16		90	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FAM65A	NM_001193522.1,NM_001193523.1,NM_001193524.1,NM_024519.3	,,,	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	,,,	894/1224,910/1240,904/1234,890/1220	67578271	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	79567					cytoplasm	binding	g.chr16:67578271G>A	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.2682G>A	16.37:g.67578271G>A						FAM65A_uc002eth.2_Silent_p.T890T|FAM65A_uc010cej.2_Silent_p.T893T|FAM65A_uc010vjq.1_Silent_p.T904T|FAM65A_uc002etk.2_Silent_p.T888T	p.T910T	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	15	2826	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	894					B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Silent	SNP	ENST00000379312.3	37	c.2730G>A	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	G	9.495	1.101768	0.20632	2.27E-4	0.0	ENSG00000039523	ENST00000428437	.	.	.	5.55	-11.1	0.00147	.	.	.	.	.	T	0.43500	0.1250	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53851	-0.8380	4	.	.	.	-7.9279	7.2708	0.26256	0.1862:0.0739:0.5463:0.1936	.	.	.	.	R	884	.	.	G	+	1	0	FAM65A	66135772	0.000000	0.05858	0.863000	0.33907	0.972000	0.66771	-5.350000	0.00129	-1.433000	0.01977	-1.202000	0.01658	GGG		0.637	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		6	115	0	0	0	0	6	115				
WWP2	11060	broad.mit.edu	37	16	69965757	69965757	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:69965757G>A	ENST00000359154.2	+	16	1747	c.1646G>A	c.(1645-1647)cGt>cAt	p.R549H	WWP2_ENST00000568684.1_Missense_Mutation_p.R110H|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000542271.1_Missense_Mutation_p.R433H|WWP2_ENST00000448661.1_Missense_Mutation_p.R549H|WWP2_ENST00000356003.2_Missense_Mutation_p.R549H|MIR140_ENST00000385282.1_RNA	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	549	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ATCATCATGCGTGGCGAGGAG	0.622																																						uc002exu.1		NA																	0				lung(3)|ovary(1)|breast(1)|skin(1)	6						c.(1645-1647)CGT>CAT		WW domain containing E3 ubiquitin protein ligase							96.0	101.0	99.0					16																	69965757		2198	4300	6498	SO:0001583	missense	11060				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	g.chr16:69965757G>A	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.1646G>A	16.37:g.69965757G>A	ENSP00000352069:p.Arg549His					WWP2_uc002exv.1_Missense_Mutation_p.R549H|WWP2_uc010vlm.1_Missense_Mutation_p.R433H|WWP2_uc010vln.1_Missense_Mutation_p.R167H|WWP2_uc002exw.1_Missense_Mutation_p.R110H|uc002exx.1_5'Flank|MIR140_hsa-mir-140|MI0000456_5'Flank	p.R549H	NM_007014	NP_008945	O00308	WWP2_HUMAN			17	1735	+			549			HECT.		A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	ENST00000359154.2	37	c.1646G>A	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	G	35	5.487187	0.96323	.	.	ENSG00000198373	ENST00000359154;ENST00000545099;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.27	5.27	0.74061	HECT (3);	0.000000	0.85682	D	0.000000	T	0.52158	0.1717	L	0.39514	1.22	0.80722	D	1	D	0.89917	1.0	P	0.57776	0.827	T	0.42413	-0.9453	9	.	.	.	.	19.2502	0.93921	0.0:0.0:1.0:0.0	.	549	O00308	WWP2_HUMAN	H	549;110;549;549;436;433	ENSP00000352069:R549H;ENSP00000396871:R549H;ENSP00000348283:R549H;ENSP00000445616:R433H	.	R	+	2	0	WWP2	68523258	1.000000	0.71417	0.987000	0.45799	0.981000	0.71138	9.768000	0.98965	2.619000	0.88677	0.561000	0.74099	CGT		0.622	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		37	117	0	0	0	0	37	117				
CDYL2	124359	broad.mit.edu	37	16	80638305	80638305	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:80638305C>T	ENST00000570137.2	-	7	1656	c.1501G>A	c.(1501-1503)Gac>Aac	p.D501N	CDYL2_ENST00000563890.1_Missense_Mutation_p.D502N|CDYL2_ENST00000566173.1_Missense_Mutation_p.D502N|CDYL2_ENST00000562812.1_Missense_Mutation_p.D502N	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	501						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						TAAATTTTGTCCTGCAGGTAG	0.557																																						uc002ffs.2		NA																	0				central_nervous_system(1)	1						c.(1501-1503)GAC>AAC		chromodomain protein, Y-like 2							78.0	80.0	80.0					16																	80638305		2203	4300	6503	SO:0001583	missense	124359					nucleus	catalytic activity|protein binding	g.chr16:80638305C>T	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"""chromodomain Y-like protein 2"""			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.1501G>A	16.37:g.80638305C>T	ENSP00000476295:p.Asp501Asn						p.D501N	NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN			7	1606	-			501					Q7Z5I8	Missense_Mutation	SNP	ENST00000570137.2	37	c.1501G>A	CCDS32493.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.722725	0.30503	.	.	ENSG00000166446	ENST00000299564	T	0.55413	0.52	5.19	5.19	0.71726	.	0.095695	0.45606	D	0.000348	T	0.25531	0.0621	N	0.01352	-0.895	0.47862	D	0.999531	B	0.06786	0.001	B	0.09377	0.004	T	0.19844	-1.0293	10	0.12430	T	0.62	.	17.8945	0.88883	0.0:1.0:0.0:0.0	.	501	Q8N8U2	CDYL2_HUMAN	N	501	ENSP00000299564:D501N	ENSP00000299564:D501N	D	-	1	0	CDYL2	79195806	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.667000	0.54547	2.717000	0.92951	0.650000	0.86243	GAC		0.557	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342		23	66	0	0	0	0	23	66				
PKD1L2	114780	broad.mit.edu	37	16	81193337	81193337	+	RNA	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:81193337G>A	ENST00000525539.1	-	0	3785				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTGGCTCCAGGTCAGACTCAG	0.592																																						uc002fgh.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(3784-3786)GAC>GAT		polycystin 1-like 2 isoform a							46.0	48.0	47.0					16																	81193337		1995	4162	6157			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81193337G>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81193337G>A						PKD1L2_uc002fgg.1_RNA	p.D1262D	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			23	3786	-			1262			Extracellular (Potential).		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000525539.1	37	c.3786C>T																																																																																					0.592	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			5	17	0	0	0	0	5	17				
MBTPS1	8720	broad.mit.edu	37	16	84132678	84132678	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:84132678C>G	ENST00000343411.3	-	3	896	c.401G>C	c.(400-402)cGt>cCt	p.R134P		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	134					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTTGAGGGAACGAAAGACTTT	0.398																																						uc002fhi.2		NA																	0				ovary(2)	2						c.(400-402)CGT>CCT		membrane-bound transcription factor site-1							164.0	155.0	158.0					16																	84132678		2200	4300	6500	SO:0001583	missense	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84132678C>G	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.401G>C	16.37:g.84132678C>G	ENSP00000344223:p.Arg134Pro						p.R134P	NM_003791	NP_003782	Q14703	MBTP1_HUMAN			3	903	-			134					A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	c.401G>C	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087955	0.76642	.	.	ENSG00000140943	ENST00000343411	T	0.42900	0.96	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.67832	0.2935	M	0.79011	2.435	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.70107	-0.4963	10	0.72032	D	0.01	-12.6215	19.8478	0.96722	0.0:1.0:0.0:0.0	.	134	Q14703	MBTP1_HUMAN	P	134	ENSP00000344223:R134P	ENSP00000344223:R134P	R	-	2	0	MBTPS1	82690179	1.000000	0.71417	0.367000	0.25926	0.520000	0.34377	7.362000	0.79507	2.704000	0.92352	0.650000	0.86243	CGT		0.398	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		18	71	0	0	0	0	18	71				
TIMM22	29928	broad.mit.edu	37	17	902756	902756	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:902756G>A	ENST00000327158.4	+	3	466	c.440G>A	c.(439-441)cGg>cAg	p.R147Q		NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22 homolog (yeast)	147					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial inner membrane (GO:0045039)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	protein channel activity (GO:0015266)			breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CCACAGTACCGGGGAACATCA	0.488																																						uc002fsc.2		NA																	0					0						c.(439-441)CGG>CAG		translocase of inner mitochondrial membrane 22							280.0	240.0	254.0					17																	902756		2203	4300	6503	SO:0001583	missense	29928				transmembrane transport	integral to membrane|mitochondrial inner membrane	protein transporter activity	g.chr17:902756G>A	AF155330	CCDS32521.1	17p13	2008-02-05	2003-07-22			ENSG00000177370			17317	protein-coding gene	gene with protein product		607251	"""testis-expressed sequence 4"""	TEX4			Standard	NM_013337		Approved		uc002fsc.3	Q9Y584		ENST00000327158.4:c.440G>A	17.37:g.902756G>A	ENSP00000320236:p.Arg147Gln						p.R147Q	NM_013337	NP_037469	Q9Y584	TIM22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	3	466	+			147					Q9NWI8	Missense_Mutation	SNP	ENST00000327158.4	37	c.440G>A	CCDS32521.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885007	0.91814	.	.	ENSG00000177370	ENST00000327158	T	0.48201	0.82	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.77824	0.4188	M	0.93978	3.48	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.83330	-0.0013	10	0.72032	D	0.01	-4.7499	18.739	0.91767	0.0:0.0:1.0:0.0	.	147	Q9Y584	TIM22_HUMAN	Q	147	ENSP00000320236:R147Q	ENSP00000320236:R147Q	R	+	2	0	TIMM22	849506	1.000000	0.71417	1.000000	0.80357	0.508000	0.34012	9.365000	0.97139	2.662000	0.90505	0.655000	0.94253	CGG		0.488	TIMM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450107.2	NM_013337		39	101	0	0	0	0	39	101				
DPH1	1801	broad.mit.edu	37	17	1936810	1936810	+	Missense_Mutation	SNP	C	C	T	rs367898997		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:1936810C>T	ENST00000263083.6	+	2	133	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	DPH1_ENST00000570477.1_5'UTR	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	30					cell proliferation (GO:0008283)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						TCGGGCCCCTCGGGGCCGCGT	0.572																																						uc002fts.2		NA																	0				pancreas(1)	1						c.(88-90)CGG>TGG		diptheria toxin resistance protein required for		C	TRP/ARG	3,3675		0,3,1836	57.0	62.0	60.0		88	2.3	0.4	17		60	0,8152		0,0,4076	no	missense	DPH1	NM_001383.3	101	0,3,5912	TT,TC,CC		0.0,0.0816,0.0254	probably-damaging	30/444	1936810	3,11827	1839	4076	5915	SO:0001583	missense	1801				peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus		g.chr17:1936810C>T	S81752	CCDS42228.1	17p13.3	2013-05-02	2013-05-02	2005-06-03	ENSG00000108963	ENSG00000108963			3003	protein-coding gene	gene with protein product	"""ovarian tumor suppressor candidate 1"""	603527	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae)"", ""DPH-like 1 (S. cerevisiae)"", ""DPH1 homolog (S. cerevisiae)"""	DPH2L, DPH2L1		8603384, 15485916, 22869748	Standard	NM_001383		Approved	OVCA1	uc002fts.3	Q9BZG8	OTTHUMG00000177724	ENST00000263083.6:c.88C>T	17.37:g.1936810C>T	ENSP00000263083:p.Arg30Trp					DPH1_uc002ftr.1_RNA|DPH1_uc002ftt.2_Missense_Mutation_p.R25W|DPH1_uc010cjx.2_5'UTR|DPH1_uc010vqs.1_Missense_Mutation_p.R40W	p.R30W	NM_001383	NP_001374	Q9BZG8	DPH1_HUMAN			2	106	+			30					D3DTI3|Q16439|Q4VBA2|Q9BTW7|Q9UCY0	Missense_Mutation	SNP	ENST00000263083.6	37	c.88C>T	CCDS42228.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.311796	0.40895	8.16E-4	0.0	ENSG00000108963	ENST00000263083	T	0.33654	1.4	5.41	2.27	0.28462	.	0.070607	0.56097	D	0.000033	T	0.50871	0.1641	M	0.70275	2.135	0.53688	D	0.999976	D;D;B	0.76494	0.999;0.999;0.002	P;P;B	0.61477	0.889;0.889;0.001	T	0.49143	-0.8970	10	0.87932	D	0	-9.174	8.6758	0.34179	0.2415:0.6841:0.0:0.0744	.	40;40;30	E7ENH3;B4DNK0;Q9BZG8	.;.;DPH1_HUMAN	W	30	ENSP00000263083:R30W	ENSP00000263083:R30W	R	+	1	2	DPH1	1883560	0.997000	0.39634	0.433000	0.26760	0.191000	0.23601	0.896000	0.28377	0.231000	0.21079	-0.262000	0.10625	CGG		0.572	DPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438660.1	NM_001383		27	75	0	0	0	0	27	75				
CLUH	23277	broad.mit.edu	37	17	2597272	2597272	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:2597272G>C	ENST00000570628.2	-	19	3141	c.3036C>G	c.(3034-3036)taC>taG	p.Y1012*	CLUH_ENST00000538975.1_Nonsense_Mutation_p.Y1012*|CLUH_ENST00000435359.1_Nonsense_Mutation_p.Y1012*			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	1012					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											GCATGGCTCCGTAGACGTTGT	0.642																																						uc002fuy.1		NA																	0				breast(2)	2						c.(3034-3036)TAC>TAG		hypothetical protein LOC23277							49.0	64.0	59.0					17																	2597272		2136	4226	6362	SO:0001587	stop_gained	23277						binding	g.chr17:2597272G>C	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.3036C>G	17.37:g.2597272G>C	ENSP00000458986:p.Tyr1012*					KIAA0664_uc002fux.1_Nonsense_Mutation_p.Y945*|KIAA0664_uc010ckc.1_5'UTR	p.Y1012*	NM_015229	NP_056044	O75153	K0664_HUMAN			19	3122	-			1012					Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Nonsense_Mutation	SNP	ENST00000570628.2	37	c.3036C>G	CCDS45572.1	.	.	.	.	.	.	.	.	.	.	g	40	8.416560	0.98801	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	.	.	.	5.66	-1.28	0.09318	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.5882	0.50931	0.5633:0.0:0.4367:0.0	.	.	.	.	X	1012;1013;1012	.	ENSP00000320468:Y1013X	Y	-	3	2	KIAA0664	2544022	0.583000	0.26757	0.997000	0.53966	0.963000	0.63663	-0.129000	0.10515	-0.135000	0.11495	-0.261000	0.10672	TAC		0.642	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		9	29	0	0	0	0	9	29				
TP53	7157	broad.mit.edu	37	17	7578395	7578395	+	Missense_Mutation	SNP	G	G	A	rs587780070		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:7578395G>A	ENST00000269305.4	-	5	724	c.535C>T	c.(535-537)Cat>Tat	p.H179Y	TP53_ENST00000445888.2_Missense_Mutation_p.H179Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.H179Y|TP53_ENST00000359597.4_Missense_Mutation_p.H179Y|TP53_ENST00000413465.2_Missense_Mutation_p.H179Y|TP53_ENST00000455263.2_Missense_Mutation_p.H179Y	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGCGCTCATGGTGGGGGCAG	0.642		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		197	Substitution - Missense(143)|Deletion - In frame(25)|Deletion - Frameshift(19)|Whole gene deletion(8)|Complex - deletion inframe(1)|Complex - compound substitution(1)	p.H179R(99)|p.H179Y(74)|p.H179L(31)|p.H179Q(17)|p.H179N(13)|p.H179D(10)|p.P177_C182delPHHERC(8)|p.0?(7)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.R175_E180delRCPHHE(3)|p.H179fs*68(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(1)	skin(28)|upper_aerodigestive_tract(27)|large_intestine(27)|lung(27)|breast(18)|haematopoietic_and_lymphoid_tissue(11)|oesophagus(11)|central_nervous_system(8)|ovary(8)|stomach(7)|liver(7)|bone(5)|urinary_tract(3)|soft_tissue(2)|pancreas(2)|cervix(1)|vulva(1)|eye(1)|kidney(1)|endometrium(1)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM067054	TP53	M		c.(535-537)CAT>TAT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							47.0	47.0	47.0					17																	7578395		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578395G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.535C>T	17.37:g.7578395G>A	ENSP00000269305:p.His179Tyr	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.H179Y|TP53_uc002gih.2_Missense_Mutation_p.H179Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H47Y|TP53_uc010cng.1_Missense_Mutation_p.H47Y|TP53_uc002gii.1_Missense_Mutation_p.H47Y|TP53_uc010cnh.1_Missense_Mutation_p.H179Y|TP53_uc010cni.1_Missense_Mutation_p.H179Y|TP53_uc002gij.2_Missense_Mutation_p.H179Y|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H86Y|TP53_uc002gio.2_Missense_Mutation_p.H47Y|TP53_uc010vug.1_Missense_Mutation_p.H140Y	p.H179Y	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	729	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.535C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	32	5.137178	0.94517	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99914	0.9959	M	0.88640	2.97	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.992;1.0;0.989;1.0;0.999;1.0;0.997	D;D;D;D;D;D;D	0.97110	0.953;0.997;0.941;1.0;0.993;0.995;0.958	D	0.96190	0.9137	10	0.87932	D	0	-15.4889	17.4784	0.87667	0.0:0.0:1.0:0.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179Y;ENSP00000352610:H179Y;ENSP00000269305:H179Y;ENSP00000398846:H179Y;ENSP00000391127:H179Y;ENSP00000391478:H179Y;ENSP00000425104:H47Y;ENSP00000423862:H86Y	ENSP00000269305:H179Y	H	-	1	0	TP53	7519120	1.000000	0.71417	0.990000	0.47175	0.864000	0.49448	9.813000	0.99286	2.804000	0.96469	0.655000	0.94253	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		31	29	0	0	0	0	31	29				
CCDC144A	9720	broad.mit.edu	37	17	16638738	16638738	+	Silent	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:16638738G>A	ENST00000360524.8	+	12	3229	c.3153G>A	c.(3151-3153)ttG>ttA	p.L1051L	CCDC144A_ENST00000399273.1_Silent_p.L1051L|CCDC144A_ENST00000443444.2_Silent_p.L1051L|CCDC144A_ENST00000456009.1_Silent_p.L771L|RP11-219A15.1_ENST00000448331.3_Silent_p.L1051L	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	1051																	AAAATATGTTGCTTCGACAGC	0.378																																						uc002gqk.1		NA																	0					0						c.(3151-3153)TTG>TTA		coiled-coil domain containing 144A							44.0	41.0	42.0					17																	16638738		1851	4096	5947	SO:0001819	synonymous_variant	9720							g.chr17:16638738G>A	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.3153G>A	17.37:g.16638738G>A						CCDC144A_uc002gql.1_Silent_p.L521L|LOC162632_uc010cpj.1_RNA	p.L1051L	NM_014695	NP_055510	A2RUR9	C144A_HUMAN			12	3229	+			1051			Potential.		O60311|Q6ZU57	Silent	SNP	ENST00000360524.8	37	c.3153G>A	CCDS45621.1	.	.	.	.	.	.	.	.	.	.	.	0.021	-1.427899	0.01117	.	.	ENSG00000170160	ENST00000328495	.	.	.	2.08	2.08	0.27032	.	.	.	.	.	T	0.58921	0.2156	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56007	-0.8050	4	.	.	.	.	9.8235	0.40896	0.0:0.0:1.0:0.0	.	.	.	.	Y	535	.	.	C	+	2	0	CCDC144A	16579463	1.000000	0.71417	0.622000	0.29159	0.015000	0.08874	1.922000	0.40045	1.153000	0.42468	0.393000	0.25936	TGC		0.378	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			10	26	0	0	0	0	10	26				
NMT1	4836	broad.mit.edu	37	17	43180413	43180413	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:43180413C>T	ENST00000592782.1	+	10	1219	c.1088C>T	c.(1087-1089)aCg>aTg	p.T363M	NMT1_ENST00000258960.2_Missense_Mutation_p.T363M			P30419	NMT1_HUMAN	N-myristoyltransferase 1	363					apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				TTTCACCTTACGCCCGTCATG	0.547																																						uc002ihz.2		NA																	0					0						c.(1087-1089)ACG>ATG		N-myristoyltransferase 1							159.0	148.0	151.0					17																	43180413		2203	4300	6503	SO:0001583	missense	4836				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity	g.chr17:43180413C>T		CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448			7857	protein-coding gene	gene with protein product	"""alternative, short form NMT-S"", ""myristoyl-CoA:protein N-myristoyltransferase"", ""long form, NMT-L"""	160993				1570339	Standard	NM_021079		Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.1088C>T	17.37:g.43180413C>T	ENSP00000468424:p.Thr363Met					NMT1_uc002iia.2_RNA|NMT1_uc010dad.1_Missense_Mutation_p.T23M	p.T363M	NM_021079	NP_066565	P30419	NMT1_HUMAN			9	1106	+		Prostate(33;0.155)	363					A8K7C1|Q9UE09	Missense_Mutation	SNP	ENST00000592782.1	37	c.1088C>T	CCDS11494.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023630	0.75390	.	.	ENSG00000136448	ENST00000258960	T	0.44083	0.93	5.17	4.18	0.49190	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, C-terminal (1);	0.121733	0.64402	D	0.000014	T	0.53981	0.1830	L	0.39898	1.24	0.37451	D	0.914813	D;D	0.89917	1.0;1.0	D;D	0.72338	0.969;0.977	T	0.60999	-0.7151	10	0.72032	D	0.01	-16.0729	14.2781	0.66194	0.0:0.927:0.0:0.073	.	30;363	A4FU65;P30419	.;NMT1_HUMAN	M	363	ENSP00000258960:T363M	ENSP00000258960:T363M	T	+	2	0	NMT1	40535939	0.976000	0.34144	1.000000	0.80357	0.991000	0.79684	2.404000	0.44539	2.687000	0.91594	0.655000	0.94253	ACG		0.547	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449239.1	NM_021079		23	70	0	0	0	0	23	70				
SPPL2C	162540	broad.mit.edu	37	17	43923892	43923892	+	Silent	SNP	C	C	T	rs140347532	byFrequency	TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:43923892C>T	ENST00000329196.5	+	1	1637	c.1620C>T	c.(1618-1620)gcC>gcT	p.A540A	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000581125.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	540						endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)										TCGGCTGTGCCCCTTCAGCTG	0.642																																						uc010wka.1		NA																	0				pancreas(2)	2						c.(1618-1620)GCC>GCT		intramembrane protease 5 precursor		C		1,4403		0,1,2201	37.0	39.0	38.0		1620	-1.0	0.0	17	dbSNP_134	38	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	IMP5	NM_175882.2		0,4,6498	TT,TC,CC		0.0349,0.0227,0.0308		540/685	43923892	4,13000	2202	4300	6502	SO:0001819	synonymous_variant	162540					integral to membrane	aspartic-type endopeptidase activity	g.chr17:43923892C>T		CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"""intramembrane protease 5"""	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.1620C>T	17.37:g.43923892C>T						LOC100128977_uc010wjz.1_Intron	p.A540A	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.148)	1	1620	+	Colorectal(2;0.0416)		540			Extracellular (Potential).		Q8TC67|Q8WVZ6	Silent	SNP	ENST00000329196.5	37	c.1620C>T	CCDS32673.1																																																																																				0.642	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441156.1	NM_175882		27	49	0	0	0	0	27	49				
MAPT	4137	broad.mit.edu	37	17	44060865	44060865	+	Missense_Mutation	SNP	C	C	A	rs563636373		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:44060865C>A	ENST00000571987.1	+	5	695	c.695C>A	c.(694-696)tCc>tAc	p.S232Y	MAPT_ENST00000574436.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000344290.5_Missense_Mutation_p.S232Y|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.S232Y|MAPT_ENST00000262410.5_Missense_Mutation_p.S232Y|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000570299.1_Intron			P10636	TAU_HUMAN	microtubule-associated protein tau	232					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	CCCCAAGACTCCCCTCCCTCC	0.692																																						uc002ijr.3		NA																	0				pancreas(1)	1						c.(694-696)TCC>TAC		microtubule-associated protein tau isoform 1							33.0	22.0	26.0					17																	44060865		2187	4271	6458	SO:0001583	missense	4137				cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	g.chr17:44060865C>A	J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.695C>A	17.37:g.44060865C>A	ENSP00000458742:p.Ser232Tyr					MAPT_uc010dau.2_Missense_Mutation_p.S232Y|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron	p.S232Y	NM_016835	NP_058519	P10636	TAU_HUMAN			6	1015	+		Melanoma(429;0.216)	232					P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Missense_Mutation	SNP	ENST00000571987.1	37	c.695C>A	CCDS11501.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657241	0.47467	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000415613	T;T;T	0.18657	2.22;2.2;2.22	5.26	4.22	0.49857	.	0.000000	0.41294	D	0.000901	T	0.39384	0.1076	L	0.56769	1.78	0.25012	N	0.991398	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.991	T	0.08186	-1.0734	10	0.72032	D	0.01	-15.3543	10.3133	0.43721	0.1964:0.8036:0.0:0.0	.	232;232	P10636-9;P10636	.;TAU_HUMAN	Y	232	ENSP00000340820:S232Y;ENSP00000262410:S232Y;ENSP00000410838:S232Y	ENSP00000262410:S232Y	S	+	2	0	MAPT	41416702	0.074000	0.21230	0.713000	0.30519	0.329000	0.28539	1.627000	0.37050	2.464000	0.83262	0.561000	0.74099	TCC		0.692	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835		23	19	1	0	1.23e-08	1.96e-08	23	19				
PCTP	58488	broad.mit.edu	37	17	53848541	53848541	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:53848541A>G	ENST00000268896.5	+	3	459	c.334A>G	c.(334-336)Aga>Gga	p.R112G	PCTP_ENST00000576221.1_3'UTR|PCTP_ENST00000576183.1_Missense_Mutation_p.R112G|PCTP_ENST00000573500.1_Missense_Mutation_p.R112G|PCTP_ENST00000325214.6_Missense_Mutation_p.R40G	NM_021213.3	NP_067036.2	Q9UKL6	PPCT_HUMAN	phosphatidylcholine transfer protein	112	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|phospholipid transport (GO:0015914)	cytosol (GO:0005829)	phosphatidylcholine binding (GO:0031210)|phosphatidylcholine transporter activity (GO:0008525)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10			BRCA - Breast invasive adenocarcinoma(1;0.00207)			CATGTCCAACAGAGACGTATC	0.453																																						uc002iul.3		NA																	0				lung(1)	1						c.(334-336)AGA>GGA		phosphatidylcholine transfer protein isoform 1							165.0	143.0	151.0					17																	53848541		2203	4300	6503	SO:0001583	missense	58488					cytosol	phosphatidylcholine binding|phosphatidylcholine transmembrane transporter activity	g.chr17:53848541A>G	AK024667	CCDS11588.1, CCDS45741.1	17q21-q24	2011-09-13				ENSG00000141179		"""StAR-related lipid transfer (START) domain containing"""	8752	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 2"""	606055					Standard	NM_021213		Approved	STARD2	uc002iul.4	Q9UKL6		ENST00000268896.5:c.334A>G	17.37:g.53848541A>G	ENSP00000268896:p.Arg112Gly					PCTP_uc002ium.3_Missense_Mutation_p.R40G|PCTP_uc010dcg.2_Intron|PCTP_uc010dch.2_RNA	p.R112G	NM_021213	NP_067036	Q9UKL6	PPCT_HUMAN	BRCA - Breast invasive adenocarcinoma(1;0.00207)		3	443	+			112			START.		Q9BSC9|Q9UIT3|Q9UKW7	Missense_Mutation	SNP	ENST00000268896.5	37	c.334A>G	CCDS11588.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.920569	0.73213	.	.	ENSG00000141179	ENST00000268896;ENST00000417982;ENST00000325214	T;T	0.75477	-0.94;-0.94	5.19	2.79	0.32731	Lipid-binding START (3);START-like domain (1);	0.000000	0.85682	D	0.000000	D	0.86834	0.6028	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87223	0.2255	10	0.87932	D	0	-11.6341	9.2129	0.37328	0.6126:0.3873:0.0:0.0	.	112	Q9UKL6	PPCT_HUMAN	G	112;40;91	ENSP00000268896:R112G;ENSP00000415185:R40G	ENSP00000268896:R112G	R	+	1	2	PCTP	51203540	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.022000	0.41030	0.914000	0.36822	0.379000	0.24179	AGA		0.453	PCTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439271.2	NM_021213		25	61	0	0	0	0	25	61				
ACTG1	71	broad.mit.edu	37	17	79478626	79478626	+	Silent	SNP	C	C	A	rs561518636	byFrequency	TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:79478626C>A	ENST00000575842.1	-	3	816	c.390G>T	c.(388-390)ccG>ccT	p.P130P	ACTG1_ENST00000575087.1_Silent_p.P130P|ACTG1_ENST00000573283.1_Silent_p.P130P|RP13-766D20.2_ENST00000430912.1_RNA|AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000331925.2_Silent_p.P130P			P63261	ACTG_HUMAN	actin, gamma 1	130					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CGTACATGGCCGGGGTGTTGA	0.612																																						uc002kaj.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(388-390)CCG>CCT		actin, gamma 1 propeptide							67.0	72.0	70.0					17																	79478626		2203	4300	6503	SO:0001819	synonymous_variant	71				adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding	g.chr17:79478626C>A		CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"""deafness, autosomal dominant 20; deafness, autosomal dominant 26"""	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.390G>T	17.37:g.79478626C>A						ACTG1_uc002kah.1_Silent_p.P8P|ACTG1_uc002kai.1_Silent_p.P87P|ACTG1_uc002kak.1_Silent_p.P130P|ACTG1_uc010wun.1_Silent_p.P130P|ACTG1_uc002kal.1_Silent_p.P130P|ACTG1_uc002kag.2_RNA	p.P130P	NM_001614	NP_001605	P63261	ACTG_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)		3	415	-	all_neural(118;0.0878)|Melanoma(429;0.242)		130					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Silent	SNP	ENST00000575842.1	37	c.390G>T	CCDS11782.1																																																																																				0.612	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439935.2	NM_001614		43	79	1	0	1.03e-14	1.7e-14	43	79				
CHMP1B	57132	broad.mit.edu	37	18	11851736	11851736	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr18:11851736G>T	ENST00000526991.2	+	1	342	c.226G>T	c.(226-228)Gct>Tct	p.A76S	GNAL_ENST00000269162.5_Intron|GNAL_ENST00000423027.3_Intron|GNAL_ENST00000535121.1_Intron|GNAL_ENST00000334049.6_Intron|RP11-78A19.3_ENST00000586474.1_RNA	NM_020412.4	NP_065145.2	Q7LBR1	CHM1B_HUMAN	charged multivesicular body protein 1B	76					cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|protein transport (GO:0015031)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein domain specific binding (GO:0019904)			endometrium(1)|lung(1)|urinary_tract(1)	3						CGATGCAGTGGCTGCCAGGGT	0.552																																						uc002kqe.2		NA																	0					0						c.(226-228)GCT>TCT		chromatin modifying protein 1B							95.0	107.0	103.0					18																	11851736		2165	4261	6426	SO:0001583	missense	57132				cell cycle|cell division|protein transport	cytosol|late endosome membrane	protein domain specific binding	g.chr18:11851736G>T	AF306520	CCDS54180.1	18p11.21	2011-09-21	2011-09-21		ENSG00000255112	ENSG00000255112		"""Charged multivesicular body proteins"""	24287	protein-coding gene	gene with protein product		606486	"""chromatin modifying protein 1B"""			15537668	Standard	NM_020412		Approved	CHMP1.5, C18orf2, Vps46B	uc002kqe.3	Q7LBR1	OTTHUMG00000165820	ENST00000526991.2:c.226G>T	18.37:g.11851736G>T	ENSP00000432279:p.Ala76Ser					GNAL_uc002kqc.2_Intron|GNAL_uc010dkz.2_Intron|GNAL_uc002kqd.2_Intron	p.A76S	NM_020412	NP_065145	Q7LBR1	CHM1B_HUMAN			1	348	+			76					Q96E89|Q9HD41	Missense_Mutation	SNP	ENST00000526991.2	37	c.226G>T	CCDS54180.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582947	0.65992	.	.	ENSG00000255112	ENST00000526991	T	0.71817	-0.6	5.6	5.6	0.85130	.	.	.	.	.	T	0.71384	0.3333	L	0.56199	1.76	0.80722	D	1	B	0.23185	0.081	B	0.33121	0.158	T	0.67692	-0.5605	9	0.48119	T	0.1	.	17.4938	0.87712	0.0:0.0:1.0:0.0	.	76	Q7LBR1	CHM1B_HUMAN	S	76	ENSP00000432279:A76S	ENSP00000432279:A76S	A	+	1	0	CHMP1B	11841736	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	9.476000	0.97823	2.805000	0.96524	0.655000	0.94253	GCT		0.552	CHMP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386375.2	NM_020412		42	100	1	0	3.77e-16	6.27e-16	42	100				
HMHA1	23526	broad.mit.edu	37	19	1084297	1084297	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:1084297G>A	ENST00000313093.2	+	22	3247	c.3016G>A	c.(3016-3018)Gag>Aag	p.E1006K	HMHA1_ENST00000590214.1_Missense_Mutation_p.E1033K|HMHA1_ENST00000586866.1_Missense_Mutation_p.E1010K|HMHA1_ENST00000536472.1_Missense_Mutation_p.E874K|HMHA1_ENST00000590577.1_Missense_Mutation_p.E641K|HMHA1_ENST00000539243.2_Missense_Mutation_p.E1022K|HMHA1_ENST00000543365.1_Missense_Mutation_p.E889K|HMHA1_ENST00000591169.1_3'UTR	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	1006					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGGCGGGCGAGGCGGTGGT	0.687																																						uc002lqz.1		NA																	0				lung(1)	1						c.(3016-3018)GAG>AAG		minor histocompatibility antigen HA-1							52.0	54.0	53.0					19																	1084297		2203	4294	6497	SO:0001583	missense	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1084297G>A	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.3016G>A	19.37:g.1084297G>A	ENSP00000316772:p.Glu1006Lys					HMHA1_uc010xgd.1_Missense_Mutation_p.E1022K|HMHA1_uc010xge.1_Missense_Mutation_p.E874K|HMHA1_uc002lra.1_Missense_Mutation_p.E846K|HMHA1_uc002lrb.1_Missense_Mutation_p.E889K|HMHA1_uc002lrc.1_Missense_Mutation_p.E641K|HMHA1_uc002lrd.1_Missense_Mutation_p.E82K|HMHA1_uc010dsd.1_Missense_Mutation_p.E112K	p.E1006K	NM_012292	NP_036424	Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	22	3247	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	1006					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	37	c.3016G>A	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	G	6.135	0.393087	0.11638	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.21932	2.02;2.04;2.02;1.98	3.85	1.6	0.23607	.	1.281560	0.05837	N	0.618602	T	0.15609	0.0376	L	0.40543	1.245	0.09310	N	1	B;B;B;B;B;B	0.21381	0.055;0.055;0.033;0.001;0.055;0.019	B;B;B;B;B;B	0.10450	0.005;0.005;0.002;0.002;0.005;0.002	T	0.34179	-0.9839	10	0.08381	T	0.77	-3.2296	6.8237	0.23870	0.2324:0.0:0.7676:0.0	.	874;1022;888;641;889;1006	F5H4A3;F6QP70;B3KXW7;B3KVA9;F5H1R4;Q92619	.;.;.;.;.;HMHA1_HUMAN	K	1022;1006;874;1000;889	ENSP00000439601:E1022K;ENSP00000316772:E1006K;ENSP00000445109:E874K;ENSP00000438979:E889K	ENSP00000316772:E1006K	E	+	1	0	HMHA1	1035297	0.590000	0.26815	0.000000	0.03702	0.010000	0.07245	1.452000	0.35156	0.227000	0.20999	-0.258000	0.10820	GAG		0.687	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			39	65	0	0	0	0	39	65				
SBNO2	22904	broad.mit.edu	37	19	1105487	1105487	+	IGR	SNP	C	C	T	rs367564504		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:1105487C>T	ENST00000361757.3	-	0	4922				GPX4_ENST00000589115.1_Missense_Mutation_p.P101L|GPX4_ENST00000354171.8_Missense_Mutation_p.P101L	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)						bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGCCTTCCCGTGTAACCAG	0.667																																						uc010xgg.1		NA																	0					0						c.(301-303)CCG>CTG		glutathione peroxidase 4 isoform A precursor	Glutathione(DB00143)						47.0	49.0	49.0					19																	1105487		2034	4162	6196	SO:0001628	intergenic_variant	2879				multicellular organismal development|phospholipid metabolic process		glutathione peroxidase activity|phospholipid-hydroperoxide glutathione peroxidase activity	g.chr19:1105487C>T	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9			19.37:g.1105487C>T						GPX4_uc010xgh.1_Missense_Mutation_p.P101L|GPX4_uc010xgi.1_Missense_Mutation_p.P138L	p.P101L	NM_002085	NP_002076	P36969	GPX4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	409	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	101					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	ENST00000361757.3	37	c.302C>T	CCDS45894.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961262	0.92791	.	.	ENSG00000167468	ENST00000354171	T	0.25085	1.82	3.93	3.93	0.45458	Thioredoxin-like fold (2);	0.000000	0.64402	U	0.000017	T	0.67795	0.2931	H	0.98918	4.37	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	T	0.82526	-0.0413	10	0.87932	D	0	.	14.6838	0.69035	0.0:1.0:0.0:0.0	.	74;101;101	P36969-2;Q6PI42;P36969	.;.;GPX4_HUMAN	L	101	ENSP00000346103:P101L	ENSP00000346103:P101L	P	+	2	0	GPX4	1056487	1.000000	0.71417	0.996000	0.52242	0.943000	0.58893	4.418000	0.59828	2.018000	0.59344	0.655000	0.94253	CCG		0.667	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		15	42	0	0	0	0	15	42				
CLEC4M	10332	broad.mit.edu	37	19	7831597	7831597	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:7831597C>G	ENST00000327325.5	+	5	958	c.840C>G	c.(838-840)taC>taG	p.Y280*	CLEC4M_ENST00000595496.1_Nonsense_Mutation_p.Y144*|CLEC4M_ENST00000334806.5_Nonsense_Mutation_p.Y229*|CLEC4M_ENST00000597522.1_Nonsense_Mutation_p.Y188*|CLEC4M_ENST00000248228.4_Nonsense_Mutation_p.Y258*|CLEC4M_ENST00000394122.2_Nonsense_Mutation_p.Y268*|CLEC4M_ENST00000596707.1_Nonsense_Mutation_p.Y213*|CLEC4M_ENST00000357361.2_Nonsense_Mutation_p.Y280*|CLEC4M_ENST00000596363.1_Nonsense_Mutation_p.Y252*|CLEC4M_ENST00000359059.5_Nonsense_Mutation_p.Y213*	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	280	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						GAAACTGTTACTTCATGTCTA	0.577																																						uc002mih.2		NA																	0				pancreas(1)	1						c.(769-771)TAC>TAG		C-type lectin domain family 4, member M isoform							113.0	103.0	107.0					19																	7831597		2203	4300	6503	SO:0001587	stop_gained	10332				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	g.chr19:7831597C>G	AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"""C-type lectin domain containing"", ""CD molecules"""	13523	protein-coding gene	gene with protein product		605872	"""CD299 antigen"""	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.840C>G	19.37:g.7831597C>G	ENSP00000316228:p.Tyr280*					CLEC4M_uc010xjv.1_3'UTR|CLEC4M_uc002mhy.2_3'UTR|CLEC4M_uc010xjw.1_Nonsense_Mutation_p.Y213*|CLEC4M_uc010dvt.2_Nonsense_Mutation_p.Y234*|CLEC4M_uc010dvs.2_Nonsense_Mutation_p.Y256*|CLEC4M_uc010xjx.1_Nonsense_Mutation_p.Y229*|CLEC4M_uc002mhz.2_Nonsense_Mutation_p.Y188*|CLEC4M_uc002mic.2_Nonsense_Mutation_p.Y252*|CLEC4M_uc002mia.2_Nonsense_Mutation_p.Y144*	p.Y257*	NM_001144910	NP_001138382	Q9H2X3	CLC4M_HUMAN			6	889	+			280			Extracellular (Probable).|C-type lectin.		A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Nonsense_Mutation	SNP	ENST00000327325.5	37	c.771C>G	CCDS12187.1	.	.	.	.	.	.	.	.	.	.	C	32	5.128743	0.94473	.	.	ENSG00000104938	ENST00000327325;ENST00000394122;ENST00000248228;ENST00000334806;ENST00000359059;ENST00000357361;ENST00000358690	.	.	.	2.57	0.289	0.15723	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.6127	0.17414	0.0:0.7152:0.0:0.2848	.	.	.	.	X	280;268;258;229;213;280;224	.	ENSP00000248228:Y258X	Y	+	3	2	CLEC4M	7737597	0.038000	0.19896	0.599000	0.28851	0.640000	0.38277	0.239000	0.18023	0.135000	0.18707	-0.347000	0.07816	TAC		0.577	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1	NM_014257		17	75	0	0	0	0	17	75				
COL5A3	50509	broad.mit.edu	37	19	10090691	10090691	+	Silent	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:10090691G>A	ENST00000264828.3	-	36	2722	c.2637C>T	c.(2635-2637)ttC>ttT	p.F879F		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	879	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TTGGCCCAGGGAATCCTGGAG	0.612																																						uc002mmq.1		NA																	0				ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10						c.(2635-2637)TTC>TTT		collagen, type V, alpha 3 preproprotein							46.0	42.0	43.0					19																	10090691		2203	4300	6503	SO:0001819	synonymous_variant	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10090691G>A	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2637C>T	19.37:g.10090691G>A							p.F879F	NM_015719	NP_056534	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		36	2723	-			879			Triple-helical region.		Q9NZQ6	Silent	SNP	ENST00000264828.3	37	c.2637C>T	CCDS12222.1																																																																																				0.612	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		9	26	0	0	0	0	9	26				
DNM2	1785	broad.mit.edu	37	19	10923011	10923011	+	Silent	SNP	T	T	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:10923011T>C	ENST00000355667.6	+	15	1709	c.1629T>C	c.(1627-1629)ttT>ttC	p.F543F	DNM2_ENST00000314646.5_Silent_p.F543F|DNM2_ENST00000389253.4_Silent_p.F543F|DNM2_ENST00000408974.4_Silent_p.F539F|DNM2_ENST00000359692.6_Silent_p.F539F|DNM2_ENST00000585892.1_Silent_p.F543F	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	543	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			AGTACTGGTTTGTGCTGACTG	0.622			"""F, N, Splice, Mis, O"""		ETP ALL																																	uc002mps.1		NA		Rec	yes		19	19p13.2	1785		dynamin 2			L					0				central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6						c.(1627-1629)TTT>TTC		dynamin 2 isoform 2							98.0	65.0	76.0					19																	10923011		2202	4297	6499	SO:0001819	synonymous_variant	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10923011T>C		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1629T>C	19.37:g.10923011T>C						DNM2_uc010dxk.2_Intron|DNM2_uc002mpt.1_Silent_p.F543F|DNM2_uc002mpv.1_Silent_p.F539F|DNM2_uc002mpu.1_Silent_p.F539F|DNM2_uc010dxl.1_Silent_p.F543F|DNM2_uc002mpw.2_Silent_p.F272F	p.F543F	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		15	1793	+			543			PH.		A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Silent	SNP	ENST00000355667.6	37	c.1629T>C	CCDS45968.1																																																																																				0.622	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		3	14	0	0	0	0	3	14				
NOTCH3	4854	broad.mit.edu	37	19	15299887	15299887	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:15299887C>T	ENST00000263388.2	-	8	1366	c.1291G>A	c.(1291-1293)Gat>Aat	p.D431N		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	431	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TCGTTGACATCGGTCTCACAG	0.642																																						uc002nan.2		NA																	0				lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21						c.(1291-1293)GAT>AAT		Notch homolog 3 precursor							53.0	44.0	47.0					19																	15299887		2203	4300	6503	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15299887C>T	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.1291G>A	19.37:g.15299887C>T	ENSP00000263388:p.Asp431Asn					NOTCH3_uc002nao.1_Missense_Mutation_p.D431N	p.D431N	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		8	1367	-			431			Extracellular (Potential).|EGF-like 11; calcium-binding (Potential).		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.1291G>A	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691168	0.68271	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.99051	-5.37	4.77	4.77	0.60923	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.98273	0.9428	L	0.27975	0.815	0.58432	D	0.999999	P;D	0.65815	0.944;0.995	B;D	0.69307	0.38;0.963	D	0.97854	1.0276	9	0.18710	T	0.47	.	16.582	0.84717	0.0:1.0:0.0:0.0	.	434;431	Q59FL3;Q9UM47	.;NOTC3_HUMAN	N	431;433	ENSP00000263388:D431N	ENSP00000263388:D431N	D	-	1	0	NOTCH3	15160887	1.000000	0.71417	0.784000	0.31847	0.759000	0.43091	7.323000	0.79105	2.202000	0.70862	0.561000	0.74099	GAT		0.642	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		24	39	0	0	0	0	24	39				
C19orf44	84167	broad.mit.edu	37	19	16613911	16613911	+	Silent	SNP	C	C	T	rs200951543		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:16613911C>T	ENST00000221671.3	+	3	951	c.795C>T	c.(793-795)agC>agT	p.S265S	C19orf44_ENST00000594035.1_Silent_p.S265S|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	265										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						CTGTACCCAGCGTGGAACTCT	0.443																																						uc002neh.1		NA																	0					0						c.(793-795)AGC>AGT		hypothetical protein LOC84167		C		0,4406		0,0,2203	84.0	80.0	81.0		795	-8.4	0.0	19		81	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	C19orf44	NM_032207.2		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		265/658	16613911	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	84167							g.chr19:16613911C>T	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.795C>T	19.37:g.16613911C>T						MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Silent_p.S265S|C19orf44_uc002neg.2_Silent_p.S265S|C19orf44_uc010eai.1_RNA	p.S265S	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN			3	868	+			265					Q8N6Y7	Silent	SNP	ENST00000221671.3	37	c.795C>T	CCDS12345.1																																																																																				0.443	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		34	60	0	0	0	0	34	60				
ZNF90	7643	broad.mit.edu	37	19	20229606	20229606	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:20229606C>G	ENST00000418063.2	+	4	1355	c.1243C>G	c.(1243-1245)Cat>Gat	p.H415D	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	415					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|lung(2)|ovary(1)|skin(1)	5						ACTTACTATACATAAGATAAG	0.373																																						uc002nor.2		NA																	0				ovary(1)|skin(1)	2						c.(1243-1245)CAT>GAT		zinc finger protein 90							43.0	41.0	41.0					19																	20229606		692	1591	2283	SO:0001583	missense	7643					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20229606C>G	M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"""Zinc fingers, C2H2-type"", ""-"""	13165	protein-coding gene	gene with protein product		603973	"""zinc finger protein 90 (HTF9)"""			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.1243C>G	19.37:g.20229606C>G	ENSP00000410466:p.His415Asp					ZNF90_uc002nos.1_Intron|ZNF90_uc002not.1_Intron	p.H415D	NM_007138	NP_009069	Q03938	ZNF90_HUMAN			4	1382	+			415			C2H2-type 9.		B9EH87	Missense_Mutation	SNP	ENST00000418063.2	37	c.1243C>G	CCDS46028.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.373906	0.42105	.	.	ENSG00000213988	ENST00000418063	D	0.86769	-2.17	1.12	1.12	0.20585	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95133	0.8423	H	0.98559	4.265	0.34341	D	0.688799	D	0.89917	1.0	D	0.97110	1.0	D	0.93836	0.7132	8	.	.	.	.	7.4594	0.27285	0.0:1.0:0.0:0.0	.	415	Q03938	ZNF90_HUMAN	D	415	ENSP00000410466:H415D	.	H	+	1	0	ZNF90	20090606	0.008000	0.16893	0.012000	0.15200	0.012000	0.07955	1.187000	0.32090	0.283000	0.22279	0.289000	0.19496	CAT		0.373	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350101.1	NM_007138		7	10	0	0	0	0	7	10				
RBM42	79171	broad.mit.edu	37	19	36120554	36120554	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:36120554C>G	ENST00000262633.4	+	2	366	c.261C>G	c.(259-261)atC>atG	p.I87M	RBM42_ENST00000592202.1_Missense_Mutation_p.I87M|RBM42_ENST00000588161.1_Missense_Mutation_p.I87M|RBM42_ENST00000586618.1_Missense_Mutation_p.I87M|RBM42_ENST00000589559.1_Missense_Mutation_p.I87M|RBM42_ENST00000589871.1_Missense_Mutation_p.I87M|RBM42_ENST00000360475.4_Missense_Mutation_p.I87M	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	87						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCCCAATTATCGCGACCAACA	0.567																																						uc002oan.2		NA																	0					0						c.(259-261)ATC>ATG		RNA binding motif protein 42							76.0	69.0	72.0					19																	36120554		2203	4300	6503	SO:0001583	missense	79171					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:36120554C>G	BC004204	CCDS12468.1	19q13.12	2013-02-12				ENSG00000126254		"""RNA binding motif (RRM) containing"""	28117	protein-coding gene	gene with protein product		613232				12477932	Standard	NM_024321		Approved	MGC10433	uc002oan.3	Q9BTD8		ENST00000262633.4:c.261C>G	19.37:g.36120554C>G	ENSP00000262633:p.Ile87Met					RBM42_uc010xsx.1_Missense_Mutation_p.I87M|RBM42_uc010eef.2_Missense_Mutation_p.I87M|RBM42_uc002oao.2_Missense_Mutation_p.I87M|RBM42_uc002oap.2_Missense_Mutation_p.I87M|RBM42_uc002oaq.2_Missense_Mutation_p.I87M|RBM42_uc010eeg.2_Missense_Mutation_p.I87M	p.I87M	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	337	+	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		87					O00320|Q8N5R7|Q9BU66	Missense_Mutation	SNP	ENST00000262633.4	37	c.261C>G	CCDS12468.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791793	0.70452	.	.	ENSG00000126254	ENST00000262633;ENST00000360475	T;T	0.21031	2.22;2.03	4.34	-0.319	0.12725	.	0.000000	0.85682	D	0.000000	T	0.32133	0.0819	L	0.49778	1.585	0.42210	D	0.991806	D;D;D;D;D	0.76494	0.995;0.999;0.999;0.999;0.992	D;D;D;D;D	0.81914	0.987;0.995;0.995;0.995;0.971	T	0.06789	-1.0807	10	0.87932	D	0	-8.4368	6.4907	0.22113	0.0:0.43:0.0:0.57	.	87;87;87;87;87	B4DWT0;Q9BTD8-4;Q9BTD8-3;Q9BTD8-2;Q9BTD8	.;.;.;.;RBM42_HUMAN	M	87	ENSP00000262633:I87M;ENSP00000353663:I87M	ENSP00000262633:I87M	I	+	3	3	RBM42	40812394	0.097000	0.21791	0.998000	0.56505	0.866000	0.49608	-0.770000	0.04705	0.136000	0.18733	0.561000	0.74099	ATC		0.567	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459057.2	NM_024321		14	63	0	0	0	0	14	63				
RINL	126432	broad.mit.edu	37	19	39361379	39361379	+	Silent	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:39361379G>A	ENST00000591812.1	-	8	941	c.855C>T	c.(853-855)atC>atT	p.I285I	RINL_ENST00000598904.1_Silent_p.I171I|CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000602238.1_Intron|RINL_ENST00000340740.3_Silent_p.I171I			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	285					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.I171I(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						AATCTGAGGCGATGCGCACCC	0.647																																						uc002ojq.2		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(511-513)ATC>ATT		Ras and Rab interactor-like							49.0	44.0	46.0					19																	39361379		2203	4300	6503	SO:0001819	synonymous_variant	126432						GTPase activator activity	g.chr19:39361379G>A	AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994			24795	protein-coding gene	gene with protein product							Standard	NM_001195833		Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.855C>T	19.37:g.39361379G>A						RINL_uc002ojr.1_5'Flank|RINL_uc010xuo.1_Silent_p.I285I	p.I171I	NM_198445	NP_940847	Q6ZS11	RINL_HUMAN			8	901	-			171					B4DPG5	Silent	SNP	ENST00000591812.1	37	c.513C>T	CCDS59386.1																																																																																				0.647	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460433.1	NM_198445		14	31	0	0	0	0	14	31				
GALP	85569	broad.mit.edu	37	19	56688559	56688559	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:56688559C>T	ENST00000357330.2	+	2	164	c.82C>T	c.(82-84)Cac>Tac	p.H28Y	GALP_ENST00000440823.1_Missense_Mutation_p.H28Y|GALP_ENST00000590002.1_Missense_Mutation_p.H28Y	NM_033106.3	NP_149097.1	Q9UBC7	GALP_HUMAN	galanin-like peptide	28					behavioral response to starvation (GO:0042595)|defense response to bacterium (GO:0042742)|neuropeptide signaling pathway (GO:0007218)|regulation of appetite (GO:0032098)|response to insulin (GO:0032868)	extracellular region (GO:0005576)				lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		CGCACCTGCCCACCGGGTAAC	0.587																																						uc002qmo.1		NA																	0					0						c.(82-84)CAC>TAC		galanin-like peptide isoform 1 precursor							56.0	38.0	44.0					19																	56688559		2203	4300	6503	SO:0001583	missense	85569				neuropeptide signaling pathway	extracellular region	hormone activity	g.chr19:56688559C>T	AF188493	CCDS12940.1, CCDS46202.1	19q13.42	2013-02-26	2007-08-24			ENSG00000197487		"""Endogenous ligands"""	24840	protein-coding gene	gene with protein product		611178				10601261	Standard	NM_033106		Approved		uc002qmo.1	Q9UBC7		ENST00000357330.2:c.82C>T	19.37:g.56688559C>T	ENSP00000349884:p.His28Tyr					GALP_uc010eti.2_Missense_Mutation_p.H28Y	p.H28Y	NM_033106	NP_149097	Q9UBC7	GALP_HUMAN		GBM - Glioblastoma multiforme(193;0.0507)	2	164	+		Colorectal(82;0.000147)|Ovarian(87;0.243)	28					A1KXL3	Missense_Mutation	SNP	ENST00000357330.2	37	c.82C>T	CCDS12940.1	.	.	.	.	.	.	.	.	.	.	C	6.243	0.412999	0.11812	.	.	ENSG00000197487	ENST00000357330;ENST00000440823	T	0.47869	0.83	2.43	2.43	0.29744	.	.	.	.	.	T	0.51787	0.1695	L	0.29908	0.895	0.09310	N	1	D;D	0.62365	0.991;0.985	D;P	0.65573	0.936;0.865	T	0.33904	-0.9850	9	0.87932	D	0	.	8.8876	0.35414	0.0:1.0:0.0:0.0	.	28;28	Q9UBC7-2;Q9UBC7	.;GALP_HUMAN	Y	28	ENSP00000349884:H28Y	ENSP00000349884:H28Y	H	+	1	0	GALP	61380371	0.002000	0.14202	0.043000	0.18650	0.090000	0.18270	1.652000	0.37313	1.302000	0.44855	0.491000	0.48974	CAC		0.587	GALP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457832.1	NM_033106		4	19	0	0	0	0	4	19				
DNAJC5G	285126	broad.mit.edu	37	2	27499677	27499677	+	Silent	SNP	C	C	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr2:27499677C>A	ENST00000296097.3	+	3	499	c.81C>A	c.(79-81)ggC>ggA	p.G27G	DNAJC5G_ENST00000402462.1_Silent_p.G27G|SLC30A3_ENST00000447008.2_5'Flank|DNAJC5G_ENST00000406962.1_Silent_p.G27G|DNAJC5G_ENST00000404433.1_Silent_p.G27G	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	27	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					membrane (GO:0016020)				cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTAAGAAGGGCGCCTCACCTG	0.463																																						uc002rjl.1		NA																	0				skin(1)	1						c.(79-81)GGC>GGA		DnaJ (Hsp40) homolog, subfamily C, member 5							80.0	81.0	81.0					2																	27499677		2203	4300	6503	SO:0001819	synonymous_variant	285126				protein folding	membrane	heat shock protein binding|unfolded protein binding	g.chr2:27499677C>A	AF368277	CCDS1744.1	2p23	2011-09-02			ENSG00000163793	ENSG00000163793		"""Heat shock proteins / DNAJ (HSP40)"""	24844	protein-coding gene	gene with protein product		613946					Standard	NM_173650		Approved	FLJ40417, CSP-gamma	uc002rjl.1	Q8N7S2	OTTHUMG00000097079	ENST00000296097.3:c.81C>A	2.37:g.27499677C>A						SLC30A3_uc010ylh.1_5'Flank|DNAJC5G_uc010yli.1_Silent_p.G27G|DNAJC5G_uc002rjm.1_Silent_p.G27G	p.G27G	NM_173650	NP_775921	Q8N7S2	DNJ5G_HUMAN			3	499	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		27			J.		B4DY29|Q53SY5|Q8IYQ4|Q96RJ8	Silent	SNP	ENST00000296097.3	37	c.81C>A	CCDS1744.1																																																																																				0.463	DNAJC5G-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214200.1	NM_173650		20	21	1	0	1.02e-10	1.66e-10	20	21				
PRKCE	5581	broad.mit.edu	37	2	46378288	46378288	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr2:46378288G>T	ENST00000306156.3	+	13	2167	c.1840G>T	c.(1840-1842)Gac>Tac	p.D614Y		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	614	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	CAATGAGGACGACCTATTTGA	0.587																																						uc002rut.2		NA																	0				lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1)	10						c.(1840-1842)GAC>TAC		protein kinase C, epsilon							81.0	76.0	78.0					2																	46378288		2068	4077	6145	SO:0001583	missense	5581				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity	g.chr2:46378288G>T		CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.1840G>T	2.37:g.46378288G>T	ENSP00000306124:p.Asp614Tyr						p.D614Y	NM_005400	NP_005391	Q02156	KPCE_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.171)		13	2037	+		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	614			Protein kinase.		B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Missense_Mutation	SNP	ENST00000306156.3	37	c.1840G>T	CCDS1824.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.957105	0.92726	.	.	ENSG00000171132	ENST00000306156	T	0.65364	-0.15	5.38	5.38	0.77491	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	0.81814	0.4902	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83771	0.0220	10	0.87932	D	0	.	19.3311	0.94288	0.0:0.0:1.0:0.0	.	614	Q02156	KPCE_HUMAN	Y	614	ENSP00000306124:D614Y	ENSP00000306124:D614Y	D	+	1	0	PRKCE	46231792	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	9.657000	0.98554	2.813000	0.96785	0.655000	0.94253	GAC		0.587	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250751.2			10	36	1	0	3.86e-05	5.95e-05	10	36				
LRRTM4	80059	broad.mit.edu	37	2	77745481	77745481	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr2:77745481G>T	ENST00000409093.1	-	3	1850	c.1514C>A	c.(1513-1515)cCc>cAc	p.P505H	LRRTM4_ENST00000409884.1_Missense_Mutation_p.P505H|LRRTM4_ENST00000409282.1_Missense_Mutation_p.P506H|LRRTM4_ENST00000409911.1_Missense_Mutation_p.P506H|LRRTM4_ENST00000409088.3_Missense_Mutation_p.P505H			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	505					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		ATATGTGCAGGGCCCAGATCC	0.443																																						uc002snr.2		NA																	0				pancreas(3)|ovary(1)	4						c.(1513-1515)CCC>CAC		leucine rich repeat transmembrane neuronal 4							79.0	79.0	79.0					2																	77745481		1888	4122	6010	SO:0001583	missense	80059					integral to membrane		g.chr2:77745481G>T	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1514C>A	2.37:g.77745481G>T	ENSP00000386357:p.Pro505His					LRRTM4_uc002snq.2_Missense_Mutation_p.P505H|LRRTM4_uc002sns.2_Missense_Mutation_p.P505H|LRRTM4_uc002snt.2_Missense_Mutation_p.P506H	p.P505H	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1929	-			505			Cytoplasmic (Potential).		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.1514C>A	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.375895	0.61735	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.53206	0.63;0.66;0.66;0.78;0.79	5.54	5.54	0.83059	.	0.056437	0.64402	D	0.000001	T	0.68329	0.2989	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.979;0.991;0.979	T	0.70749	-0.4787	10	0.87932	D	0	.	18.0311	0.89285	0.0:0.0:1.0:0.0	.	506;505;505	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	H	506;505;505;505;506	ENSP00000387228:P506H;ENSP00000387297:P505H;ENSP00000386357:P505H;ENSP00000386236:P505H;ENSP00000386286:P506H	ENSP00000386236:P505H	P	-	2	0	LRRTM4	77598989	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.859000	0.99545	2.592000	0.87571	0.551000	0.68910	CCC		0.443	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		12	23	1	0	2.81e-09	4.5e-09	12	23				
LRP1B	53353	broad.mit.edu	37	2	141294273	141294273	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr2:141294273T>C	ENST00000389484.3	-	46	8490	c.7519A>G	c.(7519-7521)Aat>Gat	p.N2507D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2507					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGGAGGAATTTTTAGCTGCA	0.328										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(7519-7521)AAT>GAT		low density lipoprotein-related protein 1B							57.0	55.0	56.0					2																	141294273		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141294273T>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7519A>G	2.37:g.141294273T>C	ENSP00000374135:p.Asn2507Asp	TSP Lung(27;0.18)					p.N2507D	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	46	8491	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2507			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.7519A>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.397017	0.83120	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90261	-2.64	5.3	5.3	0.74995	.	0.062472	0.64402	D	0.000008	D	0.92074	0.7488	M	0.72624	2.21	0.43214	D	0.995088	D	0.54964	0.969	P	0.53809	0.735	D	0.90153	0.4222	10	0.12766	T	0.61	.	15.2535	0.73568	0.0:0.0:0.0:1.0	.	2507	Q9NZR2	LRP1B_HUMAN	D	2507;2445	ENSP00000374135:N2507D	ENSP00000374135:N2507D	N	-	1	0	LRP1B	141010743	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	7.945000	0.87732	2.015000	0.59207	0.528000	0.53228	AAT		0.328	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		5	33	0	0	0	0	5	33				
LRP1B	53353	broad.mit.edu	37	2	141571249	141571249	+	Missense_Mutation	SNP	T	T	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr2:141571249T>G	ENST00000389484.3	-	32	6307	c.5336A>C	c.(5335-5337)aAa>aCa	p.K1779T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1779					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGCTGTAGCTTTTGTTAATTC	0.358										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(5335-5337)AAA>ACA		low density lipoprotein-related protein 1B							174.0	154.0	161.0					2																	141571249		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141571249T>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5336A>C	2.37:g.141571249T>G	ENSP00000374135:p.Lys1779Thr	TSP Lung(27;0.18)					p.K1779T	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	32	6308	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1779			Extracellular (Potential).|LDL-receptor class B 17.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.5336A>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.152972	0.78001	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90900	-2.75	5.83	5.83	0.93111	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.93903	0.8049	L	0.55834	1.745	0.58432	D	0.999995	D	0.76494	0.999	D	0.80764	0.994	D	0.93949	0.7230	10	0.52906	T	0.07	.	16.1982	0.82046	0.0:0.0:0.0:1.0	.	1779	Q9NZR2	LRP1B_HUMAN	T	1779;1717	ENSP00000374135:K1779T	ENSP00000374135:K1779T	K	-	2	0	LRP1B	141287719	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.231000	0.72307	2.226000	0.72624	0.533000	0.62120	AAA		0.358	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		22	35	0	0	0	0	22	35				
XIRP2	129446	broad.mit.edu	37	2	168102128	168102128	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr2:168102128G>A	ENST00000409195.1	+	9	4315	c.4226G>A	c.(4225-4227)aGt>aAt	p.S1409N	XIRP2_ENST00000409273.1_Missense_Mutation_p.S1187N|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S1409N	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1234					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATTATGCCCAGTATTGACCAT	0.343																																						uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(4225-4227)AGT>AAT		xin actin-binding repeat containing 2 isoform 1							61.0	56.0	57.0					2																	168102128		1830	4091	5921	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168102128G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.4226G>A	2.37:g.168102128G>A	ENSP00000386840:p.Ser1409Asn					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.S1234N|XIRP2_uc010fpq.2_Missense_Mutation_p.S1187N|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.S1409N	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	4244	+			1234					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.4226G>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	5.832	0.337777	0.11013	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02552	4.25;4.25;4.25	5.67	3.84	0.44239	.	0.293767	0.35936	N	0.002882	T	0.03564	0.0102	L	0.32530	0.975	0.23277	N	0.99799	B;B;B	0.20459	0.011;0.019;0.045	B;B;B	0.18561	0.01;0.022;0.022	T	0.33445	-0.9868	10	0.52906	T	0.07	-4.8589	15.2586	0.73603	0.0:0.7307:0.2693:0.0	.	1234;1234;1187	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	N	1409;1409;1187	ENSP00000386840:S1409N;ENSP00000295237:S1409N;ENSP00000387255:S1187N	ENSP00000295237:S1409N	S	+	2	0	XIRP2	167810374	1.000000	0.71417	0.070000	0.20053	0.008000	0.06430	4.648000	0.61425	0.720000	0.32209	-0.232000	0.12228	AGT		0.343	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		5	36	0	0	0	0	5	36				
ABI2	10152	broad.mit.edu	37	2	204291988	204291988	+	Missense_Mutation	SNP	C	C	G	rs370907556		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr2:204291988C>G	ENST00000422511.2	+	11	1387	c.1356C>G	c.(1354-1356)gaC>gaG	p.D452E	ABI2_ENST00000430418.1_Missense_Mutation_p.D430E|ABI2_ENST00000261018.7_Missense_Mutation_p.D271E|ABI2_ENST00000261016.6_Missense_Mutation_p.D373E|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000295851.5_Missense_Mutation_p.D485E|ABI2_ENST00000424558.1_Missense_Mutation_p.D479E|ABI2_ENST00000261017.5_Missense_Mutation_p.D447E			Q9NYB9	ABI2_HUMAN	abl-interactor 2	485	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin polymerization or depolymerization (GO:0008154)|cell migration (GO:0016477)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|Rac protein signal transduction (GO:0016601)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	cytoskeletal adaptor activity (GO:0008093)|DNA binding (GO:0003677)|kinase binding (GO:0019900)|proline-rich region binding (GO:0070064)|protein complex binding (GO:0032403)|SH3 domain binding (GO:0017124)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						AGAAGAATGACGATGGTTGGT	0.423																																						uc002vaa.2		NA																	0					0						c.(1453-1455)GAC>GAG		abl interactor 2							189.0	158.0	169.0					2																	204291988		2203	4300	6503	SO:0001583	missense	10152				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding	g.chr2:204291988C>G	AF260261	CCDS2358.1, CCDS63093.1, CCDS63094.1, CCDS74634.1	2q33	2010-09-20	2009-07-23		ENSG00000138443	ENSG00000138443			24011	protein-coding gene	gene with protein product		606442				7590236, 10964520	Standard	XM_005246217		Approved	ABI-2, AIP-1, ABI2B, AblBP3, argBPIA, SSH3BP2	uc002uzz.3	Q9NYB9	OTTHUMG00000132879	ENST00000422511.2:c.1356C>G	2.37:g.204291988C>G	ENSP00000396249:p.Asp452Glu					ABI2_uc002uzz.2_Missense_Mutation_p.D447E|ABI2_uc010zih.1_Missense_Mutation_p.D133E|ABI2_uc010zii.1_Missense_Mutation_p.D479E|ABI2_uc010zij.1_Missense_Mutation_p.D362E|ABI2_uc002vab.2_Missense_Mutation_p.D373E|ABI2_uc010zik.1_Missense_Mutation_p.D210E|ABI2_uc010zil.1_Missense_Mutation_p.D349E|ABI2_uc010zim.1_Missense_Mutation_p.D298E|ABI2_uc002vac.2_Missense_Mutation_p.D271E|ABI2_uc010zin.1_Missense_Mutation_p.D162E	p.D485E	NM_005759	NP_005750	Q9NYB9	ABI2_HUMAN			11	1690	+			485			SH3.		B4DSN1|Q13147|Q13249|Q13801|Q9BV70	Missense_Mutation	SNP	ENST00000422511.2	37	c.1455C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.9|20.9	4.071133|4.071133	0.76301|0.76301	.|.	.|.	ENSG00000138443|ENSG00000138443	ENST00000295851;ENST00000261017;ENST00000430418;ENST00000424558;ENST00000261016;ENST00000417864;ENST00000422511;ENST00000261018|ENST00000454023	T;T;T;T;T;T;T;T|.	0.33865|.	1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39|.	6.03|6.03	-1.47|-1.47	0.08772|0.08772	Src homology-3 domain (5);|.	0.041188|.	0.85682|.	D|.	0.000000|.	T|T	0.34658|0.34658	0.0905|0.0905	N|N	0.11724|0.11724	0.165|0.165	0.80722|0.80722	D|D	1|1	P;P;B;B;D;D;B;D;B|.	0.69078|.	0.87;0.783;0.203;0.024;0.996;0.997;0.043;0.997;0.101|.	P;P;B;B;D;D;B;D;B|.	0.80764|.	0.797;0.474;0.243;0.053;0.989;0.993;0.016;0.994;0.077|.	T|T	0.07481|0.07481	-1.0770|-1.0770	10|5	0.87932|.	D|.	0|.	-17.5227|-17.5227	11.7949|11.7949	0.52093|0.52093	0.0:0.3509:0.0:0.6491|0.0:0.3509:0.0:0.6491	.|.	298;349;210;362;479;430;373;485;447|.	B7Z5L1;B7Z612;B4DMM5;B7Z836;Q9NYB9-4;E9PEZ7;Q9NYB9-3;Q9NYB9;Q9NYB9-2|.	.;.;.;.;.;.;.;ABI2_HUMAN;.|.	E|R	485;447;430;479;373;485;452;271|265	ENSP00000295851:D485E;ENSP00000261017:D447E;ENSP00000408898:D430E;ENSP00000391433:D479E;ENSP00000261016:D373E;ENSP00000414703:D485E;ENSP00000396249:D452E;ENSP00000261018:D271E|.	ENSP00000261016:D373E|.	D|T	+|+	3|2	2|0	ABI2|ABI2	204000233|204000233	0.459000|0.459000	0.25768|0.25768	0.994000|0.994000	0.49952|0.49952	0.998000|0.998000	0.95712|0.95712	-0.267000|-0.267000	0.08619|0.08619	-0.163000|-0.163000	0.10946|0.10946	0.655000|0.655000	0.94253|0.94253	GAC|ACG		0.423	ABI2-007	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000336179.2	NM_005759		17	29	0	0	0	0	17	29				
RAPH1	65059	broad.mit.edu	37	2	204305402	204305402	+	Silent	SNP	C	C	G	rs144494517	byFrequency	TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr2:204305402C>G	ENST00000319170.5	-	14	2810	c.2511G>C	c.(2509-2511)ccG>ccC	p.P837P	RAPH1_ENST00000374493.3_Silent_p.P889P|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000295851.5_3'UTR	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	837					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTAATGTTGGCGGGGGTACTG	0.582																																						uc002vad.2		NA																	0				ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1)	10						c.(2509-2511)CCG>CCC		Ras association and pleckstrin homology domains							44.0	52.0	50.0					2																	204305402		2202	4300	6502	SO:0001819	synonymous_variant	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204305402C>G	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.2511G>C	2.37:g.204305402C>G							p.P837P	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN			14	2736	-			837					Q96Q37|Q9C0I2	Silent	SNP	ENST00000319170.5	37	c.2511G>C	CCDS2359.1																																																																																				0.582	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		6	78	0	0	0	0	6	78				
WNT10A	80326	broad.mit.edu	37	2	219747032	219747032	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr2:219747032G>A	ENST00000258411.3	+	2	896	c.263G>A	c.(262-264)gGc>gAc	p.G88D		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	88					cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|epidermis morphogenesis (GO:0048730)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|neural crest cell differentiation (GO:0014033)|neuron differentiation (GO:0030182)|odontogenesis (GO:0042476)|positive regulation of gene expression (GO:0010628)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sebaceous gland development (GO:0048733)|skin development (GO:0043588)|tongue development (GO:0043586)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCATACAGGGCATCCAGATC	0.582																																						uc002vjd.1		NA																	0				lung(1)|skin(1)	2						c.(262-264)GGC>GAC		wingless-type MMTV integration site family,							98.0	90.0	93.0					2																	219747032		2203	4300	6503	SO:0001583	missense	80326				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr2:219747032G>A	AB059569	CCDS2426.1	2q35	2008-05-23			ENSG00000135925	ENSG00000135925		"""Wingless-type MMTV integration sites"""	13829	protein-coding gene	gene with protein product		606268				11350055, 17847007	Standard	NM_025216		Approved		uc002vjd.1	Q9GZT5	OTTHUMG00000133085	ENST00000258411.3:c.263G>A	2.37:g.219747032G>A	ENSP00000258411:p.Gly88Asp						p.G88D	NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	726	+		Renal(207;0.0474)	88					Q53S44|Q96TA7|Q9H7S8	Missense_Mutation	SNP	ENST00000258411.3	37	c.263G>A	CCDS2426.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885903	0.91814	.	.	ENSG00000135925	ENST00000258411	D	0.83591	-1.74	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.94231	0.8148	H	0.96861	3.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96297	0.9218	10	0.87932	D	0	.	16.8977	0.86105	0.0:0.0:1.0:0.0	.	88	Q9GZT5	WN10A_HUMAN	D	88	ENSP00000258411:G88D	ENSP00000258411:G88D	G	+	2	0	WNT10A	219455276	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.389000	0.97243	2.230000	0.72887	0.462000	0.41574	GGC		0.582	WNT10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256730.2	NM_025216		25	65	0	0	0	0	25	65				
NMUR1	10316	broad.mit.edu	37	2	232393435	232393435	+	Silent	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr2:232393435G>C	ENST00000305141.4	-	2	430	c.297C>G	c.(295-297)ctC>ctG	p.L99L		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	99					activation of phospholipase C activity (GO:0007202)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|chloride transport (GO:0006821)|G-protein coupled receptor signaling pathway (GO:0007186)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|smooth muscle contraction (GO:0006939)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuromedin U receptor activity (GO:0001607)|neuropeptide receptor activity (GO:0008188)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CCAGGCTGAAGAGGTAGTAGT	0.622																																						uc002vry.3		NA																	0				lung(3)|central_nervous_system(1)|pancreas(1)	5						c.(295-297)CTC>CTG		neuromedin U receptor 1							91.0	93.0	92.0					2																	232393435		2203	4300	6503	SO:0001819	synonymous_variant	10316				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity	g.chr2:232393435G>C	AF044600	CCDS2486.1	2q37.1	2012-08-08	2004-05-27	2004-05-28	ENSG00000171596	ENSG00000171596		"""GPCR / Class A : Neuromedin U receptors"""	4518	protein-coding gene	gene with protein product		604153	"""G protein-coupled receptor 66"""	GPR66		9782091	Standard	NM_006056		Approved	GPC-R, FM-3, NMU1R	uc002vry.4	Q9HB89	OTTHUMG00000133225	ENST00000305141.4:c.297C>G	2.37:g.232393435G>C							p.L99L	NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	2	407	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)	99			Helical; Name=2; (Potential).		O43664|Q7LDP6|Q8NE20	Silent	SNP	ENST00000305141.4	37	c.297C>G	CCDS2486.1																																																																																				0.622	NMUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256961.1	NM_006056		38	71	0	0	0	0	38	71				
DGKD	8527	broad.mit.edu	37	2	234368410	234368410	+	Missense_Mutation	SNP	C	C	T	rs200836252	byFrequency	TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr2:234368410C>T	ENST00000264057.2	+	23	2714	c.2702C>T	c.(2701-2703)aCg>aTg	p.T901M	DGKD_ENST00000409813.3_Missense_Mutation_p.T857M	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	901					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	CAGTGTCGCACGGTGAAGATC	0.562													C|||	4	0.000798722	0.0	0.0	5008	,	,		17258	0.004		0.0	False		,,,				2504	0.0					uc002vui.1		NA																	0				central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5						c.(2701-2703)ACG>ATG		diacylglycerol kinase, delta 130kDa isoform 2	Phosphatidylserine(DB00144)						87.0	73.0	78.0					2																	234368410		2203	4300	6503	SO:0001583	missense	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234368410C>T	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.2702C>T	2.37:g.234368410C>T	ENSP00000264057:p.Thr901Met					DGKD_uc002vuj.1_Missense_Mutation_p.T857M|DGKD_uc010fyi.1_RNA	p.T901M	NM_152879	NP_690618	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	23	2714	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	901					Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	37	c.2702C>T	CCDS2504.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	18.66	3.672374	0.67928	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	T;T	0.31247	1.5;1.5	4.35	4.35	0.52113	Diacylglycerol kinase, accessory domain (2);	0.065563	0.64402	D	0.000011	T	0.53769	0.1817	M	0.69358	2.11	0.41851	D	0.990178	D;P	0.89917	1.0;0.946	D;P	0.70016	0.967;0.582	T	0.58532	-0.7620	10	0.59425	D	0.04	.	17.4273	0.87529	0.0:1.0:0.0:0.0	.	857;901	Q16760-2;Q16760	.;DGKD_HUMAN	M	901;857	ENSP00000264057:T901M;ENSP00000386455:T857M	ENSP00000264057:T901M	T	+	2	0	DGKD	234033149	1.000000	0.71417	0.950000	0.38849	0.793000	0.44817	4.580000	0.60942	2.442000	0.82660	0.462000	0.41574	ACG		0.562	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		14	32	0	0	0	0	14	32				
ESF1	51575	broad.mit.edu	37	20	13763380	13763380	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr20:13763380C>T	ENST00000202816.1	-	2	514	c.407G>A	c.(406-408)gGa>gAa	p.G136E	NDUFAF5_ENST00000463598.1_5'Flank|NDUFAF5_ENST00000378106.5_5'Flank	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	136	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G136A(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TTTTTTAATTCCTATAGAATT	0.264																																						uc002woj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(406-408)GGA>GAA		ABT1-associated protein							32.0	34.0	34.0					20																	13763380		2174	4269	6443	SO:0001583	missense	51575				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		g.chr20:13763380C>T		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 6"""	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.407G>A	20.37:g.13763380C>T	ENSP00000202816:p.Gly136Glu					ESF1_uc002wok.1_Missense_Mutation_p.G136E|C20orf7_uc002wol.1_5'Flank|C20orf7_uc002wom.2_5'Flank|C20orf7_uc002won.2_5'Flank|C20orf7_uc002woo.2_5'Flank	p.G136E	NM_016649	NP_057733	Q9H501	ESF1_HUMAN			2	515	-			136			Lys-rich.		Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Missense_Mutation	SNP	ENST00000202816.1	37	c.407G>A	CCDS13117.1	.	.	.	.	.	.	.	.	.	.	C	3.685	-0.064638	0.07273	.	.	ENSG00000089048	ENST00000202816	T	0.20200	2.09	4.96	0.138	0.14793	.	0.691749	0.14253	N	0.331289	T	0.08268	0.0206	N	0.14661	0.345	0.09310	N	1	B	0.20887	0.049	B	0.19666	0.026	T	0.39187	-0.9626	10	0.02654	T	1	.	5.3888	0.16231	0.1389:0.5226:0.0:0.3385	.	136	Q9H501	ESF1_HUMAN	E	136	ENSP00000202816:G136E	ENSP00000202816:G136E	G	-	2	0	ESF1	13711380	0.000000	0.05858	0.544000	0.28141	0.360000	0.29518	-1.335000	0.02662	0.131000	0.18576	0.591000	0.81541	GGA		0.264	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		5	24	0	0	0	0	5	24				
SNX5	27131	broad.mit.edu	37	20	17932146	17932146	+	Missense_Mutation	SNP	T	T	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr20:17932146T>G	ENST00000377768.3	-	7	919	c.607A>C	c.(607-609)Aag>Cag	p.K203Q	SNX5_ENST00000377759.4_Missense_Mutation_p.K203Q|SNX5_ENST00000483485.1_5'UTR	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	203	BAR.				intracellular protein transport (GO:0006886)|pinocytosis (GO:0006907)	cytoplasmic vesicle (GO:0031410)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|extrinsic component of endosome membrane (GO:0031313)|macropinocytic cup (GO:0070685)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						TCACTTACCTTAACTCCAGTA	0.363																																						uc002wqc.2		NA																	0				large_intestine(1)	1						c.(607-609)AAG>CAG		sorting nexin 5							92.0	88.0	89.0					20																	17932146		2203	4300	6503	SO:0001583	missense	27131				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding	g.chr20:17932146T>G	AF121855	CCDS13130.1	20p11	2008-05-22			ENSG00000089006	ENSG00000089006		"""Sorting nexins"""	14969	protein-coding gene	gene with protein product		605937				10600472, 17148574	Standard	NM_152227		Approved		uc002wqc.3	Q9Y5X3	OTTHUMG00000031953	ENST00000377768.3:c.607A>C	20.37:g.17932146T>G	ENSP00000366998:p.Lys203Gln					SNX5_uc002wqb.2_RNA|SNX5_uc002wqd.2_Missense_Mutation_p.K203Q|SNX5_uc002wqe.2_Missense_Mutation_p.K98Q|SNX5_uc010zrt.1_Missense_Mutation_p.K203Q	p.K203Q	NM_014426	NP_055241	Q9Y5X3	SNX5_HUMAN			6	693	-			203			BAR.		B7ZKN3|D3DW26|Q52LC4|Q7KZN0|Q9BWP0	Missense_Mutation	SNP	ENST00000377768.3	37	c.607A>C	CCDS13130.1	.	.	.	.	.	.	.	.	.	.	T	32	5.137209	0.94517	.	.	ENSG00000089006	ENST00000377768;ENST00000377759;ENST00000431277;ENST00000419004	T;T;T;T	0.61392	0.11;0.11;1.5;1.57	5.54	5.54	0.83059	Vps5 C-terminal (1);	0.094583	0.64402	D	0.000001	T	0.78572	0.4304	M	0.86178	2.8	0.80722	D	1	D;D	0.62365	0.991;0.985	D;P	0.74674	0.984;0.863	T	0.82273	-0.0539	10	0.72032	D	0.01	.	16.0395	0.80654	0.0:0.0:0.0:1.0	.	224;203	B7Z476;Q9Y5X3	.;SNX5_HUMAN	Q	203;203;166;168	ENSP00000366998:K203Q;ENSP00000366988:K203Q;ENSP00000404448:K166Q;ENSP00000406731:K168Q	ENSP00000366988:K203Q	K	-	1	0	SNX5	17880146	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.991000	0.88244	2.236000	0.73375	0.529000	0.55759	AAG		0.363	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078137.4			17	24	0	0	0	0	17	24				
CDK5RAP1	51654	broad.mit.edu	37	20	31958354	31958354	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr20:31958354C>G	ENST00000357886.4	-	12	1538	c.1385G>C	c.(1384-1386)cGg>cCg	p.R462P	CDK5RAP1_ENST00000473997.1_Missense_Mutation_p.R358P|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.R371P|CDK5RAP1_ENST00000544843.1_Intron|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.R448P			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	462					brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)	p.R448L(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						CTGAACTTCCCGGAGCAAAGA	0.537																																						uc010gek.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|lung(1)	5						c.(1384-1386)CGG>CCG		CDK5 regulatory subunit associated protein 1							257.0	216.0	230.0					20																	31958354		2203	4300	6503	SO:0001583	missense	51654				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	g.chr20:31958354C>G	AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"""chromosome 20 open reading frame 34"""	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.1385G>C	20.37:g.31958354C>G	ENSP00000350558:p.Arg462Pro					CDK5RAP1_uc002wyy.2_Missense_Mutation_p.R358P|CDK5RAP1_uc002wyz.2_Missense_Mutation_p.R448P|CDK5RAP1_uc002wza.2_Missense_Mutation_p.R448P|CDK5RAP1_uc010gel.2_Missense_Mutation_p.R357P|CDK5RAP1_uc010gem.2_Missense_Mutation_p.R371P|CDK5RAP1_uc002wzc.1_Missense_Mutation_p.R448P|CDK5RAP1_uc002wzb.1_Missense_Mutation_p.R83P	p.R462P	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN			12	1509	-			462					A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Missense_Mutation	SNP	ENST00000357886.4	37	c.1385G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.4|21.4	4.150252|4.150252	0.78001|0.78001	.|.	.|.	ENSG00000101391|ENSG00000101391	ENST00000427097|ENST00000346416;ENST00000357886;ENST00000339269;ENST00000452723;ENST00000375351	.|T;T;T;T	.|0.23552	.|1.9;1.9;1.9;1.9	5.77|5.77	-0.0174|-0.0174	0.13968|0.13968	.|Elongator protein 3/MiaB/NifB (1);Radical SAM, alpha/beta horseshoe (1);	.|0.162312	.|0.52532	.|D	.|0.000065	T|T	0.54983|0.54983	0.1892|0.1892	H|H	0.95402|0.95402	3.665|3.665	0.80722|0.80722	D|D	1|1	.|P;P;P;D;P;P;P	.|0.71674	.|0.936;0.879;0.74;0.998;0.74;0.831;0.831	.|P;P;P;P;P;P;P	.|0.62184	.|0.676;0.448;0.448;0.899;0.448;0.737;0.526	T|T	0.65911|0.65911	-0.6053|-0.6053	5|10	.|0.72032	.|D	.|0.01	-4.9203|-4.9203	11.1077|11.1077	0.48212|0.48212	0.0:0.6478:0.0:0.3522|0.0:0.6478:0.0:0.3522	.|.	.|371;462;448;188;448;448;358	.|Q96SZ6-4;Q96SZ6;Q675N5;E9PF14;Q53H36;Q96SZ6-3;Q96SZ6-2	.|.;CK5P1_HUMAN;.;.;.;.;.	R|P	117|448;462;371;358;188	.|ENSP00000217372:R448P;ENSP00000350558:R462P;ENSP00000341840:R371P;ENSP00000408133:R358P	.|ENSP00000341840:R371P	G|R	-|-	1|2	0|0	CDK5RAP1|CDK5RAP1	31422015|31422015	0.995000|0.995000	0.38212|0.38212	0.998000|0.998000	0.56505|0.56505	0.977000|0.977000	0.68977|0.68977	0.523000|0.523000	0.22925|0.22925	0.103000|0.103000	0.17682|0.17682	0.561000|0.561000	0.74099|0.74099	GGG|CGG		0.537	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	NM_016408		35	122	0	0	0	0	35	122				
SIK1	150094	broad.mit.edu	37	21	44839014	44839014	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr21:44839014T>A	ENST00000270162.6	-	11	1481	c.1349A>T	c.(1348-1350)cAg>cTg	p.Q450L		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	450					cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	GCCCGGCCCCTGCCTGGCCTC	0.701																																						uc002zdf.2		NA																	0				lung(2)|testis(2)|ovary(1)|central_nervous_system(1)|skin(1)	7						c.(1348-1350)CAG>CTG		salt-inducible kinase 1							14.0	17.0	16.0					21																	44839014		2165	4255	6420	SO:0001583	missense	150094				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr21:44839014T>A	BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"""myocardial SNF1-like kinase"""	605705	"""SNF1-like kinase"""	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.1349A>T	21.37:g.44839014T>A	ENSP00000270162:p.Gln450Leu						p.Q450L	NM_173354	NP_775490	P57059	SIK1_HUMAN			11	1476	-			450					A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Missense_Mutation	SNP	ENST00000270162.6	37	c.1349A>T	CCDS33575.1	.	.	.	.	.	.	.	.	.	.	T	11.54	1.669826	0.29693	.	.	ENSG00000142178	ENST00000270162	T	0.72167	-0.63	4.77	-2.89	0.05665	.	0.347459	0.30959	N	0.008532	T	0.55970	0.1954	M	0.63428	1.95	0.36264	D	0.854746	B	0.26672	0.156	B	0.23852	0.049	T	0.28870	-1.0030	10	0.29301	T	0.29	.	3.7296	0.08488	0.1285:0.0731:0.4004:0.398	.	450	P57059	SIK1_HUMAN	L	450	ENSP00000270162:Q450L	ENSP00000270162:Q450L	Q	-	2	0	SIK1	43663442	0.978000	0.34361	0.149000	0.22428	0.350000	0.29205	1.742000	0.38248	-0.877000	0.04012	-0.488000	0.04728	CAG		0.701	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195654.1	NM_173354		5	6	0	0	0	0	5	6				
HIRA	7290	broad.mit.edu	37	22	19398284	19398284	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr22:19398284C>T	ENST00000263208.5	-	2	311	c.55G>A	c.(55-57)Gtt>Att	p.V19I	HIRA_ENST00000546308.1_5'UTR|HIRA_ENST00000340170.4_Missense_Mutation_p.V19I|HIRA_ENST00000464189.1_5'UTR|HIRA_ENST00000541063.1_5'UTR	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	19					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TGAATATCAACTGAAAAAATC	0.383																																						uc002zpf.1		NA																	0				ovary(1)	1						c.(55-57)GTT>ATT		HIR histone cell cycle regulation defective							195.0	202.0	200.0					22																	19398284		2203	4300	6503	SO:0001583	missense	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19398284C>T	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.55G>A	22.37:g.19398284C>T	ENSP00000263208:p.Val19Ile					HIRA_uc011agx.1_5'UTR|HIRA_uc010grn.1_Missense_Mutation_p.V19I|HIRA_uc010gro.1_5'UTR|HIRA_uc010grp.2_RNA	p.V19I	NM_003325	NP_003316	P54198	HIRA_HUMAN			2	275	-	Colorectal(54;0.0993)		19			WD 1.		Q05BU9|Q8IXN2	Missense_Mutation	SNP	ENST00000263208.5	37	c.55G>A	CCDS13759.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650378	0.29336	.	.	ENSG00000100084	ENST00000340170;ENST00000263208	D;T	0.82167	-1.58;-0.18	4.49	3.47	0.39725	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.79924	0.4530	N	0.16201	0.385	0.80722	D	1	P;B	0.47910	0.902;0.246	P;B	0.61722	0.893;0.184	T	0.74487	-0.3649	10	0.14252	T	0.57	-7.3075	13.1383	0.59421	0.0:0.9216:0.0:0.0784	.	19;19	P54198-2;P54198	.;HIRA_HUMAN	I	19	ENSP00000345350:V19I;ENSP00000263208:V19I	ENSP00000263208:V19I	V	-	1	0	HIRA	17778284	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.295000	0.51794	1.238000	0.43771	0.655000	0.94253	GTT		0.383	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		49	157	0	0	0	0	49	157				
CSNK1E	1454	broad.mit.edu	37	22	38694868	38694868	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr22:38694868G>A	ENST00000396832.1	-	7	1068	c.808C>T	c.(808-810)Cgt>Tgt	p.R270C	CSNK1E_ENST00000359867.3_Missense_Mutation_p.R270C|CSNK1E_ENST00000405675.3_Missense_Mutation_p.R270C|CSNK1E_ENST00000403904.1_Missense_Mutation_p.R270C|CSNK1E_ENST00000413574.2_Missense_Mutation_p.R270C|CSNK1E_ENST00000498529.1_5'UTR|CSNK1E_ENST00000400206.2_Missense_Mutation_p.R270C	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	270	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein localization (GO:0034613)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					AAGAGCTGACGTAGGTAAGAG	0.542											OREG0026559	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(119;108 755 9651 12170 13692 17603 24932 28315 37982 41601)	uc003avj.2		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(808-810)CGT>TGT		casein kinase 1 epsilon							196.0	180.0	186.0					22																	38694868		2203	4300	6503	SO:0001583	missense	1454				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr22:38694868G>A		CCDS13970.1	22q13.1	2013-01-17			ENSG00000213923	ENSG00000213923			2453	protein-coding gene	gene with protein product		600863				7797465, 10535959	Standard	NM_001894		Approved	HCKIE, CKIE, CKIepsilon	uc003avk.3	P49674	OTTHUMG00000151135	ENST00000396832.1:c.808C>T	22.37:g.38694868G>A	ENSP00000380044:p.Arg270Cys		OREG0026559	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	880	CSNK1E_uc003avk.2_Missense_Mutation_p.R270C|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_Missense_Mutation_p.R270C|CSNK1E_uc003avo.2_Missense_Mutation_p.R270C|CSNK1E_uc003avp.1_Missense_Mutation_p.R270C|CSNK1E_uc003avq.1_Missense_Mutation_p.R270C	p.R270C	NM_152221	NP_689407	P49674	KC1E_HUMAN			7	1069	-	Melanoma(58;0.045)		270			Protein kinase.			Missense_Mutation	SNP	ENST00000396832.1	37	c.808C>T	CCDS13970.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.601682	0.66445	.	.	ENSG00000213923	ENST00000359867;ENST00000396832;ENST00000402865;ENST00000400206;ENST00000403904;ENST00000413574;ENST00000405675	T;T;T;T;T;T	0.10382	2.88;2.88;2.88;2.88;2.88;2.88	4.95	1.29	0.21616	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.114438	0.56097	D	0.000025	T	0.42810	0.1219	H	0.95260	3.645	0.80722	D	1	D;D;D	0.89917	0.993;1.0;1.0	P;D;D	0.83275	0.76;0.995;0.996	T	0.64884	-0.6302	10	0.87932	D	0	.	14.0026	0.64442	0.0:0.0:0.4972:0.5028	.	270;270;270	B0QY35;B0QY34;P49674	.;.;KC1E_HUMAN	C	270	ENSP00000352929:R270C;ENSP00000380044:R270C;ENSP00000383067:R270C;ENSP00000384074:R270C;ENSP00000407235:R270C;ENSP00000384426:R270C	ENSP00000352929:R270C	R	-	1	0	CSNK1E	37024814	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.290000	0.33319	1.066000	0.40716	0.655000	0.94253	CGT		0.542	CSNK1E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321462.1	NM_001894		30	98	0	0	0	0	30	98				
L3MBTL2	83746	broad.mit.edu	37	22	41626178	41626178	+	Missense_Mutation	SNP	G	G	T	rs377610001		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr22:41626178G>T	ENST00000216237.5	+	17	2199	c.2041G>T	c.(2041-2043)Gtg>Ttg	p.V681L	CHADL_ENST00000216241.9_Intron	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	681					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCATCTAGACGTGGCCTCGCC	0.607																																						uc003azo.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2041-2043)GTG>TTG		l(3)mbt-like 2							81.0	70.0	74.0					22																	41626178		2203	4300	6503	SO:0001583	missense	83746				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	g.chr22:41626178G>T	AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.2041G>T	22.37:g.41626178G>T	ENSP00000216237:p.Val681Leu					L3MBTL2_uc003azn.2_RNA|CHADL_uc003azq.3_Intron|CHADL_uc010gyj.2_Intron	p.V681L	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN			17	2095	+			681					Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	ENST00000216237.5	37	c.2041G>T	CCDS14011.1	.	.	.	.	.	.	.	.	.	.	G	5.866	0.343987	0.11126	.	.	ENSG00000100395	ENST00000216237	T	0.16743	2.32	4.74	-9.47	0.00594	.	2.967060	0.00883	N	0.002158	T	0.07503	0.0189	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18871	-1.0323	10	0.11485	T	0.65	.	10.3739	0.44071	0.1134:0.1928:0.6189:0.0749	.	681	Q969R5	LMBL2_HUMAN	L	681	ENSP00000216237:V681L	ENSP00000216237:V681L	V	+	1	0	L3MBTL2	39956124	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.958000	0.01519	-3.756000	0.00111	-1.879000	0.00546	GTG		0.607	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		18	61	1	0	6.33e-15	1.05e-14	18	61				
ITPR1	3708	broad.mit.edu	37	3	4725402	4725402	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr3:4725402G>T	ENST00000443694.2	+	25	3373	c.3373G>T	c.(3373-3375)Gag>Tag	p.E1125*	ITPR1_ENST00000354582.6_Nonsense_Mutation_p.E1140*|ITPR1_ENST00000357086.4_Nonsense_Mutation_p.E1131*|ITPR1_ENST00000456211.2_Nonsense_Mutation_p.E1116*|ITPR1_ENST00000423119.2_Nonsense_Mutation_p.E1131*|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Nonsense_Mutation_p.E1125*			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1140					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GGAAAAGTCAGAGCTTTGGGT	0.448																																						uc003bqa.2		NA																	0				lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21						c.(3391-3393)GAG>TAG		inositol 1,4,5-triphosphate receptor, type 1							110.0	103.0	105.0					3																	4725402		1952	4137	6089	SO:0001587	stop_gained	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4725402G>T	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.3373G>T	3.37:g.4725402G>T	ENSP00000401671:p.Glu1125*					ITPR1_uc010hca.1_Nonsense_Mutation_p.E1116*|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Nonsense_Mutation_p.E62*	p.E1131*	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	28	3739	+			1140			Cytoplasmic (Potential).		E7EPX7|E9PDE9|Q14660|Q99897	Nonsense_Mutation	SNP	ENST00000443694.2	37	c.3391G>T	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	43	9.858182	0.99281	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	.	.	.	4.34	4.34	0.51931	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	17.0171	0.86422	0.0:0.0:1.0:0.0	.	.	.	.	X	1140;1125;1140;1131;1131;1116;1125	.	ENSP00000306253:E1125X	E	+	1	0	ITPR1	4700402	1.000000	0.71417	0.956000	0.39512	0.992000	0.81027	9.449000	0.97603	2.419000	0.82065	0.655000	0.94253	GAG		0.448	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		4	54	1	0	2.56e-06	4.01e-06	4	54				
NEK11	79858	broad.mit.edu	37	3	130748710	130748710	+	Missense_Mutation	SNP	G	G	C	rs535090384		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr3:130748710G>C	ENST00000510769.1	+	2	411	c.158G>C	c.(157-159)cGa>cCa	p.R53P	NEK11_ENST00000356918.4_Missense_Mutation_p.R53P|NEK11_ENST00000507910.1_Missense_Mutation_p.R53P|NEK11_ENST00000429253.2_Missense_Mutation_p.R53P|NEK11_ENST00000508196.1_Missense_Mutation_p.R53P|NEK11_ENST00000383366.4_Missense_Mutation_p.R53P|NEK11_ENST00000510688.1_Missense_Mutation_p.R53P|NEK11_ENST00000511262.1_Missense_Mutation_p.R53P|NEK11_ENST00000412440.2_5'UTR					NIMA-related kinase 11											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						AAAGCCAAACGAGGAGAGGAA	0.413																																						uc003eny.2		NA																	0				large_intestine(4)|stomach(1)|central_nervous_system(1)	6						c.(157-159)CGA>CCA		NIMA-related kinase 11 isoform 1							106.0	103.0	104.0					3																	130748710		2203	4300	6503	SO:0001583	missense	79858				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:130748710G>C	AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"""NIMA (never in mitosis gene a)- related kinase 11"""				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.158G>C	3.37:g.130748710G>C	ENSP00000421549:p.Arg53Pro					NEK11_uc003enx.2_Missense_Mutation_p.R53P|NEK11_uc003eoa.2_Missense_Mutation_p.R53P|NEK11_uc003enz.2_5'UTR|NEK11_uc010htn.2_RNA|NEK11_uc011blk.1_5'UTR|NEK11_uc011bll.1_Missense_Mutation_p.R53P|NEK11_uc003enw.1_Missense_Mutation_p.R53P|NEK11_uc011blm.1_Missense_Mutation_p.R53P	p.R53P	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN			3	484	+			53			Protein kinase.			Missense_Mutation	SNP	ENST00000510769.1	37	c.158G>C		.	.	.	.	.	.	.	.	.	.	G	9.081	0.999310	0.19121	.	.	ENSG00000114670	ENST00000510769;ENST00000429253;ENST00000356918;ENST00000510688;ENST00000511262;ENST00000383366;ENST00000507910;ENST00000508196	T;T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.65	-11.3	0.00108	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.682591	0.12665	N	0.449241	T	0.50531	0.1621	L	0.58101	1.795	0.18873	N	0.999989	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001	T	0.19289	-1.0310	10	0.40728	T	0.16	.	9.2137	0.37333	0.2831:0.3614:0.3555:0.0	.	53;53;53;53;53	Q8NG66-3;E9PHI8;Q8NG66-4;Q8NG66;Q8NG66-2	.;.;.;NEK11_HUMAN;.	P	53	ENSP00000421549:R53P;ENSP00000397180:R53P;ENSP00000349389:R53P;ENSP00000423458:R53P;ENSP00000425114:R53P;ENSP00000372857:R53P;ENSP00000426662:R53P;ENSP00000421851:R53P	ENSP00000349389:R53P	R	+	2	0	NEK11	132231400	0.678000	0.27586	0.002000	0.10522	0.691000	0.40173	0.124000	0.15728	-2.015000	0.00947	-0.794000	0.03295	CGA		0.413	NEK11-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356757.1	NM_024800		17	38	0	0	0	0	17	38				
CLDN18	51208	broad.mit.edu	37	3	137717874	137717874	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr3:137717874G>A	ENST00000343735.4	+	1	298	c.164G>A	c.(163-165)cGa>cAa	p.R55Q		NM_001002026.2	NP_001002026.1	P56856	CLD18_HUMAN	claudin 18	55					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						TCCTGTGTCCGAGAGAGCTCT	0.602																																						uc003ero.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(163-165)CGA>CAA		claudin 18 isoform 2							89.0	86.0	87.0					3																	137717874		2203	4300	6503	SO:0001583	missense	51208				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr3:137717874G>A	AF221069, AY102073	CCDS3095.1, CCDS33862.1	3q	2008-08-27			ENSG00000066405	ENSG00000066405		"""Claudins"""	2039	protein-coding gene	gene with protein product		609210	"""surfactant associated protein J"""	SFTPJ			Standard	NM_001002026		Approved		uc003ero.1	P56856	OTTHUMG00000159762	ENST00000343735.4:c.164G>A	3.37:g.137717874G>A	ENSP00000340939:p.Arg55Gln						p.R55Q	NM_001002026	NP_001002026	P56856	CLD18_HUMAN			1	217	+			55			Extracellular (Potential).		A5PL21|Q96PH4	Missense_Mutation	SNP	ENST00000343735.4	37	c.164G>A	CCDS33862.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.946867	0.34377	.	.	ENSG00000066405	ENST00000343735	D	0.88509	-2.39	4.28	4.28	0.50868	.	0.316676	0.24583	N	0.037288	T	0.81564	0.4849	.	.	.	0.80722	D	1	B	0.19583	0.037	B	0.14578	0.011	T	0.76052	-0.3100	9	0.27082	T	0.32	.	10.8678	0.46866	0.087:0.0:0.913:0.0	.	55	P56856-2	.	Q	55	ENSP00000340939:R55Q	ENSP00000340939:R55Q	R	+	2	0	CLDN18	139200564	0.995000	0.38212	0.998000	0.56505	0.974000	0.67602	4.123000	0.57917	2.380000	0.81148	0.563000	0.77884	CGA		0.602	CLDN18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357198.2	NM_001002026		28	73	0	0	0	0	28	73				
SI	6476	broad.mit.edu	37	3	164754249	164754249	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr3:164754249C>A	ENST00000264382.3	-	22	2505	c.2443G>T	c.(2443-2445)Gga>Tga	p.G815*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	815	Isomaltase.				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)	ACTATAAGTCCTAGAGGATTC	0.338										HNSCC(35;0.089)																												uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(2443-2445)GGA>TGA		sucrase-isomaltase	Acarbose(DB00284)						95.0	97.0	97.0					3																	164754249		2203	4300	6503	SO:0001587	stop_gained	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.chr3:164754249C>A	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.2443G>T	3.37:g.164754249C>A	ENSP00000264382:p.Gly815*	HNSCC(35;0.089)					p.G815*	NM_001041	NP_001032	P14410	SUIS_HUMAN			22	2505	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	815			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Nonsense_Mutation	SNP	ENST00000264382.3	37	c.2443G>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	38	6.755547	0.97813	.	.	ENSG00000090402	ENST00000264382	.	.	.	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	10.1817	0.42972	0.0:0.9063:0.0:0.0937	.	.	.	.	X	815	.	ENSP00000264382:G815X	G	-	1	0	SI	166236943	1.000000	0.71417	0.963000	0.40424	0.434000	0.31775	3.664000	0.54525	2.484000	0.83849	0.650000	0.86243	GGA		0.338	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		15	43	1	0	0.000422831	0.000644035	15	43				
ZBBX	79740	broad.mit.edu	37	3	167031903	167031903	+	Splice_Site	SNP	A	A	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr3:167031903A>C	ENST00000392766.2	-	16	1616	c.1276T>G	c.(1276-1278)Tgt>Ggt	p.C426G	ZBBX_ENST00000455345.2_Splice_Site_p.C426G|ZBBX_ENST00000392767.2_Splice_Site_p.C426G|ZBBX_ENST00000392764.1_Splice_Site_p.C397G|ZBBX_ENST00000307529.5_Splice_Site_p.C426G|ZBBX_ENST00000469220.1_5'Flank	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	426						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						TGAAAAGCACAACTTTCACAT	0.284																																						uc003fep.2		NA																	0				ovary(2)	2						c.(1276-1278)TGT>GGT		zinc finger, B-box domain containing							85.0	75.0	78.0					3																	167031903		1813	4072	5885	SO:0001630	splice_region_variant	79740					intracellular	zinc ion binding	g.chr3:167031903A>C	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.1275-1T>G	3.37:g.167031903A>C						ZBBX_uc011bpc.1_Missense_Mutation_p.C426G|ZBBX_uc003feq.2_Missense_Mutation_p.C397G	p.C426G	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN			16	1599	-			426					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.1276T>G	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	A	2.130	-0.399229	0.04865	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.09350	3.16;3.16;3.16;3.16;2.99	5.29	2.91	0.33838	.	0.795454	0.11640	N	0.543890	T	0.10594	0.0259	L	0.50333	1.59	0.23851	N	0.996664	B;B	0.27732	0.187;0.118	B;B	0.25140	0.058;0.026	T	0.29243	-1.0018	10	0.37606	T	0.19	3.4972	6.9729	0.24658	0.8163:0.0:0.1837:0.0	.	426;426	A8MT70-2;A8MT70	.;ZBBX_HUMAN	G	426;426;426;426;397	ENSP00000376519:C426G;ENSP00000376520:C426G;ENSP00000390232:C426G;ENSP00000305065:C426G;ENSP00000376517:C397G	ENSP00000305065:C426G	C	-	1	0	ZBBX	168514597	0.043000	0.20138	0.335000	0.25508	0.011000	0.07611	0.151000	0.16283	0.412000	0.25729	0.533000	0.62120	TGT		0.284	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687	Missense_Mutation	4	73	0	0	0	0	4	73				
NCEH1	57552	broad.mit.edu	37	3	172365793	172365793	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr3:172365793C>G	ENST00000475381.1	-	2	483	c.250G>C	c.(250-252)Gac>Cac	p.D84H	NCEH1_ENST00000543711.1_Intron|NCEH1_ENST00000538775.1_Missense_Mutation_p.D116H|NCEH1_ENST00000273512.3_Missense_Mutation_p.D116H			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	84					lipid catabolic process (GO:0016042)|protein dephosphorylation (GO:0006470)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carboxylic ester hydrolase activity (GO:0052689)|phosphate ion binding (GO:0042301)|serine hydrolase activity (GO:0017171)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						AAGTCTGTGTCGGTCACCTTC	0.517																																						uc011bpx.1		NA																	0					0						c.(346-348)GAC>CAC		arylacetamide deacetylase-like 1 isoform a							87.0	81.0	83.0					3																	172365793		2203	4300	6503	SO:0001583	missense	57552				lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity	g.chr3:172365793C>G	AB037784	CCDS54681.1, CCDS54682.1	3q26.31	2009-07-23	2009-07-23	2009-07-23	ENSG00000144959	ENSG00000144959			29260	protein-coding gene	gene with protein product		613234	"""arylacetamide deacetylase-like 1"""	AADACL1		10718198	Standard	NM_001146276		Approved	KIAA1363, NCEH	uc011bpx.2	Q6PIU2	OTTHUMG00000156872	ENST00000475381.1:c.250G>C	3.37:g.172365793C>G	ENSP00000418571:p.Asp84His					NCEH1_uc003fig.2_Missense_Mutation_p.D116H|NCEH1_uc011bpw.1_5'UTR|NCEH1_uc011bpy.1_Intron	p.D116H	NM_001146276	NP_001139748	Q6PIU2	NCEH1_HUMAN			2	484	-			84			Lumenal (Potential).		B7Z2K4|B7Z3A1|B7Z5U2|B7Z906|B7ZAW6|F5H7K4|Q86WZ1|Q9P2I4	Missense_Mutation	SNP	ENST00000475381.1	37	c.346G>C		.	.	.	.	.	.	.	.	.	.	C	18.05	3.537020	0.65085	.	.	ENSG00000144959	ENST00000475381;ENST00000538775;ENST00000273512	T;T;T	0.58940	0.3;0.3;0.3	5.96	5.96	0.96718	.	0.044434	0.85682	D	0.000000	T	0.78162	0.4240	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.78679	-0.2110	10	0.87932	D	0	-38.7708	20.422	0.99049	0.0:1.0:0.0:0.0	.	116;84	F5H7K4;Q6PIU2	.;NCEH1_HUMAN	H	84;116;116	ENSP00000418571:D84H;ENSP00000442464:D116H;ENSP00000273512:D116H	ENSP00000273512:D116H	D	-	1	0	NCEH1	173848487	1.000000	0.71417	0.967000	0.41034	0.124000	0.20399	6.196000	0.72094	2.832000	0.97577	0.655000	0.94253	GAC		0.517	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346367.3	NM_020792		13	83	0	0	0	0	13	83				
KNG1	3827	broad.mit.edu	37	3	186459996	186459996	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr3:186459996C>T	ENST00000265023.4	+	10	2023	c.1811C>T	c.(1810-1812)tCa>tTa	p.S604L	KNG1_ENST00000447445.1_Intron|RP11-573D15.8_ENST00000596329.1_RNA|RP11-573D15.8_ENST00000599314.1_RNA|RP11-573D15.8_ENST00000609652.1_RNA|RP11-573D15.8_ENST00000354642.2_RNA|KNG1_ENST00000287611.2_Intron|RP11-573D15.8_ENST00000596632.1_RNA|RP11-573D15.8_ENST00000609726.1_RNA	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	604					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		AACCCAATATCAGATTTTCCA	0.423																																						uc011bsa.1		NA																	0				skin(1)	1						c.(1810-1812)TCA>TTA		kininogen 1 isoform 1	Ouabain(DB01092)						122.0	116.0	118.0					3																	186459996		1870	4103	5973	SO:0001583	missense	3827				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	g.chr3:186459996C>T		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"""Endogenous ligands"""	6383	protein-coding gene	gene with protein product	"""alpha-2-thiol proteinase inhibitor"", ""bradykinin"""	612358	"""kininogen"""	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.1811C>T	3.37:g.186459996C>T	ENSP00000265023:p.Ser604Leu					KNG1_uc003fqr.2_Intron	p.S604L	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	10	2023	+	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		604					A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Missense_Mutation	SNP	ENST00000265023.4	37	c.1811C>T	CCDS43183.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.442336	0.25987	.	.	ENSG00000113889	ENST00000265023	T	0.20200	2.09	4.65	3.78	0.43462	.	0.506900	0.16852	N	0.196864	T	0.17109	0.0411	L	0.52573	1.65	0.80722	D	1	P	0.37466	0.596	B	0.32864	0.154	T	0.03608	-1.1020	9	.	.	.	-1.3929	8.8484	0.35184	0.0:0.898:0.0:0.102	.	604	P01042	KNG1_HUMAN	L	604	ENSP00000265023:S604L	.	S	+	2	0	KNG1	187942690	0.651000	0.27340	0.939000	0.37840	0.255000	0.26057	1.660000	0.37397	1.342000	0.45619	-0.253000	0.11424	TCA		0.423	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		32	114	0	0	0	0	32	114				
EVC2	132884	broad.mit.edu	37	4	5586437	5586437	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr4:5586437G>C	ENST00000344408.5	-	17	3023	c.2970C>G	c.(2968-2970)agC>agG	p.S990R	EVC2_ENST00000344938.1_Missense_Mutation_p.S990R|EVC2_ENST00000310917.2_Missense_Mutation_p.S910R	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	990					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						AGTCCTGGATGCTGAGGAGGG	0.617																																						uc003gij.2		NA																	0				large_intestine(3)|ovary(2)	5						c.(2968-2970)AGC>AGG		limbin							58.0	56.0	57.0					4																	5586437		2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5586437G>C	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.2970C>G	4.37:g.5586437G>C	ENSP00000342144:p.Ser990Arg					EVC2_uc011bwb.1_Missense_Mutation_p.S430R|EVC2_uc003gik.2_Missense_Mutation_p.S910R	p.S990R	NM_147127	NP_667338	Q86UK5	LBN_HUMAN			17	3024	-			990					Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.2970C>G	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	G	14.12	2.439846	0.43326	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.74421	-0.84;-0.83;-0.84	4.98	4.12	0.48240	.	0.339889	0.30269	N	0.010017	T	0.57315	0.2045	N	0.20986	0.625	0.34812	D	0.737854	B	0.26195	0.144	B	0.18561	0.022	T	0.61710	-0.7007	10	0.21540	T	0.41	-16.1717	11.9193	0.52783	0.0922:0.0:0.9078:0.0	.	990	Q86UK5	LBN_HUMAN	R	990;910;990	ENSP00000339954:S990R;ENSP00000311683:S910R;ENSP00000342144:S990R	ENSP00000311683:S910R	S	-	3	2	EVC2	5637338	0.427000	0.25514	0.985000	0.45067	0.984000	0.73092	1.343000	0.33930	2.480000	0.83734	0.543000	0.68304	AGC		0.617	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		6	38	0	0	0	0	6	38				
SHROOM3	57619	broad.mit.edu	37	4	77660159	77660159	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr4:77660159C>G	ENST00000296043.6	+	5	1786	c.833C>G	c.(832-834)tCt>tGt	p.S278C		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	278					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCTGGCATCTCTGGCCGGGAG	0.527																																						uc011cbx.1		NA																	0				skin(2)|ovary(1)	3						c.(832-834)TCT>TGT		shroom family member 3 protein							48.0	42.0	44.0					4																	77660159		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77660159C>G	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.833C>G	4.37:g.77660159C>G	ENSP00000296043:p.Ser278Cys					SHROOM3_uc011cbz.1_Missense_Mutation_p.S102C|SHROOM3_uc003hkf.1_Missense_Mutation_p.S153C|SHROOM3_uc003hkg.2_Missense_Mutation_p.S56C	p.S278C	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	1786	+			278					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.833C>G	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	C	9.168	1.020380	0.19433	.	.	ENSG00000138771	ENST00000296043	T	0.47528	0.84	6.02	5.18	0.71444	.	0.603497	0.17004	N	0.190782	T	0.53302	0.1788	M	0.72894	2.215	0.09310	N	1	D;D;D	0.63880	0.993;0.993;0.988	P;P;P	0.49999	0.628;0.533;0.533	T	0.52646	-0.8548	10	0.48119	T	0.1	-1.1358	7.8547	0.29474	0.0:0.7868:0.0:0.2132	.	102;278;56	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	C	278	ENSP00000296043:S278C	ENSP00000296043:S278C	S	+	2	0	SHROOM3	77879183	0.012000	0.17670	0.080000	0.20451	0.021000	0.10359	2.205000	0.42770	1.567000	0.49668	0.655000	0.94253	TCT		0.527	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		17	64	0	0	0	0	17	64				
ZGRF1	55345	broad.mit.edu	37	4	113462064	113462064	+	Silent	SNP	T	T	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr4:113462064T>A	ENST00000505019.1	-	26	5948	c.5823A>T	c.(5821-5823)acA>acT	p.T1941T	RP11-402J6.1_ENST00000504009.1_RNA	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1941						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TCAGCTTGAGTGTAAACGTAG	0.358																																						uc003iau.2		NA																	0					0						c.(5821-5823)ACA>ACT		prematurely terminated mRNA decay factor-like							87.0	77.0	80.0					4																	113462064		2201	4299	6500	SO:0001819	synonymous_variant	55345					integral to membrane	zinc ion binding	g.chr4:113462064T>A																												ENST00000505019.1:c.5823A>T	4.37:g.113462064T>A						C4orf21_uc003iav.2_RNA|C4orf21_uc003iat.2_Silent_p.T399T	p.T1941T	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	26	6034	-		Ovarian(17;0.156)	763					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Silent	SNP	ENST00000505019.1	37	c.5823A>T																																																																																					0.358	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			5	5	0	0	0	0	5	5				
GYPB	2994	broad.mit.edu	37	4	145039887	145039887	+	Intron	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr4:145039887G>A	ENST00000283126.7	-	1	93				GYPA_ENST00000512064.1_Intron|GYPA_ENST00000324022.10_Missense_Mutation_p.A51V|GYPA_ENST00000503627.1_Intron|GYPA_ENST00000512789.1_Missense_Mutation_p.A19V|GYPA_ENST00000535709.1_Missense_Mutation_p.A58V|GYPA_ENST00000360771.4_Missense_Mutation_p.A84V|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000504786.1_Missense_Mutation_p.A52V			P06028	GLPB_HUMAN	glycophorin B (MNS blood group)							integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					GAAATGATGGGCAAGTTGTAC	0.313																																						uc003ijo.3		NA																	0		p.A84T(1)		central_nervous_system(2)	2						c.(250-252)GCC>GTC		glycophorin A precursor							107.0	107.0	107.0					4																	145039887		2203	4300	6503	SO:0001627	intron_variant	2993				interspecies interaction between organisms	membrane fraction	receptor activity	g.chr4:145039887G>A		CCDS54809.1	4q31.21	2014-09-17	2006-02-23			ENSG00000250361		"""CD molecules"", ""Blood group antigens"""	4703	protein-coding gene	gene with protein product		111740	"""glycophorin B (includes Ss blood group)"", ""glycophorin B (Ss blood group)"""	MNS			Standard	NM_002100		Approved	GPB, SS, CD235b		P06028		ENST00000283126.7:c.37+21864C>T	4.37:g.145039887G>A						GYPA_uc003ijn.2_Missense_Mutation_p.A84V|GYPA_uc011cia.1_RNA|GYPA_uc011cib.1_Missense_Mutation_p.A51V|GYPA_uc003ijp.3_Missense_Mutation_p.A52V|GYPA_uc010ioq.2_Intron|GYPA_uc010ior.2_Missense_Mutation_p.A19V|GYPA_uc010ios.1_Intron	p.A84V	NM_002099	NP_002090	P02724	GLPA_HUMAN			4	367	-	all_hematologic(180;0.15)		84		A -> P (in ENEP/HAG antigen).	Extracellular.		B8Q174|E2QBW7|Q0VAF4|Q58HE9|Q58HF0|Q58HF1|Q9UCH7	Missense_Mutation	SNP	ENST00000283126.7	37	c.251C>T		.	.	.	.	.	.	.	.	.	.	A	1.395	-0.579719	0.03854	.	.	ENSG00000170180	ENST00000360771;ENST00000324022;ENST00000535709;ENST00000512789;ENST00000504786;ENST00000394119	T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41	3.82	-7.64	0.01286	.	5.805190	0.00508	N	0.000168	T	0.03827	0.0108	N	0.00226	-1.805	0.09310	N	1	B;B;B;B;B	0.09022	0.0;0.0;0.0;0.0;0.002	B;B;B;B;B	0.15484	0.001;0.0;0.001;0.003;0.013	T	0.39461	-0.9613	10	0.20046	T	0.44	5.1433	9.2225	0.37386	0.3916:0.0:0.4702:0.1383	.	51;19;52;84;84	B8Q185;Q13030;E7EQF3;P02724;Q16336	.;.;.;GLPA_HUMAN;.	V	84;51;58;19;52;52	ENSP00000354003:A84V;ENSP00000324483:A51V;ENSP00000445398:A58V;ENSP00000425193:A19V;ENSP00000425549:A52V	ENSP00000324483:A51V	A	-	2	0	GYPA	145259337	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.533000	0.00062	-4.421000	0.00050	-2.330000	0.00249	GCC		0.313	GYPB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002100		36	17	0	0	0	0	36	17				
GUCY1B3	2983	broad.mit.edu	37	4	156724819	156724819	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr4:156724819C>T	ENST00000264424.8	+	11	1539	c.1457C>T	c.(1456-1458)cCa>cTa	p.P486L	GUCY1B3_ENST00000502959.1_Missense_Mutation_p.P508L|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.P453L|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.P461L|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.P418L|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.P418L|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.P466L	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	486	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		AGTGGTTTACCAGAGCCATGC	0.428																																						uc003ipc.2		NA																	0					0						c.(1456-1458)CCA>CTA		guanylate cyclase 1, soluble, beta 3							79.0	80.0	80.0					4																	156724819		1981	4175	6156	SO:0001583	missense	2983				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity	g.chr4:156724819C>T	AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.1457C>T	4.37:g.156724819C>T	ENSP00000264424:p.Pro486Leu					GUCY1B3_uc011cio.1_Missense_Mutation_p.P508L|GUCY1B3_uc011cip.1_Missense_Mutation_p.P466L|GUCY1B3_uc003ipd.2_Missense_Mutation_p.P414L|GUCY1B3_uc010iqf.2_Missense_Mutation_p.P453L|GUCY1B3_uc010iqg.2_Missense_Mutation_p.P457L|GUCY1B3_uc011ciq.1_Missense_Mutation_p.P414L	p.P486L	NM_000857	NP_000848	Q02153	GCYB1_HUMAN		COAD - Colon adenocarcinoma(41;0.148)	11	1624	+	all_hematologic(180;0.24)	Renal(120;0.0854)	486			Guanylate cyclase.		B7Z426|Q86WY5	Missense_Mutation	SNP	ENST00000264424.8	37	c.1457C>T	CCDS47154.1	.	.	.	.	.	.	.	.	.	.	C	33	5.224399	0.95139	.	.	ENSG00000061918	ENST00000505154;ENST00000502959;ENST00000505764;ENST00000507146;ENST00000264424;ENST00000503520;ENST00000513437	T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27;1.27	5.61	5.61	0.85477	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.71099	0.3300	M	0.93150	3.385	0.80722	D	1	D;D;D;D;P	0.65815	0.99;0.99;0.995;0.987;0.935	D;D;D;P;P	0.68483	0.91;0.957;0.958;0.854;0.807	T	0.78252	-0.2276	10	0.72032	D	0.01	.	20.0018	0.97417	0.0:1.0:0.0:0.0	.	466;508;461;453;486	B7Z426;E9PCN2;D6RC99;Q02153-2;Q02153	.;.;.;.;GCYB1_HUMAN	L	418;508;466;461;486;453;418	ENSP00000427226:P418L;ENSP00000426786:P508L;ENSP00000426319:P466L;ENSP00000422313:P461L;ENSP00000264424:P486L;ENSP00000420842:P453L;ENSP00000425065:P418L	ENSP00000264424:P486L	P	+	2	0	GUCY1B3	156944269	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.770000	0.85390	2.793000	0.96121	0.655000	0.94253	CCA		0.428	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365770.2			10	9	0	0	0	0	10	9				
NPY1R	4886	broad.mit.edu	37	4	164247590	164247590	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr4:164247590C>A	ENST00000296533.2	-	2	648	c.117G>T	c.(115-117)atG>atT	p.M39I	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	39					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AGGTAAATATCATGGCCAAGG	0.408																																						uc003iqm.1		NA																	0				lung(1)|pancreas(1)	2						c.(115-117)ATG>ATT		neuropeptide Y receptor Y1							115.0	106.0	109.0					4																	164247590		2203	4300	6503	SO:0001583	missense	4886				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	g.chr4:164247590C>A		CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"""GPCR / Class A : Neuropeptide receptors : Y"""	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.117G>T	4.37:g.164247590C>A	ENSP00000354652:p.Met39Ile					NPY1R_uc011cjj.1_Intron	p.M39I	NM_000909	NP_000900	P25929	NPY1R_HUMAN			2	383	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	39			Extracellular (Potential).		B2R6H5	Missense_Mutation	SNP	ENST00000296533.2	37	c.117G>T	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	C	8.479	0.859361	0.17178	.	.	ENSG00000164128	ENST00000296533;ENST00000504790;ENST00000515701	T	0.35789	1.29	5.65	4.8	0.61643	.	0.219434	0.27811	U	0.017746	T	0.22044	0.0531	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06250	-1.0837	10	0.19147	T	0.46	.	10.188	0.43009	0.0:0.7917:0.1371:0.0711	.	39	P25929	NPY1R_HUMAN	I	39	ENSP00000354652:M39I	ENSP00000354652:M39I	M	-	3	0	NPY1R	164467040	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	1.053000	0.30442	1.360000	0.45960	0.650000	0.86243	ATG		0.408	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1			32	24	1	0	5.46e-16	9.07e-16	32	24				
TRIO	7204	broad.mit.edu	37	5	14477072	14477072	+	Splice_Site	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr5:14477072C>G	ENST00000344204.4	+	41	6177	c.6153C>G	c.(6151-6153)caC>caG	p.H2051Q	TRIO_ENST00000537187.1_Splice_Site_p.H2051Q	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2051	DH 2. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.H2051H(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TTGTTAAACACGTAAGCACAA	0.353																																						uc003jff.2		NA																	1	Substitution - coding silent(1)		kidney(1)	skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.(6151-6153)CAC>CAG		triple functional domain (PTPRF interacting)							116.0	110.0	112.0					5																	14477072		2203	4300	6503	SO:0001630	splice_region_variant	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14477072C>G	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.6153+1C>G	5.37:g.14477072C>G						TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Missense_Mutation_p.H1700Q	p.H2051Q	NM_007118	NP_009049	O75962	TRIO_HUMAN			41	6159	+	Lung NSC(4;0.000742)		2051			DH 2.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.6153C>G	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.742823	0.49151	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206;ENST00000541447	T;T	0.68903	-0.36;-0.36	5.39	-1.91	0.07641	Dbl homology (DH) domain (5);	0.055741	0.64402	D	0.000001	T	0.54886	0.1886	L	0.35593	1.075	0.49483	D	0.999792	B;B	0.27971	0.196;0.042	B;B	0.38296	0.27;0.157	T	0.40553	-0.9557	10	0.33141	T	0.24	.	10.7894	0.46424	0.0:0.2528:0.0:0.7472	.	2051;2051	O75962-5;O75962	.;TRIO_HUMAN	Q	2051;2051;1738;131	ENSP00000339299:H2051Q;ENSP00000446348:H2051Q	ENSP00000339299:H2051Q	H	+	3	2	TRIO	14530072	0.998000	0.40836	0.991000	0.47740	0.785000	0.44390	0.392000	0.20801	-0.252000	0.09528	-0.225000	0.12378	CAC		0.353	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118	Missense_Mutation	4	20	0	0	0	0	4	20				
CDH18	1016	broad.mit.edu	37	5	19483518	19483518	+	Nonsense_Mutation	SNP	C	C	A	rs544232876		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr5:19483518C>A	ENST00000507958.1	-	14	2764	c.1774G>T	c.(1774-1776)Gag>Tag	p.E592*	CDH18_ENST00000274170.4_Nonsense_Mutation_p.E592*|CDH18_ENST00000506372.1_Silent_p.A556A|CDH18_ENST00000382275.1_Nonsense_Mutation_p.E592*|CDH18_ENST00000502796.1_Silent_p.A555A			Q13634	CAD18_HUMAN	cadherin 18, type 2	592	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CCATCTCTCTCGCATGCACAA	0.517																																						uc003jgc.2		NA																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(1774-1776)GAG>TAG		cadherin 18, type 2 preproprotein							81.0	69.0	73.0					5																	19483518		2203	4300	6503	SO:0001587	stop_gained	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19483518C>A	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1774G>T	5.37:g.19483518C>A	ENSP00000425093:p.Glu592*					CDH18_uc003jgd.2_Nonsense_Mutation_p.E592*|CDH18_uc011cnm.1_Silent_p.A555A	p.E592*	NM_004934	NP_004925	Q13634	CAD18_HUMAN			11	2151	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		592			Extracellular (Potential).|Cadherin 5.		A8K0I2|B4DHG6|Q8N5Z2	Nonsense_Mutation	SNP	ENST00000507958.1	37	c.1774G>T	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	47	13.594671	0.99751	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	.	.	.	5.54	5.54	0.83059	.	0.056684	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0513	0.89349	0.0:1.0:0.0:0.0	.	.	.	.	X	592	.	.	E	-	1	0	CDH18	19519275	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.000000	0.49481	2.615000	0.88500	0.655000	0.94253	GAG		0.517	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		9	31	1	0	0.00448238	0.006688	9	31				
FBN2	2201	broad.mit.edu	37	5	127614517	127614517	+	Silent	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr5:127614517G>C	ENST00000508053.1	-	63	8129	c.7155C>G	c.(7153-7155)ctC>ctG	p.L2385L	FBN2_ENST00000262464.4_Silent_p.L2385L			P35556	FBN2_HUMAN	fibrillin 2	2385	TB 9.				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)		CTGCAAAGCAGAGACCCTGTC	0.468																																						uc003kuu.2		NA																	0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(7153-7155)CTC>CTG		fibrillin 2 precursor							66.0	61.0	63.0					5																	127614517		2203	4300	6503	SO:0001819	synonymous_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.chr5:127614517G>C	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.7155C>G	5.37:g.127614517G>C							p.L2385L	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)	57	7594	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2385			TB 9.		B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.7155C>G	CCDS34222.1																																																																																				0.468	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		13	29	0	0	0	0	13	29				
DCANP1	140947	broad.mit.edu	37	5	134782555	134782555	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr5:134782555G>A	ENST00000503143.2	-	1	483	c.244C>T	c.(244-246)Cga>Tga	p.R82*	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN		82						nucleus (GO:0005634)				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCCCCCTCTCGCAGGACCCCA	0.592																																						uc003lav.2		NA																	0					0						c.(244-246)CGA>TGA		dendritic cell nuclear protein 1							33.0	37.0	36.0					5																	134782555		2203	4300	6503	SO:0001587	stop_gained	140947					nucleus		g.chr5:134782555G>A																												ENST00000503143.2:c.244C>T	5.37:g.134782555G>A	ENSP00000421871:p.Arg82*						p.R82*	NM_130848	NP_570900	Q8TF63	DCNP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	484	-			82						Nonsense_Mutation	SNP	ENST00000503143.2	37	c.244C>T	CCDS4186.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101493	0.56183	.	.	ENSG00000251380	ENST00000503143	.	.	.	3.15	-6.31	0.02001	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	0.3318	0.00320	0.2898:0.2211:0.2623:0.2268	.	.	.	.	X	82	.	ENSP00000421871:R82X	R	-	1	2	C5orf20	134810454	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.767000	0.00188	-3.031000	0.00266	-2.555000	0.00176	CGA		0.592	C5orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372531.1			19	54	0	0	0	0	19	54				
PCDHB16	57717	broad.mit.edu	37	5	140568207	140568207	+	IGR	SNP	T	T	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr5:140568207T>C	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)			AGCATAACCCTGCAGGTCTCC	0.582																																						uc003liw.1		NA																	0					0						c.(1315-1317)CTG>CCG		protocadherin beta 9 precursor							149.0	145.0	146.0					5																	140568207		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.chr5:140568207T>C	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.140568207T>C							p.L439P	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		3	1316	+			439			Extracellular (Potential).|Cadherin 4.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.1316T>C	CCDS4251.1																																																																																				0.582	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		59	156	0	0	0	0	59	156				
DSP	1832	broad.mit.edu	37	6	7579931	7579931	+	Missense_Mutation	SNP	G	G	A	rs139582608		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:7579931G>A	ENST00000379802.3	+	23	3849	c.3508G>A	c.(3508-3510)Gag>Aag	p.E1170K	DSP_ENST00000418664.2_Missense_Mutation_p.E1170K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1170	Central fibrous rod domain.				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)	p.E1170K(1)		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)		GAAGGAGTACGAGATTGAAAG	0.438																																						uc003mxp.1		NA																	1	Substitution - Missense(1)	p.E1170K(1)	skin(1)	central_nervous_system(6)|ovary(2)|skin(1)	9						c.(3508-3510)GAG>AAG		desmoplakin isoform I							78.0	77.0	77.0					6																	7579931		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7579931G>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.3508G>A	6.37:g.7579931G>A	ENSP00000369129:p.Glu1170Lys					DSP_uc003mxq.1_Missense_Mutation_p.E1170K	p.E1170K	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	3787	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1170			Central fibrous rod domain.|Potential.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.3508G>A	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.279854	0.80692	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	D;D	0.94576	-3.46;-3.46	5.01	5.01	0.66863	.	0.000000	0.52532	D	0.000066	D	0.95310	0.8478	L	0.46157	1.445	0.58432	D	0.999999	P;D	0.89917	0.643;1.0	B;D	0.73708	0.084;0.981	D	0.94666	0.7852	10	0.40728	T	0.16	.	18.2997	0.90160	0.0:0.0:1.0:0.0	.	1217;1170	Q4LE79;P15924	.;DESP_HUMAN	K	1170	ENSP00000369129:E1170K;ENSP00000396591:E1170K	ENSP00000369129:E1170K	E	+	1	0	DSP	7524930	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	9.864000	0.99589	2.307000	0.77673	0.557000	0.71058	GAG		0.438	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		9	15	0	0	0	0	9	15				
JARID2	3720	broad.mit.edu	37	6	15517481	15517481	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:15517481G>C	ENST00000341776.2	+	17	3784	c.3540G>C	c.(3538-3540)ttG>ttC	p.L1180F	JARID2_ENST00000397311.3_Missense_Mutation_p.L1008F	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	1180					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GGCTGAAGTTGATGTACCGCT	0.622																																						uc003nbj.2		NA																	0				ovary(2)|lung(1)|pancreas(1)	4						c.(3538-3540)TTG>TTC		jumonji, AT rich interactive domain 2 protein							167.0	143.0	151.0					6																	15517481		2203	4300	6503	SO:0001583	missense	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15517481G>C	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.3540G>C	6.37:g.15517481G>C	ENSP00000341280:p.Leu1180Phe					JARID2_uc011div.1_Missense_Mutation_p.L1008F	p.L1180F	NM_004973	NP_004964	Q92833	JARD2_HUMAN			17	3784	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	1180					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	c.3540G>C	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.129257	0.56721	.	.	ENSG00000008083	ENST00000341776;ENST00000397311	D;D	0.93426	-3.22;-3.22	4.88	0.829	0.18847	Zinc finger, C5HC2-type (1);	0.052229	0.64402	D	0.000001	D	0.84311	0.5444	N	0.14661	0.345	0.43959	D	0.996631	P	0.47841	0.901	P	0.49047	0.599	D	0.83661	0.0161	10	0.72032	D	0.01	-10.8625	12.3727	0.55263	0.0682:0.5239:0.4079:0.0	.	1180	Q92833	JARD2_HUMAN	F	1180;1008	ENSP00000341280:L1180F;ENSP00000380478:L1008F	ENSP00000341280:L1180F	L	+	3	2	JARID2	15625460	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	1.165000	0.31822	-0.075000	0.12798	-0.273000	0.10243	TTG		0.622	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		18	66	0	0	0	0	18	66				
KDM1B	221656	broad.mit.edu	37	6	18208370	18208370	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:18208370G>T	ENST00000297792.5	+	13	1280	c.1103G>T	c.(1102-1104)tGt>tTt	p.C368F	KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000397244.1_Missense_Mutation_p.C369F|KDM1B_ENST00000388870.2_Missense_Mutation_p.C601F			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	600	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						CAGGTGCAGTGTATTGATTAT	0.428																																						uc003nco.1		NA																	0				skin(1)	1						c.(1189-1191)TGT>TTT		amine oxidase (flavin containing) domain 1							175.0	169.0	171.0					6																	18208370		2203	4300	6503	SO:0001583	missense	221656				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	g.chr6:18208370G>T	AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"""Chromatin-modifying enzymes / K-demethylases"""	21577	protein-coding gene	gene with protein product		613081	"""amine oxidase, flavin containing 1"", ""chromosome 6 open reading frame 193"", ""amine oxidase (flavin containing) domain 1"""	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.1103G>T	6.37:g.18208370G>T	ENSP00000297792:p.Cys368Phe					KDM1B_uc003ncn.1_Missense_Mutation_p.C368F	p.C397F	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN			10	1265	+			600					A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Missense_Mutation	SNP	ENST00000297792.5	37	c.1190G>T	CCDS34343.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.612|7.612	0.675052|0.675052	0.14841|0.14841	.|.	.|.	ENSG00000165097|ENSG00000165097	ENST00000388870;ENST00000397244;ENST00000297792;ENST00000388869|ENST00000449850	D;D;D|.	0.92299|.	-3.01;-3.01;-3.01|.	5.16|5.16	3.31|3.31	0.37934|0.37934	Amine oxidase (1);|.	0.350505|.	0.36932|.	N|.	0.002332|.	T|T	0.28234|0.28234	0.0697|0.0697	L|L	0.43152|0.43152	1.355|1.355	0.32023|0.32023	N|N	0.600558|0.600558	B;B|.	0.27559|.	0.036;0.181|.	B;B|.	0.20184|.	0.022;0.028|.	T|T	0.10520|0.10520	-1.0626|-1.0626	10|5	0.66056|.	D|.	0.02|.	-14.8079|-14.8079	8.4467|8.4467	0.32847|0.32847	0.1523:0.1402:0.7075:0.0|0.1523:0.1402:0.7075:0.0	.|.	600;368|.	Q8NB78;A2A2C6|.	KDM1B_HUMAN;.|.	F|L	601;369;368;600|418	ENSP00000373522:C601F;ENSP00000380419:C369F;ENSP00000297792:C368F|.	ENSP00000297792:C368F|.	C|V	+|+	2|1	0|0	KDM1B|KDM1B	18316349|18316349	0.935000|0.935000	0.31712|0.31712	0.848000|0.848000	0.33437|0.33437	0.270000|0.270000	0.26580|0.26580	1.149000|1.149000	0.31626|0.31626	1.411000|1.411000	0.46957|0.46957	0.655000|0.655000	0.94253|0.94253	TGT|GTA		0.428	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	NM_153042		12	60	1	0	0.000308642	0.000471198	12	60				
HIST1H1B	3009	broad.mit.edu	37	6	27834778	27834778	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:27834778G>A	ENST00000331442.3	-	1	581	c.530C>T	c.(529-531)gCc>gTc	p.A177V		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	177					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						AGCGGCCTTGGCCTTCTTAGG	0.587																																						uc003njx.2		NA																	0				large_intestine(2)|lung(1)	3						c.(529-531)GCC>GTC		histone cluster 1, H1b							74.0	76.0	75.0					6																	27834778		2203	4300	6503	SO:0001583	missense	3009				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27834778G>A	AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"""Histones / Replication-dependent"""	4719	protein-coding gene	gene with protein product		142711	"""H1 histone family, member 5"", ""histone 1, H1b"""	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.530C>T	6.37:g.27834778G>A	ENSP00000330074:p.Ala177Val						p.A177V	NM_005322	NP_005313	P16401	H15_HUMAN			1	582	-			177					Q14529|Q3MJ42	Missense_Mutation	SNP	ENST00000331442.3	37	c.530C>T	CCDS4635.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.333227	0.24167	.	.	ENSG00000184357	ENST00000331442	T	0.14391	2.51	5.19	3.41	0.39046	.	0.351640	0.28790	N	0.014131	T	0.02342	0.0072	N	0.08118	0	0.40977	D	0.984744	B	0.02656	0.0	B	0.04013	0.001	T	0.38436	-0.9661	10	0.30078	T	0.28	-7.5608	10.293	0.43608	0.2224:0.0:0.7776:0.0	.	177	P16401	H15_HUMAN	V	177	ENSP00000330074:A177V	ENSP00000330074:A177V	A	-	2	0	HIST1H1B	27942757	0.013000	0.17824	0.010000	0.14722	0.021000	0.10359	1.449000	0.35123	0.706000	0.31912	0.655000	0.94253	GCC		0.587	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1	NM_005322		45	91	0	0	0	0	45	91				
ATP6V1G2	534	broad.mit.edu	37	6	31514269	31514269	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:31514269G>T	ENST00000303892.5	-	1	352	c.68C>A	c.(67-69)gCa>gAa	p.A23E	NFKBIL1_ENST00000376148.4_5'Flank|ATP6V1G2_ENST00000483251.1_Intron|ATP6V1G2_ENST00000376151.4_Missense_Mutation_p.A23E|ATP6V1G2-DDX39B_ENST00000376185.1_Missense_Mutation_p.A23E|NFKBIL1_ENST00000376145.4_5'Flank|ATP6V1G2_ENST00000483170.1_Intron|ATP6V1G2-DDX39B_ENST00000475917.1_5'UTR	NM_130463.3|NM_138282.2	NP_569730.1|NP_612139.1	O95670	VATG2_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2	23					cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5						TCTGGCATCTGCCACCTTCTC	0.512																																						uc003nua.2		NA																	0					0						c.(67-69)GCA>GAA		ATPase, H+ transporting, lysosomal, V1 subunit							69.0	60.0	63.0					6																	31514269		2203	4300	6503	SO:0001583	missense	534				cellular iron ion homeostasis|insulin receptor signaling pathway|proton transport|transferrin transport	cytosol|melanosome|vacuolar proton-transporting V-type ATPase complex	hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances|protein binding	g.chr6:31514269G>T	Y14768	CCDS4698.1, CCDS4699.1, CCDS56413.1	6p21.3	2011-03-29	2006-01-13	2002-05-10	ENSG00000213760	ENSG00000213760		"""ATPases / V-type"""	862	protein-coding gene	gene with protein product		606853	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump)"", ""ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 2"""	ATP6G, ATP6G2		10202016	Standard	NM_138282		Approved	Vma10, NG38, Em:AC004181.3	uc003nua.3	O95670	OTTHUMG00000166618	ENST00000303892.5:c.68C>A	6.37:g.31514269G>T	ENSP00000302194:p.Ala23Glu					BAT1_uc003ntv.2_5'UTR|ATP6V1G2_uc003ntz.2_Intron|NFKBIL1_uc011dnr.1_5'Flank|NFKBIL1_uc011dns.1_5'Flank|NFKBIL1_uc011dnt.1_5'Flank|NFKBIL1_uc003nuc.2_5'Flank|NFKBIL1_uc003nub.2_5'Flank	p.A23E	NM_130463	NP_569730	O95670	VATG2_HUMAN			1	359	-			23					B5MEF0|Q2L6F8|Q5HYU8|Q5RJ63	Missense_Mutation	SNP	ENST00000303892.5	37	c.68C>A	CCDS4698.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590170	0.86851	.	.	ENSG00000254870;ENSG00000213760;ENSG00000213760;ENSG00000213760	ENST00000475917;ENST00000459671;ENST00000376151;ENST00000303892	T;T	0.40225	1.04;1.13	6.06	6.06	0.98353	.	0.174879	0.36200	U	0.002738	T	0.15652	0.0377	N	0.16130	0.375	0.80722	D	1	B	0.21071	0.051	B	0.31547	0.132	T	0.09400	-1.0676	10	0.07325	T	0.83	.	18.1147	0.89549	0.0:0.0:1.0:0.0	.	23	O95670	VATG2_HUMAN	E	23	ENSP00000365321:A23E;ENSP00000302194:A23E	ENSP00000302194:A23E	A	-	2	0	ATP6V1G2-DDX39B;ATP6V1G2	31622248	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.596000	0.74113	2.882000	0.98803	0.655000	0.94253	GCA		0.512	ATP6V1G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076399.3	NM_130463		7	17	1	0	0.00198382	0.00296671	7	17				
ZNF318	24149	broad.mit.edu	37	6	43323114	43323114	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:43323114G>A	ENST00000361428.2	-	4	2035	c.1958C>T	c.(1957-1959)tCa>tTa	p.S653L	ZNF318_ENST00000318149.3_Missense_Mutation_p.S653L	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	653					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GCGGTCAGCTGAGAAGCGGTG	0.537																																						uc003oux.2		NA																	0				ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7						c.(1957-1959)TCA>TTA		zinc finger protein 318							145.0	119.0	128.0					6																	43323114		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43323114G>A	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.1958C>T	6.37:g.43323114G>A	ENSP00000354964:p.Ser653Leu					ZNF318_uc003ouw.2_RNA	p.S653L	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		4	2036	-			653					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.1958C>T	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	G	12.33	1.904184	0.33628	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.38887	1.11;2.18	2.17	2.17	0.27698	.	.	.	.	.	T	0.12817	0.0311	N	0.14661	0.345	0.19575	N	0.999969	P	0.38800	0.648	B	0.41174	0.349	T	0.07158	-1.0787	9	0.39692	T	0.17	.	7.8914	0.29680	0.0:0.0:1.0:0.0	.	653	Q5VUA4	ZN318_HUMAN	L	653	ENSP00000323032:S653L;ENSP00000354964:S653L	ENSP00000323032:S653L	S	-	2	0	ZNF318	43431092	0.021000	0.18746	0.280000	0.24747	0.855000	0.48748	0.240000	0.18042	1.529000	0.49120	0.655000	0.94253	TCA		0.537	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		28	83	0	0	0	0	28	83				
GPR110	266977	broad.mit.edu	37	6	46977268	46977268	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:46977268A>C	ENST00000371253.2	-	11	2118	c.1903T>G	c.(1903-1905)Ttg>Gtg	p.L635V	GPR110_ENST00000283297.5_Missense_Mutation_p.L438V|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	635					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TCAGCAATCAAGAGGGACAGG	0.458																																						uc003oyt.2		NA																	0				ovary(2)|pancreas(1)	3						c.(1903-1905)TTG>GTG		G-protein coupled receptor 110 isoform 1							134.0	98.0	110.0					6																	46977268		2203	4300	6503	SO:0001583	missense	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46977268A>C	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.1903T>G	6.37:g.46977268A>C	ENSP00000360299:p.Leu635Val					GPR110_uc011dwl.1_Missense_Mutation_p.L323V	p.L635V	NM_153840	NP_722582	Q5T601	GP110_HUMAN			11	2102	-			635			Helical; Name=2; (Potential).		Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	37	c.1903T>G	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	A	16.70	3.196964	0.58126	.	.	ENSG00000153292	ENST00000371253;ENST00000283297	T;T	0.48836	0.8;0.8	5.9	-1.97	0.07503	GPCR, family 2-like (1);	0.000000	0.46145	D	0.000310	T	0.60274	0.2256	M	0.86097	2.795	0.34948	D	0.750964	D	0.89917	1.0	D	0.87578	0.998	T	0.72931	-0.4142	10	0.87932	D	0	-13.9533	15.7194	0.77697	0.2739:0.0:0.7261:0.0	.	635	Q5T601	GP110_HUMAN	V	635;438	ENSP00000360299:L635V;ENSP00000283297:L438V	ENSP00000283297:L438V	L	-	1	2	GPR110	47085227	0.996000	0.38824	0.964000	0.40570	0.786000	0.44442	0.939000	0.28978	-0.237000	0.09739	-0.263000	0.10527	TTG		0.458	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		15	17	0	0	0	0	15	17				
MDN1	23195	broad.mit.edu	37	6	90384055	90384055	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:90384055G>T	ENST00000369393.3	-	79	13130	c.13015C>A	c.(13015-13017)Ctt>Att	p.L4339I	MDN1_ENST00000428876.1_Missense_Mutation_p.L4339I|MDN1_ENST00000468568.1_5'Flank|RP1-122O8.7_ENST00000438877.1_RNA			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4339					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCCTTGCTAAGTTCTGGTCCT	0.587																																						uc003pnn.1		NA																	0				ovary(8)|skin(2)	10						c.(13015-13017)CTT>ATT		MDN1, midasin homolog							105.0	97.0	99.0					6																	90384055		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90384055G>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.13015C>A	6.37:g.90384055G>T	ENSP00000358400:p.Leu4339Ile						p.L4339I	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	79	13131	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	4339					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.13015C>A	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	0.293	-0.978514	0.02197	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03212	4.01;4.01	4.58	2.78	0.32641	.	0.979742	0.08340	N	0.960969	T	0.00695	0.0023	N	0.16478	0.41	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48317	-0.9046	10	0.20046	T	0.44	.	2.5126	0.04660	0.1672:0.1505:0.5272:0.1552	.	4339	Q9NU22	MDN1_HUMAN	I	4339	ENSP00000358400:L4339I;ENSP00000413970:L4339I	ENSP00000358400:L4339I	L	-	1	0	MDN1	90440776	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	0.220000	0.17660	0.544000	0.28883	0.655000	0.94253	CTT		0.587	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			37	39	1	0	3.93e-24	6.6e-24	37	39				
SOBP	55084	broad.mit.edu	37	6	107824913	107824913	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:107824913A>C	ENST00000317357.5	+	2	808	c.149A>C	c.(148-150)aAg>aCg	p.K50T		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GGCTATGATAAGGTTGAATTA	0.388																																						uc003prx.2		NA																	0				ovary(1)	1						c.(148-150)AAG>ACG		sine oculis binding protein homolog							126.0	121.0	123.0					6																	107824913		1852	4099	5951	SO:0001583	missense	55084						metal ion binding	g.chr6:107824913A>C	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.149A>C	6.37:g.107824913A>C	ENSP00000318900:p.Lys50Thr					SOBP_uc003prw.1_Missense_Mutation_p.K50T	p.K50T	NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	2	653	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	50						Missense_Mutation	SNP	ENST00000317357.5	37	c.149A>C	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.630185	0.87660	.	.	ENSG00000112320	ENST00000317357	T	0.11821	2.74	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.19805	0.0476	L	0.38175	1.15	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.01762	-1.1279	10	0.72032	D	0.01	-13.0656	15.6495	0.77081	1.0:0.0:0.0:0.0	.	50	A7XYQ1	SOBP_HUMAN	T	50	ENSP00000318900:K50T	ENSP00000318900:K50T	K	+	2	0	SOBP	107931606	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.099000	0.63709	0.533000	0.62120	AAG		0.388	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		19	108	0	0	0	0	19	108				
RSPH4A	345895	broad.mit.edu	37	6	116949485	116949485	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:116949485G>C	ENST00000229554.5	+	3	1752	c.1615G>C	c.(1615-1617)Gaa>Caa	p.E539Q	RSPH4A_ENST00000368581.4_Missense_Mutation_p.E539Q|RSPH4A_ENST00000368580.4_Intron	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	539	Glu-rich.				axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TGATCTAGTAGAATCCCTATC	0.423									Kartagener syndrome																													uc003pxe.2		NA																	0					0						c.(1615-1617)GAA>CAA		radial spoke head 4 homolog A isoform 1							128.0	131.0	130.0					6																	116949485		2203	4300	6503	SO:0001583	missense	345895	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		g.chr6:116949485G>C		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.1615G>C	6.37:g.116949485G>C	ENSP00000229554:p.Glu539Gln					RSPH4A_uc010kee.2_Missense_Mutation_p.E539Q	p.E539Q	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN			3	1760	+			539			Glu-rich.		B4DSI1|Q3KP24|Q5TD95	Missense_Mutation	SNP	ENST00000229554.5	37	c.1615G>C	CCDS34521.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.317750	0.60524	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000447842	T;T	0.17370	2.28;2.28	5.86	5.86	0.93980	.	0.157368	0.56097	D	0.000034	T	0.22044	0.0531	L	0.53729	1.69	0.46586	D	0.999119	P;D	0.62365	0.875;0.991	P;P	0.57057	0.671;0.812	T	0.00441	-1.1737	10	0.26408	T	0.33	-12.7507	17.671	0.88217	0.0:0.0:1.0:0.0	.	539;539	Q5TD94-3;Q5TD94	.;RSH4A_HUMAN	Q	539;539;334	ENSP00000357570:E539Q;ENSP00000229554:E539Q	ENSP00000229554:E539Q	E	+	1	0	RSPH4A	117056178	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	4.178000	0.58284	2.778000	0.95560	0.655000	0.94253	GAA		0.423	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1	NM_001010892		25	144	0	0	0	0	25	144				
FAM162B	221303	broad.mit.edu	37	6	117086702	117086702	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:117086702C>T	ENST00000368557.4	-	1	184	c.38G>A	c.(37-39)cGc>cAc	p.R13H		NM_001085480.2	NP_001078949.1	Q5T6X4	F162B_HUMAN	family with sequence similarity 162, member B	13						integral component of membrane (GO:0016021)				large_intestine(2)|lung(4)	6						TGTTAGCCCGCGGCCAAGGCG	0.761																																						uc003pxi.2		NA																	0					0						c.(37-39)CGC>CAC		hypothetical protein LOC221303							2.0	3.0	3.0					6																	117086702		1427	3219	4646	SO:0001583	missense	221303					integral to membrane		g.chr6:117086702C>T	BC038997	CCDS43497.1	6q22.31	2014-01-28	2008-06-05	2008-06-05	ENSG00000183807	ENSG00000183807			21549	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 189"""	C6orf189			Standard	NM_001085480		Approved	bA86F4.2	uc003pxi.2	Q5T6X4	OTTHUMG00000015446	ENST00000368557.4:c.38G>A	6.37:g.117086702C>T	ENSP00000357545:p.Arg13His						p.R13H	NM_001085480	NP_001078949	Q5T6X4	F162B_HUMAN			1	185	-			13					Q8IXW8	Missense_Mutation	SNP	ENST00000368557.4	37	c.38G>A	CCDS43497.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.571673	0.28003	.	.	ENSG00000183807	ENST00000368557	T	0.44083	0.93	3.32	-4.83	0.03161	.	4.456110	0.00976	N	0.003318	T	0.09905	0.0243	N	0.22421	0.69	0.09310	N	1	D	0.57257	0.979	B	0.42771	0.397	T	0.10042	-1.0647	10	0.40728	T	0.16	3.0769	1.3591	0.02188	0.283:0.205:0.3629:0.1491	.	13	Q5T6X4	F162B_HUMAN	H	13	ENSP00000357545:R13H	ENSP00000357545:R13H	R	-	2	0	FAM162B	117193395	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.560000	0.05964	-0.915000	0.03823	-0.878000	0.02970	CGC		0.761	FAM162B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041965.1	XM_927381		7	6	0	0	0	0	7	6				
RFX6	222546	broad.mit.edu	37	6	117246774	117246774	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:117246774G>A	ENST00000332958.2	+	16	1853	c.1837G>A	c.(1837-1839)Gct>Act	p.A613T		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	613					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						CCTAGGCCCTGCTCTGCACCA	0.547																																						uc003pxm.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1837-1839)GCT>ACT		regulatory factor X, 6							77.0	69.0	72.0					6																	117246774		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.chr6:117246774G>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.1837G>A	6.37:g.117246774G>A	ENSP00000332208:p.Ala613Thr						p.A613T	NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN			16	1900	+			613					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.1837G>A	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.781161	0.31502	.	.	ENSG00000185002	ENST00000332958	T	0.55588	0.51	5.95	5.08	0.68730	.	0.216607	0.47852	D	0.000211	T	0.27832	0.0685	L	0.44542	1.39	0.27952	N	0.93711	B	0.27450	0.179	B	0.24974	0.057	T	0.21621	-1.0240	10	0.62326	D	0.03	-7.1919	12.113	0.53850	0.1372:0.0:0.8628:0.0	.	613	Q8HWS3	RFX6_HUMAN	T	613	ENSP00000332208:A613T	ENSP00000332208:A613T	A	+	1	0	RFX6	117353467	0.998000	0.40836	0.994000	0.49952	0.087000	0.18053	2.718000	0.47236	1.532000	0.49169	0.491000	0.48974	GCT		0.547	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		38	81	0	0	0	0	38	81				
LAMA2	3908	broad.mit.edu	37	6	129637001	129637001	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:129637001G>C	ENST00000421865.2	+	26	3879	c.3830G>C	c.(3829-3831)cGa>cCa	p.R1277P		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1277	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GTGATCATTCGAGGTGGGACA	0.443																																						uc003qbn.2		NA																	0				ovary(8)|breast(1)|skin(1)	10						c.(3829-3831)CGA>CCA		laminin alpha 2 subunit isoform a precursor							113.0	113.0	113.0					6																	129637001		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129637001G>C	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.3830G>C	6.37:g.129637001G>C	ENSP00000400365:p.Arg1277Pro					LAMA2_uc003qbo.2_Missense_Mutation_p.R1277P	p.R1277P	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	26	3935	+			1277			Laminin IV type A 2.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.3830G>C	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108555	0.77096	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.38077	1.16	5.55	5.55	0.83447	Laminin B type IV (2);Laminin B, subgroup (1);	0.131649	0.50627	D	0.000117	T	0.56016	0.1957	M	0.73962	2.25	0.47698	D	0.999493	D;D	0.76494	0.999;0.999	D;D	0.70227	0.968;0.958	T	0.56353	-0.7993	10	0.56958	D	0.05	.	19.8741	0.96863	0.0:0.0:1.0:0.0	.	1277;1277	A6NF00;P24043	.;LAMA2_HUMAN	P	1277	ENSP00000400365:R1277P	ENSP00000346769:R1277P	R	+	2	0	LAMA2	129678694	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.061000	0.64319	2.761000	0.94854	0.655000	0.94253	CGA		0.443	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			141	71	0	0	0	0	141	71				
TMEM181	57583	broad.mit.edu	37	6	159050835	159050835	+	Silent	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:159050835G>A	ENST00000367090.3	+	15	1688	c.1677G>A	c.(1675-1677)tcG>tcA	p.S559S		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	559					pathogenesis (GO:0009405)	integral component of membrane (GO:0016021)	toxic substance binding (GO:0015643)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		ATTCTCCATCGAAGAATGCCC	0.542																																						uc003qrm.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1675-1677)TCG>TCA		G protein-coupled receptor 178							147.0	143.0	144.0					6																	159050835		1927	4127	6054	SO:0001819	synonymous_variant	57583				pathogenesis	integral to membrane	toxin binding	g.chr6:159050835G>A	AB037844	CCDS43520.1	6q25.3	2012-08-10	2006-10-19	2006-10-19	ENSG00000146433	ENSG00000146433			20958	protein-coding gene	gene with protein product		613209	"""G protein-coupled receptor 178"", ""KIAA1423"""	KIAA1423, GPR178		16452613	Standard	NM_020823		Approved		uc003qrm.4	Q9P2C4	OTTHUMG00000015913	ENST00000367090.3:c.1677G>A	6.37:g.159050835G>A							p.S559S	NM_020823	NP_065874	Q9P2C4	TM181_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)	15	1688	+		Breast(66;0.000776)|Ovarian(120;0.0303)	559					Q5VTU1	Silent	SNP	ENST00000367090.3	37	c.1677G>A	CCDS43520.1																																																																																				0.542	TMEM181-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042873.1	NM_020823		41	42	0	0	0	0	41	42				
AGPAT4	56895	broad.mit.edu	37	6	161575210	161575210	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:161575210G>A	ENST00000320285.4	-	4	693	c.481C>T	c.(481-483)Cac>Tac	p.H161Y	AGPAT4_ENST00000366908.5_3'UTR|AGPAT4_ENST00000457520.2_Intron|AGPAT4_ENST00000366906.5_Missense_Mutation_p.H99Y|AGPAT4_ENST00000366911.5_Missense_Mutation_p.A104V	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	161					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		TCCCGGAGGTGCTGCAAACTG	0.567																																						uc003qtr.1		NA																	0					0						c.(481-483)CAC>TAC		1-acylglycerol-3-phosphate O-acyltransferase 4							122.0	108.0	113.0					6																	161575210		2203	4300	6503	SO:0001583	missense	56895				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding	g.chr6:161575210G>A	AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20885	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, delta"""	614795	"""1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)"""				Standard	XM_005267052		Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.481C>T	6.37:g.161575210G>A	ENSP00000314036:p.His161Tyr					AGPAT4_uc003qts.1_Missense_Mutation_p.H21Y|AGPAT4_uc011egb.1_Intron|AGPAT4_uc003qtt.1_RNA|AGPAT4_uc011egc.1_Missense_Mutation_p.H161Y|AGPAT4_uc011egd.1_Missense_Mutation_p.H99Y|AGPAT4_uc011ege.1_Missense_Mutation_p.A104V	p.H161Y	NM_020133	NP_064518	Q9NRZ5	PLCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)	4	708	-		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)	161					B4DSF9|Q5TEF0	Missense_Mutation	SNP	ENST00000320285.4	37	c.481C>T	CCDS5280.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.71|15.71	2.913684|2.913684	0.52439|0.52439	.|.	.|.	ENSG00000026652|ENSG00000026652	ENST00000366911|ENST00000320285;ENST00000366906	.|D;D	.|0.92965	.|-3.14;-3.14	4.17|4.17	2.23|2.23	0.28157|0.28157	.|Phospholipid/glycerol acyltransferase (2);	.|0.049383	.|0.85682	.|D	.|0.000000	T|T	0.79736|0.79736	0.4497|0.4497	N|N	0.17248|0.17248	0.465|0.465	0.80722|0.80722	D|D	1|1	B|P;P	0.14438|0.48911	0.01|0.917;0.714	B|P;B	0.12156|0.48368	0.007|0.575;0.251	T|T	0.79232|0.79232	-0.1888|-0.1888	8|10	0.87932|0.66056	D|D	0|0.02	-28.996|-28.996	5.7599|5.7599	0.18195|0.18195	0.1104:0.0:0.3784:0.5112|0.1104:0.0:0.3784:0.5112	.|.	104|161;161	B4DIY1|B4DHC0;Q9NRZ5	.|.;PLCD_HUMAN	V|Y	104|161;99	.|ENSP00000314036:H161Y;ENSP00000355873:H99Y	ENSP00000355878:A104V|ENSP00000314036:H161Y	A|H	-|-	2|1	0|0	AGPAT4|AGPAT4	161495200|161495200	1.000000|1.000000	0.71417|0.71417	0.380000|0.380000	0.26093|0.26093	0.058000|0.058000	0.15608|0.15608	5.199000|5.199000	0.65152|0.65152	0.332000|0.332000	0.23536|0.23536	0.651000|0.651000	0.88453|0.88453	GCA|CAC		0.567	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042983.1	NM_020133		24	38	0	0	0	0	24	38				
GPR31	2853	broad.mit.edu	37	6	167570533	167570533	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:167570533T>C	ENST00000366834.1	-	1	1284	c.787A>G	c.(787-789)Acc>Gcc	p.T263A		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	263					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		ACATCCGAGGTATGAGCCACT	0.587																																						uc011egq.1		NA																	0					0						c.(787-789)ACC>GCC		G protein-coupled receptor 31							88.0	89.0	89.0					6																	167570533		2203	4300	6503	SO:0001583	missense	2853					integral to plasma membrane	G-protein coupled receptor activity	g.chr6:167570533T>C	U65402	CCDS5299.1	6q27	2012-08-21				ENSG00000120436		"""GPCR / Class A : Orphans"""	4486	protein-coding gene	gene with protein product	"""hydroxyeicosatetraenoic (HETE) acid receptor 1"", ""12-(S)-HETE acid receptor"""	602043				9205127, 21712392	Standard	NM_005299		Approved	HETER1, 12-HETER	uc011egq.2	O00270		ENST00000366834.1:c.787A>G	6.37:g.167570533T>C	ENSP00000355799:p.Thr263Ala						p.T263A	NM_005299	NP_005290	O00270	GPR31_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)	1	787	-		Breast(66;1.53e-05)|Ovarian(120;0.0606)	263			Extracellular (Potential).		B0M0K2|Q4VBL3|Q9NQ20	Missense_Mutation	SNP	ENST00000366834.1	37	c.787A>G	CCDS5299.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.496266	0.00159	.	.	ENSG00000120436	ENST00000366834	T	0.35236	1.32	3.54	-3.45	0.04781	GPCR, rhodopsin-like superfamily (1);	2.051730	0.03138	N	0.166128	T	0.02533	0.0077	N	0.01522	-0.82	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.17137	-1.0379	10	0.02654	T	1	-4.8884	6.2101	0.20623	0.1218:0.4191:0.0:0.4591	.	263	O00270	GPR31_HUMAN	A	263	ENSP00000355799:T263A	ENSP00000355799:T263A	T	-	1	0	GPR31	167490523	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.031000	0.12287	-0.821000	0.04312	0.260000	0.18958	ACC		0.587	GPR31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043111.1	NM_005299		32	43	0	0	0	0	32	43				
THBS2	7058	broad.mit.edu	37	6	169640559	169640559	+	Silent	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:169640559C>G	ENST00000366787.3	-	7	1269	c.1020G>C	c.(1018-1020)acG>acC	p.T340T	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	340	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.T340T(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TGCAGGTACACGTGGTGCAGC	0.572																																					Esophageal Squamous(91;219 1934 18562 44706)	uc003qwt.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(5)	5						c.(1018-1020)ACG>ACC		thrombospondin 2 precursor							99.0	92.0	95.0					6																	169640559		2203	4300	6503	SO:0001819	synonymous_variant	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169640559C>G		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.1020G>C	6.37:g.169640559C>G							p.T340T	NM_003247	NP_003238	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	7	1268	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	340			VWFC.		A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	c.1020G>C	CCDS34574.1																																																																																				0.572	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		21	32	0	0	0	0	21	32				
RADIL	55698	broad.mit.edu	37	7	4839063	4839063	+	Silent	SNP	C	C	T	rs377481818	byFrequency	TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr7:4839063C>T	ENST00000399583.3	-	15	3361	c.3174G>A	c.(3172-3174)gcG>gcA	p.A1058A	RADIL_ENST00000538469.1_Silent_p.A818A|RADIL_ENST00000536091.1_3'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	1058	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CGTCGGACTTCGCGACCAGGA	0.647													G|||	3	0.000599042	0.0023	0.0	5008	,	,		13121	0.0		0.0	False		,,,				2504	0.0					uc003snj.1		NA																	0				lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7						c.(3172-3174)GCG>GCA		Rap GTPase interactor		G		6,3970		0,6,1982	78.0	84.0	82.0		3174	4.9	1.0	7		82	0,8328		0,0,4164	no	coding-synonymous	RADIL	NM_018059.4		0,6,6146	TT,TC,CC		0.0,0.1509,0.0488		1058/1076	4839063	6,12298	1988	4164	6152	SO:0001819	synonymous_variant	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4839063C>T	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.3174G>A	7.37:g.4839063C>T						RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_Silent_p.A563A|RADIL_uc011jwc.1_Silent_p.A818A|RADIL_uc011jwd.1_RNA|RADIL_uc003snh.1_Silent_p.A354A	p.A1058A	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	15	3347	-		Ovarian(82;0.0175)	1058			PDZ.		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Silent	SNP	ENST00000399583.3	37	c.3174G>A	CCDS43544.1																																																																																				0.647	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		124	48	0	0	0	0	124	48				
MEOX2	4223	broad.mit.edu	37	7	15652017	15652017	+	Silent	SNP	A	A	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr7:15652017A>G	ENST00000262041.5	-	3	1319	c.910T>C	c.(910-912)Tta>Cta	p.L304L		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	304					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		TTATATCATAAGTGCGCATGC	0.478																																					Esophageal Squamous(140;197 1769 16409 18257 29929)	uc003stc.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(910-912)TTA>CTA		mesenchyme homeobox 2							115.0	99.0	104.0					7																	15652017		2203	4300	6503	SO:0001819	synonymous_variant	4223				blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:15652017A>G		CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"""Homeoboxes / ANTP class : HOXL subclass"""	7014	protein-coding gene	gene with protein product	"""growth arrest-specific homeobox"""	600535	"""mesenchyme homeo box 2 (growth arrest-specific homeo box)"", ""mesenchyme homeobox 2 (growth arrest-specific homeo box)"""	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.910T>C	7.37:g.15652017A>G						MEOX2_uc011jxw.1_Silent_p.L304L	p.L304L	NM_005924	NP_005915	P50222	MEOX2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)	3	1191	-			304					B2R8I7|O75263|Q9UPL6	Silent	SNP	ENST00000262041.5	37	c.910T>C	CCDS34605.1																																																																																				0.478	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326058.2	NM_005924		9	204	0	0	0	0	9	204				
DNAH11	8701	broad.mit.edu	37	7	21639563	21639563	+	Silent	SNP	G	G	T	rs368794820		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr7:21639563G>T	ENST00000409508.3	+	15	2857	c.2826G>T	c.(2824-2826)ccG>ccT	p.P942P	DNAH11_ENST00000328843.6_Silent_p.P942P	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	942	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AACCGGCACCGTTTTTTCAAG	0.408									Kartagener syndrome																													uc003svc.2		NA																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(2824-2826)CCG>CCT		dynein, axonemal, heavy chain 11							85.0	80.0	82.0					7																	21639563		1844	4086	5930	SO:0001819	synonymous_variant	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21639563G>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.2826G>T	7.37:g.21639563G>T							p.P942P	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			15	2857	+			942			Stem (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.2826G>T																																																																																					0.408	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		45	19	1	0	1.16e-17	1.93e-17	45	19				
AKAP9	10142	broad.mit.edu	37	7	91630769	91630769	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr7:91630769A>T	ENST00000359028.2	+	9	1799	c.1574A>T	c.(1573-1575)aAg>aTg	p.K525M	AKAP9_ENST00000356239.3_Missense_Mutation_p.K513M|AKAP9_ENST00000358100.2_Missense_Mutation_p.K525M			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	525	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAAAAACTCAAGGAAGAACTA	0.323			T	BRAF	papillary thyroid																																	uc003ulg.2		NA		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(1537-1539)AAG>ATG		A-kinase anchor protein 9 isoform 2							60.0	67.0	65.0					7																	91630769		2200	4298	6498	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91630769A>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.1574A>T	7.37:g.91630769A>T	ENSP00000351922:p.Lys525Met					AKAP9_uc003ule.2_Missense_Mutation_p.K525M|AKAP9_uc003ulf.2_Missense_Mutation_p.K513M|AKAP9_uc003uli.2_Missense_Mutation_p.K138M	p.K513M	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		8	1763	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		525			Glu-rich.|Potential.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.1538A>T		.	.	.	.	.	.	.	.	.	.	A	10.04	1.241988	0.22796	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.50001	0.76;0.76;0.76	5.62	-1.28	0.09318	.	0.495590	0.17084	N	0.187646	T	0.51873	0.1700	L	0.53249	1.67	0.38745	D	0.953979	D;D;B;D	0.67145	0.99;0.994;0.065;0.996	P;P;B;D	0.64144	0.647;0.808;0.048;0.922	T	0.55471	-0.8136	10	0.87932	D	0	.	4.0567	0.09819	0.5033:0.0:0.2648:0.2319	.	525;513;513;525	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	M	513;525;525;525;525	ENSP00000348573:K513M;ENSP00000351922:K525M;ENSP00000350813:K525M	ENSP00000348573:K513M	K	+	2	0	AKAP9	91468705	1.000000	0.71417	0.993000	0.49108	0.822000	0.46500	0.897000	0.28390	-0.061000	0.13110	-0.333000	0.08304	AAG		0.323	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		18	51	0	0	0	0	18	51				
METTL2B	55798	broad.mit.edu	37	7	128119472	128119472	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr7:128119472C>T	ENST00000262432.8	+	3	500	c.463C>T	c.(463-465)Cct>Tct	p.P155S	RP11-212P7.3_ENST00000462662.1_RNA|METTL2B_ENST00000480046.1_Missense_Mutation_p.P90S	NM_018396.2	NP_060866.2	Q6P1Q9	MET2B_HUMAN	methyltransferase like 2B	155					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						AACACAGACACCTCCTGTGGA	0.423																																						uc003vnf.2		NA																	0				skin(1)	1						c.(463-465)CCT>TCT		methyltransferase like 2B							161.0	179.0	173.0					7																	128119472		2203	4300	6503	SO:0001583	missense	55798						methyltransferase activity	g.chr7:128119472C>T	AK002212	CCDS5803.2	7q32.2	2012-06-12	2006-02-09	2006-02-09	ENSG00000165055	ENSG00000165055			18272	protein-coding gene	gene with protein product		607846	"""methyltransferase like 2"""	METTL2		11738826	Standard	NM_018396		Approved	METL, FLJ11350	uc003vnf.3	Q6P1Q9	OTTHUMG00000143738	ENST00000262432.8:c.463C>T	7.37:g.128119472C>T	ENSP00000262432:p.Pro155Ser					METTL2B_uc003vng.2_Missense_Mutation_p.P90S|METTL2B_uc011kop.1_Missense_Mutation_p.P19S	p.P155S	NM_018396	NP_060866	Q6P1Q9	MTL2B_HUMAN			3	500	+			155					B4DZ68|Q0IJ54|Q3B7J1	Missense_Mutation	SNP	ENST00000262432.8	37	c.463C>T	CCDS5803.2	.	.	.	.	.	.	.	.	.	.	C	0.441	-0.898638	0.02472	.	.	ENSG00000165055	ENST00000462662;ENST00000262432;ENST00000480046	T;T;T	0.80994	2.33;-1.44;2.85	2.65	0.729	0.18266	.	1.248910	0.05214	N	0.507338	T	0.69886	0.3161	L	0.43152	1.355	0.09310	N	1	B;B	0.21821	0.022;0.061	B;B	0.22152	0.014;0.038	T	0.46843	-0.9162	10	0.10377	T	0.69	7.0E-4	4.1367	0.10174	0.0:0.6141:0.24:0.1459	.	90;155	Q6P1Q9-2;Q6P1Q9	.;MTL2B_HUMAN	S	149;155;90	ENSP00000418634:P149S;ENSP00000262432:P155S;ENSP00000418402:P90S	ENSP00000262432:P155S	P	+	1	0	METTL2B	127906708	0.000000	0.05858	0.001000	0.08648	0.062000	0.15995	-1.537000	0.02206	0.033000	0.15463	-0.520000	0.04383	CCT		0.423	METTL2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289817.1	NM_018396		9	98	0	0	0	0	9	98				
MEST	4232	broad.mit.edu	37	7	130139737	130139737	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr7:130139737G>A	ENST00000223215.4	+	7	778	c.557G>A	c.(556-558)cGt>cAt	p.R186H	MEST_ENST00000393187.1_Missense_Mutation_p.R177H|MEST_ENST00000462132.1_3'UTR|MEST_ENST00000437945.1_Missense_Mutation_p.R186H|MEST_ENST00000341441.5_Missense_Mutation_p.R177H|MEST_ENST00000416162.2_Missense_Mutation_p.R177H|MEST_ENST00000378576.4_Missense_Mutation_p.R177H|hsa-mir-335_ENST00000604666.1_RNA	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript	186					mesoderm development (GO:0007498)|regulation of lipid storage (GO:0010883)|response to retinoic acid (GO:0032526)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					GAGACTCACCGTCCACTCCTT	0.388																																					Colon(126;2182 2305 6517 35181)	uc003vqg.2		NA																	0				ovary(2)	2						c.(556-558)CGT>CAT		mesoderm specific transcript isoform a							101.0	90.0	94.0					7																	130139737		2203	4300	6503	SO:0001583	missense	4232				mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding	g.chr7:130139737G>A		CCDS5822.1, CCDS5823.1, CCDS59081.1	7q32	2014-08-22	2012-12-07		ENSG00000106484	ENSG00000106484			7028	protein-coding gene	gene with protein product	"""Paternally-expressed gene 1"""	601029	"""mesoderm specific transcript (mouse) homolog"", ""mesoderm specific transcript homolog (mouse)"""			8884280	Standard	NM_002402		Approved	PEG1	uc003vqg.3	Q5EB52	OTTHUMG00000156661	ENST00000223215.4:c.557G>A	7.37:g.130139737G>A	ENSP00000223215:p.Arg186His					MEST_uc003vqc.2_Missense_Mutation_p.R177H|MEST_uc003vqd.2_Missense_Mutation_p.R177H|MEST_uc003vqf.2_Missense_Mutation_p.R177H|MEST_uc011kph.1_Missense_Mutation_p.R172H|MEST_uc010lmg.2_Missense_Mutation_p.R186H	p.R186H	NM_002402	NP_002393	Q5EB52	MEST_HUMAN			7	774	+	Melanoma(18;0.0435)		186					B2R6S1|O14973|O15007|Q6AI49|Q92571	Missense_Mutation	SNP	ENST00000223215.4	37	c.557G>A	CCDS5822.1	.	.	.	.	.	.	.	.	.	.	G	9.253	1.041134	0.19669	.	.	ENSG00000106484	ENST00000341441;ENST00000427521;ENST00000416162;ENST00000378576;ENST00000393187;ENST00000421001;ENST00000223215;ENST00000437945	T;T;T;T;T;T;T;T	0.68765	-0.35;-0.2;-0.2;-0.2;-0.35;-0.35;-0.35;-0.35	5.93	2.81	0.32909	.	0.348665	0.36409	N	0.002614	T	0.34077	0.0885	N	0.02345	-0.59	0.29775	N	0.83444	B;B;B;B	0.10296	0.003;0.002;0.0;0.0	B;B;B;B	0.15484	0.013;0.001;0.001;0.0	T	0.18524	-1.0334	10	0.20046	T	0.44	-4.253	5.8165	0.18495	0.4194:0.0:0.5806:0.0	.	172;186;186;177	B4DQW6;C9JW74;Q5EB52;Q5EB52-3	.;.;MEST_HUMAN;.	H	177;177;177;177;177;177;186;186	ENSP00000342749:R177H;ENSP00000409505:R177H;ENSP00000408933:R177H;ENSP00000367839:R177H;ENSP00000376884:R177H;ENSP00000407222:R177H;ENSP00000223215:R186H;ENSP00000401657:R186H	ENSP00000223215:R186H	R	+	2	0	MEST	129926973	1.000000	0.71417	0.989000	0.46669	0.905000	0.53344	3.451000	0.52964	0.860000	0.35481	-0.162000	0.13425	CGT		0.388	MEST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345183.2	NM_002402		16	52	0	0	0	0	16	52				
KIAA1549	57670	broad.mit.edu	37	7	138603742	138603742	+	Silent	SNP	C	C	T	rs372624833	byFrequency	TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr7:138603742C>T	ENST00000422774.1	-	2	678	c.630G>A	c.(628-630)tcG>tcA	p.S210S	KIAA1549_ENST00000242365.4_Silent_p.S160S|KIAA1549_ENST00000440172.1_Silent_p.S210S			Q9HCM3	K1549_HUMAN	KIAA1549	210						integral component of membrane (GO:0016021)		p.S160S(1)|p.S210S(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TCTGCCAGCCCGATGTCACTT	0.522			O	BRAF	pilocytic astrocytoma								C|||	2	0.000399361	0.0015	0.0	5008	,	,		20918	0.0		0.0	False		,,,				2504	0.0				NSCLC(119;1534 1718 44213 46230 50068)	uc011kql.1		NA		Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(229)	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(229)|pancreas(1)	230						c.(628-630)TCG>TCA		hypothetical protein LOC57670 isoform 1		C	,	2,4198		0,2,2098	161.0	168.0	166.0		630,630	-8.2	0.0	7		166	0,8434		0,0,4217	no	coding-synonymous,coding-synonymous	KIAA1549	NM_001164665.1,NM_020910.2	,	0,2,6315	TT,TC,CC		0.0,0.0476,0.0158	,	210/1951,210/1935	138603742	2,12632	2100	4217	6317	SO:0001819	synonymous_variant	57670					integral to membrane		g.chr7:138603742C>T		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.630G>A	7.37:g.138603742C>T						KIAA1549_uc003vuk.3_Silent_p.S160S|KIAA1549_uc011kqj.1_Silent_p.S210S	p.S210S	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN			2	679	-			210					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Silent	SNP	ENST00000422774.1	37	c.630G>A	CCDS56513.1																																																																																				0.522	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			6	129	0	0	0	0	6	129				
GIMAP1	170575	broad.mit.edu	37	7	150417387	150417387	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr7:150417387G>A	ENST00000307194.5	+	3	435	c.295G>A	c.(295-297)Gag>Aag	p.E99K		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	99	AIG1-type G.				B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCTGGCTGTGAGGAGAGAGG	0.647																																						uc003whq.2		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(295-297)GAG>AAG		GTPase, IMAP family member 1							50.0	46.0	47.0					7																	150417387		2203	4300	6503	SO:0001583	missense	170575					endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr7:150417387G>A	AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"""GTPases, IMAP"""	23237	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 2"""	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.295G>A	7.37:g.150417387G>A	ENSP00000302833:p.Glu99Lys					GIMAP1_uc003whp.2_Missense_Mutation_p.E107K	p.E99K	NM_130759	NP_570115	Q8WWP7	GIMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	382	+			99			Cytoplasmic (Potential).		B2RCI3|Q8NAZ0	Missense_Mutation	SNP	ENST00000307194.5	37	c.295G>A	CCDS5906.1	.	.	.	.	.	.	.	.	.	.	G	0.744	-0.775451	0.02951	.	.	ENSG00000213203	ENST00000307194	T	0.60040	0.22	4.5	-9.01	0.00744	AIG1 (1);	0.902420	0.09196	U	0.835312	T	0.13415	0.0325	N	0.00879	-1.12	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.18116	-1.0347	10	0.02654	T	1	.	0.648	0.00821	0.2739:0.2596:0.1188:0.3477	.	99	Q8WWP7	GIMA1_HUMAN	K	99	ENSP00000302833:E99K	ENSP00000302833:E99K	E	+	1	0	GIMAP1	150048320	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-5.702000	0.00103	-2.440000	0.00550	0.655000	0.94253	GAG		0.647	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	NM_130759		22	45	0	0	0	0	22	45				
NUB1	51667	broad.mit.edu	37	7	151073852	151073852	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr7:151073852G>C	ENST00000355851.4	+	14	1701	c.1624G>C	c.(1624-1626)Gaa>Caa	p.E542Q	WDR86_ENST00000463000.1_5'UTR|NUB1_ENST00000568733.1_Missense_Mutation_p.E566Q|NUB1_ENST00000413040.2_Missense_Mutation_p.E552Q|NUB1_ENST00000566856.1_Missense_Mutation_p.E528Q	NM_001243351.1	NP_001230280.1	Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	542					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|response to interferon-gamma (GO:0034341)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		GCTGTCGCCAGAAGACTCTTT	0.612																																						uc003wjx.2		NA																	0					0						c.(1696-1698)GAA>CAA		NEDD8 ultimate buster-1							13.0	20.0	17.0					7																	151073852		2126	4235	6361	SO:0001583	missense	51667				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding	g.chr7:151073852G>C	AF300717	CCDS47751.1, CCDS47751.2, CCDS59089.1	7q36	2006-07-27			ENSG00000013374	ENSG00000013374			17623	protein-coding gene	gene with protein product	"""NEDD8 ultimate buster-1"""	607981				10508479, 11259415	Standard	NM_001243351		Approved	BS4, NYREN18	uc003wjx.3	Q9Y5A7	OTTHUMG00000157365	ENST00000355851.4:c.1624G>C	7.37:g.151073852G>C	ENSP00000348110:p.Glu542Gln					NUB1_uc003wjw.2_Missense_Mutation_p.E528Q|NUB1_uc010lqc.2_RNA	p.E566Q	NM_016118	NP_057202	Q9Y5A7	NUB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)	14	1701	+			542					O95422|Q75MR9|Q8IX22|Q9BXR2	Missense_Mutation	SNP	ENST00000355851.4	37	c.1696G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.85|12.85	2.060686|2.060686	0.36373|0.36373	.|.	.|.	ENSG00000013374|ENSG00000013374	ENST00000413040;ENST00000355851|ENST00000460712	T|.	0.44881|.	0.91|.	5.23|5.23	4.33|4.33	0.51752|0.51752	UBA-like (1);|.	0.632643|.	0.16455|.	N|.	0.213681|.	T|T	0.52075|0.52075	0.1712|0.1712	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	0.999993|0.999993	P;B|.	0.38250|.	0.624;0.29|.	B;B|.	0.35413|.	0.154;0.202|.	T|T	0.44314|0.44314	-0.9336|-0.9336	10|5	0.20519|.	T|.	0.43|.	-20.0638|-20.0638	14.9339|14.9339	0.70938|0.70938	0.0:0.1435:0.8565:0.0|0.0:0.1435:0.8565:0.0	.|.	542;528|.	Q9Y5A7;Q9Y5A7-2|.	NUB1_HUMAN;.|.	Q|H	528;542|128	ENSP00000348110:E542Q|.	ENSP00000348110:E542Q|.	E|Q	+|+	1|3	0|2	NUB1|NUB1	150704785|150704785	0.828000|0.828000	0.29307|0.29307	0.024000|0.024000	0.17045|0.17045	0.020000|0.020000	0.10135|0.10135	2.524000|2.524000	0.45589|0.45589	1.396000|1.396000	0.46663|0.46663	0.591000|0.591000	0.81541|0.81541	GAA|CAG		0.612	NUB1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_016118		2	7	0	0	0	0	2	7				
KMT2C	58508	broad.mit.edu	37	7	151945611	151945611	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr7:151945611A>C	ENST00000262189.6	-	14	2126	c.1908T>G	c.(1906-1908)caT>caG	p.H636Q	KMT2C_ENST00000355193.2_Missense_Mutation_p.H636Q	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	636					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CGCCACAAATATGCTTCACTT	0.363																																						uc003wla.2		NA								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(1906-1908)CAT>CAG		myeloid/lymphoid or mixed-lineage leukemia 3							60.0	57.0	58.0					7																	151945611		2203	4299	6502	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151945611A>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1908T>G	7.37:g.151945611A>C	ENSP00000262189:p.His636Gln						p.H636Q	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	14	2127	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	636					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.1908T>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	A	1.261	-0.615732	0.03663	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.82803	-1.64;-1.65	5.23	-3.74	0.04385	.	0.490859	0.17005	N	0.190725	T	0.63604	0.2525	L	0.41236	1.265	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.46952	-0.9154	10	0.13470	T	0.59	.	0.1793	0.00122	0.2779:0.194:0.2527:0.2754	.	636	Q8NEZ4	MLL3_HUMAN	Q	636	ENSP00000262189:H636Q;ENSP00000347325:H636Q	ENSP00000262189:H636Q	H	-	3	2	MLL3	151576544	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	0.169000	0.16641	-0.203000	0.10251	-0.297000	0.09499	CAT		0.363	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			21	44	0	0	0	0	21	44				
PTDSS1	9791	broad.mit.edu	37	8	97321825	97321825	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr8:97321825G>C	ENST00000517309.1	+	9	1374	c.1048G>C	c.(1048-1050)Gta>Cta	p.V350L	PTDSS1_ENST00000522072.1_Missense_Mutation_p.V147L|PTDSS1_ENST00000455950.2_Missense_Mutation_p.V204L|Y_RNA_ENST00000362862.1_RNA	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	350					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	GTGCAAGCGCGTAGGAACACA	0.433																																						uc003yht.1		NA																	0				ovary(1)	1						c.(1048-1050)GTA>CTA		phosphatidylserine synthase 1	Phosphatidylserine(DB00144)						97.0	90.0	92.0					8																	97321825		2203	4300	6503	SO:0001583	missense	9791				phosphatidylserine biosynthetic process	integral to membrane	transferase activity	g.chr8:97321825G>C	D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.1048G>C	8.37:g.97321825G>C	ENSP00000430548:p.Val350Leu					PTDSS1_uc003yhu.1_Missense_Mutation_p.V204L	p.V350L	NM_014754	NP_055569	P48651	PTSS1_HUMAN			9	1150	+	Breast(36;6.18e-05)		350					E5RFC5|Q9BUQ5	Missense_Mutation	SNP	ENST00000517309.1	37	c.1048G>C	CCDS6271.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541339	0.85917	.	.	ENSG00000156471	ENST00000517309;ENST00000455950;ENST00000522072	T;T;T	0.39997	1.11;1.12;1.05	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.40670	0.1126	N	0.20807	0.61	0.80722	D	1	P	0.35780	0.52	P	0.47864	0.559	T	0.08700	-1.0709	10	0.10902	T	0.67	-13.7834	18.224	0.89911	0.0:0.0:1.0:0.0	.	350	P48651	PTSS1_HUMAN	L	350;204;147	ENSP00000430548:V350L;ENSP00000401248:V204L;ENSP00000430928:V147L	ENSP00000401248:V204L	V	+	1	0	PTDSS1	97391001	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.837000	0.99465	2.731000	0.93534	0.650000	0.86243	GTA		0.433	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2			6	48	0	0	0	0	6	48				
FAM83A	84985	broad.mit.edu	37	8	124204207	124204207	+	Silent	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr8:124204207C>T	ENST00000518448.1	+	3	2659	c.645C>T	c.(643-645)ctC>ctT	p.L215L	FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000522648.1_Intron|FAM83A_ENST00000536633.1_Silent_p.L215L|FAM83A_ENST00000318462.6_Silent_p.L215L|FAM83A_ENST00000276699.6_Silent_p.L215L			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	215										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			ACAGTCACCTCAAGGTAGGGG	0.488																																						uc003ypv.2		NA																	0				ovary(3)|skin(1)	4						c.(643-645)CTC>CTT		hypothetical protein LOC84985 isoform a							133.0	121.0	125.0					8																	124204207		2203	4300	6503	SO:0001819	synonymous_variant	84985							g.chr8:124204207C>T	BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.645C>T	8.37:g.124204207C>T						FAM83A_uc003ypw.2_Silent_p.L215L|FAM83A_uc003ypy.2_Intron|FAM83A_uc003ypx.2_Silent_p.L215L|FAM83A_uc003ypz.2_Silent_p.L215L	p.L215L	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	2659	+	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		215					Q71HL2|Q8N7I1|Q96I47	Silent	SNP	ENST00000518448.1	37	c.645C>T	CCDS6340.1																																																																																				0.488	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381737.1	NM_032899		38	174	0	0	0	0	38	174				
FAM135B	51059	broad.mit.edu	37	8	139163587	139163587	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr8:139163587A>T	ENST00000395297.1	-	13	3301	c.3131T>A	c.(3130-3132)tTc>tAc	p.F1044Y		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1044								p.F1044C(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CACAGATGAGAAAGGGAGACA	0.532										HNSCC(54;0.14)																												uc003yuy.2		NA																	2	Substitution - Missense(2)		large_intestine(2)	ovary(7)|skin(2)	9						c.(3130-3132)TTC>TAC		hypothetical protein LOC51059							65.0	64.0	64.0					8																	139163587		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139163587A>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3131T>A	8.37:g.139163587A>T	ENSP00000378710:p.Phe1044Tyr	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.F945Y|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.F606Y|FAM135B_uc003yvb.2_Missense_Mutation_p.F606Y	p.F1044Y	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	3302	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1044					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.3131T>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	A	27.3	4.823095	0.90873	.	.	ENSG00000147724	ENST00000395297	T	0.21543	2.0	5.32	5.32	0.75619	.	0.056910	0.64402	D	0.000001	T	0.48059	0.1479	M	0.77103	2.36	0.46028	D	0.998823	D;D;D	0.89917	1.0;1.0;0.992	D;D;P	0.91635	0.999;0.999;0.715	T	0.51872	-0.8650	10	0.66056	D	0.02	-25.1287	14.4636	0.67467	1.0:0.0:0.0:0.0	.	1044;1044;1044	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	Y	1044	ENSP00000378710:F1044Y	ENSP00000276737:F1044Y	F	-	2	0	FAM135B	139232769	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.962000	0.93254	2.020000	0.59435	0.528000	0.53228	TTC		0.532	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		34	46	0	0	0	0	34	46				
PLEC	5339	broad.mit.edu	37	8	144996309	144996309	+	Silent	SNP	A	A	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr8:144996309A>G	ENST00000322810.4	-	32	8260	c.8091T>C	c.(8089-8091)caT>caC	p.H2697H	PLEC_ENST00000354958.2_Silent_p.H2538H|PLEC_ENST00000345136.3_Silent_p.H2560H|PLEC_ENST00000354589.3_Silent_p.H2560H|PLEC_ENST00000398774.2_Silent_p.H2528H|PLEC_ENST00000527096.1_Silent_p.H2583H|PLEC_ENST00000356346.3_Silent_p.H2546H|PLEC_ENST00000357649.2_Silent_p.H2564H|PLEC_ENST00000436759.2_Silent_p.H2587H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2697	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTCGGCCTCATGCTGCCGCC	0.706																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(8089-8091)CAT>CAC		plectin isoform 1							6.0	6.0	6.0					8																	144996309		2075	4084	6159	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144996309A>G	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8091T>C	8.37:g.144996309A>G						PLEC_uc003zab.1_Silent_p.H2560H|PLEC_uc003zac.1_Silent_p.H2564H|PLEC_uc003zad.2_Silent_p.H2560H|PLEC_uc003zae.1_Silent_p.H2528H|PLEC_uc003zag.1_Silent_p.H2538H|PLEC_uc003zah.2_Silent_p.H2546H|PLEC_uc003zaj.2_Silent_p.H2587H	p.H2697H	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	8261	-			2697			Central fibrous rod domain.|Potential.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.8091T>C	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	a	3.313	-0.140369	0.06669	.	.	ENSG00000178209	ENST00000527303	.	.	.	4.05	-8.11	0.01082	.	.	.	.	.	T	0.37019	0.0988	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40478	-0.9561	4	.	.	.	.	3.7302	0.08489	0.1659:0.2559:0.4343:0.1439	.	.	.	.	T	130	.	.	M	-	2	0	PLEC	145068297	0.000000	0.05858	0.220000	0.23810	0.672000	0.39443	-4.014000	0.00313	-2.101000	0.00846	0.364000	0.22116	ATG		0.706	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		7	3	0	0	0	0	7	3				
DCAF12	25853	broad.mit.edu	37	9	34125196	34125196	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr9:34125196C>G	ENST00000361264.4	-	2	499	c.158G>C	c.(157-159)cGg>cCg	p.R53P	DCAF12_ENST00000463286.1_5'UTR	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	53					protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						CCTGACTTCCCGGTTCTTCAA	0.453																																						uc003ztt.2		NA																	0					0						c.(157-159)CGG>CCG		DDB1 and CUL4 associated factor 12							95.0	89.0	91.0					9																	34125196		2203	4300	6503	SO:0001583	missense	25853					centrosome|CUL4 RING ubiquitin ligase complex		g.chr9:34125196C>G	AB067479	CCDS6549.1	9p11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000198876	ENSG00000198876		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	19911	protein-coding gene	gene with protein product	"""cancer/testis antigen 102"""		"""KIAA1892"", ""WD repeat domain 40A"""	KIAA1892, WDR40A		11572484, 9110174	Standard	NM_015397		Approved	DKFZP434O125, MGC1058, CT102, TCC52	uc003ztt.2	Q5T6F0	OTTHUMG00000019806	ENST00000361264.4:c.158G>C	9.37:g.34125196C>G	ENSP00000355114:p.Arg53Pro						p.R53P	NM_015397	NP_056212	Q5T6F0	DCA12_HUMAN			2	500	-			53					A8KA70|D3DRL6|Q5T6E9|Q5T6F1|Q6P3V0|Q7L4F8|Q96PZ5|Q9NXA9|Q9UFJ1	Missense_Mutation	SNP	ENST00000361264.4	37	c.158G>C	CCDS6549.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.485436	0.84854	.	.	ENSG00000198876	ENST00000361264;ENST00000396990;ENST00000450964	T;T;T	0.79247	0.8;-1.25;0.22	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.88336	0.6409	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89906	0.4048	10	0.87932	D	0	-18.2592	17.9751	0.89124	0.0:1.0:0.0:0.0	.	53	Q5T6F0	DCA12_HUMAN	P	53;35;32	ENSP00000355114:R53P;ENSP00000380187:R35P;ENSP00000415833:R32P	ENSP00000355114:R53P	R	-	2	0	DCAF12	34115196	1.000000	0.71417	0.996000	0.52242	0.831000	0.47069	7.083000	0.76859	2.477000	0.83638	0.655000	0.94253	CGG		0.453	DCAF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052133.2	NM_015397		16	42	0	0	0	0	16	42				
OR13C4	138804	broad.mit.edu	37	9	107288722	107288722	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr9:107288722A>G	ENST00000277216.3	-	1	768	c.769T>C	c.(769-771)Ttt>Ctt	p.F257L		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	257						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(2)|lung(14)|skin(1)	18						GCATACATAAAGAAGATGGTA	0.468																																						uc011lvn.1		NA																	0				skin(1)	1						c.(769-771)TTT>CTT		olfactory receptor, family 13, subfamily C,							107.0	100.0	103.0					9																	107288722		2203	4300	6503	SO:0001583	missense	138804				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107288722A>G		CCDS35088.1	9q31.1	2013-09-24			ENSG00000148136	ENSG00000148136		"""GPCR / Class A : Olfactory receptors"""	14722	protein-coding gene	gene with protein product							Standard	NM_001001919		Approved		uc011lvn.2	Q8NGS5	OTTHUMG00000020407	ENST00000277216.3:c.769T>C	9.37:g.107288722A>G	ENSP00000277216:p.Phe257Leu						p.F257L	NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN			1	769	-			257			Helical; Name=6; (Potential).		Q6IF51|Q96R41	Missense_Mutation	SNP	ENST00000277216.3	37	c.769T>C	CCDS35088.1	.	.	.	.	.	.	.	.	.	.	A	10.92	1.486092	0.26686	.	.	ENSG00000148136	ENST00000277216;ENST00000545903	T	0.00241	8.46	3.5	-0.625	0.11548	GPCR, rhodopsin-like superfamily (1);	0.148744	0.30791	U	0.008867	T	0.00210	0.0006	M	0.72624	2.21	0.09310	N	1	B	0.22851	0.076	B	0.32211	0.142	T	0.44544	-0.9321	10	0.62326	D	0.03	.	4.1359	0.10170	0.6102:0.177:0.2128:0.0	.	257	Q8NGS5	O13C4_HUMAN	L	257;286	ENSP00000277216:F257L	ENSP00000277216:F257L	F	-	1	0	OR13C4	106328543	0.000000	0.05858	0.741000	0.31004	0.662000	0.39071	1.122000	0.31295	-0.228000	0.09869	-0.467000	0.05162	TTT		0.468	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053478.1			73	42	0	0	0	0	73	42				
SVEP1	79987	broad.mit.edu	37	9	113173432	113173432	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr9:113173432C>T	ENST00000401783.2	-	37	6895	c.6559G>A	c.(6559-6561)Gaa>Aaa	p.E2187K	SVEP1_ENST00000297826.5_Missense_Mutation_p.E113K|SVEP1_ENST00000374469.1_Missense_Mutation_p.E2164K	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2187	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCTGTGGCTTCGCAGGTGCTC	0.507																																						uc010mtz.2		NA																	0				ovary(7)	7						c.(6559-6561)GAA>AAA		polydom							107.0	114.0	112.0					9																	113173432		1963	4148	6111	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113173432C>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.6559G>A	9.37:g.113173432C>T	ENSP00000384917:p.Glu2187Lys					SVEP1_uc010mty.2_Missense_Mutation_p.E113K	p.E2187K	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			37	6896	-			2187			Sushi 13.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.6559G>A	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.709235	0.30322	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.64618	-0.11;-0.11;-0.11	6.08	5.17	0.71159	Complement control module (2);Sushi/SCR/CCP (3);	0.252700	0.45606	D	0.000350	T	0.44265	0.1285	L	0.28556	0.865	0.80722	D	1	B	0.29115	0.233	B	0.21546	0.035	T	0.34775	-0.9815	10	0.07030	T	0.85	.	12.1647	0.54123	0.1353:0.7347:0.1301:0.0	.	2187	Q4LDE5	SVEP1_HUMAN	K	2187;2164;113	ENSP00000384917:E2187K;ENSP00000363593:E2164K;ENSP00000297826:E113K	ENSP00000297826:E113K	E	-	1	0	SVEP1	112213253	0.968000	0.33430	0.789000	0.31954	0.928000	0.56348	2.219000	0.42899	1.537000	0.49254	0.591000	0.81541	GAA		0.507	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				29	77	0	0	0	0	29	77				
WDR34	89891	broad.mit.edu	37	9	131397505	131397505	+	Missense_Mutation	SNP	G	G	A	rs11541003		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr9:131397505G>A	ENST00000372715.2	-	6	907	c.847C>T	c.(847-849)Cgc>Tgc	p.R283C	WDR34_ENST00000483181.1_5'UTR	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	283						axoneme (GO:0005930)|centriole (GO:0005814)|ciliary basal body (GO:0036064)				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						ACCTGGAAGCGGTGGCTGTGC	0.652											OREG0019522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004bvq.1		NA																	0				central_nervous_system(2)|skin(1)	3						c.(847-849)CGC>TGC		WD repeat domain 34							23.0	24.0	24.0					9																	131397505		2201	4299	6500	SO:0001583	missense	89891					cytoplasm		g.chr9:131397505G>A	BC011874	CCDS6906.2	9q34.11	2013-11-15	2013-02-19	2013-02-19	ENSG00000119333	ENSG00000119333		"""WD repeat domain containing"""	28296	protein-coding gene	gene with protein product		613363				19521662, 21953912, 24183451	Standard	NM_052844		Approved	DIC5, MGC20486, bA216B9.3, FAP133	uc004bvq.1	Q96EX3	OTTHUMG00000020750	ENST00000372715.2:c.847C>T	9.37:g.131397505G>A	ENSP00000361800:p.Arg283Cys		OREG0019522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1587	WDR34_uc004bvs.1_Missense_Mutation_p.R274C|WDR34_uc004bvr.1_Intron	p.R283C	NM_052844	NP_443076	Q96EX3	WDR34_HUMAN			6	971	-			283			WD 2.		Q5VXV4|Q9BV46	Missense_Mutation	SNP	ENST00000372715.2	37	c.847C>T	CCDS6906.2	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160351	0.78226	.	.	ENSG00000119333	ENST00000372715	T	0.65178	-0.14	4.97	4.05	0.47172	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.276244	0.30732	N	0.008994	T	0.72211	0.3432	L	0.56769	1.78	0.58432	D	0.99999	D	0.76494	0.999	P	0.61658	0.892	T	0.73173	-0.4066	10	0.48119	T	0.1	-15.913	14.1962	0.65672	0.0:0.1506:0.8494:0.0	rs11541003	283	Q96EX3	WDR34_HUMAN	C	283	ENSP00000361800:R283C	ENSP00000361800:R283C	R	-	1	0	WDR34	130437326	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	3.481000	0.53179	1.044000	0.40200	0.462000	0.41574	CGC		0.652	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054463.1	NM_052844		22	12	0	0	0	0	22	12				
PRKX	5613	broad.mit.edu	37	X	3592789	3592789	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chrX:3592789C>G	ENST00000262848.5	-	2	539	c.185G>C	c.(184-186)cGg>cCg	p.R62P		NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	62	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial tube morphogenesis (GO:0060562)|kidney morphogenesis (GO:0060993)|myeloid cell differentiation (GO:0030099)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of epithelial cell differentiation involved in kidney development (GO:2000696)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				CAGGTGCACCCGCCCGAACGT	0.552																																						uc010nde.2		NA																	0				skin(2)|lung(1)	3						c.(184-186)CGG>CCG		protein kinase, X-linked							140.0	105.0	117.0					X																	3592789		2203	4297	6500	SO:0001583	missense	5613						ATP binding|cAMP-dependent protein kinase activity	g.chrX:3592789C>G		CCDS14125.1	Xp22.3	2008-08-01			ENSG00000183943	ENSG00000183943	2.7.11.1		9441	protein-coding gene	gene with protein product		300083				7633447	Standard	NM_005044		Approved	PKX1	uc010nde.3	P51817	OTTHUMG00000021087	ENST00000262848.5:c.185G>C	X.37:g.3592789C>G	ENSP00000262848:p.Arg62Pro						p.R62P	NM_005044	NP_005035	P51817	PRKX_HUMAN			2	552	-		all_lung(23;0.000396)|Lung NSC(23;0.00123)	62			ATP (By similarity).|Protein kinase.			Missense_Mutation	SNP	ENST00000262848.5	37	c.185G>C	CCDS14125.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.937294	0.34189	.	.	ENSG00000183943	ENST00000262848	T	0.66099	-0.19	2.62	2.62	0.31277	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	0.64402	U	0.000001	T	0.64394	0.2594	M	0.83012	2.62	0.80722	D	1	P	0.42296	0.775	B	0.40285	0.325	T	0.71083	-0.4695	10	0.87932	D	0	-19.2434	11.6787	0.51444	0.0:1.0:0.0:0.0	.	62	P51817	PRKX_HUMAN	P	62	ENSP00000262848:R62P	ENSP00000262848:R62P	R	-	2	0	PRKX	3602789	1.000000	0.71417	0.079000	0.20413	0.371000	0.29859	6.229000	0.72294	0.928000	0.37168	0.277000	0.19347	CGG		0.552	PRKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055659.1	NM_005044		25	22	0	0	0	0	25	22				
CXorf58	254158	broad.mit.edu	37	X	23956699	23956699	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chrX:23956699C>A	ENST00000379211.3	+	8	1370	c.821C>A	c.(820-822)cCc>cAc	p.P274H		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	274										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						CTATATCGGCCCTACAAACAG	0.323																																						uc004daz.1		NA																	0					0						c.(820-822)CCC>CAC		hypothetical protein LOC254158							83.0	81.0	82.0					X																	23956699		2203	4300	6503	SO:0001583	missense	254158							g.chrX:23956699C>A	AK058173	CCDS14209.1	Xp22.11	2012-11-28			ENSG00000165182	ENSG00000165182			26356	protein-coding gene	gene with protein product							Standard	NM_152761		Approved	FLJ25444	uc004daz.1	Q96LI9	OTTHUMG00000021258	ENST00000379211.3:c.821C>A	X.37:g.23956699C>A	ENSP00000368511:p.Pro274His					CXorf58_uc011mju.1_Missense_Mutation_p.P274H	p.P274H	NM_152761	NP_689974	Q96LI9	CX058_HUMAN			8	1165	+			274						Missense_Mutation	SNP	ENST00000379211.3	37	c.821C>A	CCDS14209.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243275	0.39697	.	.	ENSG00000165182	ENST00000379211	T	0.28454	1.61	4.76	0.731	0.18277	.	1.065520	0.07283	N	0.871059	T	0.43743	0.1261	M	0.62723	1.935	0.09310	N	1	D;D	0.65815	0.995;0.995	P;P	0.61592	0.891;0.891	T	0.25047	-1.0143	10	0.72032	D	0.01	0.4049	2.3192	0.04206	0.1533:0.5113:0.1479:0.1874	.	274;274	B7ZLS7;Q96LI9	.;CX058_HUMAN	H	274	ENSP00000368511:P274H	ENSP00000368511:P274H	P	+	2	0	CXorf58	23866620	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.702000	0.25631	0.185000	0.20105	0.523000	0.50628	CCC		0.323	CXorf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056071.1	NM_152761		28	25	1	0	2.46e-21	4.12e-21	28	25				
KDM6A	7403	broad.mit.edu	37	X	44922694	44922694	+	Nonsense_Mutation	SNP	C	C	T	rs397514628		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chrX:44922694C>T	ENST00000377967.4	+	16	1596	c.1555C>T	c.(1555-1557)Cga>Tga	p.R519*	KDM6A_ENST00000382899.4_Nonsense_Mutation_p.R526*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.R440*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.R474*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	519	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(2)|p.R519*(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TGCACAGGTACGATCTACTGG	0.463			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3		NA		Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		9	Whole gene deletion(6)|No detectable mRNA/protein(2)|Substitution - Nonsense(1)		haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|breast(2)|pancreas(2)|lung(1)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.(1555-1557)CGA>TGA		ubiquitously transcribed tetratricopeptide							77.0	68.0	71.0					X																	44922694		2203	4300	6503	SO:0001587	stop_gained	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44922694C>T	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.1555C>T	X.37:g.44922694C>T	ENSP00000367203:p.Arg519*					KDM6A_uc010nhk.2_Nonsense_Mutation_p.R485*|KDM6A_uc011mkz.1_Nonsense_Mutation_p.R571*|KDM6A_uc011mla.1_Nonsense_Mutation_p.R474*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.R526*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.R223*|KDM6A_uc011mld.1_Nonsense_Mutation_p.R158*	p.R519*	NM_021140	NP_066963	O15550	KDM6A_HUMAN			16	1930	+			519					Q52LL9|Q5JVQ7	Nonsense_Mutation	SNP	ENST00000377967.4	37	c.1555C>T	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.8|27.8	4.861176|4.861176	0.91433|0.91433	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000535688|ENST00000414389;ENST00000433797	.|.	.|.	.|.	5.04|5.04	5.04|5.04	0.67666|0.67666	.|.	0.365679|.	0.29053|.	N|.	0.013298|.	.|T	.|0.73885	.|0.3644	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74109	.|-0.3771	.|3	0.02654|.	T|.	1|.	-6.2392|-6.2392	17.7676|17.7676	0.88483|0.88483	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|M	216;519;474;526;440;112|116;161	.|.	ENSP00000334340:R216X|.	R|T	+|+	1|2	2|0	KDM6A|KDM6A	44807638|44807638	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.921000|0.921000	0.55340|0.55340	4.387000|4.387000	0.59626|0.59626	2.213000|2.213000	0.71641|0.71641	0.513000|0.513000	0.50165|0.50165	CGA|ACG		0.463	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		19	19	0	0	0	0	19	19				
ACRC	93953	broad.mit.edu	37	X	70823685	70823685	+	Silent	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chrX:70823685G>C	ENST00000373695.1	+	7	1095	c.558G>C	c.(556-558)tcG>tcC	p.S186S	ACRC_ENST00000373696.3_Silent_p.S186S			Q96QF7	ACRC_HUMAN	acidic repeat containing	186	Asp/Ser-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GTGATGATTCGGATGTTCCCG	0.498																																						uc004eae.2		NA																	0				ovary(3)	3						c.(556-558)TCG>TCC		ACRC protein							304.0	245.0	265.0					X																	70823685		2203	4300	6503	SO:0001819	synonymous_variant	93953					nucleus		g.chrX:70823685G>C	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.558G>C	X.37:g.70823685G>C						BCYRN1_uc011mpt.1_Intron	p.S186S	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN			8	1059	+	Renal(35;0.156)		186			Asp/Ser-rich.		B9EG62	Silent	SNP	ENST00000373695.1	37	c.558G>C	CCDS35326.1																																																																																				0.498	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			95	74	0	0	0	0	95	74				
ENOX2	10495	broad.mit.edu	37	X	129771269	129771269	+	Missense_Mutation	SNP	T	T	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chrX:129771269T>G	ENST00000370927.1	-	9	1353	c.1332A>C	c.(1330-1332)agA>agC	p.R444S	ENOX2_ENST00000370935.1_Missense_Mutation_p.R415S|ENOX2_ENST00000338144.3_Missense_Mutation_p.R444S|ENOX2_ENST00000394363.1_Missense_Mutation_p.R415S			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	444					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						GGTCATCTTCTCTGTGGACTT	0.478																																					Ovarian(101;828 1506 2951 9500 35258)	uc004evw.2		NA																	0				ovary(1)	1						c.(1330-1332)AGA>AGC		ecto-NOX disulfide-thiol exchanger 2 isoform b							377.0	305.0	329.0					X																	129771269		2203	4300	6503	SO:0001583	missense	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129771269T>G	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.1332A>C	X.37:g.129771269T>G	ENSP00000359965:p.Arg444Ser					ENOX2_uc004evx.2_Missense_Mutation_p.R415S|ENOX2_uc004evy.2_Missense_Mutation_p.R415S|ENOX2_uc004evv.2_Missense_Mutation_p.R269S	p.R444S	NM_182314	NP_872114	Q16206	ENOX2_HUMAN			12	1750	-			444			Potential.		A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	c.1332A>C	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	T	12.06	1.824850	0.32237	.	.	ENSG00000165675	ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927	T;T	0.29655	1.56;1.56	5.09	1.45	0.22620	.	0.205150	0.50627	D	0.000101	T	0.14830	0.0358	N	0.17474	0.49	0.36245	D	0.853526	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.15838	-1.0423	9	.	.	.	-8.2151	6.8233	0.23868	0.0:0.3544:0.0:0.6456	.	444;472	Q16206;A4QPE1	ENOX2_HUMAN;.	S	415;415;444;415;472;444	ENSP00000337146:R444S;ENSP00000359965:R444S	.	R	-	3	2	ENOX2	129598950	1.000000	0.71417	0.934000	0.37439	0.841000	0.47740	0.644000	0.24766	0.273000	0.22049	0.486000	0.48141	AGA		0.478	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		84	54	0	0	0	0	84	54				
IL9R	3581	broad.mit.edu	37	X	155235823	155235823	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chrX:155235823C>T	ENST00000244174.5	+	7	1036	c.857C>T	c.(856-858)cCg>cTg	p.P286L	IL9R_ENST00000424344.3_Missense_Mutation_p.P265L|IL9R_ENST00000494962.1_3'UTR|IL9R_ENST00000540897.1_Missense_Mutation_p.P311L|IL9R_ENST00000369423.2_Missense_Mutation_p.P321L	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	286					cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTGACTGGCCCGACCTACCTC	0.592													c|||	9	0.00179712	0.0061	0.0	5008	,	,		20551	0.001		0.0	False		,,,				2504	0.0					uc004fnv.1		NA																	0					0						c.(856-858)CCG>CTG		interleukin 9 receptor precursor		T	LEU/PRO	31,4349		0,31,2159	26.0	22.0	24.0		857	1.6	0.1	X	dbSNP_134	24	0,8482		0,0,4241	no	missense	IL9R	NM_002186.2	98	0,31,6400	TT,TC,CC		0.0,0.7078,0.241	benign	286/522	155235823	31,12831	2190	4241	6431	SO:0001583	missense	3581				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	g.chrX:155235823C>T	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.857C>T	X.37:g.155235823C>T	ENSP00000244174:p.Pro286Leu					IL9R_uc010nvn.2_Missense_Mutation_p.P265L|IL9R_uc004fnu.1_Missense_Mutation_p.P321L	p.P286L	NM_002186	NP_002177	Q01113	IL9R_HUMAN			7	1036	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		286			Helical; (Potential).		B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	ENST00000244174.5	37	c.857C>T	CCDS14771.4	.	.	.	.	.	.	.	.	.	.	c	0.007	-2.006137	0.00426	0.007078	0.0	ENSG00000124334	ENST00000244174;ENST00000424344;ENST00000455739;ENST00000369423;ENST00000540897	T;T;T;T	0.19250	3.24;3.24;2.16;2.17	1.57	1.57	0.23409	.	1.809150	0.03129	N	0.164879	T	0.05410	0.0143	.	.	.	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.01281	0.0;0.0;0.0	T	0.27400	-1.0075	9	0.02654	T	1	-15.1718	3.294	0.06960	0.0:0.246:0.0:0.754	.	265;286;321	F5H3Z0;Q01113;B9ZVT0	.;IL9R_HUMAN;.	L	286;265;265;321;311	ENSP00000244174:P286L;ENSP00000388918:P265L;ENSP00000358431:P321L;ENSP00000438112:P311L	ENSP00000244174:P286L	P	+	2	0	IL9R	154889017	0.302000	0.24454	0.148000	0.22405	0.004000	0.04260	0.315000	0.19451	0.036000	0.15547	-0.911000	0.02809	CCG		0.592	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186		13	20	0	0	0	0	13	20				
CELSR2	1952	broad.mit.edu	37	1	109793107	109793109	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:109793107_109793109delCCG	ENST00000271332.3	+	1	467_469	c.406_408delCCG	c.(406-408)ccgdel	p.P136del		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	136					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.P136Q(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CGAGGAGCACCCGTGCTTAAAGG	0.66																																					NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3		NA																	2	Substitution - Missense(2)		ovary(1)|lung(1)	ovary(4)|lung(3)|skin(1)	8						c.(406-408)CCGdel		cadherin EGF LAG seven-pass G-type receptor 2																																				SO:0001651	inframe_deletion	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109793107_109793109delCCG	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.406_408delCCG	1.37:g.109793107_109793109delCCG	ENSP00000271332:p.Pro136del						p.P136del	NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	467_469	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	136			Extracellular (Potential).		Q5T2Y7|Q92566	In_Frame_Del	DEL	ENST00000271332.3	37	c.406_408delCCG	CCDS796.1																																																																																				0.660	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		32	61	NA	NA	NA	NA	32	61	---	---	---	---
OR1S1	219959	broad.mit.edu	37	11	57982857	57982864	+	Frame_Shift_Del	DEL	TTGTGGGT	TTGTGGGT	-			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:57982857_57982864delTTGTGGGT	ENST00000309433.6	+	1	641_648	c.641_648delTTGTGGGT	c.(640-648)attgtgggtfs	p.IVG214fs		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				GTGTTGTTTATTGTGGGTTTATCAGTTA	0.438																																						uc010rkc.1		NA																	0				breast(1)	1						c.(640-648)ATTGTGGGTfs		olfactory receptor, family 1, subfamily S,																																				SO:0001589	frameshift_variant	219959				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57982857_57982864delTTGTGGGT	BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"""GPCR / Class A : Olfactory receptors"""	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.641_648delTTGTGGGT	11.37:g.57982857_57982864delTTGTGGGT	ENSP00000311688:p.Ile214fs						p.I214fs	NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN			1	641_648	+		Breast(21;0.0589)	214_216			Helical; Name=5; (Potential).		Q6IFG3	Frame_Shift_Del	DEL	ENST00000309433.6	37	c.641_648delTTGTGGGT	CCDS31546.1																																																																																				0.438	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	NM_001004458		21	106	NA	NA	NA	NA	21	106	---	---	---	---
TMTC3	160418	broad.mit.edu	37	12	88560138	88560138	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr12:88560138delC	ENST00000266712.6	+	7	1049	c.829delC	c.(829-831)cctfs	p.P277fs		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	277					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						AAGCCCAACTCCTACAAGGCA	0.348																																						uc001tau.2		NA																	0				skin(1)	1						c.(829-831)CCTfs		transmembrane and tetratricopeptide repeat							128.0	119.0	122.0					12																	88560138		2203	4300	6503	SO:0001589	frameshift_variant	160418					integral to membrane	binding	g.chr12:88560138delC		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.829delC	12.37:g.88560138delC	ENSP00000266712:p.Pro277fs					TMTC3_uc009zsm.2_RNA	p.P277fs	NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN			7	1049	+			277					Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Frame_Shift_Del	DEL	ENST00000266712.6	37	c.829delC	CCDS9032.1																																																																																				0.348	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		17	50	NA	NA	NA	NA	17	50	---	---	---	---
TMEM95	339168	broad.mit.edu	37	17	7259577	7259578	+	Frame_Shift_Del	DEL	CG	CG	-	rs199658290|rs142054857		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:7259577_7259578delCG	ENST00000576060.1	+	5	418_419	c.391_392delCG	c.(391-393)cgafs	p.R131fs	TMEM95_ENST00000389982.4_Frame_Shift_Del_p.R131fs|RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000330767.4_Frame_Shift_Del_p.R139fs			Q3KNT9	TMM95_HUMAN	transmembrane protein 95	131						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				CTGCTGGCCCCGAAAGCGCTGC	0.678											OREG0024137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ggh.1		NA																	0					0						c.(391-393)CGAfs		transmembrane protein 95																																				SO:0001589	frameshift_variant	339168					integral to membrane		g.chr17:7259577_7259578delCG		CCDS32546.1	17p13.1	2005-12-15			ENSG00000182896	ENSG00000182896			27898	protein-coding gene	gene with protein product						12975309	Standard	NM_198154		Approved	MGC129793, UNQ9390	uc002ggf.1	Q3KNT9	OTTHUMG00000132899	ENST00000576060.1:c.391_392delCG	17.37:g.7259577_7259578delCG	ENSP00000460828:p.Arg131fs		OREG0024137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	640	TMEM95_uc002ggf.1_Frame_Shift_Del_p.R139fs|TMEM95_uc002ggg.1_Frame_Shift_Del_p.R131fs	p.R131fs	NM_198154	NP_937797	Q3KNT9	TMM95_HUMAN			5	418_419	+		Prostate(122;0.173)	131			Extracellular (Potential).		B7WPI7|Q6UXT3|Q8IW68	Frame_Shift_Del	DEL	ENST00000576060.1	37	c.391_392delCG																																																																																					0.678	TMEM95-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440555.2	NM_198154		12	32	NA	NA	NA	NA	12	32	---	---	---	---
MPP3	4356	broad.mit.edu	37	17	41898342	41898343	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:41898342_41898343insGC	ENST00000398389.4	-	11	933_934	c.768_769insGC	c.(766-771)cgcaggfs	p.R257fs	MPP3_ENST00000398393.1_Frame_Shift_Ins_p.R282fs	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	257	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	guanylate kinase activity (GO:0004385)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		AGGACCTGCCTGCGCTGGAAGG	0.683																																						uc002iei.3		NA																	0				large_intestine(1)|skin(1)	2						c.(766-771)CGCAGGfs		palmitoylated membrane protein 3																																				SO:0001589	frameshift_variant	4356				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity	g.chr17:41898342_41898343insGC		CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647			7221	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 3"", ""discs, large (Drosophila) homolog 3"", ""membrane protein palmitoylated 3"""	601114		DLG3		8824795	Standard	NR_003562		Approved		uc002iei.4	Q13368	OTTHUMG00000133838	ENST00000398389.4:c.767_768dupGC	17.37:g.41898345_41898346dupGC	ENSP00000381425:p.Arg257fs					MPP3_uc002ieh.2_Frame_Shift_Ins_p.R281fs|MPP3_uc002iej.2_RNA|MPP3_uc010czi.1_Frame_Shift_Ins_p.R256fs|MPP3_uc010wik.1_Frame_Shift_Ins_p.R281fs	p.R256fs	NM_001932	NP_001923	Q13368	MPP3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.119)	11	934_935	-		Breast(137;0.00394)	256_257			SH3.		B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Frame_Shift_Ins	INS	ENST00000398389.4	37	c.768_769insGC	CCDS42344.1																																																																																				0.683	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258371.1	NM_001932		7	18	NA	NA	NA	NA	7	18	---	---	---	---
PMAIP1	5366	broad.mit.edu	37	18	57569886	57569889	+	Frame_Shift_Del	DEL	AGTC	AGTC	-			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr18:57569886_57569889delAGTC	ENST00000316660.6	+	2	296_299	c.66_69delAGTC	c.(64-69)gaagtcfs	p.EV22fs	PMAIP1_ENST00000269518.9_Frame_Shift_Del_p.SR73fs	NM_021127.2	NP_066950.1	Q13794	APR_HUMAN	phorbol-12-myristate-13-acetate-induced protein 1	22					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|defense response to virus (GO:0051607)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of mitochondrial membrane potential (GO:0010917)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|proteasomal protein catabolic process (GO:0010498)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane permeability (GO:0046902)|release of cytochrome c from mitochondria (GO:0001836)|response to dsRNA (GO:0043331)|response to UV (GO:0009411)|response to X-ray (GO:0010165)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)	1		Colorectal(73;0.0946)				CAGAGCTGGAAGTCGAGTGTGCTA	0.431																																						uc002lic.2		NA																	0					0						c.(64-69)GAAGTCfs		phorbol-12-myristate-13-acetate-induced protein																																				SO:0001589	frameshift_variant	5366				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to glucose starvation|cellular response to hypoxia|negative regulation of mitochondrial membrane potential|positive regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of glucose metabolic process|positive regulation of protein oligomerization|positive regulation of release of cytochrome c from mitochondria|proteasomal protein catabolic process|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability|response to dsRNA|signal transduction by p53 class mediator resulting in induction of apoptosis|T cell homeostasis|virus-infected cell apoptosis	cytosol|mitochondrial outer membrane|nucleus	protein binding	g.chr18:57569886_57569889delAGTC	D90070	CCDS11975.1	18q21.32	2014-03-07			ENSG00000141682	ENSG00000141682			9108	protein-coding gene	gene with protein product		604959				2398525, 12879012	Standard	NM_021127		Approved	APR, NOXA	uc002lic.2	Q13794	OTTHUMG00000132765	ENST00000316660.6:c.66_69delAGTC	18.37:g.57569886_57569889delAGTC	ENSP00000326119:p.Glu22fs					PMAIP1_uc002lid.2_Frame_Shift_Del_p.S73fs	p.E22fs	NM_021127	NP_066950	Q13794	APR_HUMAN			2	284_287	+		Colorectal(73;0.0946)	22_23					B2R4T7|Q8N589	Frame_Shift_Del	DEL	ENST00000316660.6	37	c.66_69delAGTC	CCDS11975.1																																																																																				0.431	PMAIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256137.1	NM_021127		12	36	NA	NA	NA	NA	12	36	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82583946	82583946	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr7:82583946delG	ENST00000333891.9	-	5	6660	c.6323delC	c.(6322-6324)tcafs	p.S2109fs	PCLO_ENST00000423517.2_Frame_Shift_Del_p.S2109fs	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAGAACACTTGATGTCAAAGA	0.453																																						uc003uhx.2		NA																	0				ovary(7)	7						c.(6322-6324)TCAfs		piccolo isoform 1							70.0	70.0	70.0					7																	82583946		1902	4116	6018	SO:0001589	frameshift_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82583946delG	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.6323delC	7.37:g.82583946delG	ENSP00000334319:p.Ser2109fs					PCLO_uc003uhv.2_Frame_Shift_Del_p.S2108fs	p.S2108fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	6612	-			2039						Frame_Shift_Del	DEL	ENST00000333891.9	37	c.6323delC	CCDS47630.1																																																																																				0.453	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		10	36	NA	NA	NA	NA	10	36	---	---	---	---
