#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
Unknown	0	broad.mit.edu	37	1	13183462	13183462	+	IGR	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:13183462A>G								RP13-221M14.3 (18994 upstream) : PRAMEF26 (32893 downstream)																							CTACAGCCAGAGCAATGGGAG	0.502																																						uc010obg.1		NA																	0					0						c.(409-411)GCT>GCC		heterogeneous nuclear ribonucleoprotein C-like							97.0	73.0	80.0					1																	13183462		692	1591	2283	SO:0001628	intergenic_variant	440563					ribonucleoprotein complex	nucleic acid binding|nucleotide binding	g.chr1:13183462A>G																													1.37:g.13183462A>G							p.A137A	NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN			1	506	-			137						Silent	SNP		37	c.411T>C																																																																																				0	0.502									11	417	0	0	0	0	11	417				
PLA2G2E	30814	broad.mit.edu	37	1	20246801	20246801	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:20246801C>T	ENST00000375116.3	-	4	485	c.428G>A	c.(427-429)tGa>tAa	p.*143*		NM_014589.1	NP_055404.1	Q9NZK7	PA2GE_HUMAN	phospholipase A2, group IIE	0					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)			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aminosalicylic Acid(DB00233)	AGCATAGCCTCAGCAGGGCGG	0.647																																						uc001bct.1		NA																	0					0						c.(427-429)TGA>TAA		phospholipase A2, group IIE precursor							36.0	34.0	34.0					1																	20246801		2203	4300	6503	SO:0001819	synonymous_variant	30814				inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	g.chr1:20246801C>T	AF189279	CCDS200.1	1p36.13	2008-09-19			ENSG00000188784	ENSG00000188784	3.1.1.4		13414	protein-coding gene	gene with protein product						10681567, 11922621	Standard	NM_014589		Approved		uc001bct.1	Q9NZK7	OTTHUMG00000002702	ENST00000375116.3:c.428G>A	1.37:g.20246801C>T							p.*143*	NM_014589	NP_055404	Q9NZK7	PA2GE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	4	486	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	143					Q5VXJ8	Silent	SNP	ENST00000375116.3	37	c.428G>A	CCDS200.1																																																																																				0.647	PLA2G2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007684.1	NM_014589		7	26	0	0	0	0	7	26				
E2F2	1870	broad.mit.edu	37	1	23850945	23850945	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:23850945C>G	ENST00000361729.2	-	2	714	c.288G>C	c.(286-288)agG>agC	p.R96S		NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	96	Cyclin A/CDK2 binding. {ECO:0000255}.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		GGACGACGGGCCTCCCAATCC	0.572																																						uc001bhe.1		NA																	0				ovary(2)|skin(2)	4						c.(286-288)AGG>AGC		E2F transcription factor 2							60.0	60.0	60.0					1																	23850945		2203	4300	6503	SO:0001583	missense	1870				G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:23850945C>G	L22846	CCDS236.1	1p36	2008-02-05			ENSG00000007968	ENSG00000007968			3114	protein-coding gene	gene with protein product		600426				8246995, 8246996	Standard	NM_004091		Approved	E2F-2	uc001bhe.2	Q14209	OTTHUMG00000003223	ENST00000361729.2:c.288G>C	1.37:g.23850945C>G	ENSP00000355249:p.Arg96Ser					uc001bhf.1_5'Flank	p.R96S	NM_004091	NP_004082	Q14209	E2F2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)	2	716	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	96			Cyclin A/CDK2 binding (Potential).		B2R9W1|Q7Z6H1	Missense_Mutation	SNP	ENST00000361729.2	37	c.288G>C	CCDS236.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.839832	0.32513	.	.	ENSG00000007968	ENST00000361729	T	0.08370	3.1	5.5	2.6	0.31112	.	0.109192	0.40554	N	0.001066	T	0.05914	0.0154	L	0.46157	1.445	0.28814	N	0.89807	P	0.44734	0.842	B	0.31442	0.13	T	0.26643	-1.0097	10	0.56958	D	0.05	-18.0932	7.1356	0.25527	0.0:0.7379:0.0:0.2621	.	96	Q14209	E2F2_HUMAN	S	96	ENSP00000355249:R96S	ENSP00000355249:R96S	R	-	3	2	E2F2	23723532	0.999000	0.42202	0.994000	0.49952	0.079000	0.17450	0.929000	0.28844	1.319000	0.45190	0.655000	0.94253	AGG		0.572	E2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008885.1	NM_004091		5	34	0	0	0	0	5	34				
RUNX3	864	broad.mit.edu	37	1	25228965	25228965	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:25228965G>T	ENST00000308873.6	-	5	904	c.896C>A	c.(895-897)gCc>gAc	p.A299D	RUNX3_ENST00000338888.3_Missense_Mutation_p.A313D|RUNX3_ENST00000399916.1_Missense_Mutation_p.A313D|RUNX3_ENST00000496967.1_5'Flank|RUNX3_ENST00000540420.1_Missense_Mutation_p.A206D	NM_004350.2	NP_004341.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	299	Pro/Ser/Thr-rich.				axon guidance (GO:0007411)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|hair follicle morphogenesis (GO:0031069)|interferon-gamma production (GO:0032609)|negative regulation of cell cycle (GO:0045786)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system neuron development (GO:0048935)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GCGGCTGGTGGCCGGCATGCC	0.701																																						uc001bjq.2		NA																	0					0						c.(895-897)GCC>GAC		runt-related transcription factor 3 isoform 2							21.0	31.0	27.0					1																	25228965		2185	4274	6459	SO:0001583	missense	864				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:25228965G>T	BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633			10473	protein-coding gene	gene with protein product		600210		CBFA3		7835892	Standard	NM_001031680		Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000308873.6:c.896C>A	1.37:g.25228965G>T	ENSP00000308051:p.Ala299Asp					RUNX3_uc010oen.1_Missense_Mutation_p.A246D|RUNX3_uc009vrj.2_Missense_Mutation_p.A313D|RUNX3_uc001bjr.2_Missense_Mutation_p.A313D|RUNX3_uc001bjs.2_RNA	p.A299D	NM_004350	NP_004341	Q13761	RUNX3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)	5	1307	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	299			Pro/Ser/Thr-rich.		B1AJV5|Q12969|Q13760	Missense_Mutation	SNP	ENST00000308873.6	37	c.896C>A	CCDS257.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118373	0.77323	.	.	ENSG00000020633	ENST00000399916;ENST00000308873;ENST00000338888;ENST00000540420;ENST00000428150	D;D;D;D	0.97303	-4.33;-4.32;-4.33;-3.97	4.1	4.1	0.47936	.	0.160050	0.38720	N	0.001600	D	0.96525	0.8866	L	0.58810	1.83	0.42518	D	0.992993	P;D;P	0.53619	0.469;0.961;0.808	B;P;B	0.49637	0.223;0.617;0.348	D	0.95881	0.8899	10	0.33940	T	0.23	-34.2816	16.9451	0.86228	0.0:0.0:1.0:0.0	.	246;313;299	E9PH34;B1AJV5;Q13761	.;.;RUNX3_HUMAN	D	313;299;313;206;246	ENSP00000382800:A313D;ENSP00000308051:A299D;ENSP00000343477:A313D;ENSP00000444872:A206D	ENSP00000308051:A299D	A	-	2	0	RUNX3	25101552	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.077000	0.71275	2.311000	0.77944	0.456000	0.33151	GCC		0.701	RUNX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009284.1	NM_004350		12	58	1	0	5.51e-06	6.82e-06	12	58				
ZFP69B	65243	broad.mit.edu	37	1	40928732	40928732	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:40928732G>A	ENST00000411995.2	+	6	1451	c.1076G>A	c.(1075-1077)gGg>gAg	p.G359E	ZFP69B_ENST00000484445.1_3'UTR|ZFP69B_ENST00000361584.3_Missense_Mutation_p.G257E|RP1-228H13.5_ENST00000565390.1_RNA	NM_023070.2	NP_075558.2	Q9UJL9	ZF69B_HUMAN	ZFP69 zinc finger protein B	359			G -> R (in dbSNP:rs12407929).		transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										ATTCATACCGGGGAAAAGCCC	0.423																																						uc001cfn.1		NA																	0				ovary(2)	2						c.(1075-1077)GGG>GAG		zinc finger protein 643							53.0	55.0	54.0					1																	40928732		2203	4300	6503	SO:0001583	missense	65243				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:40928732G>A	BC017498	CCDS452.1, CCDS452.2	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187801	ENSG00000187801		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	28053	protein-coding gene	gene with protein product			"""zinc finger protein 643"""	ZNF643			Standard	NM_023070		Approved	ZKSCAN23B, FLJ34293, ZSCAN54B	uc001cfn.2	Q9UJL9	OTTHUMG00000007302	ENST00000411995.2:c.1076G>A	1.37:g.40928732G>A	ENSP00000399664:p.Gly359Glu					ZNF643_uc001cfl.1_Missense_Mutation_p.G257E|ZNF643_uc001cfm.1_Missense_Mutation_p.G225E	p.G359E	NM_023070	NP_075558	Q9UJL9	ZN643_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.25e-18)		5	1373	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	359					Q5QPL4	Missense_Mutation	SNP	ENST00000411995.2	37	c.1076G>A	CCDS452.2	.	.	.	.	.	.	.	.	.	.	.	21.1	4.104935	0.77096	.	.	ENSG00000187801	ENST00000431552;ENST00000411995;ENST00000361584	T;T	0.01599	4.74;4.74	3.13	3.13	0.36017	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05593	0.0147	L	0.37507	1.11	0.50632	D	0.999886	D	0.89917	1.0	D	0.97110	1.0	T	0.45977	-0.9224	9	0.87932	D	0	.	12.4855	0.55871	0.0:0.0:1.0:0.0	.	359	Q9UJL9	ZN643_HUMAN	E	290;359;257	ENSP00000399664:G359E;ENSP00000354547:G257E	ENSP00000354547:G257E	G	+	2	0	ZNF643	40701319	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.179000	0.71974	2.047000	0.60756	0.585000	0.79938	GGG		0.423	ZFP69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019078.2	NM_023070		6	43	0	0	0	0	6	43				
LRRIQ3	127255	broad.mit.edu	37	1	74507088	74507088	+	Silent	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:74507088G>T	ENST00000395089.1	-	6	1526	c.1527C>A	c.(1525-1527)tcC>tcA	p.S509S	LRRIQ3_ENST00000354431.4_Silent_p.S509S			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	509										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AAGCCTTTTGGGATTTTTCTT	0.363																																						uc001dfy.3		NA																	0				ovary(2)	2						c.(1525-1527)TCC>TCA		leucine-rich repeats and IQ motif containing 3							103.0	102.0	102.0					1																	74507088		1799	4068	5867	SO:0001819	synonymous_variant	127255							g.chr1:74507088G>T	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1527C>A	1.37:g.74507088G>T						LRRIQ3_uc001dfz.3_Intron	p.S509S	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN			7	1719	-			509					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Silent	SNP	ENST00000395089.1	37	c.1527C>A	CCDS41350.1																																																																																				0.363	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		7	96	1	0	2.77e-08	3.66e-08	7	96				
LRRIQ3	127255	broad.mit.edu	37	1	74507545	74507545	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:74507545G>T	ENST00000395089.1	-	6	1069	c.1070C>A	c.(1069-1071)cCc>cAc	p.P357H	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.P357H			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	357								p.P357L(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AGTGTATATGGGTAGTTTGAA	0.338																																						uc001dfy.3		NA																	1	Substitution - Missense(1)		liver(1)	ovary(2)	2						c.(1069-1071)CCC>CAC		leucine-rich repeats and IQ motif containing 3							56.0	54.0	54.0					1																	74507545		1822	4084	5906	SO:0001583	missense	127255							g.chr1:74507545G>T	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1070C>A	1.37:g.74507545G>T	ENSP00000378524:p.Pro357His					LRRIQ3_uc001dfz.3_RNA	p.P357H	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN			7	1262	-			357					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	c.1070C>A	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.271902	0.40194	.	.	ENSG00000162620	ENST00000395089;ENST00000354431	T;T	0.09723	2.95;2.95	5.62	4.69	0.59074	.	0.185548	0.26662	N	0.023155	T	0.11239	0.0274	L	0.29908	0.895	0.09310	N	1	D	0.89917	1.0	D	0.73380	0.98	T	0.03325	-1.1048	10	0.72032	D	0.01	.	10.9996	0.47598	0.0895:0.0:0.9105:0.0	.	357	A6PVS8	LRIQ3_HUMAN	H	357	ENSP00000378524:P357H;ENSP00000346414:P357H	ENSP00000346414:P357H	P	-	2	0	LRRIQ3	74280133	0.956000	0.32656	0.070000	0.20053	0.018000	0.09664	2.779000	0.47734	2.822000	0.97130	0.650000	0.86243	CCC		0.338	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		4	39	1	0	2.56e-06	3.19e-06	4	39				
ZZZ3	26009	broad.mit.edu	37	1	78098771	78098771	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:78098771G>A	ENST00000370801.3	-	5	744	c.269C>T	c.(268-270)tCt>tTt	p.S90F	ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'Flank	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	90					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CTTTTCTGAAGAAGAAAGTCC	0.383																																						uc001dhq.2		NA																	0				ovary(4)|large_intestine(1)	5						c.(268-270)TCT>TTT		zinc finger, ZZ-type containing 3							228.0	239.0	235.0					1																	78098771		2203	4300	6503	SO:0001583	missense	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78098771G>A	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.269C>T	1.37:g.78098771G>A	ENSP00000359837:p.Ser90Phe					ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.S90F|ZZZ3_uc001dhp.2_Missense_Mutation_p.S90F	p.S90F	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN			5	745	-			90					B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	c.269C>T	CCDS677.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.403425	0.25291	.	.	ENSG00000036549	ENST00000370801	.	.	.	5.55	5.55	0.83447	.	0.333730	0.34676	N	0.003776	T	0.39784	0.1091	L	0.33485	1.01	0.80722	D	1	D;P;P	0.53151	0.958;0.838;0.899	P;B;P	0.51135	0.66;0.28;0.471	T	0.14392	-1.0474	8	.	.	.	.	13.149	0.59478	0.0731:0.0:0.9268:0.0	.	90;90;90	Q8IYH5-4;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	F	90	.	.	S	-	2	0	ZZZ3	77871359	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.232000	0.51302	2.759000	0.94783	0.650000	0.86243	TCT		0.383	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		17	157	0	0	0	0	17	157				
ELTD1	64123	broad.mit.edu	37	1	79470764	79470764	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:79470764T>A	ENST00000370742.3	-	2	226	c.163A>T	c.(163-165)Att>Ttt	p.I55F		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	55	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CCTTCACAAATTGTGACACCA	0.373																																						uc001diq.3		NA																	0				ovary(1)|skin(1)	2						c.(163-165)ATT>TTT		EGF, latrophilin and seven transmembrane domain							144.0	130.0	134.0					1																	79470764		1840	4094	5934	SO:0001583	missense	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79470764T>A	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.163A>T	1.37:g.79470764T>A	ENSP00000359778:p.Ile55Phe						p.I55F	NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	2	319	-			55			Extracellular (Potential).|EGF-like 1.		B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.163A>T	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	T	4.898	0.166873	0.09339	.	.	ENSG00000162618	ENST00000370742	T	0.36878	1.23	5.65	0.686	0.18015	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.355286	0.31648	N	0.007298	T	0.04634	0.0126	N	0.05414	-0.055	0.35622	D	0.809544	B	0.02656	0.0	B	0.01281	0.0	T	0.30327	-0.9982	9	.	.	.	.	3.9519	0.09372	0.1456:0.2365:0.0:0.6178	.	55	Q9HBW9	ELTD1_HUMAN	F	55	ENSP00000359778:I55F	.	I	-	1	0	ELTD1	79243352	0.980000	0.34600	0.939000	0.37840	0.370000	0.29829	0.685000	0.25378	-0.128000	0.11641	-1.539000	0.00912	ATT		0.373	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		7	76	0	0	0	0	7	76				
COL24A1	255631	broad.mit.edu	37	1	86289270	86289270	+	Silent	SNP	G	G	T	rs143522499	byFrequency	TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:86289270G>T	ENST00000370571.2	-	45	4104	c.3738C>A	c.(3736-3738)ggC>ggA	p.G1246G	COL24A1_ENST00000436319.1_Silent_p.G1246G	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1246	Collagen-like 13.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CACCTGGTTCGCCCTTTAGTA	0.318																																						uc001dlj.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(3736-3738)GGC>GGA		collagen, type XXIV, alpha 1 precursor							119.0	110.0	113.0					1																	86289270		1832	4093	5925	SO:0001819	synonymous_variant	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86289270G>T	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.3738C>A	1.37:g.86289270G>T						COL24A1_uc001dli.2_Silent_p.G382G|COL24A1_uc010osd.1_Silent_p.G546G|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	p.G1246G	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	45	3780	-			1246			Collagen-like 13.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Silent	SNP	ENST00000370571.2	37	c.3738C>A	CCDS41353.1																																																																																				0.318	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		5	56	1	0	0.000602214	0.000685833	5	56				
KCNA3	3738	broad.mit.edu	37	1	111217039	111217039	+	Silent	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:111217039G>T	ENST00000369769.2	-	1	616	c.393C>A	c.(391-393)ggC>ggA	p.G131G		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	131					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	GCTTGGGGTCGCCCAGCAGCG	0.627																																						uc001dzv.1		NA																	0				ovary(4)|pancreas(1)	5						c.(391-393)GGC>GGA		potassium voltage-gated channel, shaker-related							46.0	55.0	52.0					1																	111217039		2203	4300	6503	SO:0001819	synonymous_variant	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111217039G>T	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.393C>A	1.37:g.111217039G>T							p.G131G	NM_002232	NP_002223	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	617	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	131					Q5VWN2	Silent	SNP	ENST00000369769.2	37	c.393C>A	CCDS828.2																																																																																				0.627	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		13	117	1	0	7.04e-09	9.43e-09	13	117				
ADAMTSL4	54507	broad.mit.edu	37	1	150529140	150529140	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:150529140G>A	ENST00000369038.2	+	8	1821	c.1620G>A	c.(1618-1620)tgG>tgA	p.W540*	RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Nonsense_Mutation_p.W540*|ADAMTSL4_ENST00000369041.5_Nonsense_Mutation_p.W540*|ADAMTSL4_ENST00000369039.5_Nonsense_Mutation_p.W563*			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	540					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			ATGGGAACTGGGCTGTGGATC	0.612																																						uc001eux.2		NA																	0				ovary(1)|skin(1)	2						c.(1618-1620)TGG>TGA		thrombospondin repeat containing 1 isoform 1							73.0	84.0	81.0					1																	150529140		2203	4300	6503	SO:0001587	stop_gained	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150529140G>A	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.1620G>A	1.37:g.150529140G>A	ENSP00000358034:p.Trp540*					ADAMTSL4_uc001euw.2_Nonsense_Mutation_p.W540*|ADAMTSL4_uc009wlw.2_Nonsense_Mutation_p.W563*|ADAMTSL4_uc010pcg.1_Nonsense_Mutation_p.W563*|ADAMTSL4_uc009wlx.2_5'Flank	p.W540*	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		10	1856	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		540					B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Nonsense_Mutation	SNP	ENST00000369038.2	37	c.1620G>A	CCDS955.1	.	.	.	.	.	.	.	.	.	.	G	40	8.112560	0.98659	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000407995;ENST00000369039;ENST00000369038	.	.	.	4.54	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8222	0.70082	0.0:0.0:1.0:0.0	.	.	.	.	X	540;540;78;563;540	.	ENSP00000271643:W540X	W	+	3	0	ADAMTSL4	148795764	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.248000	0.78268	2.346000	0.79739	0.462000	0.41574	TGG		0.612	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		16	147	0	0	0	0	16	147				
HRNR	388697	broad.mit.edu	37	1	152191468	152191468	+	Silent	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:152191468G>T	ENST00000368801.2	-	3	2712	c.2637C>A	c.(2635-2637)ggC>ggA	p.G879G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	879					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCGGCCGCGGCCCGAAGCGT	0.622																																						uc001ezt.1		NA																	0				skin(2)|ovary(1)	3						c.(2635-2637)GGC>GGA		hornerin							93.0	100.0	98.0					1																	152191468		2203	4300	6503	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152191468G>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2637C>A	1.37:g.152191468G>T							p.G879G	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2713	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		879			10		Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.2637C>A	CCDS30859.1																																																																																				0.622	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		48	90	1	0	3.77e-25	5.64e-25	48	90				
SPTA1	6708	broad.mit.edu	37	1	158583633	158583633	+	Silent	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:158583633C>G	ENST00000368147.4	-	50	7047	c.6867G>C	c.(6865-6867)ggG>ggC	p.G2289G	SPTA1_ENST00000485680.1_5'Flank	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2289	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GAGTCAGGCGCCCTGTCAAAT	0.408																																						uc001fst.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(6865-6867)GGG>GGC		spectrin, alpha, erythrocytic 1							48.0	46.0	46.0					1																	158583633		1851	4090	5941	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158583633C>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6867G>C	1.37:g.158583633C>G							p.G2289G	NM_003126	NP_003117	P02549	SPTA1_HUMAN			50	7066	-	all_hematologic(112;0.0378)		2289			EF-hand 1.|1 (Potential).		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.6867G>C	CCDS41423.1																																																																																				0.408	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		14	29	0	0	0	0	14	29				
OR6K2	81448	broad.mit.edu	37	1	158669539	158669539	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:158669539T>A	ENST00000359610.2	-	1	947	c.904A>T	c.(904-906)Ata>Tta	p.I302L		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TGCTTTTTTATAGCTTCTTTT	0.378																																						uc001fsu.1		NA																	0				pancreas(1)	1						c.(904-906)ATA>TTA		olfactory receptor, family 6, subfamily K,							72.0	71.0	71.0					1																	158669539		2203	4300	6503	SO:0001583	missense	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158669539T>A	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.904A>T	1.37:g.158669539T>A	ENSP00000352626:p.Ile302Leu						p.I302L	NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN			1	904	-	all_hematologic(112;0.0378)		302			Cytoplasmic (Potential).		B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	c.904A>T	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.276122	0.00254	.	.	ENSG00000196171	ENST00000359610	T	0.31510	1.49	4.81	2.4	0.29515	.	0.175189	0.28301	N	0.015848	T	0.01592	0.0051	N	0.01048	-1.04	0.09310	N	1	B	0.15141	0.012	B	0.21151	0.033	T	0.43196	-0.9406	10	0.02654	T	1	-5.5535	1.4925	0.02459	0.2893:0.085:0.1497:0.476	.	302	Q8NGY2	OR6K2_HUMAN	L	302	ENSP00000352626:I302L	ENSP00000352626:I302L	I	-	1	0	OR6K2	156936163	0.432000	0.25554	0.317000	0.25265	0.052000	0.14988	0.798000	0.27014	0.836000	0.34901	-0.444000	0.05651	ATA		0.378	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		13	25	0	0	0	0	13	25				
NMNAT2	23057	broad.mit.edu	37	1	183387391	183387391	+	Silent	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:183387391G>C	ENST00000287713.6	-	1	346	c.12C>G	c.(10-12)acC>acG	p.T4T		NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	4					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|late endosome (GO:0005770)|synapse (GO:0045202)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						GGGTCTTGGTGGTCTCGGTCA	0.567																																						uc001gqc.1		NA																	0				skin(1)	1						c.(10-12)ACC>ACG		nicotinamide mononucleotide adenylyltransferase							294.0	233.0	254.0					1																	183387391		2203	4300	6503	SO:0001819	synonymous_variant	23057				water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity	g.chr1:183387391G>C	AF288395	CCDS1353.1, CCDS1354.1	1q25	2008-02-05	2003-04-30	2003-05-02	ENSG00000157064	ENSG00000157064			16789	protein-coding gene	gene with protein product		608701	"""chromosome 1 open reading frame 15"""	C1orf15		11318611, 12359228	Standard	NM_015039		Approved	KIAA0479, PNAT2	uc001gqc.2	Q9BZQ4	OTTHUMG00000035519	ENST00000287713.6:c.12C>G	1.37:g.183387391G>C							p.T4T	NM_015039	NP_055854	Q9BZQ4	NMNA2_HUMAN			1	347	-			4					O75067|Q5T1Q3|Q8WU99|Q96QW1	Silent	SNP	ENST00000287713.6	37	c.12C>G	CCDS1353.1																																																																																				0.567	NMNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086255.1			48	93	0	0	0	0	48	93				
LHX9	56956	broad.mit.edu	37	1	197898131	197898131	+	Splice_Site	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:197898131G>C	ENST00000367387.4	+	5	1361		c.e5-1		LHX9_ENST00000367391.1_Intron|LHX9_ENST00000561173.1_Intron|LHX9_ENST00000367390.3_Splice_Site|LHX9_ENST00000337020.2_Intron	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9						cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						TTGGTTTGCAGGTTTGGTTCC	0.413																																						uc001guk.1		NA																	0				ovary(1)	1						c.e5-1		LIM homeobox 9 isoform 1							50.0	52.0	51.0					1																	197898131		2203	4300	6503	SO:0001630	splice_region_variant	56956				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:197898131G>C	AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"""Homeoboxes / LIM class"""	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.937-1G>C	1.37:g.197898131G>C						LHX9_uc001gui.1_Splice_Site_p.V304_splice|LHX9_uc001guj.1_Intron	p.V313_splice	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN			5	1374	+								Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Splice_Site	SNP	ENST00000367387.4	37	c.937_splice	CCDS1393.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709431	0.68730	.	.	ENSG00000143355	ENST00000367390;ENST00000367387	.	.	.	5.78	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9954	0.71428	0.0685:0.0:0.9315:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LHX9	196164754	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.455000	0.97625	1.452000	0.47756	0.591000	0.81541	.		0.413	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204	Intron	20	22	0	0	0	0	20	22				
CACNA1S	779	broad.mit.edu	37	1	201047133	201047133	+	Missense_Mutation	SNP	C	C	A	rs150590855	byFrequency	TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:201047133C>A	ENST00000362061.3	-	11	1719	c.1493G>T	c.(1492-1494)cGc>cTc	p.R498L	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R498L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	498					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GCAGTCGAAGCGGTTGAAGAT	0.592													C|||	3	0.000599042	0.0	0.0014	5008	,	,		19824	0.0		0.002	False		,,,				2504	0.0					uc001gvv.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1492-1494)CGC>CTC		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)	C	LEU/ARG	0,4406		0,0,2203	136.0	112.0	120.0		1493	4.8	1.0	1	dbSNP_134	120	11,8589	8.4+/-32.0	0,11,4289	yes	missense	CACNA1S	NM_000069.2	102	0,11,6492	AA,AC,CC		0.1279,0.0,0.0846	probably-damaging	498/1874	201047133	11,12995	2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201047133C>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1493G>T	1.37:g.201047133C>A	ENSP00000355192:p.Arg498Leu						p.R498L	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			11	1720	-			498			Helical; Name=S3 of repeat II; (Potential).|II.		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.1493G>T	CCDS1407.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	32	5.154573	0.94686	0.0	0.001279	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98264	-4.83;-4.83	4.78	4.78	0.61160	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98654	0.9549	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99900	1.1158	10	0.87932	D	0	.	18.141	0.89639	0.0:1.0:0.0:0.0	.	498	Q13698	CAC1S_HUMAN	L	498	ENSP00000355192:R498L;ENSP00000356307:R498L	ENSP00000355192:R498L	R	-	2	0	CACNA1S	199313756	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.795000	0.85887	2.351000	0.79841	0.643000	0.83706	CGC		0.592	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		39	74	1	0	5.45e-19	8.01e-19	39	74				
OR2L13	284521	broad.mit.edu	37	1	248262829	248262829	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:248262829A>G	ENST00000358120.2	+	2	297	c.152A>G	c.(151-153)gAt>gGt	p.D51G	OR2L13_ENST00000366478.2_Missense_Mutation_p.D51G			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	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)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			ATCCACGTGGATCCTCGTCTC	0.502																																						uc001ids.2		NA																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(151-153)GAT>GGT		olfactory receptor, family 2, subfamily L,							239.0	221.0	227.0					1																	248262829		2203	4300	6503	SO:0001583	missense	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248262829A>G	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.152A>G	1.37:g.248262829A>G	ENSP00000350836:p.Asp51Gly						p.D51G	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	489	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		51			Cytoplasmic (Potential).		Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	c.152A>G	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	A	14.13	2.442147	0.43326	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.02890	4.12;4.12	4.07	4.07	0.47477	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	D	0.000381	T	0.16599	0.0399	M	0.91920	3.255	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.06570	-1.0819	10	0.87932	D	0	.	7.3667	0.26776	0.8964:0.0:0.1036:0.0	.	51	Q8N349	OR2LD_HUMAN	G	51	ENSP00000355434:D51G;ENSP00000350836:D51G	ENSP00000350836:D51G	D	+	2	0	OR2L13	246329452	0.000000	0.05858	0.006000	0.13384	0.023000	0.10783	0.879000	0.28146	1.688000	0.51068	0.528000	0.53228	GAT		0.502	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		6	151	0	0	0	0	6	151				
OR2T33	391195	broad.mit.edu	37	1	248436759	248436759	+	Missense_Mutation	SNP	G	G	T	rs375842071		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr1:248436759G>T	ENST00000318021.2	-	1	379	c.358C>A	c.(358-360)Cgc>Agc	p.R120S		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCCGCATAGCGGTCATAGGCC	0.592																																						uc010pzi.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(358-360)CGC>AGC		olfactory receptor, family 2, subfamily T,							39.0	36.0	37.0					1																	248436759		2201	4278	6479	SO:0001583	missense	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436759G>T		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.358C>A	1.37:g.248436759G>T	ENSP00000324687:p.Arg120Ser						p.R120S	NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	358	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		120			Cytoplasmic (Potential).		B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	c.358C>A	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	11.24	1.579180	0.28180	.	.	ENSG00000177212	ENST00000318021	T	0.77620	-1.11	2.7	2.7	0.31948	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35970	U	0.002879	D	0.91280	0.7251	H	0.98559	4.265	0.35528	D	0.801994	D	0.61697	0.99	P	0.61874	0.895	D	0.96273	0.9200	10	0.87932	D	0	.	13.8042	0.63220	0.0:0.0:1.0:0.0	.	120	Q8NG76	O2T33_HUMAN	S	120	ENSP00000324687:R120S	ENSP00000324687:R120S	R	-	1	0	OR2T33	246503382	1.000000	0.71417	0.469000	0.27204	0.023000	0.10783	2.405000	0.44548	1.437000	0.47472	0.494000	0.49563	CGC		0.592	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		21	95	1	0	2.85e-18	4.18e-18	21	95				
NRG3	10718	broad.mit.edu	37	10	84745309	84745309	+	Missense_Mutation	SNP	C	C	T	rs367831182		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr10:84745309C>T	ENST00000404547.1	+	10	2111	c.2111C>T	c.(2110-2112)gCg>gTg	p.A704V	NRG3_ENST00000372142.2_Missense_Mutation_p.A483V|NRG3_ENST00000556918.1_Missense_Mutation_p.A510V|NRG3_ENST00000537893.1_Missense_Mutation_p.A330V|NRG3_ENST00000372141.2_Missense_Mutation_p.A680V|NRG3_ENST00000404576.2_Missense_Mutation_p.A484V|NRG3_ENST00000545131.1_Missense_Mutation_p.A330V			P56975	NRG3_HUMAN	neuregulin 3	704					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GAACGAGAGGCGCAATTTGTC	0.463																																						uc001kco.2		NA																	0				lung(5)|breast(1)	6						c.(2038-2040)GCG>GTG		neuregulin 3 isoform 1		C	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	76.0	73.0	74.0		2039,2036,1448	5.2	1.0	10		74	3,8597	2.2+/-6.3	0,3,4297	no	missense,missense,missense	NRG3	NM_001010848.3,NM_001165972.1,NM_001165973.1	64,64,64	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging,possibly-damaging,possibly-damaging	680/697,679/696,483/500	84745309	3,13003	2203	4300	6503	SO:0001583	missense	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:84745309C>T	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.2111C>T	10.37:g.84745309C>T	ENSP00000384796:p.Ala704Val					NRG3_uc010qlz.1_Missense_Mutation_p.A679V|NRG3_uc001kcp.2_Missense_Mutation_p.A483V|NRG3_uc001kcq.2_Missense_Mutation_p.A330V|NRG3_uc001kcr.2_Missense_Mutation_p.A354V	p.A680V	NM_001010848	NP_001010848	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	9	2066	+			704			Cytoplasmic (Potential).		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	c.2039C>T	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.002665	0.54254	0.0	3.49E-4	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.55234	1.16;1.1;1.12;0.53;1.09;0.64;0.64	5.15	5.15	0.70609	.	0.087250	0.49305	D	0.000151	T	0.59074	0.2167	L	0.43152	1.355	0.42704	D	0.99362	D;D;D;D	0.64830	0.981;0.991;0.994;0.981	B;P;P;B	0.53912	0.431;0.666;0.737;0.431	T	0.63532	-0.6616	10	0.87932	D	0	-36.0478	16.4799	0.84155	0.0:1.0:0.0:0.0	.	679;704;483;680	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	V	680;704;679;483;484;510;330;330	ENSP00000361214:A680V;ENSP00000384796:A704V;ENSP00000361215:A483V;ENSP00000385804:A484V;ENSP00000451376:A510V;ENSP00000441201:A330V;ENSP00000440377:A330V	ENSP00000361214:A680V	A	+	2	0	NRG3	84735289	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.677000	0.54619	2.567000	0.86603	0.591000	0.81541	GCG		0.463	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		5	36	0	0	0	0	5	36				
GRID1	2894	broad.mit.edu	37	10	87487719	87487719	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr10:87487719T>G	ENST00000327946.7	-	10	1511	c.1426A>C	c.(1426-1428)Aag>Cag	p.K476Q	GRID1_ENST00000536331.1_Missense_Mutation_p.K47Q	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	476					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CCCAGAGCCTTGGCCAGTGCA	0.532										Multiple Myeloma(13;0.14)																												uc001kdl.1		NA																	0				ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10						c.(1426-1428)AAG>CAG		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						176.0	169.0	171.0					10																	87487719		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87487719T>G	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1426A>C	10.37:g.87487719T>G	ENSP00000330148:p.Lys476Gln	Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.K47Q	p.K476Q	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			10	1527	-			476			Extracellular (Potential).		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.1426A>C	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	T	17.74	3.463199	0.63513	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.14144	2.53;2.53	5.7	4.57	0.56435	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.134314	0.64402	D	0.000002	T	0.20292	0.0488	L	0.49350	1.555	0.53005	D	0.999969	P	0.45634	0.863	P	0.49387	0.609	T	0.00597	-1.1652	10	0.54805	T	0.06	.	10.652	0.45653	0.0:0.075:0.0:0.925	.	476	Q9ULK0	GRID1_HUMAN	Q	476;47	ENSP00000330148:K476Q;ENSP00000444455:K47Q	ENSP00000330148:K476Q	K	-	1	0	GRID1	87477699	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	8.026000	0.88783	0.993000	0.38866	0.491000	0.48974	AAG		0.532	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		21	148	0	0	0	0	21	148				
CYP26A1	1592	broad.mit.edu	37	10	94834702	94834702	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr10:94834702T>A	ENST00000224356.4	+	3	626	c.581T>A	c.(580-582)cTg>cAg	p.L194Q	CYP26A1_ENST00000371531.1_Missense_Mutation_p.L125Q|CYP26A1_ENST00000394139.1_Missense_Mutation_p.L125Q	NM_000783.3	NP_000774.2	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	194					anterior/posterior pattern specification (GO:0009952)|cellular response to retinoic acid (GO:0071300)|central nervous system development (GO:0007417)|metabolic process (GO:0008152)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)			Acitretin(DB00459)|Ketoconazole(DB01026)|Vitamin A(DB00162)	CGCATCCTACTGGGCTGCGAA	0.657																																						uc001kil.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3						c.(580-582)CTG>CAG		cytochrome P450, family 26, subfamily A,							42.0	47.0	45.0					10																	94834702		2203	4299	6502	SO:0001583	missense	1592				negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr10:94834702T>A	AF005418	CCDS7426.1, CCDS7427.1	10q23-q24	2003-10-06	2003-01-14		ENSG00000095596	ENSG00000095596		"""Cytochrome P450s"""	2603	protein-coding gene	gene with protein product		602239	"""cytochrome P450, subfamily XXVIA, polypeptide 1"""			9228017, 9521883	Standard	NM_000783		Approved	P450RAI, CP26, CYP26, P450RAI1	uc001kil.2	O43174	OTTHUMG00000018765	ENST00000224356.4:c.581T>A	10.37:g.94834702T>A	ENSP00000224356:p.Leu194Gln					CYP26A1_uc001kik.1_Missense_Mutation_p.L125Q|CYP26A1_uc001kim.1_Missense_Mutation_p.L92Q	p.L194Q	NM_000783	NP_000774	O43174	CP26A_HUMAN			3	626	+		Colorectal(252;0.122)	194					B3KNI4|Q5VXH9|Q5VXI0	Missense_Mutation	SNP	ENST00000224356.4	37	c.581T>A	CCDS7426.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.150429	0.78001	.	.	ENSG00000095596	ENST00000371531;ENST00000224356;ENST00000394139	T;T;T	0.71222	-0.55;-0.55;-0.55	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.84800	0.5552	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.87394	0.2365	10	0.87932	D	0	-7.83	14.9255	0.70875	0.0:0.0:0.0:1.0	.	125;194	B3KNI4;O43174	.;CP26A_HUMAN	Q	125;194;125	ENSP00000360586:L125Q;ENSP00000224356:L194Q;ENSP00000377695:L125Q	ENSP00000224356:L194Q	L	+	2	0	CYP26A1	94824692	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	7.864000	0.87037	2.116000	0.64780	0.379000	0.24179	CTG		0.657	CYP26A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049408.3			11	87	0	0	0	0	11	87				
RBP4	5950	broad.mit.edu	37	10	95360773	95360773	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr10:95360773A>G	ENST00000371467.1	-	2	332	c.13T>C	c.(13-15)Tgg>Cgg	p.W5R	RBP4_ENST00000371469.2_Intron|RBP4_ENST00000371464.3_Missense_Mutation_p.W5R|FFAR4_ENST00000604414.1_Intron			P02753	RET4_HUMAN	retinol binding protein 4, plasma	5					cardiac muscle tissue development (GO:0048738)|detection of light stimulus involved in visual perception (GO:0050908)|embryonic organ morphogenesis (GO:0048562)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic skeletal system development (GO:0048706)|eye development (GO:0001654)|female genitalia morphogenesis (GO:0048807)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|lung development (GO:0030324)|maintenance of gastrointestinal epithelium (GO:0030277)|male gonad development (GO:0008584)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|phototransduction, visible light (GO:0007603)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of insulin secretion (GO:0032024)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to retinoic acid (GO:0032526)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|retinol transport (GO:0034633)|spermatogenesis (GO:0007283)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	retinal binding (GO:0016918)|retinol binding (GO:0019841)|retinol transporter activity (GO:0034632)			large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	AAGAGCGCCCACACCCACTTC	0.701																																					Pancreas(5;160 256 1117 46697 50185)	uc001kit.2		NA																	0					0						c.(13-15)TGG>CGG		retinol-binding protein 4, plasma precursor	Vitamin A(DB00162)						24.0	29.0	28.0					10																	95360773		2172	4251	6423	SO:0001583	missense	5950				cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding	g.chr10:95360773A>G	BC020633	CCDS31249.1	10q23.33	2014-01-22	2001-11-28		ENSG00000138207	ENSG00000138207		"""Lipocalins"""	9922	protein-coding gene	gene with protein product		180250	"""retinol-binding protein 4, plasma"""				Standard	XM_005270023		Approved		uc001kit.3	P02753	OTTHUMG00000018773	ENST00000371467.1:c.13T>C	10.37:g.95360773A>G	ENSP00000360522:p.Trp5Arg						p.W5R	NM_006744	NP_006735	P02753	RET4_HUMAN			2	97	-		Colorectal(252;0.122)	5					D3DR38|O43478|O43479|Q5VY24|Q8WWA3|Q9P178	Missense_Mutation	SNP	ENST00000371467.1	37	c.13T>C	CCDS31249.1	.	.	.	.	.	.	.	.	.	.	A	15.49	2.848316	0.51164	.	.	ENSG00000138207	ENST00000371464;ENST00000371467	T;T	0.72282	-0.64;-0.64	4.79	4.79	0.61399	.	0.414749	0.27631	N	0.018515	T	0.47911	0.1471	N	0.11560	0.145	0.32390	N	0.553366	B	0.20887	0.049	B	0.14578	0.011	T	0.52975	-0.8503	10	0.26408	T	0.33	-12.9618	8.7293	0.34489	0.8082:0.1918:0.0:0.0	.	5	P02753	RET4_HUMAN	R	5	ENSP00000360519:W5R;ENSP00000360522:W5R	ENSP00000360519:W5R	W	-	1	0	RBP4	95350763	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	3.125000	0.50469	1.792000	0.52537	0.369000	0.22263	TGG		0.701	RBP4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049431.1	NM_006744		9	71	0	0	0	0	9	71				
C10orf12	26148	broad.mit.edu	37	10	98743264	98743264	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr10:98743264C>T	ENST00000286067.2	+	1	2224	c.2117C>T	c.(2116-2118)tCg>tTg	p.S706L		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	706										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CTTGGGTTGTCGAGTAGTGGA	0.507																																						uc001kmv.2		NA																	0				skin(2)	2						c.(2116-2118)TCG>TTG		hypothetical protein LOC26148							69.0	63.0	65.0					10																	98743264		2203	4300	6503	SO:0001583	missense	26148							g.chr10:98743264C>T	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.2117C>T	10.37:g.98743264C>T	ENSP00000286067:p.Ser706Leu						p.S706L	NM_015652	NP_056467	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	2224	+		Colorectal(252;0.172)	706					Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	c.2117C>T	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.311060	0.40895	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.09538	2.97	5.82	3.86	0.44501	.	0.612736	0.12507	N	0.462803	T	0.17408	0.0418	L	0.29908	0.895	0.09310	N	1	D	0.89917	1.0	D	0.64237	0.923	T	0.09997	-1.0649	10	0.56958	D	0.05	-0.7599	7.2122	0.25939	0.0:0.7385:0.1719:0.0895	.	706	Q8N655	CJ012_HUMAN	L	706;540	ENSP00000286067:S706L	ENSP00000286067:S706L	S	+	2	0	C10orf12	98733254	0.149000	0.22717	0.010000	0.14722	0.011000	0.07611	3.486000	0.53215	1.468000	0.48064	0.561000	0.74099	TCG		0.507	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		12	48	0	0	0	0	12	48				
SORCS1	114815	broad.mit.edu	37	10	108389130	108389130	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr10:108389130G>C	ENST00000263054.6	-	19	2499	c.2492C>G	c.(2491-2493)aCa>aGa	p.T831R	SORCS1_ENST00000369698.1_Missense_Mutation_p.T366R|SORCS1_ENST00000344440.6_Missense_Mutation_p.T831R	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	831	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TTGGATGAGTGTCCGCTGAAC	0.507																																						uc001kym.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(2491-2493)ACA>AGA		SORCS receptor 1 isoform a							125.0	92.0	103.0					10																	108389130		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108389130G>C	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2492C>G	10.37:g.108389130G>C	ENSP00000263054:p.Thr831Arg					SORCS1_uc001kyl.2_Missense_Mutation_p.T831R|SORCS1_uc009xxs.2_Missense_Mutation_p.T831R|SORCS1_uc001kyn.1_Missense_Mutation_p.T831R|SORCS1_uc001kyo.2_Missense_Mutation_p.T831R	p.T831R	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	19	2500	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	831			Lumenal (Potential).|PKD.		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.2492C>G	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163682	0.78226	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.63255	-0.03;-0.03;-0.03	5.67	5.67	0.87782	PKD/Chitinase domain (1);PKD domain (3);	0.130569	0.50627	D	0.000108	T	0.76456	0.3990	M	0.70595	2.14	0.46061	D	0.998841	D;D;D;D;D	0.63046	0.992;0.99;0.99;0.992;0.99	D;D;D;D;D	0.72625	0.978;0.962;0.962;0.978;0.962	T	0.76208	-0.3043	9	.	.	.	-14.3162	13.0356	0.58870	0.0734:0.0:0.9266:0.0	.	831;831;831;831;831	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	R	366;831;831	ENSP00000358712:T366R;ENSP00000263054:T831R;ENSP00000345964:T831R	.	T	-	2	0	SORCS1	108379120	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	5.444000	0.66587	2.680000	0.91292	0.655000	0.94253	ACA		0.507	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		5	25	0	0	0	0	5	25				
TECTB	6975	broad.mit.edu	37	10	114045943	114045943	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr10:114045943T>A	ENST00000369422.3	+	3	382	c.382T>A	c.(382-384)Ttg>Atg	p.L128M		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	128	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		CTCCACCTACTTGGTGAACCA	0.502																																						uc001kzr.1		NA																	0					0						c.(382-384)TTG>ATG		tectorin beta precursor							149.0	122.0	132.0					10																	114045943		2203	4300	6503	SO:0001583	missense	6975					anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr10:114045943T>A	AF312827	CCDS7571.1	10q25-q26	2005-06-09			ENSG00000119913	ENSG00000119913			11721	protein-coding gene	gene with protein product		602653				9079715	Standard	NM_058222		Approved		uc001kzr.1	Q96PL2	OTTHUMG00000019056	ENST00000369422.3:c.382T>A	10.37:g.114045943T>A	ENSP00000358430:p.Leu128Met						p.L128M	NM_058222	NP_478129	Q96PL2	TECTB_HUMAN		Epithelial(162;0.0143)|all cancers(201;0.0242)	3	382	+		Colorectal(252;0.198)	128			ZP.		Q5VW53	Missense_Mutation	SNP	ENST00000369422.3	37	c.382T>A	CCDS7571.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.991333	0.74703	.	.	ENSG00000119913	ENST00000369422	D	0.82711	-1.64	6.17	-2.91	0.05631	Zona pellucida sperm-binding protein (3);	0.000000	0.85682	D	0.000000	D	0.87869	0.6286	M	0.62723	1.935	0.49130	D	0.99975	D	0.76494	0.999	D	0.91635	0.999	D	0.85997	0.1492	10	0.48119	T	0.1	.	16.6825	0.85296	0.0:0.6597:0.0:0.3403	.	128	Q96PL2	TECTB_HUMAN	M	128	ENSP00000358430:L128M	ENSP00000358430:L128M	L	+	1	2	TECTB	114035933	0.918000	0.31147	0.978000	0.43139	0.988000	0.76386	0.036000	0.13819	-0.525000	0.06391	-0.408000	0.06270	TTG		0.502	TECTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050381.1	NM_058222		19	73	0	0	0	0	19	73				
MKI67	4288	broad.mit.edu	37	10	129903439	129903439	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr10:129903439C>A	ENST00000368654.3	-	13	7040	c.6665G>T	c.(6664-6666)aGa>aTa	p.R2222I	MKI67_ENST00000368653.3_Missense_Mutation_p.R1862I	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2222	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTGTGGAGATCTGCAGGCTAT	0.493																																						uc001lke.2		NA																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(6664-6666)AGA>ATA		antigen identified by monoclonal antibody Ki-67							241.0	233.0	236.0					10																	129903439		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129903439C>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.6665G>T	10.37:g.129903439C>A	ENSP00000357643:p.Arg2222Ile					MKI67_uc001lkf.2_Missense_Mutation_p.R1862I|MKI67_uc009yav.1_Missense_Mutation_p.R1797I|MKI67_uc009yaw.1_Missense_Mutation_p.R1372I	p.R2222I	NM_002417	NP_002408	P46013	KI67_HUMAN			13	6860	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2222			16 X 122 AA approximate repeats.|11.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.6665G>T	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	7.284	0.609633	0.14066	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02369	4.32;4.32	2.88	-5.76	0.02376	.	1.412200	0.04738	N	0.422362	T	0.02533	0.0077	N	0.22421	0.69	0.09310	N	1	B;B;B	0.33637	0.42;0.011;0.009	B;B;B	0.36289	0.221;0.012;0.004	T	0.29366	-1.0014	10	0.36615	T	0.2	.	7.615	0.28152	0.0:0.5416:0.2828:0.1756	.	2221;1862;2222	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	I	2222;1862;2221	ENSP00000357643:R2222I;ENSP00000357642:R1862I	ENSP00000357642:R1862I	R	-	2	0	MKI67	129793429	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.260000	0.01177	-2.482000	0.00522	-1.069000	0.02264	AGA		0.493	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		46	251	1	0	1.07e-23	1.59e-23	46	251				
MKI67	4288	broad.mit.edu	37	10	129906870	129906870	+	Silent	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr10:129906870T>A	ENST00000368654.3	-	13	3609	c.3234A>T	c.(3232-3234)ccA>ccT	p.P1078P	MKI67_ENST00000368653.3_Silent_p.P718P|MKI67_ENST00000484853.1_5'Flank	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1078	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CACGGGCTGCTGGGTCCAGGA	0.557																																						uc001lke.2		NA																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(3232-3234)CCA>CCT		antigen identified by monoclonal antibody Ki-67							183.0	169.0	174.0					10																	129906870		2203	4300	6503	SO:0001819	synonymous_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129906870T>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3234A>T	10.37:g.129906870T>A						MKI67_uc001lkf.2_Silent_p.P718P|MKI67_uc009yav.1_Silent_p.P653P|MKI67_uc009yaw.1_Silent_p.P228P	p.P1078P	NM_002417	NP_002408	P46013	KI67_HUMAN			13	3429	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1078			16 X 122 AA approximate repeats.|1.		Q5VWH2	Silent	SNP	ENST00000368654.3	37	c.3234A>T	CCDS7659.1																																																																																				0.557	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		27	199	0	0	0	0	27	199				
FRG2B	441581	broad.mit.edu	37	10	135438829	135438829	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr10:135438829C>A	ENST00000425520.1	-	4	663	c.611G>T	c.(610-612)tGt>tTt	p.C204F	FRG2B_ENST00000443774.1_Missense_Mutation_p.C205F	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	204						nucleus (GO:0005634)				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CAGCTGCTCACAGGTAAGTGG	0.557																																						uc010qvg.1		NA																	0					0						c.(610-612)TGT>TTT		FSHD region gene 2 family, member B							14.0	16.0	15.0					10																	135438829		1865	4045	5910	SO:0001583	missense	441581					nucleus		g.chr10:135438829C>A	AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.611G>T	10.37:g.135438829C>A	ENSP00000401310:p.Cys204Phe						p.C204F	NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	4	664	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	204					Q5VSQ1	Missense_Mutation	SNP	ENST00000425520.1	37	c.611G>T	CCDS44502.1	.	.	.	.	.	.	.	.	.	.	.	4.646	0.120123	0.08881	.	.	ENSG00000225899	ENST00000443774;ENST00000425520	T;T	0.41758	0.99;0.99	.	.	.	.	3.190950	0.00999	N	0.003650	T	0.24392	0.0591	N	0.08118	0	0.18873	N	0.999987	B	0.27351	0.176	B	0.27715	0.082	T	0.23013	-1.0200	8	0.48119	T	0.1	0.0766	.	.	.	.	204	Q96QU4	FRG2B_HUMAN	F	205;204	ENSP00000408343:C205F;ENSP00000401310:C204F	ENSP00000401310:C204F	C	-	2	0	FRG2B	135288819	0.015000	0.18098	0.478000	0.27316	0.483000	0.33249	0.259000	0.18405	0.119000	0.18210	0.121000	0.15741	TGT		0.557	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		11	74	1	0	0.000219431	0.000256404	11	74				
OR52M1	119772	broad.mit.edu	37	11	4567362	4567362	+	Missense_Mutation	SNP	G	G	A	rs148181600	byFrequency	TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:4567362G>A	ENST00000360213.1	+	1	942	c.942G>A	c.(940-942)atG>atA	p.M314I		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	314						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M314I(1)		endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGATAGAAATGAAGATTAGAT	0.403																																						uc010qyf.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(940-942)ATG>ATA		olfactory receptor, family 52, subfamily M,							61.0	58.0	59.0					11																	4567362		2201	4298	6499	SO:0001583	missense	119772				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4567362G>A	AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"""GPCR / Class A : Olfactory receptors"""	15225	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily M, member 1 pseudogene"""	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.942G>A	11.37:g.4567362G>A	ENSP00000353343:p.Met314Ile						p.M314I	NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	942	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	314			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000360213.1	37	c.942G>A	CCDS31353.1	.	.	.	.	.	.	.	.	.	.	G	7.667	0.686142	0.14973	.	.	ENSG00000197790	ENST00000360213	T	0.01084	5.36	4.82	-4.11	0.03928	.	1.023020	0.07808	N	0.957590	T	0.00754	0.0025	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48007	-0.9072	10	0.52906	T	0.07	.	1.8401	0.03148	0.1287:0.3034:0.333:0.2348	.	314	Q8NGK5	O52M1_HUMAN	I	314	ENSP00000353343:M314I	ENSP00000353343:M314I	M	+	3	0	OR52M1	4523938	0.001000	0.12720	0.006000	0.13384	0.019000	0.09904	-0.439000	0.06897	-0.852000	0.04141	-0.262000	0.10625	ATG		0.403	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385847.1	NM_001004137		7	22	0	0	0	0	7	22				
OR56A3	390083	broad.mit.edu	37	11	5968817	5968817	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:5968817G>T	ENST00000329564.6	+	1	248	c.241G>T	c.(241-243)Gtc>Ttc	p.V81F	AC025016.1_ENST00000528915.1_lincRNA	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGCCTCACTGTCATCCCCAA	0.567																																						uc010qzt.1		NA																	0					0						c.(241-243)GTC>TTC		olfactory receptor, family 56, subfamily A,							152.0	144.0	147.0					11																	5968817		2201	4296	6497	SO:0001583	missense	390083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5968817G>T		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.241G>T	11.37:g.5968817G>T	ENSP00000331572:p.Val81Phe						p.V81F	NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	241	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	81			Extracellular (Potential).		A6NN77|Q6IFF7	Missense_Mutation	SNP	ENST00000329564.6	37	c.241G>T	CCDS41614.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.264507	0.59431	.	.	ENSG00000184478	ENST00000329564	T	0.01821	4.62	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000050	T	0.07279	0.0184	L	0.48260	1.515	0.33682	D	0.612194	D	0.62365	0.991	D	0.70716	0.97	T	0.02909	-1.1095	10	0.72032	D	0.01	-70.4555	16.1998	0.82063	0.0:0.0:1.0:0.0	.	81	Q8NH54	O56A3_HUMAN	F	81	ENSP00000331572:V81F	ENSP00000331572:V81F	V	+	1	0	OR56A3	5925393	0.000000	0.05858	0.999000	0.59377	0.956000	0.61745	0.016000	0.13377	2.687000	0.91594	0.650000	0.86243	GTC		0.567	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		37	135	1	0	1.6e-16	2.32e-16	37	135				
PLEKHA7	144100	broad.mit.edu	37	11	16847840	16847840	+	Silent	SNP	C	C	T	rs141499859		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:16847840C>T	ENST00000355661.3	-	10	1180	c.1170G>A	c.(1168-1170)cgG>cgA	p.R390R	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Silent_p.R390R|PLEKHA7_ENST00000448080.2_Silent_p.R390R			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	390					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TCTTCTCTGCCCGTTGGGGCT	0.597																																						uc001mmo.2		NA																	0				skin(2)|central_nervous_system(1)	3						c.(1168-1170)CGG>CGA		pleckstrin homology domain containing, family A							61.0	64.0	63.0					11																	16847840		2200	4294	6494	SO:0001819	synonymous_variant	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16847840C>T	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.1170G>A	11.37:g.16847840C>T						PLEKHA7_uc010rcu.1_Silent_p.R390R|PLEKHA7_uc001mmn.2_Silent_p.R98R	p.R390R	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN			10	1185	-			390					B4DK33|B4DWC3|Q86VZ7	Silent	SNP	ENST00000355661.3	37	c.1170G>A	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	C	8.397	0.841098	0.16891	.	.	ENSG00000166689	ENST00000530489	.	.	.	5.25	-3.46	0.04767	.	.	.	.	.	T	0.17746	0.0426	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.26258	-1.0108	4	.	.	.	-14.4121	1.2191	0.01920	0.3993:0.2351:0.1982:0.1674	.	.	.	.	E	21	.	.	G	-	2	0	PLEKHA7	16804416	0.000000	0.05858	0.704000	0.30370	0.927000	0.56198	-1.923000	0.01567	-0.464000	0.06963	0.561000	0.74099	GGG		0.597	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		33	75	0	0	0	0	33	75				
LDHC	3948	broad.mit.edu	37	11	18451424	18451425	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:18451424_18451425CC>AA	ENST00000541669.1	+	4	496_497	c.385_386CC>AA	c.(385-387)CCt>AAt	p.P129N	LDHC_ENST00000537486.1_Missense_Mutation_p.P129N|LDHC_ENST00000535809.1_Missense_Mutation_p.P129N|LDHC_ENST00000280704.4_Missense_Mutation_p.P129N|LDHC_ENST00000536880.1_Missense_Mutation_p.P115N|LDHC_ENST00000546146.1_Intron|LDHC_ENST00000544105.1_Missense_Mutation_p.P129N			P07864	LDHC_HUMAN	lactate dehydrogenase C	129					ATP biosynthetic process (GO:0006754)|cellular carbohydrate metabolic process (GO:0044262)|lactate biosynthetic process from pyruvate (GO:0019244)|lactate oxidation (GO:0019516)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|motile cilium (GO:0031514)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCATTATAGTCCTGATTGTAAA	0.411																																						uc001mon.3		NA																	0					0						c.(385-387)CCT>AAT		L-lactate dehydrogenase C	NADH(DB00157)																																			SO:0001583	missense	3948				glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	g.chr11:18451424_18451425CC>AA	AY286300	CCDS7840.1	11p15.1	2012-10-02			ENSG00000166796	ENSG00000166796	1.1.1.27		6544	protein-coding gene	gene with protein product	"""cancer/testis antigen 32"""	150150					Standard	NM_002301		Approved	CT32	uc001mom.4	P07864	OTTHUMG00000167722	Exception_encountered	11.37:g.18451424_18451425delinsAA	ENSP00000437783:p.Pro129Asn					LDHC_uc001mom.3_Missense_Mutation_p.P129N|LDHC_uc009yhp.2_Missense_Mutation_p.P129N|LDHC_uc001moo.3_Missense_Mutation_p.P13N|LDHC_uc009yhq.2_Intron|LDHC_uc009yhr.2_Missense_Mutation_p.P13N	p.P129N	NM_017448	NP_059144	P07864	LDHC_HUMAN			4	497_498	+			129					D3DQY4|Q6GSG8|Q7Z7J4	Missense_Mutation	DNP	ENST00000541669.1	37	c.385_386CC>AA	CCDS7840.1																																																																																				0.411	LDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395892.1	NM_017448		12	67	0	0	0	0	12	67				
OR4C6	219432	broad.mit.edu	37	11	55432837	55432837	+	Silent	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:55432837C>A	ENST00000314259.3	+	1	224	c.195C>A	c.(193-195)tcC>tcA	p.S65S		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CCTTCTTGTCCCTTTTGGATG	0.448																																						uc001nht.3		NA																	0				skin(2)	2						c.(193-195)TCC>TCA		olfactory receptor, family 4, subfamily C,							290.0	251.0	264.0					11																	55432837		2200	4296	6496	SO:0001819	synonymous_variant	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55432837C>A	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.195C>A	11.37:g.55432837C>A						OR4C6_uc010rik.1_Silent_p.S65S	p.S65S	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	460	+			65			Helical; Name=2; (Potential).		B2RP11|Q6IFD2	Silent	SNP	ENST00000314259.3	37	c.195C>A	CCDS31506.1																																																																																				0.448	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		21	93	1	0	2.46e-09	3.33e-09	21	93				
OR5L2	26338	broad.mit.edu	37	11	55595555	55595555	+	Silent	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:55595555C>A	ENST00000378397.1	+	1	861	c.861C>A	c.(859-861)ccC>ccA	p.P287P		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TGCTGAACCCCCTGATCTACA	0.443										HNSCC(27;0.073)																												uc001nhy.1		NA																	0				ovary(1)	1						c.(859-861)CCC>CCA		olfactory receptor, family 5, subfamily L,							57.0	56.0	56.0					11																	55595555		2200	4296	6496	SO:0001819	synonymous_variant	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55595555C>A	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.861C>A	11.37:g.55595555C>A		HNSCC(27;0.073)					p.P287P	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			1	861	+		all_epithelial(135;0.208)	287			Helical; Name=7; (Potential).		Q6IF66|Q96RB2	Silent	SNP	ENST00000378397.1	37	c.861C>A	CCDS31511.1																																																																																				0.443	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		10	46	1	0	1.77e-08	2.34e-08	10	46				
OR8I2	120586	broad.mit.edu	37	11	55860982	55860982	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:55860982G>T	ENST00000302124.2	+	1	230	c.199G>T	c.(199-201)Gca>Tca	p.A67S		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GAGCAATTTAGCATTTATTGA	0.393																																						uc010rix.1		NA																	0				breast(1)	1						c.(199-201)GCA>TCA		olfactory receptor, family 8, subfamily I,							227.0	217.0	220.0					11																	55860982		2201	4296	6497	SO:0001583	missense	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55860982G>T	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.199G>T	11.37:g.55860982G>T	ENSP00000303864:p.Ala67Ser						p.A67S	NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN			1	199	+	Esophageal squamous(21;0.00693)		67			Helical; Name=2; (Potential).		B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	ENST00000302124.2	37	c.199G>T	CCDS31517.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.296646	0.00245	.	.	ENSG00000172154	ENST00000302124	T	0.01043	5.41	4.5	1.1	0.20463	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40144	U	0.001173	T	0.00328	0.0010	N	0.00131	-2.04	0.09310	N	1	B	0.21520	0.057	B	0.16289	0.015	T	0.48647	-0.9017	10	0.02654	T	1	-12.4278	13.1232	0.59338	0.0:0.0:0.3903:0.6097	.	67	Q8N0Y5	OR8I2_HUMAN	S	67	ENSP00000303864:A67S	ENSP00000303864:A67S	A	+	1	0	OR8I2	55617558	0.000000	0.05858	0.407000	0.26434	0.002000	0.02628	-0.244000	0.08903	0.390000	0.25115	0.440000	0.28878	GCA		0.393	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		27	136	1	0	2.66e-16	3.85e-16	27	136				
SLC43A3	29015	broad.mit.edu	37	11	57175325	57175325	+	Silent	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:57175325G>A	ENST00000395123.2	-	14	1720	c.1416C>T	c.(1414-1416)caC>caT	p.H472H	RP11-872D17.8_ENST00000529411.1_Intron|SLC43A3_ENST00000533524.1_Silent_p.H485H|SLC43A3_ENST00000529554.1_Silent_p.H472H|SLC43A3_ENST00000352187.1_Silent_p.H472H|SLC43A3_ENST00000395124.1_Silent_p.H472H	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	472					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						CCAGAAAGGGGTGGAAGAATG	0.463																																						uc001nkg.2		NA																	0				central_nervous_system(1)	1						c.(1414-1416)CAC>CAT		solute carrier family 43, member 3							131.0	107.0	115.0					11																	57175325		2201	4296	6497	SO:0001819	synonymous_variant	29015				transmembrane transport	integral to membrane		g.chr11:57175325G>A	AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.1416C>T	11.37:g.57175325G>A						PRG2_uc001nke.2_Intron|SLC43A3_uc001nkh.2_Silent_p.H472H|SLC43A3_uc010rjr.1_Silent_p.H485H|SLC43A3_uc009yme.2_Silent_p.H472H|SLC43A3_uc001nki.2_Silent_p.H472H	p.H472H	NM_014096	NP_054815	Q8NBI5	S43A3_HUMAN			14	1826	-			472			Helical; (Potential).		B4DNR8|E7EQD2|Q9NSS4	Silent	SNP	ENST00000395123.2	37	c.1416C>T	CCDS7956.1																																																																																				0.463	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611		18	44	0	0	0	0	18	44				
MS4A12	54860	broad.mit.edu	37	11	60269478	60269478	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:60269478C>T	ENST00000016913.4	+	4	494	c.437C>T	c.(436-438)tCt>tTt	p.S146F	MS4A12_ENST00000537076.1_Missense_Mutation_p.S100F	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	146						integral component of membrane (GO:0016021)		p.S146C(1)		breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						GGCTCTCTCTCTGTGTCAGCA	0.388																																						uc001npr.2		NA																	1	Substitution - Missense(1)		breast(1)		0						c.(436-438)TCT>TTT		membrane-spanning 4-domains, subfamily A, member							228.0	219.0	222.0					11																	60269478		2203	4300	6503	SO:0001583	missense	54860					integral to membrane	receptor activity	g.chr11:60269478C>T	AK000224	CCDS7988.1, CCDS53638.1	11q12	2008-03-25				ENSG00000071203			13370	protein-coding gene	gene with protein product		606550				11401424, 11486273	Standard	NM_017716		Approved	Ms4a10, FLJ20217	uc001npr.3	Q9NXJ0		ENST00000016913.4:c.437C>T	11.37:g.60269478C>T	ENSP00000016913:p.Ser146Phe						p.S146F	NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN			4	494	+			146			Cytoplasmic (Potential).		F5GX98|Q8N6L4	Missense_Mutation	SNP	ENST00000016913.4	37	c.437C>T	CCDS7988.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.371582	0.42003	.	.	ENSG00000071203	ENST00000537076;ENST00000526784;ENST00000016913	T;T;T	0.02890	4.12;4.12;4.12	5.21	2.21	0.28008	.	0.550372	0.18506	N	0.139220	T	0.11537	0.0281	M	0.83223	2.63	0.09310	N	1	D	0.54772	0.968	P	0.59288	0.855	T	0.03555	-1.1025	10	0.87932	D	0	.	8.9155	0.35579	0.1596:0.5321:0.3083:0.0	.	146	Q9NXJ0	M4A12_HUMAN	F	100;100;146	ENSP00000440424:S100F;ENSP00000431959:S100F;ENSP00000016913:S146F	ENSP00000016913:S146F	S	+	2	0	MS4A12	60026054	0.025000	0.19082	0.000000	0.03702	0.001000	0.01503	0.710000	0.25748	0.248000	0.21435	-0.175000	0.13238	TCT		0.388	MS4A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383627.1			19	103	0	0	0	0	19	103				
AHNAK	79026	broad.mit.edu	37	11	62297865	62297865	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:62297865C>A	ENST00000378024.4	-	5	4298	c.4024G>T	c.(4024-4026)Gat>Tat	p.D1342Y	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1342					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AAGGACACATCCACATCTCCC	0.478																																						uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(4024-4026)GAT>TAT		AHNAK nucleoprotein isoform 1							222.0	216.0	218.0					11																	62297865		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62297865C>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.4024G>T	11.37:g.62297865C>A	ENSP00000367263:p.Asp1342Tyr					AHNAK_uc001ntk.1_Intron	p.D1342Y	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	4324	-		Melanoma(852;0.155)	1342					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.4024G>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485890	0.63962	.	.	ENSG00000124942	ENST00000378024	T	0.03441	3.93	4.66	4.66	0.58398	.	0.000000	0.32687	U	0.005762	T	0.30665	0.0772	H	0.97491	4.015	0.36659	D	0.877861	D	0.89917	1.0	D	0.79108	0.992	T	0.60058	-0.7337	10	0.72032	D	0.01	.	15.741	0.77894	0.0:1.0:0.0:0.0	.	1342	Q09666	AHNK_HUMAN	Y	1342	ENSP00000367263:D1342Y	ENSP00000367263:D1342Y	D	-	1	0	AHNAK	62054441	0.867000	0.29959	0.870000	0.34147	0.101000	0.19017	1.854000	0.39368	2.309000	0.77851	0.645000	0.84053	GAT		0.478	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		55	233	1	0	5.39e-20	7.97e-20	55	233				
CFL1	1072	broad.mit.edu	37	11	65623195	65623195	+	Silent	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:65623195G>T	ENST00000525451.2	-	4	1033	c.318C>A	c.(316-318)ccC>ccA	p.P106P	CFL1_ENST00000534769.1_Silent_p.P144P|CFL1_ENST00000527344.1_Silent_p.P89P|CFL1_ENST00000531413.1_Silent_p.P89P|CFL1_ENST00000524553.1_Silent_p.P89P|CFL1_ENST00000531407.1_Silent_p.P89P|CFL1_ENST00000308162.5_Silent_p.P106P			P23528	COF1_HUMAN	cofilin 1 (non-muscle)	106	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin cytoskeleton organization (GO:0030036)|actin filament depolymerization (GO:0030042)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytoskeleton organization (GO:0007010)|establishment of cell polarity (GO:0030010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|mitotic cytokinesis (GO:0000281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell size (GO:0045792)|neural crest cell migration (GO:0001755)|neural fold formation (GO:0001842)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of actin filament depolymerization (GO:0030836)|protein import into nucleus (GO:0006606)|protein phosphorylation (GO:0006468)|regulation of cell morphogenesis (GO:0022604)|response to amino acid (GO:0043200)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				breast(1)|kidney(1)|large_intestine(2)|lung(2)	6				READ - Rectum adenocarcinoma(159;0.169)		GCGCAGACTCGGGGGCCCTGG	0.547																																					Esophageal Squamous(90;820 1366 3932 32351 42291)	uc001ofs.2		NA																	0					0						c.(316-318)CCC>CCA		cofilin 1 (non-muscle)							41.0	39.0	40.0					11																	65623195		2201	4297	6498	SO:0001819	synonymous_variant	1072				actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction	cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr11:65623195G>T	X95404	CCDS8114.1	11q13.1	2010-12-03			ENSG00000172757	ENSG00000172757			1874	protein-coding gene	gene with protein product		601442		CFL		8800436	Standard	NM_005507		Approved		uc001ofs.3	P23528		ENST00000525451.2:c.318C>A	11.37:g.65623195G>T						CFL1_uc001oft.2_Silent_p.P106P|CFL1_uc001ofu.2_3'UTR	p.P106P	NM_005507	NP_005498	P23528	COF1_HUMAN		READ - Rectum adenocarcinoma(159;0.169)	3	552	-			106			ADF-H.		B3KUQ1|Q53Y87|Q9UCA2	Silent	SNP	ENST00000525451.2	37	c.318C>A	CCDS8114.1																																																																																				0.547	CFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390701.3	NM_005507		6	33	1	0	0.00198382	0.00221492	6	33				
EFEMP2	30008	broad.mit.edu	37	11	65634509	65634509	+	Silent	SNP	C	C	A	rs148302546	byFrequency	TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:65634509C>A	ENST00000307998.6	-	11	1442	c.1212G>T	c.(1210-1212)ccG>ccT	p.P404P	MUS81_ENST00000525006.1_Intron|EFEMP2_ENST00000528176.1_Intron|EFEMP2_ENST00000532648.1_5'UTR	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	404					blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GGCCCGTCACCGGCCGGGCGA	0.612																																						uc001ofy.3		NA																	0				ovary(1)	1						c.(1210-1212)CCG>CCT		EGF-containing fibulin-like extracellular matrix							65.0	64.0	64.0					11																	65634509		2201	4296	6497	SO:0001819	synonymous_variant	30008				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity	g.chr11:65634509C>A	AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"""Fibulins"""	3219	protein-coding gene	gene with protein product	"""fibulin 4"""	604633	"""EGF-containing fibulin-like extracellular matrix protein 2"""			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.1212G>T	11.37:g.65634509C>A						EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Intron	p.P404P	NM_016938	NP_058634	O95967	FBLN4_HUMAN		READ - Rectum adenocarcinoma(159;0.169)	11	1406	-			404					A8K7R4|B3KM31|B3KQT1|O75967	Silent	SNP	ENST00000307998.6	37	c.1212G>T	CCDS8116.1																																																																																				0.612	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4	NM_016938		17	62	1	0	1.16e-05	1.42e-05	17	62				
RBM4	5936	broad.mit.edu	37	11	66411238	66411238	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:66411238T>C	ENST00000409406.1	+	2	1507	c.730T>C	c.(730-732)Tac>Cac	p.Y244H	RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000408993.2_Missense_Mutation_p.Y244H|RBM4_ENST00000310092.7_Missense_Mutation_p.Y244H|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Missense_Mutation_p.Y219H|RBM14-RBM4_ENST00000412278.2_Missense_Mutation_p.Y219H|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000503028.2_Missense_Mutation_p.Y244H			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	244	Interaction with TNPO3.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		CGTGTATAATTACGCAGAGCA	0.577																																						uc009yrj.2		NA																	0				ovary(1)	1						c.(730-732)TAC>CAC		RNA binding motif protein 4							40.0	46.0	44.0					11																	66411238		2053	4215	6268	SO:0001583	missense	5936				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade	nuclear speck|nucleolus|stress granule	miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding	g.chr11:66411238T>C	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.730T>C	11.37:g.66411238T>C	ENSP00000386894:p.Tyr244His					RBM4_uc009yrk.2_Missense_Mutation_p.Y219H|RBM4_uc001oiw.1_Missense_Mutation_p.Y244H|RBM4_uc001oix.1_Intron|RBM4_uc010rpj.1_Intron|RBM4_uc001oiy.1_Missense_Mutation_p.Y244H|RBM4_uc001oiz.1_Missense_Mutation_p.Y244H	p.Y244H	NM_002896	NP_002887	Q9BWF3	RBM4_HUMAN		Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)	3	1218	+			244			Interaction with TNPO3.		B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	Missense_Mutation	SNP	ENST00000409406.1	37	c.730T>C	CCDS41676.1	.	.	.	.	.	.	.	.	.	.	T	16.98	3.270729	0.59540	.	.	ENSG00000248643;ENSG00000248643;ENSG00000248643;ENSG00000173933;ENSG00000173933;ENSG00000173933	ENST00000412278;ENST00000503028;ENST00000514361;ENST00000310092;ENST00000408993;ENST00000409406	T;T;T;T;T	0.49720	0.77;1.66;1.66;1.66;1.66	6.06	6.06	0.98353	.	0.389893	0.23746	U	0.044973	T	0.60418	0.2267	L	0.59436	1.845	0.31297	N	0.688734	D;P	0.69078	0.997;0.93	P;P	0.60789	0.879;0.459	T	0.62950	-0.6745	10	0.26408	T	0.33	-4.4147	14.5614	0.68140	0.0:0.0:0.0:1.0	.	219;244	B0LM41;Q9BWF3	.;RBM4_HUMAN	H	219;244;244;244;244;244	ENSP00000388552:Y219H;ENSP00000425760:Y244H;ENSP00000309166:Y244H;ENSP00000386561:Y244H;ENSP00000386894:Y244H	ENSP00000388552:Y219H	Y	+	1	0	RBM4;RBM14-RBM4	66167814	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.050000	0.49877	2.324000	0.78689	0.533000	0.62120	TAC		0.577	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	NM_002896		19	74	0	0	0	0	19	74				
DDIAS	220042	broad.mit.edu	37	11	82644765	82644765	+	Silent	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:82644765T>A	ENST00000533655.1	+	6	2597	c.2385T>A	c.(2383-2385)ccT>ccA	p.P795P	C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000430323.2_Silent_p.P795P|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000329143.3_Silent_p.P494P	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		795			P -> R (in dbSNP:rs11826199).		apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						TCAAAAAACCTGTATTTTATT	0.343																																						uc001ozt.2		NA																	0				ovary(2)	2						c.(2383-2385)CCT>CCA		nitric oxide-inducible gene protein							35.0	36.0	36.0					11																	82644765		2198	4299	6497	SO:0001819	synonymous_variant	220042				apoptosis|cell cycle arrest	cytoplasm|nucleus		g.chr11:82644765T>A																												ENST00000533655.1:c.2385T>A	11.37:g.82644765T>A						C11orf82_uc010rsr.1_Silent_p.P494P|C11orf82_uc010rss.1_Silent_p.P494P|C11orf82_uc009yvd.2_Intron	p.P795P	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN			6	2629	+			795					Q96LK6|Q9H856	Silent	SNP	ENST00000533655.1	37	c.2385T>A	CCDS8263.1																																																																																				0.343	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1			9	33	0	0	0	0	9	33				
USP28	57646	broad.mit.edu	37	11	113683178	113683178	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:113683178C>A	ENST00000003302.4	-	16	1860	c.1792G>T	c.(1792-1794)Gct>Tct	p.A598S	USP28_ENST00000260188.5_Missense_Mutation_p.A598S|USP28_ENST00000545540.1_Missense_Mutation_p.A473S|USP28_ENST00000544967.1_Missense_Mutation_p.A306S	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	598	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TAGTGTCCAGCATTTGCTTGT	0.433																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	uc001poh.2		NA																	0				lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7						c.(1792-1794)GCT>TCT		ubiquitin specific protease 28							129.0	132.0	131.0					11																	113683178		2201	4296	6497	SO:0001583	missense	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113683178C>A	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1792G>T	11.37:g.113683178C>A	ENSP00000003302:p.Ala598Ser					USP28_uc001pog.2_Missense_Mutation_p.A306S|USP28_uc010rwy.1_Missense_Mutation_p.A473S|USP28_uc001poi.2_Intron	p.A598S	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	16	1825	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	598					B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	c.1792G>T	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	C	33	5.261359	0.95368	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540;ENST00000538475	T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67	5.38	5.38	0.77491	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.47600	0.1454	L	0.41632	1.29	0.80722	D	1	D;D;D	0.76494	0.999;0.994;0.998	D;D;D	0.71870	0.975;0.955;0.957	T	0.24657	-1.0154	10	0.33940	T	0.23	-17.2229	19.1336	0.93417	0.0:1.0:0.0:0.0	.	473;598;306	B4E3L3;Q96RU2;G3V1N5	.;UBP28_HUMAN;.	S	598;598;306;473;302	ENSP00000003302:A598S;ENSP00000260188:A598S;ENSP00000442431:A306S;ENSP00000444991:A473S;ENSP00000442257:A302S	ENSP00000003302:A598S	A	-	1	0	USP28	113188388	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	5.768000	0.68858	2.504000	0.84457	0.655000	0.94253	GCT		0.433	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			25	86	1	0	4.06e-26	6.09e-26	25	86				
ADAMTS15	170689	broad.mit.edu	37	11	130319057	130319057	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:130319057C>T	ENST00000299164.2	+	1	189	c.189C>T	c.(187-189)gaC>gaT	p.D63D		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	63						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		TTCAGGAGGACTTTTACCTAC	0.612																																						uc010scd.1		NA																	0				large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5						c.(187-189)GAC>GAT		a disintegrin-like and metalloprotease							71.0	77.0	75.0					11																	130319057		2201	4297	6498	SO:0001819	synonymous_variant	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130319057C>T	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.189C>T	11.37:g.130319057C>T							p.D63D	NM_139055	NP_620686	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	1	189	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	63					Q32MI6	Silent	SNP	ENST00000299164.2	37	c.189C>T	CCDS8488.1																																																																																				0.612	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		11	90	0	0	0	0	11	90				
SPATA19	219938	broad.mit.edu	37	11	133715038	133715038	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr11:133715038C>A	ENST00000299140.3	-	2	180	c.126G>T	c.(124-126)tgG>tgT	p.W42C	SPATA19_ENST00000532889.1_Missense_Mutation_p.W42C	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	42					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	mitochondrial outer membrane (GO:0005741)				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		CTTTTTTCAACCAATGATGTA	0.423																																						uc001qgv.1		NA																	0					0						c.(124-126)TGG>TGT		spermatogenesis associated 19 precursor							170.0	160.0	163.0					11																	133715038		2201	4297	6498	SO:0001583	missense	219938				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane		g.chr11:133715038C>A	AK098717	CCDS8493.1	11q25	2010-04-23				ENSG00000166118			30614	protein-coding gene	gene with protein product	"""spergen 1"", ""cancer/testis antigen 132"""	609805				12477932	Standard	XM_005271448		Approved	FLJ25851, spergen1, SPAS1, CT132	uc001qgv.1	Q7Z5L4		ENST00000299140.3:c.126G>T	11.37:g.133715038C>A	ENSP00000299140:p.Trp42Cys						p.W42C	NM_174927	NP_777587	Q7Z5L4	SPT19_HUMAN		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)	2	177	-	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)	42					Q8N7A9	Missense_Mutation	SNP	ENST00000299140.3	37	c.126G>T	CCDS8493.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.247637	0.59103	.	.	ENSG00000166118	ENST00000299140;ENST00000532889	T;T	0.59502	0.26;0.26	5.33	5.33	0.75918	.	0.000000	0.53938	D	0.000047	T	0.66616	0.2807	L	0.34521	1.04	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.69540	-0.5118	10	0.87932	D	0	-14.6493	14.4907	0.67649	0.0:1.0:0.0:0.0	.	42	Q7Z5L4	SPT19_HUMAN	C	42	ENSP00000299140:W42C;ENSP00000435248:W42C	ENSP00000299140:W42C	W	-	3	0	SPATA19	133220248	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.724000	0.54962	2.500000	0.84329	0.563000	0.77884	TGG		0.423	SPATA19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393281.1	NM_174927		6	36	1	0	3.6e-05	4.35e-05	6	36				
SLC6A13	6540	broad.mit.edu	37	12	333259	333259	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:333259C>T	ENST00000343164.4	-	11	1262	c.1210G>A	c.(1210-1212)Gac>Aac	p.D404N	SLC6A13_ENST00000539668.1_5'UTR|SLC6A13_ENST00000445055.2_Missense_Mutation_p.D312N	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	404					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GGGTACATGTCCACCAGCGCT	0.557																																						uc001qic.1		NA																	0					0						c.(1210-1212)GAC>AAC		solute carrier family 6 (neurotransmitter							115.0	96.0	102.0					12																	333259		2203	4300	6503	SO:0001583	missense	6540				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:333259C>T	U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.1210G>A	12.37:g.333259C>T	ENSP00000339260:p.Asp404Asn					SLC6A13_uc009zdj.1_Missense_Mutation_p.D394N|SLC6A13_uc010sdl.1_Missense_Mutation_p.D312N	p.D404N	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		11	1263	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		404					B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	ENST00000343164.4	37	c.1210G>A	CCDS8502.1	.	.	.	.	.	.	.	.	.	.	C	36	5.609765	0.96637	.	.	ENSG00000010379	ENST00000445055;ENST00000313154;ENST00000343164	D;D	0.84442	-1.85;-1.85	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.96219	0.8767	H	0.99156	4.45	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	0.97967	1.0341	10	0.87932	D	0	.	19.3766	0.94512	0.0:1.0:0.0:0.0	.	312;383;404	B4DJL1;B4DJS3;Q9NSD5	.;.;S6A13_HUMAN	N	312;383;404	ENSP00000407104:D312N;ENSP00000339260:D404N	ENSP00000318097:D383N	D	-	1	0	SLC6A13	203520	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.818000	0.86416	2.596000	0.87737	0.491000	0.48974	GAC		0.557	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615		6	40	0	0	0	0	6	40				
LPAR5	57121	broad.mit.edu	37	12	6729716	6729716	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:6729716C>T	ENST00000329858.4	-	2	1455	c.699G>A	c.(697-699)gtG>gtA	p.V233V	LPAR5_ENST00000540335.1_5'UTR|LPAR5_ENST00000431922.1_Silent_p.V233V	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						GCAGGAGGCGCACGGTCTTCC	0.697																																					NSCLC(74;891 2312 37538)	uc009zer.2		NA																	0				ovary(1)|skin(1)	2						c.(697-699)GTG>GTA		lysophosphatidic acid receptor 5							9.0	6.0	7.0					12																	6729716		2104	4083	6187	SO:0001819	synonymous_variant	57121					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr12:6729716C>T	AJ272207	CCDS8553.1	12p13.31	2012-08-08	2008-04-11	2008-04-11		ENSG00000184574		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	13307	protein-coding gene	gene with protein product		606926	"""G protein-coupled receptor 92"""	GPR93, GPR92		11062477, 11574155, 16774927, 16651401	Standard	NM_020400		Approved	KPG_010, LPA5	uc009zer.2	Q9H1C0		ENST00000329858.4:c.699G>A	12.37:g.6729716C>T						LPAR5_uc001qps.2_Silent_p.V233V|LPAR5_uc010sff.1_Silent_p.V233V	p.V233V	NM_001142961	NP_001136433	Q9H1C0	LPAR5_HUMAN			2	980	-			233			Cytoplasmic (Potential).			Silent	SNP	ENST00000329858.4	37	c.699G>A	CCDS8553.1																																																																																				0.697	LPAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400699.1	NM_020400		4	5	0	0	0	0	4	5				
FOXJ2	55810	broad.mit.edu	37	12	8192621	8192621	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:8192621G>T	ENST00000162391.3	+	2	1338	c.193G>T	c.(193-195)Ggc>Tgc	p.G65C	FOXJ2_ENST00000428177.2_Missense_Mutation_p.G65C	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	65					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|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)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		GCACCAGGACGGCAAGCCACG	0.582																																						uc001qtu.2		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5						c.(193-195)GGC>TGC		forkhead box J2							217.0	146.0	170.0					12																	8192621		2203	4300	6503	SO:0001583	missense	55810				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr12:8192621G>T	AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"""Forkhead boxes"""	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.193G>T	12.37:g.8192621G>T	ENSP00000162391:p.Gly65Cys					FOXJ2_uc001qtt.1_Missense_Mutation_p.G65C	p.G65C	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN		Kidney(36;0.0944)	2	1278	+			65					A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP	ENST00000162391.3	37	c.193G>T	CCDS8587.1	.	.	.	.	.	.	.	.	.	.	g	25.8	4.678925	0.88542	.	.	ENSG00000065970	ENST00000162391;ENST00000428177	D;D	0.95137	-3.44;-3.62	5.14	5.14	0.70334	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (1);	0.000000	0.64402	D	0.000005	D	0.95335	0.8486	L	0.32530	0.975	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	D	0.95779	0.8815	10	0.59425	D	0.04	.	16.1906	0.81987	0.0:0.0:1.0:0.0	.	65;65	Q9P0K8;Q9P0K8-2	FOXJ2_HUMAN;.	C	65	ENSP00000162391:G65C;ENSP00000403411:G65C	ENSP00000162391:G65C	G	+	1	0	FOXJ2	8083888	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.448000	0.97600	2.411000	0.81874	0.555000	0.69702	GGC		0.582	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416		18	73	1	0	1.78e-19	2.63e-19	18	73				
PRB2	653247	broad.mit.edu	37	12	11546523	11546523	+	Silent	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:11546523G>T	ENST00000389362.4	-	3	524	c.489C>A	c.(487-489)ccC>ccA	p.P163P	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	163	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTCCTTGTGGGGGTGGTCCTT	0.602																																						uc010shk.1		NA																	0					0						c.(487-489)CCC>CCA		proline-rich protein BstNI subfamily 2																																				SO:0001819	synonymous_variant	653247							g.chr12:11546523G>T	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.489C>A	12.37:g.11546523G>T							p.P163P	NM_006248	NP_006239			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	524	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	Silent	SNP	ENST00000389362.4	37	c.489C>A	CCDS41757.2																																																																																				0.602	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		79	649	1	0	6.17e-39	9.32e-39	79	649				
ABCC9	10060	broad.mit.edu	37	12	21991070	21991070	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:21991070G>A	ENST00000261201.4	-	28	3507	c.3508C>T	c.(3508-3510)Cct>Tct	p.P1170S	ABCC9_ENST00000261200.4_Missense_Mutation_p.P1170S|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.P1134S	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1170	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CAGAGCAGAGGGAGCTGGGTA	0.443																																						uc001rfi.1		NA																	0				ovary(4)|skin(2)	6						c.(3508-3510)CCT>TCT		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						124.0	121.0	122.0					12																	21991070		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21991070G>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3508C>T	12.37:g.21991070G>A	ENSP00000261201:p.Pro1170Ser					ABCC9_uc001rfh.2_Missense_Mutation_p.P1170S|ABCC9_uc001rfj.1_Missense_Mutation_p.P1134S	p.P1170S	NM_005691	NP_005682	O60706	ABCC9_HUMAN			28	3528	-			1170			Extracellular (Potential).|ABC transmembrane type-1 2.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.3508C>T	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.931156	0.92389	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.89681	-2.55;-2.55;-2.55;-2.55	5.31	5.31	0.75309	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96015	0.8702	M	0.93106	3.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96576	0.9427	10	0.87932	D	0	-16.824	19.1802	0.93620	0.0:0.0:1.0:0.0	.	1170;1170	O60706;O60706-2	ABCC9_HUMAN;.	S	1170;797;1170;1134	ENSP00000261200:P1170S;ENSP00000440521:P797S;ENSP00000261201:P1170S;ENSP00000261202:P1134S	ENSP00000261200:P1170S	P	-	1	0	ABCC9	21882337	1.000000	0.71417	0.997000	0.53966	0.914000	0.54420	9.640000	0.98453	2.748000	0.94277	0.650000	0.86243	CCT		0.443	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		23	70	0	0	0	0	23	70				
LRRK2	120892	broad.mit.edu	37	12	40668693	40668693	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:40668693G>T	ENST00000298910.7	+	16	1897	c.1839G>T	c.(1837-1839)ttG>ttT	p.L613F	LRRK2_ENST00000343742.2_Missense_Mutation_p.L613F	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	613					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TAGGATACTTGATTACAAAGA	0.308																																						uc001rmg.3		NA																	0				ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(1837-1839)TTG>TTT		leucine-rich repeat kinase 2							79.0	81.0	80.0					12																	40668693		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40668693G>T	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.1839G>T	12.37:g.40668693G>T	ENSP00000298910:p.Leu613Phe					LRRK2_uc001rmh.1_Missense_Mutation_p.L235F	p.L613F	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			16	1960	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	613					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.1839G>T	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719352	0.68844	.	.	ENSG00000188906	ENST00000416796;ENST00000343742;ENST00000298910	T;T;T	0.72505	-0.66;0.51;0.51	5.63	4.72	0.59763	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.82066	0.4956	M	0.61703	1.905	0.45594	D	0.998538	D;D	0.89917	1.0;1.0	D;D	0.77004	0.982;0.989	D	0.84292	0.0500	10	0.72032	D	0.01	.	16.0115	0.80406	0.0:0.0:0.8643:0.1357	.	613;613	E9PC85;Q5S007	.;LRRK2_HUMAN	F	361;613;613	ENSP00000398726:L361F;ENSP00000341930:L613F;ENSP00000298910:L613F	ENSP00000298910:L613F	L	+	3	2	LRRK2	38954960	1.000000	0.71417	0.962000	0.40283	0.986000	0.74619	2.864000	0.48404	1.471000	0.48121	0.555000	0.69702	TTG		0.308	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		4	42	1	0	2.56e-06	3.19e-06	4	42				
LRRK2	120892	broad.mit.edu	37	12	40740560	40740560	+	Missense_Mutation	SNP	C	C	T	rs200765656		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:40740560C>T	ENST00000298910.7	+	42	6173	c.6115C>T	c.(6115-6117)Cgt>Tgt	p.R2039C		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2039	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTCAGGGTTTCGTGCACCTGA	0.383																																						uc001rmg.3		NA																	0				ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(6115-6117)CGT>TGT		leucine-rich repeat kinase 2							79.0	69.0	72.0					12																	40740560		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40740560C>T	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.6115C>T	12.37:g.40740560C>T	ENSP00000298910:p.Arg2039Cys					LRRK2_uc009zjw.2_Missense_Mutation_p.R877C|LRRK2_uc001rmi.2_Missense_Mutation_p.R872C	p.R2039C	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			42	6236	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	2039			Protein kinase.		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.6115C>T	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.152752	0.78001	.	.	ENSG00000188906	ENST00000298910	D	0.93811	-3.29	5.6	5.6	0.85130	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93171	0.7825	N	0.16201	0.385	0.80722	D	1	D;D	0.89917	0.993;1.0	D;D	0.83275	0.918;0.996	D	0.94338	0.7568	10	0.87932	D	0	.	15.3129	0.74048	0.1404:0.8596:0.0:0.0	.	2039;2039	Q17RV3;Q5S007	.;LRRK2_HUMAN	C	2039	ENSP00000298910:R2039C	ENSP00000298910:R2039C	R	+	1	0	LRRK2	39026827	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.744000	0.55112	2.659000	0.90383	0.644000	0.83932	CGT		0.383	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		4	26	0	0	0	0	4	26				
KMT2D	8085	broad.mit.edu	37	12	49424105	49424105	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:49424105T>A	ENST00000301067.7	-	42	13956	c.13957A>T	c.(13957-13959)Aag>Tag	p.K4653*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4653					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GCAGCATCCTTGGGGTGCTCC	0.622																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(13957-13959)AAG>TAG		myeloid/lymphoid or mixed-lineage leukemia 2							22.0	23.0	23.0					12																	49424105		1912	4132	6044	SO:0001587	stop_gained	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49424105T>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.13957A>T	12.37:g.49424105T>A	ENSP00000301067:p.Lys4653*	HNSCC(34;0.089)					p.K4653*	NM_003482	NP_003473	O14686	MLL2_HUMAN			42	13957	-			4653					O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.13957A>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	T	54	22.427164	0.99948	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.58	5.58	0.84498	.	0.000000	0.40385	N	0.001102	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.5892	0.61951	0.0:0.0:0.0:1.0	.	.	.	.	X	4653	.	ENSP00000301067:K4653X	K	-	1	0	MLL2	47710372	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.207000	0.72159	2.269000	0.75478	0.533000	0.62120	AAG		0.622	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			5	10	0	0	0	0	5	10				
AQP6	363	broad.mit.edu	37	12	50367220	50367220	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:50367220C>T	ENST00000315520.5	+	1	601	c.264C>T	c.(262-264)gcC>gcT	p.A88A	AQP6_ENST00000551733.1_Intron	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	88					anion transport (GO:0006820)|excretion (GO:0007588)|odontogenesis (GO:0042476)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	integral component of plasma membrane (GO:0005887)|transport vesicle membrane (GO:0030658)	anion channel activity (GO:0005253)|water channel activity (GO:0015250)			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						TGACGCTGGCCTTCCTCGTAG	0.657																																						uc001rvr.1		NA																	0					0						c.(262-264)GCC>GCT		aquaporin 6							49.0	50.0	50.0					12																	50367220		2202	4299	6501	SO:0001819	synonymous_variant	363				excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity	g.chr12:50367220C>T	AL137716	CCDS31798.1	12q13	2005-09-20			ENSG00000086159	ENSG00000086159		"""Ion channels / Aquaporins"""	639	protein-coding gene	gene with protein product		601383		AQP2L		8812490	Standard	XM_006719375		Approved		uc001rvr.1	Q13520	OTTHUMG00000133548	ENST00000315520.5:c.264C>T	12.37:g.50367220C>T						AQP6_uc001rvp.1_Intron|AQP6_uc001rvq.1_RNA	p.A88A	NM_001652	NP_001643	Q13520	AQP6_HUMAN			1	601	+			88			Cytoplasmic (Potential).			Silent	SNP	ENST00000315520.5	37	c.264C>T	CCDS31798.1																																																																																				0.657	AQP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257528.2	NM_001652, NM_053286		15	82	0	0	0	0	15	82				
LIMA1	51474	broad.mit.edu	37	12	50594639	50594639	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:50594639A>G	ENST00000341247.4	-	7	1042	c.893T>C	c.(892-894)aTc>aCc	p.I298T	LIMA1_ENST00000552008.1_5'UTR|LIMA1_ENST00000547825.1_5'UTR|LIMA1_ENST00000552823.1_Missense_Mutation_p.I138T|LIMA1_ENST00000552783.1_Missense_Mutation_p.I138T|LIMA1_ENST00000552909.1_Missense_Mutation_p.I138T|LIMA1_ENST00000552491.1_5'Flank|LIMA1_ENST00000394943.3_Missense_Mutation_p.I298T	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	298					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						ATGAATTTTGATTTCGCCACC	0.388																																						uc001rwj.3		NA																	0				ovary(1)	1						c.(892-894)ATC>ACC		LIM domain and actin binding 1 isoform b							199.0	199.0	199.0					12																	50594639		2203	4300	6503	SO:0001583	missense	51474				actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	g.chr12:50594639A>G	AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.893T>C	12.37:g.50594639A>G	ENSP00000340184:p.Ile298Thr					LIMA1_uc001rwg.3_5'UTR|LIMA1_uc001rwh.3_Missense_Mutation_p.I138T|LIMA1_uc001rwi.3_Missense_Mutation_p.I138T|LIMA1_uc001rwk.3_Missense_Mutation_p.I298T|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA	p.I298T	NM_016357	NP_057441	Q9UHB6	LIMA1_HUMAN			7	1067	-			298					B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	ENST00000341247.4	37	c.893T>C	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	A	3.670	-0.067756	0.07228	.	.	ENSG00000050405	ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	T;D;T;T;T	0.84223	-1.4;-1.82;-1.08;-1.4;-1.4	5.44	3.03	0.35002	.	0.574575	0.18404	N	0.142280	T	0.77711	0.4171	L	0.60455	1.87	0.23913	N	0.996489	P;P;B	0.39282	0.483;0.666;0.026	B;B;B	0.33339	0.122;0.162;0.029	T	0.66586	-0.5886	9	.	.	.	.	6.3097	0.21159	0.5168:0.3332:0.0:0.15	.	307;298;138	Q59FE8;Q9UHB6;F8VQE1	.;LIMA1_HUMAN;.	T	138;298;298;138;138;217	ENSP00000450266:I138T;ENSP00000378400:I298T;ENSP00000340184:I298T;ENSP00000448779:I138T;ENSP00000450087:I138T	.	I	-	2	0	LIMA1	48880906	1.000000	0.71417	0.999000	0.59377	0.006000	0.05464	3.288000	0.51739	0.476000	0.27440	-0.323000	0.08544	ATC		0.388	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357		56	243	0	0	0	0	56	243				
OR10A7	121364	broad.mit.edu	37	12	55615641	55615641	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:55615641A>G	ENST00000326258.1	+	1	833	c.833A>G	c.(832-834)tAc>tGc	p.Y278C		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TCATTGTCCTACACTGTCATC	0.493																																						uc010spf.1		NA																	0				ovary(4)	4						c.(832-834)TAC>TGC		olfactory receptor, family 10, subfamily A,							91.0	80.0	84.0					12																	55615641		2203	4300	6503	SO:0001583	missense	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55615641A>G	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"""GPCR / Class A : Olfactory receptors"""	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.833A>G	12.37:g.55615641A>G	ENSP00000326718:p.Tyr278Cys						p.Y278C	NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN			1	833	+			278			Helical; Name=7; (Potential).		Q6IFD5|Q96R19	Missense_Mutation	SNP	ENST00000326258.1	37	c.833A>G	CCDS31815.1	.	.	.	.	.	.	.	.	.	.	a	14.78	2.636278	0.47049	.	.	ENSG00000179919	ENST00000326258	T	0.00318	8.12	4.08	4.08	0.47627	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37669	N	0.001988	T	0.00936	0.0031	M	0.93763	3.455	0.09310	N	0.999996	D	0.89917	1.0	D	0.97110	1.0	T	0.14699	-1.0463	10	0.72032	D	0.01	.	13.1849	0.59675	1.0:0.0:0.0:0.0	.	278	Q8NGE5	O10A7_HUMAN	C	278	ENSP00000326718:Y278C	ENSP00000326718:Y278C	Y	+	2	0	OR10A7	53901908	0.132000	0.22450	0.510000	0.27712	0.966000	0.64601	2.849000	0.48286	1.853000	0.53794	0.519000	0.50382	TAC		0.493	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			19	54	0	0	0	0	19	54				
RNF41	10193	broad.mit.edu	37	12	56600268	56600268	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:56600268A>C	ENST00000345093.4	-	7	1286	c.917T>G	c.(916-918)cTt>cGt	p.L306R	RNF41_ENST00000394013.2_Missense_Mutation_p.L235R|RNF41_ENST00000552656.1_Missense_Mutation_p.L306R	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41, E3 ubiquitin protein ligase	306					extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|proteasomal protein catabolic process (GO:0010498)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|regulation of establishment of cell polarity (GO:2000114)|regulation of lymphocyte differentiation (GO:0045619)|regulation of MAPK cascade (GO:0043408)|regulation of myeloid cell differentiation (GO:0045637)|regulation of protein kinase B signaling (GO:0051896)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytosol (GO:0005829)	acid-amino acid ligase activity (GO:0016881)|protein tag (GO:0031386)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						TATCATGACAAGGCCTGGCTC	0.527											OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001skf.1		NA																	0				skin(1)	1						c.(916-918)CTT>CGT		ring finger protein 41 isoform 1							204.0	185.0	191.0					12																	56600268		2203	4300	6503	SO:0001583	missense	10193				apoptosis|induction of apoptosis|protein polyubiquitination|regulation of reactive oxygen species metabolic process		protein binding|protein tag|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:56600268A>C	AF077599	CCDS8909.1, CCDS8910.1	12q13.13	2014-03-24	2014-03-24		ENSG00000181852	ENSG00000181852		"""RING-type (C3HC4) zinc fingers"""	18401	protein-coding gene	gene with protein product			"""ring finger protein 41"""				Standard	NM_005785		Approved	SBBI03, NRDP1	uc001skg.2	Q9H4P4	OTTHUMG00000170328	ENST00000345093.4:c.917T>G	12.37:g.56600268A>C	ENSP00000342755:p.Leu306Arg		OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1016	RNF41_uc001ske.1_Missense_Mutation_p.L235R|RNF41_uc001skg.1_Missense_Mutation_p.L306R|RNF41_uc010sqg.1_Missense_Mutation_p.L241R|RNF41_uc010sqh.1_Missense_Mutation_p.L235R	p.L306R	NM_005785	NP_005776	Q9H4P4	RNF41_HUMAN			7	1286	-			306					A6NFW0|B2RBT8|O75598	Missense_Mutation	SNP	ENST00000345093.4	37	c.917T>G	CCDS8909.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.517665	0.85495	.	.	ENSG00000181852	ENST00000345093;ENST00000394013;ENST00000448057;ENST00000552656	T;T	0.14391	2.51;2.51	5.21	5.21	0.72293	USP8 interacting (1);	0.000000	0.85682	D	0.000000	T	0.32645	0.0836	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75484	0.944;0.986	T	0.02991	-1.1085	10	0.87932	D	0	.	14.3877	0.66956	1.0:0.0:0.0:0.0	.	293;306	B4E353;Q9H4P4	.;RNF41_HUMAN	R	306;235;293;306	ENSP00000342755:L306R;ENSP00000447303:L306R	ENSP00000342755:L306R	L	-	2	0	RNF41	54886535	1.000000	0.71417	0.943000	0.38184	0.926000	0.56050	7.443000	0.80521	2.107000	0.64212	0.533000	0.62120	CTT		0.527	RNF41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408525.1	NM_005785		46	178	0	0	0	0	46	178				
ALDH1L2	160428	broad.mit.edu	37	12	105446604	105446604	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:105446604G>T	ENST00000258494.9	-	11	1533	c.1393C>A	c.(1393-1395)Cca>Aca	p.P465T	ALDH1L2_ENST00000424857.2_Missense_Mutation_p.P465T	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	465	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						CCATCTGTTGGGTTGATAGTG	0.383											OREG0022073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001tlc.2		NA																	0				skin(1)	1						c.(1393-1395)CCA>ACA		aldehyde dehydrogenase 1 family, member L2							201.0	150.0	168.0					12																	105446604		2203	4300	6503	SO:0001583	missense	160428				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding	g.chr12:105446604G>T	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.1393C>A	12.37:g.105446604G>T	ENSP00000258494:p.Pro465Thr		OREG0022073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1389	ALDH1L2_uc009zuo.2_5'UTR|ALDH1L2_uc009zup.2_RNA	p.P465T	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN			11	1520	-			465			Aldehyde dehydrogenase.		Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	ENST00000258494.9	37	c.1393C>A	CCDS31891.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535872	0.85812	.	.	ENSG00000136010	ENST00000258494;ENST00000424857	T;D	0.87029	0.41;-2.2	5.76	5.76	0.90799	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.96670	0.8913	H	0.98849	4.35	0.80722	D	1	D	0.71674	0.998	D	0.74023	0.982	D	0.97909	1.0307	10	0.87932	D	0	.	19.9813	0.97326	0.0:0.0:1.0:0.0	.	465	Q3SY69	AL1L2_HUMAN	T	465	ENSP00000258494:P465T;ENSP00000389608:P465T	ENSP00000258494:P465T	P	-	1	0	ALDH1L2	103970734	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.731000	0.98807	2.726000	0.93360	0.655000	0.94253	CCA		0.383	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294		9	39	1	0	1.77e-08	2.34e-08	9	39				
NAA25	80018	broad.mit.edu	37	12	112528566	112528566	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:112528566G>C	ENST00000261745.4	-	3	495	c.247C>G	c.(247-249)Cag>Gag	p.Q83E		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	83						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GTCAGTGCCTGCAGTGAGTTG	0.423																																						uc001ttm.2		NA																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(247-249)CAG>GAG		mitochondrial distribution and morphology 20							161.0	143.0	149.0					12																	112528566		2203	4300	6503	SO:0001583	missense	80018					cytoplasm	protein binding	g.chr12:112528566G>C	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.247C>G	12.37:g.112528566G>C	ENSP00000261745:p.Gln83Glu					NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Missense_Mutation_p.Q55E|NAA25_uc009zwa.1_Missense_Mutation_p.Q83E	p.Q83E	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN			3	267	-			83			TPR 3.		A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	ENST00000261745.4	37	c.247C>G	CCDS9159.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.4|22.4	4.283392|4.283392	0.80803|0.80803	.|.	.|.	ENSG00000111300|ENSG00000111300	ENST00000547133|ENST00000261745	.|T	.|0.37411	.|1.2	5.41|5.41	5.41|5.41	0.78517|0.78517	.|Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55768|0.55768	0.1941|0.1941	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	.|D;D	.|0.64830	.|0.994;0.994	.|D;D	.|0.70716	.|0.97;0.97	T|T	0.46569|0.46569	-0.9182|-0.9182	5|10	.|0.12103	.|T	.|0.63	-11.1806|-11.1806	19.2229|19.2229	0.93805|0.93805	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|83;83	.|A8K8X0;Q14CX7	.|.;NAA25_HUMAN	G|E	44|83	.|ENSP00000261745:Q83E	.|ENSP00000261745:Q83E	A|Q	-|-	2|1	0|0	NAA25|NAA25	111012949|111012949	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.996000|0.996000	0.88848|0.88848	9.471000|9.471000	0.97696|0.97696	2.529000|2.529000	0.85273|0.85273	0.650000|0.650000	0.86243|0.86243	GCA|CAG		0.423	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		25	83	0	0	0	0	25	83				
FLT1	2321	broad.mit.edu	37	13	29007977	29007977	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr13:29007977C>T	ENST00000282397.4	-	6	1043	c.792G>A	c.(790-792)atG>atA	p.M264I	FLT1_ENST00000539099.1_Missense_Mutation_p.M264I|FLT1_ENST00000541932.1_Missense_Mutation_p.M264I	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	264	Ig-like C2-type 3.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AACTCCAGGTCATTTGAACTC	0.443																																						uc001usb.3		NA																	0				lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24						c.(790-792)ATG>ATA		fms-related tyrosine kinase 1 isoform 1	Sunitinib(DB01268)						121.0	120.0	120.0					13																	29007977		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:29007977C>T	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.792G>A	13.37:g.29007977C>T	ENSP00000282397:p.Met264Ile					FLT1_uc010aar.1_Missense_Mutation_p.M264I|FLT1_uc001usc.3_Missense_Mutation_p.M264I|FLT1_uc010tdp.1_Missense_Mutation_p.M264I	p.M264I	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	6	1077	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	264			Extracellular (Potential).|Ig-like C2-type 3.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.792G>A	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	4.108	0.018160	0.07959	.	.	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000539099	T;T;T	0.11930	2.73;2.73;2.73	5.24	2.4	0.29515	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.210049	0.48767	N	0.000165	T	0.07818	0.0196	L	0.31926	0.97	0.38166	D	0.939197	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.12156	0.007;0.002;0.002;0.005	T	0.31971	-0.9924	10	0.17369	T	0.5	.	2.5312	0.04703	0.1418:0.4278:0.2751:0.1553	.	264;264;264;264	P17948-4;P17948-3;P17948-2;P17948	.;.;.;VGFR1_HUMAN	I	264	ENSP00000282397:M264I;ENSP00000437631:M264I;ENSP00000442630:M264I	ENSP00000282397:M264I	M	-	3	0	FLT1	27905977	1.000000	0.71417	0.855000	0.33649	0.990000	0.78478	0.941000	0.29005	0.158000	0.19367	0.655000	0.94253	ATG		0.443	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			10	43	0	0	0	0	10	43				
LRCH1	23143	broad.mit.edu	37	13	47279253	47279253	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr13:47279253G>A	ENST00000389798.3	+	12	1648	c.1451G>A	c.(1450-1452)gGa>gAa	p.G484E	LRCH1_ENST00000311191.6_Missense_Mutation_p.G484E|LRCH1_ENST00000389797.3_Missense_Mutation_p.G484E	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	484										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TATCCTATGGGATCAGCAGAA	0.284																																						uc001vbj.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1450-1452)GGA>GAA		leucine-rich repeats and calponin homology (CH)							110.0	122.0	118.0					13																	47279253		2203	4300	6503	SO:0001583	missense	23143							g.chr13:47279253G>A	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.1451G>A	13.37:g.47279253G>A	ENSP00000374448:p.Gly484Glu					LRCH1_uc010acp.2_Missense_Mutation_p.G484E|LRCH1_uc001vbk.2_Missense_Mutation_p.G484E|LRCH1_uc001vbl.3_Missense_Mutation_p.G484E	p.G484E	NM_015116	NP_055931	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	12	1687	+		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	484					B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	ENST00000389798.3	37	c.1451G>A	CCDS31972.1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.490909	0.01018	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	T;T;T	0.46063	0.88;0.93;0.93	5.95	3.83	0.44106	.	0.419473	0.27080	N	0.021034	T	0.09468	0.0233	N	0.00308	-1.67	0.19775	N	0.999955	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.0	T	0.31447	-0.9943	10	0.07482	T	0.82	-0.2526	5.3325	0.15940	0.7738:0.0:0.2262:0.0	.	484;484;484;484	Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;.;LRCH1_HUMAN	E	484	ENSP00000308493:G484E;ENSP00000374448:G484E;ENSP00000374447:G484E	ENSP00000308493:G484E	G	+	2	0	LRCH1	46177254	1.000000	0.71417	0.088000	0.20740	0.283000	0.27025	3.146000	0.50631	0.653000	0.30826	0.655000	0.94253	GGA		0.284	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		8	54	0	0	0	0	8	54				
FNDC3A	22862	broad.mit.edu	37	13	49777296	49777296	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr13:49777296C>T	ENST00000492622.2	+	25	3463	c.3158C>T	c.(3157-3159)cCc>cTc	p.P1053L	FNDC3A_ENST00000398316.3_Missense_Mutation_p.P997L|FNDC3A_ENST00000541916.1_Missense_Mutation_p.P1053L	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1053	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CCTACAGCCCCCAAAATAGAG	0.303																																						uc001vcm.2		NA																	0				lung(2)	2						c.(3157-3159)CCC>CTC		fibronectin type III domain containing 3A							66.0	66.0	66.0					13																	49777296		2202	4298	6500	SO:0001583	missense	22862					Golgi membrane|integral to membrane		g.chr13:49777296C>T	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.3158C>T	13.37:g.49777296C>T	ENSP00000417257:p.Pro1053Leu					FNDC3A_uc001vcn.2_Missense_Mutation_p.P1053L|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcq.2_Missense_Mutation_p.P997L	p.P1053L	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	25	3463	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	1053			Fibronectin type-III 9.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	c.3158C>T	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374259	0.82573	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.38560	1.15;1.15;1.13	5.87	5.01	0.66863	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.085657	0.49916	D	0.000136	T	0.54013	0.1832	L	0.59912	1.85	0.80722	D	1	D;P	0.59357	0.985;0.781	P;P	0.62813	0.907;0.508	T	0.53027	-0.8496	10	0.06494	T	0.89	-14.6689	16.0057	0.80362	0.0:0.8654:0.1346:0.0	.	997;1053	Q9Y2H6-2;Q9Y2H6	.;FND3A_HUMAN	L	1053;989;1053;997	ENSP00000417257:P1053L;ENSP00000441831:P1053L;ENSP00000381362:P997L	ENSP00000338579:P989L	P	+	2	0	FNDC3A	48675297	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	7.251000	0.78297	1.440000	0.47531	0.655000	0.94253	CCC		0.303	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		5	24	0	0	0	0	5	24				
CKAP2	26586	broad.mit.edu	37	13	53036054	53036054	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr13:53036054G>T	ENST00000378037.5	+	4	1186	c.1096G>T	c.(1096-1098)Gag>Tag	p.E366*	CKAP2_ENST00000490903.1_Nonsense_Mutation_p.E317*|CKAP2_ENST00000258607.5_Nonsense_Mutation_p.E365*|CKAP2_ENST00000378034.3_Nonsense_Mutation_p.E365*	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3			cytoskeleton associated protein 2											breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		AACCTCGGAAGAGAGAAAGTA	0.343																																						uc001vgv.2		NA																	0				ovary(1)|skin(1)	2						c.(1096-1098)GAG>TAG		cytoskeleton associated protein 2 isoform 2							37.0	37.0	37.0					13																	53036054		2021	4221	6242	SO:0001587	stop_gained	26586				apoptosis|cell cycle	centrosome|microtubule|spindle pole		g.chr13:53036054G>T	AF177227	CCDS9435.1, CCDS41893.1, CCDS66557.1, CCDS73578.1	13q14	2014-03-21			ENSG00000136108	ENSG00000136108			1990	protein-coding gene	gene with protein product		611569				9771967	Standard	XM_005266343		Approved	LB1, FLJ10749, se20-10, TMAP	uc001vgv.2	Q8WWK9	OTTHUMG00000016967	ENST00000378037.5:c.1096G>T	13.37:g.53036054G>T	ENSP00000367276:p.Glu366*					CKAP2_uc001vgt.2_Nonsense_Mutation_p.E365*|CKAP2_uc001vgu.2_Nonsense_Mutation_p.E365*|CKAP2_uc010tha.1_Nonsense_Mutation_p.E317*	p.E366*	NM_001098525	NP_001091995	Q8WWK9	CKAP2_HUMAN		GBM - Glioblastoma multiforme(99;2.6e-08)	4	1293	+		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	366						Nonsense_Mutation	SNP	ENST00000378037.5	37	c.1096G>T	CCDS41893.1	.	.	.	.	.	.	.	.	.	.	.	18.64	3.668140	0.67814	.	.	ENSG00000136108	ENST00000398044;ENST00000258607;ENST00000378034;ENST00000378037;ENST00000490903	.	.	.	6.05	3.36	0.38483	.	0.355664	0.29668	N	0.011505	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.1476	16.4825	0.84161	0.0:0.4442:0.5557:0.0	.	.	.	.	X	366;365;365;366;317	.	.	E	+	1	0	CKAP2	51934055	1.000000	0.71417	0.866000	0.34008	0.323000	0.28346	2.658000	0.46733	0.414000	0.25790	-0.172000	0.13284	GAG		0.343	CKAP2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355010.2			11	19	1	0	6.4e-05	7.66e-05	11	19				
MYO16	23026	broad.mit.edu	37	13	109707435	109707435	+	Silent	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr13:109707435G>A	ENST00000357550.2	+	25	3065	c.3024G>A	c.(3022-3024)ttG>ttA	p.L1008L	MYO16_ENST00000356711.2_Silent_p.L1008L|MYO16_ENST00000457511.2_Silent_p.L520L	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TTCAAAGATTGGAACGAGGAG	0.343																																						uc001vqt.1		NA																	0				ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(3022-3024)TTG>TTA		myosin heavy chain Myr 8							70.0	69.0	69.0					13																	109707435		2203	4300	6503	SO:0001819	synonymous_variant	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109707435G>A		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3024G>A	13.37:g.109707435G>A						MYO16_uc010agk.1_Silent_p.L1030L|MYO16_uc001vqu.1_Silent_p.L808L|MYO16_uc010tjh.1_Silent_p.L520L	p.L1008L	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		26	3150	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		1008			Myosin head-like 2.			Silent	SNP	ENST00000357550.2	37	c.3024G>A	CCDS32008.1																																																																																				0.343	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		8	30	0	0	0	0	8	30				
SOX1	6656	broad.mit.edu	37	13	112722188	112722188	+	Missense_Mutation	SNP	G	G	T	rs535164513		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr13:112722188G>T	ENST00000330949.1	+	1	276	c.216G>T	c.(214-216)gaG>gaT	p.E72D		NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	72					chromatin organization (GO:0006325)|forebrain neuron development (GO:0021884)|lens morphogenesis in camera-type eye (GO:0002089)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		TGGCCCAGGAGAACCCCAAGA	0.677																																						uc001vsb.1		NA																	0					0						c.(214-216)GAG>GAT		SRY (sex determining region Y)-box 1							45.0	48.0	47.0					13																	112722188		2203	4298	6501	SO:0001583	missense	6656				chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:112722188G>T		CCDS9523.1	13q34	2008-07-18			ENSG00000182968	ENSG00000182968		"""SRY (sex determining region Y)-boxes"""	11189	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 1"""	602148				9337405	Standard	NM_005986		Approved		uc001vsb.1	O00570	OTTHUMG00000017362	ENST00000330949.1:c.216G>T	13.37:g.112722188G>T	ENSP00000330218:p.Glu72Asp						p.E72D	NM_005986	NP_005977	O00570	SOX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(48;0.132)	1	276	+	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)	72			HMG box.		Q5W0Q1	Missense_Mutation	SNP	ENST00000330949.1	37	c.216G>T	CCDS9523.1	.	.	.	.	.	.	.	.	.	.	g	18.13	3.554865	0.65425	.	.	ENSG00000182968	ENST00000330949	D	0.98585	-5.01	3.36	1.32	0.21799	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.64402	U	0.000001	D	0.97192	0.9082	L	0.39692	1.235	0.49915	D	0.999835	P	0.46912	0.886	P	0.57846	0.828	D	0.95289	0.8393	10	0.48119	T	0.1	.	9.2262	0.37407	0.2306:0.0:0.7694:0.0	.	72	O00570	SOX1_HUMAN	D	72	ENSP00000330218:E72D	ENSP00000330218:E72D	E	+	3	2	SOX1	111770189	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.492000	0.53259	0.624000	0.30286	0.450000	0.29827	GAG		0.677	SOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045817.3	NM_005986		8	42	1	0	3.1e-07	3.95e-07	8	42				
RPGRIP1	57096	broad.mit.edu	37	14	21771560	21771560	+	Missense_Mutation	SNP	A	A	T	rs371762530		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr14:21771560A>T	ENST00000400017.2	+	5	658	c.658A>T	c.(658-660)Atg>Ttg	p.M220L	RPGRIP1_ENST00000206660.6_Missense_Mutation_p.M220L|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000557771.1_Intron	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	220					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TGGTCTATGCATGCCTAACAG	0.403																																						uc001wag.2		NA																	0				ovary(4)|breast(2)|pancreas(1)	7						c.(658-660)ATG>TTG		retinitis pigmentosa GTPase regulator							62.0	59.0	60.0					14																	21771560		1938	4151	6089	SO:0001583	missense	57096				response to stimulus|visual perception	cilium		g.chr14:21771560A>T	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.658A>T	14.37:g.21771560A>T	ENSP00000382895:p.Met220Leu						p.M220L	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)	5	658	+	all_cancers(95;0.0017)	all_cancers(140;0.0973)	220					Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	c.658A>T	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.628575	0.00813	.	.	ENSG00000092200	ENST00000400017;ENST00000206660	T;T	0.33438	1.41;1.41	4.92	-0.209	0.13180	.	0.986023	0.08270	N	0.971669	T	0.18759	0.0450	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34825	-0.9813	10	0.02654	T	1	-0.5292	4.2608	0.10740	0.5467:0.171:0.2823:0.0	.	220	Q96KN7	RPGR1_HUMAN	L	220	ENSP00000382895:M220L;ENSP00000206660:M220L	ENSP00000206660:M220L	M	+	1	0	RPGRIP1	20841400	0.000000	0.05858	0.009000	0.14445	0.303000	0.27691	-0.025000	0.12413	0.056000	0.16144	0.533000	0.62120	ATG		0.403	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		13	31	0	0	0	0	13	31				
RABGGTA	5875	broad.mit.edu	37	14	24736904	24736904	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr14:24736904C>T	ENST00000399409.3	-	13	1798	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K	RABGGTA_ENST00000560777.1_Missense_Mutation_p.E48K|RABGGTA_ENST00000216840.6_Missense_Mutation_p.E439K|RABGGTA_ENST00000559586.1_5'Flank	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	439					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		TCGGCATACTCCATCTTGAGC	0.622																																						uc001wof.2		NA																	0					0						c.(1315-1317)GAG>AAG		Rab geranylgeranyltransferase alpha							58.0	60.0	59.0					14																	24736904		2184	4271	6455	SO:0001583	missense	5875				visual perception		Rab geranylgeranyltransferase activity|zinc ion binding	g.chr14:24736904C>T		CCDS45088.1	14q11.2	2011-06-27				ENSG00000100949		"""Prenyltransferase alpha subunit repeat containing"""	9795	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 3"""	601905				8954794	Standard	NM_182836		Approved	PTAR3	uc001wog.4	Q92696		ENST00000399409.3:c.1315G>A	14.37:g.24736904C>T	ENSP00000382341:p.Glu439Lys					RABGGTA_uc001woe.2_RNA|RABGGTA_uc001wog.2_Missense_Mutation_p.E439K|RABGGTA_uc001woh.2_RNA|RABGGTA_uc001woi.2_RNA	p.E439K	NM_004581	NP_004572	Q92696	PGTA_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	13	1737	-			439					A8K5N2|D3DS69	Missense_Mutation	SNP	ENST00000399409.3	37	c.1315G>A	CCDS45088.1	.	.	.	.	.	.	.	.	.	.	C	35	5.420800	0.96111	.	.	ENSG00000100949	ENST00000216840;ENST00000399409	T;T	0.42513	0.97;0.97	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000001	T	0.51618	0.1685	L	0.57536	1.79	0.80722	D	1	D	0.63046	0.992	P	0.52066	0.689	T	0.48725	-0.9010	10	0.40728	T	0.16	-15.4715	16.1673	0.81777	0.0:1.0:0.0:0.0	.	439	Q92696	PGTA_HUMAN	K	439	ENSP00000216840:E439K;ENSP00000382341:E439K	ENSP00000216840:E439K	E	-	1	0	RABGGTA	23806744	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.231000	0.72307	2.571000	0.86741	0.563000	0.77884	GAG		0.622	RABGGTA-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415308.5	NM_182836		8	35	0	0	0	0	8	35				
PRKD1	5587	broad.mit.edu	37	14	30135391	30135391	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr14:30135391G>C	ENST00000331968.5	-	3	656	c.427C>G	c.(427-429)Cag>Gag	p.Q143E	PRKD1_ENST00000415220.2_Missense_Mutation_p.Q143E	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	143					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GGACGAATCTGAAAGTCTTCA	0.408																																						uc001wqh.2		NA																	0				lung(3)|large_intestine(2)|ovary(2)|skin(1)	8						c.(427-429)CAG>GAG		protein kinase D1							120.0	115.0	116.0					14																	30135391		2203	4300	6503	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30135391G>C		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.427C>G	14.37:g.30135391G>C	ENSP00000333568:p.Gln143Glu						p.Q143E	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	3	608	-	Hepatocellular(127;0.0604)		143					A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.427C>G	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.640445	0.67244	.	.	ENSG00000184304	ENST00000331968;ENST00000415220;ENST00000549503	D;D;D	0.83673	-1.75;-1.75;-1.75	5.53	5.53	0.82687	Protein kinase C-like, phorbol ester/diacylglycerol binding (1);	0.000000	0.85682	D	0.000000	T	0.81494	0.4834	M	0.72894	2.215	0.80722	D	1	P	0.38745	0.645	B	0.36186	0.219	T	0.79266	-0.1874	10	0.10636	T	0.68	-21.9062	19.4531	0.94876	0.0:0.0:1.0:0.0	.	143	Q15139	KPCD1_HUMAN	E	143;143;66	ENSP00000333568:Q143E;ENSP00000390535:Q143E;ENSP00000446866:Q66E	ENSP00000333568:Q143E	Q	-	1	0	PRKD1	29205142	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.957000	0.87870	2.600000	0.87896	0.591000	0.81541	CAG		0.408	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		12	43	0	0	0	0	12	43				
NID2	22795	broad.mit.edu	37	14	52520359	52520359	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr14:52520359G>A	ENST00000216286.5	-	5	1366	c.1367C>T	c.(1366-1368)aCa>aTa	p.T456I	NID2_ENST00000541773.1_Missense_Mutation_p.T403I	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	456					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					ACTTAAGGGTGTAGTGTGACC	0.498																																						uc001wzo.2		NA																	0				pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7						c.(1366-1368)ACA>ATA		nidogen 2 precursor							139.0	139.0	139.0					14																	52520359		2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52520359G>A	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.1367C>T	14.37:g.52520359G>A	ENSP00000216286:p.Thr456Ile					NID2_uc010tqs.1_Missense_Mutation_p.T456I|NID2_uc010tqt.1_Missense_Mutation_p.T456I|NID2_uc001wzp.2_Missense_Mutation_p.T456I	p.T456I	NM_007361	NP_031387	Q14112	NID2_HUMAN			5	1601	-	Breast(41;0.0639)|all_epithelial(31;0.123)		456					A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.1367C>T	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	G	8.271	0.813359	0.16537	.	.	ENSG00000087303	ENST00000216286;ENST00000541773;ENST00000395707	D;D	0.83250	-1.7;-1.59	5.61	2.84	0.33178	.	1.604960	0.03251	N	0.181788	T	0.72740	0.3498	N	0.14661	0.345	0.09310	N	1	B;B;B	0.20988	0.05;0.042;0.012	B;B;B	0.21917	0.037;0.015;0.004	T	0.56517	-0.7966	10	0.20519	T	0.43	.	10.089	0.42436	0.2208:0.0:0.7792:0.0	.	403;458;456	Q14112-2;Q5CZI2;Q14112	.;.;NID2_HUMAN	I	456;403;458	ENSP00000216286:T456I;ENSP00000443730:T403I	ENSP00000216286:T456I	T	-	2	0	NID2	51590109	0.077000	0.21312	0.000000	0.03702	0.001000	0.01503	2.755000	0.47540	0.328000	0.23435	0.655000	0.94253	ACA		0.498	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			37	125	0	0	0	0	37	125				
DACT1	51339	broad.mit.edu	37	14	59112196	59112196	+	Silent	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr14:59112196T>C	ENST00000335867.4	+	4	879	c.855T>C	c.(853-855)ctT>ctC	p.L285L	DACT1_ENST00000395153.3_Silent_p.L248L|DACT1_ENST00000556859.1_Silent_p.L4L|DACT1_ENST00000541264.2_Silent_p.L4L			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	285					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TGTTTCTCCTTTGTCTGACGG	0.502																																						uc001xdw.2		NA																	0				large_intestine(2)|lung(2)|ovary(1)	5						c.(853-855)CTT>CTC		dapper 1 isoform 1							133.0	122.0	126.0					14																	59112196		2203	4300	6503	SO:0001819	synonymous_variant	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59112196T>C	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.855T>C	14.37:g.59112196T>C						DACT1_uc010trv.1_Silent_p.L4L|DACT1_uc001xdx.2_Silent_p.L248L|DACT1_uc010trw.1_Silent_p.L4L	p.L285L	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN			4	1019	+			285					A8MYJ2|Q86TY0	Silent	SNP	ENST00000335867.4	37	c.855T>C	CCDS9736.1																																																																																				0.502	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		13	67	0	0	0	0	13	67				
SYT16	83851	broad.mit.edu	37	14	62547851	62547851	+	Silent	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr14:62547851T>C	ENST00000430451.2	+	4	1490	c.1293T>C	c.(1291-1293)tgT>tgC	p.C431C	RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	431	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TGGCTGCCTGTGCTGTCCGCT	0.572																																						uc001xfu.1		NA																	0				central_nervous_system(1)	1						c.(1291-1293)TGT>TGC		synaptotagmin XIV-like							33.0	38.0	36.0					14																	62547851		2182	4288	6470	SO:0001819	synonymous_variant	83851							g.chr14:62547851T>C	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1293T>C	14.37:g.62547851T>C						SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_5'UTR	p.C431C	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	4	1490	+			431			C2 1.		B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Silent	SNP	ENST00000430451.2	37	c.1293T>C	CCDS45121.1																																																																																				0.572	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		6	23	0	0	0	0	6	23				
PPP4R4	57718	broad.mit.edu	37	14	94640869	94640869	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr14:94640869G>A	ENST00000304338.3	+	1	221	c.67G>A	c.(67-69)Gac>Aac	p.D23N	PPP4R4_ENST00000555690.1_3'UTR|PPP4R4_ENST00000328839.3_Missense_Mutation_p.D23N	NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	23					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TTACATGGAGGACCTGCAGGA	0.721																																						uc001ycs.1		NA																	0				skin(3)|upper_aerodigestive_tract(1)	4						c.(67-69)GAC>AAC		HEAT-like repeat-containing protein isoform 1							28.0	30.0	29.0					14																	94640869		2202	4300	6502	SO:0001583	missense	57718					cytoplasm|protein serine/threonine phosphatase complex	protein binding	g.chr14:94640869G>A	AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.67G>A	14.37:g.94640869G>A	ENSP00000305924:p.Asp23Asn					PPP4R4_uc001ycr.2_Missense_Mutation_p.D23N	p.D23N	NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN			1	221	+			23					Q9BUF8|Q9HCF0	Missense_Mutation	SNP	ENST00000304338.3	37	c.67G>A	CCDS9921.1	.	.	.	.	.	.	.	.	.	.	g	26.9	4.785487	0.90282	.	.	ENSG00000119698	ENST00000304338;ENST00000328839	.	.	.	2.86	2.86	0.33363	.	0.123114	0.53938	U	0.000053	T	0.63920	0.2552	L	0.60455	1.87	0.45452	D	0.998424	B;P	0.52061	0.241;0.95	B;P	0.54965	0.196;0.765	T	0.64947	-0.6287	9	0.39692	T	0.17	-3.1942	12.7161	0.57115	0.0:0.0:1.0:0.0	.	23;23	Q6NUP7;Q6NUP7-2	PP4R4_HUMAN;.	N	23	.	ENSP00000305924:D23N	D	+	1	0	PPP4R4	93710622	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.905000	0.75714	1.588000	0.49971	0.394000	0.25966	GAC		0.721	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237		19	36	0	0	0	0	19	36				
RTL1	388015	broad.mit.edu	37	14	101349302	101349302	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr14:101349302G>T	ENST00000534062.1	-	1	1882	c.1824C>A	c.(1822-1824)taC>taA	p.Y608*	MIR127_ENST00000384876.1_RNA|MIR433_ENST00000384837.1_RNA|MIR432_ENST00000606207.1_RNA|MIR431_ENST00000385266.1_RNA|MIR136_ENST00000385207.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	608					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						AGGGACACTCGTAAAAGGTCT	0.567																																						uc010txj.1		NA																	0				pancreas(1)	1						c.(1822-1824)TAC>TAA		retrotransposon-like 1							54.0	49.0	51.0					14																	101349302		1568	3582	5150	SO:0001587	stop_gained	388015							g.chr14:101349302G>T		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.1824C>A	14.37:g.101349302G>T	ENSP00000435342:p.Tyr608*					uc001yig.3_5'Flank|MIR127_hsa-mir-127|MI0000472_5'Flank|MIR432_hsa-mir-432|MI0003133_5'Flank|uc010txk.1_5'Flank|MIR136_hsa-mir-136|MI0000475_5'Flank	p.Y608*	NM_001134888	NP_001128360	A6NKG5	RTL1_HUMAN			1	1883	-			608					E9PKS8	Nonsense_Mutation	SNP	ENST00000534062.1	37	c.1824C>A	CCDS53910.1	.	.	.	.	.	.	.	.	.	.	G	37	6.031542	0.97221	.	.	ENSG00000254656	ENST00000534062	.	.	.	3.71	2.8	0.32819	.	0.878077	0.09282	N	0.823631	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.6774	0.23102	0.0:0.1996:0.5944:0.206	.	.	.	.	X	608	.	ENSP00000435342:Y608X	Y	-	3	2	RTL1	100419055	0.029000	0.19370	0.003000	0.11579	0.912000	0.54170	0.436000	0.21526	1.129000	0.42072	0.591000	0.81541	TAC		0.567	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888		8	35	1	0	3.1e-07	3.95e-07	8	35				
OR4M2	390538	broad.mit.edu	37	15	22369359	22369359	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr15:22369359C>G	ENST00000332663.2	+	1	882	c.784C>G	c.(784-786)Cgc>Ggc	p.R262G	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CATTTATGCTCGCCCATTTGA	0.418																																						uc010tzu.1		NA																	0				ovary(1)	1						c.(784-786)CGC>GGC		olfactory receptor, family 4, subfamily M,							304.0	227.0	253.0					15																	22369359		2203	4300	6503	SO:0001583	missense	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22369359C>G	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.784C>G	15.37:g.22369359C>G	ENSP00000329467:p.Arg262Gly					LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	p.R262G	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	784	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	262			Extracellular (Potential).		B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	c.784C>G	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	13.10	2.136809	0.37728	.	.	ENSG00000182974	ENST00000332663	T	0.35973	1.28	2.28	2.28	0.28536	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000118	T	0.54240	0.1846	M	0.87456	2.885	0.09310	N	1	P	0.44309	0.832	P	0.58620	0.842	T	0.37478	-0.9704	10	0.38643	T	0.18	-5.3801	6.2993	0.21103	0.2955:0.7045:0.0:0.0	.	262	Q8NGB6	OR4M2_HUMAN	G	262	ENSP00000329467:R262G	ENSP00000329467:R262G	R	+	1	0	OR4M2	19870723	0.011000	0.17503	0.999000	0.59377	0.903000	0.53119	0.634000	0.24614	1.297000	0.44761	0.448000	0.29417	CGC		0.418	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			6	141	0	0	0	0	6	141				
SNRPN	6638	broad.mit.edu	37	15	25222051	25222052	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr15:25222051_25222052GG>TT	ENST00000400100.1	+	10	1185_1186	c.295_296GG>TT	c.(295-297)GGa>TTa	p.G99L	SNRPN_ENST00000400098.1_Missense_Mutation_p.G99L|SNRPN_ENST00000400097.1_Missense_Mutation_p.G99L|SNHG14_ENST00000551631.2_RNA|SNRPN_ENST00000577565.1_Missense_Mutation_p.G99L|SNRPN_ENST00000554227.2_Missense_Mutation_p.G103L|SNRPN_ENST00000444203.2_Missense_Mutation_p.G103L|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000346403.6_Missense_Mutation_p.G99L|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000390687.4_Missense_Mutation_p.G99L	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	99					response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)	p.G99*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		ACCACTTGCTGGAGCTGCTGGA	0.51									Prader-Willi syndrome																													uc001ywp.1		NA																	1	Substitution - Nonsense(1)		breast(1)	ovary(1)	1						c.(295-297)GGA>TTA		small nuclear ribonucleoprotein polypeptide N																																				SO:0001583	missense	6638	Prader-Willi_syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding	g.chr15:25222051_25222052GG>TT	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"""tissue-specific splicing protein"", ""SM protein N"", ""small nuclear ribonucleoprotein N"""	182279	"""Prader-Willi syndrome chromosome region"""	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	Exception_encountered	15.37:g.25222051_25222052delinsTT	ENSP00000382972:p.Gly99Leu					SNRPN_uc001ywq.1_Missense_Mutation_p.G99L|SNRPN_uc001ywr.1_Missense_Mutation_p.G99L|SNRPN_uc001yws.1_Missense_Mutation_p.G99L|SNRPN_uc001ywt.1_Missense_Mutation_p.G99L|SNRPN_uc001ywv.1_Missense_Mutation_p.G102L|SNRPN_uc001yww.1_Missense_Mutation_p.G99L|SNRPN_uc001ywx.1_Missense_Mutation_p.G99L|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR	p.G99L	NM_022807	NP_073718	P63162	RSMN_HUMAN		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)	10	1185_1186	+		all_cancers(20;9.33e-22)|Breast(32;0.000625)	99					B3KVR1|P14648|P17135|Q0D2Q5	Missense_Mutation	DNP	ENST00000400100.1	37	c.295_296GG>TT	CCDS10017.1																																																																																				0.510	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413849.10	NM_003097		13	75	0	0	0	0	13	75				
ONECUT1	3175	broad.mit.edu	37	15	53050034	53050034	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr15:53050034C>T	ENST00000305901.5	-	2	1243	c.1116G>A	c.(1114-1116)agG>agA	p.R372R	ONECUT1_ENST00000560699.2_Missense_Mutation_p.G13E|ONECUT1_ENST00000561401.2_5'UTR	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	372					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		CTTGTTCTTTCCTTTTGCATG	0.423																																						uc002aci.1		NA																	0					0						c.(1114-1116)AGG>AGA		one cut homeobox 1							152.0	150.0	151.0					15																	53050034		2194	4293	6487	SO:0001819	synonymous_variant	3175				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr15:53050034C>T	U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"""Homeoboxes / CUT class"""	8138	protein-coding gene	gene with protein product		604164	"""one cut domain, family member 1"""	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.1116G>A	15.37:g.53050034C>T							p.R372R	NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN		all cancers(107;0.0708)	2	1244	-			372					B2RTV4|Q99744|Q9UMR6	Silent	SNP	ENST00000305901.5	37	c.1116G>A	CCDS10150.1																																																																																				0.423	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254849.2			17	95	0	0	0	0	17	95				
UNC13C	440279	broad.mit.edu	37	15	54847645	54847645	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr15:54847645G>T	ENST00000260323.11	+	28	5893	c.5893G>T	c.(5893-5895)Gag>Tag	p.E1965*	UNC13C_ENST00000537900.1_Nonsense_Mutation_p.E1963*|UNC13C_ENST00000545554.1_Nonsense_Mutation_p.E1965*	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1965	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CATGATTCGAGAGGATGCCAG	0.413																																						uc002ack.2		NA																	0				ovary(5)|pancreas(2)	7						c.(5893-5895)GAG>TAG		unc-13 homolog C							74.0	72.0	72.0					15																	54847645		1945	4133	6078	SO:0001587	stop_gained	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54847645G>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5893G>T	15.37:g.54847645G>T	ENSP00000260323:p.Glu1965*						p.E1965*	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	27	5893	+			1965			MHD2.		Q0P613|Q8ND48|Q96NP3	Nonsense_Mutation	SNP	ENST00000260323.11	37	c.5893G>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	47	13.424059	0.99741	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	.	.	.	5.69	5.69	0.88448	.	0.291865	0.36665	N	0.002475	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	18.7898	0.91969	0.0:0.0:1.0:0.0	.	.	.	.	X	1965;1965;1963	.	ENSP00000260323:E1965X	E	+	1	0	UNC13C	52634937	1.000000	0.71417	0.990000	0.47175	0.987000	0.75469	9.028000	0.93712	2.677000	0.91161	0.655000	0.94253	GAG		0.413	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		6	45	1	0	8.13e-05	9.63e-05	6	45				
CCPG1	9236	broad.mit.edu	37	15	55657499	55657499	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr15:55657499G>A	ENST00000310958.6	-	7	1013	c.715C>T	c.(715-717)Cag>Tag	p.Q239*	CCPG1_ENST00000442196.3_Nonsense_Mutation_p.Q239*|CCPG1_ENST00000569205.1_Nonsense_Mutation_p.Q239*|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000425574.3_Nonsense_Mutation_p.Q239*	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	239	Interaction with MCF2L and SRC. {ECO:0000250}.				cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TTCTGAATCTGAATTGTGCCt	0.269																																						uc002acv.1		NA																	0				ovary(1)	1						c.(715-717)CAG>TAG		cell cycle progression 1 isoform 2							75.0	72.0	73.0					15																	55657499		1781	4042	5823	SO:0001587	stop_gained	9236				cell cycle	integral to membrane		g.chr15:55657499G>A	AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.715C>T	15.37:g.55657499G>A	ENSP00000311656:p.Gln239*					CCPG1_uc002acy.2_Nonsense_Mutation_p.Q239*|CCPG1_uc002acu.1_Nonsense_Mutation_p.Q95*|CCPG1_uc002acw.1_Intron|CCPG1_uc002acx.2_Nonsense_Mutation_p.Q239*|CCPG1_uc010bfk.1_Nonsense_Mutation_p.Q239*|CCPG1_uc002acz.1_Nonsense_Mutation_p.Q239*	p.Q239*	NM_020739	NP_065790	Q9ULG6	CCPG1_HUMAN		all cancers(107;0.0354)	7	880	-			239			Lumenal (Potential).|Interaction with MCF2L and SRC (By similarity).		A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Nonsense_Mutation	SNP	ENST00000310958.6	37	c.715C>T	CCDS42039.1	.	.	.	.	.	.	.	.	.	.	G	41	8.912025	0.99000	.	.	ENSG00000256061	ENST00000310958;ENST00000442196;ENST00000425574	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	18.1611	0.89708	0.0:0.0:1.0:0.0	.	.	.	.	X	239	.	ENSP00000311656:Q239X	Q	-	1	0	DYX1C1	53444791	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.196000	0.77805	2.534000	0.85438	0.585000	0.79938	CAG		0.269	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748		15	70	0	0	0	0	15	70				
VPS13C	54832	broad.mit.edu	37	15	62217667	62217667	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr15:62217667T>G	ENST00000261517.5	-	53	6670	c.6597A>C	c.(6595-6597)gaA>gaC	p.E2199D	VPS13C_ENST00000249837.3_Missense_Mutation_p.E2156D|VPS13C_ENST00000395898.3_Missense_Mutation_p.E2156D|VPS13C_ENST00000395896.4_Missense_Mutation_p.E2199D	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TAATTATAAATTCTTTAACCA	0.294																																						uc002agz.2		NA																	0				ovary(2)	2						c.(6595-6597)GAA>GAC		vacuolar protein sorting 13C protein isoform 2A							25.0	27.0	26.0					15																	62217667		2180	4271	6451	SO:0001583	missense	54832				protein localization			g.chr15:62217667T>G	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.6597A>C	15.37:g.62217667T>G	ENSP00000261517:p.Glu2199Asp					VPS13C_uc002aha.2_Missense_Mutation_p.E2156D|VPS13C_uc002ahb.1_Missense_Mutation_p.E2199D|VPS13C_uc002ahc.1_Missense_Mutation_p.E2156D	p.E2199D	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			53	6671	-			2199						Missense_Mutation	SNP	ENST00000261517.5	37	c.6597A>C	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	T	14.56	2.573152	0.45902	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.42131	0.98;0.98;0.98	5.46	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	L	0.61036	1.89	0.50313	D	0.999865	B;B;B;B	0.28082	0.007;0.2;0.007;0.127	B;B;B;B	0.31290	0.011;0.127;0.028;0.066	T	0.12016	-1.0564	10	0.20519	T	0.43	.	8.3738	0.32432	0.0:0.224:0.0:0.776	.	2156;2199;2156;2199	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	D	2156;2199;2199;2199	ENSP00000249837:E2156D;ENSP00000261517:E2199D;ENSP00000379233:E2199D	ENSP00000249837:E2156D	E	-	3	2	VPS13C	60004959	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.381000	0.34362	0.965000	0.38133	0.477000	0.44152	GAA		0.294	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		3	5	0	0	0	0	3	5				
KIAA1024	23251	broad.mit.edu	37	15	79748907	79748907	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr15:79748907G>A	ENST00000305428.3	+	2	493	c.418G>A	c.(418-420)Gag>Aag	p.E140K		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	140						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CCTGAACTGTGAGCTGAGTGA	0.577																																						uc002bew.1		NA																	0				pancreas(2)|ovary(1)|central_nervous_system(1)	4						c.(418-420)GAG>AAG		hypothetical protein LOC23251							97.0	95.0	95.0					15																	79748907		2196	4293	6489	SO:0001583	missense	23251					integral to membrane		g.chr15:79748907G>A	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.418G>A	15.37:g.79748907G>A	ENSP00000307461:p.Glu140Lys					KIAA1024_uc010unk.1_Missense_Mutation_p.E140K	p.E140K	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN			2	493	+			140					A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	c.418G>A	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.898958	0.33535	.	.	ENSG00000169330	ENST00000305428	T	0.35048	1.33	5.88	4.94	0.65067	.	0.549767	0.21465	N	0.074092	T	0.34106	0.0886	M	0.63428	1.95	0.32907	D	0.513989	B	0.10296	0.003	B	0.06405	0.002	T	0.40365	-0.9567	9	.	.	.	.	9.8406	0.40996	0.0723:0.1736:0.7541:0.0	.	140	Q9UPX6	K1024_HUMAN	K	140	ENSP00000307461:E140K	.	E	+	1	0	KIAA1024	77535962	0.024000	0.19004	0.085000	0.20634	0.911000	0.54048	1.248000	0.32827	1.380000	0.46344	0.591000	0.81541	GAG		0.577	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		9	82	0	0	0	0	9	82				
HAPLN3	145864	broad.mit.edu	37	15	89417692	89417692	+	IGR	SNP	C	C	A	rs368681276		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr15:89417692C>A	ENST00000359595.3	-	0	1980				ACAN_ENST00000352105.7_Missense_Mutation_p.R2426S|ACAN_ENST00000439576.2_Missense_Mutation_p.R2525S|ACAN_ENST00000561243.1_Missense_Mutation_p.R2525S|ACAN_ENST00000559004.1_Missense_Mutation_p.R2487S	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)				Hyaluronan(DB08818)	TCGGAGGAGCCGCCCCAGCAC	0.617																																						uc010upo.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(7573-7575)CGC>AGC		aggrecan isoform 2 precursor							27.0	33.0	31.0					15																	89417692		2126	4234	6360	SO:0001628	intergenic_variant	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89417692C>A	AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511		"""Immunoglobulin superfamily / V-set domain containing"""	21446	protein-coding gene	gene with protein product			"""extracellular link domain containing, 1"""	EXLD1		12663660	Standard	NM_178232		Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680		15.37:g.89417692C>A						ACAN_uc010upp.1_Missense_Mutation_p.R2426S|ACAN_uc002bna.2_RNA	p.R2525S	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		18	7947	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		2525					A8K7P0	Missense_Mutation	SNP	ENST00000359595.3	37	c.7573C>A	CCDS10346.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.340913	0.41498	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02944	4.7;4.1	4.8	2.77	0.32553	.	0.311309	0.16520	N	0.210859	T	0.06050	0.0157	L	0.47716	1.5	0.09310	N	0.999995	B;D	0.63046	0.253;0.992	B;P	0.54664	0.033;0.758	T	0.25363	-1.0134	10	0.59425	D	0.04	-0.1704	6.9634	0.24610	0.1882:0.6026:0.2092:0.0	.	2426;2525	E7ENV9;E7EX88	.;.	S	2525;2426;2411	ENSP00000387356:R2525S;ENSP00000341615:R2426S	ENSP00000268134:R2411S	R	+	1	0	ACAN	87218696	0.032000	0.19561	0.755000	0.31263	0.277000	0.26821	1.942000	0.40243	1.196000	0.43129	0.655000	0.94253	CGC		0.617	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	NM_178232		4	13	1	0	0.00909568	0.00982103	4	13				
CIITA	4261	broad.mit.edu	37	16	10995954	10995954	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr16:10995954A>C	ENST00000324288.8	+	7	674	c.541A>C	c.(541-543)Acc>Ccc	p.T181P	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	181					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CGACTGCTCCACCCTGCCCTG	0.617			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	uc002dai.3		NA		Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75		PMBL|Hodgkin Lymphona|		0				central_nervous_system(1)	1						c.(541-543)ACC>CCC		class II transactivator							61.0	65.0	64.0					16																	10995954		2197	4300	6497	SO:0001583	missense	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:10995954A>C	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.541A>C	16.37:g.10995954A>C	ENSP00000316328:p.Thr181Pro					CIITA_uc002daj.3_Missense_Mutation_p.T182P|CIITA_uc002dak.3_Intron|CIITA_uc002dag.2_Missense_Mutation_p.T181P|CIITA_uc002dah.2_Intron|CIITA_uc010bup.1_Missense_Mutation_p.T181P	p.T181P	NM_000246	NP_000237	P33076	C2TA_HUMAN			7	674	+			181					A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	c.541A>C	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	A	7.514	0.655234	0.14580	.	.	ENSG00000179583	ENST00000324288;ENST00000537380	T	0.73047	-0.71	4.22	-2.45	0.06481	.	.	.	.	.	T	0.35828	0.0945	N	0.02011	-0.69	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.12993	-1.0526	9	0.38643	T	0.18	.	1.9005	0.03267	0.1905:0.3642:0.3008:0.1445	.	181;181;181;181	F5H2J4;A0N0N9;P33076;Q96KL4	.;.;C2TA_HUMAN;.	P	181	ENSP00000316328:T181P	ENSP00000316328:T181P	T	+	1	0	CIITA	10903455	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.077000	0.11394	-0.689000	0.05149	-2.403000	0.00223	ACC		0.617	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		11	126	0	0	0	0	11	126				
CNOT1	23019	broad.mit.edu	37	16	58612676	58612676	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr16:58612676G>C	ENST00000317147.5	-	13	1843	c.1511C>G	c.(1510-1512)tCc>tGc	p.S504C	CNOT1_ENST00000441024.2_Missense_Mutation_p.S504C|CNOT1_ENST00000569240.1_Missense_Mutation_p.S504C	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	504					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CATCAGAGTGGAGATAAGTTC	0.448																																						uc002env.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(1510-1512)TCC>TGC		CCR4-NOT transcription complex, subunit 1							220.0	195.0	203.0					16																	58612676		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58612676G>C	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.1511C>G	16.37:g.58612676G>C	ENSP00000320949:p.Ser504Cys					CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.S504C|CNOT1_uc002enx.2_Missense_Mutation_p.S504C|CNOT1_uc002enz.1_Intron	p.S504C	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	13	1804	-			504					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.1511C>G	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	32	5.185888	0.94885	.	.	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	T;T	0.20463	2.07;2.07	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.50394	0.1613	M	0.77313	2.365	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;P;D	0.79108	0.992;0.862;0.935	T	0.45175	-0.9279	9	.	.	.	-1.2015	19.7214	0.96144	0.0:0.0:1.0:0.0	.	504;504;504	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	C	504	ENSP00000320949:S504C;ENSP00000413113:S504C	.	S	-	2	0	CNOT1	57170177	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.852000	0.99516	2.666000	0.90696	0.555000	0.69702	TCC		0.448	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		9	65	0	0	0	0	9	65				
SMPD3	55512	broad.mit.edu	37	16	68395622	68395622	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr16:68395622A>T	ENST00000219334.5	-	8	2353	c.1750T>A	c.(1750-1752)Ttt>Att	p.F584I	SMPD3_ENST00000566009.1_5'Flank|SMPD3_ENST00000563226.1_Missense_Mutation_p.F576I|SMPD3_ENST00000568373.1_Intron	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	584					cell cycle (GO:0007049)|glycosphingolipid metabolic process (GO:0006687)|hematopoietic progenitor cell differentiation (GO:0002244)|peptide hormone secretion (GO:0030072)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	Golgi cis cisterna (GO:0000137)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CTGGTGGGAAACGCCAGGTAC	0.682																																						uc002ewa.2		NA																	0				skin(1)	1						c.(1750-1752)TTT>ATT		neutral sphingomyelin phosphodiesterase 3	Phosphatidylserine(DB00144)						51.0	41.0	44.0					16																	68395622		2198	4300	6498	SO:0001583	missense	55512				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	g.chr16:68395622A>T	AJ250460	CCDS10867.1	16q22.1	2008-02-05			ENSG00000103056	ENSG00000103056			14240	protein-coding gene	gene with protein product		605777				10823942	Standard	NM_018667		Approved	NSMASE2	uc002ewa.3	Q9NY59	OTTHUMG00000137559	ENST00000219334.5:c.1750T>A	16.37:g.68395622A>T	ENSP00000219334:p.Phe584Ile					SMPD3_uc010cfe.2_Intron|SMPD3_uc010vlh.1_Missense_Mutation_p.F576I	p.F584I	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	8	2172	-		Ovarian(137;0.0563)	584			Lumenal (Potential).		B7ZL82|Q2M1S8	Missense_Mutation	SNP	ENST00000219334.5	37	c.1750T>A	CCDS10867.1	.	.	.	.	.	.	.	.	.	.	A	17.59	3.427680	0.62733	.	.	ENSG00000103056	ENST00000219334	T	0.33865	1.39	5.6	4.5	0.54988	Endonuclease/exonuclease/phosphatase (2);	0.297227	0.37715	N	0.001977	T	0.33059	0.0850	N	0.22421	0.69	0.40023	D	0.975435	D;P	0.56035	0.974;0.572	P;B	0.54026	0.74;0.304	T	0.04191	-1.0970	10	0.22706	T	0.39	-16.2223	9.9851	0.41837	0.9178:0.0:0.0822:0.0	.	576;584	B7ZL82;Q9NY59	.;NSMA2_HUMAN	I	584	ENSP00000219334:F584I	ENSP00000219334:F584I	F	-	1	0	SMPD3	66953123	1.000000	0.71417	0.988000	0.46212	0.973000	0.67179	6.929000	0.75852	2.143000	0.66587	0.459000	0.35465	TTT		0.682	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268895.3	NM_018667		20	57	0	0	0	0	20	57				
PMFBP1	83449	broad.mit.edu	37	16	72188257	72188257	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr16:72188257T>A	ENST00000237353.10	-	4	528	c.267A>T	c.(265-267)aaA>aaT	p.K89N	PMFBP1_ENST00000355636.6_5'UTR|PMFBP1_ENST00000543746.1_5'UTR|PMFBP1_ENST00000537465.1_Missense_Mutation_p.K89N	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	89						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GGACCAGCAATTTTTTCTTCA	0.453																																						uc002fcc.3		NA																	0				ovary(2)	2						c.(265-267)AAA>AAT		polyamine modulated factor 1 binding protein 1							173.0	153.0	160.0					16																	72188257		2198	4300	6498	SO:0001583	missense	83449							g.chr16:72188257T>A	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.267A>T	16.37:g.72188257T>A	ENSP00000237353:p.Lys89Asn					PMFBP1_uc002fcd.2_Missense_Mutation_p.K89N|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_5'UTR	p.K89N	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN			4	439	-		Ovarian(137;0.179)	89			Potential.		B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000237353.10	37	c.267A>T	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.073118	0.76415	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000535461;ENST00000539172	D;D	0.81739	-1.53;-1.53	5.63	0.395	0.16304	.	0.000000	0.50627	D	0.000113	T	0.78438	0.4283	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71656	0.974;0.974	T	0.74390	-0.3681	10	0.48119	T	0.1	-24.7642	8.2225	0.31549	0.0:0.4528:0.0:0.5472	.	89;89	Q8TBY8-2;G3V1Q7	.;.	N	89	ENSP00000443817:K89N;ENSP00000237353:K89N	ENSP00000237353:K89N	K	-	3	2	PMFBP1	70745758	0.741000	0.28217	0.996000	0.52242	0.971000	0.66376	-0.033000	0.12246	0.125000	0.18397	0.533000	0.62120	AAA		0.453	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		17	88	0	0	0	0	17	88				
PKD1L2	114780	broad.mit.edu	37	16	81236234	81236234	+	RNA	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr16:81236234G>A	ENST00000525539.1	-	0	1013				PKD1L2_ENST00000337114.4_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						TGTCTCGCACGGTCACCTGCC	0.582																																						uc002fgh.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1012-1014)ACC>ACT		polycystin 1-like 2 isoform a							59.0	65.0	63.0					16																	81236234		2181	4275	6456			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81236234G>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.81236234G>A						PKD1L2_uc002fgj.2_Silent_p.T338T	p.T338T	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			6	1014	-			338			Extracellular (Potential).		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	ENST00000525539.1	37	c.1014C>T																																																																																					0.582	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			20	60	0	0	0	0	20	60				
TP53	7157	broad.mit.edu	37	17	7577556	7577556	+	Missense_Mutation	SNP	C	C	A	rs121912655|rs397516437		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr17:7577556C>A	ENST00000269305.4	-	7	914	c.725G>T	c.(724-726)tGc>tTc	p.C242F	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.C242F|TP53_ENST00000455263.2_Missense_Mutation_p.C242F|TP53_ENST00000445888.2_Missense_Mutation_p.C242F|TP53_ENST00000413465.2_Missense_Mutation_p.C242F|TP53_ENST00000420246.2_Missense_Mutation_p.C242F	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	242	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:16959974}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; 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.C242F(82)|p.C242Y(44)|p.C242S(16)|p.0?(8)|p.C149F(6)|p.?(5)|p.N239_C242delNSSC(3)|p.C149Y(2)|p.C238fs*21(1)|p.C242fs*20(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)	GCCGCCCATGCAGGAACTGTT	0.577		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		175	Substitution - Missense(150)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(5)|Deletion - Frameshift(4)|Complex - deletion inframe(1)	p.C242F(63)|p.C242Y(37)|p.C242S(25)|p.C242fs*5(16)|p.C242R(11)|p.C242W(7)|p.0?(7)|p.N239_C242delNSSC(3)|p.C242*(3)|p.C242C(2)|p.C242G(2)|p.C242fs*20(1)|p.C242fs*23(1)|p.Y236_M243delYMCNSSCM(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*98(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241_G245delSCMGG(1)|p.N239_C242del(1)	lung(35)|upper_aerodigestive_tract(22)|liver(16)|oesophagus(15)|large_intestine(13)|breast(12)|central_nervous_system(11)|ovary(11)|urinary_tract(9)|biliary_tract(6)|haematopoietic_and_lymphoid_tissue(6)|stomach(5)|bone(5)|endometrium(3)|soft_tissue(1)|eye(1)|thymus(1)|kidney(1)|pancreas(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	CM910618	TP53	M	rs121912655	c.(724-726)TGC>TTC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							140.0	107.0	119.0					17																	7577556		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.chr17:7577556C>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.725G>T	17.37:g.7577556C>A	ENSP00000269305:p.Cys242Phe	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.C242F|TP53_uc002gih.2_Missense_Mutation_p.C242F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C110F|TP53_uc010cng.1_Missense_Mutation_p.C110F|TP53_uc002gii.1_Missense_Mutation_p.C110F|TP53_uc010cnh.1_Missense_Mutation_p.C242F|TP53_uc010cni.1_Missense_Mutation_p.C242F|TP53_uc002gij.2_Missense_Mutation_p.C242F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C149F|TP53_uc002gio.2_Missense_Mutation_p.C110F	p.C242F	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	919	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	242		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|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.725G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.366336	0.82463	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99915	-7.99;-7.99;-7.99;-7.99;-7.99;-7.99;-7.99;-7.99	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99930	0.9968	M	0.92784	3.345	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.95727	0.8771	10	0.87932	D	0	-27.558	15.3618	0.74483	0.0:1.0:0.0:0.0	.	242;242;149;242;242;242	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	F	242;242;242;242;242;242;231;149;110;149	ENSP00000410739:C242F;ENSP00000352610:C242F;ENSP00000269305:C242F;ENSP00000398846:C242F;ENSP00000391127:C242F;ENSP00000391478:C242F;ENSP00000425104:C110F;ENSP00000423862:C149F	ENSP00000269305:C242F	C	-	2	0	TP53	7518281	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	TGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	44	1	0	3e-07	3.85e-07	28	44				
NTN1	9423	broad.mit.edu	37	17	8926249	8926249	+	Silent	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr17:8926249C>A	ENST00000173229.2	+	2	666	c.559C>A	c.(559-561)Cgg>Agg	p.R187R	NTN1_ENST00000546090.1_Silent_p.R187R|NTN1_ENST00000538852.1_Silent_p.R187R	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	187	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|establishment of nucleus localization (GO:0040023)|inner ear morphogenesis (GO:0042472)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of axon extension (GO:0030517)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of cell proliferation (GO:0008284)|regulation of cell migration (GO:0030334)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)			NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						GATGTACAACCGGCCGCACCG	0.667																																						uc002glw.3		NA																	0					0						c.(559-561)CGG>AGG		netrin 1 precursor							18.0	21.0	20.0					17																	8926249		2198	4296	6494	SO:0001819	synonymous_variant	9423				apoptosis|axon guidance		protein binding	g.chr17:8926249C>A	U75586	CCDS11148.1	17p13-p12	2013-03-01			ENSG00000065320	ENSG00000065320		"""Netrins"""	8029	protein-coding gene	gene with protein product	"""Netrin-1"""	601614				9950216	Standard	NM_004822		Approved	NTN1L	uc002glw.4	O95631	OTTHUMG00000130257	ENST00000173229.2:c.559C>A	17.37:g.8926249C>A							p.R187R	NM_004822	NP_004813	O95631	NET1_HUMAN			2	666	+			187			Laminin N-terminal.		E9KL51	Silent	SNP	ENST00000173229.2	37	c.559C>A	CCDS11148.1																																																																																				0.667	NTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252583.1			4	21	1	0	0.00909568	0.00982103	4	21				
MYH8	4626	broad.mit.edu	37	17	10305003	10305003	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr17:10305003C>G	ENST00000403437.2	-	23	2882	c.2788G>C	c.(2788-2790)Gag>Cag	p.E930Q	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	930					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCCTCCTCCTCAGCTCTTTCA	0.443									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2		NA																	0				skin(6)|ovary(3)|breast(2)	11						c.(2788-2790)GAG>CAG		myosin, heavy chain 8, skeletal muscle,							346.0	334.0	338.0					17																	10305003		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10305003C>G		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2788G>C	17.37:g.10305003C>G	ENSP00000384330:p.Glu930Gln					uc002gml.1_Intron	p.E930Q	NM_002472	NP_002463	P13535	MYH8_HUMAN			23	2883	-			930			Potential.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.2788G>C	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.505476	0.85282	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.86097	-2.07	5.2	5.2	0.72013	.	0.000000	0.42053	U	0.000768	D	0.89262	0.6665	M	0.88310	2.945	0.58432	D	0.999997	B	0.25743	0.133	B	0.31390	0.129	D	0.88196	0.2880	10	0.62326	D	0.03	.	18.9228	0.92532	0.0:1.0:0.0:0.0	.	930	P13535	MYH8_HUMAN	Q	930	ENSP00000384330:E930Q	ENSP00000252173:E930Q	E	-	1	0	MYH8	10245728	1.000000	0.71417	0.979000	0.43373	0.996000	0.88848	7.609000	0.82925	2.720000	0.93068	0.591000	0.81541	GAG		0.443	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		38	273	0	0	0	0	38	273				
ASIC2	40	broad.mit.edu	37	17	31439077	31439077	+	Silent	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr17:31439077T>C	ENST00000359872.6	-	2	1325	c.564A>G	c.(562-564)acA>acG	p.T188T	RP11-40A13.1_ENST00000584688.1_RNA|ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000225823.2_Silent_p.T239T	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	188					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	TCCCATATTTTGTAAACACCT	0.527																																						uc002hhu.2		NA																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(562-564)ACA>ACG		amiloride-sensitive cation channel 1, neuronal	Amiloride(DB00594)						69.0	59.0	62.0					17																	31439077		2203	4300	6503	SO:0001819	synonymous_variant	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:31439077T>C	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.564A>G	17.37:g.31439077T>C						ACCN1_uc002hht.2_Silent_p.T239T	p.T188T	NM_001094	NP_001085	Q16515	ACCN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	2	838	-		Breast(31;0.042)|Ovarian(249;0.202)	188			Extracellular (By similarity).		E9PBX2|Q13553|Q6DJU1|Q8N3E2	Silent	SNP	ENST00000359872.6	37	c.564A>G	CCDS42296.1																																																																																				0.527	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		7	38	0	0	0	0	7	38				
LHX1	3975	broad.mit.edu	37	17	35298160	35298160	+	Silent	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr17:35298160C>A	ENST00000254457.5	+	3	2062	c.651C>A	c.(649-651)acC>acA	p.T217T	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	217					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				CGCAGGAGACCGGCCTCAACA	0.672																																						uc002hnh.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(649-651)ACC>ACA		LIM homeobox protein 1							17.0	19.0	18.0					17																	35298160		2191	4296	6487	SO:0001819	synonymous_variant	3975				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr17:35298160C>A	U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"""Homeoboxes / LIM class"""	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.651C>A	17.37:g.35298160C>A						LHX1_uc010cux.1_Silent_p.T125T	p.T217T	NM_005568	NP_005559	P48742	LHX1_HUMAN			3	1647	+		Breast(25;0.00607)	217			Homeobox.		Q3MIW0	Silent	SNP	ENST00000254457.5	37	c.651C>A	CCDS11316.1																																																																																				0.672	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256704.3	NM_005568		4	13	1	0	0.00909568	0.00982103	4	13				
MED24	9862	broad.mit.edu	37	17	38184186	38184186	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr17:38184186T>A	ENST00000394128.2	-	15	1504	c.1423A>T	c.(1423-1425)Aca>Tca	p.T475S	SNORD124_ENST00000459577.1_RNA|MED24_ENST00000394127.2_Missense_Mutation_p.T462S|MED24_ENST00000356271.3_Missense_Mutation_p.T462S|MED24_ENST00000394126.1_Missense_Mutation_p.T500S|MED24_ENST00000501516.3_Missense_Mutation_p.T494S	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	475					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					CCATAGGTTGTGAATTCATTC	0.577																																						uc002htt.2		NA																	0				ovary(1)	1						c.(1423-1425)ACA>TCA		mediator complex subunit 24 isoform 1							110.0	104.0	106.0					17																	38184186		2203	4300	6503	SO:0001583	missense	9862				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:38184186T>A	AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"""thyroid hormone receptor associated protein 4"", ""cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"""	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.1423A>T	17.37:g.38184186T>A	ENSP00000377686:p.Thr475Ser					MED24_uc010wes.1_Missense_Mutation_p.T335S|MED24_uc010wet.1_Intron|MED24_uc002hts.2_Missense_Mutation_p.T500S|MED24_uc002htu.2_Missense_Mutation_p.T462S|MED24_uc010cwn.2_Missense_Mutation_p.T462S|MED24_uc010weu.1_Missense_Mutation_p.T385S|MED24_uc010wev.1_Missense_Mutation_p.T425S|MED24_uc010wew.1_Missense_Mutation_p.T416S|MED24_uc010wex.1_Missense_Mutation_p.T180S	p.T475S	NM_014815	NP_055630	O75448	MED24_HUMAN			15	1736	-	Colorectal(19;0.000442)		475					A8K4S5|B3KMR9|Q14143|Q9NNY5	Missense_Mutation	SNP	ENST00000394128.2	37	c.1423A>T	CCDS11359.1	.	.	.	.	.	.	.	.	.	.	T	9.947	1.219133	0.22373	.	.	ENSG00000008838	ENST00000394126;ENST00000356271;ENST00000394128;ENST00000535071;ENST00000394127;ENST00000536318;ENST00000431269	T;T;T	0.39592	1.07;1.07;1.07	4.85	4.85	0.62838	Mediator complex, subunit Med24, N-terminal (1);	0.048644	0.85682	D	0.000000	T	0.41096	0.1144	N	0.13098	0.295	0.41553	D	0.988589	B;B;D;B;B;D	0.67145	0.145;0.187;0.996;0.187;0.224;0.974	B;B;D;B;B;D	0.70935	0.111;0.106;0.971;0.073;0.122;0.969	T	0.18241	-1.0343	10	0.06625	T	0.88	-19.5721	13.8018	0.63204	0.0:0.0:0.0:1.0	.	416;425;385;462;475;417	B4DSQ6;F5H5K2;F8W9R9;O75448-2;O75448;F5H0K1	.;.;.;.;MED24_HUMAN;.	S	475;475;475;425;462;417;385	ENSP00000377686:T475S;ENSP00000443344:T425S;ENSP00000377685:T462S	ENSP00000348610:T475S	T	-	1	0	MED24	35437712	1.000000	0.71417	0.995000	0.50966	0.084000	0.17831	3.164000	0.50770	2.046000	0.60703	0.533000	0.62120	ACA		0.577	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2	NM_014815		4	130	0	0	0	0	4	130				
BRCA1	672	broad.mit.edu	37	17	41245558	41245558	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr17:41245558T>C	ENST00000357654.3	-	10	2108	c.1990A>G	c.(1990-1992)Aga>Gga	p.R664G	BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.R664G|BRCA1_ENST00000354071.3_Missense_Mutation_p.R664G|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.R617G|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.R368G|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.R664G|BRCA1_ENST00000351666.3_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	664					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGTAGGTTTCTGCTGTGCCTG	0.393			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												uc002icq.2		NA	yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	D|Mis|N|F|S	familial breast/ovarian cancer gene 1			E		breast|ovarian	ovarian		0				ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52						c.(1990-1992)AGA>GGA	Homologous_recombination	breast cancer 1, early onset isoform 1							117.0	102.0	107.0					17																	41245558		2202	4300	6502	SO:0001583	missense	672	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41245558T>C	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.1990A>G	17.37:g.41245558T>C	ENSP00000350283:p.Arg664Gly	TCGA Ovarian(2;0.000030)				BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.R593G|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.R617G|BRCA1_uc002ict.2_Missense_Mutation_p.R664G|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.R664G|BRCA1_uc002ide.1_Missense_Mutation_p.R495G|BRCA1_uc010cyy.1_Missense_Mutation_p.R664G|BRCA1_uc010whs.1_Missense_Mutation_p.R664G|BRCA1_uc010cyz.2_Missense_Mutation_p.R617G|BRCA1_uc010cza.2_Missense_Mutation_p.R638G|BRCA1_uc010wht.1_Missense_Mutation_p.R368G	p.R664G	NM_007294	NP_009225	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	2222	-		Breast(137;0.000717)	664					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.1990A>G	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	T	15.70	2.911351	0.52439	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795	D;D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22;-2.22;-2.22	5.15	2.85	0.33270	.	0.304205	0.28595	N	0.014782	D	0.91825	0.7413	M	0.84326	2.69	0.29486	N	0.856015	D;D;P;P;B;P	0.63880	0.982;0.993;0.775;0.741;0.046;0.837	P;P;P;P;B;P	0.61070	0.824;0.883;0.593;0.464;0.196;0.541	D	0.87753	0.2593	10	0.87932	D	0	-8.9214	10.8687	0.46870	0.0:0.0:0.3031:0.6969	.	664;623;664;664;664;664	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	G	664;664;664;664;368;664;617	ENSP00000350283:R664G;ENSP00000326002:R664G;ENSP00000246907:R664G;ENSP00000310938:R368G;ENSP00000418960:R664G;ENSP00000418775:R617G	ENSP00000310938:R368G	R	-	1	2	BRCA1	38499084	0.401000	0.25303	0.001000	0.08648	0.737000	0.42083	1.863000	0.39459	0.394000	0.25230	0.459000	0.35465	AGA		0.393	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		16	96	0	0	0	0	16	96				
CDC27	996	broad.mit.edu	37	17	45219297	45219297	+	Silent	SNP	T	T	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr17:45219297T>G	ENST00000066544.3	-	12	1566	c.1473A>C	c.(1471-1473)ctA>ctC	p.L491L	CDC27_ENST00000446365.2_Silent_p.L430L|CDC27_ENST00000527547.1_Silent_p.L490L|CDC27_ENST00000531206.1_Silent_p.L497L	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	491					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GGTGAGAAGGTAGATGGCTCA	0.378																																						uc002ild.3		NA																	0				lung(2)|breast(2)|ovary(1)	5						c.(1471-1473)CTA>CTC		cell division cycle protein 27 isoform 2							114.0	120.0	118.0					17																	45219297		2203	4299	6502	SO:0001819	synonymous_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219297T>G	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1473A>C	17.37:g.45219297T>G						CDC27_uc002ile.3_Silent_p.L497L|CDC27_uc002ilf.3_Silent_p.L490L|CDC27_uc010wkp.1_Silent_p.L430L|CDC27_uc010wkq.1_Intron	p.L491L	NM_001256	NP_001247	P30260	CDC27_HUMAN			12	1600	-			491					G3V1C4|Q16349|Q96F35	Silent	SNP	ENST00000066544.3	37	c.1473A>C	CCDS11509.1																																																																																				0.378	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			4	158	0	0	0	0	4	158				
GRIN2C	2905	broad.mit.edu	37	17	72846860	72846860	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr17:72846860C>G	ENST00000293190.5	-	5	1306	c.1160G>C	c.(1159-1161)tGg>tCg	p.W387S	GRIN2C_ENST00000578159.1_5'Flank|GRIN2C_ENST00000347612.4_Missense_Mutation_p.W387S	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	387					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTAGCGAGGCCACACGGGGTA	0.657																																						uc002jlt.1		NA																	0				ovary(2)|breast(2)	4						c.(1159-1161)TGG>TCG		N-methyl-D-aspartate receptor subunit 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						67.0	47.0	54.0					17																	72846860		2203	4300	6503	SO:0001583	missense	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72846860C>G		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.1160G>C	17.37:g.72846860C>G	ENSP00000293190:p.Trp387Ser					GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Missense_Mutation_p.W387S|GRIN2C_uc002jlv.1_3'UTR	p.W387S	NM_000835	NP_000826	Q14957	NMDE3_HUMAN			5	1316	-	all_lung(278;0.172)|Lung NSC(278;0.207)		387			Extracellular (Potential).		B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	c.1160G>C	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.500886	0.44455	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.06933	3.24	4.28	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.35711	0.0941	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.45205	-0.9277	10	0.87932	D	0	.	16.8807	0.86062	0.0:1.0:0.0:0.0	.	421;387	Q8IW23;Q14957	.;NMDE3_HUMAN	S	387;421	ENSP00000293190:W387S	ENSP00000293190:W387S	W	-	2	0	GRIN2C	70358455	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	7.603000	0.82811	2.373000	0.80994	0.555000	0.69702	TGG		0.657	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			8	19	0	0	0	0	8	19				
PTPRM	5797	broad.mit.edu	37	18	7949203	7949203	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr18:7949203C>T	ENST00000332175.8	+	6	1725	c.688C>T	c.(688-690)Ctg>Ttg	p.L230L	PTPRM_ENST00000400060.4_Silent_p.L230L|PTPRM_ENST00000400053.4_Silent_p.L168L|PTPRM_ENST00000580170.1_Silent_p.L230L|PTPRM_ENST00000444013.1_Silent_p.L17L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	230	Ig-like C2-type.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AGATGCTCCTCTGAAGGAAAT	0.473																																						uc002knn.3		NA																	0				lung(3)|ovary(2)|central_nervous_system(1)	6						c.(688-690)CTG>TTG		protein tyrosine phosphatase, receptor type, M							129.0	115.0	120.0					18																	7949203		2203	4300	6503	SO:0001819	synonymous_variant	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:7949203C>T	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.688C>T	18.37:g.7949203C>T						PTPRM_uc010dkv.2_Silent_p.L230L|PTPRM_uc010wzl.1_Silent_p.L17L	p.L230L	NM_002845	NP_002836	P28827	PTPRM_HUMAN			6	1191	+		Colorectal(10;0.234)	230			Ig-like C2-type.|Extracellular (Potential).		A7MBN1|D3DUH8|J3QL11	Silent	SNP	ENST00000332175.8	37	c.688C>T	CCDS11840.1																																																																																				0.473	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			13	78	0	0	0	0	13	78				
CDH19	28513	broad.mit.edu	37	18	64178851	64178851	+	Silent	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr18:64178851A>T	ENST00000262150.2	-	10	1822	c.1530T>A	c.(1528-1530)tcT>tcA	p.S510S	CDH19_ENST00000540086.1_Intron	NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	1778	Cadherin 5. {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)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TGTCTTCTACAGATAGATTAA	0.308																																						uc002lkc.1		NA																	0				ovary(1)|skin(1)	2						c.(1528-1530)TCT>TCA		cadherin 19, type 2 preproprotein							83.0	84.0	84.0					18																	64178851		2203	4296	6499	SO:0001819	synonymous_variant	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64178851A>T	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.1530T>A	18.37:g.64178851A>T						CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Intron	p.S510S	NM_021153	NP_066976	Q9H159	CAD19_HUMAN			10	1668	-		Esophageal squamous(42;0.0132)	510			Cadherin 5.|Extracellular (Potential).		O15098	Silent	SNP	ENST00000262150.2	37	c.1530T>A	CCDS11994.1																																																																																				0.308	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256219.1	NM_021153		9	30	0	0	0	0	9	30				
CDH19	28513	broad.mit.edu	37	18	64202257	64202257	+	Silent	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr18:64202257A>T	ENST00000540086.1	-	8	1548	c.1302T>A	c.(1300-1302)gcT>gcA	p.A434A	CDH19_ENST00000262150.2_Silent_p.A434A	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	542	Cadherin 4. {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)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GGTTGTACCAAGCACTGATTT	0.323																																						uc002lkc.1		NA																	0				ovary(1)|skin(1)	2						c.(1300-1302)GCT>GCA		cadherin 19, type 2 preproprotein							147.0	137.0	141.0					18																	64202257		2202	4295	6497	SO:0001819	synonymous_variant	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64202257A>T	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.1302T>A	18.37:g.64202257A>T						CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Silent_p.A434A|CDH19_uc002lkd.2_Silent_p.A434A	p.A434A	NM_021153	NP_066976	Q9H159	CAD19_HUMAN			8	1440	-		Esophageal squamous(42;0.0132)	434			Cadherin 4.|Extracellular (Potential).		O15098	Silent	SNP	ENST00000540086.1	37	c.1302T>A	CCDS59325.1																																																																																				0.323	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153		6	28	0	0	0	0	6	28				
DOK6	220164	broad.mit.edu	37	18	67266726	67266726	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr18:67266726G>T	ENST00000382713.5	+	3	471	c.281G>T	c.(280-282)tGt>tTt	p.C94F	RP11-465I4.2_ENST00000583991.1_RNA	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	94	PH.									central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				ACATTTGCCTGTGAGTCAGGT	0.448																																						uc002lkl.2		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(280-282)TGT>TTT		docking protein 6							92.0	70.0	77.0					18																	67266726		2203	4300	6503	SO:0001583	missense	220164						insulin receptor binding	g.chr18:67266726G>T	AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"""Pleckstrin homology (PH) domain containing"""	28301	protein-coding gene	gene with protein product		611402	"""docking protein 5-like"""	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.281G>T	18.37:g.67266726G>T	ENSP00000372160:p.Cys94Phe						p.C94F	NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN			3	471	+		Colorectal(73;0.083)|Esophageal squamous(42;0.131)	94			PH.		A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Missense_Mutation	SNP	ENST00000382713.5	37	c.281G>T	CCDS32841.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628343	0.67015	.	.	ENSG00000206052	ENST00000382713	T	0.72282	-0.64	5.91	5.91	0.95273	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.82669	0.5087	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.78797	-0.2063	10	0.31617	T	0.26	-11.2609	19.2865	0.94077	0.0:0.0:1.0:0.0	.	94	Q6PKX4	DOK6_HUMAN	F	94	ENSP00000372160:C94F	ENSP00000372160:C94F	C	+	2	0	DOK6	65417706	1.000000	0.71417	1.000000	0.80357	0.467000	0.32768	9.827000	0.99397	2.802000	0.96397	0.655000	0.94253	TGT		0.448	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442969.1	NM_152721		5	19	1	0	5.94e-07	7.52e-07	5	19				
HMHA1	23526	broad.mit.edu	37	19	1080953	1080953	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:1080953G>A	ENST00000313093.2	+	17	2311	c.2080G>A	c.(2080-2082)Gag>Aag	p.E694K	HMHA1_ENST00000536472.1_Missense_Mutation_p.E562K|HMHA1_ENST00000539243.2_Missense_Mutation_p.E710K|HMHA1_ENST00000586866.1_Missense_Mutation_p.E698K|HMHA1_ENST00000543365.1_Missense_Mutation_p.E577K|HMHA1_ENST00000590577.1_Missense_Mutation_p.E329K|HMHA1_ENST00000590214.1_Missense_Mutation_p.E721K	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	694					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)		GTTCCGCCACGAGGGGCTGTC	0.692																																						uc002lqz.1		NA																	0				lung(1)	1						c.(2080-2082)GAG>AAG		minor histocompatibility antigen HA-1							15.0	17.0	17.0					19																	1080953		2192	4291	6483	SO:0001583	missense	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1080953G>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.2080G>A	19.37:g.1080953G>A	ENSP00000316772:p.Glu694Lys					HMHA1_uc010xgd.1_Missense_Mutation_p.E710K|HMHA1_uc010xge.1_Missense_Mutation_p.E562K|HMHA1_uc002lra.1_Missense_Mutation_p.E534K|HMHA1_uc002lrb.1_Missense_Mutation_p.E577K|HMHA1_uc002lrc.1_Missense_Mutation_p.E329K|HMHA1_uc002lrd.1_5'Flank|HMHA1_uc010dsd.1_5'Flank	p.E694K	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)	17	2311	+		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)	694					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	37	c.2080G>A	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	g	12.53	1.967080	0.34754	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.20200	2.13;2.14;2.14;2.09	4.19	2.02	0.26589	.	0.310402	0.30483	N	0.009525	T	0.06962	0.0177	N	0.08118	0	0.19575	N	0.999963	P;B;B;B;B	0.41313	0.745;0.016;0.012;0.016;0.005	B;B;B;B;B	0.32393	0.145;0.002;0.002;0.002;0.001	T	0.35051	-0.9804	10	0.15952	T	0.53	-12.5271	7.1398	0.25550	0.2927:0.0:0.7073:0.0	.	562;710;329;577;694	F5H4A3;F6QP70;B3KVA9;F5H1R4;Q92619	.;.;.;.;HMHA1_HUMAN	K	710;694;694;562;688;577	ENSP00000439601:E710K;ENSP00000316772:E694K;ENSP00000445109:E562K;ENSP00000438979:E577K	ENSP00000316772:E694K	E	+	1	0	HMHA1	1031953	0.602000	0.26916	0.943000	0.38184	0.152000	0.21847	0.815000	0.27253	0.252000	0.21531	-0.320000	0.08662	GAG		0.692	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			3	20	0	0	0	0	3	20				
TRIP10	9322	broad.mit.edu	37	19	6746509	6746509	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:6746509G>A	ENST00000313244.9	+	11	1234	c.1199G>A	c.(1198-1200)cGa>cAa	p.R400Q	TRIP10_ENST00000313285.8_Missense_Mutation_p.R344Q|TRIP10_ENST00000596758.1_Missense_Mutation_p.R344Q|TRIP10_ENST00000600428.1_Missense_Mutation_p.R236Q|CTD-3128G10.6_ENST00000594056.1_RNA			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	400	Interaction with CDC42.|Interaction with PDE6G. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						GAGCAGCAGCGAAAACGGCTT	0.547																																						uc002mfs.2		NA																	0				ovary(1)	1						c.(1198-1200)CGA>CAA		thyroid hormone receptor interactor 10							104.0	87.0	93.0					19																	6746509		2203	4300	6503	SO:0001583	missense	9322				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding	g.chr19:6746509G>A	AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"""Cdc42-interacting protein"""	604504	"""salt tolerator"""	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.1199G>A	19.37:g.6746509G>A	ENSP00000320117:p.Arg400Gln					TRIP10_uc010dux.1_Missense_Mutation_p.R344Q|TRIP10_uc002mfr.2_Missense_Mutation_p.R344Q|TRIP10_uc010duy.2_RNA|TRIP10_uc010duz.2_Missense_Mutation_p.R163Q	p.R400Q	NM_004240	NP_004231	Q15642	CIP4_HUMAN			11	1265	+			400			Interaction with CDC42.|Interaction with PDE6G (By similarity).		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Missense_Mutation	SNP	ENST00000313244.9	37	c.1199G>A		.	.	.	.	.	.	.	.	.	.	G	22.7	4.323107	0.81580	.	.	ENSG00000125733	ENST00000313285;ENST00000313244;ENST00000420690	T;T	0.27402	1.67;1.67	5.25	5.25	0.73442	.	0.052887	0.64402	D	0.000001	T	0.59390	0.2190	M	0.82823	2.61	0.39292	D	0.964741	D;D;D	0.89917	1.0;0.998;0.998	D;D;P	0.73708	0.981;0.945;0.899	T	0.67722	-0.5597	10	0.87932	D	0	-18.0145	16.3262	0.82983	0.0:0.0:1.0:0.0	.	344;400;344	G5E9U1;Q15642;Q15642-2	.;CIP4_HUMAN;.	Q	344;400;344	ENSP00000320493:R344Q;ENSP00000320117:R400Q	ENSP00000320117:R400Q	R	+	2	0	TRIP10	6697509	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	6.835000	0.75344	2.455000	0.83008	0.305000	0.20034	CGA		0.547	TRIP10-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000317129.2			10	75	0	0	0	0	10	75				
ARHGEF18	23370	broad.mit.edu	37	19	7506611	7506611	+	Silent	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:7506611G>T	ENST00000359920.6	+	2	868	c.615G>T	c.(613-615)ctG>ctT	p.L205L	CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.C163F|ARHGEF18_ENST00000319670.9_Silent_p.L47L	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	205					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				ATGACTCTCTGTCCCTTACAT	0.458																																						uc002mgi.2		NA																	0				ovary(1)	1						c.(613-615)CTG>CTT		Rho/Rac guanine nucleotide exchange factor 18							155.0	155.0	155.0					19																	7506611		2203	4300	6503	SO:0001819	synonymous_variant	23370				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:7506611G>T	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	17090	protein-coding gene	gene with protein product	"""Rho-specific guanine nucleotide exchange factor p114"""		"""rho/rac guanine nucleotide exchange factor (GEF) 18"""			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.615G>T	19.37:g.7506611G>T						ARHGEF18_uc010xjm.1_Silent_p.L47L|ARHGEF18_uc002mgh.2_Silent_p.L47L	p.L205L	NM_001130955	NP_001124427	Q6ZSZ5	ARHGI_HUMAN			2	868	+		Renal(5;0.0902)	205					A8MV62|B5ME81|O60274|Q6DD92	Silent	SNP	ENST00000359920.6	37	c.615G>T	CCDS45946.1																																																																																				0.458	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		27	96	1	0	2.13e-12	2.99e-12	27	96				
MUC16	94025	broad.mit.edu	37	19	9010683	9010683	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:9010683G>C	ENST00000397910.4	-	38	39181	c.38978C>G	c.(38977-38979)aCc>aGc	p.T12993S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12995					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTCCCTGAGGTCCCAAGGTC	0.512																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(38977-38979)ACC>AGC		mucin 16							86.0	77.0	80.0					19																	9010683		1922	4128	6050	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9010683G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38978C>G	19.37:g.9010683G>C	ENSP00000381008:p.Thr12993Ser					MUC16_uc010xki.1_Intron	p.T12993S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			38	39182	-			12995			Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.38978C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	7.539	0.660233	0.14645	.	.	ENSG00000181143	ENST00000397910;ENST00000441155	T	0.01887	4.58	1.16	1.16	0.20824	.	.	.	.	.	T	0.04363	0.0120	L	0.52905	1.665	.	.	.	D	0.53462	0.96	P	0.50617	0.646	T	0.27706	-1.0066	8	0.87932	D	0	.	5.6776	0.17757	0.0:0.0:1.0:0.0	.	12993	B5ME49	.	S	12993;146	ENSP00000381008:T12993S	ENSP00000381008:T12993S	T	-	2	0	MUC16	8871683	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	-0.095000	0.11077	0.926000	0.37118	0.305000	0.20034	ACC		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		6	26	0	0	0	0	6	26				
KEAP1	9817	broad.mit.edu	37	19	10602622	10602622	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:10602622C>A	ENST00000171111.5	-	3	1503	c.956G>T	c.(955-957)tGc>tTc	p.C319F	KEAP1_ENST00000393623.2_Missense_Mutation_p.C319F|KEAP1_ENST00000588024.1_Intron|CTC-429L19.3_ENST00000592671.1_RNA	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	319					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	GGGCGCCCGGCAGGGCATCAC	0.642																																						uc002moq.1		NA																	0				lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(955-957)TGC>TTC		kelch-like ECH-associated protein 1							34.0	39.0	37.0					19																	10602622		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10602622C>A	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.956G>T	19.37:g.10602622C>A	ENSP00000171111:p.Cys319Phe					KEAP1_uc002mop.1_Missense_Mutation_p.C37F|KEAP1_uc002mor.1_Missense_Mutation_p.C319F	p.C319F	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		3	1112	-			319					B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.956G>T	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	C	7.932	0.740821	0.15642	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.70749	-0.51;-0.51	5.61	5.61	0.85477	.	0.208574	0.51477	D	0.000084	T	0.61615	0.2361	L	0.36672	1.1	0.41073	D	0.985465	B	0.12013	0.005	B	0.13407	0.009	T	0.60707	-0.7210	10	0.87932	D	0	.	12.1376	0.53981	0.171:0.829:0.0:0.0	.	319	Q14145	KEAP1_HUMAN	F	319	ENSP00000171111:C319F;ENSP00000377245:C319F	ENSP00000171111:C319F	C	-	2	0	KEAP1	10463622	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.286000	0.51724	2.656000	0.90262	0.561000	0.74099	TGC		0.642	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		14	34	1	0	9.31e-06	1.15e-05	14	34				
RGL3	57139	broad.mit.edu	37	19	11527319	11527319	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:11527319C>T	ENST00000380456.3	-	4	457	c.394G>A	c.(394-396)Gta>Ata	p.V132I	RGL3_ENST00000393423.3_Missense_Mutation_p.V132I	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	132	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.V132L(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						AGATCTTGTACCGCTGTCTTC	0.567																																					GBM(174;751 2067 17998 27979 33959)	uc002mrp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(394-396)GTA>ATA		ral guanine nucleotide dissociation							116.0	106.0	109.0					19																	11527319		2203	4300	6503	SO:0001583	missense	57139				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		g.chr19:11527319C>T	BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.394G>A	19.37:g.11527319C>T	ENSP00000369823:p.Val132Ile					RGL3_uc002mrn.2_5'UTR|RGL3_uc002mrm.2_5'UTR|RGL3_uc002mro.2_Missense_Mutation_p.V132I|RGL3_uc002mrq.2_3'UTR	p.V132I	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN			4	458	-			132			N-terminal Ras-GEF.		B5ME84|B7ZL22|Q0P6G0	Missense_Mutation	SNP	ENST00000380456.3	37	c.394G>A	CCDS32910.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.998488	0.35226	.	.	ENSG00000205517	ENST00000393423;ENST00000380456;ENST00000453604	T;T	0.47869	0.83;0.83	3.95	3.95	0.45737	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	1.856350	0.02361	N	0.076911	T	0.40222	0.1108	N	0.17082	0.46	0.09310	N	1	P;B	0.35242	0.492;0.139	B;B	0.38225	0.268;0.127	T	0.38415	-0.9662	10	0.27785	T	0.31	.	12.2007	0.54323	0.0:1.0:0.0:0.0	.	132;132	Q3MIN7;B5ME84	RGL3_HUMAN;.	I	132	ENSP00000377075:V132I;ENSP00000369823:V132I	ENSP00000369823:V132I	V	-	1	0	RGL3	11388319	0.004000	0.15560	0.005000	0.12908	0.051000	0.14879	2.029000	0.41098	2.132000	0.65825	0.561000	0.74099	GTA		0.567	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3	XM_290867		23	94	0	0	0	0	23	94				
LPHN1	22859	broad.mit.edu	37	19	14262129	14262129	+	Silent	SNP	A	A	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:14262129A>C	ENST00000340736.6	-	24	4278	c.3981T>G	c.(3979-3981)ggT>ggG	p.G1327G	LPHN1_ENST00000361434.3_Silent_p.G1322G|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1327					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCCGGTCAGCACCCCCGGGCC	0.716																																						uc010xnn.1		NA																	0				ovary(2)|lung(2)|central_nervous_system(1)	5						c.(3979-3981)GGT>GGG		latrophilin 1 isoform 1 precursor							5.0	6.0	6.0					19																	14262129		2111	4119	6230	SO:0001819	synonymous_variant	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14262129A>C	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.3981T>G	19.37:g.14262129A>C						LPHN1_uc010xno.1_Silent_p.G1322G|uc002myf.2_Intron	p.G1327G	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN			24	4277	-			1327			Cytoplasmic (Potential).		Q96IE7|Q9BU07|Q9HAR3	Silent	SNP	ENST00000340736.6	37	c.3981T>G	CCDS32928.1																																																																																				0.716	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		6	11	0	0	0	0	6	11				
ZNF257	113835	broad.mit.edu	37	19	22271482	22271482	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:22271482T>A	ENST00000594947.1	+	4	1074	c.930T>A	c.(928-930)caT>caA	p.H310Q		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	310					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGAGAATTCATACTGGAGAGA	0.408																																						uc010ecx.2		NA																	0					0						c.(928-930)CAT>CAA		zinc finger protein 257							48.0	52.0	51.0					19																	22271482		2139	4267	6406	SO:0001583	missense	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22271482T>A	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.930T>A	19.37:g.22271482T>A	ENSP00000470209:p.His310Gln					ZNF257_uc010ecy.2_Missense_Mutation_p.H278Q	p.H310Q	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN			4	1099	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	310			C2H2-type 5; degenerate.		B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	c.930T>A	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	T	13.05	2.121781	0.37436	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	-0.68	0.11346	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.64170	0.2574	H	0.95884	3.735	0.27043	N	0.963963	D	0.59767	0.986	P	0.53146	0.719	T	0.58171	-0.7683	8	0.87932	D	0	.	2.0831	0.03640	0.2844:0.4193:0.0:0.2963	.	310	Q9Y2Q1	ZN257_HUMAN	Q	310;282	.	ENSP00000380312:H282Q	H	+	3	2	ZNF257	22063322	0.093000	0.21703	0.492000	0.27490	0.199000	0.23934	0.068000	0.14531	0.436000	0.26393	0.260000	0.18958	CAT		0.408	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			4	52	0	0	0	0	4	52				
ZNF99	7652	broad.mit.edu	37	19	22952031	22952031	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:22952031C>G	ENST00000596209.1	-	2	189	c.99G>C	c.(97-99)atG>atC	p.M33I	ZNF99_ENST00000397104.3_Missense_Mutation_p.M54I	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	33	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGTTCTCTAACATAACATTCC	0.393																																						uc010xrh.1		NA																	0				ovary(1)|skin(1)	2						c.(160-162)ATG>ATC		zinc finger protein 99							77.0	84.0	82.0					19																	22952031		2202	4300	6502	SO:0001583	missense	7652							g.chr19:22952031C>G	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.99G>C	19.37:g.22952031C>G	ENSP00000472969:p.Met33Ile						p.M54I	NM_001080409	NP_001073878					2	162	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.162G>C	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	c	11.95	1.792785	0.31685	.	.	ENSG00000213973	ENST00000397104	T	0.03035	4.07	1.05	1.05	0.20165	Krueppel-associated box (4);	.	.	.	.	T	0.11922	0.0290	M	0.89840	3.065	0.09310	N	1	P	0.46395	0.877	P	0.49953	0.627	T	0.07790	-1.0754	9	0.66056	D	0.02	.	5.3627	0.16098	0.0:1.0:0.0:0.0	.	54	A8MXY4	ZNF99_HUMAN	I	54	ENSP00000380293:M54I	ENSP00000380293:M54I	M	-	3	0	ZNF99	22743871	0.517000	0.26226	0.088000	0.20740	0.079000	0.17450	0.286000	0.18902	0.482000	0.27582	0.485000	0.47835	ATG		0.393	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		7	78	0	0	0	0	7	78				
SIRT2	22933	broad.mit.edu	37	19	39390156	39390156	+	Silent	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:39390156T>C	ENST00000249396.7	-	1	307	c.6A>G	c.(4-6)gcA>gcG	p.A2A	NFKBIB_ENST00000572515.1_5'Flank|SIRT2_ENST00000392081.2_5'UTR|SIRT2_ENST00000358931.5_Silent_p.A2A|NFKBIB_ENST00000392079.3_5'Flank|SIRT2_ENST00000481381.1_5'UTR|NFKBIB_ENST00000313582.5_5'Flank	NM_012237.3	NP_036369.2	Q8IXJ6	SIR2_HUMAN	sirtuin 2	2					autophagy (GO:0006914)|cellular lipid catabolic process (GO:0044242)|cellular response to caloric restriction (GO:0061433)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to hypoxia (GO:0071456)|cellular response to molecule of bacterial origin (GO:0071219)|cellular response to oxidative stress (GO:0034599)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|chromatin silencing at telomere (GO:0006348)|gene silencing (GO:0016458)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|innate immune response (GO:0045087)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|myelination in peripheral nervous system (GO:0022011)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)|negative regulation of defense response to bacterium (GO:1900425)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of oligodendrocyte progenitor proliferation (GO:0070446)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cell division (GO:0051781)|positive regulation of DNA binding (GO:0043388)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of meiosis (GO:0045836)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)|protein kinase B signaling (GO:0043491)|regulation of cell cycle (GO:0051726)|regulation of exit from mitosis (GO:0007096)|regulation of myelination (GO:0031641)|regulation of phosphorylation (GO:0042325)|response to redox state (GO:0051775)|ripoptosome assembly involved in necroptotic process (GO:1901026)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)	centriole (GO:0005814)|centrosome (GO:0005813)|chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|glial cell projection (GO:0097386)|juxtaparanode region of axon (GO:0044224)|lateral loop (GO:0043219)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|myelin sheath (GO:0043209)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|spindle (GO:0005819)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|NAD-dependent protein deacetylase activity (GO:0034979)|protein deacetylase activity (GO:0033558)|transcription factor binding (GO:0008134)|tubulin deacetylase activity (GO:0042903)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			GGTCTGGCTCTGCCATGGGCG	0.706																																						uc002ojt.1		NA																	0					0						c.(4-6)GCA>GCG		sirtuin 2 isoform 1							31.0	32.0	31.0					19																	39390156		2203	4299	6502	SO:0001819	synonymous_variant	22933				cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding	g.chr19:39390156T>C	AF083107	CCDS12523.1, CCDS46069.1, CCDS74361.1	19q13	2010-06-25	2010-06-25		ENSG00000068903	ENSG00000068903			10886	protein-coding gene	gene with protein product		604480	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 2"", ""sirtuin (silent mating type information regulation 2 homolog) 2 (S. cerevisiae)"""	SIR2L		10393250, 10381378	Standard	NM_012237		Approved		uc002ojt.2	Q8IXJ6	OTTHUMG00000150480	ENST00000249396.7:c.6A>G	19.37:g.39390156T>C						SIRT2_uc002oju.1_5'UTR|SIRT2_uc010egj.1_5'UTR|SIRT2_uc002ojv.1_Silent_p.A2A|NFKBIB_uc010egk.1_5'Flank|NFKBIB_uc002ojw.2_5'Flank|NFKBIB_uc002ojx.2_5'Flank|NFKBIB_uc002ojy.2_5'Flank	p.A2A	NM_012237	NP_036369	Q8IXJ6	SIRT2_HUMAN	Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)		1	206	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		2					A8K3V1|B2RB45|O95889|Q924Y7|Q9P0G8|Q9UNT0|Q9Y6E9|U5TP13	Silent	SNP	ENST00000249396.7	37	c.6A>G	CCDS12523.1																																																																																				0.706	SIRT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318278.1			12	34	0	0	0	0	12	34				
MEGF8	1954	broad.mit.edu	37	19	42860263	42860263	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:42860263G>A	ENST00000251268.6	+	25	4421	c.4421G>A	c.(4420-4422)gGc>gAc	p.G1474D	MEGF8_ENST00000334370.4_Missense_Mutation_p.G1407D	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1474					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TGTGCCGAGGGCTTCGGGGGC	0.672																																						uc002otl.3		NA																	0				ovary(1)	1						c.(4219-4221)GGC>GAC		multiple EGF-like-domains 8							38.0	36.0	37.0					19																	42860263		2202	4296	6498	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42860263G>A	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.4421G>A	19.37:g.42860263G>A	ENSP00000251268:p.Gly1474Asp					MEGF8_uc002otm.3_Missense_Mutation_p.G1015D	p.G1407D	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN			24	4855	+		Prostate(69;0.00682)	1474			Extracellular (Potential).		A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.4220G>A		.	.	.	.	.	.	.	.	.	.	G	13.11	2.139544	0.37728	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.24151	1.9;1.87	4.72	4.72	0.59763	EGF-like region, conserved site (2);	0.370408	0.25332	N	0.031429	T	0.43433	0.1247	L	0.49126	1.545	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.93;0.998	T	0.12967	-1.0527	10	0.41790	T	0.15	-24.2293	13.0173	0.58764	0.0:0.1634:0.8366:0.0	.	1474;1407	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	D	1407;1474	ENSP00000334219:G1407D;ENSP00000251268:G1474D	ENSP00000251268:G1474D	G	+	2	0	MEGF8	47552103	1.000000	0.71417	1.000000	0.80357	0.066000	0.16364	2.607000	0.46300	2.468000	0.83385	0.563000	0.77884	GGC		0.672	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		9	13	0	0	0	0	9	13				
PSG7	5676	broad.mit.edu	37	19	43439857	43439857	+	RNA	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:43439857T>C	ENST00000406070.2	-	0	225				PSG7_ENST00000446844.3_RNA|PSG7_ENST00000471557.1_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				CGGAAACTTTTGGTGGCTGGG	0.493																																						uc002ovl.3		NA																	0					0						c.(127-129)CCA>CCG		pregnancy specific beta-1-glycoprotein 7							138.0	145.0	142.0					19																	43439857		2201	4299	6500			5676				female pregnancy	extracellular region		g.chr19:43439857T>C			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439857T>C						PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Intron	p.P43P	NM_002783	NP_002774	Q13046	PSG7_HUMAN			2	231	-		Prostate(69;0.00682)	43			Ig-like V-type.		Q15232	Silent	SNP	ENST00000406070.2	37	c.129A>G																																																																																					0.493	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		27	167	0	0	0	0	27	167				
DHX34	9704	broad.mit.edu	37	19	47863303	47863303	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:47863303G>T	ENST00000328771.4	+	5	1700	c.1351G>T	c.(1351-1353)Ggg>Tgg	p.G451W	DHX34_ENST00000471451.1_3'UTR	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	451	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CACCATTGACGGGATCCGCTT	0.592																																						uc010xyn.1		NA																	0				ovary(4)|upper_aerodigestive_tract(1)	5						c.(1351-1353)GGG>TGG		DEAH (Asp-Glu-Ala-His) box polypeptide 34							164.0	141.0	149.0					19																	47863303		2203	4300	6503	SO:0001583	missense	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47863303G>T	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.1351G>T	19.37:g.47863303G>T	ENSP00000331907:p.Gly451Trp					DHX34_uc010elc.1_Missense_Mutation_p.G366W	p.G451W	NM_014681	NP_055496	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	5	1692	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	451			Helicase C-terminal.		B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	c.1351G>T	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733955	0.69189	.	.	ENSG00000134815	ENST00000328771;ENST00000257252	T	0.03468	3.92	5.34	5.34	0.76211	Helicase, C-terminal (3);	0.000000	0.64402	D	0.000008	T	0.37732	0.1014	H	0.99498	4.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65804	-0.6079	10	0.87932	D	0	-48.6279	17.8074	0.88605	0.0:0.0:1.0:0.0	.	451	Q14147	DHX34_HUMAN	W	451;366	ENSP00000331907:G451W	ENSP00000257252:G366W	G	+	1	0	DHX34	52555144	1.000000	0.71417	0.991000	0.47740	0.244000	0.25665	9.437000	0.97535	2.519000	0.84933	0.563000	0.77884	GGG		0.592	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		33	100	1	0	2.08e-15	3e-15	33	100				
CRX	1406	broad.mit.edu	37	19	48337742	48337742	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:48337742C>T	ENST00000221996.7	+	2	248	c.42C>T	c.(40-42)aaC>aaT	p.N14N	CRX_ENST00000539067.1_Silent_p.N14N|TPRX2P_ENST00000535362.1_Silent_p.N14N	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	14					circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		ATTCTGTCAACGCCTTGGCCC	0.587																																					Pancreas(57;461 1196 22201 40716 47188)	uc002phq.3		NA																	0				breast(1)|central_nervous_system(1)	2						c.(40-42)AAC>AAT		cone-rod homeobox protein							87.0	75.0	79.0					19																	48337742		2203	4300	6503	SO:0001819	synonymous_variant	1406				organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48337742C>T	AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"""Homeoboxes / PRD class"""	2383	protein-coding gene	gene with protein product	"""orthodenticle homeobox 3"""	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.42C>T	19.37:g.48337742C>T						CRX_uc010elm.1_Intron	p.N14N	NM_000554	NP_000545	O43186	CRX_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)	2	246	+		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	14					Q0QD45	Silent	SNP	ENST00000221996.7	37	c.42C>T	CCDS12706.1																																																																																				0.587	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409812.4	NM_000554		16	50	0	0	0	0	16	50				
ZNF114	163071	broad.mit.edu	37	19	48785741	48785741	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:48785741C>T	ENST00000595607.1	+	5	617	c.123C>T	c.(121-123)aaC>aaT	p.N41N	ZNF114_ENST00000315849.1_Silent_p.N41N|ZNF114_ENST00000600687.1_Silent_p.N41N|ZNF114_ENST00000597695.1_Silent_p.N7N			Q8NC26	ZN114_HUMAN	zinc finger protein 114	41	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		ATTCTAGGAACTTGGCATTCA	0.527																																						uc002pil.1		NA																	0					0						c.(121-123)AAC>AAT		zinc finger protein 114							108.0	111.0	110.0					19																	48785741		2203	4300	6503	SO:0001819	synonymous_variant	163071				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:48785741C>T	BC014935	CCDS12713.1, CCDS74412.1	19q13.32	2013-01-08			ENSG00000178150	ENSG00000178150		"""Zinc fingers, C2H2-type"", ""-"""	12894	protein-coding gene	gene with protein product		603996					Standard	XM_005258580		Approved	MGC17986	uc002pim.1	Q8NC26		ENST00000595607.1:c.123C>T	19.37:g.48785741C>T						ZNF114_uc010elv.1_Silent_p.N41N|ZNF114_uc002pim.1_Silent_p.N41N|ZNF114_uc002pin.2_Silent_p.N7N	p.N41N	NM_153608	NP_705836	Q8NC26	ZN114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)	5	620	+		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	41			KRAB.		A8K6B0|Q08AQ6	Silent	SNP	ENST00000595607.1	37	c.123C>T	CCDS12713.1																																																																																				0.527	ZNF114-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465601.1	NM_153608		13	113	0	0	0	0	13	113				
PPP1R15A	23645	broad.mit.edu	37	19	49377451	49377451	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:49377451G>A	ENST00000200453.5	+	2	1230	c.961G>A	c.(961-963)Gag>Aag	p.E321K		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	321	Glu-rich.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		GGGGGCAGCTGAGAAGGATGG	0.612																																						uc002pky.3		NA																	0				lung(1)	1						c.(961-963)GAG>AAG		protein phosphatase 1, regulatory subunit 15A							77.0	81.0	79.0					19																	49377451		2203	4300	6503	SO:0001583	missense	23645				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	g.chr19:49377451G>A	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14375	protein-coding gene	gene with protein product	"""growth arrest and DNA-damage-inducible 34"""	611048	"""protein phosphatase 1, regulatory (inhibitor) subunit 15A"""			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.961G>A	19.37:g.49377451G>A	ENSP00000200453:p.Glu321Lys						p.E321K	NM_014330	NP_055145	O75807	PR15A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)	2	1230	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	321			Glu-rich.		B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	c.961G>A	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.376883	0.61735	.	.	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.04917	3.53	4.77	3.73	0.42828	.	0.179339	0.33346	N	0.005014	T	0.06142	0.0159	L	0.52573	1.65	0.22701	N	0.998839	B	0.33266	0.404	B	0.27715	0.082	T	0.32745	-0.9895	10	0.24483	T	0.36	-1.589	9.5585	0.39355	0.0992:0.0:0.9008:0.0	.	321	O75807	PR15A_HUMAN	K	321;161;279	ENSP00000200453:E321K	ENSP00000200453:E321K	E	+	1	0	PPP1R15A	54069263	0.042000	0.20092	0.461000	0.27105	0.339000	0.28857	0.840000	0.27600	1.137000	0.42214	0.650000	0.86243	GAG		0.612	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		14	60	0	0	0	0	14	60				
SYT3	84258	broad.mit.edu	37	19	51133412	51133412	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:51133412G>A	ENST00000338916.4	-	3	1324	c.691C>T	c.(691-693)Cga>Tga	p.R231*	SYT3_ENST00000544769.1_Nonsense_Mutation_p.R231*|SYT3_ENST00000600079.1_Nonsense_Mutation_p.R231*|SYT3_ENST00000593901.1_Nonsense_Mutation_p.R231*	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	231					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GTGAGGGGTCGGGGCAGGGCT	0.657																																						uc002pst.2		NA																	0				ovary(2)|breast(1)	3						c.(691-693)CGA>TGA		synaptotagmin III							12.0	13.0	13.0					19																	51133412		2201	4290	6491	SO:0001587	stop_gained	84258					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:51133412G>A	AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.691C>T	19.37:g.51133412G>A	ENSP00000340914:p.Arg231*					SYT3_uc002psv.2_Nonsense_Mutation_p.R231*|SYT3_uc010ycd.1_Nonsense_Mutation_p.R231*	p.R231*	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)	3	1325	-		all_neural(266;0.131)	231			Cytoplasmic (Potential).		Q8N5Z1|Q8N640	Nonsense_Mutation	SNP	ENST00000338916.4	37	c.691C>T	CCDS12798.1	.	.	.	.	.	.	.	.	.	.	G	43	10.254935	0.99369	.	.	ENSG00000213023	ENST00000338916;ENST00000544769	.	.	.	4.29	3.21	0.36854	.	0.323009	0.19544	U	0.111734	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.7986	0.46474	0.0:0.0:0.8096:0.1904	.	.	.	.	X	231	.	ENSP00000340914:R231X	R	-	1	2	SYT3	55825224	0.718000	0.27976	0.998000	0.56505	0.998000	0.95712	1.416000	0.34759	1.107000	0.41642	0.655000	0.94253	CGA		0.657	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	NM_032298		18	16	0	0	0	0	18	16				
ZNF615	284370	broad.mit.edu	37	19	52496489	52496489	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:52496489G>T	ENST00000602063.1	-	6	2189	c.1840C>A	c.(1840-1842)Cat>Aat	p.H614N	ZNF615_ENST00000598071.1_Missense_Mutation_p.H625N|ZNF615_ENST00000391795.3_Missense_Mutation_p.H619N|ZNF615_ENST00000594083.1_Missense_Mutation_p.H625N|ZNF615_ENST00000376716.5_Missense_Mutation_p.H614N			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	614					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GTTTGCTGATGTATACTGAGA	0.413																																						uc002pye.1		NA																	0				ovary(4)|skin(1)	5						c.(1840-1842)CAT>AAT		zinc finger protein 615							122.0	117.0	119.0					19																	52496489		2203	4300	6503	SO:0001583	missense	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52496489G>T	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1840C>A	19.37:g.52496489G>T	ENSP00000473089:p.His614Asn					ZNF615_uc002pyf.1_Missense_Mutation_p.H625N|ZNF615_uc002pyg.1_Missense_Mutation_p.H506N|ZNF615_uc002pyh.1_Missense_Mutation_p.H625N|ZNF615_uc010epi.1_Missense_Mutation_p.H621N|ZNF615_uc010ydg.1_Missense_Mutation_p.H619N	p.H614N	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	2132	-		all_neural(266;0.117)	614			C2H2-type 15.		B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	c.1840C>A	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.238074	0.39598	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	D;D	0.86865	-2.18;-2.18	3.23	2.19	0.27852	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94082	0.8103	M	0.94063	3.49	0.26320	N	0.977696	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.70487	0.969;0.948;0.948;0.969	D	0.85887	0.1426	9	0.87932	D	0	.	9.5503	0.39306	0.1101:0.0:0.8899:0.0	.	619;621;625;614	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	N	614;624;619;568	ENSP00000365906:H614N;ENSP00000375672:H619N	ENSP00000347019:H624N	H	-	1	0	ZNF615	57188301	1.000000	0.71417	0.750000	0.31169	0.717000	0.41224	4.365000	0.59486	0.691000	0.31592	0.655000	0.94253	CAT		0.413	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		13	92	1	0	1.58e-08	2.1e-08	13	92				
ZNF528	84436	broad.mit.edu	37	19	52919017	52919017	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:52919017G>T	ENST00000360465.3	+	7	1338	c.912G>T	c.(910-912)aaG>aaT	p.K304N	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	304					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		AATGTGACAAGGTCTTCAATC	0.383																																						uc002pzh.2		NA																	0				ovary(1)|skin(1)	2						c.(910-912)AAG>AAT		zinc finger protein 528							66.0	70.0	68.0					19																	52919017		2203	4300	6503	SO:0001583	missense	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52919017G>T	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.912G>T	19.37:g.52919017G>T	ENSP00000353652:p.Lys304Asn					ZNF528_uc002pzi.2_Missense_Mutation_p.K71N	p.K304N	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	7	1338	+			304			C2H2-type 4.		B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	c.912G>T	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.866418	0.32977	.	.	ENSG00000167555	ENST00000360465	T	0.07908	3.15	1.99	-2.99	0.05497	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30166	0.0756	M	0.92459	3.31	0.09310	N	1	D	0.89917	1.0	D	0.74023	0.982	T	0.04565	-1.0942	9	0.72032	D	0.01	.	7.5257	0.27653	0.6719:0.0:0.3281:0.0	.	304	Q3MIS6	ZN528_HUMAN	N	304	ENSP00000353652:K304N	ENSP00000353652:K304N	K	+	3	2	ZNF528	57610829	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.020000	0.13466	-0.761000	0.04670	-0.469000	0.05056	AAG		0.383	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		11	61	1	0	3.86e-05	4.64e-05	11	61				
NLRP12	91662	broad.mit.edu	37	19	54314216	54314216	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:54314216C>A	ENST00000324134.6	-	3	865	c.697G>T	c.(697-699)Gac>Tac	p.D233Y	NLRP12_ENST00000391775.3_Missense_Mutation_p.D233Y|NLRP12_ENST00000535162.1_Missense_Mutation_p.D233Y|NLRP12_ENST00000354278.3_Missense_Mutation_p.D233Y|NLRP12_ENST00000345770.5_Missense_Mutation_p.D233Y|NLRP12_ENST00000351894.4_Missense_Mutation_p.D233Y|NLRP12_ENST00000391773.1_Missense_Mutation_p.D233Y|NLRP12_ENST00000391772.1_Missense_Mutation_p.D233Y	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	233	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCCGCCCAGTCCAGCATCACC	0.582																																						uc002qch.3		NA																	0				ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(697-699)GAC>TAC		NLR family, pyrin domain containing 12 isoform							85.0	63.0	71.0					19																	54314216		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54314216C>A	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.697G>T	19.37:g.54314216C>A	ENSP00000319377:p.Asp233Tyr					NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.D233Y|NLRP12_uc002qcj.3_Missense_Mutation_p.D233Y|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.D233Y	p.D233Y	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	917	-	Ovarian(34;0.19)		233			NACHT.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.697G>T	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.992125	0.74703	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	4.47	4.47	0.54385	NACHT nucleoside triphosphatase (1);	0.000000	0.45867	D	0.000333	D	0.93252	0.7850	H	0.94345	3.525	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.998	D	0.95057	0.8192	10	0.87932	D	0	.	15.0639	0.71977	0.0:1.0:0.0:0.0	.	233;233;233;233	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	Y	233	ENSP00000319377:D233Y;ENSP00000438030:D233Y;ENSP00000340473:D233Y;ENSP00000346231:D233Y;ENSP00000375655:D233Y;ENSP00000375653:D233Y;ENSP00000375652:D233Y	ENSP00000319377:D233Y	D	-	1	0	NLRP12	59006028	1.000000	0.71417	0.995000	0.50966	0.968000	0.65278	5.089000	0.64492	2.228000	0.72767	0.306000	0.20318	GAC		0.582	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		15	55	1	0	1.36e-06	1.71e-06	15	55				
NLRP12	91662	broad.mit.edu	37	19	54314237	54314237	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:54314237G>C	ENST00000324134.6	-	3	844	c.676C>G	c.(676-678)Ctg>Gtg	p.L226V	NLRP12_ENST00000391775.3_Missense_Mutation_p.L226V|NLRP12_ENST00000535162.1_Missense_Mutation_p.L226V|NLRP12_ENST00000354278.3_Missense_Mutation_p.L226V|NLRP12_ENST00000345770.5_Missense_Mutation_p.L226V|NLRP12_ENST00000351894.4_Missense_Mutation_p.L226V|NLRP12_ENST00000391773.1_Missense_Mutation_p.L226V|NLRP12_ENST00000391772.1_Missense_Mutation_p.L226V	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	226	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TTGTGTGCCAGCATGGACTTG	0.582																																						uc002qch.3		NA																	0				ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(676-678)CTG>GTG		NLR family, pyrin domain containing 12 isoform							93.0	71.0	78.0					19																	54314237		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54314237G>C	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.676C>G	19.37:g.54314237G>C	ENSP00000319377:p.Leu226Val					NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.L226V|NLRP12_uc002qcj.3_Missense_Mutation_p.L226V|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.L226V	p.L226V	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	896	-	Ovarian(34;0.19)		226			NACHT.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.676C>G	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995243	0.54147	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23	4.47	0.882	0.19172	NACHT nucleoside triphosphatase (1);	0.000000	0.33813	N	0.004540	D	0.90120	0.6913	M	0.70108	2.13	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.998;0.999	D	0.86599	0.1865	10	0.87932	D	0	.	4.4974	0.11844	0.2837:0.164:0.5523:0.0	.	226;226;226;226	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	V	226	ENSP00000319377:L226V;ENSP00000438030:L226V;ENSP00000340473:L226V;ENSP00000346231:L226V;ENSP00000375655:L226V;ENSP00000375653:L226V;ENSP00000375652:L226V	ENSP00000319377:L226V	L	-	1	2	NLRP12	59006049	0.013000	0.17824	0.997000	0.53966	0.866000	0.49608	0.103000	0.15292	0.076000	0.16826	0.306000	0.20318	CTG		0.582	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		16	68	0	0	0	0	16	68				
PRKCG	5582	broad.mit.edu	37	19	54403990	54403990	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:54403990A>G	ENST00000263431.3	+	14	1844	c.1562A>G	c.(1561-1563)tAc>tGc	p.Y521C	PRKCG_ENST00000542049.1_Missense_Mutation_p.Y408C|PRKCG_ENST00000540413.1_Missense_Mutation_p.Y521C	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	521	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	ACCCCGGACTACATAGCCCCG	0.577																																						uc002qcq.1		NA																	0		p.Y521N(1)		lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9						c.(1561-1563)TAC>TGC		protein kinase C, gamma							186.0	194.0	191.0					19																	54403990		2203	4300	6503	SO:0001583	missense	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54403990A>G	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.1562A>G	19.37:g.54403990A>G	ENSP00000263431:p.Tyr521Cys					PRKCG_uc010yeg.1_Missense_Mutation_p.Y521C|PRKCG_uc010yeh.1_Missense_Mutation_p.Y408C	p.Y521C	NM_002739	NP_002730	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	14	1844	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		521			Protein kinase.		B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	c.1562A>G	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	A	19.23	3.786933	0.70337	.	.	ENSG00000126583	ENST00000540413;ENST00000263431;ENST00000542049	T;T;T	0.57907	0.37;0.37;0.37	4.24	4.24	0.50183	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.76898	0.4052	M	0.93016	3.37	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	T	0.82257	-0.0547	9	0.87932	D	0	.	11.6212	0.51119	1.0:0.0:0.0:0.0	.	408;521;521	B7Z8Q0;F5H5C4;P05129	.;.;KPCG_HUMAN	C	521;521;408	ENSP00000443493:Y521C;ENSP00000263431:Y521C;ENSP00000438090:Y408C	ENSP00000263431:Y521C	Y	+	2	0	PRKCG	59095802	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.103000	0.94232	1.699000	0.51192	0.379000	0.24179	TAC		0.577	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		68	265	0	0	0	0	68	265				
GP6	51206	broad.mit.edu	37	19	55538970	55538970	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr19:55538970C>A	ENST00000417454.1	-	4	613	c.586G>T	c.(586-588)Gac>Tac	p.D196Y	CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA|CTC-550B14.6_ENST00000585492.1_RNA|GP6_ENST00000333884.2_Missense_Mutation_p.D196Y|GP6_ENST00000310373.3_Missense_Mutation_p.D196Y|CTC-550B14.7_ENST00000586961.1_RNA	NM_016363.4	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	196	Ig-like C2-type 2.				blood coagulation (GO:0007596)|enzyme linked receptor protein signaling pathway (GO:0007167)|leukocyte migration (GO:0050900)|platelet activation (GO:0030168)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	collagen binding (GO:0005518)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		TCCAGGGGGTCGCTGGGGGCT	0.587																																						uc002qik.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(586-588)GAC>TAC		glycoprotein VI (platelet) isoform 2							53.0	60.0	58.0					19																	55538970		1932	4176	6108	SO:0001583	missense	51206				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity	g.chr19:55538970C>A	AB035073	CCDS42626.1, CCDS46184.1, CCDS58678.1	19q13.4	2013-01-29			ENSG00000088053	ENSG00000088053		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14388	protein-coding gene	gene with protein product		605546				11027634	Standard	NM_001083899		Approved	GPVI	uc002qil.3	Q9HCN6	OTTHUMG00000159709	ENST00000417454.1:c.586G>T	19.37:g.55538970C>A	ENSP00000394922:p.Asp196Tyr					GP6_uc002qil.2_Missense_Mutation_p.D196Y|GP6_uc010esq.2_Missense_Mutation_p.D196Y|RDH13_uc010esr.1_RNA	p.D196Y	NM_016363	NP_057447	Q9HCN6	GPVI_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)	4	614	-			196			Ig-like C2-type 2.|Extracellular (Potential).		Q9HCN7|Q9UIF2	Missense_Mutation	SNP	ENST00000417454.1	37	c.586G>T	CCDS46184.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896865	0.52121	.	.	ENSG00000088053	ENST00000417454;ENST00000310373;ENST00000333884	T;T;T	0.01051	5.4;5.4;5.4	3.99	0.658	0.17855	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.05686	0.0149	M	0.87038	2.855	0.33608	D	0.603185	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.69654	0.95;0.965;0.964	T	0.12682	-1.0538	9	0.87932	D	0	.	5.9982	0.19505	0.0:0.66:0.0:0.34	.	196;196;196	Q9HCN6-2;Q9HCN6-3;Q9HCN6	.;.;GPVI_HUMAN	Y	196	ENSP00000394922:D196Y;ENSP00000308782:D196Y;ENSP00000334552:D196Y	ENSP00000308782:D196Y	D	-	1	0	GP6	60230782	0.239000	0.23836	0.819000	0.32651	0.478000	0.33099	-0.197000	0.09518	0.140000	0.18849	0.555000	0.69702	GAC		0.587	GP6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357006.1			7	98	1	0	1.07e-07	1.39e-07	7	98				
ITSN2	50618	broad.mit.edu	37	2	24484540	24484540	+	Silent	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:24484540T>A	ENST00000355123.4	-	21	2870	c.2427A>T	c.(2425-2427)ccA>ccT	p.P809P	ITSN2_ENST00000361999.3_Silent_p.P782P|ITSN2_ENST00000406921.3_Silent_p.P809P	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	809	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATAATTGCATGGAAACCAGC	0.368																																						uc002rfe.2		NA																	0				kidney(2)|ovary(1)|central_nervous_system(1)	4						c.(2425-2427)CCA>CCT		intersectin 2 isoform 1							103.0	104.0	103.0					2																	24484540		2203	4300	6503	SO:0001819	synonymous_variant	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24484540T>A	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.2427A>T	2.37:g.24484540T>A						ITSN2_uc002rff.2_Silent_p.P782P|ITSN2_uc002rfg.2_Silent_p.P809P	p.P809P	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN			21	2685	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		809			SH3 1.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Silent	SNP	ENST00000355123.4	37	c.2427A>T	CCDS1710.2																																																																																				0.368	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		7	37	0	0	0	0	7	37				
OTOF	9381	broad.mit.edu	37	2	26687858	26687858	+	Silent	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:26687858G>A	ENST00000272371.2	-	39	4965	c.4839C>T	c.(4837-4839)agC>agT	p.S1613S	OTOF_ENST00000402415.3_Silent_p.S923S|OTOF_ENST00000339598.3_Silent_p.S846S|OTOF_ENST00000338581.6_Silent_p.S846S|OTOF_ENST00000403946.3_Silent_p.S1613S	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1613					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAGGATCTGGCTGGGCTTCA	0.627																																					GBM(102;732 1451 20652 24062 31372)	uc002rhk.2		NA																	0				ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7						c.(4837-4839)AGC>AGT		otoferlin isoform a							35.0	43.0	40.0					2																	26687858		2203	4300	6503	SO:0001819	synonymous_variant	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26687858G>A	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.4839C>T	2.37:g.26687858G>A						OTOF_uc010yla.1_Silent_p.S343S|OTOF_uc002rhh.2_Silent_p.S846S|OTOF_uc002rhi.2_Silent_p.S923S|OTOF_uc002rhj.2_Silent_p.S846S	p.S1613S	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN			39	4966	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1613			Cytoplasmic (Potential).		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	ENST00000272371.2	37	c.4839C>T	CCDS1725.1																																																																																				0.627	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			8	45	0	0	0	0	8	45				
NRBP1	29959	broad.mit.edu	37	2	27663754	27663754	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:27663754C>T	ENST00000233557.3	+	15	2108	c.1276C>T	c.(1276-1278)Ccc>Tcc	p.P426S	NRBP1_ENST00000379863.3_Missense_Mutation_p.P434S|KRTCAP3_ENST00000288873.3_5'Flank|NRBP1_ENST00000379852.3_Missense_Mutation_p.P426S|KRTCAP3_ENST00000543753.1_5'Flank|KRTCAP3_ENST00000407293.1_5'Flank			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	426					ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					ACCTGTCGTGCCCCCCTCTGT	0.602																																						uc002rko.2		NA																	0				ovary(2)|lung(1)	3						c.(1276-1278)CCC>TCC		nuclear receptor binding protein							57.0	58.0	58.0					2																	27663754		2203	4300	6503	SO:0001583	missense	29959				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity	g.chr2:27663754C>T	AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"""nuclear receptor binding protein"""	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.1276C>T	2.37:g.27663754C>T	ENSP00000233557:p.Pro426Ser					NRBP1_uc002rkq.2_Missense_Mutation_p.P425S|NRBP1_uc002rkp.2_Missense_Mutation_p.P426S|NRBP1_uc002rkr.2_Missense_Mutation_p.P217S|KRTCAP3_uc002rks.2_5'Flank|KRTCAP3_uc010ylr.1_5'Flank|KRTCAP3_uc002rkt.2_5'Flank	p.P426S	NM_013392	NP_037524	Q9UHY1	NRBP_HUMAN			15	2108	+	Acute lymphoblastic leukemia(172;0.155)		426					B3KV40|D6W558|Q53FZ5|Q96SU3	Missense_Mutation	SNP	ENST00000233557.3	37	c.1276C>T	CCDS1753.1	.	.	.	.	.	.	.	.	.	.	C	9.721	1.159675	0.21454	.	.	ENSG00000115216	ENST00000233557;ENST00000421823;ENST00000379852;ENST00000379863	T;T;T	0.28895	1.59;1.59;1.59	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.22126	0.0533	N	0.16368	0.405	0.51767	D	0.99993	B;B;B	0.28439	0.212;0.007;0.013	B;B;B	0.27380	0.079;0.01;0.004	T	0.06180	-1.0841	10	0.17832	T	0.49	-11.3285	18.9284	0.92554	0.0:1.0:0.0:0.0	.	406;434;426	B4DW31;F8W6G1;Q9UHY1	.;.;NRBP_HUMAN	S	426;406;426;434	ENSP00000233557:P426S;ENSP00000369181:P426S;ENSP00000369192:P434S	ENSP00000233557:P426S	P	+	1	0	NRBP1	27517258	0.936000	0.31750	0.999000	0.59377	0.875000	0.50365	2.170000	0.42443	2.821000	0.97095	0.561000	0.74099	CCC		0.602	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1	NM_013392		12	76	0	0	0	0	12	76				
EHD3	30845	broad.mit.edu	37	2	31483477	31483477	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:31483477G>T	ENST00000322054.5	+	4	889	c.604G>T	c.(604-606)Gaa>Taa	p.E202*	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	202	Dynamin-type G.				blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					TGAGTTCTCAGAAGTCATCAA	0.537																																						uc002rnu.2		NA																	0				skin(2)	2						c.(604-606)GAA>TAA		EH-domain containing 3							84.0	77.0	80.0					2																	31483477		2203	4300	6503	SO:0001587	stop_gained	30845				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31483477G>T	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.604G>T	2.37:g.31483477G>T	ENSP00000327116:p.Glu202*					EHD3_uc010ymt.1_Intron	p.E202*	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN			4	1212	+	Acute lymphoblastic leukemia(172;0.155)		202			Potential.		B4DFR5|D6W574|Q8N514|Q9NZB3	Nonsense_Mutation	SNP	ENST00000322054.5	37	c.604G>T	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	G	40	8.002165	0.98605	.	.	ENSG00000013016	ENST00000322054	.	.	.	5.15	5.15	0.70609	.	0.043334	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-19.8112	18.813	0.92065	0.0:0.0:1.0:0.0	.	.	.	.	X	202	.	ENSP00000327116:E202X	E	+	1	0	EHD3	31336981	1.000000	0.71417	0.532000	0.27989	0.991000	0.79684	7.709000	0.84645	2.667000	0.90743	0.561000	0.74099	GAA		0.537	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600		17	39	1	0	2e-07	2.56e-07	17	39				
XDH	7498	broad.mit.edu	37	2	31598336	31598336	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:31598336C>A	ENST00000379416.3	-	15	1560	c.1512G>T	c.(1510-1512)atG>atT	p.M504I		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	504					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	GGAAGTCCACCATGCCACCAG	0.607																																					Colon(66;682 1445 30109 40147)	uc002rnv.1		NA																	0				skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8						c.(1510-1512)ATG>ATT		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						88.0	82.0	84.0					2																	31598336		2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31598336C>A	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.1512G>T	2.37:g.31598336C>A	ENSP00000368727:p.Met504Ile						p.M504I	NM_000379	NP_000370	P47989	XDH_HUMAN			15	1591	-	Acute lymphoblastic leukemia(172;0.155)		504					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.1512G>T	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.923128	0.92319	.	.	ENSG00000158125	ENST00000379416	T	0.25912	1.77	5.32	5.32	0.75619	Xanthine dehydrogenase, small subunit (1);CO dehydrogenase flavoprotein, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.60274	0.2256	M	0.92923	3.36	0.80722	D	1	P	0.50617	0.937	P	0.61201	0.885	T	0.70612	-0.4824	10	0.72032	D	0.01	.	18.6094	0.91279	0.0:1.0:0.0:0.0	.	504	P47989	XDH_HUMAN	I	504	ENSP00000368727:M504I	ENSP00000368727:M504I	M	-	3	0	XDH	31451840	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	5.907000	0.69908	2.492000	0.84095	0.655000	0.94253	ATG		0.607	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		20	72	1	0	1.56e-12	2.2e-12	20	72				
VIT	5212	broad.mit.edu	37	2	36982161	36982161	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:36982161T>G	ENST00000389975.3	+	5	675	c.373T>G	c.(373-375)Tcc>Gcc	p.S125A	VIT_ENST00000457137.2_Missense_Mutation_p.S125A|VIT_ENST00000404084.1_Missense_Mutation_p.S103A|VIT_ENST00000379241.3_Missense_Mutation_p.S125A|VIT_ENST00000401530.1_Missense_Mutation_p.S125A|VIT_ENST00000497382.1_De_novo_Start_OutOfFrame|VIT_ENST00000379242.3_Missense_Mutation_p.S125A	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	125	LCCL. {ECO:0000255|PROSITE- ProRule:PRU00123}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CCAATCGTTATCCCTACCACG	0.438																																						uc002rpl.2		NA																	0				ovary(1)|pancreas(1)	2						c.(373-375)TCC>GCC		vitrin							157.0	136.0	143.0					2																	36982161		2203	4300	6503	SO:0001583	missense	5212					proteinaceous extracellular matrix		g.chr2:36982161T>G	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.373T>G	2.37:g.36982161T>G	ENSP00000374625:p.Ser125Ala					VIT_uc002rpk.2_Missense_Mutation_p.S118A|VIT_uc010ynf.1_Missense_Mutation_p.S118A|VIT_uc002rpm.2_Missense_Mutation_p.S118A|VIT_uc010ezv.2_Missense_Mutation_p.S118A|VIT_uc010ezw.2_Missense_Mutation_p.S118A	p.S125A	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN			5	594	+		all_hematologic(82;0.248)	125			LCCL.		A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	c.373T>G	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	T	16.42	3.117085	0.56505	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000402257;ENST00000457137;ENST00000404084;ENST00000379241;ENST00000401530	D;D;D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65;-2.65;-2.65	5.63	5.63	0.86233	LCCL (4);	0.101925	0.64402	D	0.000001	D	0.93281	0.7859	L	0.46819	1.47	0.53005	D	0.999961	D;P;P;D;D;D	0.76494	0.999;0.908;0.934;0.965;0.984;0.998	D;P;P;P;P;D	0.83275	0.996;0.669;0.539;0.765;0.824;0.995	D	0.92818	0.6270	10	0.40728	T	0.16	-24.9212	15.5314	0.75964	0.0:0.0:0.0:1.0	.	125;125;125;125;125;125	B4DRU4;E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4;Q6UXI7-3	.;.;.;VITRN_HUMAN;.;.	A	125;125;125;125;103;125;125	ENSP00000368544:S125A;ENSP00000374625:S125A;ENSP00000393561:S125A;ENSP00000384154:S103A;ENSP00000368543:S125A;ENSP00000385658:S125A	ENSP00000368543:S125A	S	+	1	0	VIT	36835665	1.000000	0.71417	0.246000	0.24233	0.143000	0.21401	6.394000	0.73223	2.145000	0.66743	0.533000	0.62120	TCC		0.438	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				5	32	0	0	0	0	5	32				
EPAS1	2034	broad.mit.edu	37	2	46574098	46574098	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:46574098C>T	ENST00000263734.3	+	2	623	c.113C>T	c.(112-114)gCc>gTc	p.A38V	EPAS1_ENST00000467888.1_3'UTR	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	38	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TATGAGCTGGCCCATGAGCTG	0.602																																						uc002ruv.2		NA																	0				ovary(1)|skin(1)	2						c.(112-114)GCC>GTC		endothelial PAS domain protein 1							113.0	105.0	108.0					2																	46574098		2203	4300	6503	SO:0001583	missense	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46574098C>T	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.113C>T	2.37:g.46574098C>T	ENSP00000263734:p.Ala38Val						p.A38V	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		2	601	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	38			Helix-loop-helix motif.		Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	c.113C>T	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	C	36	5.712125	0.96830	.	.	ENSG00000116016	ENST00000449347;ENST00000263734	T;T	0.22743	1.94;1.94	4.86	4.86	0.63082	Helix-loop-helix DNA-binding (3);	0.000000	0.85682	D	0.000000	T	0.57592	0.2064	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.69855	-0.5032	10	0.87932	D	0	.	18.1949	0.89818	0.0:1.0:0.0:0.0	.	38	Q99814	EPAS1_HUMAN	V	38	ENSP00000406137:A38V;ENSP00000263734:A38V	ENSP00000263734:A38V	A	+	2	0	EPAS1	46427602	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.544000	0.82117	2.521000	0.84997	0.561000	0.74099	GCC		0.602	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		14	107	0	0	0	0	14	107				
PSME4	23198	broad.mit.edu	37	2	54117299	54117299	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:54117299A>T	ENST00000404125.1	-	37	4293	c.4238T>A	c.(4237-4239)cTg>cAg	p.L1413Q	PSME4_ENST00000476586.1_5'Flank|PSME4_ENST00000421748.2_Missense_Mutation_p.L557Q	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1413					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AATATTGGACAGTGCTGTTCT	0.388																																						uc002rxp.2		NA																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(4237-4239)CTG>CAG		proteasome (prosome, macropain) activator							140.0	144.0	142.0					2																	54117299		2203	4300	6503	SO:0001583	missense	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54117299A>T	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.4238T>A	2.37:g.54117299A>T	ENSP00000384211:p.Leu1413Gln					PSME4_uc010yop.1_Missense_Mutation_p.L1299Q|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.L788Q|PSME4_uc010fbv.1_Missense_Mutation_p.L557Q|PSME4_uc010fbt.1_5'Flank	p.L1413Q	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		37	4294	-			1413					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	c.4238T>A	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	A	25.7	4.660181	0.88154	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.64618	-0.11;-0.11	5.36	5.36	0.76844	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.78071	0.4226	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	0.964;1.0;1.0	P;D;D	0.78314	0.671;0.991;0.981	T	0.80982	-0.1139	10	0.87932	D	0	.	15.3671	0.74531	1.0:0.0:0.0:0.0	.	788;557;1413	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	Q	557;1413	ENSP00000410830:L557Q;ENSP00000384211:L1413Q	ENSP00000384211:L1413Q	L	-	2	0	PSME4	53970803	1.000000	0.71417	0.821000	0.32701	0.952000	0.60782	9.339000	0.96797	2.030000	0.59900	0.528000	0.53228	CTG		0.388	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		26	119	0	0	0	0	26	119				
CLEC4F	165530	broad.mit.edu	37	2	71043258	71043258	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:71043258C>A	ENST00000272367.2	-	4	1331	c.1255G>T	c.(1255-1257)Gcc>Tcc	p.A419S	CLEC4F_ENST00000426626.1_Missense_Mutation_p.A419S	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	419					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TGGATCTCGGCACTGGCCTTC	0.498																																					Colon(107;10 2157 6841 26035)	uc002shf.2		NA																	0				ovary(5)	5						c.(1255-1257)GCC>TCC		C-type lectin, superfamily member 13							133.0	119.0	124.0					2																	71043258		2203	4300	6503	SO:0001583	missense	165530				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr2:71043258C>A	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.1255G>T	2.37:g.71043258C>A	ENSP00000272367:p.Ala419Ser					CLEC4F_uc010yqv.1_Missense_Mutation_p.A419S	p.A419S	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN			4	1332	-			419			Extracellular (Potential).		A4QPA5	Missense_Mutation	SNP	ENST00000272367.2	37	c.1255G>T	CCDS1910.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.314546	0.23908	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	T;T	0.52754	0.65;0.65	3.79	1.95	0.26073	.	0.962802	0.08504	N	0.936014	T	0.39358	0.1075	L	0.46741	1.465	0.09310	N	1	B;B	0.31680	0.335;0.335	B;B	0.30401	0.115;0.115	T	0.32455	-0.9906	10	0.48119	T	0.1	.	6.531	0.22326	0.0:0.7727:0.0:0.2273	.	419;419	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	S	419	ENSP00000272367:A419S;ENSP00000390581:A419S	ENSP00000272367:A419S	A	-	1	0	CLEC4F	70896766	0.000000	0.05858	0.001000	0.08648	0.091000	0.18340	0.329000	0.19698	0.553000	0.29044	0.467000	0.42956	GCC		0.498	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		9	34	1	0	7.48e-07	9.44e-07	9	34				
REG3G	130120	broad.mit.edu	37	2	79255021	79255021	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:79255021T>A	ENST00000272324.5	+	5	606	c.422T>A	c.(421-423)tTa>tAa	p.L141*	REG3G_ENST00000409471.1_Nonsense_Mutation_p.L95*|REG3G_ENST00000393897.2_Nonsense_Mutation_p.L141*	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	141	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCACCATCTTAAACCCTGGC	0.498																																						uc002snw.2		NA																	0					0						c.(421-423)TTA>TAA		regenerating islet-derived 3 gamma precursor							119.0	120.0	120.0					2																	79255021		2203	4300	6503	SO:0001587	stop_gained	130120				acute-phase response	extracellular region	sugar binding	g.chr2:79255021T>A	AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.422T>A	2.37:g.79255021T>A	ENSP00000272324:p.Leu141*					REG3G_uc002snx.2_Nonsense_Mutation_p.L141*|REG3G_uc010ffu.2_Nonsense_Mutation_p.L95*	p.L141*	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN			5	507	+			141			C-type lectin.		A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Nonsense_Mutation	SNP	ENST00000272324.5	37	c.422T>A	CCDS1962.1	.	.	.	.	.	.	.	.	.	.	T	14.79	2.641400	0.47153	.	.	ENSG00000143954	ENST00000393897;ENST00000272324;ENST00000409471	.	.	.	4.73	0.0777	0.14409	.	2.251650	0.01983	N	0.044980	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	3.7217	0.08459	0.32:0.4773:0.0:0.2026	.	.	.	.	X	141;141;95	.	ENSP00000272324:L141X	L	+	2	0	REG3G	79108529	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.237000	0.17985	-0.046000	0.13446	-0.182000	0.12963	TTA		0.498	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1	NM_198448		20	94	0	0	0	0	20	94				
RPIA	22934	broad.mit.edu	37	2	88991474	88991474	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:88991474C>T	ENST00000283646.4	+	1	313	c.258C>T	c.(256-258)ggC>ggT	p.G86G		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	86					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|ribose phosphate metabolic process (GO:0019693)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	monosaccharide binding (GO:0048029)|ribose-5-phosphate isomerase activity (GO:0004751)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				AGCTGGCGGGCCGCGCGGCTG	0.672																																						uc002ste.2		NA																	0				ovary(1)	1						c.(256-258)GGC>GGT		ribose 5-phosphate isomerase A							7.0	11.0	10.0					2																	88991474		1931	4081	6012	SO:0001819	synonymous_variant	22934				pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity	g.chr2:88991474C>T	L35035	CCDS2004.2	2p11.2	2008-07-31	2008-07-31		ENSG00000153574	ENSG00000153574	5.3.1.6		10297	protein-coding gene	gene with protein product	"""ribose 5-phosphate epimerase"""	180430				7758956	Standard	NM_144563		Approved		uc002ste.3	P49247	OTTHUMG00000130333	ENST00000283646.4:c.258C>T	2.37:g.88991474C>T							p.G86G	NM_144563	NP_653164	P49247	RPIA_HUMAN			1	299	+		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)	86					Q541P9|Q96BJ6	Silent	SNP	ENST00000283646.4	37	c.258C>T	CCDS2004.2																																																																																				0.672	RPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252683.2			5	15	0	0	0	0	5	15				
SLC9A4	389015	broad.mit.edu	37	2	103136343	103136343	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:103136343A>G	ENST00000295269.4	+	9	2204	c.1747A>G	c.(1747-1749)Aga>Gga	p.R583G		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	583					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AGGAATCAAAAGACTTTCCCC	0.458																																						uc002tbz.3		NA																	0				skin(2)|central_nervous_system(1)	3						c.(1747-1749)AGA>GGA		solute carrier family 9 (sodium/hydrogen							101.0	89.0	93.0					2																	103136343		2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103136343A>G		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.1747A>G	2.37:g.103136343A>G	ENSP00000295269:p.Arg583Gly						p.R583G	NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN			9	2204	+			583			Cytoplasmic (Potential).		Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.1747A>G	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.541715	0.45280	.	.	ENSG00000180251	ENST00000295269	T	0.43294	0.95	6.16	4.98	0.66077	.	0.191385	0.42548	D	0.000686	T	0.36193	0.0958	L	0.46947	1.48	0.36036	D	0.839765	B	0.06786	0.001	B	0.09377	0.004	T	0.33189	-0.9878	10	0.33141	T	0.24	.	11.992	0.53180	0.8085:0.1915:0.0:0.0	.	583	Q6AI14	SL9A4_HUMAN	G	583	ENSP00000295269:R583G	ENSP00000295269:R583G	R	+	1	2	SLC9A4	102502775	0.999000	0.42202	0.987000	0.45799	0.875000	0.50365	3.866000	0.56040	1.062000	0.40625	0.528000	0.53228	AGA		0.458	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		10	24	0	0	0	0	10	24				
UGGT1	56886	broad.mit.edu	37	2	128937402	128937402	+	Silent	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:128937402G>C	ENST00000259253.6	+	35	3905	c.3858G>C	c.(3856-3858)gtG>gtC	p.V1286V	UGGT1_ENST00000375990.3_Silent_p.V1262V	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1286	Glucosyltransferase. {ECO:0000250}.				'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGACTCCTGTGAAATTCTGGT	0.343																																						uc002tps.2		NA																	0				ovary(1)	1						c.(3856-3858)GTG>GTC		UDP-glucose ceramide glucosyltransferase-like 1							144.0	147.0	146.0					2																	128937402		2203	4300	6503	SO:0001819	synonymous_variant	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128937402G>C	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.3858G>C	2.37:g.128937402G>C						UGGT1_uc002tpr.2_Silent_p.V1262V	p.V1286V	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN			35	4036	+			1286			Glucosyltransferase (By similarity).		Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Silent	SNP	ENST00000259253.6	37	c.3858G>C	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	G	9.799	1.180074	0.21787	.	.	ENSG00000136731	ENST00000418197	.	.	.	5.72	3.93	0.45458	.	.	.	.	.	T	0.54498	0.1862	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49173	-0.8967	4	.	.	.	.	5.5917	0.17305	0.2293:0.0:0.6316:0.1391	.	.	.	.	Q	15	.	.	E	+	1	0	UGGT1	128653872	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.942000	0.49018	0.784000	0.33661	0.655000	0.94253	GAA		0.343	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		11	53	0	0	0	0	11	53				
SMPD4	55627	broad.mit.edu	37	2	130918826	130918826	+	Missense_Mutation	SNP	C	C	A	rs376842429		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:130918826C>A	ENST00000409031.1	-	11	2149	c.1001G>T	c.(1000-1002)cGa>cTa	p.R334L	SMPD4_ENST00000351288.6_Intron|SMPD4_ENST00000452225.2_Missense_Mutation_p.D48Y|SMPD4_ENST00000453750.1_Intron|SMPD4_ENST00000339679.7_Intron|SMPD4_ENST00000431183.2_Intron|SMPD4_ENST00000473720.1_Intron|SMPD4_ENST00000426662.2_Intron|SMPD4_ENST00000443958.2_Intron	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	295					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	GACACTGAGTCGGTAGTGCAG	0.597																																						uc002tqq.1		NA																	0					0						c.(1000-1002)CGA>CTA		sphingomyelin phosphodiesterase 4 isoform 2	Phosphatidylserine(DB00144)						68.0	72.0	71.0					2																	130918826		1955	4135	6090	SO:0001583	missense	55627				sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity	g.chr2:130918826C>A	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.1001G>T	2.37:g.130918826C>A	ENSP00000386531:p.Arg334Leu					SMPD4_uc002tqp.1_Missense_Mutation_p.R27L|SMPD4_uc010yzy.1_Intron|SMPD4_uc010yzz.1_Intron|SMPD4_uc002tqr.1_Intron|SMPD4_uc002tqs.1_Missense_Mutation_p.R202L|SMPD4_uc002tqt.1_Intron|SMPD4_uc010zaa.1_Intron|SMPD4_uc010zab.1_Intron|SMPD4_uc010zac.1_Missense_Mutation_p.D48Y|SMPD4_uc010zad.1_Intron	p.R334L	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN			11	1521	-	Colorectal(110;0.1)		295					B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Missense_Mutation	SNP	ENST00000409031.1	37	c.1001G>T	CCDS42751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	24.2|24.2	4.510312|4.510312	0.85282|0.85282	.|.	.|.	ENSG00000136699|ENSG00000136699	ENST00000439886;ENST00000452225|ENST00000409031	.|.	.|.	.|.	3.7|3.7	3.7|3.7	0.42460|0.42460	.|.	.|0.000000	.|0.64402	.|U	.|0.000008	T|T	0.67832|0.67832	0.2935|0.2935	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	P|P;D	0.51240|0.89917	0.943|0.875;1.0	P|P;D	0.46479|0.81914	0.518|0.544;0.995	T|T	0.64613|0.64613	-0.6366|-0.6366	7|9	.|0.09843	.|T	.|0.71	.|.	13.0069|13.0069	0.58710|0.58710	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	48|334;295	B4DQ31|B1PBA3;Q9NXE4-4	.|.;.	Y|L	163;48|334	.|.	.|ENSP00000386531:R334L	D|R	-|-	1|2	0|0	SMPD4|SMPD4	130635296|130635296	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.992000|0.992000	0.81027|0.81027	6.753000|6.753000	0.74904|0.74904	1.873000|1.873000	0.54277|0.54277	0.557000|0.557000	0.71058|0.71058	GAC|CGA		0.597	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254516.3	NM_017751		15	58	1	0	2.32e-05	2.82e-05	15	58				
ZEB2	9839	broad.mit.edu	37	2	145156365	145156366	+	Missense_Mutation	DNP	GG	GG	TT	rs111359671		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:145156365_145156366GG>TT	ENST00000558170.2	-	8	3572_3573	c.2388_2389CC>AA	c.(2386-2391)tcCCac>tcAAac	p.H797N	ZEB2_ENST00000539609.3_Missense_Mutation_p.H773N|ZEB2_ENST00000303660.4_Missense_Mutation_p.H797N|ZEB2_ENST00000409487.3_Missense_Mutation_p.H797N	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	797					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GAACTACTGTGGGAGTTTTTAG	0.396																																					Melanoma(33;1235 1264 5755 16332)	uc002tvu.2		NA																	0				ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9						c.(2386-2391)TCCCAC>TCAAAC		zinc finger homeobox 1b																																				SO:0001583	missense	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145156365_145156366GG>TT	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.2388_2389delinsTT	2.37:g.145156365_145156366delinsTT	ENSP00000454157:p.His797Asn					ZEB2_uc002tvv.2_Missense_Mutation_p.H791N|ZEB2_uc010zbm.1_Missense_Mutation_p.H768N|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.H826N	p.H797N	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	2868_2869	-			797					A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	DNP	ENST00000558170.2	37	c.2388_2389CC>AA	CCDS2186.1																																																																																				0.396	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		20	140	0	0	0	0	20	140				
KCNH7	90134	broad.mit.edu	37	2	163695000	163695000	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:163695000G>T	ENST00000332142.5	-	1	128	c.29C>A	c.(28-30)cCa>cAa	p.P10Q	KCNH7_ENST00000328032.4_Missense_Mutation_p.P10Q	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	10					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TGTATTTTGTGGTGCCACATG	0.562																																					GBM(196;1492 2208 17507 24132 45496)	uc002uch.1		NA																	0				ovary(3)|skin(2)	5						c.(28-30)CCA>CAA		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						131.0	115.0	120.0					2																	163695000		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163695000G>T	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.29C>A	2.37:g.163695000G>T	ENSP00000331727:p.Pro10Gln					KCNH7_uc002uci.2_Missense_Mutation_p.P10Q	p.P10Q	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN			1	241	-			10			Cytoplasmic (Potential).		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.29C>A	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996414	0.74818	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.99724	-5.46;-6.54	5.53	4.64	0.57946	.	0.061204	0.64402	D	0.000003	D	0.99635	0.9866	M	0.81341	2.54	0.52099	D	0.99994	D;D	0.76494	0.994;0.999	D;D	0.77557	0.915;0.99	D	0.97769	1.0225	10	0.66056	D	0.02	.	14.7766	0.69736	0.0:0.0:0.8546:0.1454	.	10;10	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	Q	10	ENSP00000331727:P10Q;ENSP00000333781:P10Q	ENSP00000333781:P10Q	P	-	2	0	KCNH7	163403246	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	9.437000	0.97535	1.312000	0.45043	0.585000	0.79938	CCA		0.562	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		14	56	1	0	2.49e-13	3.53e-13	14	56				
SCN7A	6332	broad.mit.edu	37	2	167279890	167279890	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:167279890T>G	ENST00000409855.1	-	18	3032	c.2906A>C	c.(2905-2907)gAa>gCa	p.E969A		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	969					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	GTCAGCATATTCTAATAAAAT	0.308																																						uc002udu.1		NA																	0				large_intestine(1)	1						c.(2905-2907)GAA>GCA		sodium channel, voltage-gated, type VII, alpha							51.0	47.0	48.0					2																	167279890		1868	4153	6021	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167279890T>G	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.2906A>C	2.37:g.167279890T>G	ENSP00000386796:p.Glu969Ala					SCN7A_uc010fpm.1_RNA	p.E969A	NM_002976	NP_002967	Q01118	SCN7A_HUMAN			18	3033	-			969			Helical; Name=S2 of repeat III; (By similarity).			Missense_Mutation	SNP	ENST00000409855.1	37	c.2906A>C	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	T	15.25	2.778179	0.49786	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.97430	-4.38	4.65	3.49	0.39957	.	0.100970	0.43110	D	0.000602	D	0.97126	0.9061	L	0.52126	1.63	0.40258	D	0.978149	D	0.69078	0.997	D	0.77004	0.989	D	0.96694	0.9513	10	0.87932	D	0	.	8.5472	0.33429	0.0:0.0934:0.0:0.9066	.	969	Q01118	SCN7A_HUMAN	A	969	ENSP00000386796:E969A	ENSP00000259060:E969A	E	-	2	0	SCN7A	166988136	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.134000	0.71689	0.911000	0.36747	0.477000	0.44152	GAA		0.308	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			6	22	0	0	0	0	6	22				
SCN7A	6332	broad.mit.edu	37	2	167301445	167301445	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:167301445A>T	ENST00000409855.1	-	12	1579	c.1453T>A	c.(1453-1455)Tgg>Agg	p.W485R		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	485					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	GAACAATTCCAGATCAAGAAA	0.303																																						uc002udu.1		NA																	0				large_intestine(1)	1						c.(1453-1455)TGG>AGG		sodium channel, voltage-gated, type VII, alpha							74.0	72.0	73.0					2																	167301445		1802	4087	5889	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167301445A>T	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.1453T>A	2.37:g.167301445A>T	ENSP00000386796:p.Trp485Arg					SCN7A_uc010fpm.1_RNA	p.W485R	NM_002976	NP_002967	Q01118	SCN7A_HUMAN			12	1580	-			485						Missense_Mutation	SNP	ENST00000409855.1	37	c.1453T>A	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	A	18.41	3.616970	0.66672	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992	D;D	0.97186	-4.23;-4.28	5.29	5.29	0.74685	.	0.000000	0.47455	D	0.000231	D	0.98620	0.9538	M	0.91510	3.215	0.51767	D	0.999934	D	0.76494	0.999	D	0.85130	0.997	D	0.99548	1.0965	10	0.72032	D	0.01	.	13.2186	0.59875	1.0:0.0:0.0:0.0	.	485	Q01118	SCN7A_HUMAN	R	485	ENSP00000386796:W485R;ENSP00000413699:W485R	ENSP00000259060:W485R	W	-	1	0	SCN7A	167009691	1.000000	0.71417	0.996000	0.52242	0.550000	0.35303	9.139000	0.94554	2.214000	0.71695	0.528000	0.53228	TGG		0.303	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			9	25	0	0	0	0	9	25				
TTN	7273	broad.mit.edu	37	2	179423146	179423146	+	Silent	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:179423146G>T	ENST00000591111.1	-	277	82341	c.82117C>A	c.(82117-82119)Cga>Aga	p.R27373R	TTN_ENST00000342175.6_Silent_p.R20141R|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Silent_p.R19949R|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Silent_p.R26446R|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.R20074R|TTN_ENST00000589042.1_Silent_p.R29014R			Q8WZ42	TITIN_HUMAN	titin	27373	Fibronectin type-III 99. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAAACACTCGGAAAAAGTAT	0.423																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(79336-79338)CGA>AGA		titin isoform N2-A							73.0	71.0	72.0					2																	179423146		1865	4111	5976	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179423146G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.82117C>A	2.37:g.179423146G>T						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.R20141R|TTN_uc010zfi.1_Silent_p.R20074R|TTN_uc010zfj.1_Silent_p.R19949R	p.R26446R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		276	79560	-			27373					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.79336C>A																																																																																					0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	32	1	0	2.74e-10	3.76e-10	10	32				
TTN	7273	broad.mit.edu	37	2	179431634	179431634	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:179431634G>T	ENST00000591111.1	-	276	74526	c.74302C>A	c.(74302-74304)Cgt>Agt	p.R24768S	TTN_ENST00000342175.6_Missense_Mutation_p.R17536S|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R17344S|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R23841S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R17469S|TTN_ENST00000589042.1_Missense_Mutation_p.R26409S			Q8WZ42	TITIN_HUMAN	titin	24768	Fibronectin type-III 80. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTATCTGGACGGTTCCAACAG	0.413																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(71521-71523)CGT>AGT		titin isoform N2-A							76.0	74.0	74.0					2																	179431634		1870	4099	5969	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179431634G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.74302C>A	2.37:g.179431634G>T	ENSP00000465570:p.Arg24768Ser					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R17536S|TTN_uc010zfi.1_Missense_Mutation_p.R17469S|TTN_uc010zfj.1_Missense_Mutation_p.R17344S	p.R23841S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	71745	-			24768					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.71521C>A		.	.	.	.	.	.	.	.	.	.	G	12.33	1.905179	0.33628	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.75	4.87	0.63330	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64516	0.2605	M	0.65320	2	0.43267	D	0.995213	P;P;P;P	0.52170	0.951;0.951;0.951;0.913	P;P;P;P	0.53490	0.727;0.727;0.727;0.643	T	0.69624	-0.5095	9	0.87932	D	0	.	17.0176	0.86423	0.0:0.127:0.873:0.0	.	17344;17469;17536;24768	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	23841;17344;17536;17469;17342	ENSP00000343764:R23841S;ENSP00000434586:R17344S;ENSP00000340554:R17536S;ENSP00000352154:R17469S	ENSP00000340554:R17536S	R	-	1	0	TTN	179139880	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.715000	0.47210	1.400000	0.46741	0.561000	0.74099	CGT		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		27	78	1	0	3.74e-20	5.55e-20	27	78				
TTN	7273	broad.mit.edu	37	2	179483207	179483207	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:179483207G>T	ENST00000591111.1	-	202	42279	c.42055C>A	c.(42055-42057)Cca>Aca	p.P14019T	TTN_ENST00000342175.6_Missense_Mutation_p.P6787T|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P6595T|TTN_ENST00000342992.6_Missense_Mutation_p.P13092T|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P6720T|TTN_ENST00000589042.1_Missense_Mutation_p.P15660T			Q8WZ42	TITIN_HUMAN	titin	14019	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTACGTACTGGCCCAGGAACA	0.403																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(39274-39276)CCA>ACA		titin isoform N2-A							62.0	58.0	60.0					2																	179483207		1872	4106	5978	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179483207G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.42055C>A	2.37:g.179483207G>T	ENSP00000465570:p.Pro14019Thr					TTN_uc010zfh.1_Missense_Mutation_p.P6787T|TTN_uc010zfi.1_Missense_Mutation_p.P6720T|TTN_uc010zfj.1_Missense_Mutation_p.P6595T	p.P13092T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		201	39498	-			14019					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.39274C>A		.	.	.	.	.	.	.	.	.	.	G	11.18	1.563260	0.27915	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.55	5.55	0.83447	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82504	0.5051	M	0.92923	3.36	0.51012	D	0.999902	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.72982	0.947;0.947;0.947;0.979	D	0.86139	0.1580	9	0.87932	D	0	.	19.8639	0.96797	0.0:0.0:1.0:0.0	.	6595;6720;6787;14019	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	13092;6595;6787;6720;6595	ENSP00000343764:P13092T;ENSP00000434586:P6595T;ENSP00000340554:P6787T;ENSP00000352154:P6720T	ENSP00000340554:P6787T	P	-	1	0	TTN	179191452	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.750000	0.85110	2.772000	0.95346	0.650000	0.86243	CCA		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		22	67	1	0	1.28e-07	1.66e-07	22	67				
TTN	7273	broad.mit.edu	37	2	179585700	179585700	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:179585700C>A	ENST00000591111.1	-	77	22319	c.22095G>T	c.(22093-22095)gaG>gaT	p.E7365D	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E6438D|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.E7682D			Q8WZ42	TITIN_HUMAN	titin	12928	Ig-like 55.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATTATGAGCCTCACAAATGT	0.428																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(19312-19314)GAG>GAT		titin isoform N2-A							80.0	81.0	81.0					2																	179585700		2046	4206	6252	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179585700C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22095G>T	2.37:g.179585700C>A	ENSP00000465570:p.Glu7365Asp					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E3099D	p.E6438D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		76	19538	-			7365					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.19314G>T		.	.	.	.	.	.	.	.	.	.	C	11.64	1.697679	0.30142	.	.	ENSG00000155657	ENST00000342992	T	0.67865	-0.29	6.16	-3.54	0.04653	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80465	0.4628	M	0.87269	2.87	0.80722	D	1	D	0.57899	0.981	D	0.71414	0.973	T	0.82594	-0.0380	9	0.87932	D	0	.	12.8751	0.57986	0.0:0.4188:0.0:0.5812	.	7365	Q8WZ42	TITIN_HUMAN	D	6438	ENSP00000343764:E6438D	ENSP00000343764:E6438D	E	-	3	2	TTN	179293945	0.954000	0.32549	0.977000	0.42913	0.925000	0.55904	0.035000	0.13797	-0.542000	0.06249	-0.781000	0.03364	GAG		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	74	1	0	1.13e-05	1.39e-05	8	74				
ZNF804A	91752	broad.mit.edu	37	2	185803441	185803441	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:185803441C>T	ENST00000302277.6	+	4	3912	c.3318C>T	c.(3316-3318)caC>caT	p.H1106H		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1106							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						tgcagcagcacgctgcagctg	0.547																																						uc002uph.2		NA																	0				ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(3316-3318)CAC>CAT		zinc finger protein 804A							63.0	67.0	66.0					2																	185803441		2203	4300	6503	SO:0001819	synonymous_variant	91752					intracellular	zinc ion binding	g.chr2:185803441C>T	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.3318C>T	2.37:g.185803441C>T							p.H1106H	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	3912	+			1106					A7E253|Q6ZN26	Silent	SNP	ENST00000302277.6	37	c.3318C>T	CCDS2291.1																																																																																				0.547	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		14	93	0	0	0	0	14	93				
ZSWIM2	151112	broad.mit.edu	37	2	187702117	187702117	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:187702117G>T	ENST00000295131.2	-	5	698	c.659C>A	c.(658-660)gCa>gAa	p.A220E		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	220					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TTTTTCTGCTGCAGCTACTAG	0.393																																						uc002upu.1		NA																	0				ovary(2)|skin(1)	3						c.(658-660)GCA>GAA		zinc finger, SWIM domain containing 2							124.0	120.0	121.0					2																	187702117		2203	4300	6503	SO:0001583	missense	151112				apoptosis		zinc ion binding	g.chr2:187702117G>T	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.659C>A	2.37:g.187702117G>T	ENSP00000295131:p.Ala220Glu						p.A220E	NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		5	699	-			220					B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	c.659C>A	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	G	7.506	0.653677	0.14580	.	.	ENSG00000163012	ENST00000295131	D	0.87729	-2.29	5.97	2.9	0.33743	.	0.766837	0.11528	N	0.554946	D	0.82664	0.5086	L	0.57536	1.79	0.09310	N	1	B	0.21821	0.061	B	0.17433	0.018	T	0.67684	-0.5607	10	0.30854	T	0.27	0.6365	7.1159	0.25416	0.4206:0.0:0.5794:0.0	.	220	Q8NEG5	ZSWM2_HUMAN	E	220	ENSP00000295131:A220E	ENSP00000295131:A220E	A	-	2	0	ZSWIM2	187410362	0.051000	0.20477	0.020000	0.16555	0.171000	0.22731	0.602000	0.24134	0.280000	0.22209	0.591000	0.81541	GCA		0.393	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		25	58	1	0	5.45e-15	7.81e-15	25	58				
ZSWIM2	151112	broad.mit.edu	37	2	187703819	187703819	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:187703819G>T	ENST00000295131.2	-	4	400	c.361C>A	c.(361-363)Cca>Aca	p.P121T		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	121					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TTTGTTCCTGGTTGGGGAGTT	0.403																																						uc002upu.1		NA																	0				ovary(2)|skin(1)	3						c.(361-363)CCA>ACA		zinc finger, SWIM domain containing 2							233.0	224.0	227.0					2																	187703819		2203	4300	6503	SO:0001583	missense	151112				apoptosis		zinc ion binding	g.chr2:187703819G>T	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.361C>A	2.37:g.187703819G>T	ENSP00000295131:p.Pro121Thr						p.P121T	NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		4	401	-			121					B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	c.361C>A	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	G	2.795	-0.250353	0.05867	.	.	ENSG00000163012	ENST00000295131	T	0.22743	1.94	5.06	2.16	0.27623	.	1.317090	0.05209	N	0.506454	T	0.17492	0.0420	L	0.31926	0.97	0.09310	N	1	B	0.26672	0.156	B	0.18871	0.023	T	0.33777	-0.9855	10	0.14656	T	0.56	0.703	12.3676	0.55236	0.0:0.0:0.4151:0.5849	.	121	Q8NEG5	ZSWM2_HUMAN	T	121	ENSP00000295131:P121T	ENSP00000295131:P121T	P	-	1	0	ZSWIM2	187412064	0.002000	0.14202	0.002000	0.10522	0.898000	0.52572	0.926000	0.28804	0.203000	0.20529	-0.188000	0.12872	CCA		0.403	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		44	201	1	0	4.67e-22	6.94e-22	44	201				
PMS1	5378	broad.mit.edu	37	2	190718963	190718963	+	Splice_Site	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:190718963A>G	ENST00000441310.2	+	9	1199		c.e9-1		PMS1_ENST00000432292.3_Splice_Site|PMS1_ENST00000421722.1_Splice_Site|PMS1_ENST00000447232.2_Splice_Site|PMS1_ENST00000409823.3_Splice_Site|PMS1_ENST00000418224.3_Splice_Site	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)						ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TTGTATTTTTAGGAATCTGTT	0.234			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																														uc002urh.3		NA	yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	Mis|N	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)			E		colorectal|endometrial|ovarian			0				ovary(2)|kidney(1)|central_nervous_system(1)	4						c.e9-2	Direct_reversal_of_damage|MMR	postmeiotic segregation 1 isoform a							24.0	24.0	24.0					2																	190718963		1910	4131	6041	SO:0001630	splice_region_variant	5378				mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	g.chr2:190718963A>G		CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.967-1A>G	2.37:g.190718963A>G						PMS1_uc010zga.1_Splice_Site_p.E284_splice|PMS1_uc010zgb.1_Splice_Site_p.E262_splice|PMS1_uc002urk.3_Splice_Site_p.E284_splice|PMS1_uc002uri.3_Splice_Site_p.E323_splice|PMS1_uc010zgc.1_Splice_Site_p.E147_splice|PMS1_uc010zgd.1_Splice_Site_p.E147_splice|PMS1_uc002urj.2_Splice_Site|PMS1_uc010fry.1_Splice_Site_p.E284_splice|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Splice_Site_p.E108_splice|PMS1_uc002urm.2_Splice_Site|PMS1_uc002urn.1_Splice_Site	p.E323_splice	NM_000534	NP_000525	P54277	PMS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		9	1496	+								D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Splice_Site	SNP	ENST00000441310.2	37	c.967_splice	CCDS2302.1	.	.	.	.	.	.	.	.	.	.	A	16.09	3.025090	0.54683	.	.	ENSG00000064933	ENST00000392338;ENST00000441310;ENST00000418224;ENST00000409823;ENST00000447232;ENST00000432292;ENST00000424307;ENST00000409593	.	.	.	5.29	4.09	0.47781	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3487	0.49575	0.864:0.0:0.0:0.136	.	.	.	.	.	-1	.	.	.	+	.	.	PMS1	190427208	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.882000	0.75589	0.972000	0.38314	0.455000	0.32223	.		0.234	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2		Intron	4	30	0	0	0	0	4	30				
DNAH7	56171	broad.mit.edu	37	2	196825534	196825534	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:196825534T>C	ENST00000312428.6	-	18	2441	c.2341A>G	c.(2341-2343)Aga>Gga	p.R781G		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	781	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GTCCATGCTCTATAGTTGCTG	0.383																																						uc002utj.3		NA																	0				skin(10)|ovary(2)	12						c.(2341-2343)AGA>GGA		dynein, axonemal, heavy chain 7							166.0	155.0	158.0					2																	196825534		1853	4105	5958	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196825534T>C	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.2341A>G	2.37:g.196825534T>C	ENSP00000311273:p.Arg781Gly						p.R781G	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			18	2442	-			781			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.2341A>G	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	T	7.767	0.706562	0.15239	.	.	ENSG00000118997	ENST00000312428	T	0.61274	0.12	5.74	0.155	0.14906	Dynein heavy chain, domain-2 (1);	0.389296	0.28420	N	0.015409	T	0.45196	0.1330	L	0.41415	1.275	0.09310	N	1	B	0.16802	0.019	B	0.24006	0.05	T	0.40831	-0.9542	10	0.45353	T	0.12	.	9.9469	0.41613	0.0:0.0662:0.4929:0.4409	.	781	Q8WXX0	DYH7_HUMAN	G	781	ENSP00000311273:R781G	ENSP00000311273:R781G	R	-	1	2	DNAH7	196533779	0.117000	0.22190	0.001000	0.08648	0.300000	0.27592	0.366000	0.20365	0.079000	0.16929	0.528000	0.53228	AGA		0.383	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		32	122	0	0	0	0	32	122				
PIKFYVE	200576	broad.mit.edu	37	2	209207340	209207340	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:209207340A>G	ENST00000264380.4	+	32	5152	c.4994A>G	c.(4993-4995)aAg>aGg	p.K1665R		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1665					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GTCTGCGAGAAGGAACCCAGC	0.343																																						uc002vcz.2		NA																	0				ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						c.(4993-4995)AAG>AGG		phosphatidylinositol-3-phosphate 5-kinase type							177.0	161.0	167.0					2																	209207340		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209207340A>G	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.4994A>G	2.37:g.209207340A>G	ENSP00000264380:p.Lys1665Arg						p.K1665R	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN			32	5152	+			1665					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.4994A>G	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	A	11.57	1.678015	0.29783	.	.	ENSG00000115020	ENST00000264380	T	0.28454	1.61	5.42	4.26	0.50523	.	0.121997	0.53938	N	0.000060	T	0.13970	0.0338	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.06303	-1.0834	10	0.27082	T	0.32	-17.0487	11.4443	0.50114	0.929:0.0:0.071:0.0	.	1665	Q9Y2I7	FYV1_HUMAN	R	1665	ENSP00000264380:K1665R	ENSP00000264380:K1665R	K	+	2	0	PIKFYVE	208915585	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.362000	0.59467	0.998000	0.38996	0.455000	0.32223	AAG		0.343	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		10	51	0	0	0	0	10	51				
MAP2	4133	broad.mit.edu	37	2	210559961	210559961	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:210559961C>T	ENST00000360351.4	+	7	3573	c.3067C>T	c.(3067-3069)Cca>Tca	p.P1023S	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.P1019S|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1023					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TAGTTCAGTGCCAGAGATAGC	0.428																																					Pancreas(27;423 979 28787 29963)	uc002vde.1		NA																	0				ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17						c.(3067-3069)CCA>TCA		microtubule-associated protein 2 isoform 1	Estramustine(DB01196)						100.0	99.0	99.0					2																	210559961		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210559961C>T		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.3067C>T	2.37:g.210559961C>T	ENSP00000353508:p.Pro1023Ser					MAP2_uc002vdc.1_Missense_Mutation_p.P1023S|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.P1019S	p.P1023S	NM_002374	NP_002365	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	3315	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1023					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.3067C>T	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218213	0.58560	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.28069	1.63;1.63	6.07	6.07	0.98685	MAP2/Tau projection (1);	0.095006	0.47093	D	0.000254	T	0.42359	0.1199	L	0.59436	1.845	0.45046	D	0.998068	P;D	0.53619	0.952;0.961	P;P	0.52957	0.591;0.714	T	0.25950	-1.0117	10	0.72032	D	0.01	-5.763	11.8048	0.52147	0.137:0.7309:0.132:0.0	.	1019;1023	P11137-3;P11137	.;MAP2_HUMAN	S	1023;1019	ENSP00000353508:P1023S;ENSP00000392164:P1019S	ENSP00000353508:P1023S	P	+	1	0	MAP2	210268206	1.000000	0.71417	1.000000	0.80357	0.365000	0.29674	2.219000	0.42899	2.890000	0.99128	0.650000	0.86243	CCA		0.428	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		6	38	0	0	0	0	6	38				
ABCA12	26154	broad.mit.edu	37	2	215880266	215880266	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:215880266A>T	ENST00000272895.7	-	15	2123	c.1904T>A	c.(1903-1905)cTc>cAc	p.L635H	ABCA12_ENST00000389661.4_Missense_Mutation_p.L317H	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	635					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAGTCCGATGAGGTAAGACTG	0.383																																					Ovarian(66;664 1488 5121 34295)	uc002vew.2		NA																	0				ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11						c.(1903-1905)CTC>CAC		ATP-binding cassette, sub-family A, member 12							104.0	99.0	101.0					2																	215880266		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215880266A>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.1904T>A	2.37:g.215880266A>T	ENSP00000272895:p.Leu635His					ABCA12_uc002vev.2_Missense_Mutation_p.L317H|ABCA12_uc010zjn.1_5'UTR	p.L635H	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	15	2124	-		Renal(323;0.127)	635					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.1904T>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	A	18.53	3.643198	0.67244	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.89123	-2.47;-2.45	5.65	5.65	0.86999	.	0.103368	0.43260	D	0.000582	D	0.88912	0.6566	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.999;0.987	P;P	0.62740	0.897;0.906	D	0.87969	0.2735	10	0.32370	T	0.25	.	14.4069	0.67088	1.0:0.0:0.0:0.0	.	635;317	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	H	635;317	ENSP00000272895:L635H;ENSP00000374312:L317H	ENSP00000272895:L635H	L	-	2	0	ABCA12	215588511	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	5.683000	0.68189	2.279000	0.76181	0.533000	0.62120	CTC		0.383	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		5	27	0	0	0	0	5	27				
COL6A3	1293	broad.mit.edu	37	2	238242141	238242141	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:238242141T>C	ENST00000295550.4	-	42	9732	c.9280A>G	c.(9280-9282)Acc>Gcc	p.T3094A	COL6A3_ENST00000346358.4_Missense_Mutation_p.T2894A|COL6A3_ENST00000353578.4_Missense_Mutation_p.T2888A|COL6A3_ENST00000472056.1_Missense_Mutation_p.T2487A|COL6A3_ENST00000347401.3_Missense_Mutation_p.T2893A|COL6A3_ENST00000409809.1_Missense_Mutation_p.T2888A	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	3094	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGATTGATGGTTGAACTAGAA	0.423																																						uc002vwl.2		NA																	0				ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(9280-9282)ACC>GCC		alpha 3 type VI collagen isoform 1 precursor							100.0	94.0	96.0					2																	238242141		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238242141T>C	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.9280A>G	2.37:g.238242141T>C	ENSP00000295550:p.Thr3094Ala					COL6A3_uc002vwo.2_Missense_Mutation_p.T2888A|COL6A3_uc010znj.1_Missense_Mutation_p.T2487A|COL6A3_uc002vwj.2_Missense_Mutation_p.T475A	p.T3094A	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	42	9565	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	3094			Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.9280A>G	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	T	9.762	1.170392	0.21621	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.89617	-2.54;-2.51;-2.5;-2.49;-2.5;-2.49	4.91	-0.571	0.11749	.	0.137998	0.32868	N	0.005542	D	0.83543	0.5277	M	0.62723	1.935	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.70513	-0.4851	10	0.36615	T	0.2	.	7.9409	0.29957	0.0:0.3744:0.0:0.6256	.	2487;2888;3094	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	A	3094;2893;2888;2487;2888;2894	ENSP00000295550:T3094A;ENSP00000315609:T2893A;ENSP00000315873:T2888A;ENSP00000418285:T2487A;ENSP00000386844:T2888A;ENSP00000295546:T2894A	ENSP00000295550:T3094A	T	-	1	0	COL6A3	237906880	0.809000	0.29036	0.020000	0.16555	0.970000	0.65996	0.949000	0.29109	-0.227000	0.09884	0.528000	0.53228	ACC		0.423	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		13	65	0	0	0	0	13	65				
CSNK2A1	1457	broad.mit.edu	37	20	476380	476380	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr20:476380C>G	ENST00000217244.3	-	8	868	c.493G>C	c.(493-495)Gat>Cat	p.D165H	CSNK2A1_ENST00000400227.3_Missense_Mutation_p.D165H|CSNK2A1_ENST00000400217.2_Missense_Mutation_p.D29H|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.D165H	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	165	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			TGCTCATGATCAATCATGACA	0.428																																						uc002wdw.1		NA																	0				ovary(1)	1						c.(493-495)GAT>CAT		casein kinase II alpha 1 subunit isoform a							152.0	129.0	137.0					20																	476380		2203	4300	6503	SO:0001583	missense	1457				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	g.chr20:476380C>G	M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.493G>C	20.37:g.476380C>G	ENSP00000217244:p.Asp165His					CSNK2A1_uc002wdx.1_Missense_Mutation_p.D165H|CSNK2A1_uc002wdy.1_Missense_Mutation_p.D29H	p.D165H	NM_177559	NP_808227	P68400	CSK21_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.0969)		8	886	-		Breast(17;0.231)	165			Protein kinase.		B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Missense_Mutation	SNP	ENST00000217244.3	37	c.493G>C	CCDS13003.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.608765	0.87258	.	.	ENSG00000101266	ENST00000400227;ENST00000349736;ENST00000217244;ENST00000381973;ENST00000400217	T;T;T;T	0.51071	2.95;2.95;2.95;0.72	5.12	5.12	0.69794	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	0.68952	0.3057	M	0.72479	2.2	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.71998	-0.4423	10	0.87932	D	0	-8.3202	17.7401	0.88404	0.0:1.0:0.0:0.0	.	165	P68400	CSK21_HUMAN	H	165;165;165;165;29	ENSP00000383086:D165H;ENSP00000339247:D165H;ENSP00000217244:D165H;ENSP00000383076:D29H	ENSP00000217244:D165H	D	-	1	0	CSNK2A1	424380	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.651000	0.83577	2.668000	0.90789	0.591000	0.81541	GAT		0.428	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077466.1	NM_001895		11	72	0	0	0	0	11	72				
XRN2	22803	broad.mit.edu	37	20	21346226	21346226	+	Silent	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr20:21346226A>T	ENST00000377191.3	+	26	2435	c.2340A>T	c.(2338-2340)gtA>gtT	p.V780V	XRN2_ENST00000539513.1_Silent_p.V726V|XRN2_ENST00000430571.2_Silent_p.V704V	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	780					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						CAGCAGCAGTACTGAAACCTA	0.443																																						uc002wsf.1		NA																	0				skin(1)	1						c.(2338-2340)GTA>GTT		5'-3' exoribonuclease 2							99.0	98.0	99.0					20																	21346226		2203	4300	6503	SO:0001819	synonymous_variant	22803				cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding	g.chr20:21346226A>T	AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.2340A>T	20.37:g.21346226A>T						XRN2_uc002wsg.1_Silent_p.V704V|XRN2_uc010zsk.1_Silent_p.V726V	p.V780V	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN			26	2435	+			780					Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Silent	SNP	ENST00000377191.3	37	c.2340A>T	CCDS13144.1																																																																																				0.443	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255		19	68	0	0	0	0	19	68				
TOX2	84969	broad.mit.edu	37	20	42695453	42695453	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr20:42695453G>T	ENST00000358131.5	+	7	1594	c.1386G>T	c.(1384-1386)tgG>tgT	p.W462C	TOX2_ENST00000423191.2_Missense_Mutation_p.W438C|TOX2_ENST00000341197.4_Missense_Mutation_p.W480C|TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000372999.1_Missense_Mutation_p.W438C	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	462					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GCGGGGACTGGGACAGCAGCT	0.637																																						uc002xlf.3		NA																	0				ovary(1)	1						c.(1384-1386)TGG>TGT		TOX high mobility group box family member 2							123.0	115.0	118.0					20																	42695453		2203	4300	6503	SO:0001583	missense	84969				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr20:42695453G>T	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.1386G>T	20.37:g.42695453G>T	ENSP00000350849:p.Trp462Cys					TOX2_uc010ggo.2_Missense_Mutation_p.W480C|TOX2_uc002xle.3_Missense_Mutation_p.W438C|TOX2_uc010ggp.2_Missense_Mutation_p.W438C|TOX2_uc002xlg.2_Missense_Mutation_p.W279C|TOX2_uc010zwk.1_Missense_Mutation_p.W358C	p.W462C	NM_001098798	NP_001092268	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		7	1403	+		Myeloproliferative disorder(115;0.00452)	462					A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Missense_Mutation	SNP	ENST00000358131.5	37	c.1386G>T	CCDS42875.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.8|21.8	4.203983|4.203983	0.79127|0.79127	.|.	.|.	ENSG00000124191|ENSG00000124191	ENST00000372992;ENST00000413823|ENST00000341197;ENST00000423191;ENST00000372999;ENST00000358131;ENST00000435864	.|T;T;T;T;T	.|0.63417	.|0.49;0.52;0.52;0.45;-0.04	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77725|0.77725	0.4173|0.4173	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.87578	.|0.997;0.998;0.996;0.996	T|T	0.78907|0.78907	-0.2019|-0.2019	6|10	0.87932|0.87932	D|D	0|0	.|.	17.1679|17.1679	0.86821|0.86821	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|358;480;462;438	.|B4DQV8;G3XAC7;Q96NM4;E1P5X0	.|.;.;TOX2_HUMAN;.	V|C	87|480;438;438;462;358	.|ENSP00000344724:W480C;ENSP00000390278:W438C;ENSP00000362090:W438C;ENSP00000350849:W462C;ENSP00000396777:W358C	ENSP00000362083:G87V|ENSP00000344724:W480C	G|W	+|+	2|3	0|0	TOX2|TOX2	42128867|42128867	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.855000|0.855000	0.48748|0.48748	9.134000|9.134000	0.94467|0.94467	2.706000|2.706000	0.92434|0.92434	0.655000|0.655000	0.94253|0.94253	GGG|TGG		0.637	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			38	148	1	0	4.67e-22	6.94e-22	38	148				
FITM2	128486	broad.mit.edu	37	20	42935681	42935681	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr20:42935681G>A	ENST00000396825.3	-	2	393	c.373C>T	c.(373-375)Cca>Tca	p.P125S		NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	125					cellular triglyceride homeostasis (GO:0035356)|cytoskeleton organization (GO:0007010)|lipid particle organization (GO:0034389)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of cell morphogenesis (GO:0022604)|regulation of triglyceride biosynthetic process (GO:0010866)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)				endometrium(2)|lung(2)|skin(2)	6						TCCAGGGCTGGGGACTGGTAG	0.597																																						uc002xlr.1		NA																	0				skin(2)	2						c.(373-375)CCA>TCA		fat storage-inducing transmembrane protein 2							96.0	75.0	82.0					20																	42935681		2203	4300	6503	SO:0001583	missense	128486				cellular triglyceride homeostasis|lipid particle organization|positive regulation of sequestering of triglyceride|regulation of triglyceride biosynthetic process	integral to endoplasmic reticulum membrane		g.chr20:42935681G>A	BC029662	CCDS33473.1	20q13.12	2009-04-29	2009-04-29	2009-04-29	ENSG00000197296	ENSG00000197296			16135	protein-coding gene	gene with protein product	"""fat inducing transcript 2"""	612029	"""chromosome 20 open reading frame 142"""	C20orf142		18160536	Standard	NM_001080472		Approved	dJ881L22.2, FIT2	uc002xlr.1	Q8N6M3	OTTHUMG00000032522	ENST00000396825.3:c.373C>T	20.37:g.42935681G>A	ENSP00000380037:p.Pro125Ser						p.P125S	NM_001080472	NP_001073941	Q8N6M3	FITM2_HUMAN			2	474	-			125			Extracellular (Potential).		A1L492|B9EGQ4|Q5TE59|Q9H3Y1	Missense_Mutation	SNP	ENST00000396825.3	37	c.373C>T	CCDS33473.1	.	.	.	.	.	.	.	.	.	.	G	3.268	-0.149638	0.06585	.	.	ENSG00000197296	ENST00000396825	.	.	.	5.84	3.75	0.43078	.	0.549745	0.21253	N	0.077616	T	0.11367	0.0277	N	0.01228	-0.945	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.23226	-1.0194	9	0.08837	T	0.75	.	9.9392	0.41570	0.0717:0.2469:0.6813:0.0	.	125	Q8N6M3	FITM2_HUMAN	S	125	.	ENSP00000380037:P125S	P	-	1	0	FITM2	42369095	0.040000	0.19996	0.290000	0.24890	0.058000	0.15608	0.613000	0.24299	2.758000	0.94735	0.655000	0.94253	CCA		0.597	FITM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079342.2	XM_371399		9	56	0	0	0	0	9	56				
SYNJ1	8867	broad.mit.edu	37	21	34029187	34029187	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr21:34029187C>T	ENST00000322229.7	-	20	2604	c.2605G>A	c.(2605-2607)Gat>Aat	p.D869N	SYNJ1_ENST00000382499.2_Missense_Mutation_p.D908N|SYNJ1_ENST00000433931.2_Missense_Mutation_p.D908N|SYNJ1_ENST00000382491.3_Missense_Mutation_p.D864N|SYNJ1_ENST00000357345.3_Missense_Mutation_p.D869N|SYNJ1_ENST00000464778.1_5'UTR			O43426	SYNJ1_HUMAN	synaptojanin 1	869	Catalytic. {ECO:0000255}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TCAAATATATCTATATCAATC	0.343																																						uc002yqh.2		NA																	0				ovary(4)|skin(1)	5						c.(2722-2724)GAT>AAT		synaptojanin 1 isoform a							86.0	89.0	88.0					21																	34029187		2203	4300	6503	SO:0001583	missense	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34029187C>T	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.2605G>A	21.37:g.34029187C>T	ENSP00000322234:p.Asp869Asn					SYNJ1_uc011ads.1_Missense_Mutation_p.D864N|SYNJ1_uc002yqf.2_Missense_Mutation_p.D869N|SYNJ1_uc002yqg.2_Missense_Mutation_p.D864N|SYNJ1_uc002yqi.2_Missense_Mutation_p.D908N	p.D908N	NM_003895	NP_003886	O43426	SYNJ1_HUMAN			21	2722	-			869			Catalytic (Potential).		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	c.2722G>A	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	C	35	5.528471	0.96446	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229	D;D;D;D;D	0.95171	-3.63;-3.63;-3.63;-3.63;-3.63	5.64	5.64	0.86602	Endonuclease/exonuclease/phosphatase (1);Domain of unknown function DUF1866 (1);Inositol polyphosphate-related phosphatase (1);	0.107337	0.64402	D	0.000002	D	0.96417	0.8831	M	0.62723	1.935	0.80722	D	1	P;B;D;P;D	0.61697	0.804;0.417;0.983;0.616;0.99	B;B;P;P;P	0.61800	0.376;0.348;0.894;0.475;0.882	D	0.96056	0.9035	10	0.52906	T	0.07	.	19.6888	0.95989	0.0:1.0:0.0:0.0	.	864;908;869;869;869	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	N	864;869;908;908;869	ENSP00000371931:D864N;ENSP00000349903:D869N;ENSP00000371939:D908N;ENSP00000409667:D908N;ENSP00000322234:D869N	ENSP00000322234:D869N	D	-	1	0	SYNJ1	32951058	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.625000	0.83145	2.652000	0.90054	0.591000	0.81541	GAT		0.343	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				6	34	0	0	0	0	6	34				
PCNT	5116	broad.mit.edu	37	21	47773909	47773909	+	Missense_Mutation	SNP	G	G	A	rs367720344		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr21:47773909G>A	ENST00000359568.5	+	11	1795	c.1688G>A	c.(1687-1689)tGt>tAt	p.C563Y	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	563	Glu-rich.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGGTTGTCCTGTGTGGGTTTA	0.493																																						uc002zji.3		NA																	0				ovary(4)|breast(2)|pancreas(2)	8						c.(1687-1689)TGT>TAT		pericentrin		G	TYR/CYS	0,4406		0,0,2203	135.0	133.0	133.0		1688	3.1	0.0	21		133	1,8599	1.2+/-3.3	0,1,4299	no	missense	PCNT	NM_006031.5	194	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	563/3337	47773909	1,13005	2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47773909G>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.1688G>A	21.37:g.47773909G>A	ENSP00000352572:p.Cys563Tyr					PCNT_uc002zjj.2_Missense_Mutation_p.C445Y	p.C563Y	NM_006031	NP_006022	O95613	PCNT_HUMAN			11	1795	+	Breast(49;0.112)		563			Glu-rich.		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.1688G>A	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.239880	0.22711	0.0	1.16E-4	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.01484	4.84	4.2	3.13	0.36017	.	.	.	.	.	T	0.02193	0.0068	L	0.43152	1.355	0.09310	N	1	D;P	0.55605	0.972;0.952	B;B	0.41646	0.362;0.198	T	0.50423	-0.8830	9	0.56958	D	0.05	.	8.3861	0.32501	0.0:0.0:0.6505:0.3495	.	445;563	O95613-2;O95613	.;PCNT_HUMAN	Y	563;550	ENSP00000352572:C563Y	ENSP00000338675:C550Y	C	+	2	0	PCNT	46598337	0.256000	0.24012	0.036000	0.18154	0.001000	0.01503	1.141000	0.31528	2.059000	0.61396	0.558000	0.71614	TGT		0.493	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		10	22	0	0	0	0	10	22				
DIP2A	23181	broad.mit.edu	37	21	47931456	47931456	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr21:47931456C>T	ENST00000417564.2	+	8	1052	c.1031C>T	c.(1030-1032)aCa>aTa	p.T344I	DIP2A_ENST00000400274.1_Missense_Mutation_p.T340I|DIP2A_ENST00000457905.3_Missense_Mutation_p.T344I|DIP2A_ENST00000466639.1_Missense_Mutation_p.T301I|DIP2A_ENST00000427143.2_Missense_Mutation_p.T280I|DIP2A_ENST00000435722.3_Missense_Mutation_p.T344I|DIP2A_ENST00000318711.7_Missense_Mutation_p.T345I			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	344					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CGCTGGGGCACAACACAGCCC	0.582																																						uc002zjo.2		NA																	0				ovary(2)	2						c.(1030-1032)ACA>ATA		disco-interacting protein 2A isoform a							50.0	51.0	51.0					21																	47931456		2011	4173	6184	SO:0001583	missense	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47931456C>T	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.1031C>T	21.37:g.47931456C>T	ENSP00000392066:p.Thr344Ile					DIP2A_uc011afy.1_Missense_Mutation_p.T280I|DIP2A_uc011afz.1_Missense_Mutation_p.T340I|DIP2A_uc002zjl.2_Missense_Mutation_p.T344I|DIP2A_uc002zjm.2_Missense_Mutation_p.T344I|DIP2A_uc010gql.2_Missense_Mutation_p.T301I|DIP2A_uc002zjn.2_Missense_Mutation_p.T344I|DIP2A_uc002zjp.1_Missense_Mutation_p.T89I	p.T344I	NM_015151	NP_055966	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	8	1214	+	Breast(49;0.0933)		344					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	c.1031C>T	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.468347	0.43839	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83	5.44	4.55	0.56014	.	0.133554	0.49916	D	0.000136	T	0.64746	0.2626	M	0.78916	2.43	0.51767	D	0.999937	B;B;D;P;P;B	0.67145	0.286;0.389;0.996;0.602;0.521;0.222	B;B;P;P;B;B	0.61003	0.184;0.213;0.882;0.544;0.328;0.049	T	0.67428	-0.5673	10	0.46703	T	0.11	-7.276	13.1945	0.59730	0.0:0.9234:0.0:0.0766	.	345;280;301;344;344;344	E9PER1;E7EMA5;Q14689-3;Q14689;Q14689-4;Q14689-2	.;.;.;DIP2A_HUMAN;.;.	I	340;280;345;301;344;301;344;344	ENSP00000383133:T340I;ENSP00000400528:T280I;ENSP00000323633:T345I;ENSP00000393434:T344I;ENSP00000430249:T301I;ENSP00000415089:T344I;ENSP00000392066:T344I	ENSP00000323633:T345I	T	+	2	0	DIP2A	46755884	1.000000	0.71417	0.264000	0.24511	0.304000	0.27724	4.726000	0.61986	1.290000	0.44636	0.563000	0.77884	ACA		0.582	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		6	26	0	0	0	0	6	26				
ZNF280A	129025	broad.mit.edu	37	22	22868532	22868532	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr22:22868532G>C	ENST00000302097.3	-	2	1675	c.1423C>G	c.(1423-1425)Caa>Gaa	p.Q475E		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	475					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTAAATGTTTGATGGTCCTTG	0.458																																						uc002zwe.2		NA																	0				ovary(1)	1						c.(1423-1425)CAA>GAA		zinc finger protein 280A							136.0	123.0	127.0					22																	22868532		2203	4300	6503	SO:0001583	missense	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22868532G>C	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.1423C>G	22.37:g.22868532G>C	ENSP00000302855:p.Gln475Glu					LOC96610_uc011aim.1_Intron	p.Q475E	NM_080740	NP_542778	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	1676	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	475						Missense_Mutation	SNP	ENST00000302097.3	37	c.1423C>G	CCDS13800.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580985	0.28180	.	.	ENSG00000169548	ENST00000302097	T	0.01145	5.27	3.76	2.7	0.31948	.	.	.	.	.	T	0.01592	0.0051	L	0.42245	1.32	0.09310	N	1	P	0.46706	0.883	B	0.42112	0.376	T	0.51521	-0.8695	9	0.87932	D	0	2.161	8.643	0.33989	0.0:0.0:0.584:0.416	.	475	P59817	Z280A_HUMAN	E	475	ENSP00000302855:Q475E	ENSP00000302855:Q475E	Q	-	1	0	ZNF280A	21198532	0.015000	0.18098	0.005000	0.12908	0.309000	0.27889	0.465000	0.22004	1.097000	0.41459	0.655000	0.94253	CAA		0.458	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		27	83	0	0	0	0	27	83				
SLC5A1	6523	broad.mit.edu	37	22	32479071	32479071	+	Silent	SNP	G	G	A	rs184213779		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr22:32479071G>A	ENST00000266088.4	+	7	844	c.594G>A	c.(592-594)gcG>gcA	p.A198A	SLC5A1_ENST00000543737.1_Silent_p.A71A	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	198					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)	p.A198A(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	GGGGCCTGGCGGCGGTGATTT	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		21964	0.001		0.0	False		,,,				2504	0.0					uc003amc.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(592-594)GCG>GCA		solute carrier family 5 (sodium/glucose							123.0	95.0	105.0					22																	32479071		2203	4300	6503	SO:0001819	synonymous_variant	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32479071G>A		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.594G>A	22.37:g.32479071G>A						SLC5A1_uc011alz.1_Silent_p.A71A	p.A198A	NM_000343	NP_000334	P13866	SC5A1_HUMAN			7	826	+			198			Helical; (Potential).		B2R7E2|B7Z4Q9|B7ZA69	Silent	SNP	ENST00000266088.4	37	c.594G>A	CCDS13902.1																																																																																				0.572	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		7	45	0	0	0	0	7	45				
RFPL2	10739	broad.mit.edu	37	22	32587270	32587270	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr22:32587270C>A	ENST00000400237.1	-	5	1561	c.626G>T	c.(625-627)cGa>cTa	p.R209L	RFPL2_ENST00000400236.3_Missense_Mutation_p.R119L|RFPL2_ENST00000248983.4_Missense_Mutation_p.R119L|RFPL2_ENST00000248980.4_Missense_Mutation_p.R148L|RFPL2_ENST00000489846.1_5'UTR			O75678	RFPL2_HUMAN	ret finger protein-like 2	209	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						GCGCCCACTTCGGACGCTCCT	0.532																																						uc003amg.3		NA																	0				skin(1)	1						c.(625-627)CGA>CTA		ret finger protein-like 2 isoform 2							129.0	118.0	122.0					22																	32587270		2203	4300	6503	SO:0001583	missense	10739						zinc ion binding	g.chr22:32587270C>A	AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"""RING-type (C3HC4) zinc fingers"""	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.626G>T	22.37:g.32587270C>A	ENSP00000383096:p.Arg209Leu					RFPL2_uc003ame.3_Missense_Mutation_p.R148L|RFPL2_uc003amf.3_Missense_Mutation_p.R119L|RFPL2_uc003amh.3_Missense_Mutation_p.R119L	p.R209L	NM_001098527	NP_001091997	O75678	RFPL2_HUMAN			5	1562	-			209			B30.2/SPRY.			Missense_Mutation	SNP	ENST00000400237.1	37	c.626G>T	CCDS43009.2	.	.	.	.	.	.	.	.	.	.	C	8.532	0.871257	0.17322	.	.	ENSG00000128253	ENST00000248980;ENST00000248983;ENST00000400236;ENST00000400237	T;T;T;T	0.13196	2.61;2.61;2.61;2.61	0.351	-0.702	0.11265	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.24967	0.0606	M	0.86953	2.85	0.09310	N	1	P;P	0.47962	0.903;0.622	P;B	0.49561	0.615;0.332	T	0.11348	-1.0591	9	0.66056	D	0.02	.	4.5359	0.12028	0.0:0.6821:0.0:0.3179	.	209;148	O75678;O75678-3	RFPL2_HUMAN;.	L	148;119;119;209	ENSP00000248980:R148L;ENSP00000248983:R119L;ENSP00000383095:R119L;ENSP00000383096:R209L	ENSP00000248980:R148L	R	-	2	0	RFPL2	30917270	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.374000	0.20501	-0.502000	0.06596	-0.490000	0.04691	CGA		0.532	RFPL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075262.2	NM_006605		24	94	1	0	2.22e-12	3.1e-12	24	94				
CELSR1	9620	broad.mit.edu	37	22	46790128	46790128	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr22:46790128C>A	ENST00000262738.3	-	14	5874	c.5875G>T	c.(5875-5877)Ggg>Tgg	p.G1959W		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1959	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ACGGGGTTCCCCCACCAGCCT	0.572																																						uc003bhw.1		NA																	0				lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(5875-5877)GGG>TGG		cadherin EGF LAG seven-pass G-type receptor 1							48.0	42.0	44.0					22																	46790128		2203	4300	6503	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46790128C>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.5875G>T	22.37:g.46790128C>A	ENSP00000262738:p.Gly1959Trp					CELSR1_uc011arc.1_Missense_Mutation_p.G280W	p.G1959W	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	14	5875	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1959			Extracellular (Potential).|EGF-like 7; calcium-binding.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.5875G>T	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872299	0.72180	.	.	ENSG00000075275	ENST00000262738	T	0.71817	-0.6	3.47	3.47	0.39725	.	0.000000	0.64402	U	0.000002	D	0.83834	0.5340	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87081	0.2166	10	0.87932	D	0	.	14.9317	0.70919	0.0:1.0:0.0:0.0	.	280;1959	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	W	1959	ENSP00000262738:G1959W	ENSP00000262738:G1959W	G	-	1	0	CELSR1	45168792	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	7.222000	0.78025	1.663000	0.50791	0.462000	0.41574	GGG		0.572	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		12	35	1	0	7.04e-09	9.43e-09	12	35				
FBLN2	2199	broad.mit.edu	37	3	13670762	13670762	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:13670762C>T	ENST00000295760.7	+	12	2740	c.2671C>T	c.(2671-2673)Cag>Tag	p.Q891*	FBLN2_ENST00000404922.3_Nonsense_Mutation_p.Q938*|FBLN2_ENST00000492059.1_Nonsense_Mutation_p.Q938*|FBLN2_ENST00000535798.1_Nonsense_Mutation_p.Q917*	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	891	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AGCCGGCTTTCAGCGGGATGC	0.642																																						uc011avb.1		NA																	0				ovary(1)	1						c.(2671-2673)CAG>TAG		fibulin 2 isoform b precursor							29.0	34.0	33.0					3																	13670762		2082	4208	6290	SO:0001587	stop_gained	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13670762C>T	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.2671C>T	3.37:g.13670762C>T	ENSP00000295760:p.Gln891*					FBLN2_uc011auz.1_Nonsense_Mutation_p.Q917*|FBLN2_uc011ava.1_Nonsense_Mutation_p.Q938*|FBLN2_uc011avc.1_Nonsense_Mutation_p.Q938*	p.Q891*	NM_001998	NP_001989	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		12	2796	+			891			EGF-like 6; calcium-binding.		B7Z9C5|Q8IUI0|Q8IUI1	Nonsense_Mutation	SNP	ENST00000295760.7	37	c.2671C>T	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	C	40	8.291446	0.98745	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	.	.	.	4.91	4.91	0.64330	.	0.063181	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	18.095	0.89487	0.0:1.0:0.0:0.0	.	.	.	.	X	917;938;891;938	.	ENSP00000295760:Q891X	Q	+	1	0	FBLN2	13645763	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	3.175000	0.50855	2.258000	0.74832	0.655000	0.94253	CAG		0.642	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		7	18	0	0	0	0	7	18				
TCAIM	285343	broad.mit.edu	37	3	44442777	44442777	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:44442777A>G	ENST00000342649.4	+	10	1628	c.1201A>G	c.(1201-1203)Att>Gtt	p.I401V	TCAIM_ENST00000417237.1_Missense_Mutation_p.I401V	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	401						mitochondrion (GO:0005739)											CCAGTGGTTTATTCTCACCAA	0.393																																						uc010him.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1201-1203)ATT>GTT		hypothetical protein LOC285343 isoform 1							121.0	114.0	116.0					3																	44442777		2203	4300	6503	SO:0001583	missense	285343					mitochondrion		g.chr3:44442777A>G		CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"""tolerance associated gene-1"""		"""chromosome 3 open reading frame 23"""	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.1201A>G	3.37:g.44442777A>G	ENSP00000341539:p.Ile401Val					C3orf23_uc003cnd.3_Missense_Mutation_p.I401V|C3orf23_uc003cne.3_Missense_Mutation_p.I257V	p.I401V	NM_173826	NP_776187	Q8N3R3	CC023_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)	10	1446	+			401					A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Missense_Mutation	SNP	ENST00000342649.4	37	c.1201A>G	CCDS2712.1	.	.	.	.	.	.	.	.	.	.	A	15.40	2.822874	0.50739	.	.	ENSG00000179152	ENST00000417237;ENST00000342649	T;T	0.53206	0.63;0.63	5.6	4.39	0.52855	.	0.174514	0.52532	D	0.000074	T	0.44371	0.1290	L	0.57536	1.79	0.31020	N	0.718265	B	0.23185	0.081	B	0.21917	0.037	T	0.54596	-0.8270	10	0.66056	D	0.02	.	11.6597	0.51339	0.7208:0.2792:0.0:0.0	.	401	Q8N3R3	CC023_HUMAN	V	401	ENSP00000402581:I401V;ENSP00000341539:I401V	ENSP00000341539:I401V	I	+	1	0	C3orf23	44417781	0.998000	0.40836	0.833000	0.33012	0.991000	0.79684	1.509000	0.35780	2.135000	0.66039	0.454000	0.30748	ATT		0.393	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256655.2	NM_173826		11	37	0	0	0	0	11	37				
WNT5A	7474	broad.mit.edu	37	3	55513456	55513456	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:55513456T>C	ENST00000474267.1	-	4	798	c.277A>G	c.(277-279)Atc>Gtc	p.I93V	WNT5A_ENST00000264634.4_Missense_Mutation_p.I93V|WNT5A_ENST00000497027.1_Missense_Mutation_p.I78V			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	93					activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|ameboidal cell migration (GO:0001667)|anterior/posterior axis specification, embryo (GO:0008595)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular protein localization (GO:0034613)|cellular response to calcium ion (GO:0071277)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cervix development (GO:0060067)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|dopaminergic neuron differentiation (GO:0071542)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system development (GO:0048706)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity (GO:0001736)|face development (GO:0060324)|genitalia development (GO:0048806)|heart looping (GO:0001947)|hematopoietic stem cell proliferation (GO:0071425)|hindgut morphogenesis (GO:0007442)|hypophysis morphogenesis (GO:0048850)|keratinocyte differentiation (GO:0030216)|lateral sprouting involved in mammary gland duct morphogenesis (GO:0060599)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|male gonad development (GO:0008584)|mammary gland branching involved in thelarche (GO:0060744)|mesenchymal-epithelial cell signaling (GO:0060638)|midgut development (GO:0007494)|negative chemotaxis (GO:0050919)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of synapse assembly (GO:0051964)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|olfactory bulb interneuron development (GO:0021891)|optic cup formation involved in camera-type eye development (GO:0003408)|palate development (GO:0060021)|planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:0061350)|planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:0061349)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar cell polarity pathway involved in outflow tract morphogenesis (GO:0061347)|planar cell polarity pathway involved in pericardium morphogenesis (GO:0061354)|planar cell polarity pathway involved in ventricular septum morphogenesis (GO:0061348)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of meiosis (GO:0045836)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ossification (GO:0045778)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of T cell chemotaxis (GO:0010820)|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)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|protein phosphorylation (GO:0006468)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|response to organic substance (GO:0010033)|somitogenesis (GO:0001756)|type B pancreatic cell development (GO:0003323)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|wound healing (GO:0042060)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor tyrosine kinase-like orphan receptor binding (GO:0005115)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CCTTCTCCGATGTACTGCATG	0.483																																						uc003dhn.2		NA																	0					0						c.(277-279)ATC>GTC		wingless-type MMTV integration site family,							155.0	147.0	150.0					3																	55513456		2014	4177	6191	SO:0001583	missense	7474				activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:55513456T>C	L20861	CCDS46850.1, CCDS58835.1	3p21-p14	2013-02-28			ENSG00000114251	ENSG00000114251		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12784	protein-coding gene	gene with protein product	"""WNT-5A protein"""	164975				8288227	Standard	NM_001256105		Approved	hWNT5A	uc010hmw.4	P41221	OTTHUMG00000158361	ENST00000474267.1:c.277A>G	3.37:g.55513456T>C	ENSP00000417310:p.Ile93Val					WNT5A_uc003dhm.2_Missense_Mutation_p.I78V|WNT5A_uc010hmw.2_Missense_Mutation_p.I78V|WNT5A_uc010hmx.2_Missense_Mutation_p.I4V	p.I93V	NM_003392	NP_003383	P41221	WNT5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)	3	595	-			93					A8K4A4|Q6P278	Missense_Mutation	SNP	ENST00000474267.1	37	c.277A>G	CCDS46850.1	.	.	.	.	.	.	.	.	.	.	T	9.879	1.201152	0.22121	.	.	ENSG00000114251	ENST00000474267;ENST00000264634;ENST00000536765;ENST00000497027;ENST00000482079	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.53610	0.1807	N	0.05230	-0.09	0.80722	D	1	P	0.40476	0.718	B	0.39771	0.309	T	0.58836	-0.7566	10	0.06757	T	0.87	.	16.3426	0.83092	0.0:0.0:0.0:1.0	.	93	P41221	WNT5A_HUMAN	V	93;93;4;78;78	ENSP00000417310:I93V;ENSP00000264634:I93V;ENSP00000420104:I78V;ENSP00000418184:I78V	ENSP00000264634:I93V	I	-	1	0	WNT5A	55488496	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.261000	0.72509	2.317000	0.78254	0.460000	0.39030	ATC		0.483	WNT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350793.3	NM_003392		31	81	0	0	0	0	31	81				
ATXN7	6314	broad.mit.edu	37	3	63898838	63898838	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:63898838G>A	ENST00000295900.6	+	4	881	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	ATXN7_ENST00000487717.1_Missense_Mutation_p.E111K|ATXN7_ENST00000398590.3_Missense_Mutation_p.E111K|ATXN7_ENST00000538065.1_Missense_Mutation_p.E111K	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	111					cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CCTAGGGACAGAATTGGACGA	0.572																																						uc003dlw.3		NA																	0					0						c.(331-333)GAA>AAA		ataxin 7 isoform a							76.0	82.0	80.0					3																	63898838		2020	4187	6207	SO:0001583	missense	6314				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	g.chr3:63898838G>A	AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.331G>A	3.37:g.63898838G>A	ENSP00000295900:p.Glu111Lys					ATXN7_uc003dlv.2_Missense_Mutation_p.E111K|ATXN7_uc010hnv.2_Missense_Mutation_p.E111K	p.E111K	NM_000333	NP_000324	O15265	ATX7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	4	884	+		Prostate(884;0.0181)	111					B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Missense_Mutation	SNP	ENST00000295900.6	37	c.331G>A	CCDS43102.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.520861|5.520861	0.96416|0.96416	.|.	.|.	ENSG00000163635|ENSG00000163635	ENST00000398590;ENST00000295900;ENST00000487717;ENST00000538065|ENST00000539129	T;T;T;T|.	0.30182|.	1.54;1.54;1.54;1.54|.	4.59|4.59	4.59|4.59	0.56863|0.56863	.|.	0.063397|.	0.64402|.	D|.	0.000010|.	T|T	0.68604|0.68604	0.3019|0.3019	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D;P|.	0.55385|.	0.971;0.651|.	P;B|.	0.55749|.	0.783;0.104|.	T|T	0.67229|0.67229	-0.5723|-0.5723	10|5	0.72032|.	D|.	0.01|.	-10.0835|-10.0835	17.4101|17.4101	0.87482|0.87482	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	111;111|.	O15265-2;O15265|.	.;ATX7_HUMAN|.	K|K	111|111	ENSP00000381590:E111K;ENSP00000295900:E111K;ENSP00000420234:E111K;ENSP00000439585:E111K|.	ENSP00000295900:E111K|.	E|R	+|+	1|2	0|0	ATXN7|ATXN7	63873878|63873878	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	8.664000|8.664000	0.91139|0.91139	2.075000|2.075000	0.62263|0.62263	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.572	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333		8	25	0	0	0	0	8	25				
SUCLG2	8801	broad.mit.edu	37	3	67571002	67571002	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:67571002C>A	ENST00000307227.5	-	5	501	c.474G>T	c.(472-474)atG>atT	p.M158I	SUCLG2_ENST00000493112.1_Missense_Mutation_p.M158I|SUCLG2_ENST00000492795.1_Missense_Mutation_p.M158I	NM_003848.3	NP_003839.2	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming, beta subunit	158	ATP-grasp.				cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP binding (GO:0005524)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	AGGACCGGTCCATCAGAATTG	0.512																																						uc003dna.3		NA																	0				central_nervous_system(1)|skin(1)	2						c.(472-474)ATG>ATT		succinate-CoA ligase, GDP-forming beta subunit	Succinic acid(DB00139)						76.0	78.0	77.0					3																	67571002		1842	4096	5938	SO:0001583	missense	8801				succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity	g.chr3:67571002C>A	AF058954	CCDS43104.1, CCDS54605.1	3p14.3	2004-05-17			ENSG00000172340	ENSG00000172340	6.2.1.4		11450	protein-coding gene	gene with protein product		603922				9765291	Standard	NM_001177599		Approved		uc003dna.4	Q96I99	OTTHUMG00000158740	ENST00000307227.5:c.474G>T	3.37:g.67571002C>A	ENSP00000307432:p.Met158Ile					SUCLG2_uc010hob.2_Missense_Mutation_p.M39I	p.M158I	NM_003848	NP_003839	Q96I99	SUCB2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	5	502	-		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)	158			ATP-grasp.		C9JVT2|O95195|Q6NUH7|Q86VX8|Q8WUQ1	Missense_Mutation	SNP	ENST00000307227.5	37	c.474G>T	CCDS43104.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.241603|5.241603	0.95272|0.95272	.|.	.|.	ENSG00000172340|ENSG00000172340	ENST00000460567|ENST00000493112;ENST00000307227;ENST00000541608;ENST00000492795	.|T;T;T	.|0.62232	.|0.04;0.04;0.04	5.7|5.7	5.7|5.7	0.88788|0.88788	.|ATP-grasp fold, subdomain 2 (1);ATP-grasp fold, succinyl-CoA synthetase-type (1);	.|0.035434	.|0.85682	.|D	.|0.000000	.|T	.|0.75845	.|0.3905	L|L	0.55990|0.55990	1.75|1.75	0.80722|0.80722	D|D	1|1	.|D;D	.|0.60160	.|0.987;0.967	.|D;P	.|0.65987	.|0.94;0.906	.|T	.|0.74604	.|-0.3610	.|10	.|0.49607	.|T	.|0.09	.|.	19.8481|19.8481	0.96728|0.96728	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|110;158	.|F5H4S7;Q96I99	.|.;SUCB2_HUMAN	X|I	50|158;158;110;158	.|ENSP00000419325:M158I;ENSP00000307432:M158I;ENSP00000417589:M158I	.|ENSP00000307432:M158I	G|M	-|-	1|3	0|0	SUCLG2|SUCLG2	67653692|67653692	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.666000|7.666000	0.83877|0.83877	2.705000|2.705000	0.92388|0.92388	0.650000|0.650000	0.86243|0.86243	GGA|ATG		0.512	SUCLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351993.1	NM_003848		15	80	1	0	1.02e-10	1.41e-10	15	80				
EPHA3	2042	broad.mit.edu	37	3	89480488	89480488	+	Silent	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:89480488A>T	ENST00000336596.2	+	13	2550	c.2325A>T	c.(2323-2325)ccA>ccT	p.P775P	EPHA3_ENST00000494014.1_Silent_p.P775P	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	775	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AGGATGACCCAGAAGCTGCTT	0.393										TSP Lung(6;0.00050)																												uc003dqy.2		NA																	0				lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(2323-2325)CCA>CCT		ephrin receptor EphA3 isoform a precursor							106.0	102.0	103.0					3																	89480488		2203	4300	6503	SO:0001819	synonymous_variant	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89480488A>T	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2325A>T	3.37:g.89480488A>T		TSP Lung(6;0.00050)				EPHA3_uc010hon.1_RNA	p.P775P	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	13	2550	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	775			Cytoplasmic (Potential).|Protein kinase.		Q9H2V3|Q9H2V4	Silent	SNP	ENST00000336596.2	37	c.2325A>T	CCDS2922.1																																																																																				0.393	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		7	37	0	0	0	0	7	37				
DPPA2	151871	broad.mit.edu	37	3	109031461	109031461	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:109031461C>T	ENST00000478945.1	-	3	358	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	38					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)	p.E38K(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCCATTTGTTCCATATTTGCG	0.418																																						uc003dxo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(112-114)GAA>AAA		developmental pluripotency associated 2							189.0	172.0	178.0					3																	109031461		2203	4300	6503	SO:0001583	missense	151871					nucleus	nucleic acid binding	g.chr3:109031461C>T	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.112G>A	3.37:g.109031461C>T	ENSP00000417710:p.Glu38Lys						p.E38K	NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN			3	359	-			38					Q8WVF0	Missense_Mutation	SNP	ENST00000478945.1	37	c.112G>A	CCDS2956.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.692090	0.30052	.	.	ENSG00000163530	ENST00000478945	T	0.55588	0.51	3.63	2.76	0.32466	.	0.455727	0.18584	N	0.136960	T	0.38506	0.1043	L	0.40543	1.245	0.09310	N	1	P	0.43750	0.816	B	0.39706	0.307	T	0.13764	-1.0497	10	0.30078	T	0.28	-0.8109	6.9553	0.24568	0.0:0.8764:0.0:0.1236	.	38	Q7Z7J5	DPPA2_HUMAN	K	38	ENSP00000417710:E38K	ENSP00000417710:E38K	E	-	1	0	DPPA2	110514151	0.000000	0.05858	0.007000	0.13788	0.197000	0.23852	0.034000	0.13776	1.110000	0.41699	0.561000	0.74099	GAA		0.418	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		23	83	0	0	0	0	23	83				
DPPA2	151871	broad.mit.edu	37	3	109031510	109031510	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:109031510C>T	ENST00000478945.1	-	3	309	c.63G>A	c.(61-63)gaG>gaA	p.E21E		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	21					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCACACTTTCCTCATCATCTA	0.408																																						uc003dxo.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(61-63)GAG>GAA		developmental pluripotency associated 2							131.0	121.0	124.0					3																	109031510		2203	4300	6503	SO:0001819	synonymous_variant	151871					nucleus	nucleic acid binding	g.chr3:109031510C>T	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.63G>A	3.37:g.109031510C>T							p.E21E	NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN			3	310	-			21					Q8WVF0	Silent	SNP	ENST00000478945.1	37	c.63G>A	CCDS2956.1																																																																																				0.408	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		15	79	0	0	0	0	15	79				
FBXO40	51725	broad.mit.edu	37	3	121345686	121345686	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:121345686C>A	ENST00000338040.4	+	4	2473	c.2059C>A	c.(2059-2061)Ccc>Acc	p.P687T		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	687					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P687A(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CATGTGTCAGCCCCGTGAGCA	0.483																																						uc003eeg.2		NA																	1	Substitution - Missense(1)	p.P687A(1)	lung(1)	ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(2059-2061)CCC>ACC		F-box protein 40							99.0	97.0	98.0					3																	121345686		2203	4300	6503	SO:0001583	missense	51725				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:121345686C>A	AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.2059C>A	3.37:g.121345686C>A	ENSP00000337510:p.Pro687Thr						p.P687T	NM_016298	NP_057382	Q9UH90	FBX40_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	4	2269	+			687					B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	ENST00000338040.4	37	c.2059C>A	CCDS33835.1	.	.	.	.	.	.	.	.	.	.	C	3.155	-0.173382	0.06421	.	.	ENSG00000163833	ENST00000338040	T	0.27402	1.67	6.17	0.985	0.19779	.	0.828746	0.11223	N	0.586478	T	0.08088	0.0202	N	0.01874	-0.695	0.20074	N	0.999935	B	0.02656	0.0	B	0.01281	0.0	T	0.35847	-0.9772	10	0.02654	T	1	-3.7419	2.7848	0.05371	0.2552:0.4792:0.124:0.1416	.	687	Q9UH90	FBX40_HUMAN	T	687	ENSP00000337510:P687T	ENSP00000337510:P687T	P	+	1	0	FBXO40	122828376	0.006000	0.16342	0.960000	0.40013	0.619000	0.37552	-0.348000	0.07740	0.152000	0.19188	-0.136000	0.14681	CCC		0.483	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298		25	91	1	0	3.08e-08	4.05e-08	25	91				
IGSF10	285313	broad.mit.edu	37	3	151163676	151163676	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:151163676T>A	ENST00000282466.3	-	4	4092	c.4093A>T	c.(4093-4095)Agt>Tgt	p.S1365C		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1365					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAGCCAGAACTCTGGTCTGGA	0.473																																						uc011bod.1		NA																	0				skin(7)|ovary(5)|central_nervous_system(1)	13						c.(4093-4095)AGT>TGT		immunoglobulin superfamily, member 10 precursor							232.0	223.0	226.0					3																	151163676		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151163676T>A	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.4093A>T	3.37:g.151163676T>A	ENSP00000282466:p.Ser1365Cys						p.S1365C	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	4093	-			1365					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.4093A>T	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	T	14.94	2.684225	0.47991	.	.	ENSG00000152580	ENST00000282466	T	0.69306	-0.39	4.52	-2.36	0.06663	.	1.274180	0.05485	N	0.555443	T	0.53802	0.1819	N	0.24115	0.695	0.09310	N	1	D	0.54047	0.964	B	0.43754	0.43	T	0.54669	-0.8259	10	0.62326	D	0.03	.	9.8659	0.41142	0.0:0.4067:0.0:0.5933	.	1365	Q6WRI0	IGS10_HUMAN	C	1365	ENSP00000282466:S1365C	ENSP00000282466:S1365C	S	-	1	0	IGSF10	152646366	0.000000	0.05858	0.000000	0.03702	0.133000	0.20885	0.066000	0.14489	-0.333000	0.08476	-0.353000	0.07706	AGT		0.473	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		51	303	0	0	0	0	51	303				
PLCH1	23007	broad.mit.edu	37	3	155200696	155200696	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:155200696T>G	ENST00000340059.7	-	23	3142	c.3143A>C	c.(3142-3144)cAc>cCc	p.H1048P	PLCH1_ENST00000460012.1_Missense_Mutation_p.H1010P|PLCH1-AS2_ENST00000472913.1_RNA|PLCH1_ENST00000414191.1_Missense_Mutation_p.H1010P|PLCH1_ENST00000334686.6_Missense_Mutation_p.H1010P|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1048					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GACTGACATGTGGGCAGTAGA	0.488																																						uc011bok.1		NA																	0				skin(3)|ovary(1)	4						c.(3142-3144)CAC>CCC		phospholipase C eta 1 isoform a							158.0	154.0	155.0					3																	155200696		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155200696T>G	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.3143A>C	3.37:g.155200696T>G	ENSP00000345988:p.His1048Pro					PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Missense_Mutation_p.H1010P	p.H1048P	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	3420	-			1048					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.3143A>C	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	T	8.203	0.798677	0.16397	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.20738	2.05;2.05;2.05;2.05	5.36	1.63	0.23807	.	1.713730	0.02560	N	0.096601	T	0.13798	0.0334	N	0.14661	0.345	0.09310	N	1	B;B	0.24533	0.0;0.105	B;B	0.17722	0.0;0.019	T	0.24728	-1.0152	10	0.27785	T	0.31	.	7.4586	0.27280	0.0:0.2637:0.0:0.7363	.	1010;1048	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	P	1010;1048;1010;1010	ENSP00000417502:H1010P;ENSP00000345988:H1048P;ENSP00000335469:H1010P;ENSP00000412977:H1010P	ENSP00000335469:H1010P	H	-	2	0	PLCH1	156683390	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.917000	0.04025	0.043000	0.15746	0.482000	0.46254	CAC		0.488	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		24	90	0	0	0	0	24	90				
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159606694	159606694	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:159606694T>A	ENST00000460298.1	+	6	1401	c.1160T>A	c.(1159-1161)cTa>cAa	p.L387Q	IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.L476Q|SCHIP1_ENST00000482804.1_Missense_Mutation_p.L200Q|IQCJ-SCHIP1_ENST00000527095.1_Missense_Mutation_p.L195Q|IQCJ-SCHIP1_ENST00000337808.6_Missense_Mutation_p.L427Q|IQCJ-SCHIP1_ENST00000485419.1_Missense_Mutation_p.L503Q|IQCJ-SCHIP1_ENST00000412423.2_Missense_Mutation_p.L414Q|SCHIP1_ENST00000445224.2_Missense_Mutation_p.L184Q					IQCJ-SCHIP1 readthrough											central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						ATTGGGCAGCTACAAGTGATA	0.383																																						uc003fcs.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1279-1281)CTA>CAA		schwannomin interacting protein 1							134.0	123.0	127.0					3																	159606694		2203	4300	6503	SO:0001583	missense	29970					cytoplasm	identical protein binding|protein binding	g.chr3:159606694T>A		CCDS56289.1, CCDS56291.1	3q25.33	2011-03-24			ENSG00000250588	ENSG00000250588			38842	other	readthrough							Standard	NM_001197113		Approved		uc003fcq.2		OTTHUMG00000162426	ENST00000460298.1:c.1160T>A	3.37:g.159606694T>A	ENSP00000417305:p.Leu387Gln					SCHIP1_uc003fcq.1_Missense_Mutation_p.L503Q|SCHIP1_uc003fcr.1_Missense_Mutation_p.L416Q|SCHIP1_uc003fct.1_Missense_Mutation_p.L414Q|SCHIP1_uc010hvz.1_Missense_Mutation_p.L387Q|SCHIP1_uc003fcu.1_Missense_Mutation_p.L184Q|SCHIP1_uc003fcv.1_Missense_Mutation_p.L200Q	p.L427Q	NM_014575	NP_055390	Q9P0W5	SCHI1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)		6	1346	+			427			Potential.			Missense_Mutation	SNP	ENST00000460298.1	37	c.1280T>A		.	.	.	.	.	.	.	.	.	.	T	27.0	4.793760	0.90453	.	.	ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000151967;ENSG00000151967	ENST00000476809;ENST00000485419;ENST00000337808;ENST00000412423;ENST00000527095;ENST00000460298;ENST00000445224;ENST00000482804	T;T;T;T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.75517	0.3860	M	0.70595	2.14	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;0.999;0.997;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;0.991;0.999;1.0;0.999	T	0.78476	-0.2189	10	0.87932	D	0	.	16.1025	0.81194	0.0:0.0:0.0:1.0	.	387;200;184;414;427;503	C9J366;C9JWG6;Q9P0W5-4;Q9P0W5-2;Q9P0W5;Q9P0W5-5	.;.;.;.;SCHI1_HUMAN;.	Q	476;503;427;414;195;387;184;200	ENSP00000418692:L476Q;ENSP00000420182:L503Q;ENSP00000337239:L427Q;ENSP00000400942:L414Q;ENSP00000436076:L195Q;ENSP00000417305:L387Q;ENSP00000404860:L184Q;ENSP00000419230:L200Q	ENSP00000337239:L427Q	L	+	2	0	SCHIP1;IQCJ-SCHIP1	161089388	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	7.544000	0.82117	2.254000	0.74563	0.533000	0.62120	CTA		0.383	IQCJ-SCHIP1-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000352558.2	NM_001197113		6	54	0	0	0	0	6	54				
ECT2	1894	broad.mit.edu	37	3	172480522	172480522	+	Missense_Mutation	SNP	C	C	T	rs185535917		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr3:172480522C>T	ENST00000392692.3	+	10	1107	c.931C>T	c.(931-933)Ctt>Ttt	p.L311F	ECT2_ENST00000232458.5_Missense_Mutation_p.L280F|ECT2_ENST00000417960.1_Missense_Mutation_p.L279F|ECT2_ENST00000540509.1_Missense_Mutation_p.L311F|ECT2_ENST00000441497.2_Missense_Mutation_p.L280F|ECT2_ENST00000427830.1_Missense_Mutation_p.L280F	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	311	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			ATGCACTCACCTTGTAGTTGA	0.348																																						uc003fii.2		NA																	0				breast(2)|ovary(1)|skin(1)	4						c.(838-840)CTT>TTT		epithelial cell transforming sequence 2 oncogene							101.0	102.0	102.0					3																	172480522		2203	4300	6503	SO:0001583	missense	1894				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr3:172480522C>T	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.931C>T	3.37:g.172480522C>T	ENSP00000376457:p.Leu311Phe					ECT2_uc010hwv.1_Missense_Mutation_p.L311F|ECT2_uc003fih.2_Missense_Mutation_p.L279F|ECT2_uc003fij.1_Missense_Mutation_p.L280F|ECT2_uc003fik.1_Missense_Mutation_p.L280F|ECT2_uc003fil.1_Missense_Mutation_p.L311F	p.L280F	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		9	976	+	Ovarian(172;0.00197)|Breast(254;0.158)		280			BRCT 2.		Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	c.838C>T	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.451733	0.63290	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509	D;D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55;-1.55	5.84	5.84	0.93424	BRCT (3);	0.110355	0.64402	D	0.000008	D	0.90177	0.6930	M	0.77103	2.36	0.58432	D	0.999998	P;D;D;P	0.62365	0.604;0.991;0.981;0.949	B;D;D;P	0.67103	0.265;0.949;0.949;0.885	D	0.90715	0.4630	10	0.72032	D	0.01	-18.8045	13.7675	0.63004	0.0:0.921:0.0:0.079	.	311;311;280;279	Q9H8V3;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.	F	280;311;280;279;280;311	ENSP00000232458:L280F;ENSP00000376457:L311F;ENSP00000401910:L280F;ENSP00000415876:L279F;ENSP00000412259:L280F;ENSP00000443160:L311F	ENSP00000232458:L280F	L	+	1	0	ECT2	173963216	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.830000	0.48136	2.758000	0.94735	0.591000	0.81541	CTT		0.348	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		10	37	0	0	0	0	10	37				
GABRB1	2560	broad.mit.edu	37	4	47163453	47163453	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr4:47163453T>C	ENST00000295454.3	+	4	720	c.428T>C	c.(427-429)cTg>cCg	p.L143P	GABRB1_ENST00000538619.1_Missense_Mutation_p.L73P	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	143					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|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)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					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)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATGATTCGACTGCATCCTGAT	0.388																																						uc003gxh.2		NA																	0				ovary(2)	2						c.(427-429)CTG>CCG		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						151.0	139.0	143.0					4																	47163453		2203	4300	6503	SO:0001583	missense	2560				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.chr4:47163453T>C		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.428T>C	4.37:g.47163453T>C	ENSP00000295454:p.Leu143Pro					GABRB1_uc011bze.1_Missense_Mutation_p.L73P	p.L143P	NM_000812	NP_000803	P18505	GBRB1_HUMAN			4	802	+			143			Extracellular (Probable).		B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.428T>C	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	T	18.01	3.526959	0.64860	.	.	ENSG00000163288	ENST00000513567;ENST00000295454;ENST00000538619	T;T;T	0.80480	-1.38;-1.38;-1.38	4.85	4.85	0.62838	Neurotransmitter-gated ion-channel ligand-binding (3);	0.244211	0.26704	N	0.022930	D	0.90837	0.7122	M	0.92784	3.345	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.977	D	0.92163	0.5737	10	0.87932	D	0	-8.8037	10.3781	0.44094	0.1464:0.0:0.0:0.8536	.	73;143	F5GXV5;P18505	.;GBRB1_HUMAN	P	110;143;73	ENSP00000426753:L110P;ENSP00000295454:L143P;ENSP00000440330:L73P	ENSP00000295454:L143P	L	+	2	0	GABRB1	46858210	1.000000	0.71417	0.826000	0.32828	0.776000	0.43924	6.122000	0.71608	2.030000	0.59900	0.454000	0.30748	CTG		0.388	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			18	92	0	0	0	0	18	92				
FDCSP	260436	broad.mit.edu	37	4	71096932	71096932	+	Silent	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr4:71096932G>A	ENST00000317987.5	+	2	133	c.21G>A	c.(19-21)ctG>ctA	p.L7L		NM_152997.3	NP_694542.1	Q8NFU4	FDSCP_HUMAN	follicular dendritic cell secreted protein	7						extracellular region (GO:0005576)											TTCTCCTCCTGATCACAGCCA	0.348																																						uc003hfd.2		NA																	0				central_nervous_system(1)	1						c.(19-21)CTG>CTA		chromosome 4 open reading frame 7 precursor							95.0	96.0	96.0					4																	71096932		2203	4299	6502	SO:0001819	synonymous_variant	260436					extracellular region		g.chr4:71096932G>A	AF435080	CCDS3537.1	4q13	2011-12-12	2011-12-12	2011-12-12	ENSG00000181617	ENSG00000181617			19215	protein-coding gene	gene with protein product		607241	"""chromosome 4 open reading frame 7"""	C4orf7		12193705, 17548624, 20811673	Standard	NM_152997		Approved	FDC-SP	uc003hfd.3	Q8NFU4	OTTHUMG00000129393	ENST00000317987.5:c.21G>A	4.37:g.71096932G>A							p.L7L	NM_152997	NP_694542	Q8NFU4	FDSCP_HUMAN			2	106	+			7						Silent	SNP	ENST00000317987.5	37	c.21G>A	CCDS3537.1																																																																																				0.348	FDCSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251549.1	NM_152997		14	87	0	0	0	0	14	87				
NKX6-1	4825	broad.mit.edu	37	4	85414622	85414622	+	Silent	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr4:85414622C>G	ENST00000295886.4	-	3	1145	c.924G>C	c.(922-924)tcG>tcC	p.S308S	NKX6-1_ENST00000515820.2_Silent_p.S34S	NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN	NK6 homeobox 1	308	Involved in DNA-binding. {ECO:0000250}.				cell proliferation (GO:0008283)|cellular response to cytokine stimulus (GO:0071345)|cellular response to peptide hormone stimulus (GO:0071375)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|negative regulation of glial cell differentiation (GO:0045686)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|organ morphogenesis (GO:0009887)|pancreas development (GO:0031016)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of insulin secretion (GO:0032024)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of axon extension (GO:0030516)|regulation of neuron migration (GO:2001222)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to drug (GO:0042493)|response to nicotine (GO:0035094)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		GCTCTGTCTCCGAGTCCTGCT	0.597																																						uc003hpa.1		NA																	0					0						c.(922-924)TCG>TCC		NK6 transcription factor related, locus 1							117.0	114.0	115.0					4																	85414622		2203	4300	6503	SO:0001819	synonymous_variant	4825				detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus		g.chr4:85414622C>G	AH007313	CCDS3607.1	4q21.33	2012-03-09	2007-07-09	2002-10-04	ENSG00000163623	ENSG00000163623		"""Homeoboxes / ANTP class : NKL subclass"""	7839	protein-coding gene	gene with protein product		602563	"""NK homeobox (Drosophila), family 6, A"", ""NK6 transcription factor related, locus 1 (Drosophila)"""	NKX6A		9119408	Standard	NM_006168		Approved	Nkx6.1	uc003hpa.1	P78426	OTTHUMG00000130426	ENST00000295886.4:c.924G>C	4.37:g.85414622C>G							p.S308S	NM_006168	NP_006159	P78426	NKX61_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0013)	3	930	-		Hepatocellular(203;0.114)	308			Involved in DNA-binding (By similarity).			Silent	SNP	ENST00000295886.4	37	c.924G>C	CCDS3607.1																																																																																				0.597	NKX6-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252814.2	NM_006168		40	67	0	0	0	0	40	67				
ALPK1	80216	broad.mit.edu	37	4	113356374	113356374	+	Silent	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr4:113356374G>T	ENST00000458497.1	+	12	3384	c.3105G>T	c.(3103-3105)ggG>ggT	p.G1035G	ALPK1_ENST00000177648.9_Silent_p.G1035G|ALPK1_ENST00000504176.2_Silent_p.G957G	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1035	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TCTATTTGGGGGACTACTTGA	0.348																																						uc003iap.3		NA																	0				ovary(5)	5						c.(3103-3105)GGG>GGT		alpha-kinase 1							142.0	168.0	159.0					4																	113356374		2203	4300	6503	SO:0001819	synonymous_variant	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113356374G>T	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.3105G>T	4.37:g.113356374G>T						ALPK1_uc003ian.3_Silent_p.G1035G|ALPK1_uc011cfx.1_Silent_p.G957G|ALPK1_uc003iao.3_RNA|ALPK1_uc010imo.2_Silent_p.G863G	p.G1035G	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	12	3384	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	1035			Alpha-type protein kinase.		B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Silent	SNP	ENST00000458497.1	37	c.3105G>T	CCDS3697.1																																																																																				0.348	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		42	127	1	0	6.34e-27	9.52e-27	42	127				
ANK2	287	broad.mit.edu	37	4	114163318	114163318	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr4:114163318G>C	ENST00000357077.4	+	9	897	c.844G>C	c.(844-846)Gtg>Ctg	p.V282L	ANK2_ENST00000264366.6_Missense_Mutation_p.V282L|ANK2_ENST00000394537.3_Missense_Mutation_p.V282L|ANK2_ENST00000506722.1_Missense_Mutation_p.V261L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	282					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TACAAACATGGTGAAGCTCTT	0.438																																						uc003ibe.3		NA																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(844-846)GTG>CTG		ankyrin 2 isoform 1							188.0	172.0	177.0					4																	114163318		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114163318G>C	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.844G>C	4.37:g.114163318G>C	ENSP00000349588:p.Val282Leu					ANK2_uc003ibd.3_Missense_Mutation_p.V261L|ANK2_uc003ibf.3_Missense_Mutation_p.V282L|ANK2_uc003ibc.2_Missense_Mutation_p.V258L|ANK2_uc011cgb.1_Missense_Mutation_p.V297L	p.V282L	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	9	944	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	282			ANK 8.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.844G>C	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	32	5.139087	0.94560	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.70282	-0.45;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47	5.48	5.48	0.80851	Ankyrin repeat-containing domain (3);	0.000000	0.47093	D	0.000252	T	0.81833	0.4906	L	0.53729	1.69	0.80722	D	1	P;P;P;P;P	0.51933	0.949;0.877;0.937;0.725;0.821	P;P;P;B;D	0.65443	0.835;0.481;0.745;0.364;0.935	T	0.82530	-0.0411	10	0.87932	D	0	.	19.7157	0.96119	0.0:0.0:1.0:0.0	.	282;282;282;261;261	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	L	261;261;261;297;282;282;282;261	ENSP00000423799:V261L;ENSP00000421011:V261L;ENSP00000421067:V261L;ENSP00000424722:V297L;ENSP00000378044:V282L;ENSP00000349588:V282L;ENSP00000264366:V282L	ENSP00000264366:V282L	V	+	1	0	ANK2	114382767	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.813000	0.99286	2.749000	0.94314	0.655000	0.94253	GTG		0.438	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		13	32	0	0	0	0	13	32				
DCHS2	54798	broad.mit.edu	37	4	155249332	155249332	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr4:155249332G>A	ENST00000357232.4	-	12	2565	c.2566C>T	c.(2566-2568)Caa>Taa	p.Q856*	DCHS2_ENST00000339452.1_Nonsense_Mutation_p.Q1311*	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	856	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTTACTGGTTGACCTTCCAGA	0.333																																						uc003inw.2		NA																	0				ovary(3)|pancreas(1)	4						c.(2566-2568)CAA>TAA		dachsous 2 isoform 1							77.0	79.0	78.0					4																	155249332		2203	4299	6502	SO:0001587	stop_gained	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155249332G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.2566C>T	4.37:g.155249332G>A	ENSP00000349768:p.Gln856*					DCHS2_uc003inx.2_Nonsense_Mutation_p.Q1311*	p.Q856*	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	12	2566	-	all_hematologic(180;0.208)	Renal(120;0.0854)	856			Cadherin 7.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Nonsense_Mutation	SNP	ENST00000357232.4	37	c.2566C>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	45	11.391286	0.99555	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	.	.	.	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000011	.	.	.	.	.	.	0.32305	N	0.564475	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.773	0.96379	0.0:0.0:1.0:0.0	.	.	.	.	X	856;1311;1311	.	ENSP00000345062:Q1311X	Q	-	1	0	DCHS2	155468782	1.000000	0.71417	0.985000	0.45067	0.998000	0.95712	4.502000	0.60400	2.677000	0.91161	0.655000	0.94253	CAA		0.333	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		20	37	0	0	0	0	20	37				
TLL1	7092	broad.mit.edu	37	4	166916211	166916211	+	Splice_Site	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr4:166916211A>G	ENST00000061240.2	+	5	1161		c.e5-1		TLL1_ENST00000513213.1_Splice_Site|TLL1_ENST00000507499.1_Splice_Site	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1						cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CATTTTTTCTAGGCAGCCAGA	0.458																																						uc003irh.1		NA																	0				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.e5-2		tolloid-like 1 precursor							113.0	115.0	114.0					4																	166916211		2203	4300	6503	SO:0001630	splice_region_variant	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166916211A>G	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.515-1A>G	4.37:g.166916211A>G						TLL1_uc011cjn.1_Splice_Site_p.G172_splice|TLL1_uc011cjo.1_Splice_Site	p.G172_splice	NM_012464	NP_036596	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	5	1162	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)						B2RMU2|Q96AN3|Q9NQS4	Splice_Site	SNP	ENST00000061240.2	37	c.515_splice	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	A	18.44	3.625117	0.66901	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213;ENST00000506144	.	.	.	6.01	6.01	0.97437	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5285	0.84344	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TLL1	167135661	1.000000	0.71417	1.000000	0.80357	0.551000	0.35334	9.287000	0.95975	2.307000	0.77673	0.528000	0.53228	.		0.458	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1		Intron	26	63	0	0	0	0	26	63				
CDH10	1008	broad.mit.edu	37	5	24511436	24511436	+	Splice_Site	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:24511436C>A	ENST00000264463.4	-	6	1509	c.1002G>T	c.(1000-1002)aaG>aaT	p.K334N		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	334	Cadherin 3. {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)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGCTGTGCACCTTTTTCACAG	0.403										HNSCC(23;0.051)																												uc003jgr.1		NA																	0				ovary(6)|pancreas(4)|breast(2)	12						c.(1000-1002)AAG>AAT		cadherin 10, type 2 preproprotein							218.0	174.0	189.0					5																	24511436		2203	4300	6503	SO:0001630	splice_region_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24511436C>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1002+1G>T	5.37:g.24511436C>A		HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.K334N	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	6	1334	-			334			Cadherin 3.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.1002G>T	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318409	0.81469	.	.	ENSG00000040731	ENST00000264463	T	0.57107	0.42	5.22	5.22	0.72569	Cadherin (5);Cadherin-like (1);	0.099291	0.64402	D	0.000002	T	0.67692	0.2920	M	0.70787	2.145	0.47819	D	0.999521	P	0.52463	0.953	P	0.58721	0.844	T	0.68284	-0.5449	9	.	.	.	.	15.9189	0.79544	0.0:1.0:0.0:0.0	.	334	Q9Y6N8	CAD10_HUMAN	N	334	ENSP00000264463:K334N	.	K	-	3	2	CDH10	24547193	1.000000	0.71417	1.000000	0.80357	0.599000	0.36880	7.487000	0.81328	2.410000	0.81850	0.650000	0.86243	AAG		0.403	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727	Missense_Mutation	21	78	1	0	5.26e-13	7.43e-13	21	78				
LIFR	3977	broad.mit.edu	37	5	38486030	38486030	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:38486030C>T	ENST00000263409.4	-	17	2550	c.2388G>A	c.(2386-2388)ctG>ctA	p.L796L	LIFR_ENST00000453190.2_Silent_p.L796L	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	796	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CAGCAATTCTCAGTGTCTTCT	0.398			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	uc010ive.1		NA		Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				ovary(3)|large_intestine(1)	4						c.(2386-2388)CTG>CTA		leukemia inhibitory factor receptor precursor							120.0	111.0	114.0					5																	38486030		2203	4300	6503	SO:0001819	synonymous_variant	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38486030C>T	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.2388G>A	5.37:g.38486030C>T						LIFR_uc003jli.2_Silent_p.L796L	p.L796L	NM_001127671	NP_001121143	P42702	LIFR_HUMAN			17	2720	-	all_lung(31;0.00021)		796			Fibronectin type-III 6.|Extracellular (Potential).		Q6LCD9	Silent	SNP	ENST00000263409.4	37	c.2388G>A	CCDS3927.1																																																																																				0.398	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		9	44	0	0	0	0	9	44				
MROH2B	133558	broad.mit.edu	37	5	41061778	41061778	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:41061778C>A	ENST00000399564.4	-	6	959	c.509G>T	c.(508-510)aGa>aTa	p.R170I		NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	170																	GGGAAAATCTCTCCAGTGGTT	0.458																																						uc003jmj.3		NA																	0				ovary(6)|central_nervous_system(2)	8						c.(508-510)AGA>ATA		HEAT repeat family member 7B2							129.0	123.0	125.0					5																	41061778		1871	4109	5980	SO:0001583	missense	133558						binding	g.chr5:41061778C>A		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.509G>T	5.37:g.41061778C>A	ENSP00000382476:p.Arg170Ile						p.R170I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			6	999	-			170					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.509G>T	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343333	0.61073	.	.	ENSG00000171495	ENST00000399564	T	0.07567	3.18	5.81	-2.03	0.07365	Armadillo-type fold (1);	0.588832	0.16988	N	0.191429	T	0.08268	0.0206	L	0.40543	1.245	0.36985	D	0.894478	P	0.49559	0.925	P	0.44990	0.466	T	0.26430	-1.0103	10	0.51188	T	0.08	.	10.4735	0.44650	0.0:0.2501:0.0:0.7499	.	170	Q7Z745	HTRB2_HUMAN	I	170	ENSP00000382476:R170I	ENSP00000382476:R170I	R	-	2	0	HEATR7B2	41097535	0.910000	0.30920	0.987000	0.45799	0.996000	0.88848	-0.385000	0.07379	-0.256000	0.09473	0.655000	0.94253	AGA		0.458	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		22	79	1	0	4.35e-09	5.86e-09	22	79				
MCTP1	79772	broad.mit.edu	37	5	94259701	94259701	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:94259701C>T	ENST00000515393.1	-	7	1237	c.1238G>A	c.(1237-1239)gGa>gAa	p.G413E	MCTP1_ENST00000505078.1_Intron|MCTP1_ENST00000312216.8_Missense_Mutation_p.G192E|MCTP1_ENST00000429576.2_Intron|MCTP1_ENST00000505208.1_Missense_Mutation_p.G192E	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	413					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GAAATAAGATCCAACCACTTC	0.269																																						uc003kkx.2		NA																	0				ovary(2)	2						c.(1237-1239)GGA>GAA		multiple C2 domains, transmembrane 1 isoform L							64.0	64.0	64.0					5																	94259701		2203	4297	6500	SO:0001583	missense	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94259701C>T		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.1238G>A	5.37:g.94259701C>T	ENSP00000424126:p.Gly413Glu					MCTP1_uc003kkv.2_Missense_Mutation_p.G192E|MCTP1_uc003kkw.2_Intron|MCTP1_uc003kkz.2_Missense_Mutation_p.G74E|MCTP1_uc003kku.2_Intron	p.G413E	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	7	1238	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	413					Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Missense_Mutation	SNP	ENST00000515393.1	37	c.1238G>A	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.161863	0.38217	.	.	ENSG00000175471	ENST00000515393;ENST00000312216;ENST00000512425;ENST00000505208;ENST00000506568	T;T;T;T;T	0.79033	-1.23;-1.11;-0.94;-1.16;-0.79	4.77	4.77	0.60923	.	0.224065	0.32386	N	0.006177	T	0.75989	0.3925	N	0.22421	0.69	0.29171	N	0.877131	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.64984	-0.6278	10	0.02654	T	1	-10.8802	13.1306	0.59380	0.0:1.0:0.0:0.0	.	413;192	Q6DN14;Q6DN14-2	MCTP1_HUMAN;.	E	413;192;74;192;40	ENSP00000424126:G413E;ENSP00000308957:G192E;ENSP00000431075:G74E;ENSP00000426438:G192E;ENSP00000426294:G40E	ENSP00000308957:G192E	G	-	2	0	MCTP1	94285457	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.081000	0.41596	2.475000	0.83589	0.591000	0.81541	GGA		0.269	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717		3	25	0	0	0	0	3	25				
ADAMTS19	171019	broad.mit.edu	37	5	128958005	128958005	+	Silent	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:128958005T>C	ENST00000274487.4	+	10	1861	c.1716T>C	c.(1714-1716)ctT>ctC	p.L572L	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	572	Disintegrin.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GCCAGATCCTTTTTGGGCCAT	0.448																																						uc003kvb.1		NA																	0				ovary(5)|breast(2)|lung(1)|skin(1)	9						c.(1714-1716)CTT>CTC		ADAM metallopeptidase with thrombospondin type 1							149.0	127.0	134.0					5																	128958005		2203	4300	6503	SO:0001819	synonymous_variant	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128958005T>C	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1716T>C	5.37:g.128958005T>C						ADAMTS19_uc010jdh.1_RNA	p.L572L	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	10	1716	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	572			Disintegrin.			Silent	SNP	ENST00000274487.4	37	c.1716T>C	CCDS4146.1																																																																																				0.448	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		7	25	0	0	0	0	7	25				
ADAMTS19	171019	broad.mit.edu	37	5	129070697	129070697	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:129070697G>T	ENST00000274487.4	+	22	3512	c.3367G>T	c.(3367-3369)Gga>Tga	p.G1123*	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1123	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AGGAAGACATGGAAATGAATG	0.408																																						uc003kvb.1		NA																	0				ovary(5)|breast(2)|lung(1)|skin(1)	9						c.(3367-3369)GGA>TGA		ADAM metallopeptidase with thrombospondin type 1							117.0	117.0	117.0					5																	129070697		2203	4300	6503	SO:0001587	stop_gained	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:129070697G>T	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3367G>T	5.37:g.129070697G>T	ENSP00000274487:p.Gly1123*					ADAMTS19_uc010jdh.1_RNA	p.G1123*	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	22	3367	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	1123			TSP type-1 5.			Nonsense_Mutation	SNP	ENST00000274487.4	37	c.3367G>T	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	41	8.619656	0.98888	.	.	ENSG00000145808	ENST00000274487	.	.	.	4.26	4.26	0.50523	.	0.000000	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9861	0.89156	0.0:0.0:1.0:0.0	.	.	.	.	X	1123	.	.	G	+	1	0	ADAMTS19	129098596	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.915000	0.92740	2.661000	0.90470	0.585000	0.79938	GGA		0.408	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		23	46	1	0	1.55e-16	2.26e-16	23	46				
PCDHA13	56136	broad.mit.edu	37	5	140262292	140262292	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:140262292C>A	ENST00000289272.2	+	1	439	c.439C>A	c.(439-441)Cct>Act	p.P147T	PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.P147T|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	147	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAATCTAGACCTCCGGAAAC	0.463																																					Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(439-441)CCT>ACT		protocadherin alpha 13 isoform 1 precursor							94.0	95.0	94.0					5																	140262292		2203	4300	6503	SO:0001583	missense	56136				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140262292C>A	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.439C>A	5.37:g.140262292C>A	ENSP00000289272:p.Pro147Thr					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.P147T|PCDHA13_uc003lid.2_Missense_Mutation_p.P147T	p.P147T	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	439	+			147			Extracellular (Potential).|Cadherin 2.		O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.439C>A	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	C	5.339	0.247917	0.10130	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.54675	0.56;0.56	5.49	3.62	0.41486	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.42630	0.1211	L	0.45422	1.42	0.09310	N	1	B;B;B	0.18863	0.007;0.031;0.025	B;B;B	0.27500	0.08;0.051;0.027	T	0.18555	-1.0333	9	0.19147	T	0.46	.	7.928	0.29887	0.1435:0.7272:0.0:0.1293	.	147;147;147	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	T	147	ENSP00000386821:P147T;ENSP00000289272:P147T	ENSP00000289272:P147T	P	+	1	0	PCDHA13	140242476	0.000000	0.05858	0.200000	0.23457	0.905000	0.53344	-1.106000	0.03319	2.573000	0.86826	0.491000	0.48974	CCT		0.463	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		25	74	1	0	2.22e-12	3.1e-12	25	74				
PCDHAC2	56134	broad.mit.edu	37	5	140346697	140346697	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:140346697C>G	ENST00000289269.5	+	1	878	c.346C>G	c.(346-348)Cgc>Ggc	p.R116G	PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	116	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCGGCCTCGCTGCCTGCT	0.637																																					Melanoma(190;638 2083 3390 11909 52360)	uc003lii.2		NA																	0				ovary(2)|skin(2)	4						c.(346-348)CGC>GGC		protocadherin alpha subfamily C, 2 isoform 1							35.0	36.0	36.0					5																	140346697		2203	4300	6503	SO:0001583	missense	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140346697C>G	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.346C>G	5.37:g.140346697C>G	ENSP00000289269:p.Arg116Gly					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.R116G	p.R116G	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	586	+			116			Cadherin 1.|Extracellular (Potential).		Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	ENST00000289269.5	37	c.346C>G	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.313447	0.40996	.	.	ENSG00000243232	ENST00000289269	T	0.27890	1.64	5.43	5.43	0.79202	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.42821	D	0.000656	T	0.26919	0.0659	L	0.43923	1.385	0.37530	D	0.917866	B;B	0.32693	0.258;0.38	B;B	0.31614	0.033;0.133	T	0.12400	-1.0549	10	0.23891	T	0.37	.	14.7428	0.69469	0.0:1.0:0.0:0.0	.	116;116	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	G	116	ENSP00000289269:R116G	ENSP00000289269:R116G	R	+	1	0	PCDHAC2	140326881	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	-0.838000	0.04372	2.555000	0.86185	0.555000	0.69702	CGC		0.637	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		13	37	0	0	0	0	13	37				
PCDHGA1	56114	broad.mit.edu	37	5	140712526	140712526	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:140712526C>A	ENST00000517417.1	+	1	2275	c.2275C>A	c.(2275-2277)Ctc>Atc	p.L759I	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.L759I	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	759					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGGTCTCCCTCACTGCGGA	0.592																																						uc003lji.1		NA																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(2275-2277)CTC>ATC		protocadherin gamma subfamily A, 1 isoform 1							90.0	97.0	95.0					5																	140712526		2203	4297	6500	SO:0001583	missense	56114				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140712526C>A	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2275C>A	5.37:g.140712526C>A	ENSP00000431083:p.Leu759Ile					PCDHGA1_uc011dan.1_Missense_Mutation_p.L759I	p.L759I	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2275	+			759			Cytoplasmic (Potential).		Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.2275C>A	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	.	18.69	3.678139	0.68042	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.55930	0.56;0.49	3.89	3.02	0.34903	.	0.161948	0.29053	N	0.013299	T	0.73353	0.3576	M	0.92738	3.34	0.20403	N	0.99991	D;D	0.71674	0.998;0.996	D;P	0.67725	0.953;0.899	T	0.64748	-0.6334	10	0.87932	D	0	.	7.458	0.27278	0.0:0.7398:0.1676:0.0926	.	759;759	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	I	759	ENSP00000431083:L759I;ENSP00000367345:L759I	ENSP00000367345:L759I	L	+	1	0	PCDHGA1	140692710	0.000000	0.05858	0.954000	0.39281	0.828000	0.46876	0.228000	0.17814	0.980000	0.38523	0.585000	0.79938	CTC		0.592	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		38	137	1	0	1.32e-16	1.92e-16	38	137				
PCDHGA2	56113	broad.mit.edu	37	5	140720341	140720341	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:140720341C>T	ENST00000394576.2	+	1	1803	c.1803C>T	c.(1801-1803)aaC>aaT	p.N601N	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	601	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCCAGAACGCCTGGCTGT	0.692																																						uc003ljk.1		NA																	0				skin(2)|ovary(1)	3						c.(1801-1803)AAC>AAT		protocadherin gamma subfamily A, 2 isoform 1							58.0	68.0	65.0					5																	140720341		2203	4299	6502	SO:0001819	synonymous_variant	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140720341C>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1803C>T	5.37:g.140720341C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Silent_p.N601N	p.N601N	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1988	+			601			Extracellular (Potential).|Cadherin 6.		Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	c.1803C>T	CCDS47289.1																																																																																				0.692	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		26	113	0	0	0	0	26	113				
TCERG1	10915	broad.mit.edu	37	5	145838779	145838779	+	Silent	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:145838779A>G	ENST00000296702.5	+	4	809	c.771A>G	c.(769-771)ggA>ggG	p.G257G	TCERG1_ENST00000394421.2_Silent_p.G257G	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	257	Ala/Gln-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCAGTTGGAGCTTCCACCC	0.587																																						uc003lob.2		NA																	0				ovary(1)|skin(1)	2						c.(769-771)GGA>GGG		transcription elongation regulator 1 isoform 1							129.0	125.0	126.0					5																	145838779		2203	4300	6503	SO:0001819	synonymous_variant	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145838779A>G	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.771A>G	5.37:g.145838779A>G						TCERG1_uc003loc.2_Silent_p.G257G|TCERG1_uc011dbt.1_Silent_p.G257G	p.G257G	NM_006706	NP_006697	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	811	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	257			Ala/Gln-rich.		Q2NKN2|Q59EA1	Silent	SNP	ENST00000296702.5	37	c.771A>G	CCDS4282.1																																																																																				0.587	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		3	115	0	0	0	0	3	115				
DUSP22	56940	broad.mit.edu	37	6	348139	348139	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:348139C>T	ENST00000344450.5	+	6	743	c.300C>T	c.(298-300)atC>atT	p.I100I	DUSP22_ENST00000603453.1_5'UTR|DUSP22_ENST00000604971.1_5'UTR|DUSP22_ENST00000605035.1_5'UTR|DUSP22_ENST00000605315.1_5'UTR|DUSP22_ENST00000419235.2_Silent_p.I100I|DUSP22_ENST00000605863.1_5'UTR	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	100	Tyrosine-protein phosphatase.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.I100M(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CACTGGTGATCGCATACATCA	0.607																																						uc003msx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(298-300)ATC>ATT		dual specificity phosphatase 22							186.0	172.0	177.0					6																	348139		2203	4300	6503	SO:0001819	synonymous_variant	56940				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:348139C>T	AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.300C>T	6.37:g.348139C>T						DUSP22_uc011dhn.1_Silent_p.I100I|DUSP22_uc003msy.1_Silent_p.I57I	p.I100I	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)	6	739	+	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)	100			Tyrosine-protein phosphatase.		B4DK56|Q59GW2|Q5VWR2|Q96AR1	Silent	SNP	ENST00000344450.5	37	c.300C>T	CCDS4468.1	.	.	.	.	.	.	.	.	.	.	C	6.803	0.517222	0.13005	.	.	ENSG00000112679	ENST00000419235	.	.	.	5.82	-10.0	0.00425	.	.	.	.	.	T	0.18299	0.0439	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41627	-0.9498	4	.	.	.	.	4.0109	0.09623	0.2255:0.0839:0.1496:0.541	.	.	.	.	C	38	.	.	R	+	1	0	DUSP22	293139	0.097000	0.21791	0.031000	0.17742	0.562000	0.35680	-0.847000	0.04331	-2.161000	0.00785	-0.982000	0.02568	CGC		0.607	DUSP22-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000039621.1	NM_020185		6	238	0	0	0	0	6	238				
HIST1H2BD	3017	broad.mit.edu	37	6	26158752	26158752	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:26158752G>T	ENST00000289316.2	+	1	379	c.355G>T	c.(355-357)Gtc>Ttc	p.V119F	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.V119F	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	119					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						CACCAAGGCCGTCACCAAGTA	0.552																																						uc003ngr.2		NA																	0				ovary(1)|pancreas(1)	2						c.(355-357)GTC>TTC		histone cluster 1, H2bd							69.0	75.0	73.0					6																	26158752		2203	4300	6503	SO:0001583	missense	3017				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26158752G>T	M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"""Histones / Replication-dependent"""	4747	protein-coding gene	gene with protein product		602799	"""H2B histone family, member B"", ""histone 1, H2bd"""	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	ENST00000289316.2:c.355G>T	6.37:g.26158752G>T	ENSP00000289316:p.Val119Phe					HIST1H2BD_uc003ngs.2_Missense_Mutation_p.V119F	p.V119F	NM_021063	NP_066407	P58876	H2B1D_HUMAN			1	404	+			119						Missense_Mutation	SNP	ENST00000289316.2	37	c.355G>T	CCDS4587.1	.	.	.	.	.	.	.	.	.	.	.	31	5.070869	0.93950	.	.	ENSG00000158373	ENST00000377777;ENST00000289316	T;T	0.44482	0.92;0.92	5.19	5.19	0.71726	Histone-fold (2);	0.000000	0.47852	D	0.000217	T	0.64746	0.2626	H	0.96547	3.84	0.45439	D	0.998413	P	0.43857	0.819	P	0.54174	0.744	T	0.74100	-0.3774	10	0.87932	D	0	.	13.984	0.64321	0.0765:0.0:0.9234:0.0	.	119	P58876	H2B1D_HUMAN	F	119	ENSP00000367008:V119F;ENSP00000289316:V119F	ENSP00000289316:V119F	V	+	1	0	HIST1H2BD	26266731	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.503000	0.60407	2.820000	0.97059	0.650000	0.86243	GTC		0.552	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040088.1	NM_021063		23	68	1	0	2.22e-12	3.1e-12	23	68				
OR2W1	26692	broad.mit.edu	37	6	29012922	29012922	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:29012922C>T	ENST00000377175.1	-	1	95	c.31G>A	c.(31-33)Ggt>Agt	p.G11S		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						AGAATAAAACCATGTAAAGAA	0.403																																						uc003nlw.2		NA																	0				ovary(2)|skin(1)	3						c.(31-33)GGT>AGT		olfactory receptor, family 2, subfamily W,							85.0	92.0	90.0					6																	29012922		1352	2623	3975	SO:0001583	missense	26692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29012922C>T	AL035402	CCDS4656.1	6p22.1	2012-08-09			ENSG00000204704	ENSG00000204704		"""GPCR / Class A : Olfactory receptors"""	8281	protein-coding gene	gene with protein product							Standard	NM_030903		Approved	hs6M1-15	uc003nlw.2	Q9Y3N9	OTTHUMG00000031048	ENST00000377175.1:c.31G>A	6.37:g.29012922C>T	ENSP00000366380:p.Gly11Ser						p.G11S	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN			1	31	-			11			Extracellular (Potential).		B0S7Y5|Q5JNZ1|Q6IEU0|Q96R17|Q9GZL0|Q9GZL1	Missense_Mutation	SNP	ENST00000377175.1	37	c.31G>A	CCDS4656.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.181461	0.38511	.	.	ENSG00000204704	ENST00000377175	T	0.02944	4.1	4.27	3.39	0.38822	.	0.264463	0.27008	N	0.021397	T	0.01489	0.0048	M	0.67569	2.06	0.09310	N	1	B	0.19817	0.039	B	0.18561	0.022	T	0.41893	-0.9483	10	0.36615	T	0.2	.	10.1048	0.42526	0.0:0.8976:0.0:0.1024	.	11	Q9Y3N9	OR2W1_HUMAN	S	11	ENSP00000366380:G11S	ENSP00000366380:G11S	G	-	1	0	OR2W1	29120901	0.030000	0.19436	0.001000	0.08648	0.102000	0.19082	3.528000	0.53524	0.896000	0.36366	0.585000	0.79938	GGT		0.403	OR2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076053.2			15	41	0	0	0	0	15	41				
PTCHD4	442213	broad.mit.edu	37	6	48036085	48036085	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:48036085A>T	ENST00000339488.4	-	1	340	c.307T>A	c.(307-309)Tcg>Acg	p.S103T	PTCHD4_ENST00000543600.1_Missense_Mutation_p.S86T	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	103						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										TGTAAGTCCGAATAGAGCTGG	0.627																																						uc011dwm.1		NA																	0				central_nervous_system(1)	1						c.(256-258)TCG>ACG		hypothetical protein LOC442213							80.0	87.0	85.0					6																	48036085		1918	4128	6046	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:48036085A>T		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.307T>A	6.37:g.48036085A>T	ENSP00000341914:p.Ser103Thr					C6orf138_uc011dwn.1_Intron|C6orf138_uc003ozf.2_Missense_Mutation_p.S103T	p.S86T	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN			1	341	-			103					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.256T>A	CCDS34473.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.69|13.69	2.311962|2.311962	0.40895|0.40895	.|.	.|.	ENSG00000244694|ENSG00000244694	ENST00000398738|ENST00000339488;ENST00000543600	.|D;T	.|0.92495	.|-3.05;0.6	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.88592|0.88592	0.6478|0.6478	M|M	0.71036|0.71036	2.16|2.16	0.58432|0.58432	D|D	0.999995|0.999995	.|P;B	.|0.44090	.|0.826;0.259	.|B;B	.|0.43990	.|0.438;0.112	D|D	0.87394|0.87394	0.2365|0.2365	5|10	.|0.21014	.|T	.|0.42	.|.	14.7441|14.7441	0.69477|0.69477	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|103;86	.|Q6ZW05;B0QZ29	.|CF138_HUMAN;.	Y|T	102|103;86	.|ENSP00000341914:S103T;ENSP00000439864:S86T	.|ENSP00000341914:S103T	F|S	-|-	2|1	0|0	C6orf138|C6orf138	48144044|48144044	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.848000|8.848000	0.92172|0.92172	1.875000|1.875000	0.54330|0.54330	0.460000|0.460000	0.39030|0.39030	TTC|TCG		0.627	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		22	87	0	0	0	0	22	87				
KHDRBS2	202559	broad.mit.edu	37	6	62604606	62604606	+	Silent	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:62604606C>A	ENST00000281156.4	-	6	1022	c.744G>T	c.(742-744)cgG>cgT	p.R248R		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	248	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TTGGTGCCCCCCGGGCTCGAG	0.552																																						uc003peg.2		NA																	0				skin(7)|ovary(3)|liver(1)	11						c.(742-744)CGG>CGT		KH domain-containing, RNA-binding, signal							61.0	62.0	62.0					6																	62604606		2203	4300	6503	SO:0001819	synonymous_variant	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62604606C>A	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.744G>T	6.37:g.62604606C>A							p.R248R	NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	6	991	-			248			Pro-rich.		A8K7M8|Q8N4I4|Q8TCZ4	Silent	SNP	ENST00000281156.4	37	c.744G>T	CCDS4963.1																																																																																				0.552	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		17	47	1	0	2e-07	2.56e-07	17	47				
KHDRBS2	202559	broad.mit.edu	37	6	62887094	62887094	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:62887094G>T	ENST00000281156.4	-	2	493	c.215C>A	c.(214-216)cCa>cAa	p.P72Q		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	72	KH. {ECO:0000255|PROSITE- ProRule:PRU00117}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TAGTACCTTTGGATACTGCTT	0.289																																						uc003peg.2		NA																	0				skin(7)|ovary(3)|liver(1)	11						c.(214-216)CCA>CAA		KH domain-containing, RNA-binding, signal							103.0	97.0	99.0					6																	62887094		2202	4298	6500	SO:0001583	missense	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62887094G>T	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.215C>A	6.37:g.62887094G>T	ENSP00000281156:p.Pro72Gln						p.P72Q	NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	2	462	-			72			KH.		A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	c.215C>A	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.368223	0.61513	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.16457	2.34	5.23	5.23	0.72850	K Homology (1);K Homology, type 1, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.51160	0.1658	H	0.96547	3.84	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69007	-0.5259	10	0.87932	D	0	-2.8519	17.7751	0.88504	0.0:0.0:1.0:0.0	.	72	Q5VWX1	KHDR2_HUMAN	Q	72	ENSP00000281156:P72Q	ENSP00000281156:P72Q	P	-	2	0	KHDRBS2	62945053	1.000000	0.71417	1.000000	0.80357	0.336000	0.28762	9.351000	0.97073	2.416000	0.81992	0.460000	0.39030	CCA		0.289	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		5	26	1	0	0.00116845	0.00131489	5	26				
BAI3	577	broad.mit.edu	37	6	69349246	69349246	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:69349246G>T	ENST00000370598.1	+	3	1500	c.679G>T	c.(679-681)Gag>Tag	p.E227*		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	227					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGAGCAGACAGAGGGCTGCCT	0.532																																						uc003pev.3		NA																	0				lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(679-681)GAG>TAG		brain-specific angiogenesis inhibitor 3							33.0	33.0	33.0					6																	69349246		2203	4299	6502	SO:0001587	stop_gained	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69349246G>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.679G>T	6.37:g.69349246G>T	ENSP00000359630:p.Glu227*					BAI3_uc010kak.2_Nonsense_Mutation_p.E227*	p.E227*	NM_001704	NP_001695	O60242	BAI3_HUMAN			3	1127	+		all_lung(197;0.212)	227			Extracellular (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Nonsense_Mutation	SNP	ENST00000370598.1	37	c.679G>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	47	13.382816	0.99738	.	.	ENSG00000135298	ENST00000370598	.	.	.	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	19.1668	0.93561	0.0:0.0:1.0:0.0	.	.	.	.	X	227	.	ENSP00000359630:E227X	E	+	1	0	BAI3	69405967	1.000000	0.71417	0.974000	0.42286	0.990000	0.78478	9.420000	0.97426	2.599000	0.87857	0.563000	0.77884	GAG		0.532	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			6	36	1	0	0.00116845	0.00131489	6	36				
BAI3	577	broad.mit.edu	37	6	69684742	69684742	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:69684742C>T	ENST00000370598.1	+	9	2434	c.1613C>T	c.(1612-1614)cCc>cTc	p.P538L		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	538					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AATCAATGTCCCCTGAATGCC	0.443																																						uc003pev.3		NA																	0				lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(1612-1614)CCC>CTC		brain-specific angiogenesis inhibitor 3							94.0	89.0	91.0					6																	69684742		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69684742C>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1613C>T	6.37:g.69684742C>T	ENSP00000359630:p.Pro538Leu					BAI3_uc010kak.2_Missense_Mutation_p.P538L	p.P538L	NM_001704	NP_001695	O60242	BAI3_HUMAN			9	2061	+		all_lung(197;0.212)	538			Extracellular (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.1613C>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.817241	0.90790	.	.	ENSG00000135298	ENST00000370598	T	0.41400	1.0	5.5	5.5	0.81552	GPCR, family 2, extracellular hormone receptor domain (3);	0.000000	0.85682	D	0.000000	T	0.56232	0.1971	L	0.52905	1.665	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.57625	-0.7779	10	0.87932	D	0	.	19.762	0.96323	0.0:1.0:0.0:0.0	.	538	O60242	BAI3_HUMAN	L	538	ENSP00000359630:P538L	ENSP00000359630:P538L	P	+	2	0	BAI3	69741463	1.000000	0.71417	0.972000	0.41901	0.897000	0.52465	7.427000	0.80284	2.741000	0.93983	0.650000	0.86243	CCC		0.443	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			13	33	0	0	0	0	13	33				
FRK	2444	broad.mit.edu	37	6	116288845	116288845	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:116288845G>A	ENST00000606080.1	-	4	1114	c.668C>T	c.(667-669)aCc>aTc	p.T223I	FRK_ENST00000538210.1_Missense_Mutation_p.T81I	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	223					cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	TTGGTCCACGGTTTTATACGA	0.388																																						uc003pwi.1		NA																	0				ovary(3)|lung(3)	6						c.(667-669)ACC>ATC		fyn-related kinase							97.0	90.0	92.0					6																	116288845		2203	4300	6503	SO:0001583	missense	2444				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr6:116288845G>A	U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"""SH2 domain containing"""	3955	protein-coding gene	gene with protein product		606573	"""PTK5 protein tyrosine kinase 5"", ""fyn-related kinase"""	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.668C>T	6.37:g.116288845G>A	ENSP00000476145:p.Thr223Ile						p.T223I	NM_002031	NP_002022	P42685	FRK_HUMAN		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	4	1115	-		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)	223					B4DY49|Q13128|Q9NTR5	Missense_Mutation	SNP	ENST00000606080.1	37	c.668C>T	CCDS5103.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658059	0.67586	.	.	ENSG00000111816	ENST00000368626;ENST00000538210	T;T	0.35048	1.33;1.33	5.37	5.37	0.77165	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000002	T	0.55529	0.1926	M	0.71871	2.18	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.56673	-0.7940	10	0.59425	D	0.04	.	19.4481	0.94855	0.0:0.0:1.0:0.0	.	223	P42685	FRK_HUMAN	I	223;81	ENSP00000357615:T223I;ENSP00000443075:T81I	ENSP00000357615:T223I	T	-	2	0	FRK	116395538	1.000000	0.71417	0.904000	0.35570	0.366000	0.29705	9.563000	0.98148	2.666000	0.90696	0.585000	0.79938	ACC		0.388	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031		13	53	0	0	0	0	13	53				
LAMA2	3908	broad.mit.edu	37	6	129762020	129762020	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:129762020A>G	ENST00000421865.2	+	43	6194	c.6145A>G	c.(6145-6147)Aaa>Gaa	p.K2049E		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2049	Domain II and I.				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)		CGACACAGCTAAAGATGTACT	0.453																																						uc003qbn.2		NA																	0				ovary(8)|breast(1)|skin(1)	10						c.(6145-6147)AAA>GAA		laminin alpha 2 subunit isoform a precursor							120.0	107.0	111.0					6																	129762020		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.chr6:129762020A>G	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.6145A>G	6.37:g.129762020A>G	ENSP00000400365:p.Lys2049Glu					LAMA2_uc003qbo.2_Missense_Mutation_p.K2049E	p.K2049E	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	43	6250	+			2049			Domain II and I.|Potential.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.6145A>G	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	A	7.478	0.648034	0.14516	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.46063	0.88	5.55	5.55	0.83447	Laminin II (1);	0.292795	0.39274	N	0.001419	T	0.18923	0.0454	L	0.36672	1.1	0.31701	N	0.640796	P;P	0.39424	0.673;0.673	B;B	0.43445	0.42;0.42	T	0.08006	-1.0743	10	0.06494	T	0.89	.	14.2553	0.66048	1.0:0.0:0.0:0.0	.	2049;2049	A6NF00;P24043	.;LAMA2_HUMAN	E	2049;2049;2049;68	ENSP00000400365:K2049E	ENSP00000346769:K2049E	K	+	1	0	LAMA2	129803713	0.999000	0.42202	0.647000	0.29507	0.932000	0.56968	4.384000	0.59607	2.110000	0.64415	0.482000	0.46254	AAA		0.453	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			7	47	0	0	0	0	7	47				
ENPP1	5167	broad.mit.edu	37	6	132206176	132206176	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:132206176G>C	ENST00000360971.2	+	23	2437	c.2417G>C	c.(2416-2418)cGt>cCt	p.R806P		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	806	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TATGATGGACGTTGTGATTCC	0.398																																					Colon(104;336 1535 5856 11019 33782)	uc011ecf.1		NA																	0				upper_aerodigestive_tract(2)|ovary(2)	4						c.(2416-2418)CGT>CCT		ectonucleotide pyrophosphatase/phosphodiesterase	Amifostine(DB01143)|Ribavirin(DB00811)						207.0	185.0	192.0					6																	132206176		2203	4300	6503	SO:0001583	missense	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132206176G>C	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.2417G>C	6.37:g.132206176G>C	ENSP00000354238:p.Arg806Pro						p.R806P	NM_006208	NP_006199	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	23	2437	+	Breast(56;0.0505)		806			Nuclease.|Extracellular (Potential).		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	ENST00000360971.2	37	c.2417G>C	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	G	11.21	1.572110	0.28092	.	.	ENSG00000197594	ENST00000360971	T	0.73152	-0.72	5.91	-7.56	0.01322	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.860282	0.10477	N	0.670106	T	0.58264	0.2110	M	0.73962	2.25	0.09310	N	1	P	0.46987	0.888	P	0.54238	0.746	T	0.59129	-0.7512	10	0.35671	T	0.21	-0.2527	7.0284	0.24952	0.4924:0.0:0.1694:0.3381	.	806	P22413	ENPP1_HUMAN	P	806	ENSP00000354238:R806P	ENSP00000354238:R806P	R	+	2	0	ENPP1	132247869	0.000000	0.05858	0.008000	0.14137	0.218000	0.24690	-0.159000	0.10056	-1.272000	0.02427	-1.317000	0.01298	CGT		0.398	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			8	38	0	0	0	0	8	38				
UTRN	7402	broad.mit.edu	37	6	145157526	145157526	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:145157526C>G	ENST00000367545.3	+	70	9914	c.9914C>G	c.(9913-9915)cCc>cGc	p.P3305R	UTRN_ENST00000367526.4_Missense_Mutation_p.P860R	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3305					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATTATATCTCCCCATCACACG	0.502																																						uc003qkt.2		NA																	0				ovary(4)|pancreas(1)	5						c.(9913-9915)CCC>CGC		utrophin							107.0	110.0	109.0					6																	145157526		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145157526C>G	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.9914C>G	6.37:g.145157526C>G	ENSP00000356515:p.Pro3305Arg						p.P3305R	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	70	10006	+		Ovarian(120;0.218)	3305					Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.9914C>G	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.894758	0.33442	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	T;T	0.65178	-0.14;3.25	5.91	5.91	0.95273	.	0.000000	0.52532	D	0.000070	T	0.34687	0.0906	N	0.22421	0.69	0.39417	D	0.966853	B	0.15719	0.014	B	0.17098	0.017	T	0.17592	-1.0364	10	0.39692	T	0.17	.	13.4885	0.61379	0.0:0.9289:0.0:0.0711	.	3305	P46939	UTRO_HUMAN	R	3305;860	ENSP00000356515:P3305R;ENSP00000356496:P860R	ENSP00000356496:P860R	P	+	2	0	UTRN	145199219	0.997000	0.39634	0.994000	0.49952	0.159000	0.22180	3.800000	0.55537	2.813000	0.96785	0.655000	0.94253	CCC		0.502	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			29	125	0	0	0	0	29	125				
SYNE1	23345	broad.mit.edu	37	6	152655143	152655143	+	Splice_Site	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:152655143C>G	ENST00000367255.5	-	77	13395	c.12794G>C	c.(12793-12795)aGa>aCa	p.R4265T	SYNE1_ENST00000423061.1_Splice_Site_p.R4194T|SYNE1_ENST00000448038.1_Splice_Site_p.R4194T|SYNE1_ENST00000341594.5_Splice_Site_p.R4130T|SYNE1_ENST00000265368.4_Splice_Site_p.R4265T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4265					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTCTGTTACCTGGCCAAGTT	0.393										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(12793-12795)AGA>ACA		spectrin repeat containing, nuclear envelope 1							114.0	119.0	117.0					6																	152655143		2203	4300	6503	SO:0001630	splice_region_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152655143C>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.12794+1G>C	6.37:g.152655143C>G		HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.R4194T|SYNE1_uc003qou.3_Missense_Mutation_p.R4265T|SYNE1_uc010kiz.2_Missense_Mutation_p.R20T	p.R4265T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	77	13396	-		Ovarian(120;0.0955)	4265			Cytoplasmic (Potential).|Spectrin 12.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.12794G>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921231	0.73213	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000003	T	0.55081	0.1898	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.999	T	0.50642	-0.8804	9	.	.	.	.	19.8677	0.96824	0.0:1.0:0.0:0.0	.	4265;4265;4265;4194	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	T	4265;4194;4265;4194;4130	ENSP00000356224:R4265T;ENSP00000396024:R4194T;ENSP00000265368:R4265T;ENSP00000390975:R4194T;ENSP00000341887:R4130T	.	R	-	2	0	SYNE1	152696836	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.818000	0.86416	2.709000	0.92574	0.655000	0.94253	AGA		0.393	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	Missense_Mutation	16	82	0	0	0	0	16	82				
SYNE1	23345	broad.mit.edu	37	6	152674536	152674536	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:152674536C>T	ENST00000367255.5	-	69	11716	c.11115G>A	c.(11113-11115)caG>caA	p.Q3705Q	SYNE1_ENST00000423061.1_Silent_p.Q3690Q|SYNE1_ENST00000448038.1_Silent_p.Q3690Q|SYNE1_ENST00000341594.5_Silent_p.Q3676Q|SYNE1_ENST00000265368.4_Silent_p.Q3705Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3705					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTCCAAACTCTGAATCTCCT	0.388										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(11113-11115)CAG>CAA		spectrin repeat containing, nuclear envelope 1							87.0	90.0	89.0					6																	152674536		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152674536C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.11115G>A	6.37:g.152674536C>T		HNSCC(10;0.0054)				SYNE1_uc003qot.3_Silent_p.Q3690Q|SYNE1_uc003qou.3_Silent_p.Q3705Q|SYNE1_uc010kja.1_Silent_p.Q410Q	p.Q3705Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	69	11717	-		Ovarian(120;0.0955)	3705			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.11115G>A	CCDS5236.2																																																																																				0.388	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		9	44	0	0	0	0	9	44				
UNC93A	54346	broad.mit.edu	37	6	167708043	167708043	+	Silent	SNP	G	G	T	rs202134214	byFrequency	TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr6:167708043G>T	ENST00000230256.3	+	2	301	c.126G>T	c.(124-126)gcG>gcT	p.A42A	UNC93A_ENST00000366830.2_3'UTR|UNC93A_ENST00000366829.2_Silent_p.A42A	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	42						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GTGTCACAGCGCTCAGCACCC	0.617																																						uc003qvq.2		NA																	0					0						c.(124-126)GCG>GCT		unc-93 homolog A isoform 1							199.0	161.0	174.0					6																	167708043		2203	4300	6503	SO:0001819	synonymous_variant	54346					integral to membrane|plasma membrane		g.chr6:167708043G>T	AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"""unc93 (C.elegans) homolog A"""			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.126G>T	6.37:g.167708043G>T						UNC93A_uc003qvr.2_Silent_p.A42A	p.A42A	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	2	301	+		Breast(66;7.62e-05)|Ovarian(120;0.105)	42			Helical; (Potential).		B3KRP5|Q4QQJ4|Q5JZD6	Silent	SNP	ENST00000230256.3	37	c.126G>T	CCDS5300.1																																																																																				0.617	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974		102	114	1	0	3.71e-49	5.62e-49	102	114				
THSD7A	221981	broad.mit.edu	37	7	11514030	11514030	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:11514030C>A	ENST00000423059.4	-	8	2434	c.2183G>T	c.(2182-2184)tGc>tTc	p.C728F	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	728	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GCCGACAGAGCAGGAGGCCTC	0.507										HNSCC(18;0.044)																												uc003ssf.3		NA																	0				ovary(3)	3						c.(2182-2184)TGC>TTC		thrombospondin, type I, domain containing 7A							102.0	102.0	102.0					7																	11514030		2040	4198	6238	SO:0001583	missense	221981					integral to membrane		g.chr7:11514030C>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.2183G>T	7.37:g.11514030C>A	ENSP00000406482:p.Cys728Phe	HNSCC(18;0.044)					p.C728F	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	8	2435	-			728			TSP type-1 7.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000423059.4	37	c.2183G>T	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965945	0.74131	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.79653	-1.29	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.93996	0.8077	H	0.97783	4.075	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96137	0.9097	10	0.87932	D	0	.	18.9303	0.92563	0.0:1.0:0.0:0.0	.	728	Q9UPZ6	THS7A_HUMAN	F	728	ENSP00000406482:C728F	ENSP00000262042:C728F	C	-	2	0	THSD7A	11480555	1.000000	0.71417	0.998000	0.56505	0.655000	0.38815	7.776000	0.85560	2.550000	0.86006	0.563000	0.77884	TGC		0.507	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		13	57	1	0	7.04e-09	9.43e-09	13	57				
CDCA7L	55536	broad.mit.edu	37	7	21942677	21942677	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:21942677C>A	ENST00000406877.3	-	9	1532	c.1253G>T	c.(1252-1254)cGt>cTt	p.R418L	CDCA7L_ENST00000373934.4_Missense_Mutation_p.R372L|CDCA7L_ENST00000356195.5_Missense_Mutation_p.R384L|CDCA7L_ENST00000465490.1_5'Flank	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	418					positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						GCGGCCGTCACGCTTCCGACA	0.493																																						uc010kuk.2		NA																	0					0						c.(1252-1254)CGT>CTT		cell division cycle associated 7-like isoform 1							81.0	75.0	77.0					7																	21942677		2203	4300	6503	SO:0001583	missense	55536				positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus		g.chr7:21942677C>A		CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.1253G>T	7.37:g.21942677C>A	ENSP00000383986:p.Arg418Leu					CDCA7L_uc003sve.3_Missense_Mutation_p.R384L|CDCA7L_uc010kul.2_Missense_Mutation_p.R372L|CDCA7L_uc003svf.3_Missense_Mutation_p.R417L	p.R418L	NM_018719	NP_061189	Q96GN5	CDA7L_HUMAN			9	1373	-			418					A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Missense_Mutation	SNP	ENST00000406877.3	37	c.1253G>T	CCDS5374.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.071714	0.55646	.	.	ENSG00000164649	ENST00000356195;ENST00000406877;ENST00000373934;ENST00000435717	T;T;T	0.53206	0.65;0.63;0.63	5.75	5.75	0.90469	Zinc-finger domain of monoamine-oxidase A repressor R1 (1);	0.055023	0.64402	D	0.000001	T	0.66915	0.2838	L	0.60455	1.87	0.80722	D	1	D;D;D	0.67145	0.994;0.994;0.996	D;D;D	0.66716	0.914;0.946;0.94	T	0.66905	-0.5805	10	0.87932	D	0	8.3831	20.3312	0.98718	0.0:1.0:0.0:0.0	.	372;418;417	C9K0Y1;Q96GN5;Q96GN5-2	.;CDA7L_HUMAN;.	L	384;418;372;69	ENSP00000348523:R384L;ENSP00000383986:R418L;ENSP00000363045:R372L	ENSP00000348523:R384L	R	-	2	0	CDCA7L	21909202	0.998000	0.40836	0.998000	0.56505	0.996000	0.88848	3.805000	0.55575	2.894000	0.99253	0.655000	0.94253	CGT		0.493	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4	NM_018719		9	39	1	0	0.000442599	0.000507443	9	39				
NFE2L3	9603	broad.mit.edu	37	7	26217588	26217588	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:26217588A>G	ENST00000056233.3	+	2	855	c.596A>G	c.(595-597)cAc>cGc	p.H199R		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	199					transcription from RNA polymerase II promoter (GO:0006366)	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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						AGAGAAAAGCACGAAGCTGTG	0.393																																						uc003sxq.2		NA																	0				skin(3)|ovary(1)	4						c.(595-597)CAC>CGC		nuclear factor erythroid 2-like 3							93.0	93.0	93.0					7																	26217588		2203	4300	6503	SO:0001583	missense	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26217588A>G	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.596A>G	7.37:g.26217588A>G	ENSP00000056233:p.His199Arg						p.H199R	NM_004289	NP_004280	Q9Y4A8	NF2L3_HUMAN			2	868	+			199					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	ENST00000056233.3	37	c.596A>G	CCDS5396.1	.	.	.	.	.	.	.	.	.	.	A	4.656	0.122014	0.08931	.	.	ENSG00000050344	ENST00000056233	T	0.22336	1.96	3.88	-7.26	0.01466	.	2.847080	0.00763	N	0.001145	T	0.10937	0.0267	L	0.38175	1.15	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35549	-0.9784	10	0.02654	T	1	8.2756	2.6734	0.05074	0.5605:0.1247:0.1732:0.1417	.	199	Q9Y4A8	NF2L3_HUMAN	R	199	ENSP00000056233:H199R	ENSP00000056233:H199R	H	+	2	0	NFE2L3	26184113	0.000000	0.05858	0.000000	0.03702	0.102000	0.19082	-1.551000	0.02178	-1.487000	0.01849	-0.242000	0.12053	CAC		0.393	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			12	58	0	0	0	0	12	58				
HNRNPA2B1	3181	broad.mit.edu	37	7	26236079	26236079	+	Silent	SNP	T	T	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:26236079T>G	ENST00000354667.4	-	7	804	c.636A>C	c.(634-636)tcA>tcC	p.S212S	HNRNPA2B1_ENST00000356674.7_Silent_p.S200S	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	212	Gly-rich.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|RNA binding (GO:0003723)|single-stranded telomeric DNA binding (GO:0043047)		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						CGCCACCACGTGAATCCCCAA	0.408			T	ETV1	prostate																																	uc003sxr.3		NA		Dom	yes		7	7p15	3181	T	heterogeneous nuclear ribonucleoprotein A2/B1			E	ETV1		prostate		0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(634-636)TCA>TCC		heterogeneous nuclear ribonucleoprotein A2/B1							82.0	79.0	80.0					7																	26236079		2203	4300	6503	SO:0001819	synonymous_variant	3181				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding	g.chr7:26236079T>G	D28877	CCDS5397.1, CCDS43557.1	7p15	2013-02-12		2007-08-16	ENSG00000122566	ENSG00000122566		"""RNA binding motif (RRM) containing"""	5033	protein-coding gene	gene with protein product		600124		HNRPA2B1		8029005	Standard	NM_002137		Approved		uc003sxr.4	P22626	OTTHUMG00000023471	ENST00000354667.4:c.636A>C	7.37:g.26236079T>G						HNRNPA2B1_uc003sxs.3_Silent_p.S200S	p.S212S	NM_031243	NP_112533	P22626	ROA2_HUMAN			7	852	-			212			Gly-rich.		A8K064|P22627|Q9UC98|Q9UDJ2	Silent	SNP	ENST00000354667.4	37	c.636A>C	CCDS43557.1																																																																																				0.408	HNRNPA2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214109.1	NM_002137		18	66	0	0	0	0	18	66				
AMPH	273	broad.mit.edu	37	7	38530673	38530673	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:38530673G>T	ENST00000356264.2	-	5	588	c.373C>A	c.(373-375)Ctg>Atg	p.L125M	AMPH_ENST00000428293.2_Missense_Mutation_p.L125M|AMPH_ENST00000325590.5_Missense_Mutation_p.L125M	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	125	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						AATTGCCCCAGGTAGGTATCC	0.413																																						uc003tgu.2		NA																	0				ovary(3)|liver(1)|skin(1)	5						c.(373-375)CTG>ATG		amphiphysin isoform 1							167.0	166.0	166.0					7																	38530673		2203	4300	6503	SO:0001583	missense	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38530673G>T		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.373C>A	7.37:g.38530673G>T	ENSP00000348602:p.Leu125Met					AMPH_uc003tgv.2_Missense_Mutation_p.L125M	p.L125M	NM_001635	NP_001626	P49418	AMPH_HUMAN			5	442	-			125			BAR.		A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	c.373C>A	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939942	0.73557	.	.	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000544070	T;T;T	0.69806	-0.43;-0.43;-0.43	5.36	5.36	0.76844	BAR (3);	0.000000	0.64402	D	0.000001	T	0.80270	0.4592	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.80032	-0.1552	10	0.48119	T	0.1	-15.513	17.8497	0.88742	0.0:0.0:1.0:0.0	.	125;125	P49418-2;P49418	.;AMPH_HUMAN	M	125	ENSP00000317441:L125M;ENSP00000348602:L125M;ENSP00000390734:L125M	ENSP00000317441:L125M	L	-	1	2	AMPH	38497198	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	4.675000	0.61619	2.512000	0.84698	0.460000	0.39030	CTG		0.413	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		33	155	1	0	3.76e-14	5.36e-14	33	155				
POM121L12	285877	broad.mit.edu	37	7	53103954	53103954	+	Missense_Mutation	SNP	G	G	T	rs377144125		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:53103954G>T	ENST00000408890.4	+	1	606	c.590G>T	c.(589-591)tGg>tTg	p.W197L		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	197										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGGCCGTTGTGGTTCGAGGTC	0.672																																						uc003tpz.2		NA																	0					0						c.(589-591)TGG>TTG		POM121 membrane glycoprotein-like 12		G	LEU/TRP	1,3961		0,1,1980	50.0	58.0	55.0		590	2.2	0.4	7		55	0,8294		0,0,4147	no	missense	POM121L12	NM_182595.3	61	0,1,6127	TT,TG,GG		0.0,0.0252,0.0082	probably-damaging	197/297	53103954	1,12255	1981	4147	6128	SO:0001583	missense	285877							g.chr7:53103954G>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.590G>T	7.37:g.53103954G>T	ENSP00000386133:p.Trp197Leu						p.W197L	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	606	+			197					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.590G>T	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.079029	0.36662	2.52E-4	0.0	ENSG00000221900	ENST00000408890	T	0.09630	2.96	2.21	2.21	0.28008	.	.	.	.	.	T	0.13286	0.0322	N	0.14661	0.345	0.09310	N	0.999998	D	0.61080	0.989	D	0.64877	0.93	T	0.23868	-1.0176	9	0.34782	T	0.22	.	8.0049	0.30319	0.0:0.0:1.0:0.0	.	197	Q8N7R1	P1L12_HUMAN	L	197	ENSP00000386133:W197L	ENSP00000386133:W197L	W	+	2	0	POM121L12	53071448	0.225000	0.23685	0.354000	0.25760	0.008000	0.06430	1.118000	0.31246	1.561000	0.49584	0.561000	0.74099	TGG		0.672	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		15	71	1	0	0.000219431	0.000256404	15	71				
PCLO	27445	broad.mit.edu	37	7	82585852	82585852	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:82585852C>T	ENST00000333891.9	-	5	4754	c.4417G>A	c.(4417-4419)Gaa>Aaa	p.E1473K	PCLO_ENST00000423517.2_Missense_Mutation_p.E1473K	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						TTCCTTTCTTCTTGACTCTCT	0.363																																						uc003uhx.2		NA																	0				ovary(7)	7						c.(4417-4419)GAA>AAA		piccolo isoform 1							104.0	96.0	98.0					7																	82585852		1821	4082	5903	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82585852C>T	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.4417G>A	7.37:g.82585852C>T	ENSP00000334319:p.Glu1473Lys					PCLO_uc003uhv.2_Missense_Mutation_p.E1473K	p.E1473K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	4706	-			1404						Missense_Mutation	SNP	ENST00000333891.9	37	c.4417G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.592071	0.28357	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.19394	2.15;2.16	5.33	4.45	0.53987	.	.	.	.	.	T	0.17831	0.0428	L	0.37561	1.115	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.09377	0.004;0.004	T	0.03051	-1.1078	9	0.87932	D	0	.	10.6475	0.45628	0.0:0.7964:0.0:0.2036	.	1473;1473	Q9Y6V0-5;Q9Y6V0-6	.;.	K	1404;1473;1473	ENSP00000334319:E1473K;ENSP00000388393:E1473K	ENSP00000334319:E1473K	E	-	1	0	PCLO	82423788	0.990000	0.36364	0.770000	0.31555	0.784000	0.44337	2.779000	0.47734	1.264000	0.44198	0.650000	0.86243	GAA		0.363	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		9	47	0	0	0	0	9	47				
GRM3	2913	broad.mit.edu	37	7	86468529	86468529	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:86468529G>T	ENST00000361669.2	+	4	2798	c.1699G>T	c.(1699-1701)Gag>Tag	p.E567*	GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Nonsense_Mutation_p.E439*|GRM3_ENST00000546348.1_Nonsense_Mutation_p.E159*|GRM3_ENST00000439827.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	567					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					TGACCTTCCTGAGGACTACAT	0.498																																					GBM(52;969 1098 3139 52280)	uc003uid.2		NA																	0				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(1699-1701)GAG>TAG		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						112.0	105.0	107.0					7																	86468529		2203	4300	6503	SO:0001587	stop_gained	2913				synaptic transmission	integral to plasma membrane		g.chr7:86468529G>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.1699G>T	7.37:g.86468529G>T	ENSP00000355316:p.Glu567*					GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Nonsense_Mutation_p.E439*|GRM3_uc010leh.2_Nonsense_Mutation_p.E159*	p.E567*	NM_000840	NP_000831	Q14832	GRM3_HUMAN			4	2798	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		567			Extracellular (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Nonsense_Mutation	SNP	ENST00000361669.2	37	c.1699G>T	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	38	7.000331	0.97994	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.848	0.96722	0.0:0.0:1.0:0.0	.	.	.	.	X	567;159;439	.	ENSP00000355316:E567X	E	+	1	0	GRM3	86306465	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.990000	0.88215	2.937000	0.99478	0.650000	0.86243	GAG		0.498	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			15	91	1	0	7.93e-07	1e-06	15	91				
ABCB1	5243	broad.mit.edu	37	7	87135257	87135257	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:87135257G>C	ENST00000265724.3	-	28	4009	c.3592C>G	c.(3592-3594)Ctt>Gtt	p.L1198V	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.L1134V	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1198	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TCATCCAAAAGCAAAATATGA	0.418																																						uc003uiz.1		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(3592-3594)CTT>GTT		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						163.0	150.0	155.0					7																	87135257		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87135257G>C	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.3592C>G	7.37:g.87135257G>C	ENSP00000265724:p.Leu1198Val					ABCB1_uc011khc.1_Missense_Mutation_p.L1134V	p.L1198V	NM_000927	NP_000918	P08183	MDR1_HUMAN			28	4010	-	Esophageal squamous(14;0.00164)		1198			Cytoplasmic (Potential).|ABC transporter 2.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.3592C>G	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	32	5.134151	0.94517	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	T;T	0.77877	-1.13;-1.13	5.94	5.94	0.96194	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	T	0.80813	0.4695	N	0.21508	0.67	0.80722	D	1	D;D	0.61080	0.989;0.985	P;P	0.61658	0.874;0.892	T	0.82532	-0.0410	10	0.72032	D	0.01	-23.6958	19.3618	0.94442	0.0:0.0:1.0:0.0	.	1134;1198	B5AK60;P08183	.;MDR1_HUMAN	V	979;1198;1134	ENSP00000265724:L1198V;ENSP00000444095:L1134V	ENSP00000265724:L1198V	L	-	1	0	ABCB1	86973193	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.683000	0.68189	2.820000	0.97059	0.650000	0.86243	CTT		0.418	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		10	36	0	0	0	0	10	36				
C7orf62	219557	broad.mit.edu	37	7	88423800	88423800	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:88423800C>A	ENST00000297203.2	-	2	642	c.457G>T	c.(457-459)Gtt>Ttt	p.V153F	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	153										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						ATAACTGGAACTTTTATCACT	0.348																																						uc003ujv.2		NA																	0					0						c.(457-459)GTT>TTT		hypothetical protein LOC219557							112.0	103.0	106.0					7																	88423800		2203	4300	6503	SO:0001583	missense	219557							g.chr7:88423800C>A	BC028365	CCDS34678.1	7q21.13	2013-10-11			ENSG00000164645	ENSG00000164645			22402	protein-coding gene	gene with protein product						12690205	Standard	NM_152706		Approved	MGC26647	uc003ujv.3	Q8TBZ9	OTTHUMG00000153859	ENST00000297203.2:c.457G>T	7.37:g.88423800C>A	ENSP00000297203:p.Val153Phe					ZNF804B_uc011khi.1_Intron	p.V153F	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	STAD - Stomach adenocarcinoma(171;0.229)		2	639	-	Esophageal squamous(14;0.00802)|all_hematologic(106;0.109)|Lung NSC(181;0.168)|all_lung(186;0.169)		153						Missense_Mutation	SNP	ENST00000297203.2	37	c.457G>T	CCDS34678.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.306943	0.60305	.	.	ENSG00000164645	ENST00000297203	T	0.15834	2.39	6.06	4.26	0.50523	.	0.501568	0.19426	N	0.114567	T	0.31888	0.0811	M	0.62723	1.935	0.09310	N	1	D	0.56746	0.977	P	0.58873	0.847	T	0.07158	-1.0787	10	0.72032	D	0.01	-11.8111	9.5707	0.39427	0.0:0.8355:0.0:0.1645	.	153	Q8TBZ9	CG062_HUMAN	F	153	ENSP00000297203:V153F	ENSP00000297203:V153F	V	-	1	0	C7orf62	88261736	0.007000	0.16637	0.171000	0.22900	0.974000	0.67602	0.848000	0.27710	1.579000	0.49836	0.650000	0.86243	GTT		0.348	C7orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332714.1	NM_152706		12	58	1	0	6.4e-05	7.66e-05	12	58				
AKAP9	10142	broad.mit.edu	37	7	91671405	91671405	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:91671405G>T	ENST00000359028.2	+	20	5224	c.4999G>T	c.(4999-5001)Gtg>Ttg	p.V1667L	AKAP9_ENST00000356239.3_Missense_Mutation_p.V1655L|AKAP9_ENST00000358100.2_Missense_Mutation_p.V1667L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1667					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)			GAGAGAGAGGGTGCTTTTAGA	0.423			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.(4963-4965)GTG>TTG		A-kinase anchor protein 9 isoform 2							107.0	104.0	105.0					7																	91671405		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91671405G>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.4999G>T	7.37:g.91671405G>T	ENSP00000351922:p.Val1667Leu					AKAP9_uc003ulf.2_Missense_Mutation_p.V1655L|AKAP9_uc003uli.2_Missense_Mutation_p.V1280L	p.V1655L	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)		19	5188	+	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)		1667					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.4963G>T		.	.	.	.	.	.	.	.	.	.	G	10.72	1.428334	0.25726	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120	T;T;T	0.03413	3.94;3.98;3.98	5.4	4.5	0.54988	.	0.207467	0.24200	N	0.040632	T	0.05318	0.0141	M	0.67953	2.075	0.28830	N	0.897209	B;B;B	0.14805	0.007;0.011;0.011	B;B;B	0.14578	0.005;0.011;0.011	T	0.14420	-1.0473	10	0.49607	T	0.09	.	5.5597	0.17135	0.1204:0.0:0.6866:0.1931	.	1667;1655;1655	Q99996;Q99996-2;Q99996-3	AKAP9_HUMAN;.;.	L	1655;1667;1667;1667	ENSP00000348573:V1655L;ENSP00000351922:V1667L;ENSP00000350813:V1667L	ENSP00000348573:V1655L	V	+	1	0	AKAP9	91509341	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.146000	0.50631	1.379000	0.46325	0.655000	0.94253	GTG		0.423	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		9	37	1	0	2.74e-10	3.76e-10	9	37				
CASD1	64921	broad.mit.edu	37	7	94146967	94146967	+	Splice_Site	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:94146967A>T	ENST00000297273.4	+	2	516	c.229A>T	c.(229-231)Agt>Tgt	p.S77C		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	77						integral component of membrane (GO:0016021)				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ATACAAAATCAGGTAACATTT	0.378																																						uc003uni.3		NA																	0				ovary(2)	2						c.(229-231)AGT>TGT		CAS1 domain containing 1 precursor							156.0	148.0	151.0					7																	94146967		2203	4300	6503	SO:0001630	splice_region_variant	64921					integral to membrane		g.chr7:94146967A>T	AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 12"""	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.230+1A>T	7.37:g.94146967A>T						CASD1_uc003unh.2_Missense_Mutation_p.S77C|CASD1_uc003unj.3_Missense_Mutation_p.S77C	p.S77C	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		2	456	+	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		77					B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Missense_Mutation	SNP	ENST00000297273.4	37	c.229A>T	CCDS5636.1	.	.	.	.	.	.	.	.	.	.	A	19.98	3.927363	0.73327	.	.	ENSG00000127995	ENST00000447923;ENST00000297273	T;T	0.19105	2.17;2.17	5.28	2.87	0.33458	Cyclin-like (1);	0.264963	0.48286	D	0.000183	T	0.32285	0.0824	L	0.54323	1.7	0.51482	D	0.999924	D;P;D	0.63046	0.992;0.642;0.992	P;P;P	0.60345	0.873;0.552;0.819	T	0.02431	-1.1160	10	0.66056	D	0.02	.	7.1597	0.25657	0.7967:0.0:0.0724:0.1309	.	77;77;77	Q8WZ77;Q96PB1;B2RAS9	.;CASD1_HUMAN;.	C	8;77	ENSP00000396261:S8C;ENSP00000297273:S77C	ENSP00000297273:S77C	S	+	1	0	CASD1	93984903	1.000000	0.71417	0.994000	0.49952	0.982000	0.71751	6.706000	0.74649	0.400000	0.25396	0.528000	0.53228	AGT		0.378	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1	NM_022900	Missense_Mutation	5	44	0	0	0	0	5	44				
GIGYF1	64599	broad.mit.edu	37	7	100281723	100281723	+	Silent	SNP	C	C	G	rs199733363	byFrequency	TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:100281723C>G	ENST00000275732.5	-	15	2997	c.1788G>C	c.(1786-1788)ccG>ccC	p.P596P	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	596	Gln-rich.|Poly-Pro.				insulin-like growth factor receptor signaling pathway (GO:0048009)			p.P315P(1)|p.P596P(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GCGGTGGTGGCGGTGTCAGGT	0.687																																						uc003uwg.1		NA																	2	Substitution - coding silent(2)		endometrium(2)	large_intestine(1)|central_nervous_system(1)	2						c.(1786-1788)CCG>CCC		PERQ amino acid rich, with GYF domain 1							17.0	22.0	20.0					7																	100281723		2199	4296	6495	SO:0001819	synonymous_variant	64599							g.chr7:100281723C>G	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.1788G>C	7.37:g.100281723C>G							p.P596P	NM_022574	NP_072096	O75420	PERQ1_HUMAN			15	2797	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		596			Poly-Pro.|Gln-rich.		Q6Y7W7|Q8WZ38	Silent	SNP	ENST00000275732.5	37	c.1788G>C	CCDS34708.1																																																																																				0.687	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		11	41	0	0	0	0	11	41				
PMPCB	9512	broad.mit.edu	37	7	102952105	102952105	+	Silent	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:102952105A>T	ENST00000249269.4	+	10	1208	c.1170A>T	c.(1168-1170)acA>acT	p.T390T	PMPCB_ENST00000420236.2_Silent_p.T285T|PMPCB_ENST00000428154.1_Silent_p.T390T	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	390					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GACTCTGTACAAGTGTCACAG	0.363																																						uc003vbl.2		NA																	0				ovary(4)	4						c.(1168-1170)ACA>ACT		mitochondrial processing peptidase beta subunit							93.0	89.0	91.0					7																	102952105		2203	4300	6503	SO:0001819	synonymous_variant	9512				proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr7:102952105A>T	AF054182	CCDS5730.1	7q22.1	2007-07-30			ENSG00000105819	ENSG00000105819			9119	protein-coding gene	gene with protein product		603131				9653160	Standard	XM_005250717		Approved	MPPB, MPPP52	uc003vbl.3	O75439	OTTHUMG00000157205	ENST00000249269.4:c.1170A>T	7.37:g.102952105A>T						PMPCB_uc003vbk.1_Silent_p.T390T|PMPCB_uc003vbm.2_Silent_p.T299T|PMPCB_uc010liv.2_Silent_p.T296T|PMPCB_uc010liw.2_Intron|PMPCB_uc011kll.1_Silent_p.T285T|PMPCB_uc011klm.1_Silent_p.T265T	p.T390T	NM_004279	NP_004270	O75439	MPPB_HUMAN			10	1204	+			390					O60416|Q96FV4	Silent	SNP	ENST00000249269.4	37	c.1170A>T	CCDS5730.1																																																																																				0.363	PMPCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347913.1	NM_004279		5	33	0	0	0	0	5	33				
RELN	5649	broad.mit.edu	37	7	103179743	103179743	+	Missense_Mutation	SNP	G	G	T	rs116065504	byFrequency	TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:103179743G>T	ENST00000428762.1	-	45	7121	c.6962C>A	c.(6961-6963)aCg>aAg	p.T2321K	RELN_ENST00000343529.5_Missense_Mutation_p.T2321K|RELN_ENST00000424685.2_Missense_Mutation_p.T2321K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2321					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTCCAAGACCGTATTACCAGA	0.393																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	0		p.T2321T(1)		ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(6961-6963)ACG>AAG		reelin isoform a							57.0	59.0	58.0					7																	103179743		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103179743G>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6962C>A	7.37:g.103179743G>T	ENSP00000392423:p.Thr2321Lys					RELN_uc010liz.2_Missense_Mutation_p.T2321K	p.T2321K	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	45	7122	-			2321					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.6962C>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.436287	0.62955	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.23552	1.9;1.9;1.9	5.35	4.44	0.53790	.	0.247996	0.41605	D	0.000843	T	0.37785	0.1016	L	0.34521	1.04	0.40083	D	0.976166	D;D	0.69078	0.997;0.997	P;D	0.64410	0.785;0.925	T	0.18967	-1.0320	10	0.48119	T	0.1	.	14.9865	0.71351	0.0:0.0:0.8562:0.1438	.	2321;2321	P78509-2;P78509	.;RELN_HUMAN	K	2321	ENSP00000392423:T2321K;ENSP00000345694:T2321K;ENSP00000388446:T2321K	ENSP00000345694:T2321K	T	-	2	0	RELN	102966979	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.839000	0.62810	1.190000	0.43042	0.655000	0.94253	ACG		0.393	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		7	29	1	0	0.00198382	0.00221492	7	29				
PPP1R3A	5506	broad.mit.edu	37	7	113518605	113518605	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:113518605A>G	ENST00000284601.3	-	4	2610	c.2542T>C	c.(2542-2544)Tcc>Ccc	p.S848P		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	848					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ACCCATGAGGATTCTTCCACA	0.373																																						uc010ljy.1		NA																	0		p.S848Y(1)		lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						c.(2542-2544)TCC>CCC		protein phosphatase 1, regulatory (inhibitor)							189.0	175.0	180.0					7																	113518605		2203	4300	6503	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113518605A>G	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2542T>C	7.37:g.113518605A>G	ENSP00000284601:p.Ser848Pro						p.S848P	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			4	2573	-			848					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.2542T>C	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	A	2.150	-0.394799	0.04899	.	.	ENSG00000154415	ENST00000284601	T	0.19532	2.14	5.92	3.45	0.39498	.	0.785223	0.11822	N	0.526101	T	0.15869	0.0382	L	0.48642	1.525	0.09310	N	0.999996	B	0.22851	0.076	B	0.20577	0.03	T	0.26849	-1.0091	10	0.28530	T	0.3	-1.2016	2.6417	0.04973	0.5829:0.1332:0.0771:0.2068	.	848	Q16821	PPR3A_HUMAN	P	848	ENSP00000284601:S848P	ENSP00000284601:S848P	S	-	1	0	PPP1R3A	113305841	0.995000	0.38212	0.998000	0.56505	0.021000	0.10359	0.542000	0.23222	1.074000	0.40909	0.528000	0.53228	TCC		0.373	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		3	127	0	0	0	0	3	127				
IQUB	154865	broad.mit.edu	37	7	123097469	123097469	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:123097469G>A	ENST00000466202.1	-	12	2735	c.2159C>T	c.(2158-2160)gCa>gTa	p.A720V	RNU6-296P_ENST00000384608.1_RNA|IQUB_ENST00000324698.6_Missense_Mutation_p.A720V|RP11-332K15.1_ENST00000419832.1_RNA	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	720					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						ATGAGCAGCTGCTTCATCTTT	0.403																																						uc003vkn.2		NA																	0				ovary(3)|large_intestine(1)	4						c.(2158-2160)GCA>GTA		IQ motif and ubiquitin domain containing							100.0	103.0	102.0					7																	123097469		2203	4300	6503	SO:0001583	missense	154865							g.chr7:123097469G>A	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.2159C>T	7.37:g.123097469G>A	ENSP00000417769:p.Ala720Val					IQUB_uc011kny.1_Missense_Mutation_p.A53V|IQUB_uc003vko.2_Missense_Mutation_p.A720V|IQUB_uc010lkt.2_RNA	p.A720V	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN			12	2736	-			720					A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	ENST00000466202.1	37	c.2159C>T	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459570	0.63401	.	.	ENSG00000164675	ENST00000466202;ENST00000324698	T;T	0.32272	1.46;1.46	5.83	-1.63	0.08345	.	0.573998	0.20072	N	0.099847	T	0.36635	0.0974	L	0.35854	1.095	0.37534	D	0.918026	P	0.52577	0.954	P	0.49451	0.611	T	0.55964	-0.8057	10	0.72032	D	0.01	.	24.2656	0.99989	0.0:0.1377:0.8623:0.0	.	720	Q8NA54	IQUB_HUMAN	V	720	ENSP00000417769:A720V;ENSP00000324882:A720V	ENSP00000324882:A720V	A	-	2	0	IQUB	122884705	0.680000	0.27605	0.015000	0.15790	0.884000	0.51177	0.970000	0.29383	-0.248000	0.09583	-0.185000	0.12909	GCA		0.403	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		8	86	0	0	0	0	8	86				
GRM8	2918	broad.mit.edu	37	7	126173059	126173059	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:126173059T>C	ENST00000339582.2	-	9	3185	c.2377A>G	c.(2377-2379)Att>Gtt	p.I793V	GRM8_ENST00000358373.3_Missense_Mutation_p.I793V|GRM8_ENST00000444921.2_Missense_Mutation_p.I793V|GRM8_ENST00000480995.1_5'Flank			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	793					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GCTAACCAAATGATGCAGGTG	0.398										HNSCC(24;0.065)																												uc003vlr.2		NA																	0				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(2377-2379)ATT>GTT		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						124.0	110.0	115.0					7																	126173059		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173059T>C		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2377A>G	7.37:g.126173059T>C	ENSP00000344173:p.Ile793Val	HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.I793V|GRM8_uc010lkz.1_RNA	p.I793V	NM_000845	NP_000836	O00222	GRM8_HUMAN			8	2688	-		Prostate(267;0.186)	793			Helical; Name=6; (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.2377A>G	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	T	9.253	1.041233	0.19669	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.87809	-2.3;-2.3;-2.3	5.62	5.62	0.85841	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.85252	0.5654	N	0.11427	0.14	0.80722	D	1	P;B	0.51791	0.948;0.018	D;B	0.67103	0.949;0.06	T	0.82703	-0.0326	10	0.14656	T	0.56	.	15.0201	0.71624	0.0:0.0:0.0:1.0	.	793;793	O00222-2;O00222	.;GRM8_HUMAN	V	793	ENSP00000344173:I793V;ENSP00000409790:I793V;ENSP00000351142:I793V	ENSP00000344173:I793V	I	-	1	0	GRM8	125960295	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.870000	0.39529	2.150000	0.67090	0.533000	0.62120	ATT		0.398	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			6	34	0	0	0	0	6	34				
PAX4	5078	broad.mit.edu	37	7	127253104	127253104	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:127253104C>T	ENST00000341640.2	-	6	868	c.663G>A	c.(661-663)gaG>gaA	p.E221E	PAX4_ENST00000378740.2_Silent_p.E221E|PAX4_ENST00000338516.3_Silent_p.E229E|PAX4_ENST00000463946.1_Silent_p.E219E	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	229					cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|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 negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						ACTTGAGCTTCTCTTGCCGAC	0.527																																					Ovarian(113;737 1605 7858 27720 34092)	uc010lld.1		NA																	0				ovary(1)	1						c.(661-663)GAG>GAA		paired box 4							259.0	192.0	215.0					7																	127253104		2203	4300	6503	SO:0001819	synonymous_variant	5078				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:127253104C>T		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.663G>A	7.37:g.127253104C>T						PAX4_uc003vmf.2_Silent_p.E219E|PAX4_uc003vmg.1_Silent_p.E221E|PAX4_uc003vmh.2_Silent_p.E219E	p.E221E	NM_006193	NP_006184	O43316	PAX4_HUMAN			6	869	-			229			Homeobox.		O95161|Q6B0H0	Silent	SNP	ENST00000341640.2	37	c.663G>A	CCDS5797.1																																																																																				0.527	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1			13	68	0	0	0	0	13	68				
MGAM	8972	broad.mit.edu	37	7	141765147	141765147	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:141765147G>T	ENST00000549489.2	+	38	4592	c.4497G>T	c.(4495-4497)gaG>gaT	p.E1499D	MGAM_ENST00000475668.2_Missense_Mutation_p.E1499D	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1499	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCGTGCAGGAGGTGACGGGAC	0.612																																						uc003vwy.2		NA																	0				ovary(2)	2						c.(4495-4497)GAG>GAT		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						36.0	40.0	39.0					7																	141765147		2031	4174	6205	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141765147G>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4497G>T	7.37:g.141765147G>T	ENSP00000447378:p.Glu1499Asp						p.E1499D	NM_004668	NP_004659	O43451	MGA_HUMAN			38	4551	+	Melanoma(164;0.0272)		1499			Glucoamylase.|Lumenal (Potential).		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.4497G>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	8.134	0.783717	0.16189	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.93189	-3.18	3.82	2.92	0.33932	Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.87454	0.6181	L	0.43554	1.36	0.31465	N	0.66907	B	0.09022	0.002	B	0.09377	0.004	T	0.80504	-0.1353	9	0.25751	T	0.34	.	4.2439	0.10662	0.1164:0.0:0.5101:0.3734	.	1499	O43451	MGA_HUMAN	D	1499;1499;1376	ENSP00000447378:E1499D	ENSP00000316431:E1376D	E	+	3	2	MGAM	141411616	0.297000	0.24408	1.000000	0.80357	0.282000	0.26991	-0.306000	0.08178	1.675000	0.50919	0.306000	0.20318	GAG		0.612	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			9	14	1	0	0.00010058	0.000118665	9	14				
CNTNAP2	26047	broad.mit.edu	37	7	147259327	147259327	+	Silent	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:147259327G>T	ENST00000361727.3	+	12	2391	c.1875G>T	c.(1873-1875)ctG>ctT	p.L625L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	625	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGGGGCCTCTGAAAGTTTACT	0.408										HNSCC(39;0.1)																												uc003weu.1		NA																	0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(1873-1875)CTG>CTT		cell recognition molecule Caspr2 precursor							107.0	105.0	106.0					7																	147259327		2203	4300	6503	SO:0001819	synonymous_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147259327G>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1875G>T	7.37:g.147259327G>T		HNSCC(39;0.1)					p.L625L	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		12	2391	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	625			Extracellular (Potential).|Fibrinogen C-terminal.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.1875G>T	CCDS5889.1																																																																																				0.408	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			6	56	1	0	6.55e-12	9.13e-12	6	56				
LONRF1	91694	broad.mit.edu	37	8	12583338	12583338	+	Silent	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:12583338A>T	ENST00000398246.3	-	11	2130	c.2061T>A	c.(2059-2061)gtT>gtA	p.V687V	MIR3926-2_ENST00000578598.1_RNA|LONRF1_ENST00000533751.1_Silent_p.V330V|LONRF1_ENST00000525024.1_Silent_p.V113V	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	687	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		CTTGAGAGTAAACCAAATCAT	0.413																																						uc003wwd.1		NA																	0				ovary(1)	1						c.(2059-2061)GTT>GTA		LON peptidase N-terminal domain and ring finger							84.0	81.0	82.0					8																	12583338		1835	4084	5919	SO:0001819	synonymous_variant	91694				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr8:12583338A>T	AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"""RING-type (C3HC4) zinc fingers"""	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.2061T>A	8.37:g.12583338A>T						LONRF1_uc011kxv.1_Silent_p.V276V|LONRF1_uc010lsp.1_Silent_p.V287V	p.V687V	NM_152271	NP_689484	Q17RB8	LONF1_HUMAN		READ - Rectum adenocarcinoma(644;0.236)	11	2124	-			687			Lon.		B4DM29|B4DU84|Q8TEA0|Q9BSV1	Silent	SNP	ENST00000398246.3	37	c.2061T>A	CCDS5987.2																																																																																				0.413	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251693.2	NM_152271		4	33	0	0	0	0	4	33				
SGCZ	137868	broad.mit.edu	37	8	14095184	14095184	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:14095184C>A	ENST00000382080.1	-	4	1056	c.341G>T	c.(340-342)aGt>aTt	p.S114I	SGCZ_ENST00000421524.2_Missense_Mutation_p.S67I	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	101					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GACCAGCGGACTATCCTGGGA	0.353																																						uc003wwq.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(340-342)AGT>ATT		sarcoglycan zeta							221.0	213.0	216.0					8																	14095184		2203	4300	6503	SO:0001583	missense	137868				cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		g.chr8:14095184C>A	AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.341G>T	8.37:g.14095184C>A	ENSP00000371512:p.Ser114Ile					SGCZ_uc010lss.2_Missense_Mutation_p.S67I	p.S114I	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN		all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)	4	1001	-			101			Extracellular (Potential).		Q6REU0	Missense_Mutation	SNP	ENST00000382080.1	37	c.341G>T	CCDS5992.2	.	.	.	.	.	.	.	.	.	.	c	22.5	4.304197	0.81136	.	.	ENSG00000185053	ENST00000382080;ENST00000421524	D;D	0.94931	-3.56;-3.56	5.42	5.42	0.78866	.	0.040493	0.85682	D	0.000000	D	0.96941	0.9001	M	0.75777	2.31	0.47949	D	0.999557	D;D	0.69078	0.997;0.997	D;D	0.68621	0.959;0.931	D	0.96798	0.9587	10	0.54805	T	0.06	.	18.6034	0.91257	0.0:1.0:0.0:0.0	.	67;114	Q08AT0;Q96LD1-2	.;.	I	114;67	ENSP00000371512:S114I;ENSP00000405224:S67I	ENSP00000371512:S114I	S	-	2	0	SGCZ	14139555	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.935000	0.75886	2.712000	0.92718	0.591000	0.81541	AGT		0.353	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207636.2	NM_139167		56	162	1	0	1.52e-15	2.19e-15	56	162				
TACC1	6867	broad.mit.edu	37	8	38688648	38688648	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:38688648G>A	ENST00000317827.4	+	6	2045	c.1666G>A	c.(1666-1668)Gag>Aag	p.E556K	TACC1_ENST00000348567.4_Missense_Mutation_p.E118K|TACC1_ENST00000520611.1_5'UTR|TACC1_ENST00000443286.2_Missense_Mutation_p.E543K|TACC1_ENST00000519416.1_Missense_Mutation_p.E360K|TACC1_ENST00000522752.1_3'UTR|TACC1_ENST00000330691.6_Missense_Mutation_p.E130K|TACC1_ENST00000518415.1_Missense_Mutation_p.E482K|TACC1_ENST00000379931.3_Missense_Mutation_p.E568K|TACC1_ENST00000520340.1_Missense_Mutation_p.E491K|TACC1_ENST00000276520.8_Missense_Mutation_p.E146K|TACC1_ENST00000520615.1_Missense_Mutation_p.E361K|TACC1_ENST00000520973.1_Missense_Mutation_p.E332K	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	556					cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CTTAGGCATAGAGAAGGAGAC	0.483																																						uc010lwp.2		NA																	0				ovary(1)	1						c.(1666-1668)GAG>AAG		transforming, acidic coiled-coil containing							116.0	104.0	108.0					8																	38688648		2203	4300	6503	SO:0001583	missense	6867				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding	g.chr8:38688648G>A	AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.1666G>A	8.37:g.38688648G>A	ENSP00000321703:p.Glu556Lys					TACC1_uc011lby.1_Missense_Mutation_p.E361K|TACC1_uc003xma.2_5'UTR|TACC1_uc003xlz.2_Missense_Mutation_p.E361K|TACC1_uc003xmc.3_Missense_Mutation_p.E360K|TACC1_uc011lbz.1_Missense_Mutation_p.E543K|TACC1_uc003xmb.3_Missense_Mutation_p.E482K|TACC1_uc003xme.1_Missense_Mutation_p.E130K|TACC1_uc003xmd.1_Missense_Mutation_p.E118K|TACC1_uc010lwo.1_Missense_Mutation_p.E89K|TACC1_uc003xmf.3_Missense_Mutation_p.E146K|TACC1_uc011lca.1_Missense_Mutation_p.E539K|TACC1_uc011lcb.1_Missense_Mutation_p.E332K|TACC1_uc011lcd.1_RNA|TACC1_uc003xmh.3_Missense_Mutation_p.E373K|TACC1_uc010lwq.2_Missense_Mutation_p.E373K	p.E556K	NM_006283	NP_006274	O75410	TACC1_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)		6	2045	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	556					B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Missense_Mutation	SNP	ENST00000317827.4	37	c.1666G>A	CCDS6109.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.326742	0.41197	.	.	ENSG00000147526	ENST00000519416;ENST00000520615;ENST00000443388;ENST00000443286;ENST00000518415;ENST00000521642;ENST00000521050;ENST00000522904;ENST00000330691;ENST00000348567;ENST00000317827;ENST00000379931;ENST00000276520;ENST00000520973	T;T;T;T;T;T;T;T;T;T;T	0.46819	2.87;2.87;3.02;3.02;2.81;0.87;0.86;3.03;3.03;0.9;2.86	5.03	5.03	0.67393	.	0.067191	0.56097	D	0.000031	T	0.60038	0.2238	L	0.47716	1.5	0.43304	D	0.995301	B;B;D;P;P;B;P;P;D;P	0.69078	0.069;0.069;0.997;0.911;0.5;0.028;0.799;0.692;0.984;0.633	B;B;D;P;B;B;B;B;P;B	0.73380	0.033;0.033;0.98;0.65;0.062;0.01;0.364;0.275;0.655;0.184	T	0.52983	-0.8502	10	0.23302	T	0.38	-16.0086	15.8881	0.79269	0.0:0.0:1.0:0.0	.	332;332;543;568;556;118;146;130;360;482	E7EVI4;B4DH49;B4E302;O75410-2;O75410;O75410-5;O75410-6;O75410-4;E7ET87;O75410-7	.;.;.;.;TACC1_HUMAN;.;.;.;.;.	K	360;361;361;543;482;118;130;499;130;118;556;568;146;332	ENSP00000428687:E360K;ENSP00000428450:E361K;ENSP00000393647:E543K;ENSP00000428706:E482K;ENSP00000430355:E499K;ENSP00000332794:E130K;ENSP00000327818:E118K;ENSP00000321703:E556K;ENSP00000369263:E568K;ENSP00000276520:E146K;ENSP00000430959:E332K	ENSP00000276520:E146K	E	+	1	0	TACC1	38807805	1.000000	0.71417	0.930000	0.37139	0.145000	0.21501	5.120000	0.64685	2.495000	0.84180	0.591000	0.81541	GAG		0.483	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1	NM_006283		9	29	0	0	0	0	9	29				
ANK1	286	broad.mit.edu	37	8	41552254	41552254	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:41552254C>T	ENST00000347528.4	-	28	3266	c.3183G>A	c.(3181-3183)ctG>ctA	p.L1061L	ANK1_ENST00000396942.1_Silent_p.L1061L|ANK1_ENST00000289734.7_Silent_p.L1061L|ANK1_ENST00000352337.4_Silent_p.L1061L|ANK1_ENST00000396945.1_Silent_p.L1061L|ANK1_ENST00000379758.2_Silent_p.L1061L|ANK1_ENST00000265709.8_Silent_p.L1102L	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1061	ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCACGAAGTACAGCGGGAAGT	0.607																																						uc003xok.2		NA																	0		p.L1061V(1)		ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9						c.(3181-3183)CTG>CTA		ankyrin 1 isoform 1							178.0	143.0	155.0					8																	41552254		2203	4300	6503	SO:0001819	synonymous_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41552254C>T	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.3183G>A	8.37:g.41552254C>T						NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Silent_p.L377L|ANK1_uc003xoi.2_Silent_p.L1061L|ANK1_uc003xoj.2_Silent_p.L1061L|ANK1_uc003xol.2_Silent_p.L1061L|ANK1_uc003xom.2_Silent_p.L1102L	p.L1061L	NM_020476	NP_065209	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		28	3267	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1061					A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	c.3183G>A	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	6.692	0.496388	0.12762	.	.	ENSG00000029534	ENST00000520299	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	T	0.58264	0.2110	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56007	-0.8050	4	.	.	.	.	8.2957	0.31984	0.0:0.7039:0.2093:0.0867	.	.	.	.	I	383	.	.	V	-	1	0	ANK1	41671411	1.000000	0.71417	1.000000	0.80357	0.579000	0.36224	1.586000	0.36611	2.495000	0.84180	0.462000	0.41574	GTA		0.607	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		8	31	0	0	0	0	8	31				
NCOA2	10499	broad.mit.edu	37	8	71037031	71037031	+	Missense_Mutation	SNP	C	C	A	rs368000611		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:71037031C>A	ENST00000452400.2	-	20	4167	c.3986G>T	c.(3985-3987)cGa>cTa	p.R1329L	NCOA2_ENST00000267974.4_Missense_Mutation_p.R417L	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1329					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			ATGTGCCATTCGGGGTGACAT	0.512			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	uc003xyn.1		NA		Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	RUNXBP2		AML	PAX3/NCOA2(4)	0				lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16						c.(3985-3987)CGA>CTA		nuclear receptor coactivator 2							115.0	125.0	122.0					8																	71037031		1967	4168	6135	SO:0001583	missense	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71037031C>A	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.3986G>T	8.37:g.71037031C>A	ENSP00000399968:p.Arg1329Leu					NCOA2_uc011lfb.1_Missense_Mutation_p.R417L	p.R1329L	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		20	4148	-	Breast(64;0.201)		1329					Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	c.3986G>T	CCDS47872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.346872|5.346872	0.95807|0.95807	.|.	.|.	ENSG00000140396|ENSG00000140396	ENST00000518363|ENST00000452400;ENST00000267974	.|T;T	.|0.28255	.|1.62;1.62	5.82|5.82	5.82|5.82	0.92795|0.92795	.|Domain of unknown function DUF1518 (1);	.|0.101782	.|0.64402	.|D	.|0.000006	.|T	.|0.58623	.|0.2135	M|M	0.72118|0.72118	2.19|2.19	0.47009|0.47009	D|D	0.999282|0.999282	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	.|T	.|0.58836	.|-0.7566	.|10	.|0.72032	.|D	.|0.01	.|.	20.088|20.088	0.97803|0.97803	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|417;1329	.|F8WAJ2;Q15596	.|.;NCOA2_HUMAN	X|L	430|1329;417	.|ENSP00000399968:R1329L;ENSP00000267974:R417L	.|ENSP00000267974:R417L	E|R	-|-	1|2	0|0	NCOA2|NCOA2	71199585|71199585	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.998000|0.998000	0.95712|0.95712	7.487000|7.487000	0.81328|0.81328	2.739000|2.739000	0.93911|0.93911	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.512	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			48	75	1	0	1.52e-22	2.27e-22	48	75				
LY96	23643	broad.mit.edu	37	8	74922334	74922334	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:74922334G>C	ENST00000284818.2	+	3	392	c.301G>C	c.(301-303)Gat>Cat	p.D101H	LY96_ENST00000518893.1_Missense_Mutation_p.D71H	NM_015364.4	NP_056179	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	101					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endosome membrane (GO:0010008)|extracellular region (GO:0005576)|lipopolysaccharide receptor complex (GO:0046696)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|lipopolysaccharide receptor activity (GO:0001875)			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			ATCTGATGACGATTACTCTTT	0.313																																					GBM(131;1357 1748 34893 50149 52212)	uc003yad.2		NA																	0					0						c.(301-303)GAT>CAT		MD-2 protein precursor							101.0	97.0	99.0					8																	74922334		2203	4300	6503	SO:0001583	missense	23643				cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding	g.chr8:74922334G>C	AB018549	CCDS6216.1, CCDS56540.1	8q13.3	2004-01-22			ENSG00000154589	ENSG00000154589			17156	protein-coding gene	gene with protein product		605243				10359581, 11466383	Standard	NM_015364		Approved	MD-2	uc003yad.3	Q9Y6Y9	OTTHUMG00000164504	ENST00000284818.2:c.301G>C	8.37:g.74922334G>C	ENSP00000284818:p.Asp101His						p.D101H	NM_015364	NP_056179	Q9Y6Y9	LY96_HUMAN	Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)		3	392	+	Breast(64;0.0311)		101					B3Y6A5|E5RJJ7	Missense_Mutation	SNP	ENST00000284818.2	37	c.301G>C	CCDS6216.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.386207	0.25031	.	.	ENSG00000154589	ENST00000284818;ENST00000518893	T;T	0.75367	-0.93;-0.93	4.66	1.89	0.25635	MD-2-related lipid-recognition (2);Immunoglobulin E-set (1);	1.667770	0.03073	N	0.157464	D	0.83709	0.5313	M	0.70595	2.14	0.19945	N	0.999945	D	0.56968	0.978	D	0.64877	0.93	T	0.60480	-0.7255	10	0.52906	T	0.07	.	5.9553	0.19269	0.3215:0.0:0.6785:0.0	.	101	Q9Y6Y9	LY96_HUMAN	H	101;71	ENSP00000284818:D101H;ENSP00000430533:D71H	ENSP00000284818:D101H	D	+	1	0	LY96	75084888	0.000000	0.05858	0.380000	0.26093	0.269000	0.26545	-0.824000	0.04438	0.689000	0.31550	-0.218000	0.12543	GAT		0.313	LY96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379032.2	NM_015364		8	46	0	0	0	0	8	46				
PKHD1L1	93035	broad.mit.edu	37	8	110457455	110457455	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:110457455A>T	ENST00000378402.5	+	38	5461	c.5357A>T	c.(5356-5358)cAa>cTa	p.Q1786L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1786	IPT/TIG 10.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTGGAAATCAACAGTTCAGA	0.413										HNSCC(38;0.096)																												uc003yne.2		NA																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(5356-5358)CAA>CTA		fibrocystin L precursor							113.0	106.0	109.0					8																	110457455		1912	4142	6054	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110457455A>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5357A>T	8.37:g.110457455A>T	ENSP00000367655:p.Gln1786Leu	HNSCC(38;0.096)					p.Q1786L	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		38	5461	+			1786			Extracellular (Potential).|IPT/TIG 10.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.5357A>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	A	9.413	1.081129	0.20309	.	.	ENSG00000205038	ENST00000378402	T	0.77098	-1.07	6.03	2.19	0.27852	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.459032	0.21632	N	0.071471	T	0.66954	0.2842	M	0.63428	1.95	0.09310	N	1	B	0.15473	0.013	B	0.25759	0.063	T	0.44937	-0.9295	10	0.11794	T	0.64	.	2.7694	0.05329	0.5567:0.0:0.2602:0.1831	.	1786	Q86WI1	PKHL1_HUMAN	L	1786	ENSP00000367655:Q1786L	ENSP00000367655:Q1786L	Q	+	2	0	PKHD1L1	110526631	0.036000	0.19791	0.965000	0.40720	0.905000	0.53344	1.105000	0.31086	1.104000	0.41587	-0.256000	0.11100	CAA		0.413	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		26	58	0	0	0	0	26	58				
CSMD3	114788	broad.mit.edu	37	8	113317099	113317099	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:113317099C>A	ENST00000297405.5	-	52	8361	c.8117G>T	c.(8116-8118)aGa>aTa	p.R2706I	CSMD3_ENST00000343508.3_Missense_Mutation_p.R2666I|CSMD3_ENST00000352409.3_Missense_Mutation_p.R2636I|CSMD3_ENST00000455883.2_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2706	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATTCGCCATCTTCCATGTTC	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(8116-8118)AGA>ATA		CUB and Sushi multiple domains 3 isoform 1							89.0	76.0	80.0					8																	113317099		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113317099C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8117G>T	8.37:g.113317099C>A	ENSP00000297405:p.Arg2706Ile	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.R1908I|CSMD3_uc003ynt.2_Missense_Mutation_p.R2666I|CSMD3_uc011lhx.1_Intron	p.R2706I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			52	8276	-			2706			Extracellular (Potential).|Sushi 16.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.8117G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614576	0.87359	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000352409	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.18	5.18	0.71444	Complement control module (2);Sushi/SCR/CCP (3);	0.073739	0.48767	D	0.000170	T	0.68485	0.3006	L	0.35593	1.075	0.80722	D	1	D;B	0.61697	0.99;0.178	D;B	0.65773	0.938;0.108	T	0.61647	-0.7020	10	0.15952	T	0.53	.	19.0673	0.93116	0.0:1.0:0.0:0.0	.	2706;2666	Q7Z407;Q7Z407-2	CSMD3_HUMAN;.	I	2666;2706;1976;2636	ENSP00000345799:R2666I;ENSP00000297405:R2706I;ENSP00000341558:R1976I;ENSP00000343124:R2636I	ENSP00000297405:R2706I	R	-	2	0	CSMD3	113386275	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.931000	0.56529	2.547000	0.85894	0.655000	0.94253	AGA		0.393	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		4	28	1	0	0.00909568	0.00982103	4	28				
CSMD3	114788	broad.mit.edu	37	8	113364743	113364743	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:113364743G>T	ENST00000297405.5	-	39	6401	c.6157C>A	c.(6157-6159)Cct>Act	p.P2053T	CSMD3_ENST00000343508.3_Missense_Mutation_p.P2013T|CSMD3_ENST00000352409.3_Missense_Mutation_p.P1983T|CSMD3_ENST00000455883.2_Missense_Mutation_p.P1949T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2053	Sushi 11. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P2053S(1)|p.P2013S(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTGGTTCAGGACAGGAATCC	0.323										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(6157-6159)CCT>ACT		CUB and Sushi multiple domains 3 isoform 1							107.0	102.0	104.0					8																	113364743		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113364743G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6157C>A	8.37:g.113364743G>T	ENSP00000297405:p.Pro2053Thr	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.P1255T|CSMD3_uc003ynt.2_Missense_Mutation_p.P2013T|CSMD3_uc011lhx.1_Missense_Mutation_p.P1949T	p.P2053T	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			39	6316	-			2053			Extracellular (Potential).|Sushi 11.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.6157C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466855	0.84425	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	4.83	4.83	0.62350	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.82093	0.4962	M	0.86097	2.795	0.80722	D	1	D;P;P	0.59767	0.986;0.738;0.835	D;P;P	0.63283	0.913;0.464;0.562	T	0.81665	-0.0830	10	0.33940	T	0.23	.	18.476	0.90792	0.0:0.0:1.0:0.0	.	1949;2053;2013	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	T	2013;2053;1323;1949;1983	ENSP00000345799:P2013T;ENSP00000297405:P2053T;ENSP00000341558:P1323T;ENSP00000412263:P1949T;ENSP00000343124:P1983T	ENSP00000297405:P2053T	P	-	1	0	CSMD3	113433919	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.576000	0.98192	2.670000	0.90874	0.655000	0.94253	CCT		0.323	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		16	68	1	0	1.36e-06	1.71e-06	16	68				
ATAD2	29028	broad.mit.edu	37	8	124349867	124349867	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:124349867C>T	ENST00000287394.5	-	21	3156	c.3049G>A	c.(3049-3051)Gag>Aag	p.E1017K	ATAD2_ENST00000521903.1_Missense_Mutation_p.E335K	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1017	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ACTAATACCTCATCAGGGTCA	0.363																																						uc003yqh.3		NA																	0				ovary(2)	2						c.(3049-3051)GAG>AAG		ATPase family, AAA domain containing 2							112.0	103.0	106.0					8																	124349867		2203	4300	6503	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124349867C>T	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.3049G>A	8.37:g.124349867C>T	ENSP00000287394:p.Glu1017Lys					ATAD2_uc011lii.1_Missense_Mutation_p.E808K|ATAD2_uc003yqi.3_RNA	p.E1017K	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		21	3157	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		1017			Bromo.		Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.3049G>A	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	C	36	5.721658	0.96839	.	.	ENSG00000156802	ENST00000287394;ENST00000521903	D;D	0.82711	-1.64;-1.64	5.58	5.58	0.84498	Bromodomain (6);	0.246239	0.44483	D	0.000457	D	0.90752	0.7097	M	0.72479	2.2	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.89820	0.3988	10	0.48119	T	0.1	-19.549	19.9414	0.97163	0.0:1.0:0.0:0.0	.	1017	Q6PL18	ATAD2_HUMAN	K	1017;335	ENSP00000287394:E1017K;ENSP00000429213:E335K	ENSP00000287394:E1017K	E	-	1	0	ATAD2	124419048	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.711000	0.84669	2.779000	0.95612	0.650000	0.86243	GAG		0.363	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		8	40	0	0	0	0	8	40				
COL22A1	169044	broad.mit.edu	37	8	139601515	139601515	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:139601515C>A	ENST00000303045.6	-	65	5308	c.4862G>T	c.(4861-4863)gGt>gTt	p.G1621V	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1601V|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1621					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTCACATTACCCGGCCGGGC	0.587										HNSCC(7;0.00092)																												uc003yvd.2		NA																	0				ovary(11)|pancreas(1)|skin(1)	13						c.(4861-4863)GGT>GTT		collagen, type XXII, alpha 1							30.0	32.0	31.0					8																	139601515		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139601515C>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4862G>T	8.37:g.139601515C>A	ENSP00000303153:p.Gly1621Val	HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Missense_Mutation_p.G901V	p.G1621V	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		65	5309	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1621					B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.4862G>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	9.772	1.172938	0.21704	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.89343	-2.5;-2.41	6.17	4.36	0.52297	.	0.561082	0.15950	N	0.236748	D	0.93446	0.7909	M	0.62723	1.935	0.09310	N	1	D;P	0.71674	0.998;0.624	D;B	0.74674	0.984;0.154	D	0.87581	0.2484	10	0.62326	D	0.03	.	16.6005	0.84815	0.0:0.6127:0.3873:0.0	.	1601;1621	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	V	1621;1601;1314	ENSP00000303153:G1621V;ENSP00000387655:G1601V	ENSP00000303153:G1621V	G	-	2	0	COL22A1	139670697	0.000000	0.05858	0.001000	0.08648	0.259000	0.26198	0.838000	0.27572	0.911000	0.36747	0.655000	0.94253	GGT		0.587	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		6	51	1	0	0.00116845	0.00131489	6	51				
FAM83H	286077	broad.mit.edu	37	8	144812599	144812599	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:144812599C>T	ENST00000388913.3	-	2	279	c.154G>A	c.(154-156)Gca>Aca	p.A52T	MIR4664_ENST00000583819.1_RNA	NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	52					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AAGTCTGGTGCCCCCTCGGTA	0.627																																						uc003yzk.2		NA																	0				lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(154-156)GCA>ACA		FAM83H							58.0	63.0	61.0					8																	144812599		2044	4179	6223	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144812599C>T	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.154G>A	8.37:g.144812599C>T	ENSP00000373565:p.Ala52Thr					FAM83H_uc010mfk.1_5'Flank	p.A52T	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		2	223	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		52					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.154G>A	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	c	28.4	4.916646	0.92249	.	.	ENSG00000180921	ENST00000388913	T	0.11712	2.75	4.85	4.85	0.62838	.	0.204237	0.41294	D	0.000910	T	0.16471	0.0396	L	0.27053	0.805	0.39301	D	0.964915	D	0.57257	0.979	P	0.55508	0.777	T	0.06770	-1.0808	10	0.30854	T	0.27	.	17.3287	0.87257	0.0:1.0:0.0:0.0	.	52	Q6ZRV2	FA83H_HUMAN	T	52	ENSP00000373565:A52T	ENSP00000373565:A52T	A	-	1	0	FAM83H	144884587	0.988000	0.35896	1.000000	0.80357	0.937000	0.57800	2.469000	0.45110	2.421000	0.82119	0.549000	0.68633	GCA		0.627	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		26	64	0	0	0	0	26	64				
PRUNE2	158471	broad.mit.edu	37	9	79325656	79325656	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr9:79325656A>G	ENST00000376718.3	-	8	1657	c.1534T>C	c.(1534-1536)Tct>Cct	p.S512P	PRUNE2_ENST00000428286.1_Missense_Mutation_p.S153P	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	512					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TAGTCTGCAGAATGAGAAGAT	0.547																																						uc010mpk.2		NA																	0					0						c.(1534-1536)TCT>CCT		prune homolog 2							41.0	39.0	40.0					9																	79325656		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79325656A>G	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.1534T>C	9.37:g.79325656A>G	ENSP00000365908:p.Ser512Pro						p.S512P	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			8	1658	-			512					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.1534T>C	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	A	18.73	3.686055	0.68157	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.67698	-0.18;-0.28	5.71	5.71	0.89125	.	0.000000	0.49305	D	0.000153	T	0.74749	0.3757	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77781	-0.2459	10	0.87932	D	0	-14.8352	15.9822	0.80121	1.0:0.0:0.0:0.0	.	512	Q8WUY3	PRUN2_HUMAN	P	512;153;511	ENSP00000365908:S512P;ENSP00000397425:S153P	ENSP00000365908:S512P	S	-	1	0	PRUNE2	78515476	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.746000	0.55127	2.186000	0.69663	0.533000	0.62120	TCT		0.547	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		20	26	0	0	0	0	20	26				
C9orf89	84270	broad.mit.edu	37	9	95872917	95872917	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr9:95872917G>T	ENST00000375464.2	+	3	346	c.218G>T	c.(217-219)gGt>gTt	p.G73V	C9orf89_ENST00000488630.1_3'UTR	NM_032310.3	NP_115686.3	Q96LW7	BINCA_HUMAN	chromosome 9 open reading frame 89	73	CARD.				negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	CARD domain binding (GO:0050700)			endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						CAGCGGAGCGGTGAGCGGGAC	0.642																																						uc004atd.2		NA																	0					0						c.(217-219)GGT>GTT		chromosome 9 open reading frame 89							87.0	86.0	86.0					9																	95872917		2203	4300	6503	SO:0001583	missense	84270				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|nucleus	CARD domain binding	g.chr9:95872917G>T	AK057716	CCDS6702.2	9q22.32	2012-03-16			ENSG00000165233	ENSG00000165233			28148	protein-coding gene	gene with protein product	"""Bcl10-interacting protein with CARD"""					12477932	Standard	XM_005252273		Approved	MGC11115, bA370F5.1, BinCARD	uc004atd.3	Q96LW7	OTTHUMG00000020243	ENST00000375464.2:c.218G>T	9.37:g.95872917G>T	ENSP00000364613:p.Gly73Val					C9orf89_uc004ate.2_RNA|C9orf89_uc004atf.2_RNA	p.G73V	NM_032310	NP_115686	Q96LW7	BINCA_HUMAN			3	396	+			73			CARD.		Q5BJH8|Q9BSY2	Missense_Mutation	SNP	ENST00000375464.2	37	c.218G>T	CCDS6702.2	.	.	.	.	.	.	.	.	.	.	G	16.54	3.150901	0.57151	.	.	ENSG00000165233	ENST00000375464	T	0.44482	0.92	4.8	3.9	0.45041	.	0.061993	0.64402	D	0.000004	T	0.63034	0.2477	.	.	.	0.35402	D	0.791655	D	0.89917	1.0	D	0.97110	1.0	T	0.74575	-0.3620	9	0.87932	D	0	.	11.2346	0.48933	0.0914:0.0:0.9086:0.0	.	73	Q96LW7-2	.	V	73	ENSP00000364613:G73V	ENSP00000364613:G73V	G	+	2	0	C9orf89	94912738	0.998000	0.40836	0.017000	0.16124	0.860000	0.49131	5.522000	0.67092	1.155000	0.42497	0.491000	0.48974	GGT		0.642	C9orf89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053128.1	NM_032310		46	72	1	0	1.47e-37	2.21e-37	46	72				
GRIN3A	116443	broad.mit.edu	37	9	104448969	104448969	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr9:104448969T>C	ENST00000361820.3	-	2	1813	c.1213A>G	c.(1213-1215)Atg>Gtg	p.M405V		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	405					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	GGTTGGATCATGGTGGCTGTG	0.468																																						uc004bbp.1		NA																	0				ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(1213-1215)ATG>GTG		glutamate receptor, ionotropic,	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						137.0	108.0	118.0					9																	104448969		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104448969T>C		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1213A>G	9.37:g.104448969T>C	ENSP00000355155:p.Met405Val					GRIN3A_uc004bbq.1_Missense_Mutation_p.M405V	p.M405V	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN			2	1814	-		Acute lymphoblastic leukemia(62;0.0568)	405			Extracellular (Potential).		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.1213A>G	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	T	12.20	1.866966	0.32977	.	.	ENSG00000198785	ENST00000361820	D	0.85629	-2.01	5.83	5.83	0.93111	.	0.105466	0.64402	D	0.000003	T	0.81527	0.4841	L	0.43152	1.355	0.45390	D	0.998375	B	0.06786	0.001	B	0.08055	0.003	T	0.76613	-0.2895	10	0.46703	T	0.11	.	16.2147	0.82198	0.0:0.0:0.0:1.0	.	405	Q8TCU5	NMD3A_HUMAN	V	405	ENSP00000355155:M405V	ENSP00000355155:M405V	M	-	1	0	GRIN3A	103488790	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.883000	0.39658	2.231000	0.72958	0.460000	0.39030	ATG		0.468	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			25	27	0	0	0	0	25	27				
DEC1	50514	broad.mit.edu	37	9	118162697	118162697	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr9:118162697G>T	ENST00000374016.1	+	6	592	c.73G>T	c.(73-75)Gtg>Ttg	p.V25L		NM_017418.2	NP_059114.1	Q9P2X7	DEC1_HUMAN	deleted in esophageal cancer 1	25					negative regulation of cell proliferation (GO:0008285)					kidney(1)|large_intestine(1)|ovary(1)	3						ccttcttgccgtgttacacat	0.463																																						uc004bjk.1		NA																	0				ovary(1)	1						c.(73-75)GTG>TTG		deleted in esophageal cancer 1							152.0	139.0	143.0					9																	118162697		2203	4300	6503	SO:0001583	missense	50514				negative regulation of cell proliferation			g.chr9:118162697G>T	AB022761	CCDS6812.1	9q32	2008-02-05			ENSG00000173077	ENSG00000173077			23658	protein-coding gene	gene with protein product		604767				8603412, 10612805	Standard	NM_017418		Approved	CTS9	uc004bjk.1	Q9P2X7	OTTHUMG00000020549	ENST00000374016.1:c.73G>T	9.37:g.118162697G>T	ENSP00000363128:p.Val25Leu					DEC1_uc004bjl.1_Intron	p.V25L	NM_017418	NP_059114	Q9P2X7	DEC1_HUMAN			6	592	+			25						Missense_Mutation	SNP	ENST00000374016.1	37	c.73G>T	CCDS6812.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.413358	0.01145	.	.	ENSG00000173077	ENST00000374016	T	0.55760	0.5	1.19	-2.38	0.06622	.	.	.	.	.	T	0.38453	0.1041	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09378	-1.0677	8	0.87932	D	0	.	5.195	0.15232	0.351:0.172:0.477:0.0	.	25	Q9P2X7	DEC1_HUMAN	L	25	ENSP00000363128:V25L	ENSP00000363128:V25L	V	+	1	0	DEC1	117202518	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.681000	0.00837	-2.988000	0.00280	-2.213000	0.00299	GTG		0.463	DEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053791.1	NM_017418		16	75	1	0	1.15e-07	1.49e-07	16	75				
DNM1	1759	broad.mit.edu	37	9	131001792	131001792	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr9:131001792C>T	ENST00000372923.3	+	12	1583	c.1491C>T	c.(1489-1491)gcC>gcT	p.A497A	DNM1_ENST00000475805.1_Silent_p.A497A|DNM1_ENST00000393594.3_Silent_p.A497A|DNM1_ENST00000341179.7_Silent_p.A497A|DNM1_ENST00000486160.1_Silent_p.A497A	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	497					endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						TAGGCTTTGCCAAGTGAGTGC	0.512																																					GBM(113;146 1575 2722 28670 29921)	uc011mau.1		NA																	0				ovary(2)	2						c.(1489-1491)GCC>GCT		dynamin 1 isoform 1							251.0	248.0	249.0					9																	131001792		2203	4300	6503	SO:0001819	synonymous_variant	1759				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	g.chr9:131001792C>T	L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.1491C>T	9.37:g.131001792C>T						DNM1_uc010mxr.2_Silent_p.A497A|DNM1_uc011mat.1_Silent_p.A497A|DNM1_uc004bub.1_5'Flank|DNM1_uc004buc.1_5'Flank|DNM1_uc004bud.3_5'Flank	p.A497A	NM_004408	NP_004399	Q05193	DYN1_HUMAN			12	1578	+			497					A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Silent	SNP	ENST00000372923.3	37	c.1491C>T	CCDS6895.1																																																																																				0.512	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	NM_004408		144	202	0	0	0	0	144	202				
RAPGEF1	2889	broad.mit.edu	37	9	134503939	134503939	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr9:134503939C>T	ENST00000372189.3	-	8	1086	c.963G>A	c.(961-963)agG>agA	p.R321R	RAPGEF1_ENST00000372190.3_Silent_p.R339R|RAPGEF1_ENST00000372195.1_Silent_p.R338R|RAPGEF1_ENST00000481260.1_5'UTR	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	321					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GCATTACCTGCCTATTGATTC	0.612																																						uc004cbc.2		NA																	0				lung(3)|ovary(2)|breast(1)|skin(1)	7						c.(961-963)AGG>AGA		guanine nucleotide-releasing factor 2 isoform a							30.0	32.0	31.0					9																	134503939		1892	4108	6000	SO:0001819	synonymous_variant	2889				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr9:134503939C>T	BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.963G>A	9.37:g.134503939C>T						RAPGEF1_uc004cbb.2_Silent_p.R339R|RAPGEF1_uc010mzm.2_5'Flank|RAPGEF1_uc010mzn.2_Silent_p.R326R|RAPGEF1_uc004cbd.2_Silent_p.R326R	p.R321R	NM_005312	NP_005303	Q13905	RPGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)	8	1093	-		Myeloproliferative disorder(178;0.204)	321					Q5JUE4|Q8IV73	Silent	SNP	ENST00000372189.3	37	c.963G>A	CCDS48047.1																																																																																				0.612	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312		13	31	0	0	0	0	13	31				
LHX3	8022	broad.mit.edu	37	9	139090618	139090618	+	Missense_Mutation	SNP	C	C	A	rs544993271		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr9:139090618C>A	ENST00000371748.5	-	5	751	c.655G>T	c.(655-657)Gcc>Tcc	p.A219S	LHX3_ENST00000371746.3_Missense_Mutation_p.A224S	NM_178138.4	NP_835258.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	219					inner ear development (GO:0048839)|lung development (GO:0030324)|medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|placenta development (GO:0001890)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron cell fate specification (GO:0021520)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		TGCCGGCCGGCGTCCTTCTTC	0.706																																						uc004cha.2		NA																	0				skin(1)	1						c.(655-657)GCC>TCC		LIM homeobox protein 3 isoform a							18.0	21.0	20.0					9																	139090618		2180	4246	6426	SO:0001583	missense	8022				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:139090618C>A	AF096169	CCDS6994.1, CCDS6995.1	9q34.3	2011-06-20			ENSG00000107187	ENSG00000107187		"""Homeoboxes / LIM class"""	6595	protein-coding gene	gene with protein product		600577				10598593, 10717474	Standard	NM_178138		Approved		uc004cgz.3	Q9UBR4	OTTHUMG00000020924	ENST00000371748.5:c.655G>T	9.37:g.139090618C>A	ENSP00000360813:p.Ala219Ser					LHX3_uc004cgz.2_Missense_Mutation_p.A224S	p.A219S	NM_178138	NP_835258	Q9UBR4	LHX3_HUMAN		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)	5	752	-		Myeloproliferative disorder(178;0.0511)	219					Q5TB39|Q5TB40|Q9NZB5|Q9P0I8|Q9P0I9	Missense_Mutation	SNP	ENST00000371748.5	37	c.655G>T	CCDS6994.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099722	0.76983	.	.	ENSG00000107187	ENST00000371748;ENST00000371746;ENST00000325195	D;D	0.95588	-3.75;-2.68	3.31	3.31	0.37934	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.95004	0.8383	M	0.73962	2.25	0.80722	D	1	P;B	0.34837	0.472;0.114	B;B	0.39876	0.312;0.141	D	0.95512	0.8587	10	0.59425	D	0.04	.	14.1194	0.65177	0.0:1.0:0.0:0.0	.	219;224	Q9UBR4;F1T0D9	LHX3_HUMAN;.	S	219;224;222	ENSP00000360813:A219S;ENSP00000360811:A224S	ENSP00000319224:A222S	A	-	1	0	LHX3	138230439	1.000000	0.71417	0.994000	0.49952	0.966000	0.64601	7.202000	0.77856	1.849000	0.53698	0.555000	0.69702	GCC		0.706	LHX3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055048.3			17	79	1	0	9.17e-09	1.23e-08	17	79				
EHMT1	79813	broad.mit.edu	37	9	140611505	140611505	+	Silent	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr9:140611505G>A	ENST00000460843.1	+	3	540	c.513G>A	c.(511-513)acG>acA	p.T171T	EHMT1_ENST00000462484.1_Silent_p.T171T|EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Silent_p.T140T	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	171					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TTCCCCAGACGCCAGCCGCCC	0.662																																						uc011mfc.1		NA																	0				breast(2)|pancreas(1)	3						c.(511-513)ACG>ACA		euchromatic histone-lysine N-methyltransferase 1							27.0	30.0	29.0					9																	140611505		2198	4294	6492	SO:0001819	synonymous_variant	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140611505G>A	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.513G>A	9.37:g.140611505G>A						EHMT1_uc004coa.2_Silent_p.T171T|EHMT1_uc004cob.1_Silent_p.T140T	p.T171T	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	3	550	+	all_cancers(76;0.164)		171					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	ENST00000460843.1	37	c.513G>A	CCDS7050.2																																																																																				0.662	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		36	47	0	0	0	0	36	47				
WWC3	55841	broad.mit.edu	37	X	10096607	10096607	+	Missense_Mutation	SNP	C	C	T	rs374468776		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:10096607C>T	ENST00000380861.4	+	17	2682	c.2291C>T	c.(2290-2292)aCg>aTg	p.T764M	WWC3_ENST00000454666.1_Missense_Mutation_p.T764M	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	764					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GATGCGGTGACGGTGCTCCTG	0.667																																						uc004csx.3		NA																	0				ovary(4)	4						c.(2290-2292)ACG>ATG		WWC family member 3			MET/THR	0,3826		0,0,1629,568	32.0	26.0	28.0		2291	4.9	0.6	X		28	1,6722		0,1,2427,1867	no	missense	WWC3	NM_015691.3	81	0,1,4056,2435	TT,TC,CC,C		0.0149,0.0,0.0095	possibly-damaging	764/1093	10096607	1,10548	2197	4295	6492	SO:0001583	missense	55841							g.chrX:10096607C>T	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.2291C>T	X.37:g.10096607C>T	ENSP00000370242:p.Thr764Met					WWC3_uc010nds.2_Missense_Mutation_p.T428M|WWC3_uc010ndt.2_RNA	p.T764M	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN			17	2489	+			764			Potential.		A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	ENST00000380861.4	37	c.2291C>T	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	c	12.82	2.051698	0.36181	0.0	1.49E-4	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000543412	T;T	0.05855	3.38;3.38	4.95	4.95	0.65309	.	0.452085	0.25872	N	0.027750	T	0.11110	0.0271	M	0.69823	2.125	0.30444	N	0.775909	P	0.45396	0.857	B	0.39217	0.294	T	0.04825	-1.0924	9	.	.	.	-10.8975	17.6585	0.88184	0.0:1.0:0.0:0.0	.	764	Q9ULE0	WWC3_HUMAN	M	764;764;259	ENSP00000370242:T764M;ENSP00000399584:T764M	.	T	+	2	0	WWC3	10056607	1.000000	0.71417	0.641000	0.29422	0.010000	0.07245	5.784000	0.68990	2.187000	0.69744	0.525000	0.51046	ACG		0.667	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		4	24	0	0	0	0	4	24				
PHKA2	5256	broad.mit.edu	37	X	18919705	18919705	+	Silent	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:18919705G>T	ENST00000379942.4	-	27	3590	c.2925C>A	c.(2923-2925)tcC>tcA	p.S975S		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	975					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TGGATGTGGAGGAGTGGATAG	0.557																																						uc004cyv.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2923-2925)TCC>TCA		phosphorylase kinase, alpha 2 (liver)							143.0	123.0	130.0					X																	18919705		2203	4300	6503	SO:0001819	synonymous_variant	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18919705G>T		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.2925C>A	X.37:g.18919705G>T						PHKA2_uc004cyu.3_Silent_p.S273S|PHKA2_uc010nfe.1_Silent_p.S25S|PHKA2_uc010nff.1_Intron	p.S975S	NM_000292	NP_000283	P46019	KPB2_HUMAN			27	3355	-	Hepatocellular(33;0.183)		975					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Silent	SNP	ENST00000379942.4	37	c.2925C>A	CCDS14190.1																																																																																				0.557	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		11	41	1	0	4.69e-08	6.13e-08	11	41				
PHEX	5251	broad.mit.edu	37	X	22129609	22129609	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:22129609G>C	ENST00000379374.4	+	10	1669	c.1104G>C	c.(1102-1104)tgG>tgC	p.W368C	PHEX_ENST00000418858.3_Missense_Mutation_p.W71C|PHEX_ENST00000535894.1_Missense_Mutation_p.W271C|PHEX_ENST00000537599.1_Missense_Mutation_p.W368C	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	368					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						ATTTGGTGTGGAGAATGGTTT	0.398																																						uc004dah.2		NA																	0				ovary(2)|lung(1)	3						c.(1102-1104)TGG>TGC		phosphate-regulating neutral endopeptidase							211.0	198.0	202.0					X																	22129609		2203	4300	6503	SO:0001583	missense	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22129609G>C	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.1104G>C	X.37:g.22129609G>C	ENSP00000368682:p.Trp368Cys					PHEX_uc011mjr.1_Missense_Mutation_p.W368C|PHEX_uc011mjs.1_Missense_Mutation_p.W271C	p.W368C	NM_000444	NP_000435	P78562	PHEX_HUMAN			10	1307	+			368			Extracellular (Potential).		O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	ENST00000379374.4	37	c.1104G>C	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945792	0.73672	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894;ENST00000418858	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.72	5.72	0.89469	Peptidase M13 (1);	0.000000	0.85682	D	0.000000	D	0.90940	0.7152	M	0.92026	3.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.92709	0.6181	10	0.87932	D	0	.	18.5109	0.90916	0.0:0.0:1.0:0.0	.	368;368	F5GXU4;P78562	.;PHEX_HUMAN	C	368;368;271;71	ENSP00000368682:W368C;ENSP00000440362:W368C;ENSP00000439418:W271C;ENSP00000443531:W71C	ENSP00000368682:W368C	W	+	3	0	PHEX	22039530	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.944000	0.87722	2.413000	0.81919	0.600000	0.82982	TGG		0.398	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444		42	201	0	0	0	0	42	201				
DCAF8L2	347442	broad.mit.edu	37	X	27765882	27765882	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:27765882G>T	ENST00000451261.2	+	5	1269	c.870G>T	c.(868-870)atG>atT	p.M290I		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	290										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						CTCTGGCCATGTGTGCCCGTG	0.502																																						uc011mjy.1		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(868-870)ATG>ATT		DDB1 and CUL4 associated factor 8-like 2							152.0	109.0	122.0					X																	27765882		692	1591	2283	SO:0001583	missense	347442							g.chrX:27765882G>T		CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"""WD repeat domain containing"""	31811	protein-coding gene	gene with protein product			"""WD repeat domain 42C"""	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.870G>T	X.37:g.27765882G>T	ENSP00000462745:p.Met290Ile						p.M290I	NM_001136533	NP_001130005					1	957	+								B2RXH9|J3KT06	Missense_Mutation	SNP	ENST00000451261.2	37	c.870G>T	CCDS59162.1																																																																																				0.502	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	XM_293354		8	23	1	0	0.00307968	0.00342499	8	23				
NR0B1	190	broad.mit.edu	37	X	30327463	30327463	+	Silent	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:30327463G>A	ENST00000378970.4	-	1	252	c.18C>T	c.(16-18)caC>caT	p.H6H	NR0B1_ENST00000453287.1_Silent_p.H6H|NR0B1_ENST00000378963.1_5'Flank	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	6	4 X 67 AA tandem repeats.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|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)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	CCTGCCACTGGTGGTTCTCGC	0.662																																						uc004dcf.3		NA																	0				ovary(1)|lung(1)	2						c.(16-18)CAC>CAT		nuclear receptor subfamily 0, group B, member 1	Dexamethasone(DB01234)|Tretinoin(DB00755)						8.0	8.0	8.0					X																	30327463		1749	3499	5248	SO:0001819	synonymous_variant	190				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding	g.chrX:30327463G>A	S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"""Nuclear hormone receptors"""	7960	protein-coding gene	gene with protein product		300473	"""dosage-sensitive sex reversal"""	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.18C>T	X.37:g.30327463G>A							p.H6H	NM_000475	NP_000466	P51843	NR0B1_HUMAN			1	33	-			6			4 X 67 AA tandem repeats.|1.		Q96F69	Silent	SNP	ENST00000378970.4	37	c.18C>T	CCDS14223.1																																																																																				0.662	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056161.1	NM_000475		6	14	0	0	0	0	6	14				
FAM47B	170062	broad.mit.edu	37	X	34962805	34962805	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:34962805C>G	ENST00000329357.5	+	1	1893	c.1857C>G	c.(1855-1857)gaC>gaG	p.D619E		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	619										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GGACTTACGACTCTGTTAAGA	0.403																																						uc004ddi.1		NA																	0				ovary(3)|breast(1)	4						c.(1855-1857)GAC>GAG		hypothetical protein LOC170062							152.0	137.0	142.0					X																	34962805		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34962805C>G	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1857C>G	X.37:g.34962805C>G	ENSP00000328307:p.Asp619Glu						p.D619E	NM_152631	NP_689844	Q8NA70	FA47B_HUMAN			1	1875	+			619					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.1857C>G	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	C	0.504	-0.869571	0.02570	.	.	ENSG00000189132	ENST00000329357	T	0.14640	2.49	0.843	-0.501	0.12008	.	.	.	.	.	T	0.10981	0.0268	L	0.56280	1.765	0.09310	N	1	P	0.40970	0.734	B	0.39503	0.301	T	0.28839	-1.0031	8	0.14252	T	0.57	.	.	.	.	.	619	Q8NA70	FA47B_HUMAN	E	619	ENSP00000328307:D619E	ENSP00000328307:D619E	D	+	3	2	FAM47B	34872726	0.015000	0.18098	0.001000	0.08648	0.012000	0.07955	0.303000	0.19210	-0.236000	0.09753	0.292000	0.19580	GAC		0.403	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		29	162	0	0	0	0	29	162				
CXorf22	170063	broad.mit.edu	37	X	35990013	35990013	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:35990013T>C	ENST00000297866.5	+	13	2251	c.2185T>C	c.(2185-2187)Tcc>Ccc	p.S729P		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	729										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ATCAGAACCATCCACTCCACA	0.323																																						uc004ddj.2		NA																	0				large_intestine(1)|lung(1)|ovary(1)	3						c.(2185-2187)TCC>CCC		hypothetical protein LOC170063							27.0	23.0	24.0					X																	35990013		2201	4297	6498	SO:0001583	missense	170063							g.chrX:35990013T>C	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2185T>C	X.37:g.35990013T>C	ENSP00000297866:p.Ser729Pro					CXorf22_uc010ngv.2_RNA	p.S729P	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN			13	2244	+			729					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.2185T>C	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	T	9.382	1.073255	0.20147	.	.	ENSG00000165164	ENST00000297866	T	0.16073	2.37	5.48	1.45	0.22620	.	0.368453	0.31495	N	0.007547	T	0.23572	0.0570	M	0.64997	1.995	0.09310	N	1	D	0.53151	0.958	P	0.54312	0.748	T	0.08889	-1.0700	10	0.34782	T	0.22	-2.2517	4.8807	0.13677	0.3403:0.0:0.1647:0.495	.	729	Q6ZTR5	CX022_HUMAN	P	729	ENSP00000297866:S729P	ENSP00000297866:S729P	S	+	1	0	CXorf22	35899934	0.218000	0.23608	0.016000	0.15963	0.005000	0.04900	0.310000	0.19356	-0.089000	0.12484	-0.544000	0.04233	TCC		0.323	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		3	12	0	0	0	0	3	12				
FAM47C	442444	broad.mit.edu	37	X	37026701	37026701	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:37026701G>T	ENST00000358047.3	+	1	270	c.218G>T	c.(217-219)cGt>cTt	p.R73L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	73										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GTTTGTCGCCGTGACGAGTTT	0.527																																						uc004ddl.1		NA																	0				ovary(3)	3						c.(217-219)CGT>CTT		hypothetical protein LOC442444							78.0	71.0	74.0					X																	37026701		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37026701G>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.218G>T	X.37:g.37026701G>T	ENSP00000367913:p.Arg73Leu						p.R73L	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	232	+			73					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.218G>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.979863	0.00448	.	.	ENSG00000198173	ENST00000358047	T	0.20738	2.05	0.502	-1.0	0.10196	.	.	.	.	.	T	0.11922	0.0290	L	0.32530	0.975	0.09310	N	1	B	0.09022	0.002	B	0.15484	0.013	T	0.34104	-0.9842	8	0.30078	T	0.28	.	.	.	.	.	73	Q5HY64	FA47C_HUMAN	L	73	ENSP00000367913:R73L	ENSP00000367913:R73L	R	+	2	0	FAM47C	36936622	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.030000	0.13688	-1.473000	0.01881	-0.708000	0.03648	CGT		0.527	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		23	80	1	0	1.23e-08	1.64e-08	23	80				
USP9X	8239	broad.mit.edu	37	X	41031206	41031206	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:41031206C>G	ENST00000324545.8	+	21	3776	c.3143C>G	c.(3142-3144)cCg>cGg	p.P1048R	USP9X_ENST00000378308.2_Missense_Mutation_p.P1048R	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1048					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AAACTTATGCCGCCAGGTAAG	0.388																																					Ovarian(172;1807 2695 35459 49286)	uc004dfb.2		NA																	0				lung(3)|breast(2)|ovary(1)	6						c.(3142-3144)CCG>CGG		ubiquitin specific protease 9, X-linked isoform							111.0	106.0	108.0					X																	41031206		2203	4300	6503	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41031206C>G	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.3143C>G	X.37:g.41031206C>G	ENSP00000316357:p.Pro1048Arg					USP9X_uc004dfc.2_Missense_Mutation_p.P1048R	p.P1048R	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN			21	3776	+			1048					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.3143C>G	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506265	0.85282	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.15017	2.46;2.46	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.48021	0.1477	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.54761	-0.8245	10	0.87932	D	0	.	18.2089	0.89864	0.0:1.0:0.0:0.0	.	1048;1048	Q93008-1;Q93008	.;USP9X_HUMAN	R	1048	ENSP00000367558:P1048R;ENSP00000316357:P1048R	ENSP00000316357:P1048R	P	+	2	0	USP9X	40916150	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.463000	0.80869	2.237000	0.73441	0.594000	0.82650	CCG		0.388	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		8	68	0	0	0	0	8	68				
ZNF157	7712	broad.mit.edu	37	X	47272115	47272115	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:47272115G>C	ENST00000377073.3	+	4	729	c.643G>C	c.(643-645)Gag>Cag	p.E215Q		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	215					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TCACACAGGGGAGAGGCCCTT	0.443																																						uc004dhr.1		NA																	0					0						c.(643-645)GAG>CAG		zinc finger protein 157							63.0	58.0	59.0					X																	47272115		2203	4300	6503	SO:0001583	missense	7712				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47272115G>C	U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"""Zinc fingers, C2H2-type"", ""-"""	12942	protein-coding gene	gene with protein product		300024	"""zinc finger protein 157 (HZF22)"""			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.643G>C	X.37:g.47272115G>C	ENSP00000366273:p.Glu215Gln						p.E215Q	NM_003446	NP_003437	P51786	ZN157_HUMAN			4	712	+			215					Q96LE9	Missense_Mutation	SNP	ENST00000377073.3	37	c.643G>C	CCDS14278.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.090971	0.55968	.	.	ENSG00000147117	ENST00000377073	T	0.25912	1.77	2.71	2.71	0.32032	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40719	0.1128	M	0.62154	1.92	0.27524	N	0.9513	P	0.49253	0.921	P	0.56612	0.802	T	0.16041	-1.0416	9	0.72032	D	0.01	.	10.6721	0.45764	0.0:0.0:1.0:0.0	.	215	P51786	ZN157_HUMAN	Q	215	ENSP00000366273:E215Q	ENSP00000366273:E215Q	E	+	1	0	ZNF157	47157059	1.000000	0.71417	0.876000	0.34364	0.963000	0.63663	3.252000	0.51461	1.632000	0.50472	0.594000	0.82650	GAG		0.443	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	NM_003446		13	38	0	0	0	0	13	38				
UXT	8409	broad.mit.edu	37	X	47516687	47516687	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:47516687G>A	ENST00000333119.3	-	5	306	c.251C>T	c.(250-252)cCa>cTa	p.P84L	UXT_ENST00000335890.2_Missense_Mutation_p.P96L|UXT_ENST00000460840.1_5'UTR|RP1-212G6.7_ENST00000590504.1_RNA|RP1-212G6.7_ENST00000591832.1_RNA	NM_004182.3	NP_004173.1	Q9UBK9	UXT_HUMAN	ubiquitously-expressed, prefoldin-like chaperone	84					centrosome organization (GO:0051297)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)|microtubule binding (GO:0008017)|RNA polymerase II transcription corepressor activity (GO:0001106)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						TGAAGTATCTGGGCTGAGGAA	0.478																																						uc004din.2		NA																	0					0						c.(250-252)CCA>CTA		ubiquitously-expressed transcript isoform 2							51.0	39.0	43.0					X																	47516687		2203	4300	6503	SO:0001583	missense	8409				centrosome organization|mitochondrion transport along microtubule|protein folding	centrosome|nucleus|prefoldin complex	beta-tubulin binding|microtubule binding|unfolded protein binding	g.chrX:47516687G>A	AF092737	CCDS14284.1, CCDS14285.1	Xp11.23-p11.22	2011-11-21	2011-11-21		ENSG00000126756	ENSG00000126756			12641	protein-coding gene	gene with protein product	"""androgen receptor trapped clone 27"", ""SKP2-associated alpha PFD 1"""	300234	"""ubiquitously-expressed transcript"""			10087202, 16221885	Standard	NM_004182		Approved	ART-27, STAP1	uc004dim.3	Q9UBK9	OTTHUMG00000021453	ENST00000333119.3:c.251C>T	X.37:g.47516687G>A	ENSP00000327797:p.Pro84Leu					UXT_uc004dim.2_Missense_Mutation_p.P96L|LOC100133957_uc011mls.1_5'Flank|LOC100133957_uc011mlt.1_5'Flank	p.P84L	NM_004182	NP_004173	Q9UBK9	UXT_HUMAN			5	307	-			84					B2R561|Q5JZG3|Q9Y6E5	Missense_Mutation	SNP	ENST00000333119.3	37	c.251C>T	CCDS14285.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.976252	0.53720	.	.	ENSG00000126756	ENST00000333119;ENST00000335890	T;T	0.42513	0.97;0.97	5.87	4.95	0.65309	Prefoldin (1);Prefoldin subunit (1);	0.494037	0.20688	N	0.087520	T	0.49338	0.1551	M	0.82323	2.585	0.46167	D	0.9989	P	0.35363	0.497	B	0.39503	0.301	T	0.54715	-0.8252	10	0.52906	T	0.07	0.6505	10.2558	0.43397	0.0:0.0:0.8035:0.1965	.	84	Q9UBK9	UXT_HUMAN	L	84;96	ENSP00000327797:P84L;ENSP00000337393:P96L	ENSP00000327797:P84L	P	-	2	0	UXT	47401631	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.213000	0.42844	2.469000	0.83416	0.594000	0.82650	CCA		0.478	UXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056440.1	NM_153477		6	14	0	0	0	0	6	14				
ZNF182	7569	broad.mit.edu	37	X	47836067	47836067	+	Silent	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:47836067G>C	ENST00000396965.1	-	7	1769	c.1419C>G	c.(1417-1419)ctC>ctG	p.L473L	ZNF182_ENST00000305127.6_Silent_p.L473L|ZNF182_ENST00000376943.3_Silent_p.L454L	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	473					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						GATGCAGCATGAGGTAGGACT	0.393																																						uc004dir.2		NA																	0				ovary(2)|lung(1)	3						c.(1417-1419)CTC>CTG		zinc finger protein 21 isoform 1							60.0	54.0	56.0					X																	47836067		2203	4300	6503	SO:0001819	synonymous_variant	7569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47836067G>C	AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"""Zinc fingers, C2H2-type"", ""-"""	13001	protein-coding gene	gene with protein product		314993	"""zinc finger protein 182 (HHZ150)"", ""zinc finger protein 21 (KOX 14)"""	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.1419C>G	X.37:g.47836067G>C						ZNF182_uc004dis.2_Silent_p.L454L|ZNF182_uc004dit.2_Silent_p.L473L|ZNF182_uc011mlu.1_Silent_p.L453L	p.L473L	NM_006962	NP_008893	P17025	ZN182_HUMAN			7	1765	-			473			C2H2-type 10.		A2IDD7|Q3KP67|Q96QH7	Silent	SNP	ENST00000396965.1	37	c.1419C>G	CCDS35236.1																																																																																				0.393	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962		9	59	0	0	0	0	9	59				
TBC1D25	4943	broad.mit.edu	37	X	48418232	48418232	+	Silent	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:48418232G>A	ENST00000376771.4	+	6	1277	c.936G>A	c.(934-936)cgG>cgA	p.R312R	TBC1D25_ENST00000537536.1_Silent_p.R58R|snoU13_ENST00000459609.1_RNA	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	312	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						CACATCTACGGGCGCTGCACG	0.622																																						uc004dka.1		NA																	0				ovary(1)	1						c.(934-936)CGG>CGA		TBC1 domain family, member 25							38.0	33.0	35.0					X																	48418232		2203	4300	6503	SO:0001819	synonymous_variant	4943					intracellular	Rab GTPase activator activity	g.chrX:48418232G>A	L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.936G>A	X.37:g.48418232G>A						TBC1D25_uc011mly.1_Silent_p.R254R|TBC1D25_uc004dkb.1_Silent_p.R58R|TBC1D25_uc011mlz.1_Silent_p.R58R|TBC1D25_uc011mma.1_Silent_p.R58R|TBC1D25_uc004dkc.1_Silent_p.R58R|TBC1D25_uc011mmb.1_Silent_p.R316R|TBC1D25_uc011mmc.1_Silent_p.R58R|TBC1D25_uc011mmd.1_Silent_p.R58R	p.R312R	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN			6	1047	+			312			Rab-GAP TBC.		Q08AN9|Q3MII4|Q8TAR9	Silent	SNP	ENST00000376771.4	37	c.936G>A	CCDS35242.1																																																																																				0.622	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	NM_002536		9	37	0	0	0	0	9	37				
HDAC6	10013	broad.mit.edu	37	X	48681334	48681334	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:48681334G>T	ENST00000334136.5	+	25	2703	c.2525G>T	c.(2524-2526)aGa>aTa	p.R842I	HDAC6_ENST00000376619.2_Missense_Mutation_p.R842I|HDAC6_ENST00000444343.2_Missense_Mutation_p.R856I			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	842					aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GTAGAAGACAGAGAAGGACCC	0.562																																					Pancreas(112;205 1675 2305 8976 15959)	uc011mmi.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(2524-2526)AGA>ATA		histone deacetylase 6	Vorinostat(DB02546)						53.0	44.0	47.0					X																	48681334		2203	4300	6503	SO:0001583	missense	10013				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	g.chrX:48681334G>T	AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.2525G>T	X.37:g.48681334G>T	ENSP00000334061:p.Arg842Ile					HDAC6_uc004dks.1_Missense_Mutation_p.R842I|HDAC6_uc010nig.1_Missense_Mutation_p.R690I|HDAC6_uc004dkt.1_Missense_Mutation_p.R842I|HDAC6_uc011mmk.1_Missense_Mutation_p.R823I|HDAC6_uc004dkv.1_Missense_Mutation_p.R490I|HDAC6_uc004dkw.1_Missense_Mutation_p.R490I|HDAC6_uc004dkx.1_Missense_Mutation_p.R205I	p.R842I	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN			25	2620	+			842					O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	37	c.2525G>T	CCDS14306.1	.	.	.	.	.	.	.	.	.	.	G	7.267	0.606353	0.14002	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619	T;T;T	0.60040	0.22;0.22;0.22	5.05	2.39	0.29439	.	1.843800	0.02324	N	0.073267	T	0.35451	0.0932	N	0.03608	-0.345	0.48452	D	0.999651	B;B;B;B	0.24043	0.001;0.096;0.001;0.001	B;B;B;B	0.22386	0.0;0.039;0.0;0.0	T	0.22695	-1.0209	10	0.42905	T	0.14	-9.1618	4.7423	0.13020	0.7358:0.0:0.0959:0.1683	.	832;205;490;842	B4DZN1;B3KY98;B3KVK5;Q9UBN7	.;.;.;HDAC6_HUMAN	I	856;842;842	ENSP00000398566:R856I;ENSP00000334061:R842I;ENSP00000365804:R842I	ENSP00000334061:R842I	R	+	2	0	HDAC6	48566278	0.998000	0.40836	0.068000	0.19968	0.102000	0.19082	0.387000	0.20718	0.277000	0.22141	-0.354000	0.07668	AGA		0.562	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		5	48	1	0	1.24e-05	1.52e-05	5	48				
MAGIX	79917	broad.mit.edu	37	X	49021378	49021378	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:49021378G>T	ENST00000412696.2	+	4	457	c.457G>T	c.(457-459)Gtg>Ttg	p.V153L	MAGIX_ENST00000425661.2_Intron|MAGIX_ENST00000498742.1_3'UTR|MAGIX_ENST00000376338.3_Missense_Mutation_p.V94L|MAGIX_ENST00000376339.1_Missense_Mutation_p.V94L	NM_024859.2	NP_079135.3	Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	153	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.																TCCGCTGGCCGTGCGCGGGCT	0.632																																						uc010nin.1		NA																	0					0						c.(457-459)GTG>TTG		MAGI family member, X-linked isoform a							41.0	45.0	44.0					X																	49021378		2046	4154	6200	SO:0001583	missense	79917							g.chrX:49021378G>T	AK025340	CCDS48106.1, CCDS48107.1, CCDS75976.1	Xp11.23	2014-05-06			ENSG00000017621	ENSG00000269313			30006	protein-coding gene	gene with protein product							Standard	XM_005278065		Approved	PDZX, JM10, FLJ21687	uc010nin.1	Q9H6Y5	OTTHUMG00000188218	ENST00000412696.2:c.457G>T	X.37:g.49021378G>T	ENSP00000387928:p.Val153Leu					MAGIX_uc010nio.1_Intron|MAGIX_uc004dmt.2_Intron|MAGIX_uc004dmu.2_Missense_Mutation_p.V94L|MAGIX_uc004dmw.2_Missense_Mutation_p.V86L	p.V153L	NM_024859	NP_079135	Q9H6Y5	MAGIX_HUMAN			4	504	+			153			PDZ.		A6XND4|A8MSX9|B7WP26|Q14C81	Missense_Mutation	SNP	ENST00000412696.2	37	c.457G>T	CCDS48106.1	.	.	.	.	.	.	.	.	.	.	.	16.17	3.046916	0.55110	.	.	ENSG00000017621	ENST00000376339;ENST00000412696;ENST00000376338;ENST00000425285	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	4.7	3.83	0.44106	PDZ/DHR/GLGF (4);	0.224795	0.23474	N	0.047798	T	0.64193	0.2576	M	0.80332	2.49	0.09310	N	1	D;D;D	0.63046	0.992;0.976;0.976	P;P;P	0.55222	0.771;0.569;0.569	T	0.59059	-0.7525	10	0.87932	D	0	-17.7804	8.1936	0.31383	0.1168:0.0:0.8832:0.0	.	153;94;94	Q9H6Y5;Q9H6Y5-3;Q9H6Y5-2	MAGIX_HUMAN;.;.	L	94;153;94;99	ENSP00000365517:V94L;ENSP00000387928:V153L;ENSP00000365516:V94L;ENSP00000411713:V99L	ENSP00000365516:V94L	V	+	1	0	MAGIX	48908322	0.353000	0.24904	0.008000	0.14137	0.009000	0.06853	1.564000	0.36375	1.068000	0.40764	0.529000	0.55759	GTG		0.632	MAGIX-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378832.1	NM_024859		27	96	1	0	6.33e-13	8.92e-13	27	96				
CACNA1F	778	broad.mit.edu	37	X	49065125	49065125	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:49065125G>T	ENST00000376265.2	-	43	5067	c.5006C>A	c.(5005-5007)cCc>cAc	p.P1669H	CACNA1F_ENST00000376251.1_Missense_Mutation_p.P1604H|CACNA1F_ENST00000323022.5_Missense_Mutation_p.P1658H	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1669					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GCGAGCTGAGGGCTGGGAGAC	0.562																																						uc004dnb.2		NA																	0				breast(3)|ovary(1)|kidney(1)|skin(1)	6						c.(5005-5007)CCC>CAC		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						56.0	52.0	53.0					X																	49065125		2203	4300	6503	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49065125G>T	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.5006C>A	X.37:g.49065125G>T	ENSP00000365441:p.Pro1669His					CACNA1F_uc010nip.2_Missense_Mutation_p.P1658H	p.P1669H	NM_005183	NP_005174	O60840	CAC1F_HUMAN			43	5068	-			1669			Cytoplasmic (Potential).		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.5006C>A	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	G	8.183	0.794178	0.16327	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.96265	-3.96;-3.89;-3.89	5.01	5.01	0.66863	.	4.310420	0.00508	N	0.000176	D	0.95887	0.8661	L	0.43152	1.355	0.28184	N	0.928032	D;D	0.58268	0.982;0.976	P;P	0.50659	0.646;0.647	D	0.86500	0.1803	10	0.10902	T	0.67	.	13.1307	0.59380	0.0:0.0:1.0:0.0	.	1658;1669	F5CIQ9;O60840	.;CAC1F_HUMAN	H	1604;1658;1669	ENSP00000365427:P1604H;ENSP00000321618:P1658H;ENSP00000365441:P1669H	ENSP00000321618:P1658H	P	-	2	0	CACNA1F	48952069	1.000000	0.71417	0.959000	0.39883	0.005000	0.04900	3.984000	0.56923	2.403000	0.81681	0.600000	0.82982	CCC		0.562	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		12	65	1	0	4.37e-10	5.96e-10	12	65				
AKAP4	8852	broad.mit.edu	37	X	49961630	49961630	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:49961630G>C	ENST00000376056.2	-	4	311	c.161C>G	c.(160-162)tCc>tGc	p.S54C	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Missense_Mutation_p.S63C|AKAP4_ENST00000376058.2_Missense_Mutation_p.S54C|AKAP4_ENST00000376064.3_Missense_Mutation_p.S54C					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TTCTGAGCTGGAACTAGCAGC	0.418																																						uc004dow.1		NA																	0				kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8						c.(187-189)TCC>TGC		A-kinase anchor protein 4 isoform 1							156.0	130.0	139.0					X																	49961630		2203	4300	6503	SO:0001583	missense	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49961630G>C	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.161C>G	X.37:g.49961630G>C	ENSP00000365224:p.Ser54Cys					AKAP4_uc004dov.1_Missense_Mutation_p.S54C|AKAP4_uc010njp.1_5'UTR|AKAP4_uc004dou.1_Missense_Mutation_p.S54C	p.S63C	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN			4	312	-	Ovarian(276;0.236)		63						Missense_Mutation	SNP	ENST00000376056.2	37	c.188C>G	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	G	1.268	-0.613979	0.03690	.	.	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064;ENST00000448865;ENST00000437370	T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44	4.43	2.59	0.31030	.	0.852922	0.09999	N	0.728663	T	0.22360	0.0539	L	0.31294	0.92	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.08055	0.002;0.003	T	0.27400	-1.0075	9	.	.	.	1.2457	10.3628	0.44006	0.0:0.3777:0.6223:0.0	.	63;54	Q5JQC9;A6ND82	AKAP4_HUMAN;.	C	54;54;63;54;54;54	ENSP00000365224:S54C;ENSP00000365226:S54C;ENSP00000351327:S63C;ENSP00000365232:S54C;ENSP00000402403:S54C;ENSP00000412279:S54C	.	S	-	2	0	AKAP4	49848370	0.980000	0.34600	0.006000	0.13384	0.030000	0.12068	1.951000	0.40333	0.273000	0.22049	0.436000	0.28706	TCC		0.418	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		15	63	0	0	0	0	15	63				
SHROOM4	57477	broad.mit.edu	37	X	50376870	50376870	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:50376870G>C	ENST00000289292.7	-	4	2486	c.2203C>G	c.(2203-2205)Cag>Gag	p.Q735E	SHROOM4_ENST00000376020.2_Missense_Mutation_p.Q735E|SHROOM4_ENST00000460112.3_Missense_Mutation_p.Q619E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	735					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)	p.Q735*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ACAAGTGGCTGTGAATTATGC	0.542																																						uc004dpe.2		NA																	1	Substitution - Nonsense(1)		endometrium(1)	upper_aerodigestive_tract(1)	1						c.(2203-2205)CAG>GAG		shroom family member 4							47.0	39.0	41.0					X																	50376870		2203	4300	6503	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50376870G>C	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.2203C>G	X.37:g.50376870G>C	ENSP00000289292:p.Gln735Glu					SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Missense_Mutation_p.Q619E	p.Q735E	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN			4	2229	-	Ovarian(276;0.236)		735					A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.2203C>G	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	G	3.344	-0.134008	0.06711	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	D;D;D	0.87887	-2.31;-2.31;-2.31	5.74	4.87	0.63330	.	0.072504	0.56097	D	0.000027	T	0.73265	0.3565	N	0.20986	0.625	0.31342	N	0.683492	P	0.39282	0.666	B	0.27380	0.079	T	0.74887	-0.3511	10	0.45353	T	0.12	.	7.8264	0.29318	0.0838:0.0:0.753:0.1632	.	735	Q9ULL8	SHRM4_HUMAN	E	735;735;619	ENSP00000289292:Q735E;ENSP00000365188:Q735E;ENSP00000421450:Q619E	ENSP00000289292:Q735E	Q	-	1	0	SHROOM4	50393610	0.997000	0.39634	0.651000	0.29564	0.421000	0.31385	2.638000	0.46562	1.162000	0.42619	0.600000	0.82982	CAG		0.542	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		14	54	0	0	0	0	14	54				
GNL3L	54552	broad.mit.edu	37	X	54577458	54577458	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:54577458G>T	ENST00000336470.4	+	10	977	c.838G>T	c.(838-840)Gtg>Ttg	p.V280L	GNL3L_ENST00000360845.2_Missense_Mutation_p.V280L	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	280	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						CGCATGCAGCGTGGGAGCTGT	0.557																																						uc004dth.1		NA																	0				ovary(1)	1						c.(838-840)GTG>TTG		guanine nucleotide binding protein-like 3							104.0	83.0	90.0					X																	54577458		2203	4300	6503	SO:0001583	missense	54552				ribosome biogenesis	nucleolus	GTP binding	g.chrX:54577458G>T	AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.838G>T	X.37:g.54577458G>T	ENSP00000338573:p.Val280Leu					GNL3L_uc004dti.2_RNA	p.V280L	NM_019067	NP_061940	Q9NVN8	GNL3L_HUMAN			10	977	+			280			G.			Missense_Mutation	SNP	ENST00000336470.4	37	c.838G>T	CCDS14360.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493249	0.84962	.	.	ENSG00000130119	ENST00000336470;ENST00000360845	T;T	0.24151	1.87;1.87	4.63	4.63	0.57726	GTP-binding domain, HSR1-related (1);	0.000000	0.85682	D	0.000000	T	0.57636	0.2067	M	0.89030	3	0.80722	D	1	D	0.67145	0.996	D	0.76575	0.988	T	0.67883	-0.5555	10	0.87932	D	0	-10.5393	15.9996	0.80285	0.0:0.0:1.0:0.0	.	280	Q9NVN8	GNL3L_HUMAN	L	280	ENSP00000338573:V280L;ENSP00000354091:V280L	ENSP00000338573:V280L	V	+	1	0	GNL3L	54594183	1.000000	0.71417	0.956000	0.39512	0.700000	0.40528	9.005000	0.93587	2.227000	0.72691	0.436000	0.28706	GTG		0.557	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1	NM_019067		7	44	1	0	5.18e-06	6.43e-06	7	44				
USP51	158880	broad.mit.edu	37	X	55513447	55513447	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:55513447A>T	ENST00000500968.3	-	2	2008	c.1926T>A	c.(1924-1926)tgT>tgA	p.C642*	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	642	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						CATTGGGCACACAATCTGTTG	0.443																																						uc004dun.1		NA																	0				ovary(1)|lung(1)|breast(1)	3						c.(1924-1926)TGT>TGA		ubiquitin specific protease 51							108.0	95.0	100.0					X																	55513447		2203	4300	6503	SO:0001587	stop_gained	158880				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chrX:55513447A>T	BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.1926T>A	X.37:g.55513447A>T	ENSP00000423333:p.Cys642*					USP51_uc011moo.1_Nonsense_Mutation_p.C346*	p.C642*	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN			2	2005	-			642					Q8IWJ8	Nonsense_Mutation	SNP	ENST00000500968.3	37	c.1926T>A	CCDS14370.1	.	.	.	.	.	.	.	.	.	.	.	28.4	4.920881	0.92249	.	.	ENSG00000247746	ENST00000500968	.	.	.	2.96	2.96	0.34315	.	0.488808	0.20647	U	0.088295	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	6.8306	0.23907	1.0:0.0:0.0:0.0	.	.	.	.	X	642	.	ENSP00000423333:C642X	C	-	3	2	USP51	55530172	0.405000	0.25336	0.004000	0.12327	0.674000	0.39518	2.476000	0.45171	1.416000	0.47057	0.371000	0.22339	TGT		0.443	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286		3	32	0	0	0	0	3	32				
RRAGB	10325	broad.mit.edu	37	X	55784705	55784705	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:55784705C>A	ENST00000262850.7	+	11	1497	c.1054C>A	c.(1054-1056)Cgc>Agc	p.R352S	RRAGB_ENST00000374941.4_Missense_Mutation_p.R324S	NM_016656.3	NP_057740.2			Ras-related GTP binding B											breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						GATCAACATCCGCAATGCCAG	0.443																																						uc004dup.2		NA																	0					0						c.(1054-1056)CGC>AGC		Ras-related GTP binding B long isoform							75.0	62.0	66.0					X																	55784705		2203	4299	6502	SO:0001583	missense	10325				cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding	g.chrX:55784705C>A	X90530	CCDS14371.1, CCDS14372.1	Xp11.21	2008-02-05			ENSG00000083750	ENSG00000083750			19901	protein-coding gene	gene with protein product		300725				7499430, 9394008	Standard	NM_006064		Approved		uc004dup.3	Q5VZM2	OTTHUMG00000021662	ENST00000262850.7:c.1054C>A	X.37:g.55784705C>A	ENSP00000262850:p.Arg352Ser					RRAGB_uc004duq.2_Missense_Mutation_p.R324S	p.R352S	NM_016656	NP_057740	Q5VZM2	RRAGB_HUMAN			11	1705	+			352						Missense_Mutation	SNP	ENST00000262850.7	37	c.1054C>A	CCDS14372.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.249127	0.39797	.	.	ENSG00000083750	ENST00000374941;ENST00000262850	T	0.63255	-0.03	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.58337	0.2115	M	0.63843	1.955	0.80722	D	1	B;B	0.27594	0.182;0.116	B;B	0.18263	0.021;0.018	T	0.61113	-0.7128	10	0.49607	T	0.09	-4.991	14.4258	0.67215	0.0:1.0:0.0:0.0	.	324;352	Q5VZM2-2;Q5VZM2	.;RRAGB_HUMAN	S	324;352	ENSP00000364077:R324S	ENSP00000262850:R352S	R	+	1	0	RRAGB	55801430	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	5.146000	0.64845	2.202000	0.70862	0.529000	0.55759	CGC		0.443	RRAGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056878.1	NM_016656		9	38	1	0	0.000442599	0.000507443	9	38				
HEPH	9843	broad.mit.edu	37	X	65486459	65486459	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:65486459G>T	ENST00000343002.2	+	20	4086	c.3422G>T	c.(3421-3423)cGc>cTc	p.R1141L	HEPH_ENST00000519389.1_Missense_Mutation_p.R1195L|HEPH_ENST00000441993.2_Missense_Mutation_p.R1143L|HEPH_ENST00000419594.1_Missense_Mutation_p.R952L|HEPH_ENST00000374727.3_Missense_Mutation_p.R1144L|HEPH_ENST00000336279.5_Missense_Mutation_p.R874L			Q9BQS7	HEPH_HUMAN	hephaestin	1141					cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AAGCTACGACGCAATAGGAGG	0.493																																						uc011moz.1		NA																	0				lung(5)|ovary(4)	9						c.(3430-3432)CGC>CTC		hephaestin isoform a							228.0	157.0	181.0					X																	65486459		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65486459G>T	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.3422G>T	X.37:g.65486459G>T	ENSP00000343939:p.Arg1141Leu					HEPH_uc004dwn.2_Missense_Mutation_p.R1143L|HEPH_uc004dwo.2_Missense_Mutation_p.R874L|HEPH_uc010nkr.2_Missense_Mutation_p.R952L|HEPH_uc011mpa.1_Missense_Mutation_p.R1144L	p.R1144L	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			21	3491	+			1141			Cytoplasmic (Potential).		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.3431G>T		.	.	.	.	.	.	.	.	.	.	.	16.60	3.169031	0.57584	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002	D;D;D;D;D;D	0.99292	-5.7;-5.67;-5.66;-5.66;-5.7;-5.66	5.6	5.6	0.85130	.	0.113219	0.40385	N	0.001118	D	0.97077	0.9045	N	0.19112	0.55	0.37495	D	0.916531	B;B;B	0.28208	0.083;0.203;0.059	B;B;B	0.26202	0.018;0.067;0.023	D	0.97355	0.9966	10	0.56958	D	0.05	.	15.2239	0.73336	0.0:0.0:1.0:0.0	.	1195;952;1141	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	L	1195;1144;874;1143;952;1141	ENSP00000430620:R1195L;ENSP00000363859:R1144L;ENSP00000337418:R874L;ENSP00000411687:R1143L;ENSP00000413211:R952L;ENSP00000343939:R1141L	ENSP00000337418:R874L	R	+	2	0	HEPH	65403184	1.000000	0.71417	0.984000	0.44739	0.804000	0.45430	4.017000	0.57167	2.354000	0.79902	0.600000	0.82982	CGC		0.493	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		16	46	1	0	4.15e-12	5.79e-12	16	46				
STARD8	9754	broad.mit.edu	37	X	67942409	67942409	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:67942409T>C	ENST00000252336.6	+	11	2852	c.2480T>C	c.(2479-2481)cTg>cCg	p.L827P	STARD8_ENST00000374599.3_Missense_Mutation_p.L907P|STARD8_ENST00000374597.3_Missense_Mutation_p.L827P	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	827	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						ATCCAGGACCTGCTGCGTGAT	0.647																																						uc004dxa.2		NA																	0				breast(3)|ovary(2)|pancreas(1)	6						c.(2479-2481)CTG>CCG		StAR-related lipid transfer (START) domain							63.0	52.0	55.0					X																	67942409		2203	4300	6503	SO:0001583	missense	9754				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	g.chrX:67942409T>C	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.2480T>C	X.37:g.67942409T>C	ENSP00000252336:p.Leu827Pro					STARD8_uc004dxb.2_Missense_Mutation_p.L907P|STARD8_uc004dxc.3_Missense_Mutation_p.L827P	p.L827P	NM_014725	NP_055540	Q92502	STAR8_HUMAN			11	2852	+			827			START.		A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	37	c.2480T>C	CCDS14390.1	.	.	.	.	.	.	.	.	.	.	t	18.49	3.635213	0.67130	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.81330	-1.48;-1.48;-1.48	4.34	4.34	0.51931	Lipid-binding START (3);START-like domain (1);	0.000000	0.56097	D	0.000023	D	0.89931	0.6858	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.85130	0.951;0.997	D	0.90925	0.4786	10	0.72032	D	0.01	.	10.5225	0.44927	0.0:0.0:0.0:1.0	.	907;827	Q92502-2;Q92502	.;STAR8_HUMAN	P	827;907;827	ENSP00000252336:L827P;ENSP00000363727:L907P;ENSP00000363725:L827P	ENSP00000252336:L827P	L	+	2	0	STARD8	67859134	1.000000	0.71417	0.952000	0.39060	0.751000	0.42716	6.901000	0.75693	1.604000	0.50143	0.409000	0.27619	CTG		0.647	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		9	39	0	0	0	0	9	39				
SNX12	29934	broad.mit.edu	37	X	70282792	70282792	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:70282792A>T	ENST00000374274.3	-	2	289	c.173T>A	c.(172-174)cTa>cAa	p.L58Q	SNX12_ENST00000465030.1_5'UTR|SNX12_ENST00000276105.3_Missense_Mutation_p.L54Q	NM_001256185.1|NM_001256188.1|NM_013346.3	NP_001243114.1|NP_001243117.1|NP_037478.2	Q9UMY4	SNX12_HUMAN	sorting nexin 12	58	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)|negative regulation of early endosome to late endosome transport (GO:2000642)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of protein transport (GO:0051224)|regulation of endocytosis (GO:0030100)	early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	Renal(35;0.156)					GAAGATAGGTAGGTTTGTCTA	0.453																																						uc004dyr.1		NA																	0					0						c.(172-174)CTA>CAA		sorting nexin 12							68.0	55.0	60.0					X																	70282792		2203	4300	6503	SO:0001583	missense	29934				cell communication|protein transport	membrane	phosphatidylinositol binding|protein binding	g.chrX:70282792A>T	AF171229	CCDS14405.1, CCDS59169.1	Xq13.1	2008-03-11			ENSG00000147164	ENSG00000147164		"""Sorting nexins"""	14976	protein-coding gene	gene with protein product		300883					Standard	NM_013346		Approved		uc004dyr.2	Q9UMY4	OTTHUMG00000021786	ENST00000374274.3:c.173T>A	X.37:g.70282792A>T	ENSP00000363392:p.Leu58Gln					SNX12_uc004dyp.1_RNA|uc004dyq.2_5'Flank	p.L58Q	NM_013346	NP_037478	Q9UMY4	SNX12_HUMAN			2	248	-	Renal(35;0.156)		58			PX.		F8W8K5|Q8WUG9	Missense_Mutation	SNP	ENST00000374274.3	37	c.173T>A	CCDS14405.1	.	.	.	.	.	.	.	.	.	.	a	19.82	3.898051	0.72639	.	.	ENSG00000147164	ENST00000374274;ENST00000276105	T;T	0.44482	1.08;0.92	4.88	3.72	0.42706	.	0.000000	0.85682	D	0.000000	T	0.65080	0.2657	M	0.87971	2.92	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	T	0.67138	-0.5746	10	0.87932	D	0	-8.1123	8.8046	0.34929	0.9109:0.0:0.0891:0.0	.	58	Q3SYF1	.	Q	58;54	ENSP00000363392:L58Q;ENSP00000276105:L54Q	ENSP00000276105:L54Q	L	-	2	0	SNX12	70199517	1.000000	0.71417	0.995000	0.50966	0.974000	0.67602	9.056000	0.93881	0.706000	0.31912	0.483000	0.47432	CTA		0.453	SNX12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057094.1	NM_013346		5	21	0	0	0	0	5	21				
MED12	9968	broad.mit.edu	37	X	70338650	70338650	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:70338650C>G	ENST00000374080.3	+	1	78	c.46C>G	c.(46-48)Cgg>Ggg	p.R16G	MED12_ENST00000374102.1_Missense_Mutation_p.R16G|MED12_ENST00000333646.6_Missense_Mutation_p.R16G			Q93074	MED12_HUMAN	mediator complex subunit 12	16				R -> RPR (in Ref. 1; AAD22033). {ECO:0000305}.	androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GCCCCTGAAGCGGCCGCGGCT	0.682			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															uc004dyy.2		NA		Dom	yes		X	Xq13	9968		mediator complex subunit 12	Yes		M					0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(46-48)CGG>GGG		mediator complex subunit 12							12.0	14.0	13.0					X																	70338650		1799	4032	5831	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70338650C>G	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.46C>G	X.37:g.70338650C>G	ENSP00000363193:p.Arg16Gly					MED12_uc011mpq.1_Missense_Mutation_p.R16G|MED12_uc004dyz.2_Missense_Mutation_p.R16G|MED12_uc004dza.2_5'Flank	p.R16G	NM_005120	NP_005111	Q93074	MED12_HUMAN			1	245	+	Renal(35;0.156)		16	R -> RPR (in Ref. 1; AAD22033).				O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.46C>G	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	21.1	4.090846	0.76756	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080	T;T;T	0.59638	0.25;0.25;0.25	4.13	3.23	0.37069	.	0.000000	0.64402	D	0.000008	T	0.70640	0.3247	M	0.64404	1.975	0.52099	D	0.999948	P;D;P	0.76494	0.869;0.999;0.794	P;D;P	0.83275	0.772;0.996;0.597	T	0.72134	-0.4382	10	0.87932	D	0	-21.4443	11.1475	0.48438	0.3335:0.6665:0.0:0.0	.	16;16;16	F5H3Y1;Q93074-3;Q93074	.;.;MED12_HUMAN	G	16	ENSP00000333125:R16G;ENSP00000363215:R16G;ENSP00000363193:R16G	ENSP00000333125:R16G	R	+	1	2	MED12	70255375	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.740000	0.55082	0.813000	0.34350	0.431000	0.28591	CGG		0.682	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		4	26	0	0	0	0	4	26				
ITGB1BP2	26548	broad.mit.edu	37	X	70523356	70523356	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:70523356G>A	ENST00000373829.3	+	6	531	c.458G>A	c.(457-459)gGa>gAa	p.G153E	ITGB1BP2_ENST00000538820.1_Missense_Mutation_p.G135E	NM_012278.1	NP_036410.1	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	153	CHORD 2. {ECO:0000255|PROSITE- ProRule:PRU00734}.|Cys-rich.				muscle organ development (GO:0007517)|signal transduction (GO:0007165)	Z disc (GO:0030018)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					CAGAACCCAGGATGTGATGCT	0.512																																						uc004dzr.1		NA																	0				ovary(1)	1						c.(457-459)GGA>GAA		integrin beta 1 binding protein 2							126.0	113.0	117.0					X																	70523356		2203	4300	6503	SO:0001583	missense	26548				muscle organ development|signal transduction		SH3 domain binding	g.chrX:70523356G>A	AF140690	CCDS14411.1	Xq12.1-q13	2008-02-05			ENSG00000147166	ENSG00000147166			6154	protein-coding gene	gene with protein product		300332				10506186	Standard	XM_005262255		Approved	CHORDC3	uc004dzr.1	Q9UKP3	OTTHUMG00000021793	ENST00000373829.3:c.458G>A	X.37:g.70523356G>A	ENSP00000362935:p.Gly153Glu					BCYRN1_uc011mpt.1_Intron|ITGB1BP2_uc004dzs.1_Missense_Mutation_p.G135E	p.G153E	NM_012278	NP_036410	Q9UKP3	ITBP2_HUMAN			6	487	+	Renal(35;0.156)		153			Cys-rich.|CHORD 2.		Q32N04|Q549J7	Missense_Mutation	SNP	ENST00000373829.3	37	c.458G>A	CCDS14411.1	.	.	.	.	.	.	.	.	.	.	g	15.92	2.974784	0.53720	.	.	ENSG00000147166	ENST00000373829;ENST00000538820	.	.	.	4.63	3.76	0.43208	Cysteine/histidine-rich domain (2);	0.165681	0.52532	D	0.000073	T	0.82029	0.4948	H	0.94847	3.59	0.58432	D	0.999998	D;D	0.76494	0.986;0.999	P;D	0.71656	0.77;0.974	D	0.84169	0.0433	9	0.87932	D	0	-2.9444	9.4752	0.38867	0.0:0.2103:0.7897:0.0	.	135;153	Q32N04;Q9UKP3	.;ITBP2_HUMAN	E	153;135	.	ENSP00000362935:G153E	G	+	2	0	ITGB1BP2	70440081	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.036000	0.49767	0.925000	0.37094	0.600000	0.82982	GGA		0.512	ITGB1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057126.1	NM_012278		19	89	0	0	0	0	19	89				
TAF1	6872	broad.mit.edu	37	X	70614023	70614023	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:70614023A>G	ENST00000373790.4	+	22	3382	c.3331A>G	c.(3331-3333)Aag>Gag	p.K1111E	TAF1_ENST00000276072.3_Missense_Mutation_p.K1132E|TAF1_ENST00000449580.1_Missense_Mutation_p.K1111E|TAF1_ENST00000423759.1_Missense_Mutation_p.K1132E	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1111					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GTTGCAGAACAAGAAAACCAG	0.458																																						uc004dzu.3		NA																	0				ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17						c.(3331-3333)AAG>GAG		TBP-associated factor 1 isoform 2							125.0	98.0	107.0					X																	70614023		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70614023A>G		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.3331A>G	X.37:g.70614023A>G	ENSP00000362895:p.Lys1111Glu					BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.K1132E|TAF1_uc004dzv.3_Missense_Mutation_p.K285E	p.K1111E	NM_138923	NP_620278	P21675	TAF1_HUMAN			22	3382	+	Renal(35;0.156)	all_lung(315;0.000321)	1111					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.3331A>G	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	26.2	4.710991	0.89112	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.39784	0.1091	L	0.46885	1.475	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.79784	0.99;0.978;0.993	T	0.22977	-1.0201	10	0.87932	D	0	.	14.2543	0.66040	1.0:0.0:0.0:0.0	.	1111;1111;1132	P21675-4;P21675;P21675-2	.;TAF1_HUMAN;.	E	1111;1111;1132;1132	ENSP00000362895:K1111E;ENSP00000389000:K1111E;ENSP00000406549:K1132E;ENSP00000276072:K1132E	ENSP00000276072:K1132E	K	+	1	0	TAF1	70530748	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.954000	0.93051	1.744000	0.51775	0.430000	0.28490	AAG		0.458	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		13	51	0	0	0	0	13	51				
CDX4	1046	broad.mit.edu	37	X	72667341	72667341	+	Silent	SNP	C	C	T	rs146093321		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:72667341C>T	ENST00000373514.2	+	1	252	c.252C>T	c.(250-252)agC>agT	p.S84S		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	84					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	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)			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					AAGACTGGAGCGTGTATCCTG	0.607													C|||	1	0.000264901	0.0008	0.0	3775	,	,		11315	0.0		0.0	False		,,,				2504	0.0					uc011mqk.1		NA																	0					0						c.(250-252)AGC>AGT		caudal type homeobox 4							58.0	47.0	51.0					X																	72667341		2203	4300	6503	SO:0001819	synonymous_variant	1046					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:72667341C>T	AF029879	CCDS14424.1	Xq13.2	2012-03-09	2007-07-09		ENSG00000131264	ENSG00000131264		"""Homeoboxes / ANTP class : HOXL subclass"""	1808	protein-coding gene	gene with protein product		300025	"""caudal type homeo box transcription factor 4"""			7655457	Standard	NM_005193		Approved		uc011mqk.2	O14627	OTTHUMG00000021831	ENST00000373514.2:c.252C>T	X.37:g.72667341C>T							p.S84S	NM_005193	NP_005184	O14627	CDX4_HUMAN			1	252	+	Renal(35;0.156)		84					A1A513|Q5JS20	Silent	SNP	ENST00000373514.2	37	c.252C>T	CCDS14424.1																																																																																				0.607	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057229.2	NM_005193		8	57	0	0	0	0	8	57				
KIAA2022	340533	broad.mit.edu	37	X	73962135	73962135	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:73962135G>T	ENST00000055682.6	-	3	2868	c.2257C>A	c.(2257-2259)Caa>Aaa	p.Q753K		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	753					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTGAGGATTGGTTTTCCAAG	0.388																																						uc004eby.2		NA																	0				ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(2257-2259)CAA>AAA		hypothetical protein LOC340533							70.0	69.0	69.0					X																	73962135		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73962135G>T		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.2257C>A	X.37:g.73962135G>T	ENSP00000055682:p.Gln753Lys						p.Q753K	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			3	2874	-			753					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.2257C>A	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	G	1.343	-0.593631	0.03771	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.30714	1.52;1.52	5.08	0.867	0.19085	.	0.859156	0.10569	N	0.659347	T	0.22781	0.0550	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.29366	-1.0014	10	0.21540	T	0.41	1.8076	10.3399	0.43870	0.0:0.116:0.4484:0.4355	.	753	Q5QGS0	K2022_HUMAN	K	753	ENSP00000362567:Q753K;ENSP00000055682:Q753K	ENSP00000055682:Q753K	Q	-	1	0	KIAA2022	73878860	1.000000	0.71417	0.000000	0.03702	0.255000	0.26057	2.724000	0.47285	-0.180000	0.10637	0.513000	0.50165	CAA		0.388	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		14	80	1	0	4.38e-07	5.58e-07	14	80				
ABCB7	22	broad.mit.edu	37	X	74282246	74282246	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:74282246C>T	ENST00000373394.3	-	14	1859	c.1852G>A	c.(1852-1854)Gca>Aca	p.A618T	ABCB7_ENST00000534570.1_5'Flank|ABCB7_ENST00000253577.3_Missense_Mutation_p.A619T|ABCB7_ENST00000339447.4_Missense_Mutation_p.A578T			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	618	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						CTTGCAATTGCTACTCTTTGC	0.353																																						uc004eca.2		NA																	0				ovary(1)	1						c.(1852-1854)GCA>ACA		ATP-binding cassette, sub-family B, member 7							100.0	89.0	93.0					X																	74282246		2203	4300	6503	SO:0001583	missense	22				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	g.chrX:74282246C>T	AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"""ATP binding cassette transporters / subfamily B"""	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.1852G>A	X.37:g.74282246C>T	ENSP00000362492:p.Ala618Thr					ABCB7_uc004ebz.2_Missense_Mutation_p.A619T|ABCB7_uc011mqn.1_Missense_Mutation_p.A592T|ABCB7_uc010nls.2_Missense_Mutation_p.A579T|ABCB7_uc010nlt.2_Missense_Mutation_p.A578T	p.A618T	NM_004299	NP_004290	O75027	ABCB7_HUMAN			14	1877	-			618			ABC transporter.		G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Missense_Mutation	SNP	ENST00000373394.3	37	c.1852G>A		.	.	.	.	.	.	.	.	.	.	C	28.7	4.944343	0.92593	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949	D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94	5.32	5.32	0.75619	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.93252	0.7850	M	0.86573	2.825	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0	D;D;D;D;D	0.80764	0.989;0.99;0.994;0.994;0.99	D	0.94427	0.7646	10	0.87932	D	0	-24.0152	16.9284	0.86183	0.0:1.0:0.0:0.0	.	592;578;619;618;619	G3V1J3;G3XAC4;B3KM98;O75027;O75027-2	.;.;.;ABCB7_HUMAN;.	T	592;619;578;618;592	ENSP00000253577:A619T;ENSP00000343849:A578T;ENSP00000362492:A618T;ENSP00000436586:A592T	ENSP00000253577:A619T	A	-	1	0	ABCB7	74198971	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.372000	0.79612	2.204000	0.70986	0.594000	0.82650	GCA		0.353	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299		8	49	0	0	0	0	8	49				
UPRT	139596	broad.mit.edu	37	X	74494242	74494242	+	Silent	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:74494242C>A	ENST00000373383.4	+	1	320	c.153C>A	c.(151-153)ctC>ctA	p.L51L	UPRT_ENST00000373379.1_Silent_p.L51L|UPRT_ENST00000530743.1_5'Flank|UPRT_ENST00000531704.1_3'UTR	NM_145052.3	NP_659489.1	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	51					female pregnancy (GO:0007565)|lactation (GO:0007595)|response to insulin (GO:0032868)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						AGGTGATTCTCCTCACGGGGT	0.632																																						uc004ecb.1		NA																	0					0						c.(151-153)CTC>CTA		uracil phosphoribosyltransferase (FUR1) homolog							39.0	35.0	36.0					X																	74494242		2203	4300	6503	SO:0001819	synonymous_variant	139596				nucleoside metabolic process	cytoplasm|nucleus		g.chrX:74494242C>A	BC015116	CCDS14429.1	Xq13.3	2009-01-14			ENSG00000094841	ENSG00000094841			28334	protein-coding gene	gene with protein product		300656				12477932	Standard	NM_145052		Approved	DKFZp781E1243, MGC23937, FUR1, RP11-311P8.3	uc004ecb.2	Q96BW1	OTTHUMG00000021864	ENST00000373383.4:c.153C>A	X.37:g.74494242C>A						UPRT_uc010nlu.1_Silent_p.L51L|UPRT_uc004ecc.1_RNA|UPRT_uc004ecd.1_Silent_p.L51L|UPRT_uc004ece.1_5'Flank	p.L51L	NM_145052	NP_659489	Q96BW1	UPP_HUMAN			1	282	+			51					Q5JRL1|Q5JRL3|Q68DN0|Q96MW2	Silent	SNP	ENST00000373383.4	37	c.153C>A	CCDS14429.1																																																																																				0.632	UPRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057278.1	NM_145052		6	32	1	0	5.94e-07	7.52e-07	6	32				
MAGEE1	57692	broad.mit.edu	37	X	75650773	75650773	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:75650773G>T	ENST00000361470.2	+	1	2728	c.2450G>T	c.(2449-2451)cGa>cTa	p.R817L		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	817	Interaction with DTNA. {ECO:0000250}.|MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CTGTACAACCGAAGGGAGATG	0.488																																						uc004ecm.1		NA																	0				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						c.(2449-2451)CGA>CTA		melanoma antigen family E, 1							64.0	54.0	57.0					X																	75650773		2203	4300	6503	SO:0001583	missense	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75650773G>T	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.2450G>T	X.37:g.75650773G>T	ENSP00000354912:p.Arg817Leu						p.R817L	NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN			1	2657	+			817			Interaction with DTNA (By similarity).|MAGE 2.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	c.2450G>T	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	.	12.60	1.986209	0.35036	.	.	ENSG00000198934	ENST00000361470	T	0.04454	3.62	2.52	1.5	0.22942	.	.	.	.	.	T	0.06416	0.0165	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.75484	0.986	T	0.37957	-0.9683	9	0.56958	D	0.05	.	3.877	0.09061	0.2728:0.0:0.7272:0.0	.	817	Q9HCI5	MAGE1_HUMAN	L	817	ENSP00000354912:R817L	ENSP00000354912:R817L	R	+	2	0	MAGEE1	75567177	0.999000	0.42202	0.174000	0.22961	0.909000	0.53808	1.051000	0.30417	0.365000	0.24400	0.600000	0.82982	CGA		0.488	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		10	52	1	0	6.4e-05	7.66e-05	10	52				
ATRX	546	broad.mit.edu	37	X	76944409	76944409	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:76944409G>T	ENST00000373344.5	-	7	710	c.496C>A	c.(496-498)Cat>Aat	p.H166N	ATRX_ENST00000395603.3_Missense_Mutation_p.H128N|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	166	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.H166fs*4(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ACAATCCCATGAAGCCCATCT	0.358			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.3		NA		Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		2	Unknown(1)|Deletion - Frameshift(1)		central_nervous_system(1)|bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(496-498)CAT>AAT		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						134.0	122.0	126.0					X																	76944409		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76944409G>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.496C>A	X.37:g.76944409G>T	ENSP00000362441:p.His166Asn					ATRX_uc004ecq.3_Missense_Mutation_p.H128N|ATRX_uc004eco.3_5'UTR|ATRX_uc004ecr.2_Missense_Mutation_p.H127N|ATRX_uc010nlx.1_Missense_Mutation_p.H166N|ATRX_uc010nly.1_Missense_Mutation_p.H111N	p.H166N	NM_000489	NP_000480	P46100	ATRX_HUMAN			7	728	-			166			ADD.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.496C>A	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414572	0.62511	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.99194	-5.54;-2.98	5.49	5.49	0.81192	.	0.073629	0.56097	D	0.000035	D	0.98311	0.9440	N	0.14661	0.345	0.80722	D	1	P;D;D;P	0.65815	0.938;0.995;0.963;0.951	D;D;D;D	0.87578	0.973;0.998;0.988;0.98	D	0.99884	1.1118	10	0.36615	T	0.2	-12.1776	18.4267	0.90611	0.0:0.0:1.0:0.0	.	166;127;128;166	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	N	166;128;122	ENSP00000362441:H166N;ENSP00000378967:H128N	ENSP00000362441:H166N	H	-	1	0	ATRX	76831065	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.528000	0.81941	2.292000	0.77174	0.594000	0.82650	CAT		0.358	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		12	98	1	0	1.58e-08	2.1e-08	12	98				
PCDH11X	27328	broad.mit.edu	37	X	91090898	91090898	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:91090898T>C	ENST00000373094.1	+	1	1240	c.395T>C	c.(394-396)aTa>aCa	p.I132T	PCDH11X_ENST00000395337.2_Missense_Mutation_p.I132T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.I132T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.I132T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.I132T|PCDH11X_ENST00000504220.2_Missense_Mutation_p.I132T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.I132T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.I132T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.I132T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	132	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATAGAAGATATAAATGATAAT	0.388																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	0				large_intestine(2)	2						c.(394-396)ATA>ACA		protocadherin 11 X-linked isoform c							34.0	33.0	33.0					X																	91090898		2197	4272	6469	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090898T>C	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.395T>C	X.37:g.91090898T>C	ENSP00000362186:p.Ile132Thr					PCDH11X_uc004efl.1_Missense_Mutation_p.I132T|PCDH11X_uc004efo.1_Missense_Mutation_p.I132T|PCDH11X_uc010nmv.1_Missense_Mutation_p.I132T|PCDH11X_uc004efm.1_Missense_Mutation_p.I132T|PCDH11X_uc004efn.1_Missense_Mutation_p.I132T|PCDH11X_uc004efh.1_Missense_Mutation_p.I132T|PCDH11X_uc004efj.1_Missense_Mutation_p.I132T	p.I132T	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			1	1240	+			132			Extracellular (Potential).|Cadherin 1.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.395T>C	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	T	12.98	2.101388	0.37048	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.59364	0.27;0.32;0.34;0.28;0.35;0.3;0.32;0.35;0.34	4.44	4.44	0.53790	Cadherin (2);Cadherin-like (1);	0.115091	0.56097	D	0.000025	T	0.56108	0.1963	M	0.62016	1.91	0.47949	D	0.999552	B;B;B;B;B;B;B;B	0.32128	0.036;0.357;0.178;0.178;0.178;0.112;0.036;0.036	B;B;B;B;B;B;B;B	0.36186	0.042;0.219;0.076;0.076;0.076;0.034;0.042;0.042	T	0.57452	-0.7809	10	0.39692	T	0.17	.	12.2094	0.54371	0.0:0.0:0.0:1.0	.	132;132;132;132;132;132;132;132	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	T	132	ENSP00000378746:I132T;ENSP00000362186:I132T;ENSP00000362189:I132T;ENSP00000355040:I132T;ENSP00000362180:I132T;ENSP00000423762:I132T;ENSP00000355105:I132T;ENSP00000384758:I132T;ENSP00000298274:I132T	ENSP00000298274:I132T	I	+	2	0	PCDH11X	90977554	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.417000	0.59822	1.741000	0.51731	0.412000	0.27726	ATA		0.388	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		13	51	0	0	0	0	13	51				
DRP2	1821	broad.mit.edu	37	X	100510189	100510189	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:100510189A>T	ENST00000395209.3	+	20	2724	c.2197A>T	c.(2197-2199)Agt>Tgt	p.S733C	DRP2_ENST00000541709.1_Missense_Mutation_p.S655C|DRP2_ENST00000538510.1_Missense_Mutation_p.S733C|DRP2_ENST00000402866.1_Missense_Mutation_p.S733C	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	733					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TGAGATGGAAAGTCAAAATTG	0.453																																						uc004egz.2		NA																	0				ovary(2)	2						c.(2197-2199)AGT>TGT		dystrophin related protein 2							169.0	145.0	153.0					X																	100510189		2203	4300	6503	SO:0001583	missense	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100510189A>T	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.2197A>T	X.37:g.100510189A>T	ENSP00000378635:p.Ser733Cys					DRP2_uc011mrh.1_Missense_Mutation_p.S655C	p.S733C	NM_001939	NP_001930	Q13474	DRP2_HUMAN			20	2566	+			733					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	c.2197A>T	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	A	13.80	2.346269	0.41599	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68	4.77	4.77	0.60923	.	0.386587	0.32430	N	0.006106	T	0.80019	0.4547	M	0.73598	2.24	0.39977	D	0.974865	P	0.51653	0.947	B	0.40101	0.319	T	0.81206	-0.1038	10	0.41790	T	0.15	-3.3221	9.4406	0.38666	0.8392:0.0:0.0:0.1608	.	733	Q13474	DRP2_HUMAN	C	733;733;655;733	ENSP00000385038:S733C;ENSP00000378635:S733C;ENSP00000444752:S655C;ENSP00000441051:S733C	ENSP00000378635:S733C	S	+	1	0	DRP2	100396845	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.003000	0.76310	1.764000	0.52075	0.381000	0.24937	AGT		0.453	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		19	111	0	0	0	0	19	111				
GPRASP2	114928	broad.mit.edu	37	X	101970137	101970137	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:101970137G>C	ENST00000535209.1	+	4	1171	c.340G>C	c.(340-342)Gcc>Ccc	p.A114P	GPRASP2_ENST00000543253.1_Missense_Mutation_p.A114P|GPRASP2_ENST00000332262.5_Missense_Mutation_p.A114P			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	114						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						TAAAACTGATGCCAAGGCAAT	0.577																																						uc004ejk.2		NA																	0				ovary(1)	1						c.(340-342)GCC>CCC		G protein-coupled receptor associated sorting							90.0	90.0	90.0					X																	101970137		2203	4300	6503	SO:0001583	missense	114928					cytoplasm	protein binding	g.chrX:101970137G>C	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.340G>C	X.37:g.101970137G>C	ENSP00000437394:p.Ala114Pro					GPRASP2_uc004ejl.2_Missense_Mutation_p.A114P|GPRASP2_uc004ejm.2_Missense_Mutation_p.A114P|GPRASP2_uc011mrp.1_5'Flank	p.A114P	NM_138437	NP_612446	Q96D09	GASP2_HUMAN			4	1674	+			114					D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	37	c.340G>C	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.745884	0.30955	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.03635	3.86;3.86;3.86	4.76	3.88	0.44766	.	0.471231	0.18188	N	0.148922	T	0.06142	0.0159	N	0.20986	0.625	0.21020	N	0.999809	D	0.58268	0.982	P	0.55824	0.785	T	0.40924	-0.9537	10	0.27082	T	0.32	.	11.5837	0.50906	0.0:0.0:0.82:0.18	.	114	Q96D09	GASP2_HUMAN	P	114	ENSP00000437872:A114P;ENSP00000437394:A114P;ENSP00000339057:A114P	ENSP00000339057:A114P	A	+	1	0	GPRASP2	101856793	0.001000	0.12720	0.176000	0.23000	0.006000	0.05464	0.018000	0.13422	1.052000	0.40392	0.600000	0.82982	GCC		0.577	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		38	188	0	0	0	0	38	188				
MORC4	79710	broad.mit.edu	37	X	106200165	106200165	+	Splice_Site	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:106200165C>G	ENST00000355610.4	-	12	1729		c.e12+1		MORC4_ENST00000255495.7_Splice_Site|MORC4_ENST00000535534.1_Splice_Site	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4							nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GTATACTCAACTGTTTCTTAG	0.428																																						uc004emu.3		NA																	0				ovary(1)	1						c.e12+1		zinc finger, CW type with coiled-coil domain 2							183.0	164.0	170.0					X																	106200165		2203	4300	6503	SO:0001630	splice_region_variant	79710						ATP binding|zinc ion binding	g.chrX:106200165C>G	AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 2"", ""zinc finger, CW type with coiled-coil domain 2"""	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.1454+1G>C	X.37:g.106200165C>G						MORC4_uc004emp.3_Intron|MORC4_uc004emv.3_Splice_Site_p.Q485_splice|MORC4_uc004emw.3_Splice_Site_p.Q233_splice	p.Q485_splice	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN			12	1697	-								A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Splice_Site	SNP	ENST00000355610.4	37	c.1454_splice	CCDS14525.2	.	.	.	.	.	.	.	.	.	.	C	19.69	3.873801	0.72180	.	.	ENSG00000133131	ENST00000355610;ENST00000535534;ENST00000255495	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4806	0.61334	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MORC4	106086821	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.880000	0.56145	2.490000	0.84030	0.594000	0.82650	.		0.428	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3	NM_024657	Intron	7	112	0	0	0	0	7	112				
TEX13B	56156	broad.mit.edu	37	X	107224687	107224687	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:107224687C>G	ENST00000302917.1	-	3	654	c.562G>C	c.(562-564)Gcg>Ccg	p.A188P		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	188										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						GCAGCCACCGCCTCCTTTTCC	0.652																																						uc004enn.1		NA																	0				ovary(1)	1						c.(562-564)GCG>CCG		testis expressed 13B							107.0	121.0	116.0					X																	107224687		2198	4291	6489	SO:0001583	missense	56156							g.chrX:107224687C>G	AF285598	CCDS14534.1	Xq23	2008-02-05	2007-03-13		ENSG00000170925	ENSG00000170925			11736	protein-coding gene	gene with protein product		300313	"""testis expressed sequence 13B"""			11279525	Standard	NM_031273		Approved	TSGA5, TGC3B	uc004enn.1	Q9BXU2	OTTHUMG00000022174	ENST00000302917.1:c.562G>C	X.37:g.107224687C>G	ENSP00000303777:p.Ala188Pro						p.A188P	NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN			3	655	-			188					Q5JYF6	Missense_Mutation	SNP	ENST00000302917.1	37	c.562G>C	CCDS14534.1	.	.	.	.	.	.	.	.	.	.	C	8.614	0.889922	0.17540	.	.	ENSG00000170925	ENST00000302917	.	.	.	3.73	-0.326	0.12698	.	.	.	.	.	T	0.37812	0.1017	L	0.38175	1.15	0.09310	N	1	D	0.69078	0.997	P	0.62184	0.899	T	0.18871	-1.0323	8	0.36615	T	0.2	.	3.3678	0.07210	0.0:0.4034:0.2038:0.3927	.	188	Q9BXU2	TX13B_HUMAN	P	188	.	ENSP00000303777:A188P	A	-	1	0	TEX13B	107111343	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.181000	0.09740	-0.205000	0.10219	0.594000	0.82650	GCG		0.652	TEX13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057857.1			47	284	0	0	0	0	47	284				
IRS4	8471	broad.mit.edu	37	X	107978562	107978562	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:107978562G>T	ENST00000372129.2	-	1	1089	c.1013C>A	c.(1012-1014)gCc>gAc	p.A338D	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	338					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GCGGCAGCGGGCTCTGTATTC	0.597																																						uc004eoc.2		NA																	0				ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						c.(1012-1014)GCC>GAC		insulin receptor substrate 4							154.0	152.0	153.0					X																	107978562		2203	4300	6503	SO:0001583	missense	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107978562G>T	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1013C>A	X.37:g.107978562G>T	ENSP00000361202:p.Ala338Asp						p.A338D	NM_003604	NP_003595	O14654	IRS4_HUMAN			1	1046	-			338						Missense_Mutation	SNP	ENST00000372129.2	37	c.1013C>A	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.979864	0.53827	.	.	ENSG00000133124	ENST00000372129	T	0.35605	1.3	4.73	3.87	0.44632	Insulin receptor substrate-1, PTB (1);	0.582304	0.18208	N	0.148275	T	0.30417	0.0764	L	0.32530	0.975	0.41668	D	0.98922	P	0.45902	0.868	B	0.42319	0.383	T	0.10177	-1.0641	10	0.72032	D	0.01	-4.5228	11.9543	0.52973	0.0857:0.0:0.9143:0.0	.	338	O14654	IRS4_HUMAN	D	338	ENSP00000361202:A338D	ENSP00000361202:A338D	A	-	2	0	IRS4	107865218	1.000000	0.71417	0.992000	0.48379	0.984000	0.73092	6.334000	0.72944	1.001000	0.39076	0.600000	0.82982	GCC		0.597	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		47	275	1	0	4.22e-32	6.35e-32	47	275				
RGAG1	57529	broad.mit.edu	37	X	109695144	109695144	+	Silent	SNP	C	C	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:109695144C>G	ENST00000465301.2	+	3	1545	c.1299C>G	c.(1297-1299)gcC>gcG	p.A433A	RGAG1_ENST00000540313.1_Silent_p.A433A	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	433										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CAGTTCCAGCCTCTGGAGCCA	0.512																																						uc004eor.1		NA																	0				lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(1297-1299)GCC>GCG		retrotransposon gag domain containing 1							145.0	142.0	143.0					X																	109695144		2203	4300	6503	SO:0001819	synonymous_variant	57529							g.chrX:109695144C>G	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.1299C>G	X.37:g.109695144C>G						RGAG1_uc011msr.1_Silent_p.A433A	p.A433A	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN			3	1545	+			433					Q9P2M8	Silent	SNP	ENST00000465301.2	37	c.1299C>G	CCDS14552.1																																																																																				0.512	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		34	227	0	0	0	0	34	227				
AGTR2	186	broad.mit.edu	37	X	115303582	115303582	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:115303582G>T	ENST00000371906.4	+	3	239	c.49G>T	c.(49-51)Ggt>Tgt	p.G17C		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	17					aldosterone secretion (GO:0035932)|angiotensin-activated signaling pathway (GO:0038166)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|brain renin-angiotensin system (GO:0002035)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell surface receptor signaling pathway (GO:0007166)|cellular response to dexamethasone stimulus (GO:0071549)|cellular sodium ion homeostasis (GO:0006883)|cerebellar cortex development (GO:0021695)|dopamine biosynthetic process (GO:0042416)|exploration behavior (GO:0035640)|extracellular negative regulation of signal transduction (GO:1900116)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of heart rate (GO:0010459)|negative regulation of icosanoid secretion (GO:0032304)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of norepinephrine secretion (GO:0010700)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|regulation of metanephros size (GO:0035566)|regulation of systemic arterial blood pressure by circulatory renin-angiotensin (GO:0001991)|regulation of transcription factor import into nucleus (GO:0042990)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to organonitrogen compound (GO:0010243)|vasodilation by angiotensin involved in regulation of systemic arterial blood pressure (GO:0002033)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)|peptide hormone binding (GO:0017046)|receptor antagonist activity (GO:0048019)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24					Tasosartan(DB01349)	CATTACCAGCGGTCTTCACTT	0.423																																						uc004eqh.3		NA																	0				ovary(2)|lung(1)	3						c.(49-51)GGT>TGT		angiotensin II receptor, type 2							88.0	76.0	80.0					X																	115303582		2203	4300	6503	SO:0001583	missense	186				behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity	g.chrX:115303582G>T	AY324607	CCDS14569.1	Xq22-q23	2012-08-08			ENSG00000180772	ENSG00000180772		"""GPCR / Class A : Angiotensin receptors"""	338	protein-coding gene	gene with protein product		300034	"""angiotensin receptor 2"""			1550596	Standard	NM_000686		Approved	AT2, MRX88	uc004eqh.4	P50052	OTTHUMG00000022243	ENST00000371906.4:c.49G>T	X.37:g.115303582G>T	ENSP00000360973:p.Gly17Cys						p.G17C	NM_000686	NP_000677	P50052	AGTR2_HUMAN			3	256	+			17			Extracellular (Potential).		B2R9V1|Q13016|Q6FGY7	Missense_Mutation	SNP	ENST00000371906.4	37	c.49G>T	CCDS14569.1	.	.	.	.	.	.	.	.	.	.	G	0.037	-1.303259	0.01353	.	.	ENSG00000180772	ENST00000371906	T	0.70045	-0.45	3.99	1.55	0.23275	.	0.589460	0.17129	N	0.185882	T	0.39545	0.1082	N	0.08118	0	0.09310	N	1	B	0.15930	0.015	B	0.06405	0.002	T	0.18085	-1.0348	10	0.37606	T	0.19	-2.8166	4.7643	0.13125	0.5584:0.0:0.4416:0.0	.	17	P50052	AGTR2_HUMAN	C	17	ENSP00000360973:G17C	ENSP00000360973:G17C	G	+	1	0	AGTR2	115217610	0.000000	0.05858	0.020000	0.16555	0.008000	0.06430	0.623000	0.24447	0.458000	0.26988	-0.417000	0.06048	GGT		0.423	AGTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057984.1	NM_000686		19	60	1	0	2.94e-08	3.88e-08	19	60				
CT83	203413	broad.mit.edu	37	X	115593060	115593060	+	Silent	SNP	G	G	T	rs184008196		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:115593060G>T	ENST00000371894.4	-	2	336	c.190C>A	c.(190-192)Cgg>Agg	p.R64R		NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN		64						integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(3)|lung(8)	12						AAAATATCCCGAGAGAGGTCG	0.408																																						uc004eqj.1		NA																	0					0						c.(190-192)CGG>AGG		chromosome X open reading frame 61							155.0	137.0	143.0					X																	115593060		2203	4300	6503	SO:0001819	synonymous_variant	203413					integral to membrane|plasma membrane		g.chrX:115593060G>T																												ENST00000371894.4:c.190C>A	X.37:g.115593060G>T							p.R64R	NM_001017978	NP_001017978	Q5H943	KKLC1_HUMAN			2	310	-			64			Extracellular (Potential).			Silent	SNP	ENST00000371894.4	37	c.190C>A	CCDS35372.1																																																																																				0.408	CXorf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057985.1			10	102	1	0	3.86e-05	4.64e-05	10	102				
IL13RA1	3597	broad.mit.edu	37	X	117880977	117880977	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:117880977C>A	ENST00000371666.3	+	3	356	c.289C>A	c.(289-291)Caa>Aaa	p.Q97K	IL13RA1_ENST00000371642.1_Missense_Mutation_p.Q97K	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	97	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin production (GO:0002639)	interleukin-13 receptor complex (GO:0005898)|plasma membrane (GO:0005886)	interleukin-13 receptor activity (GO:0016515)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						GATTTGTCTGCAAGTGGGGTC	0.438																																						uc004eqs.2		NA																	0					0						c.(289-291)CAA>AAA		interleukin 13 receptor, alpha 1 precursor							141.0	126.0	131.0					X																	117880977		2203	4300	6503	SO:0001583	missense	3597					interleukin-13 receptor complex	cytokine receptor activity	g.chrX:117880977C>A	U62858	CCDS14573.1	Xq24	2008-02-05			ENSG00000131724	ENSG00000131724		"""Interleukins and interleukin receptors"", ""CD molecules"""	5974	protein-coding gene	gene with protein product	"""IL13 receptor alpha-1 chain"", ""CD213a1 antigen"""	300119				8910586, 9013879	Standard	NM_001560		Approved	IL-13Ra, NR4, CD213a1	uc004eqs.3	P78552	OTTHUMG00000022258	ENST00000371666.3:c.289C>A	X.37:g.117880977C>A	ENSP00000360730:p.Gln97Lys					IL13RA1_uc004eqr.1_Missense_Mutation_p.Q97K|IL13RA1_uc004eqt.1_Missense_Mutation_p.Q97K	p.Q97K	NM_001560	NP_001551	P78552	I13R1_HUMAN			3	332	+			97			Extracellular (Potential).		O95646|Q5JSL4|Q99656|Q9UDY5	Missense_Mutation	SNP	ENST00000371666.3	37	c.289C>A	CCDS14573.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.702753	0.30232	.	.	ENSG00000131724	ENST00000371666;ENST00000371642	D;D	0.91945	-2.64;-2.94	4.9	4.9	0.64082	.	0.186120	0.38164	N	0.001784	D	0.86422	0.5929	N	0.19112	0.55	0.80722	D	1	D;D;B	0.61080	0.989;0.989;0.428	P;P;B	0.50136	0.632;0.632;0.165	D	0.84173	0.0435	10	0.02654	T	1	-7.1965	13.003	0.58687	0.0:1.0:0.0:0.0	.	97;97;97	Q5JSL4;P78552;Q9UDY5	.;I13R1_HUMAN;.	K	97	ENSP00000360730:Q97K;ENSP00000360705:Q97K	ENSP00000360705:Q97K	Q	+	1	0	IL13RA1	117765005	0.998000	0.40836	0.973000	0.42090	0.981000	0.71138	2.136000	0.42121	2.371000	0.80710	0.590000	0.80494	CAA		0.438	IL13RA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058009.1	NM_001560		16	85	1	0	1.15e-07	1.49e-07	16	85				
ZCCHC12	170261	broad.mit.edu	37	X	117959998	117959998	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:117959998T>C	ENST00000310164.2	+	4	1298	c.791T>C	c.(790-792)aTa>aCa	p.I264T		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	264					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						TGCAATGTGATAGAGATAGAT	0.567																																						uc004equ.2		NA																	0				ovary(1)	1						c.(790-792)ATA>ACA		zinc finger, CCHC domain containing 12							82.0	70.0	74.0					X																	117959998		2203	4300	6503	SO:0001583	missense	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117959998T>C	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.791T>C	X.37:g.117959998T>C	ENSP00000308921:p.Ile264Thr						p.I264T	NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN			4	1264	+			264					B3KV48|Q6PID5|Q8N1C1	Missense_Mutation	SNP	ENST00000310164.2	37	c.791T>C	CCDS14574.1	.	.	.	.	.	.	.	.	.	.	T	12.23	1.875829	0.33162	.	.	ENSG00000174460	ENST00000310164	T	0.43688	0.94	3.1	3.1	0.35709	.	.	.	.	.	T	0.44746	0.1308	M	0.78223	2.4	0.30596	N	0.761042	P	0.40731	0.728	P	0.46076	0.503	T	0.41342	-0.9514	9	0.09843	T	0.71	-10.5061	6.9982	0.24795	0.0:0.0:0.0:1.0	.	264	Q6PEW1	ZCH12_HUMAN	T	264	ENSP00000308921:I264T	ENSP00000308921:I264T	I	+	2	0	ZCCHC12	117844026	1.000000	0.71417	0.999000	0.59377	0.490000	0.33462	3.052000	0.49893	1.456000	0.47831	0.486000	0.48141	ATA		0.567	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798		12	82	0	0	0	0	12	82				
ZBTB33	10009	broad.mit.edu	37	X	119389152	119389152	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:119389152G>C	ENST00000326624.2	+	2	2110	c.1882G>C	c.(1882-1884)Ggg>Cgg	p.G628R	ZBTB33_ENST00000557385.1_Missense_Mutation_p.G628R	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	628	Interaction with CTNND1. {ECO:0000250}.|Required for DNA-binding. {ECO:0000250}.				intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						ACCTCCAGTAGGGACCACTAC	0.383																																						uc004esn.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1882-1884)GGG>CGG		kaiso							94.0	89.0	91.0					X																	119389152		2202	4299	6501	SO:0001583	missense	10009				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding	g.chrX:119389152G>C	BC042753	CCDS14596.1	Xq23	2013-01-09			ENSG00000177485	ENSG00000177485		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16682	protein-coding gene	gene with protein product		300329					Standard	NM_001184742		Approved	ZNF-kaiso, kaiso, WUGSC:H_DJ525N14.1, KAISO, ZNF348	uc004esn.1	Q86T24	OTTHUMG00000171159	ENST00000326624.2:c.1882G>C	X.37:g.119389152G>C	ENSP00000314153:p.Gly628Arg					ZBTB33_uc010nqm.1_Missense_Mutation_p.G628R	p.G628R	NM_006777	NP_006768	Q86T24	KAISO_HUMAN			2	2110	+			628			Interaction with CTNND1 (By similarity).|Required for DNA-binding (By similarity).		B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	Missense_Mutation	SNP	ENST00000326624.2	37	c.1882G>C	CCDS14596.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154667	0.38021	.	.	ENSG00000177485;ENSG00000177485;ENSG00000258974	ENST00000326624;ENST00000540105;ENST00000557385	T;T	0.11277	2.79;2.79	5.88	5.88	0.94601	.	0.305479	0.29218	N	0.012784	T	0.12008	0.0292	L	0.29908	0.895	0.54753	D	0.999986	P	0.41748	0.761	B	0.43889	0.435	T	0.21415	-1.0246	10	0.14656	T	0.56	-4.115	18.0058	0.89209	0.0:0.0:1.0:0.0	.	628	Q86T24	KAISO_HUMAN	R	628	ENSP00000314153:G628R;ENSP00000450969:G628R	ENSP00000314153:G628R	G	+	1	0	ZBTB33;AC002086.1	119273180	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.061000	0.64319	2.474000	0.83562	0.600000	0.82982	GGG		0.383	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058085.2	NM_006777		13	88	0	0	0	0	13	88				
CUL4B	8450	broad.mit.edu	37	X	119694442	119694442	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:119694442G>A	ENST00000404115.3	-	3	507	c.106C>T	c.(106-108)Cag>Tag	p.Q36*	CUL4B_ENST00000371322.5_Nonsense_Mutation_p.Q18*|CUL4B_ENST00000336592.6_Nonsense_Mutation_p.Q23*	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	36	Ser-rich.				cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTGACCTCCTGAGCAGCAGCA	0.507																																						uc004esw.2		NA																	0				lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(106-108)CAG>TAG		cullin 4B isoform 1							49.0	41.0	44.0					X																	119694442		2203	4300	6503	SO:0001587	stop_gained	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119694442G>A	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.106C>T	X.37:g.119694442G>A	ENSP00000384109:p.Gln36*					CUL4B_uc004esv.2_Nonsense_Mutation_p.Q18*	p.Q36*	NM_003588	NP_003579	Q13620	CUL4B_HUMAN			3	543	-			36			Ser-rich.		B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Nonsense_Mutation	SNP	ENST00000404115.3	37	c.106C>T	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	g	36	5.805622	0.96967	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	.	.	.	5.6	5.6	0.85130	.	0.245256	0.34435	N	0.003968	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.5776	17.588	0.87988	0.0:0.0:1.0:0.0	.	.	.	.	X	18;23;36	.	.	Q	-	1	0	CUL4B	119578470	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.464000	0.97655	2.369000	0.80426	0.519000	0.50382	CAG		0.507	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		5	16	0	0	0	0	5	16				
STAG2	10735	broad.mit.edu	37	X	123181323	123181323	+	Silent	SNP	A	A	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:123181323A>C	ENST00000371160.1	+	9	1077	c.787A>C	c.(787-789)Agg>Cgg	p.R263R	STAG2_ENST00000371144.3_Silent_p.R263R|STAG2_ENST00000371157.3_Silent_p.R263R|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Silent_p.R263R|STAG2_ENST00000371145.3_Silent_p.R263R|STAG2_ENST00000354548.5_Silent_p.R194R	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	263					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AGCCAATGAGAGGCTAGAACT	0.348																																						uc004etz.3		NA																	0				ovary(4)|skin(1)	5						c.(787-789)AGG>CGG		stromal antigen 2 isoform b							82.0	82.0	82.0					X																	123181323		2203	4300	6503	SO:0001819	synonymous_variant	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123181323A>C	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.787A>C	X.37:g.123181323A>C						STAG2_uc004eua.2_Silent_p.R263R|STAG2_uc004eub.2_Silent_p.R263R|STAG2_uc004euc.2_Silent_p.R263R|STAG2_uc004eud.2_Silent_p.R263R|STAG2_uc004eue.2_Silent_p.R263R	p.R263R	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN			8	1126	+			263					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Silent	SNP	ENST00000371160.1	37	c.787A>C	CCDS14607.1																																																																																				0.348	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		10	55	0	0	0	0	10	55				
SH2D1A	4068	broad.mit.edu	37	X	123480493	123480493	+	Start_Codon_SNP	SNP	A	A	G			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:123480493A>G	ENST00000371139.4	+	1	300	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	SH2D1A_ENST00000491950.1_3'UTR|STAG2_ENST00000469481.1_Intron|SH2D1A_ENST00000477673.2_Start_Codon_SNP_p.M1V|SH2D1A_ENST00000360027.4_Start_Codon_SNP_p.M1V	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN	SH2 domain containing 1A	1					cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|humoral immune response (GO:0006959)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						CCACCAGGCCATGGACGCAGT	0.592																																						uc004euf.3		NA																	0					0						c.(1-3)ATG>GTG		SH2 domain protein 1A isoform 1							87.0	72.0	77.0					X																	123480493		2203	4300	6503	SO:0001582	initiator_codon_variant	4068	X-linked_Lymphoproliferative_syndrome			cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity	g.chrX:123480493A>G	AL023657	CCDS14608.1, CCDS48162.1	Xq25	2014-09-17	2010-04-21		ENSG00000183918	ENSG00000183918		"""SH2 domain containing"""	10820	protein-coding gene	gene with protein product	"""Duncan's disease"""	300490	"""lymphoproliferative syndrome"", ""SH2 domain protein 1A"""	IMD5, LYP		9771704, 9774102	Standard	NM_001114937		Approved	XLP, MTCP1, DSHP, XLPD, EBVS, SAP	uc004euf.4	O60880	OTTHUMG00000022344	ENST00000371139.4:c.1A>G	X.37:g.123480493A>G	ENSP00000360181:p.Met1Val					SH2D1A_uc004euh.3_Missense_Mutation_p.M1V|SH2D1A_uc004eug.3_RNA|SH2D1A_uc010nqw.2_RNA|SH2D1A_uc004eui.3_RNA|SH2D1A_uc010nqx.2_Intron	p.M1V	NM_002351	NP_002342	O60880	SH21A_HUMAN			1	346	+			1					A8MSW0|O95383|O95384|O95385|O95386|Q6FGS6|Q9UNR0	Missense_Mutation	SNP	ENST00000371139.4	37	c.1A>G	CCDS14608.1	.	.	.	.	.	.	.	.	.	.	A	14.00	2.404427	0.42613	.	.	ENSG00000183918	ENST00000371139;ENST00000360027;ENST00000394475	D;D	0.87729	-2.21;-2.29	5.51	5.51	0.81932	.	0.000000	0.64402	U	0.000002	D	0.92928	0.7750	.	.	.	0.80722	D	1	D;P	0.56035	0.974;0.956	D;D	0.70487	0.969;0.931	D	0.93561	0.6895	9	0.72032	D	0.01	-23.6955	12.4045	0.55432	1.0:0.0:0.0:0.0	.	1;1	O60880-4;O60880	.;SH21A_HUMAN	V	1	ENSP00000360181:M1V;ENSP00000353126:M1V	ENSP00000353126:M1V	M	+	1	0	SH2D1A	123308174	1.000000	0.71417	0.980000	0.43619	0.035000	0.12851	6.752000	0.74898	1.834000	0.53371	0.417000	0.27973	ATG		0.592	SH2D1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058174.1	NM_002351	Missense_Mutation	14	100	0	0	0	0	14	100				
TENM1	10178	broad.mit.edu	37	X	123805604	123805604	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:123805604C>A	ENST00000371130.3	-	6	1160	c.1097G>T	c.(1096-1098)aGg>aTg	p.R366M	TENM1_ENST00000422452.2_Missense_Mutation_p.R366M	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	366					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CTCGGTCCCCCTGTTCCCTTT	0.438																																						uc004euj.2		NA																	0				ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(1096-1098)AGG>ATG		odz, odd Oz/ten-m homolog 1 isoform 3							209.0	177.0	188.0					X																	123805604		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123805604C>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.1097G>T	X.37:g.123805604C>A	ENSP00000360171:p.Arg366Met					ODZ1_uc011muj.1_Missense_Mutation_p.R365M|ODZ1_uc010nqy.2_Missense_Mutation_p.R366M	p.R366M	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			6	1161	-			366			Extracellular (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.1097G>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.258538	0.39896	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.85702	-2.02;-1.98	5.97	5.08	0.68730	.	0.285709	0.34932	N	0.003568	T	0.73651	0.3614	N	0.22421	0.69	0.29606	N	0.847314	B;B;B	0.31519	0.327;0.327;0.033	B;B;B	0.31191	0.125;0.087;0.055	T	0.69390	-0.5158	10	0.48119	T	0.1	.	7.1285	0.25486	0.0:0.6654:0.2092:0.1254	.	365;366;366	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	M	366	ENSP00000360171:R366M;ENSP00000403954:R366M	ENSP00000360171:R366M	R	-	2	0	ODZ1	123633285	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.079000	0.30766	1.158000	0.42547	0.594000	0.82650	AGG		0.438	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		26	145	1	0	3.67e-16	5.31e-16	26	145				
ACTRT1	139741	broad.mit.edu	37	X	127185945	127185945	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:127185945C>A	ENST00000371124.3	-	1	437	c.241G>T	c.(241-243)Gga>Tga	p.G81*		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	81						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TCATCCCATCCTGTTACCAGT	0.483																																						uc004eum.2		NA																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(241-243)GGA>TGA		actin-related protein T1							196.0	181.0	186.0					X																	127185945		2203	4300	6503	SO:0001587	stop_gained	139741					cytoplasm|cytoskeleton		g.chrX:127185945C>A	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.241G>T	X.37:g.127185945C>A	ENSP00000360165:p.Gly81*						p.G81*	NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN			1	438	-			81					Q6X7C1|Q96L10	Nonsense_Mutation	SNP	ENST00000371124.3	37	c.241G>T	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244367	0.39697	.	.	ENSG00000123165	ENST00000371124	.	.	.	3.76	-0.713	0.11223	.	1.800600	0.02729	N	0.114863	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.2591	0.31773	0.0:0.2871:0.0:0.7129	.	.	.	.	X	81	.	ENSP00000360165:G81X	G	-	1	0	ACTRT1	127013626	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	0.386000	0.20702	-0.251000	0.09542	-0.296000	0.09543	GGA		0.483	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		57	243	1	0	1.04e-30	1.57e-30	57	243				
MOSPD1	56180	broad.mit.edu	37	X	134033180	134033180	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:134033180G>T	ENST00000370783.3	-	3	356	c.170C>A	c.(169-171)cCa>cAa	p.P57Q	MOSPD1_ENST00000370779.4_Missense_Mutation_p.P57Q|MOSPD1_ENST00000491609.1_Intron|MOSPD1_ENST00000370777.1_Missense_Mutation_p.P57Q	NM_019556.1	NP_062456.1	Q9UJG1	MSPD1_HUMAN	motile sperm domain containing 1	57	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	9	Acute lymphoblastic leukemia(192;0.000127)					ATACTTATTTGGAGTAGTACA	0.343																																						uc004eyb.2		NA																	0				ovary(1)|breast(1)	2						c.(169-171)CCA>CAA		motile sperm domain containing 1							151.0	141.0	144.0					X																	134033180		2203	4300	6503	SO:0001583	missense	56180				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	integral to membrane|nucleus|perinuclear region of cytoplasm	structural molecule activity	g.chrX:134033180G>T	Z83826	CCDS14645.1	Xq26.3	2008-02-05			ENSG00000101928	ENSG00000101928			25235	protein-coding gene	gene with protein product		300674				15533722	Standard	XM_005262446		Approved	dJ473B4	uc004eyb.3	Q9UJG1	OTTHUMG00000035315	ENST00000370783.3:c.170C>A	X.37:g.134033180G>T	ENSP00000359819:p.Pro57Gln					MOSPD1_uc004eya.2_Missense_Mutation_p.P57Q|MOSPD1_uc010nrv.2_Intron|MOSPD1_uc011mvr.1_Missense_Mutation_p.P57Q	p.P57Q	NM_019556	NP_062456	Q9UJG1	MSPD1_HUMAN			3	357	-	Acute lymphoblastic leukemia(192;0.000127)		57			MSP.		B2RE62|D3DTG5|Q5H9C5|Q5H9C7	Missense_Mutation	SNP	ENST00000370783.3	37	c.170C>A	CCDS14645.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488123	0.84854	.	.	ENSG00000101928	ENST00000370783;ENST00000370779;ENST00000370777	T;T;T	0.70986	-0.53;-0.53;-0.53	5.71	5.71	0.89125	PapD-like (2);	0.000000	0.85682	D	0.000000	D	0.84871	0.5568	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.998	D	0.86602	0.1867	10	0.87932	D	0	-10.2637	17.7073	0.88312	0.0:0.0:1.0:0.0	.	57;57;57	B4DR28;Q9UJG1;Q9UJG1-2	.;MSPD1_HUMAN;.	Q	57	ENSP00000359819:P57Q;ENSP00000359815:P57Q;ENSP00000359813:P57Q	ENSP00000359813:P57Q	P	-	2	0	MOSPD1	133860846	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.400000	0.81607	0.594000	0.82650	CCA		0.343	MOSPD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000085439.1	NM_019556		30	119	1	0	3.65e-15	5.25e-15	30	119				
FHL1	2273	broad.mit.edu	37	X	135288651	135288651	+	Silent	SNP	G	G	C			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:135288651G>C	ENST00000345434.3	+	2	141	c.60G>C	c.(58-60)gtG>gtC	p.V20V	FHL1_ENST00000539015.1_Silent_p.V49V|FHL1_ENST00000370676.3_Silent_p.V36V|FHL1_ENST00000394153.2_Silent_p.V20V|FHL1_ENST00000370690.3_Silent_p.V20V|FHL1_ENST00000394155.2_Silent_p.V20V|FHL1_ENST00000535737.1_Silent_p.V20V|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000370683.1_Silent_p.V36V|FHL1_ENST00000543669.1_Silent_p.V20V			Q13642	FHL1_HUMAN	four and a half LIM domains 1	20					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|organ morphogenesis (GO:0009887)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane depolarization (GO:0003254)|regulation of potassium ion transmembrane transporter activity (GO:1901016)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel binding (GO:0044325)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					AGAAGTATGTGCAAAAGGATG	0.567																																						uc004ezo.2		NA																	0					0						c.(58-60)GTG>GTC		four and a half LIM domains 1 isoform 1							192.0	168.0	176.0					X																	135288651		2203	4300	6503	SO:0001819	synonymous_variant	2273				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding	g.chrX:135288651G>C	U60115	CCDS14655.1, CCDS55505.1, CCDS55506.1, CCDS55507.1, CCDS76036.1	Xq26.3	2014-09-17			ENSG00000022267	ENSG00000022267			3702	protein-coding gene	gene with protein product	"""Four-and-a-half LIM domains 1"", ""LIM protein SLIMMER"""	300163				8753811, 9714789	Standard	NM_001449		Approved	SLIM1, KYO-T, bA535K18.1, FHL1B, XMPMA, FLH1A, MGC111107	uc004ezo.3	Q13642	OTTHUMG00000022504	ENST00000345434.3:c.60G>C	X.37:g.135288651G>C						FHL1_uc010nrz.2_Silent_p.V20V|FHL1_uc004ezm.2_RNA|FHL1_uc004ezl.2_Silent_p.V20V|FHL1_uc004ezq.2_Silent_p.V20V|FHL1_uc011mvy.1_Silent_p.V20V|FHL1_uc011mvz.1_Silent_p.V20V|FHL1_uc004ezn.2_Silent_p.V20V|FHL1_uc011mwa.1_Silent_p.V49V|FHL1_uc011mwb.1_RNA|FHL1_uc004ezp.2_Silent_p.V36V|FHL1_uc004ezr.2_5'Flank	p.V20V	NM_001159702	NP_001153174	Q13642	FHL1_HUMAN			2	160	+	Acute lymphoblastic leukemia(192;0.000127)		20			C4-type (Potential).		B7Z5T4|B7Z793|O95212|Q13230|Q13645|Q5JXI7|Q5M7Y6|Q6IB30|Q9NZ40|Q9UKZ8|Q9Y630	Silent	SNP	ENST00000345434.3	37	c.60G>C	CCDS55507.1																																																																																				0.567	FHL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058461.1	NM_001449		38	215	0	0	0	0	38	215				
GPR112	139378	broad.mit.edu	37	X	135426794	135426794	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:135426794C>A	ENST00000394143.1	+	6	1220	c.929C>A	c.(928-930)aCa>aAa	p.T310K	GPR112_ENST00000370652.1_Missense_Mutation_p.T310K|GPR112_ENST00000287534.4_Missense_Mutation_p.T247K|GPR112_ENST00000412101.1_Missense_Mutation_p.T105K|GPR112_ENST00000394141.1_Missense_Mutation_p.T105K	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	310					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)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GTAGATGAGACAGCTACATTT	0.378																																						uc004ezu.1		NA																	0				ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(928-930)ACA>AAA		G-protein coupled receptor 112							138.0	118.0	125.0					X																	135426794		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135426794C>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.929C>A	X.37:g.135426794C>A	ENSP00000377699:p.Thr310Lys					GPR112_uc010nsb.1_Missense_Mutation_p.T105K|GPR112_uc010nsc.1_Missense_Mutation_p.T77K	p.T310K	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	1220	+	Acute lymphoblastic leukemia(192;0.000127)		310			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.929C>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	c	11.29	1.595578	0.28445	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.39056	1.14;1.14;1.1;1.21;1.1	4.27	3.37	0.38596	.	.	.	.	.	T	0.44095	0.1277	L	0.29908	0.895	0.09310	N	1	D;D;D	0.69078	0.997;0.997;0.99	P;P;P	0.59357	0.856;0.856;0.483	T	0.16928	-1.0386	9	0.49607	T	0.09	.	7.2683	0.26242	0.0:0.8596:0.0:0.1404	.	247;105;310	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	K	310;310;105;247;105	ENSP00000377699:T310K;ENSP00000359686:T310K;ENSP00000416526:T105K;ENSP00000287534:T247K;ENSP00000377697:T105K	ENSP00000287534:T247K	T	+	2	0	GPR112	135254460	0.004000	0.15560	0.265000	0.24526	0.155000	0.21991	0.088000	0.14979	0.845000	0.35118	0.502000	0.49764	ACA		0.378	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			11	67	1	0	4.37e-10	5.96e-10	11	67				
GPR112	139378	broad.mit.edu	37	X	135482271	135482271	+	Silent	SNP	T	T	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:135482271T>A	ENST00000394143.1	+	21	8862	c.8571T>A	c.(8569-8571)ggT>ggA	p.G2857G	GPR112_ENST00000370652.1_Silent_p.G2857G|GPR112_ENST00000287534.4_Silent_p.G2610G|GPR112_ENST00000412101.1_Silent_p.G2652G|GPR112_ENST00000394141.1_Silent_p.G2652G	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2857					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)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GTCTAGTTGGTTGGGGTAAGT	0.333																																						uc004ezu.1		NA																	0				ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(8569-8571)GGT>GGA		G-protein coupled receptor 112							131.0	116.0	121.0					X																	135482271		2203	4300	6503	SO:0001819	synonymous_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135482271T>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.8571T>A	X.37:g.135482271T>A						GPR112_uc010nsb.1_Silent_p.G2652G	p.G2857G	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			21	8862	+	Acute lymphoblastic leukemia(192;0.000127)		2857			Helical; Name=4; (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	c.8571T>A	CCDS35409.1																																																																																				0.333	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			8	60	0	0	0	0	8	60				
MCF2	4168	broad.mit.edu	37	X	138670521	138670521	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:138670521G>T	ENST00000370576.4	-	21	2656	c.2447C>A	c.(2446-2448)aCa>aAa	p.T816K	MCF2_ENST00000520602.1_Missense_Mutation_p.T876K|MCF2_ENST00000370573.4_Missense_Mutation_p.T816K|MCF2_ENST00000519895.1_Missense_Mutation_p.T892K|MCF2_ENST00000370578.4_Missense_Mutation_p.T961K|MCF2_ENST00000338585.6_Missense_Mutation_p.T832K|MCF2_ENST00000536274.1_Missense_Mutation_p.T777K|MCF2_ENST00000414978.1_Missense_Mutation_p.T876K	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	816					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GAATTTACCTGTCAAAAGTTC	0.328																																						uc004fau.2		NA																	0				lung(1)|pleura(1)	2						c.(2446-2448)ACA>AAA		MCF.2 cell line derived transforming sequence							60.0	55.0	57.0					X																	138670521		2201	4294	6495	SO:0001583	missense	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138670521G>T		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.2447C>A	X.37:g.138670521G>T	ENSP00000359608:p.Thr816Lys					MCF2_uc004fav.2_Missense_Mutation_p.T832K|MCF2_uc011mwl.1_Missense_Mutation_p.T793K|MCF2_uc010nsh.1_Missense_Mutation_p.T816K|MCF2_uc011mwm.1_Missense_Mutation_p.T777K|MCF2_uc011mwn.1_Missense_Mutation_p.T961K|MCF2_uc004faw.2_Missense_Mutation_p.T876K|MCF2_uc011mwo.1_Missense_Mutation_p.T892K	p.T816K	NM_005369	NP_005360	P10911	MCF2_HUMAN			21	2741	-	Acute lymphoblastic leukemia(192;0.000127)		816					B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	c.2447C>A	CCDS14667.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.108|1.108	-0.659178|-0.659178	0.03454|0.03454	.|.	.|.	ENSG00000101977|ENSG00000101977	ENST00000437564|ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000446225;ENST00000519895;ENST00000370573;ENST00000338585	.|T;T;T;T;T;T;T;T;T	.|0.45668	.|1.43;1.32;1.23;1.42;1.43;0.89;1.46;1.32;1.36	4.32|4.32	4.32|4.32	0.51571|0.51571	.|Pleckstrin homology-type (1);	.|0.337497	.|0.34338	.|N	.|0.004050	T|T	0.29716|0.29716	0.0742|0.0742	L|L	0.49350|0.49350	1.555|1.555	0.30054|0.30054	N|N	0.81147|0.81147	.|B;B;B;B;B;B;B;B	.|0.16396	.|0.002;0.004;0.004;0.002;0.002;0.002;0.017;0.002	.|B;B;B;B;B;B;B;B	.|0.14023	.|0.004;0.003;0.009;0.004;0.009;0.004;0.01;0.004	T|T	0.30563|0.30563	-0.9974|-0.9974	5|10	.|0.02654	.|T	.|1	.|.	8.7022|8.7022	0.34332|0.34332	0.0:0.0:0.7741:0.2258|0.0:0.0:0.7741:0.2258	.|.	.|892;961;777;816;816;961;832;816	.|E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911	.|.;.;.;.;.;.;.;MCF2_HUMAN	E|K	319|876;816;777;961;876;419;892;816;832	.|ENSP00000427745:T876K;ENSP00000359608:T816K;ENSP00000438155:T777K;ENSP00000359610:T961K;ENSP00000397055:T876K;ENSP00000405848:T419K;ENSP00000430276:T892K;ENSP00000359605:T816K;ENSP00000342204:T832K	.|ENSP00000342204:T832K	D|T	-|-	3|2	2|0	MCF2|MCF2	138498187|138498187	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.957000|0.957000	0.61999|0.61999	2.909000|2.909000	0.48758|0.48758	2.403000|2.403000	0.81681|0.81681	0.529000|0.529000	0.55759|0.55759	GAC|ACA		0.328	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		10	39	1	0	2.18e-05	2.66e-05	10	39				
ATP11C	286410	broad.mit.edu	37	X	138844238	138844238	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:138844238G>T	ENST00000327569.3	-	22	2629	c.2531C>A	c.(2530-2532)gCa>gAa	p.A844E	ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370543.1_Missense_Mutation_p.A844E|ATP11C_ENST00000370557.1_Missense_Mutation_p.A838E|ATP11C_ENST00000359686.2_Missense_Mutation_p.A844E|ATP11C_ENST00000361648.2_Missense_Mutation_p.A844E	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	844					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					ATTCCTAGCTGCTTGGCGACC	0.363																																						uc004faz.2		NA																	0				ovary(5)|large_intestine(3)	8						c.(2530-2532)GCA>GAA		ATPase, class VI, type 11C isoform a							158.0	144.0	149.0					X																	138844238		2203	4300	6503	SO:0001583	missense	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138844238G>T	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.2531C>A	X.37:g.138844238G>T	ENSP00000332756:p.Ala844Glu					ATP11C_uc004fax.2_Missense_Mutation_p.A52E|ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Missense_Mutation_p.A844E	p.A844E	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN			22	2630	-	Acute lymphoblastic leukemia(192;0.000127)		844			Cytoplasmic (Potential).		Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	c.2531C>A	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838458	0.91117	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	D;T;T;T;T	0.85773	-2.03;-1.18;-1.18;-1.18;-1.18	5.79	5.79	0.91817	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95978	0.8690	H	0.99026	4.405	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.97799	1.0243	10	0.87932	D	0	.	17.8829	0.88845	0.0:0.0:1.0:0.0	.	844;844;844	Q8NB49-3;Q8NB49;Q8NB49-2	.;AT11C_HUMAN;.	E	838;844;844;844;844	ENSP00000359588:A838E;ENSP00000355165:A844E;ENSP00000332756:A844E;ENSP00000359574:A844E;ENSP00000352715:A844E	ENSP00000332756:A844E	A	-	2	0	ATP11C	138671904	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.357000	0.97099	2.444000	0.82710	0.544000	0.68410	GCA		0.363	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		27	136	1	0	3.17e-13	4.5e-13	27	136				
CDR1	1038	broad.mit.edu	37	X	139866430	139866430	+	Silent	SNP	C	C	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:139866430C>T	ENST00000370532.2	-	1	293	c.102G>A	c.(100-102)ttG>ttA	p.L34L		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	34	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				TTGTGTCTTCCAACAAAGGTA	0.453																																						uc004fbg.1		NA																	0					0						c.(100-102)TTG>TTA		cerebellar degeneration-related protein 1,							163.0	154.0	157.0					X																	139866430		2203	4300	6503	SO:0001819	synonymous_variant	1038							g.chrX:139866430C>T		CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"""Cerebellar degeneration-related protein-1 (34kD)"""	302650	"""cerebellar degeneration-related protein (34kD)"""	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.102G>A	X.37:g.139866430C>T						uc004fbf.1_RNA	p.L34L	NM_004065	NP_004056	P51861	CDR1_HUMAN			1	294	-	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)	34			23 X 6 AA approximate repeats.|6.		Q5JXH6	Silent	SNP	ENST00000370532.2	37	c.102G>A	CCDS14670.1																																																																																				0.453	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058583.1	NM_004065		33	207	0	0	0	0	33	207				
UBE2NL	389898	broad.mit.edu	37	X	142967601	142967601	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:142967601C>A	ENST00000370494.1	+	1	429	c.399C>A	c.(397-399)aaC>aaA	p.N133K		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like (gene/pseudogene)	133						extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GGAAGACCAACGAAGCCCAAG	0.438																																						uc004fca.2		NA																	0					0						c.(397-399)AAC>AAA		ubiquitin-conjugating enzyme E2N-like							145.0	119.0	128.0					X																	142967601		2203	4300	6503	SO:0001583	missense	389898						acid-amino acid ligase activity	g.chrX:142967601C>A			Xq27.3	2014-06-11	2014-06-11		ENSG00000102069			"""Ubiquitin-conjugating enzymes E2"""	31710	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2N-like"""			20736409	Standard	NM_001012989		Approved		uc004fca.3	Q5JXB2	OTTHUMG00000022586	ENST00000370494.1:c.399C>A	X.37:g.142967601C>A	ENSP00000359525:p.Asn133Lys						p.N133K	NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN			1	429	+	Acute lymphoblastic leukemia(192;6.56e-05)		133					E9KL27	Missense_Mutation	SNP	ENST00000370494.1	37	c.399C>A	CCDS35420.1	.	.	.	.	.	.	.	.	.	.	C	5.890	0.348297	0.11126	.	.	ENSG00000102069	ENST00000370494	T	0.74106	-0.81	1.16	0.228	0.15364	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.33515	U	0.004826	T	0.77624	0.4158	M	0.88377	2.95	0.51482	D	0.999921	B	0.32051	0.354	B	0.42593	0.392	T	0.72769	-0.4193	10	0.87932	D	0	-0.0189	3.8898	0.09114	0.0:0.5172:0.0:0.4828	.	133	Q5JXB2	UE2NL_HUMAN	K	133	ENSP00000359525:N133K	ENSP00000359525:N133K	N	+	3	2	UBE2NL	142795267	1.000000	0.71417	0.996000	0.52242	0.087000	0.18053	1.262000	0.32992	0.031000	0.15407	0.181000	0.17075	AAC		0.438	UBE2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058624.1	NM_001012989		9	101	1	0	4.69e-08	6.13e-08	9	101				
MAGEA11	4110	broad.mit.edu	37	X	148798378	148798378	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:148798378C>A	ENST00000355220.5	+	5	1334	c.1232C>A	c.(1231-1233)cCc>cAc	p.P411H	MAGEA11_ENST00000333104.4_Missense_Mutation_p.P382H	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	411	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGGAGGGATCCCACTTCTTAC	0.547																																						uc004fdq.2		NA																	0				ovary(2)	2						c.(1231-1233)CCC>CAC		melanoma antigen family A, 11 isoform a							142.0	109.0	120.0					X																	148798378		2203	4300	6503	SO:0001583	missense	4110					cytoplasm|nucleus	protein binding	g.chrX:148798378C>A		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"""MAGE-11 antigen"", ""melanoma-associated antigen 11"", ""cancer/testis antigen family 1, member 11"""	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.1232C>A	X.37:g.148798378C>A	ENSP00000347358:p.Pro411His					HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.P382H	p.P411H	NM_005366	NP_005357	P43364	MAGAB_HUMAN			5	1334	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		411			MAGE.		Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	ENST00000355220.5	37	c.1232C>A	CCDS48180.1	.	.	.	.	.	.	.	.	.	.	N	4.650	0.120919	0.08881	.	.	ENSG00000185247	ENST00000333104;ENST00000355220	T;T	0.02606	4.23;4.27	0.976	-1.53	0.08611	.	.	.	.	.	T	0.05868	0.0153	M	0.82193	2.58	0.09310	N	1	P;P	0.44690	0.841;0.745	P;B	0.45913	0.497;0.365	T	0.14896	-1.0456	8	.	.	.	.	1.7883	0.03046	0.3164:0.4301:0.0:0.2536	.	382;411	G5E962;P43364	.;MAGAB_HUMAN	H	382;411	ENSP00000328177:P382H;ENSP00000347358:P411H	.	P	+	2	0	MAGEA11	148576027	0.003000	0.15002	0.000000	0.03702	0.003000	0.03518	1.663000	0.37429	-0.699000	0.05077	-0.587000	0.04127	CCC		0.547	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		24	168	1	0	5.45e-15	7.81e-15	24	168				
MAGEA5	4104	broad.mit.edu	37	X	151283933	151283934	+	RNA	DNP	CC	CC	AA			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:151283933_151283934CC>AA	ENST00000509345.2	-	0	402_403																		p.G27V(1)									AGCCTGCACACCCACCAGGCCC	0.624																																						uc004ffj.2		NA																	1	Substitution - Missense(1)		endometrium(1)		0						c.(79-81)GGT>TTT		melanoma antigen family A, 5																																						4104							g.chrX:151283933_151283934CC>AA																												Exception_encountered	X.37:g.151283933_151283934delinsAA							p.G27F	NM_021049	NP_066387	P43359	MAGA5_HUMAN			3	284_285	-	Acute lymphoblastic leukemia(192;6.56e-05)		27			MAGE.			Missense_Mutation	DNP	ENST00000509345.2	37	c.79_80GG>TT																																																																																					0.624	RP11-1007I13.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000445981.1			20	115	0	0	0	0	20	115				
SRPK3	26576	broad.mit.edu	37	X	153046726	153046726	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:153046726C>A	ENST00000370101.3	+	2	161	c.115C>A	c.(115-117)Ccg>Acg	p.P39T	SRPK3_ENST00000370108.3_Missense_Mutation_p.P39T|SRPK3_ENST00000370100.1_Intron|SRPK3_ENST00000370104.1_Missense_Mutation_p.P39T|SRPK3_ENST00000489426.1_Missense_Mutation_p.P106T|SRPK3_ENST00000393786.3_Missense_Mutation_p.P39T	NM_001170760.1|NM_014370.3	NP_001164231.1|NP_055185.2	Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	39					cell differentiation (GO:0030154)|muscle tissue development (GO:0060537)|skeletal muscle tissue development (GO:0007519)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTGGCCACACCGGTGCCTCA	0.662																																					Esophageal Squamous(167;766 3400 32156)	uc004fil.2		NA																	0				pancreas(2)|lung(1)	3						c.(115-117)CCG>ACG		serine arginine rich protein-specific kinase 3							24.0	24.0	24.0					X																	153046726		2192	4293	6485	SO:0001583	missense	26576				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity	g.chrX:153046726C>A	AF027406	CCDS35441.1, CCDS55537.1, CCDS55538.1	Xq28	2010-06-23	2010-06-23	2006-08-17	ENSG00000184343	ENSG00000184343			11402	protein-coding gene	gene with protein product			"""serine/threonine kinase 23"", ""SFRS protein kinase 3"""	STK23		16140986	Standard	NM_014370		Approved	MSSK1	uc004fil.3	Q9UPE1	OTTHUMG00000024207	ENST00000370101.3:c.115C>A	X.37:g.153046726C>A	ENSP00000359119:p.Pro39Thr					SRPK3_uc004fik.2_Missense_Mutation_p.P105T|SRPK3_uc010nul.2_Intron|SRPK3_uc004fin.2_Missense_Mutation_p.P39T|SRPK3_uc004fim.2_Missense_Mutation_p.P39T	p.P39T	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN			2	147	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		39					Q13583|Q4F970|Q562F5|Q9UM62	Missense_Mutation	SNP	ENST00000370101.3	37	c.115C>A	CCDS35441.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.414|5.414	0.261521|0.261521	0.10239|0.10239	.|.	.|.	ENSG00000184343|ENSG00000184343	ENST00000430541|ENST00000489426;ENST00000393786;ENST00000370104;ENST00000370108;ENST00000370101	.|T;T;T;T;T	.|0.55588	.|0.51;0.57;0.55;0.56;0.55	4.21|4.21	2.35|2.35	0.29111|0.29111	.|.	.|0.000000	.|0.41823	.|D	.|0.000801	T|T	0.31734|0.31734	0.0806|0.0806	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	0.999999|0.999999	.|B;P;B;P	.|0.44195	.|0.004;0.828;0.002;0.826	.|B;B;B;B	.|0.40782	.|0.01;0.33;0.004;0.34	T|T	0.20940|0.20940	-1.0260|-1.0260	5|10	.|0.15952	.|T	.|0.53	-15.8031|-15.8031	11.0035|11.0035	0.47620|0.47620	0.0:0.6443:0.3557:0.0|0.0:0.6443:0.3557:0.0	.|.	.|39;39;39;106	.|Q9UPE1-4;Q9UPE1-3;Q9UPE1;E7ETV6	.|.;.;SRPK3_HUMAN;.	Q|T	52|106;39;39;39;39	.|ENSP00000420058:P106T;ENSP00000377376:P39T;ENSP00000359122:P39T;ENSP00000359126:P39T;ENSP00000359119:P39T	.|ENSP00000359119:P39T	H|P	+|+	3|1	2|0	SRPK3|SRPK3	152699920|152699920	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.003000|0.003000	0.03518|0.03518	0.401000|0.401000	0.20948|0.20948	0.245000|0.245000	0.21373|0.21373	0.529000|0.529000	0.55759|0.55759	CAC|CCG		0.662	SRPK3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354501.1	NM_014370		9	44	1	0	0.000274275	0.000317014	9	44				
SRPK3	26576	broad.mit.edu	37	X	153049747	153049747	+	Splice_Site	SNP	A	A	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:153049747A>T	ENST00000370101.3	+	11	1193		c.e11-1		SRPK3_ENST00000370108.3_Splice_Site|SRPK3_ENST00000370100.1_Splice_Site|IDH3G_ENST00000497043.1_5'Flank|SRPK3_ENST00000370104.1_Splice_Site|SRPK3_ENST00000489426.1_Splice_Site|SRPK3_ENST00000393786.3_Splice_Site	NM_001170760.1|NM_014370.3	NP_001164231.1|NP_055185.2	Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3						cell differentiation (GO:0030154)|muscle tissue development (GO:0060537)|skeletal muscle tissue development (GO:0007519)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCCTTCCCCAGCACCATTCG	0.612																																					Esophageal Squamous(167;766 3400 32156)	uc004fil.2		NA																	0				pancreas(2)|lung(1)	3						c.e11-2		serine arginine rich protein-specific kinase 3							60.0	54.0	56.0					X																	153049747		2203	4300	6503	SO:0001630	splice_region_variant	26576				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity	g.chrX:153049747A>T	AF027406	CCDS35441.1, CCDS55537.1, CCDS55538.1	Xq28	2010-06-23	2010-06-23	2006-08-17	ENSG00000184343	ENSG00000184343			11402	protein-coding gene	gene with protein product			"""serine/threonine kinase 23"", ""SFRS protein kinase 3"""	STK23		16140986	Standard	NM_014370		Approved	MSSK1	uc004fil.3	Q9UPE1	OTTHUMG00000024207	ENST00000370101.3:c.1148-1A>T	X.37:g.153049747A>T						SRPK3_uc004fik.2_Splice_Site_p.T449_splice|SRPK3_uc010nul.2_Splice_Site_p.T307_splice|SRPK3_uc004fin.2_Splice_Site_p.T382_splice|SRPK3_uc004fim.2_Splice_Site_p.T349_splice	p.T383_splice	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN			11	1180	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)							Q13583|Q4F970|Q562F5|Q9UM62	Splice_Site	SNP	ENST00000370101.3	37	c.1148_splice	CCDS35441.1	.	.	.	.	.	.	.	.	.	.	A	12.31	1.900635	0.33535	.	.	ENSG00000184343	ENST00000489426;ENST00000393786;ENST00000370104;ENST00000370108;ENST00000370101;ENST00000370100	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6319	0.56663	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SRPK3	152702941	1.000000	0.71417	0.360000	0.25837	0.367000	0.29736	3.736000	0.55052	1.827000	0.53221	0.430000	0.28490	.		0.612	SRPK3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354501.1	NM_014370	Intron	12	56	0	0	0	0	12	56				
HCFC1	3054	broad.mit.edu	37	X	153218076	153218076	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:153218076C>A	ENST00000310441.7	-	19	5797	c.4831G>T	c.(4831-4833)Gag>Tag	p.E1611*	HCFC1_ENST00000369984.4_Nonsense_Mutation_p.E1655*|HCFC1_ENST00000354233.3_Nonsense_Mutation_p.E1542*	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1611					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACTGCCAGCTCCTCGGGGGTG	0.662																																						uc004fjp.2		NA																	0				ovary(2)	2						c.(4831-4833)GAG>TAG		host cell factor 1							27.0	31.0	29.0					X																	153218076		1998	4133	6131	SO:0001587	stop_gained	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153218076C>A		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.4831G>T	X.37:g.153218076C>A	ENSP00000309555:p.Glu1611*						p.E1611*	NM_005334	NP_005325	P51610	HCFC1_HUMAN			19	5359	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1611					Q6P4G5	Nonsense_Mutation	SNP	ENST00000310441.7	37	c.4831G>T	CCDS44020.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.247503|5.247503	0.95305|0.95305	.|.	.|.	ENSG00000172534|ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233|ENST00000444191	.|.	.|.	.|.	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.74390	.|0.3710	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73000	.|-0.4120	.|3	0.49607|.	T|.	0.09|.	.|.	17.6611|17.6611	0.88193|0.88193	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	1611;1655;1542|185	.|.	ENSP00000309555:E1611X|.	E|G	-|-	1|2	0|0	HCFC1|HCFC1	152871270|152871270	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.459000|0.459000	0.32528|0.32528	6.688000|6.688000	0.74557|0.74557	2.443000|2.443000	0.82685|0.82685	0.513000|0.513000	0.50165|0.50165	GAG|GGA		0.662	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		11	49	1	0	1.59e-06	1.99e-06	11	49				
GAB3	139716	broad.mit.edu	37	X	153944560	153944560	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chrX:153944560G>T	ENST00000369575.3	-	2	148	c.117C>A	c.(115-117)agC>agA	p.S39R	GAB3_ENST00000424127.2_Missense_Mutation_p.S39R|GAB3_ENST00000496390.1_5'UTR	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	39	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				macrophage differentiation (GO:0030225)					NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGGGGTTGCCGCTCATGCGGC	0.562																																						uc004fmj.1		NA																	0				ovary(1)	1						c.(115-117)AGC>AGA		Gab3 protein isoform 2							51.0	48.0	49.0					X																	153944560		2203	4300	6503	SO:0001583	missense	139716							g.chrX:153944560G>T	AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"""Pleckstrin homology (PH) domain containing"""	17515	protein-coding gene	gene with protein product	"""DOS/Gab family member 3"", ""Gab3 scaffolding protein"""	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.117C>A	X.37:g.153944560G>T	ENSP00000358588:p.Ser39Arg					GAB3_uc004fmk.1_Missense_Mutation_p.S39R|GAB3_uc010nve.1_Missense_Mutation_p.S39R|GAB3_uc004fml.1_5'UTR	p.S39R	NM_080612	NP_542179	Q8WWW8	GAB3_HUMAN			2	165	-	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		39			PH.		A6NHF8|E9PB44	Missense_Mutation	SNP	ENST00000369575.3	37	c.117C>A	CCDS14760.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688901	0.68271	.	.	ENSG00000160219	ENST00000369575;ENST00000369568;ENST00000424127	T;T;T	0.26518	1.73;2.0;2.04	5.04	-2.14	0.07123	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.074580	0.85682	D	0.000000	T	0.42966	0.1226	M	0.73962	2.25	0.53688	D	0.999978	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.72075	0.976;0.976;0.976	T	0.25257	-1.0137	10	0.51188	T	0.08	4.8837	9.8717	0.41177	0.6631:0.0:0.3369:0.0	.	39;39;39	A6NHF8;E9PB44;Q8WWW8	.;.;GAB3_HUMAN	R	39	ENSP00000358588:S39R;ENSP00000358581:S39R;ENSP00000399588:S39R	ENSP00000358581:S39R	S	-	3	2	GAB3	153597754	0.200000	0.23398	0.990000	0.47175	0.991000	0.79684	-0.409000	0.07160	-0.546000	0.06216	-0.395000	0.06472	AGC		0.562	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061192.2	NM_001081573		10	56	1	0	0.000442599	0.000507443	10	56				
UHRF1BP1L	23074	broad.mit.edu	37	12	100451839	100451840	+	Frame_Shift_Ins	INS	-	-	G	rs550401137		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr12:100451839_100451840insG	ENST00000279907.7	-	14	3427_3428	c.3215_3216insC	c.(3214-3216)ccafs	p.P1072fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.P722fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1072										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGTTCTAACTGGGGGGGTCTC	0.371																																						uc001tgq.2		NA																	0				ovary(2)	2						c.(3214-3216)CCAfs		UHRF1 (ICBP90) binding protein 1-like isoform a																																				SO:0001589	frameshift_variant	23074							g.chr12:100451839_100451840insG		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.3216dupC	12.37:g.100451846_100451846dupG	ENSP00000279907:p.Pro1072fs					UHRF1BP1L_uc001tgp.2_Frame_Shift_Ins_p.P722fs	p.P1072fs	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN			14	3444_3445	-			1072					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Frame_Shift_Ins	INS	ENST00000279907.7	37	c.3215_3216insC	CCDS31882.1																																																																																				0.371	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		21	88	NA	NA	NA	NA	21	88	---	---	---	---
LYZL6	57151	broad.mit.edu	37	17	34263770	34263770	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr17:34263770delC	ENST00000585556.1	-	4	700	c.366delG	c.(364-366)gggfs	p.G122fs	LYZL6_ENST00000394523.3_Frame_Shift_Del_p.G122fs|LYZL6_ENST00000293274.4_Frame_Shift_Del_p.G122fs|LYZL6_ENST00000492340.2_5'UTR			O75951	LYZL6_HUMAN	lysozyme-like 6	122					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGTTGTTCATCCCCCGTGCTC	0.572																																						uc002hkj.1		NA																	0					0						c.(364-366)GGGfs		lysozyme-like 6 precursor							115.0	104.0	108.0					17																	34263770		2203	4300	6503	SO:0001589	frameshift_variant	57151				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr17:34263770delC	AF088219, AY742214	CCDS11302.1	17q11.2	2014-04-10			ENSG00000161572	ENSG00000275722			29614	protein-coding gene	gene with protein product		612751				10213461	Standard	NM_020426		Approved	LYC1, PRO1485, TKAL754	uc002hkj.2	O75951	OTTHUMG00000188400	ENST00000585556.1:c.366delG	17.37:g.34263770delC	ENSP00000468094:p.Gly122fs					LYZL6_uc002hkk.1_Frame_Shift_Del_p.G122fs	p.G122fs	NM_020426	NP_065159	O75951	LYZL6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	3	516	-			122					Q6UW30	Frame_Shift_Del	DEL	ENST00000585556.1	37	c.366delG	CCDS11302.1																																																																																				0.572	LYZL6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256578.2	NM_020426		31	139	NA	NA	NA	NA	31	139	---	---	---	---
STRADA	92335	broad.mit.edu	37	17	61791420	61791420	+	Frame_Shift_Del	DEL	C	C	-	rs371845914		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr17:61791420delC	ENST00000336174.6	-	5	284	c.172delG	c.(172-174)gtcfs	p.V58fs	STRADA_ENST00000580039.1_Intron|STRADA_ENST00000447001.3_Intron|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000375840.4_5'UTR|STRADA_ENST00000392950.4_Frame_Shift_Del_p.V21fs|STRADA_ENST00000245865.5_5'UTR|STRADA_ENST00000579340.1_5'UTR|STRADA_ENST00000582137.1_Frame_Shift_Del_p.V29fs	NM_001003787.2	NP_001003787.1	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	58					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|protein export from nucleus (GO:0006611)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						CTACTCATGACCTCCTGTTTA	0.488																																						uc002jbm.2		NA																	0				ovary(1)	1						c.(172-174)GTCfs		STE20-related kinase adaptor alpha isoform 1							161.0	134.0	143.0					17																	61791420		2203	4300	6503	SO:0001589	frameshift_variant	92335				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity	g.chr17:61791420delC	AF308302	CCDS11642.1, CCDS32703.1, CCDS42367.1, CCDS54156.1, CCDS58585.1	17q23.3	2014-09-04			ENSG00000266173	ENSG00000266173			30172	protein-coding gene	gene with protein product	"""STE20-like pseudokinase"""	608626				12805220, 17921699	Standard	NM_153335		Approved	NY-BR-96, LYK5, Stlk, STRAD	uc002jbm.3	Q7RTN6	OTTHUMG00000178908	ENST00000336174.6:c.172delG	17.37:g.61791420delC	ENSP00000336655:p.Val58fs					STRADA_uc002jbn.2_5'UTR|STRADA_uc002jbo.2_Frame_Shift_Del_p.V21fs|STRADA_uc002jbp.2_Frame_Shift_Del_p.V21fs|STRADA_uc002jbq.2_5'UTR|STRADA_uc010wpq.1_Intron|STRADA_uc010wpr.1_Frame_Shift_Del_p.V29fs|STRADA_uc010ddw.2_Frame_Shift_Del_p.V29fs|STRADA_uc002jbr.2_5'UTR	p.V58fs	NM_001003787	NP_001003787	Q7RTN6	STRAA_HUMAN			5	331	-			58					B4DDE3|B4DW17|J3KTC9|Q5JPI2|Q7Z4K9|Q8NC31|Q8NCF1|Q9H272	Frame_Shift_Del	DEL	ENST00000336174.6	37	c.172delG	CCDS32703.1																																																																																				0.488	STRADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443894.1			19	62	NA	NA	NA	NA	19	62	---	---	---	---
NCKAP5	344148	broad.mit.edu	37	2	133541907	133541907	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:133541907delG	ENST00000409261.1	-	14	2850	c.2477delC	c.(2476-2478)cctfs	p.P826fs	NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000317721.6_Frame_Shift_Del_p.P826fs|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	826										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCCAGATGAAGGGAGTAGTGT	0.473																																						uc002ttp.2		NA																	0					0						c.(2476-2478)CCTfs		Nck-associated protein 5 isoform 1							162.0	164.0	163.0					2																	133541907		1906	4122	6028	SO:0001589	frameshift_variant	344148						protein binding	g.chr2:133541907delG	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.2477delC	2.37:g.133541907delG	ENSP00000387128:p.Pro826fs					NCKAP5_uc002ttq.2_Intron	p.P826fs	NM_207363	NP_997246	O14513	NCKP5_HUMAN			14	2851	-			826					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Frame_Shift_Del	DEL	ENST00000409261.1	37	c.2477delC	CCDS46418.1																																																																																				0.473	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		43	199	NA	NA	NA	NA	43	199	---	---	---	---
FARP2	9855	broad.mit.edu	37	2	242373725	242373726	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr2:242373725_242373726insT	ENST00000264042.3	+	10	1190_1191	c.1020_1021insT	c.(1021-1023)ttcfs	p.F341fs	FARP2_ENST00000545004.1_Frame_Shift_Ins_p.F341fs|FARP2_ENST00000373287.4_Frame_Shift_Ins_p.F341fs	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	341					actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GGGGCTCCTCCTTCAGATACAG	0.46																																						uc002wbi.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1018-1023)TCCTTCfs		FERM, RhoGEF and pleckstrin domain protein 2																																				SO:0001589	frameshift_variant	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242373725_242373726insT	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.1022dupT	2.37:g.242373727_242373727dupT	ENSP00000264042:p.Phe341fs					FARP2_uc010zoq.1_Frame_Shift_Ins_p.S340fs|FARP2_uc010zor.1_Frame_Shift_Ins_p.S340fs	p.S340fs	NM_014808	NP_055623	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	10	1137_1138	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	340_341					B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Frame_Shift_Ins	INS	ENST00000264042.3	37	c.1020_1021insT	CCDS33424.1																																																																																				0.460	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			10	56	NA	NA	NA	NA	10	56	---	---	---	---
APC	324	broad.mit.edu	37	5	112175846	112175846	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr5:112175846delG	ENST00000457016.1	+	16	4935	c.4555delG	c.(4555-4557)gatfs	p.D1519fs	APC_ENST00000508376.2_Frame_Shift_Del_p.D1519fs|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Frame_Shift_Del_p.D1519fs			P25054	APC_HUMAN	adenomatous polyposis coli	1519	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.D1519N(1)|p.K1454fs*3(1)|p.D1519fs*2(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TATACAGAAAGATGTGGAATT	0.388		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	uc010jby.2		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	D|Mis|N|F|S	adenomatous polyposis of the colon gene			"""E, M, O"""		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS		5	Deletion - Frameshift(2)|Substitution - Missense(1)|Unknown(1)|Complex - frameshift(1)	p.K1454fs*3(1)|p.D1519fs*2(1)|p.K1192fs*3(1)|p.?(1)|p.D1519fs*4(1)	large_intestine(2)|thyroid(1)|soft_tissue(1)|skin(1)	large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515						c.(4555-4557)GATfs		adenomatous polyposis coli							77.0	79.0	78.0					5																	112175846		2202	4300	6502	SO:0001589	frameshift_variant	324	Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112175846delG	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4555delG	5.37:g.112175846delG	ENSP00000413133:p.Asp1519fs	TSP Lung(16;0.13)				APC_uc011cvt.1_Frame_Shift_Del_p.D1501fs|APC_uc003kpz.3_Frame_Shift_Del_p.D1519fs|APC_uc003kpy.3_Frame_Shift_Del_p.D1519fs|APC_uc010jbz.2_Frame_Shift_Del_p.D1236fs|APC_uc010jca.2_Frame_Shift_Del_p.D819fs	p.D1519fs	NM_001127511	NP_001120983	P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	4935	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1519			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Del	DEL	ENST00000457016.1	37	c.4555delG	CCDS4107.1																																																																																				0.388	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		13	37	NA	NA	NA	NA	13	37	---	---	---	---
AMPH	273	broad.mit.edu	37	7	38471788	38471788	+	Splice_Site	DEL	C	C	-			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:38471788delC	ENST00000356264.2	-	13	1374		c.e13+1		AMPH_ENST00000471913.1_5'Flank|AMPH_ENST00000428293.2_Splice_Site|AMPH_ENST00000325590.5_Splice_Site	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin						endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TAGTGGCTTACCGTCCATAGG	0.328																																						uc003tgu.2		NA																	0				ovary(3)|liver(1)|skin(1)	5						c.e13+1		amphiphysin isoform 1							106.0	109.0	108.0					7																	38471788		2203	4300	6503	SO:0001630	splice_region_variant	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38471788delC		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1158+1G>-	7.37:g.38471788delC						AMPH_uc003tgv.2_Splice_Site_p.T386_splice|AMPH_uc003tgt.2_Splice_Site_p.T139_splice|AMPH_uc003tgw.1_5'Flank|AMPH_uc010kxl.1_5'Flank	p.T386_splice	NM_001635	NP_001626	P49418	AMPH_HUMAN			13	1227	-								A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Splice_Site	DEL	ENST00000356264.2	37	c.1158_splice	CCDS5456.1																																																																																				0.328	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635	Intron	18	60	NA	NA	NA	NA	18	60	---	---	---	---
MGAM	8972	broad.mit.edu	37	7	141752606	141752607	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr7:141752606_141752607insT	ENST00000549489.2	+	26	3076_3077	c.2981_2982insT	c.(2980-2985)ccttttfs	p.PF994fs	MGAM_ENST00000475668.2_Frame_Shift_Ins_p.PF994fs	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	994	P-type 2. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCTGGAGTCCCTTTTTGCTATT	0.421																																						uc003vwy.2		NA																	0				ovary(2)	2						c.(2980-2982)CCTfs		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)																																			SO:0001589	frameshift_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141752606_141752607insT	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.2986dupT	7.37:g.141752611_141752611dupT	ENSP00000447378:p.Pro994fs						p.P994fs	NM_004668	NP_004659	O43451	MGA_HUMAN			26	3035_3036	+	Melanoma(164;0.0272)		994			Lumenal (Potential).|P-type 2.		Q0VAX6|Q75ME7|Q86UM5	Frame_Shift_Ins	INS	ENST00000549489.2	37	c.2981_2982insT	CCDS47727.1																																																																																				0.421	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			26	123	NA	NA	NA	NA	26	123	---	---	---	---
PCMTD1	115294	broad.mit.edu	37	8	52733128	52733128	+	Frame_Shift_Del	DEL	T	T	-	rs62506083		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr8:52733128delT	ENST00000360540.5	-	7	1263	c.857delA	c.(856-858)aacfs	p.N286fs	PCMTD1_ENST00000522514.1_Frame_Shift_Del_p.N286fs|PCMTD1_ENST00000544451.1_Frame_Shift_Del_p.N210fs|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	286						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TACGTAAGTGTTAATTCTCTG	0.398																																						uc003xqx.3		NA																	0					0						c.(856-858)AACfs		protein-L-isoaspartate (D-aspartate)							188.0	187.0	188.0					8																	52733128		2203	4300	6503	SO:0001589	frameshift_variant	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52733128delT		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.857delA	8.37:g.52733128delT	ENSP00000353739:p.Asn286fs					PCMTD1_uc011ldm.1_Frame_Shift_Del_p.N156fs|PCMTD1_uc003xqw.3_Frame_Shift_Del_p.N286fs|PCMTD1_uc011ldn.1_Frame_Shift_Del_p.N98fs|PCMTD1_uc010lya.2_Frame_Shift_Del_p.N210fs	p.N286fs	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN			6	1198	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	286					Q96FK9	Frame_Shift_Del	DEL	ENST00000360540.5	37	c.857delA	CCDS6148.1																																																																																				0.398	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		11	180	NA	NA	NA	NA	11	180	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21974720	21974721	+	Frame_Shift_Ins	INS	-	-	C	rs398123152|rs200382984		TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr9:21974720_21974721insC	ENST00000304494.5	-	1	376_377	c.106_107insG	c.(106-108)gcgfs	p.A36fs	CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.A36fs|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.A36fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.A36fs|CDKN2A_ENST00000530628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	36					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.L32_L37del(5)|p.G35fs*13(1)|p.A36T(1)|p.0(1)|p.V28_V51del(1)|p.E33fs*8(1)|p.L37fs*6(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GTTGGGCAGCGCCCCCGCCTCC	0.728		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1349	Whole gene deletion(1316)|Unknown(23)|Deletion - In frame(6)|Deletion - Frameshift(3)|Substitution - Missense(1)	p.0?(1112)|p.?(23)|p.L32_L37del(6)|p.A36T(3)|p.G35fs*13(1)|p.V28_V51del(1)|p.E33fs*8(1)|p.L37fs*6(1)|p.A36fs*8(1)	haematopoietic_and_lymphoid_tissue(278)|skin(170)|central_nervous_system(163)|lung(147)|urinary_tract(90)|bone(73)|soft_tissue(57)|oesophagus(54)|pleura(52)|upper_aerodigestive_tract(49)|ovary(34)|kidney(31)|pancreas(30)|breast(30)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM072934|CM994497	CDKN2A	M		c.(106-108)GCGfs		cyclin-dependent kinase inhibitor 2A isoform 1																																				SO:0001589	frameshift_variant	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21974720_21974721insC	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.107dupG	9.37:g.21974725_21974725dupC	ENSP00000307101:p.Ala36fs	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Frame_Shift_Ins_p.A36fs|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron	p.A36fs	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	318_319	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	36			ANK 1.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Ins	INS	ENST00000304494.5	37	c.106_107insG	CCDS6510.1																																																																																				0.728	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		32	113	NA	NA	NA	NA	32	113	---	---	---	---
ORM2	5005	broad.mit.edu	37	9	117092249	117092250	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CV-7248-01A-11D-2012-08	TCGA-CV-7248-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8ffc7f9d-16da-4cff-b845-f2ff8df87569	2d3f7bb7-7361-4710-a65a-2e7df5df9b7c	g.chr9:117092249_117092250delTG	ENST00000431067.2	+	1	101_102	c.65_66delTG	c.(64-66)ttgfs	p.L22fs	ORM2_ENST00000412657.1_Frame_Shift_Del_p.L22fs	NM_000608.2	NP_000599.1	P19652	A1AG2_HUMAN	orosomucoid 2	22					acute-phase response (GO:0006953)|regulation of immune system process (GO:0002682)|transport (GO:0006810)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7		Myeloproliferative disorder(63;0.163)			Chlorpromazine(DB00477)|Oxycodone(DB00497)|Thalidomide(DB01041)	CAGATCCCATTGTGTGCCAACC	0.624																																					NSCLC(65;867 1308 1814 2391 12508)	uc004bil.2		NA																	0					0						c.(64-66)TTGfs		orosomucoid 2 precursor																																				SO:0001589	frameshift_variant	5005				acute-phase response|regulation of immune system process|transport	extracellular space	binding	g.chr9:117092249_117092250delTG		CCDS6804.1	9q32	2013-09-19			ENSG00000228278	ENSG00000228278		"""Lipocalins"""	8499	protein-coding gene	gene with protein product	"""alpha-1-acid glycoprotein, type 2"""	138610				4711474, 2970990	Standard	NM_000608		Approved	AGP-B, AGP-B', AGP2		P19652	OTTHUMG00000021014	ENST00000431067.2:c.65_66delTG	9.37:g.117092253_117092254delTG	ENSP00000394936:p.Leu22fs					ORM1_uc011lxo.1_Intron	p.L22fs	NM_000608	NP_000599	P19652	A1AG2_HUMAN			1	181_182	+		Myeloproliferative disorder(63;0.163)	22					B2R5L2|Q16571|Q5T538|Q6IB74	Frame_Shift_Del	DEL	ENST00000431067.2	37	c.65_66delTG	CCDS6804.1																																																																																				0.624	ORM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055432.1	NM_000608		6	13	NA	NA	NA	NA	6	13	---	---	---	---
