#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	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ERLIN2	11160	broad.mit.edu	37	8	37611003	37611003	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr8:37611003G>C	ENST00000276461.5	+	11	842	c.775G>C	c.(775-777)Gat>Cat	p.D259H	ERLIN2_ENST00000519638.1_Missense_Mutation_p.D259H	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	259	Interaction with ERLIN1.				cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GGCAAAGGCAGATGCTGAGTG	0.498																																						ENST00000276461.5																			0				NS(1)|large_intestine(1)|lung(5)	7						c.(775-777)Gat>Cat		ER lipid raft associated 2							63.0	57.0	59.0					8																	37611003		2203	4300	6503	SO:0001583	missense	11160				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding	g.chr8:37611003G>C	AY358108	CCDS6095.1, CCDS34879.1	8p11.2	2012-11-23	2007-01-26	2007-01-26	ENSG00000147475	ENSG00000147475			1356	protein-coding gene	gene with protein product		611605	"""chromosome 8 open reading frame 2"", ""SPFH domain family, member 2"""	C8orf2, SPFH2, Erlin-2		10449903, 15897872, 16835267	Standard	NM_007175		Approved	NET32, SPG18	uc003xke.4	O94905	OTTHUMG00000164005	ENST00000276461.5:c.775G>C	8.37:g.37611003G>C	ENSP00000276461:p.Asp259His					ERLIN2_ENST00000519638.1_Missense_Mutation_p.D259H	p.D259H	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		11	842	+		Lung NSC(58;0.174)	259			Interaction with ERLIN1.		A0JLQ1|A8K5S9|B4DM38|D3DSW0|Q6NW21|Q86VS6|Q86W49	Missense_Mutation	SNP	ENST00000276461.5	37	c.775G>C	CCDS6095.1	.	.	.	.	.	.	.	.	.	.	G	32	5.149903	0.94645	.	.	ENSG00000147475	ENST00000276461;ENST00000521644;ENST00000519638	T;T;T	0.69685	-0.42;-0.42;-0.42	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.84620	0.5512	M	0.84683	2.71	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.84430	0.0576	10	0.51188	T	0.08	-30.1351	20.4135	0.99023	0.0:0.0:1.0:0.0	.	259	O94905	ERLN2_HUMAN	H	259	ENSP00000276461:D259H;ENSP00000429621:D259H;ENSP00000428112:D259H	ENSP00000276461:D259H	D	+	1	0	ERLIN2	37730161	1.000000	0.71417	0.711000	0.30485	0.892000	0.51952	9.869000	0.99810	2.835000	0.97688	0.591000	0.81541	GAT		0.498	ERLIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376712.2	NM_007175		3	54	0	0	0	0.150653	0	3	54				
PKHD1	5314	broad.mit.edu	37	6	51612955	51612955	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr6:51612955A>C	ENST00000371117.3	-	58	9734	c.9459T>G	c.(9457-9459)ttT>ttG	p.F3153L	PKHD1_ENST00000340994.4_Missense_Mutation_p.F3153L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3153					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CACCATAGTCAAAGTTCTTGA	0.408																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(9457-9459)ttT>ttG		polycystic kidney and hepatic disease 1 (autosomal recessive)							171.0	183.0	179.0					6																	51612955		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51612955A>C	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.9459T>G	6.37:g.51612955A>C	ENSP00000360158:p.Phe3153Leu					PKHD1_ENST00000340994.4_Missense_Mutation_p.F3153L	p.F3153L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			58	9734	-	Lung NSC(77;0.0605)		3153					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.9459T>G	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	A	19.16	3.774468	0.70107	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.79454	-1.27;-1.27	5.86	4.71	0.59529	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.152670	0.47093	D	0.000256	T	0.65344	0.2682	M	0.63428	1.95	0.36792	D	0.884902	P;P;P	0.44281	0.711;0.663;0.831	B;B;B	0.44085	0.356;0.403;0.44	T	0.64943	-0.6288	10	0.29301	T	0.29	.	11.1111	0.48232	0.9281:0.0:0.0719:0.0	.	3153;3153;3153	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	L	3153	ENSP00000360158:F3153L;ENSP00000341097:F3153L	ENSP00000341097:F3153L	F	-	3	2	PKHD1	51720914	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.933000	0.40153	1.050000	0.40346	0.533000	0.62120	TTT		0.408	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		16	209	0	0	0	0.146539	0	16	209				
RNF103	7844	broad.mit.edu	37	2	86847496	86847496	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr2:86847496T>C	ENST00000237455.4	-	2	1291	c.323A>G	c.(322-324)tAt>tGt	p.Y108C	AC015971.2_ENST00000424788.1_RNA|RNF103-CHMP3_ENST00000604011.1_Missense_Mutation_p.Y30C|RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000439077.1_RNA|CHMP3_ENST00000439940.2_Missense_Mutation_p.Y30C	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	108					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						CACAAGCTCATAGAAGTGCAT	0.403																																						ENST00000237455.4																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						c.(322-324)tAt>tGt		ring finger protein 103							106.0	104.0	104.0					2																	86847496		2203	4300	6503	SO:0001583	missense	7844				central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:86847496T>C	D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"""RING-type (C3HC4) zinc fingers"""	12859	protein-coding gene	gene with protein product		602507	"""zinc finger protein 103 homolog (mouse)"""	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.323A>G	2.37:g.86847496T>C	ENSP00000237455:p.Tyr108Cys					RNF103_ENST00000477307.1_5'UTR|RNF103-CHMP3_ENST00000604011.1_Missense_Mutation_p.Y30C|CHMP3_ENST00000439940.2_Missense_Mutation_p.Y30C	p.Y108C	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN			2	1291	-			108					A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Missense_Mutation	SNP	ENST00000237455.4	37	c.323A>G	CCDS33237.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.587978	0.86851	.	.	ENSG00000115561;ENSG00000249884;ENSG00000239305	ENST00000439940;ENST00000440757;ENST00000237455	D;T;T	0.94650	-3.48;-1.41;0.77	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.96488	0.8854	L	0.60455	1.87	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.993;0.995	D	0.97000	0.9728	10	0.87932	D	0	-15.8084	16.27	0.82612	0.0:0.0:0.0:1.0	.	30;108	Q9Y3E7-3;O00237	.;RN103_HUMAN	C	30;108;108	ENSP00000405575:Y30C;ENSP00000392995:Y108C;ENSP00000237455:Y108C	ENSP00000237455:Y108C	Y	-	2	0	RNF103;VPS24;RNF103-VPS24	86701007	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.396000	0.79891	2.248000	0.74166	0.533000	0.62120	TAT		0.403	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2	NM_005667		11	71	0	0	0	0.080935	0	11	71				
FBXO38	81545	broad.mit.edu	37	5	147796680	147796680	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr5:147796680A>C	ENST00000340253.5	+	12	1699	c.1531A>C	c.(1531-1533)Aac>Cac	p.N511H	FBXO38_ENST00000296701.6_Missense_Mutation_p.N511H|FBXO38_ENST00000513826.1_Missense_Mutation_p.N511H|FBXO38_ENST00000394370.3_Missense_Mutation_p.N511H			Q6PIJ6	FBX38_HUMAN	F-box protein 38	511					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCACGACAACAATCACCA	0.473																																						ENST00000340253.5																		ATG4C/FBXO38(2)	0				NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51						c.(1531-1533)Aac>Cac		F-box protein 38							165.0	137.0	146.0					5																	147796680		2203	4300	6503	SO:0001583	missense	81545					cytoplasm|nucleus		g.chr5:147796680A>C	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.1531A>C	5.37:g.147796680A>C	ENSP00000342023:p.Asn511His					FBXO38_ENST00000513826.1_Missense_Mutation_p.N511H|FBXO38_ENST00000296701.6_Missense_Mutation_p.N511H|FBXO38_ENST00000394370.3_Missense_Mutation_p.N511H	p.N511H			Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		12	1699	+			511					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	ENST00000340253.5	37	c.1531A>C		.	.	.	.	.	.	.	.	.	.	A	19.19	3.779461	0.70107	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.34472	1.36;1.38;1.36;1.38	5.52	4.32	0.51571	.	0.190814	0.53938	N	0.000051	T	0.40473	0.1118	L	0.29908	0.895	0.53005	D	0.999964	B;D;B	0.58620	0.004;0.983;0.004	B;P;B	0.58331	0.004;0.837;0.008	T	0.13282	-1.0515	10	0.40728	T	0.16	-13.4357	10.9619	0.47389	0.8429:0.157:0.0:0.0	.	511;511;511	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	H	511	ENSP00000342023:N511H;ENSP00000296701:N511H;ENSP00000377895:N511H;ENSP00000426410:N511H	ENSP00000296701:N511H	N	+	1	0	FBXO38	147776873	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.792000	0.55476	0.980000	0.38523	0.383000	0.25322	AAC		0.473	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		12	31	0	0	0	0.080935	0	12	31				
ZC3H7B	23264	broad.mit.edu	37	22	41735080	41735080	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr22:41735080T>G	ENST00000352645.4	+	9	958	c.701T>G	c.(700-702)cTg>cGg	p.L234R	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.L234R	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	250					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CCTCACGTTCTGGACCTGCTG	0.667																																						ENST00000352645.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(700-702)cTg>cGg		zinc finger CCCH-type containing 7B							108.0	99.0	102.0					22																	41735080		2203	4300	6503	SO:0001583	missense	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41735080T>G		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.701T>G	22.37:g.41735080T>G	ENSP00000345793:p.Leu234Arg					ZC3H7B_ENST00000351589.4_Missense_Mutation_p.L234R	p.L234R	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN			9	958	+			250					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Missense_Mutation	SNP	ENST00000352645.4	37	c.701T>G	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	T	12.26	1.885471	0.33255	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.12879	2.64;2.64	4.21	3.11	0.35812	.	0.385071	0.24544	N	0.037601	T	0.10380	0.0254	L	0.50333	1.59	0.32701	N	0.512889	B	0.29037	0.231	B	0.24394	0.053	T	0.08827	-1.0703	10	0.49607	T	0.09	-13.9733	2.9525	0.05866	0.3618:0.1216:0.0:0.5166	.	234	Q9UGR2-2	.	R	234	ENSP00000345793:L234R;ENSP00000263243:L234R	ENSP00000263243:L234R	L	+	2	0	ZC3H7B	40065026	0.941000	0.31946	1.000000	0.80357	0.974000	0.67602	1.391000	0.34475	1.760000	0.52011	0.459000	0.35465	CTG		0.667	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		64	133	0	0	0	0.139131	0	64	133				
IQGAP1	8826	broad.mit.edu	37	15	91040570	91040570	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr15:91040570C>T	ENST00000268182.5	+	37	4982	c.4858C>T	c.(4858-4860)Cag>Tag	p.Q1620*	IQGAP1_ENST00000560738.1_Nonsense_Mutation_p.Q1048*	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1620	C2.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GTTACATTATCAGGTGGGTAT	0.388																																						ENST00000268182.5																			0				breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(4858-4860)Cag>Tag		IQ motif containing GTPase activating protein 1							50.0	49.0	49.0					15																	91040570		2198	4298	6496	SO:0001587	stop_gained	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91040570C>T	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.4858C>T	15.37:g.91040570C>T	ENSP00000268182:p.Gln1620*					IQGAP1_ENST00000560738.1_Nonsense_Mutation_p.Q1048*	p.Q1620*	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		37	4982	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		1620			C2.		A7MBM3	Nonsense_Mutation	SNP	ENST00000268182.5	37	c.4858C>T	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	C	42	9.806349	0.99268	.	.	ENSG00000140575	ENST00000268182	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-25.8823	19.6321	0.95713	0.0:1.0:0.0:0.0	.	.	.	.	X	1620	.	ENSP00000268182:Q1620X	Q	+	1	0	IQGAP1	88841574	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.658000	0.83755	2.884000	0.98904	0.655000	0.94253	CAG		0.388	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		14	29	0	0	0	0.105934	0	14	29				
FRG1B	284802	broad.mit.edu	37	20	29633899	29633899	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr20:29633899G>A	ENST00000278882.3	+	9	918	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	FRG1B_ENST00000358464.4_Splice_Site_p.E180K			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	180										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TTAAACAAGAGAACCAAATTG	0.269																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.e9-1																																						SO:0001630	splice_region_variant	0							g.chr20:29633899G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.537-1G>A	20.37:g.29633899G>A						FRG1B_ENST00000358464.4_Splice_Site_p.E180_splice	p.E180_splice							9	918	+								C4AME5	Splice_Site	SNP	ENST00000278882.3	37	c.536_splice		.	.	.	.	.	.	.	.	.	.	g	9.008	0.981734	0.18812	.	.	ENSG00000149531	ENST00000278882;ENST00000358464	.	.	.	1.62	1.62	0.23740	.	.	.	.	.	T	0.44008	0.1273	.	.	.	0.23758	N	0.996927	.	.	.	.	.	.	T	0.39231	-0.9624	5	0.72032	D	0.01	.	9.2539	0.37571	0.0:0.0:1.0:0.0	.	.	.	.	K	180	.	ENSP00000278882:E180K	E	+	1	0	FRG1B	28247560	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	7.782000	0.85680	1.206000	0.43276	0.502000	0.49764	GAA		0.269	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	Missense_Mutation	3	40	0	0	0	0.150653	0	3	40				
MN1	4330	broad.mit.edu	37	22	28196380	28196380	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr22:28196380G>A	ENST00000302326.4	-	1	1106	c.152C>T	c.(151-153)gCt>gTt	p.A51V		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	51					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CGCGCTCATAGCAGGATCCAC	0.647			T	ETV6	"""AML, meningioma"""																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		"""AML, meningioma"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(151-153)gCt>gTt		meningioma (disrupted in balanced translocation) 1							55.0	62.0	60.0					22																	28196380		1912	4117	6029	SO:0001583	missense	4330						binding	g.chr22:28196380G>A	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.152C>T	22.37:g.28196380G>A	ENSP00000304956:p.Ala51Val						p.A51V	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	1106	-			51					A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	c.152C>T	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830427	0.50845	.	.	ENSG00000169184	ENST00000302326	T	0.72505	-0.66	4.74	3.69	0.42338	.	0.134339	0.49916	D	0.000132	T	0.56352	0.1979	N	0.19112	0.55	0.30923	N	0.727811	B	0.22414	0.069	B	0.21360	0.034	T	0.60255	-0.7299	10	0.59425	D	0.04	-8.1729	13.6175	0.62118	0.0:0.1574:0.8426:0.0	.	51	Q10571	MN1_HUMAN	V	51	ENSP00000304956:A51V	ENSP00000304956:A51V	A	-	2	0	MN1	26526380	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	3.083000	0.50136	1.057000	0.40506	0.462000	0.41574	GCT		0.647	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		6	81	0	0	0	0.029380	0	6	81				
MGAT5B	146664	broad.mit.edu	37	17	74928777	74928777	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr17:74928777G>A	ENST00000569840.2	+	11	1916	c.1342G>A	c.(1342-1344)Gag>Aag	p.E448K	MGAT5B_ENST00000428789.2_Missense_Mutation_p.E459K|MGAT5B_ENST00000301618.4_Missense_Mutation_p.E448K	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	448					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGAGCTCAACGAGACGGAGAA	0.627																																						ENST00000569840.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1342-1344)Gag>Aag		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B							103.0	88.0	93.0					17																	74928777		2203	4300	6503	SO:0001583	missense	146664					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr17:74928777G>A	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.1342G>A	17.37:g.74928777G>A	ENSP00000456037:p.Glu448Lys					MGAT5B_ENST00000301618.4_Missense_Mutation_p.E448K|MGAT5B_ENST00000428789.2_Missense_Mutation_p.E459K	p.E448K	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN			11	1916	+			448					Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	37	c.1342G>A	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	G	9.749	1.166984	0.21621	.	.	ENSG00000167889	ENST00000301618;ENST00000428789	T;T	0.42513	0.98;0.97	4.29	3.2	0.36748	.	0.544240	0.17737	N	0.163692	T	0.17109	0.0411	N	0.12961	0.28	0.37894	D	0.93082	B;P	0.46656	0.259;0.882	B;B	0.33890	0.063;0.172	T	0.08330	-1.0727	10	0.09843	T	0.71	-18.128	7.833	0.29353	0.0:0.173:0.653:0.174	.	459;448	Q3V5L5-2;Q3V5L5-5	.;.	K	448;459	ENSP00000301618:E448K;ENSP00000391227:E459K	ENSP00000301618:E448K	E	+	1	0	MGAT5B	72440372	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.811000	0.38942	1.910000	0.55303	0.462000	0.41574	GAG		0.627	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677		6	93	0	0	0	0.029380	0	6	93				
CAMSAP3	57662	broad.mit.edu	37	19	7682254	7682254	+	Silent	SNP	T	T	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr19:7682254T>C	ENST00000160298.4	+	15	3356	c.3255T>C	c.(3253-3255)ccT>ccC	p.P1085P	CAMSAP3_ENST00000446248.2_Silent_p.P1112P	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	1085					epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GCCGCCTGCCTGGAAGCCGCG	0.637																																						ENST00000446248.2																			0				cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						c.(3334-3336)ccT>ccC		calmodulin regulated spectrin-associated protein family, member 3							66.0	75.0	72.0					19																	7682254		2036	4181	6217	SO:0001819	synonymous_variant	57662				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	g.chr19:7682254T>C	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.3255T>C	19.37:g.7682254T>C						CAMSAP3_ENST00000160298.4_Silent_p.P1085P	p.P1112P	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN			17	3437	+			1085			CKK.		Q8NDF1	Silent	SNP	ENST00000160298.4	37	c.3336T>C	CCDS42489.1																																																																																				0.637	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362		4	68	0	0	0	0.014758	0	4	68				
SPTB	6710	broad.mit.edu	37	14	65246524	65246524	+	Silent	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr14:65246524C>T	ENST00000389721.5	-	20	4424	c.4392G>A	c.(4390-4392)ctG>ctA	p.L1464L	SPTB_ENST00000542895.1_Silent_p.L1464L|SPTB_ENST00000389720.3_Silent_p.L1464L|SPTB_ENST00000556626.1_Silent_p.L1464L|SPTB_ENST00000389722.3_Silent_p.L1464L	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1464					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTAGGGGTTCCAGGAGGTCCA	0.582																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(4390-4392)ctG>ctA		spectrin, beta, erythrocytic							142.0	133.0	136.0					14																	65246524		2203	4300	6503	SO:0001819	synonymous_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65246524C>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.4392G>A	14.37:g.65246524C>T						SPTB_ENST00000542895.1_Silent_p.L1464L|SPTB_ENST00000389720.3_Silent_p.L1464L|SPTB_ENST00000389721.5_Silent_p.L1464L|SPTB_ENST00000556626.1_Silent_p.L1464L	p.L1464L	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	20	4445	-		all_lung(585;4.15e-09)	1464					Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	c.4392G>A	CCDS32100.1																																																																																				0.582	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			6	133	0	0	0	0.021553	0	6	133				
CHGB	1114	broad.mit.edu	37	20	5897548	5897548	+	Missense_Mutation	SNP	G	G	A	rs139177513		TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr20:5897548G>A	ENST00000378961.4	+	3	377	c.173G>A	c.(172-174)cGc>cAc	p.R58H	CHGB_ENST00000488832.1_3'UTR	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	58						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CCTGAGTGCCGCCAAGTCCTG	0.552																																						ENST00000378961.4																			0				breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						c.(172-174)cGc>cAc		chromogranin B (secretogranin 1)		G	HIS/ARG	0,4406		0,0,2203	123.0	94.0	104.0		173	5.8	1.0	20	dbSNP_134	104	3,8597	3.0+/-9.4	0,3,4297	yes	missense	CHGB	NM_001819.2	29	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	58/678	5897548	3,13003	2203	4300	6503	SO:0001583	missense	1114					extracellular region	hormone activity	g.chr20:5897548G>A		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.173G>A	20.37:g.5897548G>A	ENSP00000368244:p.Arg58His					CHGB_ENST00000488832.1_3'UTR	p.R58H	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN			3	377	+			58					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	ENST00000378961.4	37	c.173G>A	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377352	0.82682	0.0	3.49E-4	ENSG00000089199	ENST00000378961;ENST00000455042	T;T	0.01947	4.54;4.54	5.79	5.79	0.91817	.	0.156902	0.42420	D	0.000716	T	0.10809	0.0264	M	0.71581	2.175	0.32531	N	0.534965	D	0.89917	1.0	D	0.85130	0.997	T	0.01015	-1.1480	10	0.72032	D	0.01	-16.1753	11.3624	0.49651	0.1143:0.0:0.8857:0.0	.	58	P05060	SCG1_HUMAN	H	58;38	ENSP00000368244:R58H;ENSP00000416643:R38H	ENSP00000368244:R58H	R	+	2	0	CHGB	5845548	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	2.571000	0.45990	2.735000	0.93741	0.655000	0.94253	CGC		0.552	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		20	88	0	0	0	0.055883	0	20	88				
PCSK2	5126	broad.mit.edu	37	20	17436993	17436993	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr20:17436993G>A	ENST00000262545.2	+	10	1417	c.1102G>A	c.(1102-1104)Gca>Aca	p.A368T	PCSK2_ENST00000377899.1_Splice_Site_p.A349T|PCSK2_ENST00000536609.1_Splice_Site_p.A333T	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	368	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TCCCTTCCAGGCAACCACAGA	0.488																																						ENST00000262545.2																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.e10-1		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						174.0	177.0	176.0					20																	17436993		2203	4300	6503	SO:0001630	splice_region_variant	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17436993G>A	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1102-1G>A	20.37:g.17436993G>A						PCSK2_ENST00000377899.1_Splice_Site_p.A349_splice|PCSK2_ENST00000536609.1_Splice_Site_p.A333_splice	p.A368_splice	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN			10	1417	+			368			Catalytic.		B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Splice_Site	SNP	ENST00000262545.2	37	c.1101_splice	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745842	0.89663	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	D;D;D	0.87571	-2.27;-2.27;-2.27	5.93	5.93	0.95920	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.044281	0.85682	N	0.000000	D	0.89312	0.6679	L	0.33624	1.015	0.80722	D	1	P;B	0.46578	0.88;0.132	P;B	0.59546	0.859;0.16	D	0.86973	0.2099	9	.	.	.	-17.9808	18.8972	0.92429	0.0:0.0:1.0:0.0	.	333;368	B4DFQ3;P16519	.;NEC2_HUMAN	T	349;368;333	ENSP00000367131:A349T;ENSP00000262545:A368T;ENSP00000437458:A333T	.	A	+	1	0	PCSK2	17384993	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.911000	0.87458	2.818000	0.97014	0.591000	0.81541	GCA		0.488	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594	Missense_Mutation	15	180	0	0	0	0.132662	0	15	180				
AXIN2	8313	broad.mit.edu	37	17	63553974	63553974	+	Silent	SNP	C	C	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr17:63553974C>G	ENST00000375702.5	-	1	873	c.765G>C	c.(763-765)ctG>ctC	p.L255L	AXIN2_ENST00000307078.5_Silent_p.L255L|CTD-2535L24.2_ENST00000577662.1_3'UTR			Q9Y2T1	AXIN2_HUMAN	axin 2	255					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						CCGTGGCCCTCAGAGTTTTGC	0.547									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													ENST00000307078.5																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(763-765)ctG>ctC		axin 2							84.0	80.0	81.0					17																	63553974		2203	4300	6503	SO:0001819	synonymous_variant	8313	Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63553974C>G	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.765G>C	17.37:g.63553974C>G						CTD-2535L24.2_ENST00000577662.1_3'UTR|AXIN2_ENST00000375702.5_Silent_p.L255L	p.L255L	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN			2	1078	-			255					Q3MJ88|Q9H3M6|Q9UH84	Silent	SNP	ENST00000375702.5	37	c.765G>C																																																																																					0.547	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		5	98	0	0	0	0.038147	0	5	98				
ERLIN2	11160	broad.mit.edu	37	8	37602094	37602094	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr8:37602094G>A	ENST00000276461.5	+	6	371	c.304G>A	c.(304-306)Gat>Aat	p.D102N	ERLIN2_ENST00000518586.1_Missense_Mutation_p.D102N|ERLIN2_ENST00000335171.6_Missense_Mutation_p.D102N|ERLIN2_ENST00000523887.1_Missense_Mutation_p.D102N|ERLIN2_ENST00000523107.1_Missense_Mutation_p.D102N|ERLIN2_ENST00000397228.2_Missense_Mutation_p.D102N|ERLIN2_ENST00000519638.1_Missense_Mutation_p.D102N	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	102					cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CTCAGTGTATGATATAGTGAA	0.478																																						ENST00000276461.5																			0				NS(1)|large_intestine(1)|lung(5)	7						c.(304-306)Gat>Aat		ER lipid raft associated 2							126.0	115.0	119.0					8																	37602094		2203	4300	6503	SO:0001583	missense	11160				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding	g.chr8:37602094G>A	AY358108	CCDS6095.1, CCDS34879.1	8p11.2	2012-11-23	2007-01-26	2007-01-26	ENSG00000147475	ENSG00000147475			1356	protein-coding gene	gene with protein product		611605	"""chromosome 8 open reading frame 2"", ""SPFH domain family, member 2"""	C8orf2, SPFH2, Erlin-2		10449903, 15897872, 16835267	Standard	NM_007175		Approved	NET32, SPG18	uc003xke.4	O94905	OTTHUMG00000164005	ENST00000276461.5:c.304G>A	8.37:g.37602094G>A	ENSP00000276461:p.Asp102Asn					ERLIN2_ENST00000519638.1_Missense_Mutation_p.D102N|ERLIN2_ENST00000397228.2_Missense_Mutation_p.D102N|ERLIN2_ENST00000335171.6_Missense_Mutation_p.D102N|ERLIN2_ENST00000523107.1_Missense_Mutation_p.D102N|ERLIN2_ENST00000523887.1_Missense_Mutation_p.D102N|ERLIN2_ENST00000518586.1_Missense_Mutation_p.D102N	p.D102N	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		6	371	+		Lung NSC(58;0.174)	102					A0JLQ1|A8K5S9|B4DM38|D3DSW0|Q6NW21|Q86VS6|Q86W49	Missense_Mutation	SNP	ENST00000276461.5	37	c.304G>A	CCDS6095.1	.	.	.	.	.	.	.	.	.	.	G	36	5.817997	0.96982	.	.	ENSG00000147475	ENST00000397228;ENST00000518526;ENST00000523887;ENST00000276461;ENST00000518586;ENST00000335171;ENST00000521644;ENST00000519638	D;D;D;D;D;D;D;D	0.94457	-3.43;-3.43;-3.43;-3.43;-3.43;-3.43;-3.43;-3.43	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.96327	0.8802	M	0.69358	2.11	0.80722	D	1	D;D;B	0.69078	0.997;0.996;0.138	D;D;B	0.80764	0.994;0.956;0.073	D	0.91992	0.5604	10	0.02654	T	1	-29.5069	20.8598	0.99761	0.0:0.0:1.0:0.0	.	102;102;102	O94905;O94905-3;O94905-2	ERLN2_HUMAN;.;.	N	102;59;102;102;102;102;102;102	ENSP00000380405:D102N;ENSP00000429229:D59N;ENSP00000429903:D102N;ENSP00000276461:D102N;ENSP00000427847:D102N;ENSP00000335220:D102N;ENSP00000429621:D102N;ENSP00000428112:D102N	ENSP00000276461:D102N	D	+	1	0	ERLIN2	37721252	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	9.858000	0.99539	2.937000	0.99478	0.650000	0.86243	GAT		0.478	ERLIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376712.2	NM_007175		11	115	0	0	0	0.105934	0	11	115				
SCN1A	6323	broad.mit.edu	37	2	166859166	166859166	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr2:166859166T>C	ENST00000303395.4	-	21	4099	c.4100A>G	c.(4099-4101)aAt>aGt	p.N1367S	SCN1A_ENST00000423058.2_Missense_Mutation_p.N1367S|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.N1356S|SCN1A_ENST00000409050.1_Missense_Mutation_p.N1339S			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1367			N -> K (in EIEE6; dbSNP:rs121918760). {ECO:0000269|PubMed:20522430}.		adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGCAAACAAATTTACGCCCAT	0.388																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(4099-4101)aAt>aGt		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						96.0	95.0	95.0					2																	166859166		2203	4299	6502	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166859166T>C	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.4100A>G	2.37:g.166859166T>C	ENSP00000303540:p.Asn1367Ser					SCN1A_ENST00000375405.3_Missense_Mutation_p.N1356S|SCN1A_ENST00000303395.4_Missense_Mutation_p.N1367S|SCN1A_ENST00000409050.1_Missense_Mutation_p.N1339S|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA	p.N1367S	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			21	4117	-			1367		N -> K (in SMEI; dbSNP:rs121918760).			E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.4100A>G	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.238904	0.79800	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98381	-4.9;-4.9;-4.9;-4.9	5.54	5.54	0.83059	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98807	0.9598	M	0.78801	2.425	0.58432	D	0.999998	D;D;D	0.69078	0.984;0.997;0.972	P;D;P	0.80764	0.801;0.994;0.874	D	0.99837	1.1058	10	0.66056	D	0.02	.	15.9597	0.79918	0.0:0.0:0.0:1.0	.	1356;1339;1367	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	S	1367;1367;1356;1339	ENSP00000407030:N1367S;ENSP00000303540:N1367S;ENSP00000364554:N1356S;ENSP00000386312:N1339S	ENSP00000303540:N1367S	N	-	2	0	SCN1A	166567412	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.994000	0.88315	2.226000	0.72624	0.482000	0.46254	AAT		0.388	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		6	68	0	0	0	0.029380	0	6	68				
TTN	7273	broad.mit.edu	37	2	179605764	179605764	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr2:179605764C>G	ENST00000591111.1	-	46	11469	c.11245G>C	c.(11245-11247)Gac>Cac	p.D3749H	TTN_ENST00000359218.5_Missense_Mutation_p.D3828H|TTN_ENST00000460472.2_Missense_Mutation_p.D3703H|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D4066H|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D3895H			Q8WZ42	TITIN_HUMAN	titin	33913					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)			TGCTCTGAGTCAAGTGCTTCA	0.438																																						ENST00000589042.1																			0				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						c.(12196-12198)Gac>Cac		titin							155.0	150.0	151.0					2																	179605764		1851	4106	5957	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179605764C>G	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.11245G>C	2.37:g.179605764C>G	ENSP00000465570:p.Asp3749His					TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D3703H|TTN_ENST00000591111.1_Missense_Mutation_p.D3749H|TTN_ENST00000359218.5_Missense_Mutation_p.D3828H|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.D3895H|TTN-AS1_ENST00000590773.1_RNA	p.D4066H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		48	12420	-			3749					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.12196G>C		.	.	.	.	.	.	.	.	.	.	C	2.663	-0.279289	0.05642	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.63580	0.06;-0.05;-0.02	5.61	2.68	0.31781	.	.	.	.	.	T	0.46560	0.1399	L	0.27053	0.805	0.09310	N	1	B;B;B	0.22480	0.07;0.07;0.07	B;B;B	0.28638	0.05;0.05;0.092	T	0.44711	-0.9310	9	0.87932	D	0	.	3.7297	0.08488	0.1382:0.5794:0.1338:0.1486	.	3703;3828;3895	D3DPF9;E7EQE6;E7ET18	.;.;.	H	3703;3895;3828;3703	ENSP00000434586:D3703H;ENSP00000340554:D3895H;ENSP00000352154:D3828H	ENSP00000340554:D3895H	D	-	1	0	TTN	179314009	0.000000	0.05858	0.036000	0.18154	0.076000	0.17211	0.329000	0.19698	0.843000	0.35070	-0.150000	0.13652	GAC		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		48	132	0	0	0	0.139131	0	48	132				
CFAP46	54777	broad.mit.edu	37	10	134622066	134622066	+	Silent	SNP	C	C	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr10:134622066C>G	ENST00000368586.5	-	58	8107	c.8007G>C	c.(8005-8007)ctG>ctC	p.L2669L	TTC40_ENST00000263170.5_Silent_p.L830L	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						ATGGCGCACACAGGCAGGCAG	0.706																																						ENST00000368586.5																			0				breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						c.(8005-8007)ctG>ctC		tetratricopeptide repeat domain 40							28.0	34.0	32.0					10																	134622066		2202	4298	6500	SO:0001819	synonymous_variant	54777							g.chr10:134622066C>G																												ENST00000368586.5:c.8007G>C	10.37:g.134622066C>G						TTC40_ENST00000263170.5_Silent_p.L830L	p.L2669L	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN			58	8107	-			830						Silent	SNP	ENST00000368586.5	37	c.8007G>C	CCDS58101.1																																																																																				0.706	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3			11	52	0	0	0	0.069234	0	11	52				
KCNA6	3742	broad.mit.edu	37	12	4919943	4919943	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr12:4919943G>A	ENST00000280684.3	+	1	1602	c.736G>A	c.(736-738)Ggg>Agg	p.G246R	KCNA6_ENST00000433855.1_Missense_Mutation_p.G246R|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	246					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	AATGGGGACCGGGGGCTCCTC	0.547										HNSCC(72;0.22)																												ENST00000433855.1																			0				NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						c.(736-738)Ggg>Agg		potassium voltage-gated channel, shaker-related subfamily, member 6							89.0	96.0	94.0					12																	4919943		2203	4300	6503	SO:0001583	missense	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4919943G>A	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.736G>A	12.37:g.4919943G>A	ENSP00000280684:p.Gly246Arg	HNSCC(72;0.22)				KCNA6_ENST00000280684.3_Missense_Mutation_p.G246R	p.G246R	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN			1	1602	+			246						Missense_Mutation	SNP	ENST00000280684.3	37	c.736G>A	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	G	0.902	-0.722042	0.03182	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.97232	-4.3;-4.3	4.97	4.08	0.47627	.	.	.	.	.	D	0.92509	0.7621	L	0.40543	1.245	0.09310	N	0.999997	B	0.06786	0.001	B	0.04013	0.001	T	0.81393	-0.0953	9	0.09590	T	0.72	.	5.2312	0.15422	0.1811:0.1859:0.633:0.0	.	246	P17658	KCNA6_HUMAN	R	246	ENSP00000408321:G246R;ENSP00000280684:G246R	ENSP00000280684:G246R	G	+	1	0	KCNA6	4790204	0.971000	0.33674	0.051000	0.19133	0.004000	0.04260	2.982000	0.49337	1.318000	0.45170	0.655000	0.94253	GGG		0.547	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		5	113	0	0	0	0.029380	0	5	113				
RHOJ	57381	broad.mit.edu	37	14	63671716	63671716	+	Silent	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr14:63671716C>T	ENST00000316754.3	+	1	591	c.129C>T	c.(127-129)aaC>aaT	p.N43N	RHOJ_ENST00000555125.1_Silent_p.N43N|RHOJ_ENST00000557133.1_3'UTR	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	43					actin cytoskeleton organization (GO:0030036)|GTP catabolic process (GO:0006184)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		GCTACGCCAACGACGCCTTCC	0.572																																						ENST00000316754.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21						c.(127-129)aaC>aaT		ras homolog family member J							131.0	103.0	112.0					14																	63671716		2203	4300	6503	SO:0001819	synonymous_variant	57381				actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity	g.chr14:63671716C>T	AK027351	CCDS9757.1	14q23.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000126785	ENSG00000126785			688	protein-coding gene	gene with protein product		607653	"""RAS-like, family 7, member B"", ""ras homolog gene family, member J"""	RASL7B, ARHJ		10967094	Standard	NM_020663		Approved	FLJ14445, TCL	uc001xgb.2	Q9H4E5	OTTHUMG00000140342	ENST00000316754.3:c.129C>T	14.37:g.63671716C>T						RHOJ_ENST00000557133.1_3'UTR|RHOJ_ENST00000555125.1_Silent_p.N43N	p.N43N	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)	1	591	+			43					Q96KC1	Silent	SNP	ENST00000316754.3	37	c.129C>T	CCDS9757.1																																																																																				0.572	RHOJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276975.3			7	50	0	0	0	0.047766	0	7	50				
ERLIN2	11160	broad.mit.edu	37	8	37602102	37602102	+	Silent	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr8:37602102G>A	ENST00000276461.5	+	6	379	c.312G>A	c.(310-312)gtG>gtA	p.V104V	ERLIN2_ENST00000518586.1_Silent_p.V104V|ERLIN2_ENST00000335171.6_Silent_p.V104V|ERLIN2_ENST00000523887.1_Silent_p.V104V|ERLIN2_ENST00000523107.1_Silent_p.V104V|ERLIN2_ENST00000397228.2_Silent_p.V104V|ERLIN2_ENST00000519638.1_Silent_p.V104V	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	104					cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			ATGATATAGTGAAGAACTATA	0.478																																						ENST00000276461.5																			0				NS(1)|large_intestine(1)|lung(5)	7						c.(310-312)gtG>gtA		ER lipid raft associated 2							127.0	114.0	119.0					8																	37602102		2203	4300	6503	SO:0001819	synonymous_variant	11160				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding	g.chr8:37602102G>A	AY358108	CCDS6095.1, CCDS34879.1	8p11.2	2012-11-23	2007-01-26	2007-01-26	ENSG00000147475	ENSG00000147475			1356	protein-coding gene	gene with protein product		611605	"""chromosome 8 open reading frame 2"", ""SPFH domain family, member 2"""	C8orf2, SPFH2, Erlin-2		10449903, 15897872, 16835267	Standard	NM_007175		Approved	NET32, SPG18	uc003xke.4	O94905	OTTHUMG00000164005	ENST00000276461.5:c.312G>A	8.37:g.37602102G>A						ERLIN2_ENST00000519638.1_Silent_p.V104V|ERLIN2_ENST00000397228.2_Silent_p.V104V|ERLIN2_ENST00000335171.6_Silent_p.V104V|ERLIN2_ENST00000523107.1_Silent_p.V104V|ERLIN2_ENST00000523887.1_Silent_p.V104V|ERLIN2_ENST00000518586.1_Silent_p.V104V	p.V104V	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		6	379	+		Lung NSC(58;0.174)	104					A0JLQ1|A8K5S9|B4DM38|D3DSW0|Q6NW21|Q86VS6|Q86W49	Silent	SNP	ENST00000276461.5	37	c.312G>A	CCDS6095.1																																																																																				0.478	ERLIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376712.2	NM_007175		10	120	0	0	0	0.093190	0	10	120				
ADCY8	114	broad.mit.edu	37	8	131916039	131916039	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr8:131916039A>T	ENST00000286355.5	-	7	3982	c.1890T>A	c.(1888-1890)gaT>gaA	p.D630E	ADCY8_ENST00000377928.3_Missense_Mutation_p.D630E	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	630					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCACGATATTATCAAAGGGCA	0.502										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(1888-1890)gaT>gaA		adenylate cyclase 8 (brain)							108.0	95.0	99.0					8																	131916039		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131916039A>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1890T>A	8.37:g.131916039A>T	ENSP00000286355:p.Asp630Glu	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Missense_Mutation_p.D630E	p.D630E	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		7	3982	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		630						Missense_Mutation	SNP	ENST00000286355.5	37	c.1890T>A	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	A	11.81	1.751091	0.31046	.	.	ENSG00000155897	ENST00000286355;ENST00000377928;ENST00000522949	T;T;T	0.79247	-0.98;-0.98;-1.25	6.08	3.65	0.41850	.	0.163770	0.56097	D	0.000021	T	0.52725	0.1752	N	0.04508	-0.205	0.33558	D	0.596932	P;B	0.36789	0.57;0.288	B;B	0.39503	0.301;0.1	T	0.58719	-0.7587	10	0.06625	T	0.88	.	8.6731	0.34163	0.832:0.0:0.168:0.0	.	630;630	E7EVL1;P40145	.;ADCY8_HUMAN	E	630;630;245	ENSP00000286355:D630E;ENSP00000367161:D630E;ENSP00000428010:D245E	ENSP00000286355:D630E	D	-	3	2	ADCY8	131985221	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	2.530000	0.45641	0.507000	0.28148	0.482000	0.46254	GAT		0.502	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			10	73	0	0	0	0.058154	0	10	73				
FLG2	388698	broad.mit.edu	37	1	152329230	152329230	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr1:152329230G>C	ENST00000388718.5	-	3	1104	c.1032C>G	c.(1030-1032)aaC>aaG	p.N344K	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	344	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTACAGGGGTTAGACTCAG	0.502																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(1030-1032)aaC>aaG		filaggrin family member 2							143.0	135.0	137.0					1																	152329230		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152329230G>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.1032C>G	1.37:g.152329230G>C	ENSP00000373370:p.Asn344Lys					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.N344K	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1104	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		344			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.1032C>G	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	0.064	-1.217554	0.01542	.	.	ENSG00000143520	ENST00000388718	T	0.16457	2.34	4.26	-5.98	0.02220	.	.	.	.	.	T	0.01454	0.0047	N	0.22421	0.69	0.09310	N	1	B	0.20671	0.047	B	0.17098	0.017	T	0.42916	-0.9423	9	0.06494	T	0.89	-1.0966	0.5999	0.00743	0.3296:0.1147:0.1896:0.3661	.	344	Q5D862	FILA2_HUMAN	K	344	ENSP00000373370:N344K	ENSP00000373370:N344K	N	-	3	2	FLG2	150595854	.	.	0.005000	0.12908	0.066000	0.16364	.	.	-1.315000	0.02297	0.650000	0.86243	AAC		0.502	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		10	139	0	0	0	0.080935	0	10	139				
ZEB1	6935	broad.mit.edu	37	10	31810040	31810040	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr10:31810040T>A	ENST00000320985.10	+	7	1887	c.1777T>A	c.(1777-1779)Ttg>Atg	p.L593M	ZEB1_ENST00000361642.5_Missense_Mutation_p.L594M|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.L526M|ZEB1_ENST00000560721.2_Missense_Mutation_p.L573M|ZEB1_ENST00000446923.2_Missense_Mutation_p.L577M			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	593					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAGAACCTCTTGTCTCTCCT	0.438																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77						c.(1729-1731)Ttg>Atg		zinc finger E-box binding homeobox 1							81.0	83.0	82.0					10																	31810040		2203	4300	6503	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31810040T>A	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.1777T>A	10.37:g.31810040T>A	ENSP00000319248:p.Leu593Met					ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000320985.10_Missense_Mutation_p.L593M|ZEB1_ENST00000542815.3_Missense_Mutation_p.L526M|ZEB1_ENST00000361642.5_Missense_Mutation_p.L594M|ZEB1_ENST00000560721.2_Missense_Mutation_p.L573M	p.L577M	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN			7	2120	+		Prostate(175;0.0156)	593					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.1729T>A	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	T	0.604	-0.827643	0.02734	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000543514;ENST00000446923	T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9	5.34	-1.66	0.08265	Homeodomain-related (1);Homeobox (2);	0.398232	0.18121	N	0.151028	T	0.77377	0.4121	L	0.53671	1.685	0.42150	D	0.991554	P;D;D;B;B;P;B;B	0.71674	0.723;0.996;0.998;0.332;0.373;0.883;0.332;0.332	B;D;D;B;B;P;B;B	0.68039	0.391;0.913;0.955;0.173;0.18;0.745;0.173;0.173	T	0.73694	-0.3902	10	0.14252	T	0.57	-5.5274	12.5131	0.56017	0.0:0.4493:0.0:0.5507	.	526;593;577;593;593;573;594;593	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	M	375;593;594;593;526;593;573;452;484;577	ENSP00000444282:L375M;ENSP00000354487:L594M;ENSP00000444891:L526M;ENSP00000319248:L593M;ENSP00000391612:L577M	ENSP00000319248:L593M	L	+	1	2	ZEB1	31850046	0.749000	0.28305	0.947000	0.38551	0.374000	0.29953	0.478000	0.22212	-0.124000	0.11724	0.533000	0.62120	TTG		0.438	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		8	84	0	0	0	0.047766	0	8	84				
RNF31	55072	broad.mit.edu	37	14	24618082	24618082	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr14:24618082C>A	ENST00000324103.6	+	5	948	c.628C>A	c.(628-630)Cca>Aca	p.P210T	RNF31_ENST00000382687.3_Missense_Mutation_p.P59T|RP11-468E2.4_ENST00000558468.1_5'Flank|PSME2_ENST00000471700.2_5'Flank|RNF31_ENST00000557878.1_3'UTR|PSME2_ENST00000216802.5_5'Flank|PSME2_ENST00000560410.1_5'Flank|RNF31_ENST00000559275.1_Missense_Mutation_p.P59T	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	210	Polyubiquitin-binding.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		ACCCTCTGTCCCAGGTATTAT	0.458																																						ENST00000324103.6																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39						c.(628-630)Cca>Aca		ring finger protein 31							168.0	167.0	168.0					14																	24618082		1879	4112	5991	SO:0001583	missense	55072				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:24618082C>A	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.628C>A	14.37:g.24618082C>A	ENSP00000315112:p.Pro210Thr					RNF31_ENST00000559275.1_Missense_Mutation_p.P59T|RNF31_ENST00000557878.1_3'UTR|RNF31_ENST00000382687.3_Missense_Mutation_p.P59T	p.P210T	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN		GBM - Glioblastoma multiforme(265;0.00861)	5	948	+			210			Polyubiquitin-binding.		A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	37	c.628C>A	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.812278	0.32053	.	.	ENSG00000092098	ENST00000324103;ENST00000382687	T;T	0.44482	0.93;0.92	4.5	1.6	0.23607	.	1.479250	0.03502	N	0.218171	T	0.20780	0.0500	N	0.04508	-0.205	0.21802	N	0.999532	B;B;B	0.16166	0.016;0.002;0.001	B;B;B	0.14578	0.011;0.001;0.004	T	0.14504	-1.0470	10	0.25751	T	0.34	-12.763	2.9473	0.05850	0.1854:0.5356:0.1794:0.0996	.	25;210;59	B3KV71;Q96EP0;Q96EP0-3	.;RNF31_HUMAN;.	T	210;59	ENSP00000315112:P210T;ENSP00000372134:P59T	ENSP00000315112:P210T	P	+	1	0	RNF31	23687922	0.001000	0.12720	0.948000	0.38648	0.981000	0.71138	0.100000	0.15231	0.151000	0.19162	0.561000	0.74099	CCA		0.458	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		16	171	1	0	0.000566183	0.160694	0.000618332	16	171				
SAP130	79595	broad.mit.edu	37	2	128703100	128703100	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr2:128703100T>C	ENST00000259235.3	-	18	2933	c.2804A>G	c.(2803-2805)aAt>aGt	p.N935S	SAP130_ENST00000259234.6_Missense_Mutation_p.N943S|SAP130_ENST00000357702.5_Missense_Mutation_p.N970S	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	935	Interactions with SIN3A and HDAC1.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TCCTTTCTGATTAGCTATTTC	0.408																																						ENST00000357702.5																			0				NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45						c.(2908-2910)aAt>aGt		Sin3A-associated protein, 130kDa							132.0	121.0	125.0					2																	128703100		2203	4300	6503	SO:0001583	missense	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128703100T>C	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.2804A>G	2.37:g.128703100T>C	ENSP00000259235:p.Asn935Ser					SAP130_ENST00000259234.6_Missense_Mutation_p.N943S|SAP130_ENST00000259235.3_Missense_Mutation_p.N935S	p.N970S	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	19	3040	-	Colorectal(110;0.1)		935			Interactions with SIN3A and HDAC1.		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	ENST00000259235.3	37	c.2909A>G	CCDS2153.1	.	.	.	.	.	.	.	.	.	.	.	15.33	2.802370	0.50315	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	6.07	4.92	0.64577	.	0.082890	0.85682	N	0.000000	T	0.47414	0.1444	L	0.34521	1.04	0.58432	D	0.999995	B;B;B;B	0.19583	0.037;0.037;0.037;0.037	B;B;B;B	0.18561	0.015;0.015;0.022;0.022	T	0.42949	-0.9421	9	0.87932	D	0	-18.4316	12.1622	0.54110	0.0:0.0664:0.0:0.9336	.	970;935;500;572	B7ZLM3;Q9H0E3;Q9H0E3-2;B3KRT9	.;SP130_HUMAN;.;.	S	970;935;943	.	ENSP00000259234:N943S	N	-	2	0	SAP130	128419570	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	4.685000	0.61693	1.117000	0.41842	0.533000	0.62120	AAT		0.408	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		4	68	0	0	0	0.014758	0	4	68				
SEC14L3	266629	broad.mit.edu	37	22	30866203	30866203	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr22:30866203C>T	ENST00000215812.4	-	3	260	c.170G>A	c.(169-171)cGc>cAc	p.R57H	SEC14L3_ENST00000403066.1_5'UTR|SEC14L3_ENST00000415957.2_5'UTR|SEC14L3_ENST00000539629.1_5'UTR|SEC14L3_ENST00000401751.1_5'UTR|SEC14L3_ENST00000540910.1_5'UTR|SEC14L3_ENST00000402286.1_5'UTR	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	57						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	TCTCACCTTGCGGAGCAAAGC	0.527																																					Esophageal Squamous(108;290 1516 3584 23771 37333)	ENST00000215812.4																			0				NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19						c.(169-171)cGc>cAc		SEC14-like 3 (S. cerevisiae)	Vitamin E(DB00163)						52.0	55.0	54.0					22																	30866203		2203	4300	6503	SO:0001583	missense	266629					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30866203C>T	AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.170G>A	22.37:g.30866203C>T	ENSP00000215812:p.Arg57His					SEC14L3_ENST00000415957.2_5'UTR|SEC14L3_ENST00000403066.1_5'UTR|SEC14L3_ENST00000402286.1_5'UTR|SEC14L3_ENST00000401751.1_5'UTR|SEC14L3_ENST00000540910.1_5'UTR|SEC14L3_ENST00000539629.1_5'UTR	p.R57H	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN			3	260	-			57					E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	ENST00000215812.4	37	c.170G>A	CCDS13877.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439235	0.83885	.	.	ENSG00000100012	ENST00000215812	D	0.86030	-2.06	5.31	3.2	0.36748	Phosphatidylinositol transfer protein-like, N-terminal (1);Cellular retinaldehyde-binding/triple function, N-terminal (1);	0.120057	0.64402	D	0.000018	D	0.92368	0.7578	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.92234	0.5795	10	0.87932	D	0	-8.0827	11.0954	0.48141	0.0:0.8452:0.0:0.1548	.	57	Q9UDX4	S14L3_HUMAN	H	57	ENSP00000215812:R57H	ENSP00000215812:R57H	R	-	2	0	SEC14L3	29196203	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.303000	0.59098	0.619000	0.30197	-0.136000	0.14681	CGC		0.527	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321950.4	NM_174975		3	33	0	0	0	0.150653	0	3	33				
SLC4A11	83959	broad.mit.edu	37	20	3214874	3214874	+	Silent	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr20:3214874G>A	ENST00000380056.3	-	4	473	c.426C>T	c.(424-426)aaC>aaT	p.N142N	SLC4A11_ENST00000539553.2_Silent_p.N126N|SLC4A11_ENST00000380059.3_Silent_p.N169N	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	142					bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)	p.N142N(1)|p.N169N(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						TGGCCGTCTCGTTCAGGACGA	0.597																																					NSCLC(190;922 2139 10266 10292 38692)	ENST00000380059.3																			2	Substitution - coding silent(2)	p.N142N(1)|p.N169N(1)	breast(2)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						c.(505-507)aaC>aaT		solute carrier family 4, sodium borate transporter, member 11							126.0	115.0	118.0					20																	3214874		2203	4300	6503	SO:0001819	synonymous_variant	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3214874G>A	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.426C>T	20.37:g.3214874G>A						SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Silent_p.N142N|SLC4A11_ENST00000539553.1_Silent_p.N126N	p.N169N	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN			5	608	-			142					B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Silent	SNP	ENST00000380056.3	37	c.507C>T	CCDS13052.1																																																																																				0.597	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			17	97	0	0	0	0.049695	0	17	97				
PCDHA5	56143	broad.mit.edu	37	5	140202764	140202764	+	Silent	SNP	G	G	A	rs17844294		TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr5:140202764G>A	ENST00000529859.1	+	1	1404	c.1404G>A	c.(1402-1404)ccG>ccA	p.P468P	PCDHA5_ENST00000378126.3_Silent_p.P468P|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.P468P	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	468	Cadherin 5. {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)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACAACCCGCCAGGCTGCC	0.677													.|||	1	0.000199681	0.0008	0.0	5008	,	,		17929	0.0		0.0	False		,,,				2504	0.0					ENST00000529859.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(1402-1404)ccG>ccA									69.0	73.0	72.0					5																	140202764		2202	4299	6501	SO:0001819	synonymous_variant	0							g.chr5:140202764G>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1404G>A	5.37:g.140202764G>A						PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Silent_p.P468P|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.P468P	p.P468P	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1404	+								O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	c.1404G>A	CCDS54917.1																																																																																				0.677	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		26	125	0	0	0	0.091800	0	26	125				
PRAMEF1	65121	broad.mit.edu	37	1	12855916	12855916	+	Missense_Mutation	SNP	G	G	A	rs534609491		TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr1:12855916G>A	ENST00000332296.7	+	4	1299	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.R154H	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	399					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GACCTGCTGCGCCACACCAGT	0.557													.|||	1	0.000199681	0.0	0.0	5008	,	,		19644	0.0		0.0	False		,,,				2504	0.001					ENST00000332296.7																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1195-1197)cGc>cAc		PRAME family member 1							49.0	46.0	47.0					1																	12855916		2201	4294	6495	SO:0001583	missense	65121							g.chr1:12855916G>A	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.1196G>A	1.37:g.12855916G>A	ENSP00000332134:p.Arg399His					PRAMEF1_ENST00000400814.3_Missense_Mutation_p.R154H	p.R399H	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1299	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	399					Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	c.1196G>A	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	2.972	-0.212215	0.06140	.	.	ENSG00000116721	ENST00000332296;ENST00000400814	T;T	0.49432	0.78;0.78	1.56	-0.674	0.11369	.	1.571450	0.04233	N	0.335492	T	0.30008	0.0751	L	0.27053	0.805	0.09310	N	1	B	0.18166	0.026	B	0.11329	0.006	T	0.09357	-1.0678	10	0.12430	T	0.62	.	4.1186	0.10094	0.4747:0.0:0.5253:0.0	.	399	O95521	PRAM1_HUMAN	H	399;154	ENSP00000332134:R399H;ENSP00000383616:R154H	ENSP00000332134:R399H	R	+	2	0	PRAMEF1	12778503	0.000000	0.05858	0.003000	0.11579	0.017000	0.09413	-2.135000	0.01306	-0.196000	0.10366	0.205000	0.17691	CGC		0.557	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		7	147	0	0	0	0.047766	0	7	147				
DIP2C	22982	broad.mit.edu	37	10	323440	323440	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr10:323440A>G	ENST00000280886.6	-	37	4583	c.4496T>C	c.(4495-4497)gTt>gCt	p.V1499A	AL603831.1_ENST00000579524.1_RNA	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1499						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CACCAAGGGAACCAGGTCCAA	0.542																																						ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(4495-4497)gTt>gCt		DIP2 disco-interacting protein 2 homolog C (Drosophila)							131.0	112.0	118.0					10																	323440		2203	4300	6503	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:323440A>G	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.4496T>C	10.37:g.323440A>G	ENSP00000280886:p.Val1499Ala						p.V1499A	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	37	4583	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	1499					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.4496T>C	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	A	19.18	3.777100	0.70107	.	.	ENSG00000151240	ENST00000280886;ENST00000535541	T	0.10668	2.85	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.14141	0.0342	L	0.43923	1.385	0.80722	D	1	B	0.33299	0.407	B	0.36378	0.223	T	0.01688	-1.1295	10	0.54805	T	0.06	-31.5245	16.5763	0.84648	1.0:0.0:0.0:0.0	.	1499	Q9Y2E4	DIP2C_HUMAN	A	1499;424	ENSP00000280886:V1499A	ENSP00000280886:V1499A	V	-	2	0	DIP2C	313440	1.000000	0.71417	0.984000	0.44739	0.578000	0.36192	9.339000	0.96797	2.317000	0.78254	0.459000	0.35465	GTT		0.542	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		5	40	0	0	0	0.021553	0	5	40				
C10orf55	414236	broad.mit.edu	37	10	75673797	75673797	+	Intron	SNP	A	A	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr10:75673797A>G	ENST00000409178.1	-	3	268				C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372762.4_Missense_Mutation_p.N211S|PLAU_ENST00000372764.3_Missense_Mutation_p.N247S|PLAU_ENST00000446342.1_Missense_Mutation_p.N230S	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55											endometrium(1)	1	Prostate(51;0.0112)					CTTAACTCCAACACGCAAGGG	0.502																																						ENST00000446342.1																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16						c.(688-690)aAc>aGc		plasminogen activator, urokinase	Amiloride(DB00594)|Urokinase(DB00013)						116.0	90.0	99.0					10																	75673797		2203	4300	6503	SO:0001627	intron_variant	5328				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr10:75673797A>G		CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.73-964T>C	10.37:g.75673797A>G						C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000372762.4_Missense_Mutation_p.N211S|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372764.3_Missense_Mutation_p.N247S	p.N230S	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN			7	1171	+	Prostate(51;0.0112)		247			Peptidase S1.		Q3KRG4|Q8NAK4	Missense_Mutation	SNP	ENST00000409178.1	37	c.689A>G	CCDS53541.1	.	.	.	.	.	.	.	.	.	.	A	7.336	0.619954	0.14193	.	.	ENSG00000122861	ENST00000446342;ENST00000372764;ENST00000372762;ENST00000372761	D;D;D	0.88046	-2.33;-2.33;-2.33	5.37	-10.7	0.00240	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.024820	0.01965	N	0.043649	T	0.64416	0.2596	N	0.11284	0.12	0.09310	N	0.999999	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.001	T	0.62144	-0.6916	10	0.09338	T	0.73	.	0.7493	0.00987	0.1742:0.2989:0.2062:0.3207	.	230;211;247;247	E7ET40;E7ESM2;B2R7F2;P00749	.;.;.;UROK_HUMAN	S	230;247;211;211	ENSP00000388474:N230S;ENSP00000361850:N247S;ENSP00000361848:N211S	ENSP00000361847:N211S	N	+	2	0	PLAU	75343803	0.000000	0.05858	0.000000	0.03702	0.137000	0.21094	-3.273000	0.00531	-2.557000	0.00476	-0.336000	0.08194	AAC		0.502	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1	NM_001001791		6	54	0	0	0	0.021553	0	6	54				
PDE10A	10846	broad.mit.edu	37	6	165752808	165752808	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr6:165752808T>C	ENST00000366882.1	-	21	2261	c.2107A>G	c.(2107-2109)Atg>Gtg	p.M703V	PDE10A_ENST00000354448.4_Missense_Mutation_p.M703V|PDE10A_ENST00000539869.2_Missense_Mutation_p.M713V			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	703					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	CTGTCCATCATAGGAATAGGC	0.353																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1																			0				breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(2107-2109)Atg>Gtg		phosphodiesterase 10A	Dipyridamole(DB00975)						143.0	145.0	144.0					6																	165752808		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165752808T>C	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.2107A>G	6.37:g.165752808T>C	ENSP00000355847:p.Met703Val					PDE10A_ENST00000539869.2_Missense_Mutation_p.M713V|PDE10A_ENST00000354448.4_Missense_Mutation_p.M703V	p.M703V			Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	21	2261	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	703					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.2107A>G		.	.	.	.	.	.	.	.	.	.	T	21.2	4.115194	0.77210	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.78003	-1.14;-1.14	5.78	5.78	0.91487	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	T	0.82231	0.4992	M	0.65498	2.005	0.51233	D	0.999917	P;B	0.47409	0.895;0.159	P;B	0.57720	0.826;0.067	D	0.84792	0.0779	10	0.87932	D	0	.	16.1138	0.81283	0.0:0.0:0.0:1.0	.	713;703	Q9ULW9;Q9Y233	.;PDE10_HUMAN	V	703;731;713;703;702	ENSP00000355847:M703V;ENSP00000346435:M703V	ENSP00000341187:M713V	M	-	1	0	PDE10A	165672798	1.000000	0.71417	0.181000	0.23098	0.835000	0.47333	7.428000	0.80296	2.220000	0.72140	0.533000	0.62120	ATG		0.353	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			4	126	0	0	0	0.150653	0	4	126				
GABRE	2564	broad.mit.edu	37	X	151124292	151124292	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chrX:151124292C>G	ENST00000370328.3	-	7	878	c.825G>C	c.(823-825)agG>agC	p.R275S	GABRE_ENST00000370325.1_Missense_Mutation_p.R275S|AF274855.1_ENST00000582865.1_RNA|GABRE_ENST00000483564.1_5'UTR|MIR224_ENST00000384889.1_RNA	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	275					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				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)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|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)	AGCCAAACCGCCTGCTCACAT	0.488																																						ENST00000370325.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.(823-825)agG>agC		gamma-aminobutyric acid (GABA) A receptor, epsilon							171.0	133.0	146.0					X																	151124292		2203	4300	6503	SO:0001583	missense	2564				gamma-aminobutyric acid signaling pathway	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.chrX:151124292C>G	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.825G>C	X.37:g.151124292C>G	ENSP00000359353:p.Arg275Ser					GABRE_ENST00000370328.3_Missense_Mutation_p.R275S|GABRE_ENST00000483564.1_5'UTR	p.R275S			P78334	GBRE_HUMAN			7	878	-	Acute lymphoblastic leukemia(192;6.56e-05)		275					E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	c.825G>C	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917561	0.52546	.	.	ENSG00000102287	ENST00000370328;ENST00000370325	D;D	0.93133	-3.17;-3.17	5.8	3.03	0.35002	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.64402	D	0.000003	D	0.96525	0.8866	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94079	0.7342	10	0.87932	D	0	.	4.7808	0.13201	0.0:0.584:0.1542:0.2619	.	275	P78334	GBRE_HUMAN	S	275	ENSP00000359353:R275S;ENSP00000359350:R275S	ENSP00000359350:R275S	R	-	3	2	GABRE	150874948	0.138000	0.22547	0.083000	0.20561	0.858000	0.48976	0.628000	0.24522	0.205000	0.20568	-0.344000	0.07964	AGG		0.488	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		13	50	0	0	0	0.132662	0	13	50				
DAPK1	1612	broad.mit.edu	37	9	90261436	90261436	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr9:90261436C>G	ENST00000408954.3	+	13	1527	c.1192C>G	c.(1192-1194)Ctc>Gtc	p.L398V	DAPK1_ENST00000469640.2_Missense_Mutation_p.L398V|DAPK1_ENST00000358077.5_Missense_Mutation_p.L398V|DAPK1_ENST00000491893.1_Missense_Mutation_p.L398V|DAPK1_ENST00000472284.1_Missense_Mutation_p.L398V	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	398					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						ACTACAGTTGCTCATTAAAAG	0.343									Chronic Lymphocytic Leukemia, Familial Clustering of																													ENST00000469640.2																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(1192-1194)Ctc>Gtc		death-associated protein kinase 1							98.0	92.0	94.0					9																	90261436		1850	4090	5940	SO:0001583	missense	1612	Chronic Lymphocytic Leukemia, Familial Clustering of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90261436C>G	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.1192C>G	9.37:g.90261436C>G	ENSP00000386135:p.Leu398Val					DAPK1_ENST00000491893.1_Missense_Mutation_p.L398V|DAPK1_ENST00000472284.1_Missense_Mutation_p.L398V|DAPK1_ENST00000408954.3_Missense_Mutation_p.L398V|DAPK1_ENST00000358077.5_Missense_Mutation_p.L398V	p.L398V			P53355	DAPK1_HUMAN			13	1567	+			398					B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	c.1192C>G	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253968	0.59212	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	D;D;D;D;D	0.86030	-2.06;-2.06;-1.75;-2.06;-1.75	5.02	5.02	0.67125	Ankyrin repeat-containing domain (4);	0.000000	0.45361	D	0.000371	D	0.92107	0.7498	M	0.93678	3.445	0.58432	D	0.99999	D;P;P	0.55800	0.973;0.58;0.762	P;B;B	0.54499	0.754;0.298;0.301	D	0.93527	0.6866	10	0.87932	D	0	.	13.2341	0.59958	0.0:0.9237:0.0:0.0763	.	398;398;398	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	V	398	ENSP00000350785:L398V;ENSP00000417076:L398V;ENSP00000418885:L398V;ENSP00000386135:L398V;ENSP00000419026:L398V	ENSP00000350785:L398V	L	+	1	0	DAPK1	89451256	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.260000	0.51523	2.773000	0.95371	0.655000	0.94253	CTC		0.343	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		14	58	0	0	0	0.160694	0	14	58				
GABRD	2563	broad.mit.edu	37	1	1957026	1957026	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr1:1957026G>A	ENST00000378585.4	+	4	402	c.319G>A	c.(319-321)Gag>Aag	p.E107K		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	107					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	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)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|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)	CCACACCAACGAGACCCTGGG	0.637																																						ENST00000378585.4																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(319-321)Gag>Aag		gamma-aminobutyric acid (GABA) A receptor, delta							103.0	101.0	102.0					1																	1957026		2203	4300	6503	SO:0001583	missense	2563					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.chr1:1957026G>A	BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4084	protein-coding gene	gene with protein product	"""GABA(A) receptor, delta"""	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.319G>A	1.37:g.1957026G>A	ENSP00000367848:p.Glu107Lys						p.E107K	NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	4	402	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	107					Q8N4N9	Missense_Mutation	SNP	ENST00000378585.4	37	c.319G>A	CCDS36.1	.	.	.	.	.	.	.	.	.	.	G	9.380	1.072755	0.20147	.	.	ENSG00000187730	ENST00000378585	T	0.77620	-1.11	4.4	4.4	0.53042	Neurotransmitter-gated ion-channel ligand-binding (3);	0.057624	0.64402	D	0.000001	T	0.48484	0.1502	N	0.02213	-0.635	0.45129	D	0.998145	B	0.14438	0.01	B	0.12837	0.008	T	0.50499	-0.8821	10	0.07030	T	0.85	-8.7375	10.1819	0.42972	0.0918:0.0:0.9082:0.0	.	107	O14764	GBRD_HUMAN	K	107	ENSP00000367848:E107K	ENSP00000367848:E107K	E	+	1	0	GABRD	1946886	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	3.954000	0.56708	2.444000	0.82710	0.561000	0.74099	GAG		0.637	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815		9	87	0	0	0	0.058154	0	9	87				
EXOC1	55763	broad.mit.edu	37	4	56744213	56744213	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr4:56744213A>G	ENST00000381295.2	+	9	1553	c.1205A>G	c.(1204-1206)aAa>aGa	p.K402R	EXOC1_ENST00000349598.6_Missense_Mutation_p.K402R|EXOC1_ENST00000346134.7_Missense_Mutation_p.K402R	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	402					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					GATTATGGAAAATATGAAGGA	0.383																																						ENST00000381295.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35						c.(1204-1206)aAa>aGa		exocyst complex component 1							140.0	135.0	137.0					4																	56744213		2203	4300	6503	SO:0001583	missense	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56744213A>G	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.1205A>G	4.37:g.56744213A>G	ENSP00000370695:p.Lys402Arg					EXOC1_ENST00000346134.7_Missense_Mutation_p.K402R|EXOC1_ENST00000349598.6_Missense_Mutation_p.K402R	p.K402R	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN			9	1553	+	Glioma(25;0.08)|all_neural(26;0.101)		402					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	37	c.1205A>G	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	A	9.579	1.122956	0.20959	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.65	4.44	0.53790	.	0.137085	0.64402	D	0.000004	T	0.28101	0.0693	N	0.10874	0.06	0.39160	D	0.962387	B;B	0.06786	0.001;0.001	B;B	0.10450	0.001;0.005	T	0.08827	-1.0703	9	0.15499	T	0.54	.	6.4834	0.22075	0.7887:0.0:0.0721:0.1392	.	402;402	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	R	402	.	ENSP00000326514:K402R	K	+	2	0	EXOC1	56438970	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.869000	0.63028	0.941000	0.37499	0.455000	0.32223	AAA		0.383	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		25	66	0	0	0	0.108266	0	25	66				
FLT1	2321	broad.mit.edu	37	13	28877423	28877423	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr13:28877423C>T	ENST00000282397.4	-	30	4149	c.3898G>A	c.(3898-3900)Gtc>Atc	p.V1300I	FLT1_ENST00000543394.1_Missense_Mutation_p.V323I|FLT1_ENST00000540678.1_Missense_Mutation_p.V518I	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1300					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)	CCTTCGCTGACGTGCCCACAG	0.547																																						ENST00000282397.4																			0				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						c.(3898-3900)Gtc>Atc		fms-related tyrosine kinase 1	Sunitinib(DB01268)						88.0	76.0	80.0					13																	28877423		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.chr13:28877423C>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.3898G>A	13.37:g.28877423C>T	ENSP00000282397:p.Val1300Ile					FLT1_ENST00000543394.1_Missense_Mutation_p.V323I|FLT1_ENST00000540678.1_Missense_Mutation_p.V518I	p.V1300I	NM_002019.4	NP_002010.2	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)	30	4149	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	1300					A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.3898G>A	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	0.246	-1.009737	0.02095	.	.	ENSG00000102755	ENST00000282397;ENST00000543394;ENST00000540678	T;T;T	0.77358	-0.85;-1.07;-1.09	5.06	-10.1	0.00402	.	1.428260	0.03970	N	0.291565	T	0.49012	0.1532	N	0.04636	-0.2	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.46762	-0.9168	10	0.21540	T	0.41	.	6.1024	0.20055	0.1526:0.3873:0.3684:0.0916	.	1300	P17948	VGFR1_HUMAN	I	1300;323;518	ENSP00000282397:V1300I;ENSP00000437841:V323I;ENSP00000443311:V518I	ENSP00000282397:V1300I	V	-	1	0	FLT1	27775423	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-2.441000	0.01015	-3.734000	0.00114	-1.486000	0.00981	GTC		0.547	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			5	73	0	0	0	0.014758	0	5	73				
KLHL7	55975	broad.mit.edu	37	7	23207656	23207656	+	Splice_Site	SNP	C	C	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr7:23207656C>G	ENST00000339077.5	+	9	1622	c.1379C>G	c.(1378-1380)aCa>aGa	p.T460R	KLHL7_ENST00000409689.1_Splice_Site_p.T412R|KLHL7_ENST00000545443.1_Splice_Site_p.T438R|KLHL7_ENST00000542558.1_Splice_Site_p.T235R|KLHL7_ENST00000539124.1_Splice_Site_p.T384R|KLHL7_ENST00000322231.7_Splice_Site_p.T438R	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	460					protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCCACAGAAACGTATGTATCT	0.368																																						ENST00000322231.7																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.e10+1		kelch-like family member 7							96.0	95.0	95.0					7																	23207656		2203	4300	6503	SO:0001630	splice_region_variant	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23207656C>G		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.1379+1C>G	7.37:g.23207656C>G						KLHL7_ENST00000339077.4_Splice_Site_p.T460_splice|KLHL7_ENST00000545443.1_Splice_Site_p.T438_splice|KLHL7_ENST00000542558.1_Splice_Site_p.T235_splice|KLHL7_ENST00000539124.1_Splice_Site_p.T384_splice|KLHL7_ENST00000409689.1_Splice_Site_p.T412_splice	p.T438_splice			Q8IXQ5	KLHL7_HUMAN			10	1803	+			460					A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Splice_Site	SNP	ENST00000339077.5	37	c.1313_splice	CCDS34609.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.003|7.003	0.555313|0.555313	0.13436|0.13436	.|.	.|.	ENSG00000122550|ENSG00000122550	ENST00000536369|ENST00000538858;ENST00000322231;ENST00000339077;ENST00000539124;ENST00000542558;ENST00000409689;ENST00000545443	.|T;T;T;T;T;T	.|0.79653	.|-1.29;-1.29;-1.29;-1.29;-1.29;-1.29	5.69|5.69	5.69|5.69	0.88448|0.88448	.|Kelch-type beta propeller (1);	.|0.160092	.|0.56097	.|D	.|0.000038	T|T	0.72187|0.72187	0.3429|0.3429	N|N	0.21583|0.21583	0.68|0.68	0.58432|0.58432	D|D	0.999995|0.999995	.|B;B;B	.|0.19200	.|0.034;0.012;0.01	.|B;B;B	.|0.16289	.|0.015;0.007;0.004	T|T	0.64871|0.64871	-0.6305|-0.6305	6|10	0.17832|0.31617	T|T	0.49|0.26	.|.	19.813|19.813	0.96554|0.96554	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|235;460;438	.|B7Z3P9;Q8IXQ5;Q8IXQ5-2	.|.;KLHL7_HUMAN;.	D|R	380|301;438;460;384;235;412;438	.|ENSP00000322958:T438R;ENSP00000343273:T460R;ENSP00000441136:T384R;ENSP00000442367:T235R;ENSP00000386263:T412R;ENSP00000442366:T438R	ENSP00000442363:H380D|ENSP00000322958:T438R	H|T	+|+	1|2	0|0	KLHL7|KLHL7	23174181|23174181	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.871000|0.871000	0.50021|0.50021	5.755000|5.755000	0.68750|0.68750	2.683000|2.683000	0.91414|0.91414	0.591000|0.591000	0.81541|0.81541	CAT|ACA		0.368	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846	Missense_Mutation	4	42	0	0	0	0.021553	0	4	42				
NOTCH1	4851	broad.mit.edu	37	9	139401765	139401765	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr9:139401765C>T	ENST00000277541.6	-	22	3710	c.3635G>A	c.(3634-3636)gGc>gAc	p.G1212D		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1212	EGF-like 31; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACCCTGAGTGCCCCGTGGGCA	0.687			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(3634-3636)gGc>gAc		notch 1							35.0	39.0	37.0					9																	139401765		1992	4163	6155	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139401765C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.3635G>A	9.37:g.139401765C>T	ENSP00000277541:p.Gly1212Asp	HNSCC(8;0.001)					p.G1212D	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	22	3710	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1212			EGF-like 31; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.3635G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.686807	0.88639	.	.	ENSG00000148400	ENST00000277541	D	0.98192	-4.78	5.13	5.13	0.70059	EGF (1);EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99162	0.9710	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99406	1.0929	10	0.72032	D	0.01	.	17.568	0.87926	0.0:1.0:0.0:0.0	.	1212	P46531	NOTC1_HUMAN	D	1212	ENSP00000277541:G1212D	ENSP00000277541:G1212D	G	-	2	0	NOTCH1	138521586	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	7.395000	0.79876	2.382000	0.81193	0.655000	0.94253	GGC		0.687	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		3	43	0	0	0	0.115264	0	3	43				
SCN1A	6323	broad.mit.edu	37	2	166900370	166900370	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr2:166900370G>A	ENST00000303395.4	-	11	1851	c.1852C>T	c.(1852-1854)Cgc>Tgc	p.R618C	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.R618C|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.R618C|SCN1A_ENST00000409050.1_Missense_Mutation_p.R618C			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	618					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTGCTGTTGCGTCTCTCTCCG	0.537																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(1852-1854)Cgc>Tgc		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						182.0	147.0	159.0					2																	166900370		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166900370G>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1852C>T	2.37:g.166900370G>A	ENSP00000303540:p.Arg618Cys					SCN1A_ENST00000375405.3_Missense_Mutation_p.R618C|SCN1A_ENST00000303395.4_Missense_Mutation_p.R618C|SCN1A_ENST00000409050.1_Missense_Mutation_p.R618C|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA	p.R618C	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			11	1869	-			618					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.1852C>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635964	0.67130	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24	5.23	5.23	0.72850	Domain of unknown function DUF3451 (1);	0.000000	0.64402	D	0.000003	D	0.97105	0.9054	M	0.91300	3.195	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	P;P;D	0.73380	0.809;0.83;0.98	D	0.97750	1.0214	10	0.87932	D	0	.	13.7383	0.62831	0.0:0.0:0.8461:0.1539	.	618;618;618	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	C	618	ENSP00000407030:R618C;ENSP00000303540:R618C;ENSP00000364554:R618C;ENSP00000386312:R618C	ENSP00000303540:R618C	R	-	1	0	SCN1A	166608616	1.000000	0.71417	0.998000	0.56505	0.892000	0.51952	6.557000	0.73937	2.444000	0.82710	0.561000	0.74099	CGC		0.537	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		24	59	0	0	0	0.069288	0	24	59				
KBTBD12	166348	broad.mit.edu	37	3	127642852	127642852	+	Silent	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr3:127642852C>T	ENST00000405109.1	+	2	1415	c.948C>T	c.(946-948)taC>taT	p.Y316Y	KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000405256.1_Silent_p.Y316Y			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	316								p.Y316Y(2)		endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CTCCCAAGTACGGAGAGGGTT	0.408																																						ENST00000405109.1																			2	Substitution - coding silent(2)	p.Y316Y(2)	large_intestine(2)	endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						c.(946-948)taC>taT		kelch repeat and BTB (POZ) domain containing 12							135.0	129.0	131.0					3																	127642852		1908	4108	6016	SO:0001819	synonymous_variant	166348							g.chr3:127642852C>T		CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"""BTB/POZ domain containing"""	25731	protein-coding gene	gene with protein product			"""kelch domain containing 6"""	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.948C>T	3.37:g.127642852C>T						KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000405256.1_Silent_p.Y316Y	p.Y316Y			Q3ZCT8	KBTBC_HUMAN			2	1415	+			316					B5MCC6|Q6ZRK1	Silent	SNP	ENST00000405109.1	37	c.948C>T	CCDS33848.2																																																																																				0.408	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1	NM_207335		6	74	0	0	0	0.021553	0	6	74				
OR5AU1	390445	broad.mit.edu	37	14	21624148	21624148	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr14:21624148T>C	ENST00000304418.3	-	1	74	c.37A>G	c.(37-39)Ata>Gta	p.I13V		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		ATGAGTCTTATTGAGGGCATT	0.448																																						ENST00000304418.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21						c.(37-39)Ata>Gta		olfactory receptor, family 5, subfamily AU, member 1							169.0	161.0	164.0					14																	21624148		2203	4300	6503	SO:0001583	missense	390445				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21624148T>C	AL157687	CCDS32042.1	14q11.2	2013-09-23			ENSG00000169327	ENSG00000169327		"""GPCR / Class A : Olfactory receptors"""	15362	protein-coding gene	gene with protein product							Standard	NM_001004731		Approved		uc010tlp.2	Q8NGC0	OTTHUMG00000170753	ENST00000304418.3:c.37A>G	14.37:g.21624148T>C	ENSP00000302057:p.Ile13Val						p.I13V	NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)	1	74	-	all_cancers(95;0.00238)		13					B2RP78|Q6IEU2|Q96R10	Missense_Mutation	SNP	ENST00000304418.3	37	c.37A>G	CCDS32042.1	.	.	.	.	.	.	.	.	.	.	t	0.464	-0.887655	0.02511	.	.	ENSG00000169327	ENST00000304418	T	0.00004	9.8	3.85	-1.29	0.09288	.	.	.	.	.	T	0.00039	0.0001	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12041	-1.0563	9	0.02654	T	1	.	7.231	0.26043	0.0:0.4443:0.0:0.5557	.	13	Q8NGC0	O5AU1_HUMAN	V	13	ENSP00000302057:I13V	ENSP00000302057:I13V	I	-	1	0	OR5AU1	20693988	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	-0.551000	0.06027	-0.142000	0.11354	-1.302000	0.01329	ATA		0.448	OR5AU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410213.1			12	148	0	0	0	0.080935	0	12	148				
RBP3	5949	broad.mit.edu	37	10	48389905	48389905	+	Missense_Mutation	SNP	C	C	T	rs368898051		TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr10:48389905C>T	ENST00000224600.4	-	1	1086	c.973G>A	c.(973-975)Gcc>Acc	p.A325T	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	325	4 X approximate tandem repeats.		A -> T. {ECO:0000269|PubMed:19074801}.		lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCTGGAAGGGCGCTGCGCAGA	0.672																																						ENST00000224600.4																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(973-975)Gcc>Acc		retinol binding protein 3, interstitial	Vitamin A(DB00162)	C	THR/ALA	0,4406		0,0,2203	36.0	35.0	35.0		973	4.4	1.0	10		35	2,8598	2.2+/-6.3	0,2,4298	no	missense	RBP3	NM_002900.2	58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	325/1248	48389905	2,13004	2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48389905C>T	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.973G>A	10.37:g.48389905C>T	ENSP00000224600:p.Ala325Thr						p.A325T	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	1086	-			325			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.973G>A	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.098363	0.37048	0.0	2.33E-4	ENSG00000107618	ENST00000224600	T	0.64260	-0.09	5.29	4.36	0.52297	.	0.283735	0.35151	N	0.003407	T	0.76688	0.4022	M	0.74647	2.275	0.32854	D	0.506995	D	0.89917	1.0	D	0.78314	0.991	T	0.82739	-0.0308	10	0.51188	T	0.08	-24.0399	12.1203	0.53887	0.3117:0.6883:0.0:0.0	.	325	P10745	RET3_HUMAN	T	325	ENSP00000224600:A325T	ENSP00000224600:A325T	A	-	1	0	RBP3	48009911	0.751000	0.28327	0.977000	0.42913	0.123000	0.20343	1.388000	0.34442	1.194000	0.43101	0.561000	0.74099	GCC		0.672	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		6	43	0	0	0	0.021553	0	6	43				
THSD7B	80731	broad.mit.edu	37	2	137814399	137814399	+	Silent	SNP	T	T	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr2:137814399T>G	ENST00000409968.1	+	3	727	c.549T>G	c.(547-549)tcT>tcG	p.S183S	THSD7B_ENST00000543459.1_Silent_p.S42S|THSD7B_ENST00000413152.2_Silent_p.S152S|THSD7B_ENST00000272643.3_Silent_p.S183S			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	183	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTGTAGTATCTGAGTTCTTAC	0.493																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(547-549)tcT>tcG		thrombospondin, type I, domain containing 7B							202.0	201.0	201.0					2																	137814399		1983	4161	6144	SO:0001819	synonymous_variant	80731							g.chr2:137814399T>G			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.549T>G	2.37:g.137814399T>G						THSD7B_ENST00000272643.3_Silent_p.S183S|THSD7B_ENST00000543459.1_Silent_p.S42S|THSD7B_ENST00000413152.2_Silent_p.S152S	p.S183S						BRCA - Breast invasive adenocarcinoma(221;0.19)	3	727	+									Silent	SNP	ENST00000409968.1	37	c.549T>G																																																																																					0.493	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		13	246	0	0	0	0.132662	0	13	246				
OR5AS1	219447	broad.mit.edu	37	11	55798549	55798549	+	Missense_Mutation	SNP	T	T	A	rs376355115		TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr11:55798549T>A	ENST00000313555.1	+	1	655	c.655T>A	c.(655-657)Ttc>Atc	p.F219I		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TATTTCTTACTTCTGCATCCT	0.438																																						ENST00000313555.1																			0				endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48						c.(655-657)Ttc>Atc		olfactory receptor, family 5, subfamily AS, member 1							214.0	207.0	210.0					11																	55798549		2201	4296	6497	SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798549T>A	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.655T>A	11.37:g.55798549T>A	ENSP00000324111:p.Phe219Ile						p.F219I	NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN			1	655	+	Esophageal squamous(21;0.00693)		219					Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	c.655T>A	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	T	2.390	-0.340067	0.05243	.	.	ENSG00000181785	ENST00000313555	T	0.00034	8.87	5.23	-4.74	0.03249	GPCR, rhodopsin-like superfamily (1);	0.472859	0.15628	U	0.252548	T	0.00039	0.0001	N	0.00504	-1.425	0.09310	N	1	B	0.27013	0.166	B	0.25291	0.059	T	0.12734	-1.0536	10	0.12766	T	0.61	.	5.5087	0.16868	0.174:0.0743:0.5355:0.2162	.	219	Q8N127	O5AS1_HUMAN	I	219	ENSP00000324111:F219I	ENSP00000324111:F219I	F	+	1	0	OR5AS1	55555125	0.000000	0.05858	0.000000	0.03702	0.270000	0.26580	-1.307000	0.02733	-0.707000	0.05022	0.523000	0.50628	TTC		0.438	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		13	189	0	0	0	0.119110	0	13	189				
FAM83B	222584	broad.mit.edu	37	6	54805411	54805411	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr6:54805411C>A	ENST00000306858.7	+	5	1758	c.1642C>A	c.(1642-1644)Ccc>Acc	p.P548T	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	548										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AGTATTTAAACCCACTTTACC	0.423																																						ENST00000306858.7																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(1642-1644)Ccc>Acc		family with sequence similarity 83, member B							82.0	82.0	82.0					6																	54805411		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54805411C>A	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.1642C>A	6.37:g.54805411C>A	ENSP00000304078:p.Pro548Thr						p.P548T	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN			5	1758	+	Lung NSC(77;0.0178)|Renal(3;0.122)		548					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.1642C>A	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.899054	0.52227	.	.	ENSG00000168143	ENST00000306858	T	0.37752	1.18	5.66	5.66	0.87406	.	0.070560	0.64402	D	0.000011	T	0.48409	0.1498	M	0.67953	2.075	0.47153	D	0.99933	D	0.69078	0.997	P	0.61874	0.895	T	0.46735	-0.9170	10	0.66056	D	0.02	-19.7478	15.5909	0.76526	0.0:0.863:0.137:0.0	.	548	Q5T0W9	FA83B_HUMAN	T	548	ENSP00000304078:P548T	ENSP00000304078:P548T	P	+	1	0	FAM83B	54913370	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.585000	0.46111	2.832000	0.97577	0.655000	0.94253	CCC		0.423	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		5	64	1	0	1.23904e-05	0.014758	1.3712e-05	5	64				
HBE1	3046	broad.mit.edu	37	11	5289795	5289795	+	Silent	SNP	A	A	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr11:5289795A>T	ENST00000380237.1	-	5	692	c.348T>A	c.(346-348)gcT>gcA	p.A116A	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000292896.2_Silent_p.A116A|HBG2_ENST00000380259.2_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	116					blood coagulation (GO:0007596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein heterooligomerization (GO:0051291)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAAGTGAGTAGCCAGAATAA	0.488																																						ENST00000380237.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20						c.(346-348)gcT>gcA		hemoglobin, epsilon 1							182.0	164.0	170.0					11																	5289795		2201	4298	6499	SO:0001819	synonymous_variant	3046				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr11:5289795A>T	BC015537	CCDS7756.1	11p15.5	2012-10-02			ENSG00000213931	ENSG00000213931			4830	protein-coding gene	gene with protein product		142100				2649166	Standard	NM_005330		Approved	HBE	uc001mal.1	P02100	OTTHUMG00000066675	ENST00000380237.1:c.348T>A	11.37:g.5289795A>T						HBG2_ENST00000380259.2_Intron|HBE1_ENST00000292896.2_Silent_p.A116A|HBG2_ENST00000380252.1_Intron	p.A116A			P02100	HBE_HUMAN		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	5	692	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	116					Q6FH44	Silent	SNP	ENST00000380237.1	37	c.348T>A	CCDS7756.1																																																																																				0.488	HBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142973.2	NM_005330		19	135	0	0	0	0.055883	0	19	135				
ZNF443	10224	broad.mit.edu	37	19	12541355	12541355	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr19:12541355T>A	ENST00000301547.5	-	4	1828	c.1631A>T	c.(1630-1632)tAt>tTt	p.Y544F	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	544					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TAAGTTATCATAATGACCGAA	0.398																																						ENST00000301547.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						c.(1630-1632)tAt>tTt		zinc finger protein 443							121.0	115.0	117.0					19																	12541355		2203	4300	6503	SO:0001583	missense	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12541355T>A	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.1631A>T	19.37:g.12541355T>A	ENSP00000301547:p.Tyr544Phe					CTD-3105H18.16_ENST00000595562.1_Intron	p.Y544F	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN			4	1828	-			544						Missense_Mutation	SNP	ENST00000301547.5	37	c.1631A>T	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.319572	0.00018	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.07327	3.2	1.37	-2.74	0.05932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02418	0.0074	N	0.03967	-0.31	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26018	-1.0115	9	0.09338	T	0.73	.	1.555	0.02583	0.2335:0.1188:0.1421:0.5056	.	544	Q9Y2A4	ZN443_HUMAN	F	544	ENSP00000301547:Y544F	ENSP00000301547:Y544F	Y	-	2	0	ZNF443	12402355	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.943000	0.00048	-4.451000	0.00048	-3.978000	0.00014	TAT		0.398	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		9	60	0	0	0	0.069234	0	9	60				
NHS	4810	broad.mit.edu	37	X	17750102	17750102	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chrX:17750102A>G	ENST00000380060.3	+	8	4749	c.4411A>G	c.(4411-4413)Aca>Gca	p.T1471A	NHS_ENST00000398097.3_Missense_Mutation_p.T1315A	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1492					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CAGTAATGTGACAACCCCCAA	0.493													A|||	1	0.000264901	0.0	0.0	3775	,	,		13817	0.0		0.001	False		,,,				2504	0.0					ENST00000380060.3																			0				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71						c.(4411-4413)Aca>Gca		Nance-Horan syndrome (congenital cataracts and dental anomalies)							155.0	139.0	144.0					X																	17750102		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17750102A>G		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.4411A>G	X.37:g.17750102A>G	ENSP00000369400:p.Thr1471Ala					NHS_ENST00000398097.3_Missense_Mutation_p.T1315A	p.T1471A	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN			8	4749	+	Hepatocellular(33;0.183)		1471					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.4411A>G	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	A	4.735	0.136658	0.09032	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.42900	0.96;0.97	5.79	2.75	0.32379	.	0.206630	0.51477	D	0.000098	T	0.21062	0.0507	L	0.27053	0.805	0.09310	N	0.999993	B;B;B;B	0.19445	0.004;0.002;0.002;0.036	B;B;B;B	0.15484	0.006;0.004;0.004;0.013	T	0.14337	-1.0476	10	0.08599	T	0.76	-17.4979	4.2222	0.10563	0.4755:0.3247:0.1998:0.0	.	1492;1313;1315;1471	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	A	1471;1315;1313	ENSP00000369400:T1471A;ENSP00000381170:T1315A	ENSP00000369397:T1313A	T	+	1	0	NHS	17660023	0.000000	0.05858	0.532000	0.27989	0.145000	0.21501	0.191000	0.17076	1.946000	0.56461	0.486000	0.48141	ACA		0.493	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		14	82	0	0	0	0.132662	0	14	82				
KANK2	25959	broad.mit.edu	37	19	11304613	11304613	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr19:11304613T>C	ENST00000586659.1	-	4	457	c.143A>G	c.(142-144)aAg>aGg	p.K48R	KANK2_ENST00000589894.1_Missense_Mutation_p.K48R|KANK2_ENST00000355150.5_Missense_Mutation_p.K48R|KANK2_ENST00000432929.2_Missense_Mutation_p.K48R|KANK2_ENST00000589359.1_Missense_Mutation_p.K48R			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	48	Interaction with AIFM1.				apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ATCCACGTACTTGAGGAAGTC	0.692																																						ENST00000432929.2																			0				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(142-144)aAg>aGg		KN motif and ankyrin repeat domains 2							45.0	50.0	48.0					19																	11304613		2203	4300	6503	SO:0001583	missense	25959							g.chr19:11304613T>C	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	29300	protein-coding gene	gene with protein product		614610	"""matrix-remodelling associated 3"", ""ankyrin repeat domain 25"""	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.143A>G	19.37:g.11304613T>C	ENSP00000465650:p.Lys48Arg					KANK2_ENST00000586659.1_Missense_Mutation_p.K48R|KANK2_ENST00000589894.1_Missense_Mutation_p.K48R|KANK2_ENST00000355150.5_Missense_Mutation_p.K48R|KANK2_ENST00000589359.1_Missense_Mutation_p.K48R	p.K48R	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN			4	503	-			48					B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Missense_Mutation	SNP	ENST00000586659.1	37	c.143A>G	CCDS12255.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.768257	0.90020	.	.	ENSG00000197256	ENST00000432929;ENST00000355150	D;D	0.84223	-1.82;-1.78	4.28	4.28	0.50868	Kank N-terminal motif (1);	0.000000	0.85682	D	0.000000	D	0.90573	0.7045	M	0.71036	2.16	0.38858	D	0.956424	D;D;D	0.71674	0.996;0.993;0.998	D;D;D	0.80764	0.99;0.985;0.994	D	0.91049	0.4877	10	0.45353	T	0.12	-22.2899	12.3987	0.55399	0.0:0.0:0.0:1.0	.	48;48;48	Q63ZY3-3;Q63ZY3;Q63ZY3-2	.;KANK2_HUMAN;.	R	48	ENSP00000395650:K48R;ENSP00000347276:K48R	ENSP00000347276:K48R	K	-	2	0	KANK2	11165613	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.443000	0.80521	1.569000	0.49696	0.379000	0.24179	AAG		0.692	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		17	52	0	0	0	0.160694	0	17	52				
PCDHGA2	56113	broad.mit.edu	37	5	140720528	140720528	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr5:140720528G>A	ENST00000394576.2	+	1	1990	c.1990G>A	c.(1990-1992)Gtg>Atg	p.V664M	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	664	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)			CACCGTGGCCGTGGCCGACAG	0.677																																						ENST00000394576.2																			0				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						c.(1990-1992)Gtg>Atg									33.0	42.0	39.0					5																	140720528		2198	4281	6479	SO:0001583	missense	0							g.chr5:140720528G>A	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.1990G>A	5.37:g.140720528G>A	ENSP00000378077:p.Val664Met					PCDHGA1_ENST00000517417.1_Intron	p.V664M	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1990	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.1990G>A	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	10.06	1.246869	0.22796	.	.	ENSG00000081853	ENST00000394576	T	0.68181	-0.31	5.14	0.218	0.15270	Cadherin (4);Cadherin-like (1);	0.553031	0.13737	U	0.366252	T	0.76463	0.3991	M	0.94063	3.49	0.09310	N	0.999992	P;P	0.52463	0.889;0.953	B;P	0.50192	0.306;0.634	T	0.67894	-0.5552	10	0.72032	D	0.01	.	6.4824	0.22069	0.4454:0.1202:0.4344:0.0	.	664;664	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	M	664	ENSP00000378077:V664M	ENSP00000378077:V664M	V	+	1	0	PCDHGA2	140700712	0.000000	0.05858	0.001000	0.08648	0.065000	0.16274	-1.818000	0.01717	-0.174000	0.10743	0.485000	0.47835	GTG		0.677	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		12	115	0	0	0	0.080935	0	12	115				
TRIM21	6737	broad.mit.edu	37	11	4411307	4411307	+	Silent	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr11:4411307G>A	ENST00000254436.7	-	2	445	c.333C>T	c.(331-333)tgC>tgT	p.C111C	TRIM21_ENST00000543625.1_Silent_p.C111C	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	111					cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		CACATACCCAGCAAAGGGCCT	0.577																																						ENST00000254436.7																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16						c.(331-333)tgC>tgT		tripartite motif containing 21							74.0	78.0	77.0					11																	4411307		2046	4190	6236	SO:0001819	synonymous_variant	6737				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4411307G>A	AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	11312	protein-coding gene	gene with protein product		109092	"""Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)"", ""tripartite motif-containing 21"""	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.333C>T	11.37:g.4411307G>A						TRIM21_ENST00000543625.1_Silent_p.C111C	p.C111C	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)	2	445	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	111					Q5XPV5|Q96RF8	Silent	SNP	ENST00000254436.7	37	c.333C>T	CCDS44525.1																																																																																				0.577	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385842.1	NM_003141		3	41	0	0	0	0.115264	0	3	41				
FAM111A	63901	broad.mit.edu	37	11	58919681	58919681	+	Silent	SNP	A	A	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr11:58919681A>G	ENST00000528737.1	+	5	3358	c.540A>G	c.(538-540)gaA>gaG	p.E180E	FAM111A_ENST00000531147.1_Silent_p.E180E|FAM111A_ENST00000533703.1_Silent_p.E180E|FAM111A_ENST00000361723.3_Silent_p.E180E|FAM111A_ENST00000420244.1_Silent_p.E180E			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	180					defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				CATCGACTGAATGTGTCAAAT	0.408																																						ENST00000528737.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(538-540)gaA>gaG		family with sequence similarity 111, member A							113.0	112.0	112.0					11																	58919681		2201	4295	6496	SO:0001819	synonymous_variant	63901				proteolysis		serine-type endopeptidase activity	g.chr11:58919681A>G	AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.540A>G	11.37:g.58919681A>G						FAM111A_ENST00000533703.1_Silent_p.E180E|FAM111A_ENST00000361723.3_Silent_p.E180E|FAM111A_ENST00000420244.1_Silent_p.E180E|FAM111A_ENST00000531147.1_Silent_p.E180E	p.E180E			Q96PZ2	F111A_HUMAN			5	3358	+		all_epithelial(135;0.139)	180					A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Silent	SNP	ENST00000528737.1	37	c.540A>G	CCDS7973.1																																																																																				0.408	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074		16	90	0	0	0	0.146539	0	16	90				
STAB2	55576	broad.mit.edu	37	12	104107521	104107521	+	Silent	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr12:104107521C>T	ENST00000388887.2	+	42	4716	c.4512C>T	c.(4510-4512)taC>taT	p.Y1504Y		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AAGCAGGCTACACGGGTGATG	0.517																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(4510-4512)taC>taT		stabilin 2							300.0	267.0	278.0					12																	104107521		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104107521C>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.4512C>T	12.37:g.104107521C>T							p.Y1504Y	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			42	4716	+			1504			EGF-like 12.			Silent	SNP	ENST00000388887.2	37	c.4512C>T	CCDS31888.1																																																																																				0.517	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			19	203	0	0	0	0.069288	0	19	203				
ANKRD45	339416	broad.mit.edu	37	1	173593981	173593981	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr1:173593981C>G	ENST00000333279.2	-	5	735	c.675G>C	c.(673-675)caG>caC	p.Q225H		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	241										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						GTTGTTGTCTCTGCTCAAAAA	0.393																																						ENST00000333279.2																			0				NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						c.(673-675)caG>caC		ankyrin repeat domain 45							135.0	129.0	131.0					1																	173593981		2203	4300	6503	SO:0001583	missense	339416							g.chr1:173593981C>G		CCDS1309.1	1q25.1	2013-01-10			ENSG00000183831	ENSG00000183831		"""Ankyrin repeat domain containing"""	24786	protein-coding gene	gene with protein product	"""cancer/testis antigen 117"""						Standard	NM_198493		Approved	FLJ45235, CT117	uc001gja.1	Q5TZF3	OTTHUMG00000040546	ENST00000333279.2:c.675G>C	1.37:g.173593981C>G	ENSP00000331268:p.Gln225His						p.Q225H	NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN			5	735	-			241					A1A4G2|Q6ZST1	Missense_Mutation	SNP	ENST00000333279.2	37	c.675G>C	CCDS1309.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.196159	0.38806	.	.	ENSG00000183831	ENST00000333279	T	0.15017	2.46	5.99	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.27765	0.0683	L	0.58669	1.825	0.41598	D	0.988838	D	0.89917	1.0	D	0.70716	0.97	T	0.00509	-1.1698	10	0.87932	D	0	-11.4662	13.0567	0.58984	0.0:0.9119:0.0:0.0881	.	241	Q5TZF3	ANR45_HUMAN	H	225	ENSP00000331268:Q225H	ENSP00000331268:Q225H	Q	-	3	2	ANKRD45	171860604	1.000000	0.71417	1.000000	0.80357	0.077000	0.17291	2.175000	0.42491	2.840000	0.97914	0.655000	0.94253	CAG		0.393	ANKRD45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097580.2	NM_198493		9	48	0	0	0	0.047766	0	9	48				
PKD1	5310	broad.mit.edu	37	16	2162937	2162937	+	Missense_Mutation	SNP	C	C	T	rs370648270		TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr16:2162937C>T	ENST00000262304.4	-	13	3221	c.3013G>A	c.(3013-3015)Gtc>Atc	p.V1005I	PKD1_ENST00000423118.1_Missense_Mutation_p.V1005I|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1005	PKD 4. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTCACGGTGACGTTGCTCACG	0.642																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(3013-3015)Gtc>Atc		polycystic kidney disease 1 (autosomal dominant)		C	ILE/VAL,ILE/VAL	0,4394		0,0,2197	112.0	101.0	104.0		3013,3013	3.9	0.2	16		104	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PKD1	NM_000296.3,NM_001009944.2	29,29	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	1005/4303,1005/4304	2162937	1,12993	2197	4300	6497	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2162937C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.3013G>A	16.37:g.2162937C>T	ENSP00000262304:p.Val1005Ile					PKD1_ENST00000423118.1_Missense_Mutation_p.V1005I|RP11-304L19.4_ENST00000568795.1_RNA	p.V1005I	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			13	3221	-			1005			PKD 4.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.3013G>A	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	c	8.631	0.893743	0.17613	0.0	1.16E-4	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.61274	0.12;0.12	4.83	3.87	0.44632	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (3);	0.333406	0.29328	N	0.012470	T	0.29783	0.0744	N	0.08118	0	0.20074	N	0.999931	B;B	0.29627	0.252;0.1	B;B	0.23716	0.048;0.036	T	0.16305	-1.0407	10	0.11485	T	0.65	.	8.3141	0.32088	0.1645:0.749:0.0:0.0864	.	1005;1005	P98161-3;P98161	.;PKD1_HUMAN	I	1005;1005;720	ENSP00000262304:V1005I;ENSP00000399501:V1005I	ENSP00000262304:V1005I	V	-	1	0	PKD1	2102938	0.812000	0.29077	0.250000	0.24296	0.138000	0.21146	1.396000	0.34531	1.010000	0.39314	0.645000	0.84053	GTC		0.642	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			4	48	0	0	0	0.014758	0	4	48				
HPCA	3208	broad.mit.edu	37	1	33354639	33354639	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr1:33354639A>G	ENST00000373467.3	+	2	242	c.140A>G	c.(139-141)gAg>gGg	p.E47G	HPCA_ENST00000480118.1_3'UTR	NM_002143.2	NP_002134.2	P84074	HPCA_HUMAN	hippocalcin	47	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				inner ear development (GO:0048839)		actin binding (GO:0003779)|calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				AATGTGGATGAGTTCAAGAAG	0.537																																						ENST00000373467.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						c.(139-141)gAg>gGg		hippocalcin							103.0	94.0	97.0					1																	33354639		2203	4300	6503	SO:0001583	missense	3208						actin binding|calcium ion binding	g.chr1:33354639A>G	BC001777	CCDS370.1	1p35-p34.2	2013-01-10			ENSG00000121905	ENSG00000121905		"""EF-hand domain containing"""	5144	protein-coding gene	gene with protein product		142622				8166736, 9931466	Standard	NM_002143		Approved		uc001bwh.3	P84074	OTTHUMG00000004017	ENST00000373467.3:c.140A>G	1.37:g.33354639A>G	ENSP00000362566:p.Glu47Gly					HPCA_ENST00000480118.1_3'UTR	p.E47G	NM_002143.2	NP_002134.2	P84074	HPCA_HUMAN			2	242	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	47			EF-hand 1.		B2R9T3|D3DPQ7|P32076|P41211|P70510	Missense_Mutation	SNP	ENST00000373467.3	37	c.140A>G	CCDS370.1	.	.	.	.	.	.	.	.	.	.	A	16.81	3.224681	0.58668	.	.	ENSG00000121905	ENST00000373467	T	0.75938	-0.98	5.22	5.22	0.72569	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.71134	0.3304	L	0.61387	1.9	0.80722	D	1	B	0.22414	0.069	B	0.19946	0.027	T	0.67511	-0.5652	10	0.32370	T	0.25	.	14.3821	0.66919	1.0:0.0:0.0:0.0	.	47	P84074	HPCA_HUMAN	G	47	ENSP00000362566:E47G	ENSP00000362566:E47G	E	+	2	0	HPCA	33127226	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.053000	0.93860	2.333000	0.79357	0.533000	0.62120	GAG		0.537	HPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011480.1	NM_002143		9	79	0	0	0	0.047766	0	9	79				
ERLIN2	11160	broad.mit.edu	37	8	37601885	37601885	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr8:37601885G>A	ENST00000276461.5	+	5	316	c.249G>A	c.(247-249)atG>atA	p.M83I	ERLIN2_ENST00000518586.1_Missense_Mutation_p.M83I|ERLIN2_ENST00000335171.6_Missense_Mutation_p.M83I|ERLIN2_ENST00000523887.1_Missense_Mutation_p.M83I|ERLIN2_ENST00000523107.1_Missense_Mutation_p.M83I|ERLIN2_ENST00000397228.2_Missense_Mutation_p.M83I|ERLIN2_ENST00000519638.1_Missense_Mutation_p.M83I	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	83					cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GTGGTGTGATGATCTACTTTG	0.507																																						ENST00000276461.5																			0				NS(1)|large_intestine(1)|lung(5)	7						c.(247-249)atG>atA		ER lipid raft associated 2							330.0	308.0	316.0					8																	37601885		2203	4300	6503	SO:0001583	missense	11160				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding	g.chr8:37601885G>A	AY358108	CCDS6095.1, CCDS34879.1	8p11.2	2012-11-23	2007-01-26	2007-01-26	ENSG00000147475	ENSG00000147475			1356	protein-coding gene	gene with protein product		611605	"""chromosome 8 open reading frame 2"", ""SPFH domain family, member 2"""	C8orf2, SPFH2, Erlin-2		10449903, 15897872, 16835267	Standard	NM_007175		Approved	NET32, SPG18	uc003xke.4	O94905	OTTHUMG00000164005	ENST00000276461.5:c.249G>A	8.37:g.37601885G>A	ENSP00000276461:p.Met83Ile					ERLIN2_ENST00000519638.1_Missense_Mutation_p.M83I|ERLIN2_ENST00000397228.2_Missense_Mutation_p.M83I|ERLIN2_ENST00000335171.6_Missense_Mutation_p.M83I|ERLIN2_ENST00000523107.1_Missense_Mutation_p.M83I|ERLIN2_ENST00000523887.1_Missense_Mutation_p.M83I|ERLIN2_ENST00000518586.1_Missense_Mutation_p.M83I	p.M83I	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		5	316	+		Lung NSC(58;0.174)	83					A0JLQ1|A8K5S9|B4DM38|D3DSW0|Q6NW21|Q86VS6|Q86W49	Missense_Mutation	SNP	ENST00000276461.5	37	c.249G>A	CCDS6095.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.105839	0.77096	.	.	ENSG00000147475	ENST00000397228;ENST00000518526;ENST00000523887;ENST00000276461;ENST00000518586;ENST00000335171;ENST00000521644;ENST00000519638	D;T;D;D;D;D;D;D	0.94046	-3.34;-1.15;-3.34;-3.34;-3.34;-3.34;-3.34;-3.34	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.95020	0.8388	L	0.41236	1.265	0.80722	D	1	P;B;B	0.49559	0.925;0.066;0.036	D;B;B	0.65140	0.932;0.039;0.016	D	0.93244	0.6629	10	0.34782	T	0.22	-45.7792	20.5827	0.99408	0.0:0.0:1.0:0.0	.	83;83;83	O94905;O94905-3;O94905-2	ERLN2_HUMAN;.;.	I	83;40;83;83;83;83;83;83	ENSP00000380405:M83I;ENSP00000429229:M40I;ENSP00000429903:M83I;ENSP00000276461:M83I;ENSP00000427847:M83I;ENSP00000335220:M83I;ENSP00000429621:M83I;ENSP00000428112:M83I	ENSP00000276461:M83I	M	+	3	0	ERLIN2	37721043	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.803000	0.99136	2.941000	0.99782	0.655000	0.94253	ATG		0.507	ERLIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376712.2	NM_007175		18	257	0	0	0	0.175082	0	18	257				
PCDHA7	56141	broad.mit.edu	37	5	140214180	140214180	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr5:140214180G>A	ENST00000525929.1	+	1	212	c.212G>A	c.(211-213)cGt>cAt	p.R71H	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R71H|PCDHA5_ENST00000529859.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	71	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(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAAATTCCGTGGGGATCTT	0.617																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(211-213)cGt>cAt									102.0	121.0	115.0					5																	140214180		2203	4300	6503	SO:0001583	missense	0							g.chr5:140214180G>A	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.212G>A	5.37:g.140214180G>A	ENSP00000436426:p.Arg71His					PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R71H|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.R71H	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	212	+								O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.212G>A	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	G	2.926	-0.222223	0.06061	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.29397	1.57;1.57	4.17	2.33	0.28932	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	0.270973	0.18904	U	0.127960	T	0.19765	0.0475	L	0.41492	1.28	0.09310	N	1	B;B	0.18166	0.008;0.026	B;B	0.12837	0.004;0.008	T	0.21724	-1.0237	10	0.21014	T	0.42	.	4.8694	0.13625	0.2551:0.1576:0.5873:0.0	.	71;71	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	H	71	ENSP00000436426:R71H;ENSP00000367365:R71H	ENSP00000367365:R71H	R	+	2	0	PCDHA7	140194364	0.000000	0.05858	0.306000	0.25113	0.377000	0.30045	-0.075000	0.11431	0.321000	0.23259	0.449000	0.29647	CGT		0.617	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		15	247	0	0	0	0.146539	0	15	247				
IGHV3-11	28450	broad.mit.edu	37	14	106573439	106573439	+	RNA	SNP	T	T	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr14:106573439T>A	ENST00000390601.2	-	0	264									immunoglobulin heavy variable 3-11 (gene/pseudogene)																		TAGTAGTCACTGAAGGTGAAT	0.557																																						ENST00000390601.2																			0																				139.0	119.0	125.0					14																	106573439		1855	4096	5951			0							g.chr14:106573439T>A	M99652		14q32.33	2012-02-08	2008-09-12		ENSG00000211941	ENSG00000211941		"""Immunoglobulins / IGH locus"""	5580	other	immunoglobulin gene			"""immunoglobulin heavy variable 3-11"""				Standard	NG_001019		Approved				OTTHUMG00000152277		14.37:g.106573439T>A														0	264	-									RNA	SNP	ENST00000390601.2	37																																																																																						0.557	IGHV3-11-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325665.1	NG_001019		28	190	0	0	0	0.125774	0	28	190				
REEP1	65055	broad.mit.edu	37	2	86459814	86459814	+	Missense_Mutation	SNP	G	G	A	rs144874997	byFrequency	TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr2:86459814G>A	ENST00000165698.5	-	6	672	c.529C>T	c.(529-531)Cgg>Tgg	p.R177W	REEP1_ENST00000540790.1_Missense_Mutation_p.R156W|REEP1_ENST00000541910.1_Silent_p.G98G|REEP1_ENST00000473407.1_5'Flank|REEP1_ENST00000538924.1_Missense_Mutation_p.R184W|REEP1_ENST00000535845.1_Missense_Mutation_p.R150W	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1	177					cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein insertion into membrane (GO:0051205)|regulation of intracellular transport (GO:0032386)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	microtubule binding (GO:0008017)|olfactory receptor binding (GO:0031849)			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						CCGCTGGCCCGCCCAGACCCC	0.637													G|||	6	0.00119808	0.0045	0.0	5008	,	,		16075	0.0		0.0	False		,,,				2504	0.0					ENST00000165698.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(529-531)Cgg>Tgg		receptor accessory protein 1		G	TRP/ARG,TRP/ARG,TRP/ARG,	14,4392	21.2+/-45.6	0,14,2189	39.0	36.0	37.0		550,448,529,294	1.2	0.9	2	dbSNP_134	37	0,8600		0,0,4300	yes	missense,missense,missense,coding-synonymous	REEP1	NM_001164730.1,NM_001164731.1,NM_022912.2,NM_001164732.1	101,101,101,	0,14,6489	AA,AG,GG		0.0,0.3177,0.1076	probably-damaging,probably-damaging,probably-damaging,	184/209,150/175,177/202,98/144	86459814	14,12992	2203	4300	6503	SO:0001583	missense	65055				cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding	g.chr2:86459814G>A	AK023172	CCDS1989.1, CCDS54372.1, CCDS54373.1, CCDS54374.1	2p11.2	2014-09-17	2006-02-07	2006-02-07	ENSG00000068615	ENSG00000068615		"""Receptor accessory proteins"""	25786	protein-coding gene	gene with protein product	"""receptor expression enhancing protein 1"""	609139	"""chromosome 2 open reading frame 23"""	C2orf23		16271481, 15550249	Standard	NM_022912		Approved	FLJ13110, SPG31	uc002srh.4	Q9H902	OTTHUMG00000130205	ENST00000165698.5:c.529C>T	2.37:g.86459814G>A	ENSP00000165698:p.Arg177Trp					REEP1_ENST00000541910.1_Silent_p.G98G|REEP1_ENST00000538924.1_Missense_Mutation_p.R184W|REEP1_ENST00000540790.1_Missense_Mutation_p.R156W|REEP1_ENST00000535845.1_Missense_Mutation_p.R150W	p.R177W	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN			6	672	-			177					B7Z4D7|B7Z4F2|B7Z5R9|D6W5M2|Q53TI0	Missense_Mutation	SNP	ENST00000165698.5	37	c.529C>T	CCDS1989.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	20.9	4.062459	0.76187	0.003177	0.0	ENSG00000068615	ENST00000165698;ENST00000538924;ENST00000535845;ENST00000540790;ENST00000453231	D;D;D;D;D	0.88509	-2.37;-2.39;-1.53;-1.53;-2.34	5.48	1.18	0.20946	.	3.018540	0.01355	N	0.012046	D	0.94026	0.8086	.	.	.	0.30415	N	0.778655	D;D;D	0.76494	0.999;0.999;0.999	P;D;P	0.63488	0.756;0.915;0.853	T	0.82049	-0.0650	9	0.66056	D	0.02	.	13.1717	0.59602	0.0:0.0:0.4584:0.5416	.	150;156;177	B7Z5R9;F5H7Z9;Q9H902	.;.;REEP1_HUMAN	W	177;184;150;156;184	ENSP00000165698:R177W;ENSP00000438346:R184W;ENSP00000437567:R150W;ENSP00000443831:R156W;ENSP00000392197:R184W	ENSP00000165698:R177W	R	-	1	2	REEP1	86313325	0.254000	0.23992	0.926000	0.36857	0.929000	0.56500	0.630000	0.24553	0.305000	0.22832	0.655000	0.94253	CGG		0.637	REEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252523.2	NM_022912		10	52	0	0	0	0.058154	0	10	52				
PTPRJ	5795	broad.mit.edu	37	11	48161138	48161138	+	Silent	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr11:48161138G>A	ENST00000418331.2	+	11	2605	c.2253G>A	c.(2251-2253)gaG>gaA	p.E751E		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	751	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CAGGCTTTGAGCTGGAGGTCA	0.562																																						ENST00000418331.2																			0				breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(2251-2253)gaG>gaA		protein tyrosine phosphatase, receptor type, J							71.0	69.0	70.0					11																	48161138		2201	4298	6499	SO:0001819	synonymous_variant	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48161138G>A	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.2253G>A	11.37:g.48161138G>A							p.E751E	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN			11	2605	+			751			Fibronectin type-III 8.		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Silent	SNP	ENST00000418331.2	37	c.2253G>A	CCDS7945.1																																																																																				0.562	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			5	53	0	0	0	0.014758	0	5	53				
KIAA0319	9856	broad.mit.edu	37	6	24596291	24596291	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr6:24596291G>T	ENST00000378214.3	-	3	1135	c.611C>A	c.(610-612)gCg>gAg	p.A204E	KIAA0319_ENST00000535378.1_Missense_Mutation_p.A195E|KIAA0319_ENST00000430948.2_Missense_Mutation_p.A159E|KIAA0319_ENST00000537886.1_Missense_Mutation_p.A204E|KIAA0319_ENST00000543707.1_Missense_Mutation_p.A204E	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	204					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CGCTGGCACCGCAGGACTGTC	0.622																																						ENST00000535378.1																			0				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						c.(583-585)gCg>gAg		KIAA0319							39.0	35.0	37.0					6																	24596291		2203	4300	6503	SO:0001583	missense	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24596291G>T	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.611C>A	6.37:g.24596291G>T	ENSP00000367459:p.Ala204Glu					KIAA0319_ENST00000378214.3_Missense_Mutation_p.A204E|KIAA0319_ENST00000537886.1_Missense_Mutation_p.A204E|KIAA0319_ENST00000430948.2_Missense_Mutation_p.A159E|KIAA0319_ENST00000543707.1_Missense_Mutation_p.A204E	p.A195E	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN			4	1226	-			204					A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	c.584C>A	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	G	3.316	-0.139788	0.06669	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.06849	3.26;3.25;3.25;3.26;3.26	4.24	1.41	0.22369	.	1.495310	0.04213	N	0.332133	T	0.01592	0.0051	L	0.27053	0.805	0.09310	N	1	B;P;P	0.47191	0.099;0.891;0.826	B;B;B	0.41988	0.02;0.372;0.206	T	0.38308	-0.9667	10	0.07482	T	0.82	-0.7898	5.6827	0.17784	0.1738:0.0:0.5031:0.3231	.	204;195;204	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	E	204;195;159;204;204	ENSP00000439700:A204E;ENSP00000442403:A195E;ENSP00000401086:A159E;ENSP00000367459:A204E;ENSP00000437656:A204E	ENSP00000367459:A204E	A	-	2	0	KIAA0319	24704270	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.516000	0.22817	-0.315000	0.08703	-1.817000	0.00601	GCG		0.622	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		3	36	1	0	0.004672	0.115264	0.00490856	3	36				
SLC5A12	159963	broad.mit.edu	37	11	26743040	26743040	+	Silent	SNP	G	G	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr11:26743040G>T	ENST00000396005.3	-	1	531	c.222C>A	c.(220-222)gtC>gtA	p.V74V	SLC5A12_ENST00000280467.6_Silent_p.V74V	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	74					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CAAAGCGGTAGACTTCAGAAG	0.512																																						ENST00000396005.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						c.(220-222)gtC>gtA		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12							87.0	88.0	88.0					11																	26743040		2203	4299	6502	SO:0001819	synonymous_variant	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26743040G>T	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.222C>A	11.37:g.26743040G>T						SLC5A12_ENST00000280467.6_Silent_p.V74V	p.V74V	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN			1	531	-			74					Q86UC7	Silent	SNP	ENST00000396005.3	37	c.222C>A	CCDS7860.2																																																																																				0.512	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		7	74	1	0	1.26484e-09	0.038147	1.43811e-09	7	74				
GLB1L3	112937	broad.mit.edu	37	11	134181019	134181019	+	Silent	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr11:134181019G>A	ENST00000431683.2	+	13	1242	c.1242G>A	c.(1240-1242)ccG>ccA	p.P414P		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	414					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CCGTGAGACCGTCGCTGTACC	0.622																																						ENST00000431683.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13						c.(1240-1242)ccG>ccA		galactosidase, beta 1-like 3							204.0	209.0	208.0					11																	134181019		2033	4179	6212	SO:0001819	synonymous_variant	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134181019G>A		CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1242G>A	11.37:g.134181019G>A							p.P414P	NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)	13	1242	+	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)	414					A6NEM0|A6NN15|Q6P3S3|Q96FF8	Silent	SNP	ENST00000431683.2	37	c.1242G>A	CCDS44780.1																																																																																				0.622	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		22	364	0	0	0	0.116897	0	22	364				
PRAMEF2	65122	broad.mit.edu	37	1	12921405	12921405	+	Missense_Mutation	SNP	G	G	A	rs143742734	byFrequency	TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr1:12921405G>A	ENST00000240189.2	+	4	1283	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	399					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GACCTGCTGCGCCACACCAGT	0.557																																						ENST00000240189.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42						c.(1195-1197)cGc>cAc		PRAME family member 2		G	HIS/ARG	1,4403	2.1+/-5.4	0,1,2201	70.0	73.0	72.0		1196	-1.6	0.0	1	dbSNP_134	72	1,8591	2.2+/-6.3	0,1,4295	no	missense	PRAMEF2	NM_023014.1	29	0,2,6496	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	399/475	12921405	2,12994	2202	4296	6498	SO:0001583	missense	65122							g.chr1:12921405G>A		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.1196G>A	1.37:g.12921405G>A	ENSP00000240189:p.Arg399His						p.R399H	NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1283	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	399						Missense_Mutation	SNP	ENST00000240189.2	37	c.1196G>A	CCDS149.1	.	.	.	.	.	.	.	.	.	.	G	0.430	-0.903719	0.02453	2.27E-4	1.16E-4	ENSG00000120952	ENST00000240189	T	0.49432	0.78	0.824	-1.65	0.08291	.	1.555060	0.04295	N	0.346332	T	0.30634	0.0771	L	0.31578	0.945	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.08330	-1.0727	10	0.13470	T	0.59	.	4.0967	0.09995	0.6152:0.0:0.3848:0.0	.	399	O60811	PRAM2_HUMAN	H	399	ENSP00000240189:R399H	ENSP00000240189:R399H	R	+	2	0	PRAMEF2	12843992	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.445000	0.02401	-0.729000	0.04875	-1.252000	0.01501	CGC		0.557	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		19	124	0	0	0	0.049695	0	19	124				
STARD8	9754	broad.mit.edu	37	X	67937307	67937307	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chrX:67937307G>A	ENST00000252336.6	+	5	683	c.311G>A	c.(310-312)cGg>cAg	p.R104Q	STARD8_ENST00000374599.3_Missense_Mutation_p.R184Q|STARD8_ENST00000374597.3_Missense_Mutation_p.R104Q	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	104					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						TCGAGTGACCGGCCCCTCCTC	0.637																																						ENST00000252336.6																			0				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						c.(310-312)cGg>cAg		StAR-related lipid transfer (START) domain containing 8							46.0	42.0	44.0					X																	67937307		2203	4299	6502	SO:0001583	missense	9754				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	g.chrX:67937307G>A	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.311G>A	X.37:g.67937307G>A	ENSP00000252336:p.Arg104Gln					STARD8_ENST00000374597.3_Missense_Mutation_p.R104Q|STARD8_ENST00000374599.3_Missense_Mutation_p.R184Q	p.R104Q	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN			5	683	+			104					A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	37	c.311G>A	CCDS14390.1	.	.	.	.	.	.	.	.	.	.	g	0.010	-1.783780	0.00628	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.08008	3.14;3.15;3.14	4.06	-6.64	0.01801	.	1.910640	0.02498	N	0.090183	T	0.01627	0.0052	N	0.00347	-1.61	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.42531	-0.9446	10	0.19590	T	0.45	.	1.8383	0.03144	0.4914:0.1289:0.2501:0.1296	.	184;104	Q92502-2;Q92502	.;STAR8_HUMAN	Q	104;184;104	ENSP00000252336:R104Q;ENSP00000363727:R184Q;ENSP00000363725:R104Q	ENSP00000252336:R104Q	R	+	2	0	STARD8	67854032	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.134000	0.03228	-0.763000	0.04658	-0.386000	0.06593	CGG		0.637	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		8	26	0	0	0	0.069234	0	8	26				
FKBP9P1	360132	broad.mit.edu	37	7	55755596	55755596	+	RNA	SNP	G	G	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr7:55755596G>T	ENST00000455909.1	-	0	410				RNU6-389P_ENST00000517048.1_RNA	NR_027340.1|NR_027342.1		Q75LS8	FKB9L_HUMAN							protein folding (GO:0006457)		calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5						GAACAATACTGTAAGTTTTGC	0.478																																						ENST00000455909.1																			0				endometrium(1)|kidney(1)|lung(3)	5								FK506 binding protein 9-like							175.0	161.0	165.0					7																	55755596		692	1591	2283			360132							g.chr7:55755596G>T																													7.37:g.55755596G>T								NR_027340.1|NR_027342.1						0	410	-								B2R7H1	RNA	SNP	ENST00000455909.1	37																																																																																						0.478	FKBP9L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000251473.2			9	75	1	0	1.58986e-06	0.069234	1.78323e-06	9	75				
GLB1L3	112937	broad.mit.edu	37	11	134181019	134181019	+	Silent	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr11:134181019G>A	ENST00000431683.2	+	13	1242	c.1242G>A	c.(1240-1242)ccG>ccA	p.P414P		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	414					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CCGTGAGACCGTCGCTGTACC	0.622																																						ENST00000431683.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13						c.(1240-1242)ccG>ccA		galactosidase, beta 1-like 3							204.0	209.0	208.0					11																	134181019		2033	4179	6212	SO:0001819	synonymous_variant	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134181019G>A		CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1242G>A	11.37:g.134181019G>A							p.P414P	NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)	13	1242	+	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)	414					A6NEM0|A6NN15|Q6P3S3|Q96FF8	Silent	SNP	ENST00000431683.2	37	c.1242G>A	CCDS44780.1																																																																																				0.622	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		22	364	0	0	0	0.706142	0	22	364				
ERLIN2	11160	broad.mit.edu	37	8	37611003	37611003	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr8:37611003G>C	ENST00000276461.5	+	11	842	c.775G>C	c.(775-777)Gat>Cat	p.D259H	ERLIN2_ENST00000519638.1_Missense_Mutation_p.D259H	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	259	Interaction with ERLIN1.				cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GGCAAAGGCAGATGCTGAGTG	0.498																																						ENST00000276461.5																			0				NS(1)|large_intestine(1)|lung(5)	7						c.(775-777)Gat>Cat		ER lipid raft associated 2							63.0	57.0	59.0					8																	37611003		2203	4300	6503	SO:0001583	missense	11160				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding	g.chr8:37611003G>C	AY358108	CCDS6095.1, CCDS34879.1	8p11.2	2012-11-23	2007-01-26	2007-01-26	ENSG00000147475	ENSG00000147475			1356	protein-coding gene	gene with protein product		611605	"""chromosome 8 open reading frame 2"", ""SPFH domain family, member 2"""	C8orf2, SPFH2, Erlin-2		10449903, 15897872, 16835267	Standard	NM_007175		Approved	NET32, SPG18	uc003xke.4	O94905	OTTHUMG00000164005	ENST00000276461.5:c.775G>C	8.37:g.37611003G>C	ENSP00000276461:p.Asp259His					ERLIN2_ENST00000519638.1_Missense_Mutation_p.D259H	p.D259H	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		11	842	+		Lung NSC(58;0.174)	259			Interaction with ERLIN1.		A0JLQ1|A8K5S9|B4DM38|D3DSW0|Q6NW21|Q86VS6|Q86W49	Missense_Mutation	SNP	ENST00000276461.5	37	c.775G>C	CCDS6095.1	.	.	.	.	.	.	.	.	.	.	G	32	5.149903	0.94645	.	.	ENSG00000147475	ENST00000276461;ENST00000521644;ENST00000519638	T;T;T	0.69685	-0.42;-0.42;-0.42	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.84620	0.5512	M	0.84683	2.71	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.84430	0.0576	10	0.51188	T	0.08	-30.1351	20.4135	0.99023	0.0:0.0:1.0:0.0	.	259	O94905	ERLN2_HUMAN	H	259	ENSP00000276461:D259H;ENSP00000429621:D259H;ENSP00000428112:D259H	ENSP00000276461:D259H	D	+	1	0	ERLIN2	37730161	1.000000	0.71417	0.711000	0.30485	0.892000	0.51952	9.869000	0.99810	2.835000	0.97688	0.591000	0.81541	GAT		0.498	ERLIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376712.2	NM_007175		3	54	0	0	0	0.150653	0	3	54				
PKHD1	5314	broad.mit.edu	37	6	51612955	51612955	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr6:51612955A>C	ENST00000371117.3	-	58	9734	c.9459T>G	c.(9457-9459)ttT>ttG	p.F3153L	PKHD1_ENST00000340994.4_Missense_Mutation_p.F3153L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3153					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CACCATAGTCAAAGTTCTTGA	0.408																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(9457-9459)ttT>ttG		polycystic kidney and hepatic disease 1 (autosomal recessive)							171.0	183.0	179.0					6																	51612955		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51612955A>C	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.9459T>G	6.37:g.51612955A>C	ENSP00000360158:p.Phe3153Leu					PKHD1_ENST00000340994.4_Missense_Mutation_p.F3153L	p.F3153L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			58	9734	-	Lung NSC(77;0.0605)		3153					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.9459T>G	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	A	19.16	3.774468	0.70107	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.79454	-1.27;-1.27	5.86	4.71	0.59529	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.152670	0.47093	D	0.000256	T	0.65344	0.2682	M	0.63428	1.95	0.36792	D	0.884902	P;P;P	0.44281	0.711;0.663;0.831	B;B;B	0.44085	0.356;0.403;0.44	T	0.64943	-0.6288	10	0.29301	T	0.29	.	11.1111	0.48232	0.9281:0.0:0.0719:0.0	.	3153;3153;3153	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	L	3153	ENSP00000360158:F3153L;ENSP00000341097:F3153L	ENSP00000341097:F3153L	F	-	3	2	PKHD1	51720914	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.933000	0.40153	1.050000	0.40346	0.533000	0.62120	TTT		0.408	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		16	209	0	0	0	0.500413	0	16	209				
RNF103	7844	broad.mit.edu	37	2	86847496	86847496	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr2:86847496T>C	ENST00000237455.4	-	2	1291	c.323A>G	c.(322-324)tAt>tGt	p.Y108C	AC015971.2_ENST00000424788.1_RNA|RNF103-CHMP3_ENST00000604011.1_Missense_Mutation_p.Y30C|RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000439077.1_RNA|CHMP3_ENST00000439940.2_Missense_Mutation_p.Y30C	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	108					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						CACAAGCTCATAGAAGTGCAT	0.403																																						ENST00000237455.4																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						c.(322-324)tAt>tGt		ring finger protein 103							106.0	104.0	104.0					2																	86847496		2203	4300	6503	SO:0001583	missense	7844				central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:86847496T>C	D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"""RING-type (C3HC4) zinc fingers"""	12859	protein-coding gene	gene with protein product		602507	"""zinc finger protein 103 homolog (mouse)"""	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.323A>G	2.37:g.86847496T>C	ENSP00000237455:p.Tyr108Cys					RNF103_ENST00000477307.1_5'UTR|RNF103-CHMP3_ENST00000604011.1_Missense_Mutation_p.Y30C|CHMP3_ENST00000439940.2_Missense_Mutation_p.Y30C	p.Y108C	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN			2	1291	-			108					A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Missense_Mutation	SNP	ENST00000237455.4	37	c.323A>G	CCDS33237.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.587978	0.86851	.	.	ENSG00000115561;ENSG00000249884;ENSG00000239305	ENST00000439940;ENST00000440757;ENST00000237455	D;T;T	0.94650	-3.48;-1.41;0.77	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.96488	0.8854	L	0.60455	1.87	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.993;0.995	D	0.97000	0.9728	10	0.87932	D	0	-15.8084	16.27	0.82612	0.0:0.0:0.0:1.0	.	30;108	Q9Y3E7-3;O00237	.;RN103_HUMAN	C	30;108;108	ENSP00000405575:Y30C;ENSP00000392995:Y108C;ENSP00000237455:Y108C	ENSP00000237455:Y108C	Y	-	2	0	RNF103;VPS24;RNF103-VPS24	86701007	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.396000	0.79891	2.248000	0.74166	0.533000	0.62120	TAT		0.403	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2	NM_005667		11	71	0	0	0	0.387290	0	11	71				
FBXO38	81545	broad.mit.edu	37	5	147796680	147796680	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr5:147796680A>C	ENST00000340253.5	+	12	1699	c.1531A>C	c.(1531-1533)Aac>Cac	p.N511H	FBXO38_ENST00000296701.6_Missense_Mutation_p.N511H|FBXO38_ENST00000513826.1_Missense_Mutation_p.N511H|FBXO38_ENST00000394370.3_Missense_Mutation_p.N511H			Q6PIJ6	FBX38_HUMAN	F-box protein 38	511					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCACGACAACAATCACCA	0.473																																						ENST00000340253.5																		ATG4C/FBXO38(2)	0				NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51						c.(1531-1533)Aac>Cac		F-box protein 38							165.0	137.0	146.0					5																	147796680		2203	4300	6503	SO:0001583	missense	81545					cytoplasm|nucleus		g.chr5:147796680A>C	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.1531A>C	5.37:g.147796680A>C	ENSP00000342023:p.Asn511His					FBXO38_ENST00000394370.3_Missense_Mutation_p.N511H|FBXO38_ENST00000513826.1_Missense_Mutation_p.N511H|FBXO38_ENST00000296701.6_Missense_Mutation_p.N511H	p.N511H			Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		12	1699	+			511					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	ENST00000340253.5	37	c.1531A>C		.	.	.	.	.	.	.	.	.	.	A	19.19	3.779461	0.70107	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.34472	1.36;1.38;1.36;1.38	5.52	4.32	0.51571	.	0.190814	0.53938	N	0.000051	T	0.40473	0.1118	L	0.29908	0.895	0.53005	D	0.999964	B;D;B	0.58620	0.004;0.983;0.004	B;P;B	0.58331	0.004;0.837;0.008	T	0.13282	-1.0515	10	0.40728	T	0.16	-13.4357	10.9619	0.47389	0.8429:0.157:0.0:0.0	.	511;511;511	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	H	511	ENSP00000342023:N511H;ENSP00000296701:N511H;ENSP00000377895:N511H;ENSP00000426410:N511H	ENSP00000296701:N511H	N	+	1	0	FBXO38	147776873	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.792000	0.55476	0.980000	0.38523	0.383000	0.25322	AAC		0.473	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		12	31	0	0	0	0.387290	0	12	31				
C10orf55	414236	broad.mit.edu	37	10	75673797	75673797	+	Intron	SNP	A	A	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr10:75673797A>G	ENST00000409178.1	-	3	268				C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372762.4_Missense_Mutation_p.N211S|PLAU_ENST00000372764.3_Missense_Mutation_p.N247S|PLAU_ENST00000446342.1_Missense_Mutation_p.N230S	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55											endometrium(1)	1	Prostate(51;0.0112)					CTTAACTCCAACACGCAAGGG	0.502																																						ENST00000446342.1																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16						c.(688-690)aAc>aGc		plasminogen activator, urokinase	Amiloride(DB00594)|Urokinase(DB00013)						116.0	90.0	99.0					10																	75673797		2203	4300	6503	SO:0001627	intron_variant	5328				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr10:75673797A>G		CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.73-964T>C	10.37:g.75673797A>G						C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000372762.4_Missense_Mutation_p.N211S|PLAU_ENST00000372764.3_Missense_Mutation_p.N247S|C10orf55_ENST00000412307.2_Intron	p.N230S	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN			7	1171	+	Prostate(51;0.0112)		247			Peptidase S1.		Q3KRG4|Q8NAK4	Missense_Mutation	SNP	ENST00000409178.1	37	c.689A>G	CCDS53541.1	.	.	.	.	.	.	.	.	.	.	A	7.336	0.619954	0.14193	.	.	ENSG00000122861	ENST00000446342;ENST00000372764;ENST00000372762;ENST00000372761	D;D;D	0.88046	-2.33;-2.33;-2.33	5.37	-10.7	0.00240	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.024820	0.01965	N	0.043649	T	0.64416	0.2596	N	0.11284	0.12	0.09310	N	0.999999	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.001	T	0.62144	-0.6916	10	0.09338	T	0.73	.	0.7493	0.00987	0.1742:0.2989:0.2062:0.3207	.	230;211;247;247	E7ET40;E7ESM2;B2R7F2;P00749	.;.;.;UROK_HUMAN	S	230;247;211;211	ENSP00000388474:N230S;ENSP00000361850:N247S;ENSP00000361848:N211S	ENSP00000361847:N211S	N	+	2	0	PLAU	75343803	0.000000	0.05858	0.000000	0.03702	0.137000	0.21094	-3.273000	0.00531	-2.557000	0.00476	-0.336000	0.08194	AAC		0.502	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1	NM_001001791		6	54	0	0	0	0.217242	0	6	54				
FRG1B	284802	broad.mit.edu	37	20	29633899	29633899	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr20:29633899G>A	ENST00000278882.3	+	9	918	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	FRG1B_ENST00000358464.4_Splice_Site_p.E180K			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	180										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TTAAACAAGAGAACCAAATTG	0.269																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.e9-1																																						SO:0001630	splice_region_variant	0							g.chr20:29633899G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.537-1G>A	20.37:g.29633899G>A						FRG1B_ENST00000358464.4_Splice_Site_p.E180_splice	p.E180_splice							9	918	+								C4AME5	Splice_Site	SNP	ENST00000278882.3	37	c.536_splice		.	.	.	.	.	.	.	.	.	.	g	9.008	0.981734	0.18812	.	.	ENSG00000149531	ENST00000278882;ENST00000358464	.	.	.	1.62	1.62	0.23740	.	.	.	.	.	T	0.44008	0.1273	.	.	.	0.23758	N	0.996927	.	.	.	.	.	.	T	0.39231	-0.9624	5	0.72032	D	0.01	.	9.2539	0.37571	0.0:0.0:1.0:0.0	.	.	.	.	K	180	.	ENSP00000278882:E180K	E	+	1	0	FRG1B	28247560	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	7.782000	0.85680	1.206000	0.43276	0.502000	0.49764	GAA		0.269	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	Missense_Mutation	3	40	0	0	0	0.150653	0	3	40				
DAPK1	1612	broad.mit.edu	37	9	90261436	90261436	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr9:90261436C>G	ENST00000408954.3	+	13	1527	c.1192C>G	c.(1192-1194)Ctc>Gtc	p.L398V	DAPK1_ENST00000469640.2_Missense_Mutation_p.L398V|DAPK1_ENST00000358077.5_Missense_Mutation_p.L398V|DAPK1_ENST00000491893.1_Missense_Mutation_p.L398V|DAPK1_ENST00000472284.1_Missense_Mutation_p.L398V	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	398					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						ACTACAGTTGCTCATTAAAAG	0.343									Chronic Lymphocytic Leukemia, Familial Clustering of																													ENST00000469640.2																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(1192-1194)Ctc>Gtc		death-associated protein kinase 1							98.0	92.0	94.0					9																	90261436		1850	4090	5940	SO:0001583	missense	1612	Chronic Lymphocytic Leukemia, Familial Clustering of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90261436C>G	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.1192C>G	9.37:g.90261436C>G	ENSP00000386135:p.Leu398Val					DAPK1_ENST00000358077.5_Missense_Mutation_p.L398V|DAPK1_ENST00000491893.1_Missense_Mutation_p.L398V|DAPK1_ENST00000408954.3_Missense_Mutation_p.L398V|DAPK1_ENST00000472284.1_Missense_Mutation_p.L398V	p.L398V			P53355	DAPK1_HUMAN			13	1567	+			398					B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	c.1192C>G	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253968	0.59212	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	D;D;D;D;D	0.86030	-2.06;-2.06;-1.75;-2.06;-1.75	5.02	5.02	0.67125	Ankyrin repeat-containing domain (4);	0.000000	0.45361	D	0.000371	D	0.92107	0.7498	M	0.93678	3.445	0.58432	D	0.99999	D;P;P	0.55800	0.973;0.58;0.762	P;B;B	0.54499	0.754;0.298;0.301	D	0.93527	0.6866	10	0.87932	D	0	.	13.2341	0.59958	0.0:0.9237:0.0:0.0763	.	398;398;398	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	V	398	ENSP00000350785:L398V;ENSP00000417076:L398V;ENSP00000418885:L398V;ENSP00000386135:L398V;ENSP00000419026:L398V	ENSP00000350785:L398V	L	+	1	0	DAPK1	89451256	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.260000	0.51523	2.773000	0.95371	0.655000	0.94253	CTC		0.343	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		14	58	0	0	0	0.520397	0	14	58				
MN1	4330	broad.mit.edu	37	22	28196380	28196380	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr22:28196380G>A	ENST00000302326.4	-	1	1106	c.152C>T	c.(151-153)gCt>gTt	p.A51V		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	51					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CGCGCTCATAGCAGGATCCAC	0.647			T	ETV6	"""AML, meningioma"""																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		"""AML, meningioma"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(151-153)gCt>gTt		meningioma (disrupted in balanced translocation) 1							55.0	62.0	60.0					22																	28196380		1912	4117	6029	SO:0001583	missense	4330						binding	g.chr22:28196380G>A	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.152C>T	22.37:g.28196380G>A	ENSP00000304956:p.Ala51Val						p.A51V	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	1106	-			51					A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	c.152C>T	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830427	0.50845	.	.	ENSG00000169184	ENST00000302326	T	0.72505	-0.66	4.74	3.69	0.42338	.	0.134339	0.49916	D	0.000132	T	0.56352	0.1979	N	0.19112	0.55	0.30923	N	0.727811	B	0.22414	0.069	B	0.21360	0.034	T	0.60255	-0.7299	10	0.59425	D	0.04	-8.1729	13.6175	0.62118	0.0:0.1574:0.8426:0.0	.	51	Q10571	MN1_HUMAN	V	51	ENSP00000304956:A51V	ENSP00000304956:A51V	A	-	2	0	MN1	26526380	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	3.083000	0.50136	1.057000	0.40506	0.462000	0.41574	GCT		0.647	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		6	81	0	0	0	0.248553	0	6	81				
MGAT5B	146664	broad.mit.edu	37	17	74928777	74928777	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr17:74928777G>A	ENST00000569840.2	+	11	1916	c.1342G>A	c.(1342-1344)Gag>Aag	p.E448K	MGAT5B_ENST00000428789.2_Missense_Mutation_p.E459K|MGAT5B_ENST00000301618.4_Missense_Mutation_p.E448K	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	448					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGAGCTCAACGAGACGGAGAA	0.627																																						ENST00000569840.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1342-1344)Gag>Aag		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B							103.0	88.0	93.0					17																	74928777		2203	4300	6503	SO:0001583	missense	146664					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr17:74928777G>A	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.1342G>A	17.37:g.74928777G>A	ENSP00000456037:p.Glu448Lys					MGAT5B_ENST00000301618.4_Missense_Mutation_p.E448K|MGAT5B_ENST00000428789.2_Missense_Mutation_p.E459K	p.E448K	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN			11	1916	+			448					Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	37	c.1342G>A	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	G	9.749	1.166984	0.21621	.	.	ENSG00000167889	ENST00000301618;ENST00000428789	T;T	0.42513	0.98;0.97	4.29	3.2	0.36748	.	0.544240	0.17737	N	0.163692	T	0.17109	0.0411	N	0.12961	0.28	0.37894	D	0.93082	B;P	0.46656	0.259;0.882	B;B	0.33890	0.063;0.172	T	0.08330	-1.0727	10	0.09843	T	0.71	-18.128	7.833	0.29353	0.0:0.173:0.653:0.174	.	459;448	Q3V5L5-2;Q3V5L5-5	.;.	K	448;459	ENSP00000301618:E448K;ENSP00000391227:E459K	ENSP00000301618:E448K	E	+	1	0	MGAT5B	72440372	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.811000	0.38942	1.910000	0.55303	0.462000	0.41574	GAG		0.627	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677		6	93	0	0	0	0.248553	0	6	93				
CAMSAP3	57662	broad.mit.edu	37	19	7682254	7682254	+	Silent	SNP	T	T	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr19:7682254T>C	ENST00000160298.4	+	15	3356	c.3255T>C	c.(3253-3255)ccT>ccC	p.P1085P	CAMSAP3_ENST00000446248.2_Silent_p.P1112P	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	1085					epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GCCGCCTGCCTGGAAGCCGCG	0.637																																						ENST00000446248.2																			0				cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						c.(3334-3336)ccT>ccC		calmodulin regulated spectrin-associated protein family, member 3							66.0	75.0	72.0					19																	7682254		2036	4181	6217	SO:0001819	synonymous_variant	57662				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	g.chr19:7682254T>C	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.3255T>C	19.37:g.7682254T>C						CAMSAP3_ENST00000160298.4_Silent_p.P1085P	p.P1112P	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN			17	3437	+			1085			CKK.		Q8NDF1	Silent	SNP	ENST00000160298.4	37	c.3336T>C	CCDS42489.1																																																																																				0.637	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362		4	68	0	0	0	0.184627	0	4	68				
SPTB	6710	broad.mit.edu	37	14	65246524	65246524	+	Silent	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr14:65246524C>T	ENST00000389721.5	-	20	4424	c.4392G>A	c.(4390-4392)ctG>ctA	p.L1464L	SPTB_ENST00000542895.1_Silent_p.L1464L|SPTB_ENST00000389720.3_Silent_p.L1464L|SPTB_ENST00000556626.1_Silent_p.L1464L|SPTB_ENST00000389722.3_Silent_p.L1464L	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1464					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTAGGGGTTCCAGGAGGTCCA	0.582																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(4390-4392)ctG>ctA		spectrin, beta, erythrocytic							142.0	133.0	136.0					14																	65246524		2203	4300	6503	SO:0001819	synonymous_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65246524C>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.4392G>A	14.37:g.65246524C>T						SPTB_ENST00000542895.1_Silent_p.L1464L|SPTB_ENST00000389720.3_Silent_p.L1464L|SPTB_ENST00000389721.5_Silent_p.L1464L|SPTB_ENST00000556626.1_Silent_p.L1464L	p.L1464L	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	20	4445	-		all_lung(585;4.15e-09)	1464					Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	c.4392G>A	CCDS32100.1																																																																																				0.582	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			6	133	0	0	0	0.217242	0	6	133				
CHGB	1114	broad.mit.edu	37	20	5897548	5897548	+	Missense_Mutation	SNP	G	G	A	rs139177513		TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr20:5897548G>A	ENST00000378961.4	+	3	377	c.173G>A	c.(172-174)cGc>cAc	p.R58H	CHGB_ENST00000488832.1_3'UTR	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	58						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CCTGAGTGCCGCCAAGTCCTG	0.552																																						ENST00000378961.4																			0				breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						c.(172-174)cGc>cAc		chromogranin B (secretogranin 1)		G	HIS/ARG	0,4406		0,0,2203	123.0	94.0	104.0		173	5.8	1.0	20	dbSNP_134	104	3,8597	3.0+/-9.4	0,3,4297	yes	missense	CHGB	NM_001819.2	29	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	58/678	5897548	3,13003	2203	4300	6503	SO:0001583	missense	1114					extracellular region	hormone activity	g.chr20:5897548G>A		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.173G>A	20.37:g.5897548G>A	ENSP00000368244:p.Arg58His					CHGB_ENST00000488832.1_3'UTR	p.R58H	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN			3	377	+			58					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	ENST00000378961.4	37	c.173G>A	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377352	0.82682	0.0	3.49E-4	ENSG00000089199	ENST00000378961;ENST00000455042	T;T	0.01947	4.54;4.54	5.79	5.79	0.91817	.	0.156902	0.42420	D	0.000716	T	0.10809	0.0264	M	0.71581	2.175	0.32531	N	0.534965	D	0.89917	1.0	D	0.85130	0.997	T	0.01015	-1.1480	10	0.72032	D	0.01	-16.1753	11.3624	0.49651	0.1143:0.0:0.8857:0.0	.	58	P05060	SCG1_HUMAN	H	58;38	ENSP00000368244:R58H;ENSP00000416643:R38H	ENSP00000368244:R58H	R	+	2	0	CHGB	5845548	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	2.571000	0.45990	2.735000	0.93741	0.655000	0.94253	CGC		0.552	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		20	88	0	0	0	0.592651	0	20	88				
PKD1	5310	broad.mit.edu	37	16	2162937	2162937	+	Missense_Mutation	SNP	C	C	T	rs370648270		TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr16:2162937C>T	ENST00000262304.4	-	13	3221	c.3013G>A	c.(3013-3015)Gtc>Atc	p.V1005I	PKD1_ENST00000423118.1_Missense_Mutation_p.V1005I|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1005	PKD 4. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTCACGGTGACGTTGCTCACG	0.642																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(3013-3015)Gtc>Atc		polycystic kidney disease 1 (autosomal dominant)		C	ILE/VAL,ILE/VAL	0,4394		0,0,2197	112.0	101.0	104.0		3013,3013	3.9	0.2	16		104	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PKD1	NM_000296.3,NM_001009944.2	29,29	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	1005/4303,1005/4304	2162937	1,12993	2197	4300	6497	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2162937C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.3013G>A	16.37:g.2162937C>T	ENSP00000262304:p.Val1005Ile					RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.V1005I	p.V1005I	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			13	3221	-			1005			PKD 4.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.3013G>A	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	c	8.631	0.893743	0.17613	0.0	1.16E-4	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.61274	0.12;0.12	4.83	3.87	0.44632	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (3);	0.333406	0.29328	N	0.012470	T	0.29783	0.0744	N	0.08118	0	0.20074	N	0.999931	B;B	0.29627	0.252;0.1	B;B	0.23716	0.048;0.036	T	0.16305	-1.0407	10	0.11485	T	0.65	.	8.3141	0.32088	0.1645:0.749:0.0:0.0864	.	1005;1005	P98161-3;P98161	.;PKD1_HUMAN	I	1005;1005;720	ENSP00000262304:V1005I;ENSP00000399501:V1005I	ENSP00000262304:V1005I	V	-	1	0	PKD1	2102938	0.812000	0.29077	0.250000	0.24296	0.138000	0.21146	1.396000	0.34531	1.010000	0.39314	0.645000	0.84053	GTC		0.642	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			4	48	0	0	0	0.184627	0	4	48				
AXIN2	8313	broad.mit.edu	37	17	63553974	63553974	+	Silent	SNP	C	C	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr17:63553974C>G	ENST00000375702.5	-	1	873	c.765G>C	c.(763-765)ctG>ctC	p.L255L	AXIN2_ENST00000307078.5_Silent_p.L255L|CTD-2535L24.2_ENST00000577662.1_3'UTR			Q9Y2T1	AXIN2_HUMAN	axin 2	255					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						CCGTGGCCCTCAGAGTTTTGC	0.547									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													ENST00000307078.5																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(763-765)ctG>ctC		axin 2							84.0	80.0	81.0					17																	63553974		2203	4300	6503	SO:0001819	synonymous_variant	8313	Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63553974C>G	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.765G>C	17.37:g.63553974C>G						AXIN2_ENST00000375702.5_Silent_p.L255L|CTD-2535L24.2_ENST00000577662.1_3'UTR	p.L255L	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN			2	1078	-			255					Q3MJ88|Q9H3M6|Q9UH84	Silent	SNP	ENST00000375702.5	37	c.765G>C																																																																																					0.547	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		5	98	0	0	0	0.278610	0	5	98				
ERLIN2	11160	broad.mit.edu	37	8	37602094	37602094	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr8:37602094G>A	ENST00000276461.5	+	6	371	c.304G>A	c.(304-306)Gat>Aat	p.D102N	ERLIN2_ENST00000518586.1_Missense_Mutation_p.D102N|ERLIN2_ENST00000335171.6_Missense_Mutation_p.D102N|ERLIN2_ENST00000523887.1_Missense_Mutation_p.D102N|ERLIN2_ENST00000523107.1_Missense_Mutation_p.D102N|ERLIN2_ENST00000397228.2_Missense_Mutation_p.D102N|ERLIN2_ENST00000519638.1_Missense_Mutation_p.D102N	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	102					cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CTCAGTGTATGATATAGTGAA	0.478																																						ENST00000276461.5																			0				NS(1)|large_intestine(1)|lung(5)	7						c.(304-306)Gat>Aat		ER lipid raft associated 2							126.0	115.0	119.0					8																	37602094		2203	4300	6503	SO:0001583	missense	11160				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding	g.chr8:37602094G>A	AY358108	CCDS6095.1, CCDS34879.1	8p11.2	2012-11-23	2007-01-26	2007-01-26	ENSG00000147475	ENSG00000147475			1356	protein-coding gene	gene with protein product		611605	"""chromosome 8 open reading frame 2"", ""SPFH domain family, member 2"""	C8orf2, SPFH2, Erlin-2		10449903, 15897872, 16835267	Standard	NM_007175		Approved	NET32, SPG18	uc003xke.4	O94905	OTTHUMG00000164005	ENST00000276461.5:c.304G>A	8.37:g.37602094G>A	ENSP00000276461:p.Asp102Asn					ERLIN2_ENST00000523107.1_Missense_Mutation_p.D102N|ERLIN2_ENST00000335171.6_Missense_Mutation_p.D102N|ERLIN2_ENST00000397228.2_Missense_Mutation_p.D102N|ERLIN2_ENST00000519638.1_Missense_Mutation_p.D102N|ERLIN2_ENST00000518586.1_Missense_Mutation_p.D102N|ERLIN2_ENST00000523887.1_Missense_Mutation_p.D102N	p.D102N	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		6	371	+		Lung NSC(58;0.174)	102					A0JLQ1|A8K5S9|B4DM38|D3DSW0|Q6NW21|Q86VS6|Q86W49	Missense_Mutation	SNP	ENST00000276461.5	37	c.304G>A	CCDS6095.1	.	.	.	.	.	.	.	.	.	.	G	36	5.817997	0.96982	.	.	ENSG00000147475	ENST00000397228;ENST00000518526;ENST00000523887;ENST00000276461;ENST00000518586;ENST00000335171;ENST00000521644;ENST00000519638	D;D;D;D;D;D;D;D	0.94457	-3.43;-3.43;-3.43;-3.43;-3.43;-3.43;-3.43;-3.43	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.96327	0.8802	M	0.69358	2.11	0.80722	D	1	D;D;B	0.69078	0.997;0.996;0.138	D;D;B	0.80764	0.994;0.956;0.073	D	0.91992	0.5604	10	0.02654	T	1	-29.5069	20.8598	0.99761	0.0:0.0:1.0:0.0	.	102;102;102	O94905;O94905-3;O94905-2	ERLN2_HUMAN;.;.	N	102;59;102;102;102;102;102;102	ENSP00000380405:D102N;ENSP00000429229:D59N;ENSP00000429903:D102N;ENSP00000276461:D102N;ENSP00000427847:D102N;ENSP00000335220:D102N;ENSP00000429621:D102N;ENSP00000428112:D102N	ENSP00000276461:D102N	D	+	1	0	ERLIN2	37721252	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	9.858000	0.99539	2.937000	0.99478	0.650000	0.86243	GAT		0.478	ERLIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376712.2	NM_007175		11	115	0	0	0	0.435327	0	11	115				
SCN1A	6323	broad.mit.edu	37	2	166859166	166859166	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr2:166859166T>C	ENST00000303395.4	-	21	4099	c.4100A>G	c.(4099-4101)aAt>aGt	p.N1367S	SCN1A_ENST00000423058.2_Missense_Mutation_p.N1367S|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.N1356S|SCN1A_ENST00000409050.1_Missense_Mutation_p.N1339S			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1367			N -> K (in EIEE6; dbSNP:rs121918760). {ECO:0000269|PubMed:20522430}.		adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGCAAACAAATTTACGCCCAT	0.388																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(4099-4101)aAt>aGt		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						96.0	95.0	95.0					2																	166859166		2203	4299	6502	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166859166T>C	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.4100A>G	2.37:g.166859166T>C	ENSP00000303540:p.Asn1367Ser					AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.N1339S|SCN1A_ENST00000375405.3_Missense_Mutation_p.N1356S|SCN1A_ENST00000303395.4_Missense_Mutation_p.N1367S	p.N1367S	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			21	4117	-			1367		N -> K (in SMEI; dbSNP:rs121918760).			E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.4100A>G	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.238904	0.79800	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98381	-4.9;-4.9;-4.9;-4.9	5.54	5.54	0.83059	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98807	0.9598	M	0.78801	2.425	0.58432	D	0.999998	D;D;D	0.69078	0.984;0.997;0.972	P;D;P	0.80764	0.801;0.994;0.874	D	0.99837	1.1058	10	0.66056	D	0.02	.	15.9597	0.79918	0.0:0.0:0.0:1.0	.	1356;1339;1367	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	S	1367;1367;1356;1339	ENSP00000407030:N1367S;ENSP00000303540:N1367S;ENSP00000364554:N1356S;ENSP00000386312:N1339S	ENSP00000303540:N1367S	N	-	2	0	SCN1A	166567412	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.994000	0.88315	2.226000	0.72624	0.482000	0.46254	AAT		0.388	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		6	68	0	0	0	0.248553	0	6	68				
TTN	7273	broad.mit.edu	37	2	179605764	179605764	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr2:179605764C>G	ENST00000591111.1	-	46	11469	c.11245G>C	c.(11245-11247)Gac>Cac	p.D3749H	TTN_ENST00000359218.5_Missense_Mutation_p.D3828H|TTN_ENST00000460472.2_Missense_Mutation_p.D3703H|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D4066H|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D3895H			Q8WZ42	TITIN_HUMAN	titin	33913					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)			TGCTCTGAGTCAAGTGCTTCA	0.438																																						ENST00000589042.1																			0				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						c.(12196-12198)Gac>Cac		titin							155.0	150.0	151.0					2																	179605764		1851	4106	5957	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179605764C>G	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.11245G>C	2.37:g.179605764C>G	ENSP00000465570:p.Asp3749His					TTN_ENST00000342175.6_Missense_Mutation_p.D3895H|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D3749H|TTN_ENST00000359218.5_Missense_Mutation_p.D3828H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D3703H	p.D4066H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		48	12420	-			3749					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.12196G>C		.	.	.	.	.	.	.	.	.	.	C	2.663	-0.279289	0.05642	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.63580	0.06;-0.05;-0.02	5.61	2.68	0.31781	.	.	.	.	.	T	0.46560	0.1399	L	0.27053	0.805	0.09310	N	1	B;B;B	0.22480	0.07;0.07;0.07	B;B;B	0.28638	0.05;0.05;0.092	T	0.44711	-0.9310	9	0.87932	D	0	.	3.7297	0.08488	0.1382:0.5794:0.1338:0.1486	.	3703;3828;3895	D3DPF9;E7EQE6;E7ET18	.;.;.	H	3703;3895;3828;3703	ENSP00000434586:D3703H;ENSP00000340554:D3895H;ENSP00000352154:D3828H	ENSP00000340554:D3895H	D	-	1	0	TTN	179314009	0.000000	0.05858	0.036000	0.18154	0.076000	0.17211	0.329000	0.19698	0.843000	0.35070	-0.150000	0.13652	GAC		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		48	132	0	0	0	0.870114	0	48	132				
CFAP46	54777	broad.mit.edu	37	10	134622066	134622066	+	Silent	SNP	C	C	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr10:134622066C>G	ENST00000368586.5	-	58	8107	c.8007G>C	c.(8005-8007)ctG>ctC	p.L2669L	TTC40_ENST00000263170.5_Silent_p.L830L	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						ATGGCGCACACAGGCAGGCAG	0.706																																						ENST00000368586.5																			0				breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						c.(8005-8007)ctG>ctC		tetratricopeptide repeat domain 40							28.0	34.0	32.0					10																	134622066		2202	4298	6500	SO:0001819	synonymous_variant	54777							g.chr10:134622066C>G																												ENST00000368586.5:c.8007G>C	10.37:g.134622066C>G						TTC40_ENST00000263170.5_Silent_p.L830L	p.L2669L	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN			58	8107	-			830						Silent	SNP	ENST00000368586.5	37	c.8007G>C	CCDS58101.1																																																																																				0.706	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3			11	52	0	0	0	0.361761	0	11	52				
KCNA6	3742	broad.mit.edu	37	12	4919943	4919943	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr12:4919943G>A	ENST00000280684.3	+	1	1602	c.736G>A	c.(736-738)Ggg>Agg	p.G246R	KCNA6_ENST00000433855.1_Missense_Mutation_p.G246R|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	246					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	AATGGGGACCGGGGGCTCCTC	0.547										HNSCC(72;0.22)																												ENST00000433855.1																			0				NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						c.(736-738)Ggg>Agg		potassium voltage-gated channel, shaker-related subfamily, member 6							89.0	96.0	94.0					12																	4919943		2203	4300	6503	SO:0001583	missense	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4919943G>A	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.736G>A	12.37:g.4919943G>A	ENSP00000280684:p.Gly246Arg	HNSCC(72;0.22)				KCNA6_ENST00000280684.3_Missense_Mutation_p.G246R	p.G246R	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN			1	1602	+			246						Missense_Mutation	SNP	ENST00000280684.3	37	c.736G>A	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	G	0.902	-0.722042	0.03182	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.97232	-4.3;-4.3	4.97	4.08	0.47627	.	.	.	.	.	D	0.92509	0.7621	L	0.40543	1.245	0.09310	N	0.999997	B	0.06786	0.001	B	0.04013	0.001	T	0.81393	-0.0953	9	0.09590	T	0.72	.	5.2312	0.15422	0.1811:0.1859:0.633:0.0	.	246	P17658	KCNA6_HUMAN	R	246	ENSP00000408321:G246R;ENSP00000280684:G246R	ENSP00000280684:G246R	G	+	1	0	KCNA6	4790204	0.971000	0.33674	0.051000	0.19133	0.004000	0.04260	2.982000	0.49337	1.318000	0.45170	0.655000	0.94253	GGG		0.547	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		5	113	0	0	0	0.248553	0	5	113				
RHOJ	57381	broad.mit.edu	37	14	63671716	63671716	+	Silent	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr14:63671716C>T	ENST00000316754.3	+	1	591	c.129C>T	c.(127-129)aaC>aaT	p.N43N	RHOJ_ENST00000555125.1_Silent_p.N43N|RHOJ_ENST00000557133.1_3'UTR	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	43					actin cytoskeleton organization (GO:0030036)|GTP catabolic process (GO:0006184)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		GCTACGCCAACGACGCCTTCC	0.572																																						ENST00000316754.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21						c.(127-129)aaC>aaT		ras homolog family member J							131.0	103.0	112.0					14																	63671716		2203	4300	6503	SO:0001819	synonymous_variant	57381				actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity	g.chr14:63671716C>T	AK027351	CCDS9757.1	14q23.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000126785	ENSG00000126785			688	protein-coding gene	gene with protein product		607653	"""RAS-like, family 7, member B"", ""ras homolog gene family, member J"""	RASL7B, ARHJ		10967094	Standard	NM_020663		Approved	FLJ14445, TCL	uc001xgb.2	Q9H4E5	OTTHUMG00000140342	ENST00000316754.3:c.129C>T	14.37:g.63671716C>T						RHOJ_ENST00000557133.1_3'UTR|RHOJ_ENST00000555125.1_Silent_p.N43N	p.N43N	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)	1	591	+			43					Q96KC1	Silent	SNP	ENST00000316754.3	37	c.129C>T	CCDS9757.1																																																																																				0.572	RHOJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276975.3			7	50	0	0	0	0.307466	0	7	50				
ERLIN2	11160	broad.mit.edu	37	8	37602102	37602102	+	Silent	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr8:37602102G>A	ENST00000276461.5	+	6	379	c.312G>A	c.(310-312)gtG>gtA	p.V104V	ERLIN2_ENST00000518586.1_Silent_p.V104V|ERLIN2_ENST00000335171.6_Silent_p.V104V|ERLIN2_ENST00000523887.1_Silent_p.V104V|ERLIN2_ENST00000523107.1_Silent_p.V104V|ERLIN2_ENST00000397228.2_Silent_p.V104V|ERLIN2_ENST00000519638.1_Silent_p.V104V	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	104					cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			ATGATATAGTGAAGAACTATA	0.478																																						ENST00000276461.5																			0				NS(1)|large_intestine(1)|lung(5)	7						c.(310-312)gtG>gtA		ER lipid raft associated 2							127.0	114.0	119.0					8																	37602102		2203	4300	6503	SO:0001819	synonymous_variant	11160				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding	g.chr8:37602102G>A	AY358108	CCDS6095.1, CCDS34879.1	8p11.2	2012-11-23	2007-01-26	2007-01-26	ENSG00000147475	ENSG00000147475			1356	protein-coding gene	gene with protein product		611605	"""chromosome 8 open reading frame 2"", ""SPFH domain family, member 2"""	C8orf2, SPFH2, Erlin-2		10449903, 15897872, 16835267	Standard	NM_007175		Approved	NET32, SPG18	uc003xke.4	O94905	OTTHUMG00000164005	ENST00000276461.5:c.312G>A	8.37:g.37602102G>A						ERLIN2_ENST00000523107.1_Silent_p.V104V|ERLIN2_ENST00000335171.6_Silent_p.V104V|ERLIN2_ENST00000397228.2_Silent_p.V104V|ERLIN2_ENST00000519638.1_Silent_p.V104V|ERLIN2_ENST00000518586.1_Silent_p.V104V|ERLIN2_ENST00000523887.1_Silent_p.V104V	p.V104V	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		6	379	+		Lung NSC(58;0.174)	104					A0JLQ1|A8K5S9|B4DM38|D3DSW0|Q6NW21|Q86VS6|Q86W49	Silent	SNP	ENST00000276461.5	37	c.312G>A	CCDS6095.1																																																																																				0.478	ERLIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376712.2	NM_007175		10	120	0	0	0	0.411799	0	10	120				
ADCY8	114	broad.mit.edu	37	8	131916039	131916039	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr8:131916039A>T	ENST00000286355.5	-	7	3982	c.1890T>A	c.(1888-1890)gaT>gaA	p.D630E	ADCY8_ENST00000377928.3_Missense_Mutation_p.D630E	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	630					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCACGATATTATCAAAGGGCA	0.502										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(1888-1890)gaT>gaA		adenylate cyclase 8 (brain)							108.0	95.0	99.0					8																	131916039		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131916039A>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1890T>A	8.37:g.131916039A>T	ENSP00000286355:p.Asp630Glu	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Missense_Mutation_p.D630E	p.D630E	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		7	3982	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		630						Missense_Mutation	SNP	ENST00000286355.5	37	c.1890T>A	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	A	11.81	1.751091	0.31046	.	.	ENSG00000155897	ENST00000286355;ENST00000377928;ENST00000522949	T;T;T	0.79247	-0.98;-0.98;-1.25	6.08	3.65	0.41850	.	0.163770	0.56097	D	0.000021	T	0.52725	0.1752	N	0.04508	-0.205	0.33558	D	0.596932	P;B	0.36789	0.57;0.288	B;B	0.39503	0.301;0.1	T	0.58719	-0.7587	10	0.06625	T	0.88	.	8.6731	0.34163	0.832:0.0:0.168:0.0	.	630;630	E7EVL1;P40145	.;ADCY8_HUMAN	E	630;630;245	ENSP00000286355:D630E;ENSP00000367161:D630E;ENSP00000428010:D245E	ENSP00000286355:D630E	D	-	3	2	ADCY8	131985221	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	2.530000	0.45641	0.507000	0.28148	0.482000	0.46254	GAT		0.502	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			10	73	0	0	0	0.335167	0	10	73				
FLG2	388698	broad.mit.edu	37	1	152329230	152329230	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr1:152329230G>C	ENST00000388718.5	-	3	1104	c.1032C>G	c.(1030-1032)aaC>aaG	p.N344K	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	344	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTACAGGGGTTAGACTCAG	0.502																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(1030-1032)aaC>aaG		filaggrin family member 2							143.0	135.0	137.0					1																	152329230		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152329230G>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.1032C>G	1.37:g.152329230G>C	ENSP00000373370:p.Asn344Lys					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.N344K	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1104	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		344			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.1032C>G	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	0.064	-1.217554	0.01542	.	.	ENSG00000143520	ENST00000388718	T	0.16457	2.34	4.26	-5.98	0.02220	.	.	.	.	.	T	0.01454	0.0047	N	0.22421	0.69	0.09310	N	1	B	0.20671	0.047	B	0.17098	0.017	T	0.42916	-0.9423	9	0.06494	T	0.89	-1.0966	0.5999	0.00743	0.3296:0.1147:0.1896:0.3661	.	344	Q5D862	FILA2_HUMAN	K	344	ENSP00000373370:N344K	ENSP00000373370:N344K	N	-	3	2	FLG2	150595854	.	.	0.005000	0.12908	0.066000	0.16364	.	.	-1.315000	0.02297	0.650000	0.86243	AAC		0.502	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		10	139	0	0	0	0.387290	0	10	139				
ZEB1	6935	broad.mit.edu	37	10	31810040	31810040	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr10:31810040T>A	ENST00000320985.10	+	7	1887	c.1777T>A	c.(1777-1779)Ttg>Atg	p.L593M	ZEB1_ENST00000361642.5_Missense_Mutation_p.L594M|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.L526M|ZEB1_ENST00000560721.2_Missense_Mutation_p.L573M|ZEB1_ENST00000446923.2_Missense_Mutation_p.L577M			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	593					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAGAACCTCTTGTCTCTCCT	0.438																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77						c.(1729-1731)Ttg>Atg		zinc finger E-box binding homeobox 1							81.0	83.0	82.0					10																	31810040		2203	4300	6503	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31810040T>A	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.1777T>A	10.37:g.31810040T>A	ENSP00000319248:p.Leu593Met					ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Missense_Mutation_p.L594M|ZEB1_ENST00000320985.10_Missense_Mutation_p.L593M|ZEB1_ENST00000542815.3_Missense_Mutation_p.L526M|ZEB1_ENST00000560721.2_Missense_Mutation_p.L573M	p.L577M	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN			7	2120	+		Prostate(175;0.0156)	593					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.1729T>A	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	T	0.604	-0.827643	0.02734	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000543514;ENST00000446923	T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9	5.34	-1.66	0.08265	Homeodomain-related (1);Homeobox (2);	0.398232	0.18121	N	0.151028	T	0.77377	0.4121	L	0.53671	1.685	0.42150	D	0.991554	P;D;D;B;B;P;B;B	0.71674	0.723;0.996;0.998;0.332;0.373;0.883;0.332;0.332	B;D;D;B;B;P;B;B	0.68039	0.391;0.913;0.955;0.173;0.18;0.745;0.173;0.173	T	0.73694	-0.3902	10	0.14252	T	0.57	-5.5274	12.5131	0.56017	0.0:0.4493:0.0:0.5507	.	526;593;577;593;593;573;594;593	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	M	375;593;594;593;526;593;573;452;484;577	ENSP00000444282:L375M;ENSP00000354487:L594M;ENSP00000444891:L526M;ENSP00000319248:L593M;ENSP00000391612:L577M	ENSP00000319248:L593M	L	+	1	2	ZEB1	31850046	0.749000	0.28305	0.947000	0.38551	0.374000	0.29953	0.478000	0.22212	-0.124000	0.11724	0.533000	0.62120	TTG		0.438	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		8	84	0	0	0	0.307466	0	8	84				
RNF31	55072	broad.mit.edu	37	14	24618082	24618082	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr14:24618082C>A	ENST00000324103.6	+	5	948	c.628C>A	c.(628-630)Cca>Aca	p.P210T	RNF31_ENST00000382687.3_Missense_Mutation_p.P59T|RP11-468E2.4_ENST00000558468.1_5'Flank|PSME2_ENST00000471700.2_5'Flank|RNF31_ENST00000557878.1_3'UTR|PSME2_ENST00000216802.5_5'Flank|PSME2_ENST00000560410.1_5'Flank|RNF31_ENST00000559275.1_Missense_Mutation_p.P59T	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	210	Polyubiquitin-binding.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		ACCCTCTGTCCCAGGTATTAT	0.458																																						ENST00000324103.6																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39						c.(628-630)Cca>Aca		ring finger protein 31							168.0	167.0	168.0					14																	24618082		1879	4112	5991	SO:0001583	missense	55072				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:24618082C>A	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.628C>A	14.37:g.24618082C>A	ENSP00000315112:p.Pro210Thr					RNF31_ENST00000557878.1_3'UTR|RNF31_ENST00000382687.3_Missense_Mutation_p.P59T|RNF31_ENST00000559275.1_Missense_Mutation_p.P59T	p.P210T	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN		GBM - Glioblastoma multiforme(265;0.00861)	5	948	+			210			Polyubiquitin-binding.		A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	37	c.628C>A	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.812278	0.32053	.	.	ENSG00000092098	ENST00000324103;ENST00000382687	T;T	0.44482	0.93;0.92	4.5	1.6	0.23607	.	1.479250	0.03502	N	0.218171	T	0.20780	0.0500	N	0.04508	-0.205	0.21802	N	0.999532	B;B;B	0.16166	0.016;0.002;0.001	B;B;B	0.14578	0.011;0.001;0.004	T	0.14504	-1.0470	10	0.25751	T	0.34	-12.763	2.9473	0.05850	0.1854:0.5356:0.1794:0.0996	.	25;210;59	B3KV71;Q96EP0;Q96EP0-3	.;RNF31_HUMAN;.	T	210;59	ENSP00000315112:P210T;ENSP00000372134:P59T	ENSP00000315112:P210T	P	+	1	0	RNF31	23687922	0.001000	0.12720	0.948000	0.38648	0.981000	0.71138	0.100000	0.15231	0.151000	0.19162	0.561000	0.74099	CCA		0.458	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		16	171	1	0	0.000566183	0.520397	0.000610882	16	171				
GABRE	2564	broad.mit.edu	37	X	151124292	151124292	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chrX:151124292C>G	ENST00000370328.3	-	7	878	c.825G>C	c.(823-825)agG>agC	p.R275S	GABRE_ENST00000370325.1_Missense_Mutation_p.R275S|AF274855.1_ENST00000582865.1_RNA|GABRE_ENST00000483564.1_5'UTR|MIR224_ENST00000384889.1_RNA	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	275					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				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)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|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)	AGCCAAACCGCCTGCTCACAT	0.488																																						ENST00000370325.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.(823-825)agG>agC		gamma-aminobutyric acid (GABA) A receptor, epsilon							171.0	133.0	146.0					X																	151124292		2203	4300	6503	SO:0001583	missense	2564				gamma-aminobutyric acid signaling pathway	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.chrX:151124292C>G	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.825G>C	X.37:g.151124292C>G	ENSP00000359353:p.Arg275Ser					GABRE_ENST00000370328.3_Missense_Mutation_p.R275S|GABRE_ENST00000483564.1_5'UTR	p.R275S			P78334	GBRE_HUMAN			7	878	-	Acute lymphoblastic leukemia(192;6.56e-05)		275					E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	c.825G>C	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917561	0.52546	.	.	ENSG00000102287	ENST00000370328;ENST00000370325	D;D	0.93133	-3.17;-3.17	5.8	3.03	0.35002	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.64402	D	0.000003	D	0.96525	0.8866	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94079	0.7342	10	0.87932	D	0	.	4.7808	0.13201	0.0:0.584:0.1542:0.2619	.	275	P78334	GBRE_HUMAN	S	275	ENSP00000359353:R275S;ENSP00000359350:R275S	ENSP00000359350:R275S	R	-	3	2	GABRE	150874948	0.138000	0.22547	0.083000	0.20561	0.858000	0.48976	0.628000	0.24522	0.205000	0.20568	-0.344000	0.07964	AGG		0.488	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		13	50	0	0	0	0.479597	0	13	50				
SAP130	79595	broad.mit.edu	37	2	128703100	128703100	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr2:128703100T>C	ENST00000259235.3	-	18	2933	c.2804A>G	c.(2803-2805)aAt>aGt	p.N935S	SAP130_ENST00000259234.6_Missense_Mutation_p.N943S|SAP130_ENST00000357702.5_Missense_Mutation_p.N970S	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	935	Interactions with SIN3A and HDAC1.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TCCTTTCTGATTAGCTATTTC	0.408																																						ENST00000357702.5																			0				NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45						c.(2908-2910)aAt>aGt		Sin3A-associated protein, 130kDa							132.0	121.0	125.0					2																	128703100		2203	4300	6503	SO:0001583	missense	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128703100T>C	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.2804A>G	2.37:g.128703100T>C	ENSP00000259235:p.Asn935Ser					SAP130_ENST00000259235.3_Missense_Mutation_p.N935S|SAP130_ENST00000259234.6_Missense_Mutation_p.N943S	p.N970S	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	19	3040	-	Colorectal(110;0.1)		935			Interactions with SIN3A and HDAC1.		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	ENST00000259235.3	37	c.2909A>G	CCDS2153.1	.	.	.	.	.	.	.	.	.	.	.	15.33	2.802370	0.50315	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	6.07	4.92	0.64577	.	0.082890	0.85682	N	0.000000	T	0.47414	0.1444	L	0.34521	1.04	0.58432	D	0.999995	B;B;B;B	0.19583	0.037;0.037;0.037;0.037	B;B;B;B	0.18561	0.015;0.015;0.022;0.022	T	0.42949	-0.9421	9	0.87932	D	0	-18.4316	12.1622	0.54110	0.0:0.0664:0.0:0.9336	.	970;935;500;572	B7ZLM3;Q9H0E3;Q9H0E3-2;B3KRT9	.;SP130_HUMAN;.;.	S	970;935;943	.	ENSP00000259234:N943S	N	-	2	0	SAP130	128419570	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	4.685000	0.61693	1.117000	0.41842	0.533000	0.62120	AAT		0.408	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		4	68	0	0	0	0.184627	0	4	68				
SEC14L3	266629	broad.mit.edu	37	22	30866203	30866203	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr22:30866203C>T	ENST00000215812.4	-	3	260	c.170G>A	c.(169-171)cGc>cAc	p.R57H	SEC14L3_ENST00000403066.1_5'UTR|SEC14L3_ENST00000415957.2_5'UTR|SEC14L3_ENST00000539629.1_5'UTR|SEC14L3_ENST00000401751.1_5'UTR|SEC14L3_ENST00000540910.1_5'UTR|SEC14L3_ENST00000402286.1_5'UTR	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	57						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	TCTCACCTTGCGGAGCAAAGC	0.527																																					Esophageal Squamous(108;290 1516 3584 23771 37333)	ENST00000215812.4																			0				NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19						c.(169-171)cGc>cAc		SEC14-like 3 (S. cerevisiae)	Vitamin E(DB00163)						52.0	55.0	54.0					22																	30866203		2203	4300	6503	SO:0001583	missense	266629					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30866203C>T	AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.170G>A	22.37:g.30866203C>T	ENSP00000215812:p.Arg57His					SEC14L3_ENST00000540910.1_5'UTR|SEC14L3_ENST00000539629.1_5'UTR|SEC14L3_ENST00000402286.1_5'UTR|SEC14L3_ENST00000415957.2_5'UTR|SEC14L3_ENST00000403066.1_5'UTR|SEC14L3_ENST00000401751.1_5'UTR	p.R57H	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN			3	260	-			57					E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	ENST00000215812.4	37	c.170G>A	CCDS13877.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439235	0.83885	.	.	ENSG00000100012	ENST00000215812	D	0.86030	-2.06	5.31	3.2	0.36748	Phosphatidylinositol transfer protein-like, N-terminal (1);Cellular retinaldehyde-binding/triple function, N-terminal (1);	0.120057	0.64402	D	0.000018	D	0.92368	0.7578	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.92234	0.5795	10	0.87932	D	0	-8.0827	11.0954	0.48141	0.0:0.8452:0.0:0.1548	.	57	Q9UDX4	S14L3_HUMAN	H	57	ENSP00000215812:R57H	ENSP00000215812:R57H	R	-	2	0	SEC14L3	29196203	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.303000	0.59098	0.619000	0.30197	-0.136000	0.14681	CGC		0.527	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321950.4	NM_174975		3	33	0	0	0	0.150653	0	3	33				
ZC3H7B	23264	broad.mit.edu	37	22	41735080	41735080	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr22:41735080T>G	ENST00000352645.4	+	9	958	c.701T>G	c.(700-702)cTg>cGg	p.L234R	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.L234R	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	250					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CCTCACGTTCTGGACCTGCTG	0.667																																						ENST00000352645.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(700-702)cTg>cGg		zinc finger CCCH-type containing 7B							108.0	99.0	102.0					22																	41735080		2203	4300	6503	SO:0001583	missense	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41735080T>G		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.701T>G	22.37:g.41735080T>G	ENSP00000345793:p.Leu234Arg					ZC3H7B_ENST00000351589.4_Missense_Mutation_p.L234R	p.L234R	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN			9	958	+			250					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Missense_Mutation	SNP	ENST00000352645.4	37	c.701T>G	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	T	12.26	1.885471	0.33255	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.12879	2.64;2.64	4.21	3.11	0.35812	.	0.385071	0.24544	N	0.037601	T	0.10380	0.0254	L	0.50333	1.59	0.32701	N	0.512889	B	0.29037	0.231	B	0.24394	0.053	T	0.08827	-1.0703	10	0.49607	T	0.09	-13.9733	2.9525	0.05866	0.3618:0.1216:0.0:0.5166	.	234	Q9UGR2-2	.	R	234	ENSP00000345793:L234R;ENSP00000263243:L234R	ENSP00000263243:L234R	L	+	2	0	ZC3H7B	40065026	0.941000	0.31946	1.000000	0.80357	0.974000	0.67602	1.391000	0.34475	1.760000	0.52011	0.459000	0.35465	CTG		0.667	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		64	133	0	0	0	0.870114	0	64	133				
PCDHA5	56143	broad.mit.edu	37	5	140202764	140202764	+	Silent	SNP	G	G	A	rs17844294		TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr5:140202764G>A	ENST00000529859.1	+	1	1404	c.1404G>A	c.(1402-1404)ccG>ccA	p.P468P	PCDHA5_ENST00000378126.3_Silent_p.P468P|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.P468P	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	468	Cadherin 5. {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)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACAACCCGCCAGGCTGCC	0.677													.|||	1	0.000199681	0.0008	0.0	5008	,	,		17929	0.0		0.0	False		,,,				2504	0.0					ENST00000529859.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(1402-1404)ccG>ccA									69.0	73.0	72.0					5																	140202764		2202	4299	6501	SO:0001819	synonymous_variant	0							g.chr5:140202764G>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1404G>A	5.37:g.140202764G>A						PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.P468P|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.P468P|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron	p.P468P	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1404	+								O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	c.1404G>A	CCDS54917.1																																																																																				0.677	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		26	125	0	0	0	0.667858	0	26	125				
PRAMEF1	65121	broad.mit.edu	37	1	12855916	12855916	+	Missense_Mutation	SNP	G	G	A	rs534609491		TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr1:12855916G>A	ENST00000332296.7	+	4	1299	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.R154H	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	399					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GACCTGCTGCGCCACACCAGT	0.557													.|||	1	0.000199681	0.0	0.0	5008	,	,		19644	0.0		0.0	False		,,,				2504	0.001					ENST00000332296.7																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1195-1197)cGc>cAc		PRAME family member 1							49.0	46.0	47.0					1																	12855916		2201	4294	6495	SO:0001583	missense	65121							g.chr1:12855916G>A	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.1196G>A	1.37:g.12855916G>A	ENSP00000332134:p.Arg399His					PRAMEF1_ENST00000400814.3_Missense_Mutation_p.R154H	p.R399H	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1299	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	399					Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	c.1196G>A	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	2.972	-0.212215	0.06140	.	.	ENSG00000116721	ENST00000332296;ENST00000400814	T;T	0.49432	0.78;0.78	1.56	-0.674	0.11369	.	1.571450	0.04233	N	0.335492	T	0.30008	0.0751	L	0.27053	0.805	0.09310	N	1	B	0.18166	0.026	B	0.11329	0.006	T	0.09357	-1.0678	10	0.12430	T	0.62	.	4.1186	0.10094	0.4747:0.0:0.5253:0.0	.	399	O95521	PRAM1_HUMAN	H	399;154	ENSP00000332134:R399H;ENSP00000383616:R154H	ENSP00000332134:R399H	R	+	2	0	PRAMEF1	12778503	0.000000	0.05858	0.003000	0.11579	0.017000	0.09413	-2.135000	0.01306	-0.196000	0.10366	0.205000	0.17691	CGC		0.557	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		7	147	0	0	0	0.307466	0	7	147				
MUC4	4585	broad.mit.edu	37	3	195505813	195505813	+	Missense_Mutation	SNP	T	T	C	rs562396488	byFrequency	TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr3:195505813T>C	ENST00000463781.3	-	2	13097	c.12638A>G	c.(12637-12639)gAc>gGc	p.D4213G	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.D4213G|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.D4213G(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGAGGAAGTGTCGGTGACAGG	0.592													.|||	73	0.0145767	0.0151	0.0144	5008	,	,		14193	0.0159		0.0189	False		,,,				2504	0.0082					ENST00000463781.3																			2	Substitution - Missense(2)	p.D4213G(2)	endometrium(2)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12637-12639)gAc>gGc		mucin 4, cell surface associated							26.0	23.0	24.0					3																	195505813		690	1577	2267	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505813T>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12638A>G	3.37:g.195505813T>C	ENSP00000417498:p.Asp4213Gly					MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.D4213G|MUC4_ENST00000349607.4_Intron	p.D4213G	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13097	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	970					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12638A>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	N	0.010	-1.784645	0.00628	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32753	1.44;1.46	.	.	.	.	.	.	.	.	T	0.12689	0.0308	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.24190	-1.0167	7	.	.	.	.	3.8908	0.09117	0.0:0.332:0.0:0.668	.	4085	E7ESK3	.	G	4213	ENSP00000417498:D4213G;ENSP00000420243:D4213G	.	D	-	2	0	MUC4	196990592	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-1.874000	0.01133	-1.876000	0.00548	GAC		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		2	5	0	0	0	0.115264	0	2	5				
DIP2C	22982	broad.mit.edu	37	10	323440	323440	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr10:323440A>G	ENST00000280886.6	-	37	4583	c.4496T>C	c.(4495-4497)gTt>gCt	p.V1499A	AL603831.1_ENST00000579524.1_RNA	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1499						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CACCAAGGGAACCAGGTCCAA	0.542																																						ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(4495-4497)gTt>gCt		DIP2 disco-interacting protein 2 homolog C (Drosophila)							131.0	112.0	118.0					10																	323440		2203	4300	6503	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:323440A>G	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.4496T>C	10.37:g.323440A>G	ENSP00000280886:p.Val1499Ala						p.V1499A	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	37	4583	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	1499					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.4496T>C	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	A	19.18	3.777100	0.70107	.	.	ENSG00000151240	ENST00000280886;ENST00000535541	T	0.10668	2.85	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.14141	0.0342	L	0.43923	1.385	0.80722	D	1	B	0.33299	0.407	B	0.36378	0.223	T	0.01688	-1.1295	10	0.54805	T	0.06	-31.5245	16.5763	0.84648	1.0:0.0:0.0:0.0	.	1499	Q9Y2E4	DIP2C_HUMAN	A	1499;424	ENSP00000280886:V1499A	ENSP00000280886:V1499A	V	-	2	0	DIP2C	313440	1.000000	0.71417	0.984000	0.44739	0.578000	0.36192	9.339000	0.96797	2.317000	0.78254	0.459000	0.35465	GTT		0.542	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		5	40	0	0	0	0.217242	0	5	40				
PDE10A	10846	broad.mit.edu	37	6	165752808	165752808	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr6:165752808T>C	ENST00000366882.1	-	21	2261	c.2107A>G	c.(2107-2109)Atg>Gtg	p.M703V	PDE10A_ENST00000354448.4_Missense_Mutation_p.M703V|PDE10A_ENST00000539869.2_Missense_Mutation_p.M713V			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	703					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	CTGTCCATCATAGGAATAGGC	0.353																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1																			0				breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(2107-2109)Atg>Gtg		phosphodiesterase 10A	Dipyridamole(DB00975)						143.0	145.0	144.0					6																	165752808		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165752808T>C	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.2107A>G	6.37:g.165752808T>C	ENSP00000355847:p.Met703Val					PDE10A_ENST00000539869.2_Missense_Mutation_p.M713V|PDE10A_ENST00000354448.4_Missense_Mutation_p.M703V	p.M703V			Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	21	2261	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	703					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.2107A>G		.	.	.	.	.	.	.	.	.	.	T	21.2	4.115194	0.77210	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.78003	-1.14;-1.14	5.78	5.78	0.91487	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	T	0.82231	0.4992	M	0.65498	2.005	0.51233	D	0.999917	P;B	0.47409	0.895;0.159	P;B	0.57720	0.826;0.067	D	0.84792	0.0779	10	0.87932	D	0	.	16.1138	0.81283	0.0:0.0:0.0:1.0	.	713;703	Q9ULW9;Q9Y233	.;PDE10_HUMAN	V	703;731;713;703;702	ENSP00000355847:M703V;ENSP00000346435:M703V	ENSP00000341187:M713V	M	-	1	0	PDE10A	165672798	1.000000	0.71417	0.181000	0.23098	0.835000	0.47333	7.428000	0.80296	2.220000	0.72140	0.533000	0.62120	ATG		0.353	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			4	126	0	0	0	0.150653	0	4	126				
STARD8	9754	broad.mit.edu	37	X	67937307	67937307	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chrX:67937307G>A	ENST00000252336.6	+	5	683	c.311G>A	c.(310-312)cGg>cAg	p.R104Q	STARD8_ENST00000374599.3_Missense_Mutation_p.R184Q|STARD8_ENST00000374597.3_Missense_Mutation_p.R104Q	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	104					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						TCGAGTGACCGGCCCCTCCTC	0.637																																						ENST00000252336.6																			0				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						c.(310-312)cGg>cAg		StAR-related lipid transfer (START) domain containing 8							46.0	42.0	44.0					X																	67937307		2203	4299	6502	SO:0001583	missense	9754				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	g.chrX:67937307G>A	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.311G>A	X.37:g.67937307G>A	ENSP00000252336:p.Arg104Gln					STARD8_ENST00000374599.3_Missense_Mutation_p.R184Q|STARD8_ENST00000374597.3_Missense_Mutation_p.R104Q	p.R104Q	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN			5	683	+			104					A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	37	c.311G>A	CCDS14390.1	.	.	.	.	.	.	.	.	.	.	g	0.010	-1.783780	0.00628	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.08008	3.14;3.15;3.14	4.06	-6.64	0.01801	.	1.910640	0.02498	N	0.090183	T	0.01627	0.0052	N	0.00347	-1.61	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.42531	-0.9446	10	0.19590	T	0.45	.	1.8383	0.03144	0.4914:0.1289:0.2501:0.1296	.	184;104	Q92502-2;Q92502	.;STAR8_HUMAN	Q	104;184;104	ENSP00000252336:R104Q;ENSP00000363727:R184Q;ENSP00000363725:R104Q	ENSP00000252336:R104Q	R	+	2	0	STARD8	67854032	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.134000	0.03228	-0.763000	0.04658	-0.386000	0.06593	CGG		0.637	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		8	26	0	0	0	0.361761	0	8	26				
SLC4A11	83959	broad.mit.edu	37	20	3214874	3214874	+	Silent	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr20:3214874G>A	ENST00000380056.3	-	4	473	c.426C>T	c.(424-426)aaC>aaT	p.N142N	SLC4A11_ENST00000539553.2_Silent_p.N126N|SLC4A11_ENST00000380059.3_Silent_p.N169N	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	142					bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)	p.N142N(1)|p.N169N(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						TGGCCGTCTCGTTCAGGACGA	0.597																																					NSCLC(190;922 2139 10266 10292 38692)	ENST00000380059.3																			2	Substitution - coding silent(2)	p.N142N(1)|p.N169N(1)	breast(2)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						c.(505-507)aaC>aaT		solute carrier family 4, sodium borate transporter, member 11							126.0	115.0	118.0					20																	3214874		2203	4300	6503	SO:0001819	synonymous_variant	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3214874G>A	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.426C>T	20.37:g.3214874G>A						SLC4A11_ENST00000539553.1_Silent_p.N126N|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Silent_p.N142N	p.N169N	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN			5	608	-			142					B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Silent	SNP	ENST00000380056.3	37	c.507C>T	CCDS13052.1																																																																																				0.597	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			17	97	0	0	0	0.575678	0	17	97				
GABRD	2563	broad.mit.edu	37	1	1957026	1957026	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr1:1957026G>A	ENST00000378585.4	+	4	402	c.319G>A	c.(319-321)Gag>Aag	p.E107K		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	107					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	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)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|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)	CCACACCAACGAGACCCTGGG	0.637																																						ENST00000378585.4																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(319-321)Gag>Aag		gamma-aminobutyric acid (GABA) A receptor, delta							103.0	101.0	102.0					1																	1957026		2203	4300	6503	SO:0001583	missense	2563					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.chr1:1957026G>A	BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4084	protein-coding gene	gene with protein product	"""GABA(A) receptor, delta"""	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.319G>A	1.37:g.1957026G>A	ENSP00000367848:p.Glu107Lys						p.E107K	NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	4	402	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	107					Q8N4N9	Missense_Mutation	SNP	ENST00000378585.4	37	c.319G>A	CCDS36.1	.	.	.	.	.	.	.	.	.	.	G	9.380	1.072755	0.20147	.	.	ENSG00000187730	ENST00000378585	T	0.77620	-1.11	4.4	4.4	0.53042	Neurotransmitter-gated ion-channel ligand-binding (3);	0.057624	0.64402	D	0.000001	T	0.48484	0.1502	N	0.02213	-0.635	0.45129	D	0.998145	B	0.14438	0.01	B	0.12837	0.008	T	0.50499	-0.8821	10	0.07030	T	0.85	-8.7375	10.1819	0.42972	0.0918:0.0:0.9082:0.0	.	107	O14764	GBRD_HUMAN	K	107	ENSP00000367848:E107K	ENSP00000367848:E107K	E	+	1	0	GABRD	1946886	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	3.954000	0.56708	2.444000	0.82710	0.561000	0.74099	GAG		0.637	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815		9	87	0	0	0	0.335167	0	9	87				
EXOC1	55763	broad.mit.edu	37	4	56744213	56744213	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr4:56744213A>G	ENST00000381295.2	+	9	1553	c.1205A>G	c.(1204-1206)aAa>aGa	p.K402R	EXOC1_ENST00000349598.6_Missense_Mutation_p.K402R|EXOC1_ENST00000346134.7_Missense_Mutation_p.K402R	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	402					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					GATTATGGAAAATATGAAGGA	0.383																																						ENST00000381295.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35						c.(1204-1206)aAa>aGa		exocyst complex component 1							140.0	135.0	137.0					4																	56744213		2203	4300	6503	SO:0001583	missense	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56744213A>G	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.1205A>G	4.37:g.56744213A>G	ENSP00000370695:p.Lys402Arg					EXOC1_ENST00000349598.6_Missense_Mutation_p.K402R|EXOC1_ENST00000346134.7_Missense_Mutation_p.K402R	p.K402R	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN			9	1553	+	Glioma(25;0.08)|all_neural(26;0.101)		402					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	37	c.1205A>G	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	A	9.579	1.122956	0.20959	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.65	4.44	0.53790	.	0.137085	0.64402	D	0.000004	T	0.28101	0.0693	N	0.10874	0.06	0.39160	D	0.962387	B;B	0.06786	0.001;0.001	B;B	0.10450	0.001;0.005	T	0.08827	-1.0703	9	0.15499	T	0.54	.	6.4834	0.22075	0.7887:0.0:0.0721:0.1392	.	402;402	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	R	402	.	ENSP00000326514:K402R	K	+	2	0	EXOC1	56438970	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.869000	0.63028	0.941000	0.37499	0.455000	0.32223	AAA		0.383	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		25	66	0	0	0	0.693898	0	25	66				
FLT1	2321	broad.mit.edu	37	13	28877423	28877423	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr13:28877423C>T	ENST00000282397.4	-	30	4149	c.3898G>A	c.(3898-3900)Gtc>Atc	p.V1300I	FLT1_ENST00000543394.1_Missense_Mutation_p.V323I|FLT1_ENST00000540678.1_Missense_Mutation_p.V518I	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1300					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)	CCTTCGCTGACGTGCCCACAG	0.547																																						ENST00000282397.4																			0				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						c.(3898-3900)Gtc>Atc		fms-related tyrosine kinase 1	Sunitinib(DB01268)						88.0	76.0	80.0					13																	28877423		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.chr13:28877423C>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.3898G>A	13.37:g.28877423C>T	ENSP00000282397:p.Val1300Ile					FLT1_ENST00000540678.1_Missense_Mutation_p.V518I|FLT1_ENST00000543394.1_Missense_Mutation_p.V323I	p.V1300I	NM_002019.4	NP_002010.2	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)	30	4149	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	1300					A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.3898G>A	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	0.246	-1.009737	0.02095	.	.	ENSG00000102755	ENST00000282397;ENST00000543394;ENST00000540678	T;T;T	0.77358	-0.85;-1.07;-1.09	5.06	-10.1	0.00402	.	1.428260	0.03970	N	0.291565	T	0.49012	0.1532	N	0.04636	-0.2	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.46762	-0.9168	10	0.21540	T	0.41	.	6.1024	0.20055	0.1526:0.3873:0.3684:0.0916	.	1300	P17948	VGFR1_HUMAN	I	1300;323;518	ENSP00000282397:V1300I;ENSP00000437841:V323I;ENSP00000443311:V518I	ENSP00000282397:V1300I	V	-	1	0	FLT1	27775423	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-2.441000	0.01015	-3.734000	0.00114	-1.486000	0.00981	GTC		0.547	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			5	73	0	0	0	0.184627	0	5	73				
KLHL7	55975	broad.mit.edu	37	7	23207656	23207656	+	Splice_Site	SNP	C	C	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr7:23207656C>G	ENST00000339077.5	+	9	1622	c.1379C>G	c.(1378-1380)aCa>aGa	p.T460R	KLHL7_ENST00000409689.1_Splice_Site_p.T412R|KLHL7_ENST00000545443.1_Splice_Site_p.T438R|KLHL7_ENST00000542558.1_Splice_Site_p.T235R|KLHL7_ENST00000539124.1_Splice_Site_p.T384R|KLHL7_ENST00000322231.7_Splice_Site_p.T438R	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	460					protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCCACAGAAACGTATGTATCT	0.368																																						ENST00000322231.7																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.e10+1		kelch-like family member 7							96.0	95.0	95.0					7																	23207656		2203	4300	6503	SO:0001630	splice_region_variant	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23207656C>G		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.1379+1C>G	7.37:g.23207656C>G						KLHL7_ENST00000542558.1_Splice_Site_p.T235_splice|KLHL7_ENST00000409689.1_Splice_Site_p.T412_splice|KLHL7_ENST00000339077.4_Splice_Site_p.T460_splice|KLHL7_ENST00000545443.1_Splice_Site_p.T438_splice|KLHL7_ENST00000539124.1_Splice_Site_p.T384_splice	p.T438_splice			Q8IXQ5	KLHL7_HUMAN			10	1803	+			460					A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Splice_Site	SNP	ENST00000339077.5	37	c.1313_splice	CCDS34609.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.003|7.003	0.555313|0.555313	0.13436|0.13436	.|.	.|.	ENSG00000122550|ENSG00000122550	ENST00000536369|ENST00000538858;ENST00000322231;ENST00000339077;ENST00000539124;ENST00000542558;ENST00000409689;ENST00000545443	.|T;T;T;T;T;T	.|0.79653	.|-1.29;-1.29;-1.29;-1.29;-1.29;-1.29	5.69|5.69	5.69|5.69	0.88448|0.88448	.|Kelch-type beta propeller (1);	.|0.160092	.|0.56097	.|D	.|0.000038	T|T	0.72187|0.72187	0.3429|0.3429	N|N	0.21583|0.21583	0.68|0.68	0.58432|0.58432	D|D	0.999995|0.999995	.|B;B;B	.|0.19200	.|0.034;0.012;0.01	.|B;B;B	.|0.16289	.|0.015;0.007;0.004	T|T	0.64871|0.64871	-0.6305|-0.6305	6|10	0.17832|0.31617	T|T	0.49|0.26	.|.	19.813|19.813	0.96554|0.96554	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|235;460;438	.|B7Z3P9;Q8IXQ5;Q8IXQ5-2	.|.;KLHL7_HUMAN;.	D|R	380|301;438;460;384;235;412;438	.|ENSP00000322958:T438R;ENSP00000343273:T460R;ENSP00000441136:T384R;ENSP00000442367:T235R;ENSP00000386263:T412R;ENSP00000442366:T438R	ENSP00000442363:H380D|ENSP00000322958:T438R	H|T	+|+	1|2	0|0	KLHL7|KLHL7	23174181|23174181	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.871000|0.871000	0.50021|0.50021	5.755000|5.755000	0.68750|0.68750	2.683000|2.683000	0.91414|0.91414	0.591000|0.591000	0.81541|0.81541	CAT|ACA		0.368	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846	Missense_Mutation	4	42	0	0	0	0.217242	0	4	42				
NOTCH1	4851	broad.mit.edu	37	9	139401765	139401765	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr9:139401765C>T	ENST00000277541.6	-	22	3710	c.3635G>A	c.(3634-3636)gGc>gAc	p.G1212D		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1212	EGF-like 31; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACCCTGAGTGCCCCGTGGGCA	0.687			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(3634-3636)gGc>gAc		notch 1							35.0	39.0	37.0					9																	139401765		1992	4163	6155	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139401765C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.3635G>A	9.37:g.139401765C>T	ENSP00000277541:p.Gly1212Asp	HNSCC(8;0.001)					p.G1212D	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	22	3710	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1212			EGF-like 31; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.3635G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.686807	0.88639	.	.	ENSG00000148400	ENST00000277541	D	0.98192	-4.78	5.13	5.13	0.70059	EGF (1);EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99162	0.9710	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99406	1.0929	10	0.72032	D	0.01	.	17.568	0.87926	0.0:1.0:0.0:0.0	.	1212	P46531	NOTC1_HUMAN	D	1212	ENSP00000277541:G1212D	ENSP00000277541:G1212D	G	-	2	0	NOTCH1	138521586	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	7.395000	0.79876	2.382000	0.81193	0.655000	0.94253	GGC		0.687	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		3	43	0	0	0	0.115264	0	3	43				
SCN1A	6323	broad.mit.edu	37	2	166900370	166900370	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr2:166900370G>A	ENST00000303395.4	-	11	1851	c.1852C>T	c.(1852-1854)Cgc>Tgc	p.R618C	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.R618C|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.R618C|SCN1A_ENST00000409050.1_Missense_Mutation_p.R618C			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	618					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTGCTGTTGCGTCTCTCTCCG	0.537																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(1852-1854)Cgc>Tgc		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						182.0	147.0	159.0					2																	166900370		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166900370G>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1852C>T	2.37:g.166900370G>A	ENSP00000303540:p.Arg618Cys					AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.R618C|SCN1A_ENST00000375405.3_Missense_Mutation_p.R618C|SCN1A_ENST00000303395.4_Missense_Mutation_p.R618C|AC010127.3_ENST00000595268.1_RNA	p.R618C	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			11	1869	-			618					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.1852C>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635964	0.67130	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24	5.23	5.23	0.72850	Domain of unknown function DUF3451 (1);	0.000000	0.64402	D	0.000003	D	0.97105	0.9054	M	0.91300	3.195	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	P;P;D	0.73380	0.809;0.83;0.98	D	0.97750	1.0214	10	0.87932	D	0	.	13.7383	0.62831	0.0:0.0:0.8461:0.1539	.	618;618;618	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	C	618	ENSP00000407030:R618C;ENSP00000303540:R618C;ENSP00000364554:R618C;ENSP00000386312:R618C	ENSP00000303540:R618C	R	-	1	0	SCN1A	166608616	1.000000	0.71417	0.998000	0.56505	0.892000	0.51952	6.557000	0.73937	2.444000	0.82710	0.561000	0.74099	CGC		0.537	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		24	59	0	0	0	0.624587	0	24	59				
KBTBD12	166348	broad.mit.edu	37	3	127642852	127642852	+	Silent	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr3:127642852C>T	ENST00000405109.1	+	2	1415	c.948C>T	c.(946-948)taC>taT	p.Y316Y	KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000405256.1_Silent_p.Y316Y			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	316								p.Y316Y(2)		endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CTCCCAAGTACGGAGAGGGTT	0.408																																						ENST00000405109.1																			2	Substitution - coding silent(2)	p.Y316Y(2)	large_intestine(2)	endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						c.(946-948)taC>taT		kelch repeat and BTB (POZ) domain containing 12							135.0	129.0	131.0					3																	127642852		1908	4108	6016	SO:0001819	synonymous_variant	166348							g.chr3:127642852C>T		CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"""BTB/POZ domain containing"""	25731	protein-coding gene	gene with protein product			"""kelch domain containing 6"""	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.948C>T	3.37:g.127642852C>T						KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000405256.1_Silent_p.Y316Y	p.Y316Y			Q3ZCT8	KBTBC_HUMAN			2	1415	+			316					B5MCC6|Q6ZRK1	Silent	SNP	ENST00000405109.1	37	c.948C>T	CCDS33848.2																																																																																				0.408	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1	NM_207335		6	74	0	0	0	0.217242	0	6	74				
OR5AU1	390445	broad.mit.edu	37	14	21624148	21624148	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr14:21624148T>C	ENST00000304418.3	-	1	74	c.37A>G	c.(37-39)Ata>Gta	p.I13V		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		ATGAGTCTTATTGAGGGCATT	0.448																																						ENST00000304418.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21						c.(37-39)Ata>Gta		olfactory receptor, family 5, subfamily AU, member 1							169.0	161.0	164.0					14																	21624148		2203	4300	6503	SO:0001583	missense	390445				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21624148T>C	AL157687	CCDS32042.1	14q11.2	2013-09-23			ENSG00000169327	ENSG00000169327		"""GPCR / Class A : Olfactory receptors"""	15362	protein-coding gene	gene with protein product							Standard	NM_001004731		Approved		uc010tlp.2	Q8NGC0	OTTHUMG00000170753	ENST00000304418.3:c.37A>G	14.37:g.21624148T>C	ENSP00000302057:p.Ile13Val						p.I13V	NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)	1	74	-	all_cancers(95;0.00238)		13					B2RP78|Q6IEU2|Q96R10	Missense_Mutation	SNP	ENST00000304418.3	37	c.37A>G	CCDS32042.1	.	.	.	.	.	.	.	.	.	.	t	0.464	-0.887655	0.02511	.	.	ENSG00000169327	ENST00000304418	T	0.00004	9.8	3.85	-1.29	0.09288	.	.	.	.	.	T	0.00039	0.0001	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12041	-1.0563	9	0.02654	T	1	.	7.231	0.26043	0.0:0.4443:0.0:0.5557	.	13	Q8NGC0	O5AU1_HUMAN	V	13	ENSP00000302057:I13V	ENSP00000302057:I13V	I	-	1	0	OR5AU1	20693988	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	-0.551000	0.06027	-0.142000	0.11354	-1.302000	0.01329	ATA		0.448	OR5AU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410213.1			12	148	0	0	0	0.387290	0	12	148				
RBP3	5949	broad.mit.edu	37	10	48389905	48389905	+	Missense_Mutation	SNP	C	C	T	rs368898051		TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr10:48389905C>T	ENST00000224600.4	-	1	1086	c.973G>A	c.(973-975)Gcc>Acc	p.A325T	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	325	4 X approximate tandem repeats.		A -> T. {ECO:0000269|PubMed:19074801}.		lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCTGGAAGGGCGCTGCGCAGA	0.672																																						ENST00000224600.4																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(973-975)Gcc>Acc		retinol binding protein 3, interstitial	Vitamin A(DB00162)	C	THR/ALA	0,4406		0,0,2203	36.0	35.0	35.0		973	4.4	1.0	10		35	2,8598	2.2+/-6.3	0,2,4298	no	missense	RBP3	NM_002900.2	58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	325/1248	48389905	2,13004	2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48389905C>T	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.973G>A	10.37:g.48389905C>T	ENSP00000224600:p.Ala325Thr						p.A325T	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	1086	-			325			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.973G>A	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.098363	0.37048	0.0	2.33E-4	ENSG00000107618	ENST00000224600	T	0.64260	-0.09	5.29	4.36	0.52297	.	0.283735	0.35151	N	0.003407	T	0.76688	0.4022	M	0.74647	2.275	0.32854	D	0.506995	D	0.89917	1.0	D	0.78314	0.991	T	0.82739	-0.0308	10	0.51188	T	0.08	-24.0399	12.1203	0.53887	0.3117:0.6883:0.0:0.0	.	325	P10745	RET3_HUMAN	T	325	ENSP00000224600:A325T	ENSP00000224600:A325T	A	-	1	0	RBP3	48009911	0.751000	0.28327	0.977000	0.42913	0.123000	0.20343	1.388000	0.34442	1.194000	0.43101	0.561000	0.74099	GCC		0.672	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		6	43	0	0	0	0.217242	0	6	43				
OR5AS1	219447	broad.mit.edu	37	11	55798549	55798549	+	Missense_Mutation	SNP	T	T	A	rs376355115		TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr11:55798549T>A	ENST00000313555.1	+	1	655	c.655T>A	c.(655-657)Ttc>Atc	p.F219I		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TATTTCTTACTTCTGCATCCT	0.438																																						ENST00000313555.1																			0				endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48						c.(655-657)Ttc>Atc		olfactory receptor, family 5, subfamily AS, member 1							214.0	207.0	210.0					11																	55798549		2201	4296	6497	SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798549T>A	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.655T>A	11.37:g.55798549T>A	ENSP00000324111:p.Phe219Ile						p.F219I	NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN			1	655	+	Esophageal squamous(21;0.00693)		219					Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	c.655T>A	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	T	2.390	-0.340067	0.05243	.	.	ENSG00000181785	ENST00000313555	T	0.00034	8.87	5.23	-4.74	0.03249	GPCR, rhodopsin-like superfamily (1);	0.472859	0.15628	U	0.252548	T	0.00039	0.0001	N	0.00504	-1.425	0.09310	N	1	B	0.27013	0.166	B	0.25291	0.059	T	0.12734	-1.0536	10	0.12766	T	0.61	.	5.5087	0.16868	0.174:0.0743:0.5355:0.2162	.	219	Q8N127	O5AS1_HUMAN	I	219	ENSP00000324111:F219I	ENSP00000324111:F219I	F	+	1	0	OR5AS1	55555125	0.000000	0.05858	0.000000	0.03702	0.270000	0.26580	-1.307000	0.02733	-0.707000	0.05022	0.523000	0.50628	TTC		0.438	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		13	189	0	0	0	0.457914	0	13	189				
FAM83B	222584	broad.mit.edu	37	6	54805411	54805411	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr6:54805411C>A	ENST00000306858.7	+	5	1758	c.1642C>A	c.(1642-1644)Ccc>Acc	p.P548T	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	548										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AGTATTTAAACCCACTTTACC	0.423																																						ENST00000306858.7																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(1642-1644)Ccc>Acc		family with sequence similarity 83, member B							82.0	82.0	82.0					6																	54805411		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54805411C>A	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.1642C>A	6.37:g.54805411C>A	ENSP00000304078:p.Pro548Thr						p.P548T	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN			5	1758	+	Lung NSC(77;0.0178)|Renal(3;0.122)		548					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.1642C>A	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.899054	0.52227	.	.	ENSG00000168143	ENST00000306858	T	0.37752	1.18	5.66	5.66	0.87406	.	0.070560	0.64402	D	0.000011	T	0.48409	0.1498	M	0.67953	2.075	0.47153	D	0.99933	D	0.69078	0.997	P	0.61874	0.895	T	0.46735	-0.9170	10	0.66056	D	0.02	-19.7478	15.5909	0.76526	0.0:0.863:0.137:0.0	.	548	Q5T0W9	FA83B_HUMAN	T	548	ENSP00000304078:P548T	ENSP00000304078:P548T	P	+	1	0	FAM83B	54913370	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.585000	0.46111	2.832000	0.97577	0.655000	0.94253	CCC		0.423	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		5	64	1	0	1.23904e-05	0.184627	1.35468e-05	5	64				
HBE1	3046	broad.mit.edu	37	11	5289795	5289795	+	Silent	SNP	A	A	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr11:5289795A>T	ENST00000380237.1	-	5	692	c.348T>A	c.(346-348)gcT>gcA	p.A116A	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000292896.2_Silent_p.A116A|HBG2_ENST00000380259.2_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	116					blood coagulation (GO:0007596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein heterooligomerization (GO:0051291)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAAGTGAGTAGCCAGAATAA	0.488																																						ENST00000380237.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20						c.(346-348)gcT>gcA		hemoglobin, epsilon 1							182.0	164.0	170.0					11																	5289795		2201	4298	6499	SO:0001819	synonymous_variant	3046				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr11:5289795A>T	BC015537	CCDS7756.1	11p15.5	2012-10-02			ENSG00000213931	ENSG00000213931			4830	protein-coding gene	gene with protein product		142100				2649166	Standard	NM_005330		Approved	HBE	uc001mal.1	P02100	OTTHUMG00000066675	ENST00000380237.1:c.348T>A	11.37:g.5289795A>T						HBE1_ENST00000292896.2_Silent_p.A116A|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	p.A116A			P02100	HBE_HUMAN		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	5	692	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	116					Q6FH44	Silent	SNP	ENST00000380237.1	37	c.348T>A	CCDS7756.1																																																																																				0.488	HBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142973.2	NM_005330		19	135	0	0	0	0.592651	0	19	135				
ZNF443	10224	broad.mit.edu	37	19	12541355	12541355	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr19:12541355T>A	ENST00000301547.5	-	4	1828	c.1631A>T	c.(1630-1632)tAt>tTt	p.Y544F	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	544					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TAAGTTATCATAATGACCGAA	0.398																																						ENST00000301547.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						c.(1630-1632)tAt>tTt		zinc finger protein 443							121.0	115.0	117.0					19																	12541355		2203	4300	6503	SO:0001583	missense	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12541355T>A	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.1631A>T	19.37:g.12541355T>A	ENSP00000301547:p.Tyr544Phe					CTD-3105H18.16_ENST00000595562.1_Intron	p.Y544F	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN			4	1828	-			544						Missense_Mutation	SNP	ENST00000301547.5	37	c.1631A>T	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.319572	0.00018	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.07327	3.2	1.37	-2.74	0.05932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02418	0.0074	N	0.03967	-0.31	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26018	-1.0115	9	0.09338	T	0.73	.	1.555	0.02583	0.2335:0.1188:0.1421:0.5056	.	544	Q9Y2A4	ZN443_HUMAN	F	544	ENSP00000301547:Y544F	ENSP00000301547:Y544F	Y	-	2	0	ZNF443	12402355	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.943000	0.00048	-4.451000	0.00048	-3.978000	0.00014	TAT		0.398	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		9	60	0	0	0	0.361761	0	9	60				
NHS	4810	broad.mit.edu	37	X	17750102	17750102	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chrX:17750102A>G	ENST00000380060.3	+	8	4749	c.4411A>G	c.(4411-4413)Aca>Gca	p.T1471A	NHS_ENST00000398097.3_Missense_Mutation_p.T1315A	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1492					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CAGTAATGTGACAACCCCCAA	0.493													A|||	1	0.000264901	0.0	0.0	3775	,	,		13817	0.0		0.001	False		,,,				2504	0.0					ENST00000380060.3																			0				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71						c.(4411-4413)Aca>Gca		Nance-Horan syndrome (congenital cataracts and dental anomalies)							155.0	139.0	144.0					X																	17750102		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17750102A>G		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.4411A>G	X.37:g.17750102A>G	ENSP00000369400:p.Thr1471Ala					NHS_ENST00000398097.3_Missense_Mutation_p.T1315A	p.T1471A	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN			8	4749	+	Hepatocellular(33;0.183)		1471					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.4411A>G	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	A	4.735	0.136658	0.09032	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.42900	0.96;0.97	5.79	2.75	0.32379	.	0.206630	0.51477	D	0.000098	T	0.21062	0.0507	L	0.27053	0.805	0.09310	N	0.999993	B;B;B;B	0.19445	0.004;0.002;0.002;0.036	B;B;B;B	0.15484	0.006;0.004;0.004;0.013	T	0.14337	-1.0476	10	0.08599	T	0.76	-17.4979	4.2222	0.10563	0.4755:0.3247:0.1998:0.0	.	1492;1313;1315;1471	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	A	1471;1315;1313	ENSP00000369400:T1471A;ENSP00000381170:T1315A	ENSP00000369397:T1313A	T	+	1	0	NHS	17660023	0.000000	0.05858	0.532000	0.27989	0.145000	0.21501	0.191000	0.17076	1.946000	0.56461	0.486000	0.48141	ACA		0.493	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		14	82	0	0	0	0.479597	0	14	82				
FAM111A	63901	broad.mit.edu	37	11	58919681	58919681	+	Silent	SNP	A	A	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr11:58919681A>G	ENST00000528737.1	+	5	3358	c.540A>G	c.(538-540)gaA>gaG	p.E180E	FAM111A_ENST00000531147.1_Silent_p.E180E|FAM111A_ENST00000533703.1_Silent_p.E180E|FAM111A_ENST00000361723.3_Silent_p.E180E|FAM111A_ENST00000420244.1_Silent_p.E180E			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	180					defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				CATCGACTGAATGTGTCAAAT	0.408																																						ENST00000528737.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(538-540)gaA>gaG		family with sequence similarity 111, member A							113.0	112.0	112.0					11																	58919681		2201	4295	6496	SO:0001819	synonymous_variant	63901				proteolysis		serine-type endopeptidase activity	g.chr11:58919681A>G	AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.540A>G	11.37:g.58919681A>G						FAM111A_ENST00000420244.1_Silent_p.E180E|FAM111A_ENST00000531147.1_Silent_p.E180E|FAM111A_ENST00000361723.3_Silent_p.E180E|FAM111A_ENST00000533703.1_Silent_p.E180E	p.E180E			Q96PZ2	F111A_HUMAN			5	3358	+		all_epithelial(135;0.139)	180					A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Silent	SNP	ENST00000528737.1	37	c.540A>G	CCDS7973.1																																																																																				0.408	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074		16	90	0	0	0	0.500413	0	16	90				
KANK2	25959	broad.mit.edu	37	19	11304613	11304613	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr19:11304613T>C	ENST00000586659.1	-	4	457	c.143A>G	c.(142-144)aAg>aGg	p.K48R	KANK2_ENST00000589894.1_Missense_Mutation_p.K48R|KANK2_ENST00000355150.5_Missense_Mutation_p.K48R|KANK2_ENST00000432929.2_Missense_Mutation_p.K48R|KANK2_ENST00000589359.1_Missense_Mutation_p.K48R			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	48	Interaction with AIFM1.				apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ATCCACGTACTTGAGGAAGTC	0.692																																						ENST00000432929.2																			0				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(142-144)aAg>aGg		KN motif and ankyrin repeat domains 2							45.0	50.0	48.0					19																	11304613		2203	4300	6503	SO:0001583	missense	25959							g.chr19:11304613T>C	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	29300	protein-coding gene	gene with protein product		614610	"""matrix-remodelling associated 3"", ""ankyrin repeat domain 25"""	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.143A>G	19.37:g.11304613T>C	ENSP00000465650:p.Lys48Arg					KANK2_ENST00000589359.1_Missense_Mutation_p.K48R|KANK2_ENST00000589894.1_Missense_Mutation_p.K48R|KANK2_ENST00000355150.5_Missense_Mutation_p.K48R|KANK2_ENST00000586659.1_Missense_Mutation_p.K48R	p.K48R	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN			4	503	-			48					B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Missense_Mutation	SNP	ENST00000586659.1	37	c.143A>G	CCDS12255.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.768257	0.90020	.	.	ENSG00000197256	ENST00000432929;ENST00000355150	D;D	0.84223	-1.82;-1.78	4.28	4.28	0.50868	Kank N-terminal motif (1);	0.000000	0.85682	D	0.000000	D	0.90573	0.7045	M	0.71036	2.16	0.38858	D	0.956424	D;D;D	0.71674	0.996;0.993;0.998	D;D;D	0.80764	0.99;0.985;0.994	D	0.91049	0.4877	10	0.45353	T	0.12	-22.2899	12.3987	0.55399	0.0:0.0:0.0:1.0	.	48;48;48	Q63ZY3-3;Q63ZY3;Q63ZY3-2	.;KANK2_HUMAN;.	R	48	ENSP00000395650:K48R;ENSP00000347276:K48R	ENSP00000347276:K48R	K	-	2	0	KANK2	11165613	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.443000	0.80521	1.569000	0.49696	0.379000	0.24179	AAG		0.692	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		17	52	0	0	0	0.520397	0	17	52				
PCDHGA2	56113	broad.mit.edu	37	5	140720528	140720528	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr5:140720528G>A	ENST00000394576.2	+	1	1990	c.1990G>A	c.(1990-1992)Gtg>Atg	p.V664M	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	664	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)			CACCGTGGCCGTGGCCGACAG	0.677																																						ENST00000394576.2																			0				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						c.(1990-1992)Gtg>Atg									33.0	42.0	39.0					5																	140720528		2198	4281	6479	SO:0001583	missense	0							g.chr5:140720528G>A	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.1990G>A	5.37:g.140720528G>A	ENSP00000378077:p.Val664Met					PCDHGA1_ENST00000517417.1_Intron	p.V664M	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1990	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.1990G>A	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	10.06	1.246869	0.22796	.	.	ENSG00000081853	ENST00000394576	T	0.68181	-0.31	5.14	0.218	0.15270	Cadherin (4);Cadherin-like (1);	0.553031	0.13737	U	0.366252	T	0.76463	0.3991	M	0.94063	3.49	0.09310	N	0.999992	P;P	0.52463	0.889;0.953	B;P	0.50192	0.306;0.634	T	0.67894	-0.5552	10	0.72032	D	0.01	.	6.4824	0.22069	0.4454:0.1202:0.4344:0.0	.	664;664	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	M	664	ENSP00000378077:V664M	ENSP00000378077:V664M	V	+	1	0	PCDHGA2	140700712	0.000000	0.05858	0.001000	0.08648	0.065000	0.16274	-1.818000	0.01717	-0.174000	0.10743	0.485000	0.47835	GTG		0.677	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		12	115	0	0	0	0.387290	0	12	115				
TRIM21	6737	broad.mit.edu	37	11	4411307	4411307	+	Silent	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr11:4411307G>A	ENST00000254436.7	-	2	445	c.333C>T	c.(331-333)tgC>tgT	p.C111C	TRIM21_ENST00000543625.1_Silent_p.C111C	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	111					cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		CACATACCCAGCAAAGGGCCT	0.577																																						ENST00000254436.7																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16						c.(331-333)tgC>tgT		tripartite motif containing 21							74.0	78.0	77.0					11																	4411307		2046	4190	6236	SO:0001819	synonymous_variant	6737				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4411307G>A	AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	11312	protein-coding gene	gene with protein product		109092	"""Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)"", ""tripartite motif-containing 21"""	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.333C>T	11.37:g.4411307G>A						TRIM21_ENST00000543625.1_Silent_p.C111C	p.C111C	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)	2	445	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	111					Q5XPV5|Q96RF8	Silent	SNP	ENST00000254436.7	37	c.333C>T	CCDS44525.1																																																																																				0.577	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385842.1	NM_003141		3	41	0	0	0	0.115264	0	3	41				
STAB2	55576	broad.mit.edu	37	12	104107521	104107521	+	Silent	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr12:104107521C>T	ENST00000388887.2	+	42	4716	c.4512C>T	c.(4510-4512)taC>taT	p.Y1504Y		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AAGCAGGCTACACGGGTGATG	0.517																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(4510-4512)taC>taT		stabilin 2							300.0	267.0	278.0					12																	104107521		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104107521C>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.4512C>T	12.37:g.104107521C>T							p.Y1504Y	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			42	4716	+			1504			EGF-like 12.			Silent	SNP	ENST00000388887.2	37	c.4512C>T	CCDS31888.1																																																																																				0.517	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			19	203	0	0	0	0.624587	0	19	203				
HPCA	3208	broad.mit.edu	37	1	33354639	33354639	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr1:33354639A>G	ENST00000373467.3	+	2	242	c.140A>G	c.(139-141)gAg>gGg	p.E47G	HPCA_ENST00000480118.1_3'UTR	NM_002143.2	NP_002134.2	P84074	HPCA_HUMAN	hippocalcin	47	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				inner ear development (GO:0048839)		actin binding (GO:0003779)|calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				AATGTGGATGAGTTCAAGAAG	0.537																																						ENST00000373467.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						c.(139-141)gAg>gGg		hippocalcin							103.0	94.0	97.0					1																	33354639		2203	4300	6503	SO:0001583	missense	3208						actin binding|calcium ion binding	g.chr1:33354639A>G	BC001777	CCDS370.1	1p35-p34.2	2013-01-10			ENSG00000121905	ENSG00000121905		"""EF-hand domain containing"""	5144	protein-coding gene	gene with protein product		142622				8166736, 9931466	Standard	NM_002143		Approved		uc001bwh.3	P84074	OTTHUMG00000004017	ENST00000373467.3:c.140A>G	1.37:g.33354639A>G	ENSP00000362566:p.Glu47Gly					HPCA_ENST00000480118.1_3'UTR	p.E47G	NM_002143.2	NP_002134.2	P84074	HPCA_HUMAN			2	242	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	47			EF-hand 1.		B2R9T3|D3DPQ7|P32076|P41211|P70510	Missense_Mutation	SNP	ENST00000373467.3	37	c.140A>G	CCDS370.1	.	.	.	.	.	.	.	.	.	.	A	16.81	3.224681	0.58668	.	.	ENSG00000121905	ENST00000373467	T	0.75938	-0.98	5.22	5.22	0.72569	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.71134	0.3304	L	0.61387	1.9	0.80722	D	1	B	0.22414	0.069	B	0.19946	0.027	T	0.67511	-0.5652	10	0.32370	T	0.25	.	14.3821	0.66919	1.0:0.0:0.0:0.0	.	47	P84074	HPCA_HUMAN	G	47	ENSP00000362566:E47G	ENSP00000362566:E47G	E	+	2	0	HPCA	33127226	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.053000	0.93860	2.333000	0.79357	0.533000	0.62120	GAG		0.537	HPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011480.1	NM_002143		9	79	0	0	0	0.307466	0	9	79				
ANKRD45	339416	broad.mit.edu	37	1	173593981	173593981	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr1:173593981C>G	ENST00000333279.2	-	5	735	c.675G>C	c.(673-675)caG>caC	p.Q225H		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	241										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						GTTGTTGTCTCTGCTCAAAAA	0.393																																						ENST00000333279.2																			0				NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						c.(673-675)caG>caC		ankyrin repeat domain 45							135.0	129.0	131.0					1																	173593981		2203	4300	6503	SO:0001583	missense	339416							g.chr1:173593981C>G		CCDS1309.1	1q25.1	2013-01-10			ENSG00000183831	ENSG00000183831		"""Ankyrin repeat domain containing"""	24786	protein-coding gene	gene with protein product	"""cancer/testis antigen 117"""						Standard	NM_198493		Approved	FLJ45235, CT117	uc001gja.1	Q5TZF3	OTTHUMG00000040546	ENST00000333279.2:c.675G>C	1.37:g.173593981C>G	ENSP00000331268:p.Gln225His						p.Q225H	NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN			5	735	-			241					A1A4G2|Q6ZST1	Missense_Mutation	SNP	ENST00000333279.2	37	c.675G>C	CCDS1309.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.196159	0.38806	.	.	ENSG00000183831	ENST00000333279	T	0.15017	2.46	5.99	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.27765	0.0683	L	0.58669	1.825	0.41598	D	0.988838	D	0.89917	1.0	D	0.70716	0.97	T	0.00509	-1.1698	10	0.87932	D	0	-11.4662	13.0567	0.58984	0.0:0.9119:0.0:0.0881	.	241	Q5TZF3	ANR45_HUMAN	H	225	ENSP00000331268:Q225H	ENSP00000331268:Q225H	Q	-	3	2	ANKRD45	171860604	1.000000	0.71417	1.000000	0.80357	0.077000	0.17291	2.175000	0.42491	2.840000	0.97914	0.655000	0.94253	CAG		0.393	ANKRD45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097580.2	NM_198493		9	48	0	0	0	0.307466	0	9	48				
ERLIN2	11160	broad.mit.edu	37	8	37601885	37601885	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr8:37601885G>A	ENST00000276461.5	+	5	316	c.249G>A	c.(247-249)atG>atA	p.M83I	ERLIN2_ENST00000518586.1_Missense_Mutation_p.M83I|ERLIN2_ENST00000335171.6_Missense_Mutation_p.M83I|ERLIN2_ENST00000523887.1_Missense_Mutation_p.M83I|ERLIN2_ENST00000523107.1_Missense_Mutation_p.M83I|ERLIN2_ENST00000397228.2_Missense_Mutation_p.M83I|ERLIN2_ENST00000519638.1_Missense_Mutation_p.M83I	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	83					cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GTGGTGTGATGATCTACTTTG	0.507																																						ENST00000276461.5																			0				NS(1)|large_intestine(1)|lung(5)	7						c.(247-249)atG>atA		ER lipid raft associated 2							330.0	308.0	316.0					8																	37601885		2203	4300	6503	SO:0001583	missense	11160				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding	g.chr8:37601885G>A	AY358108	CCDS6095.1, CCDS34879.1	8p11.2	2012-11-23	2007-01-26	2007-01-26	ENSG00000147475	ENSG00000147475			1356	protein-coding gene	gene with protein product		611605	"""chromosome 8 open reading frame 2"", ""SPFH domain family, member 2"""	C8orf2, SPFH2, Erlin-2		10449903, 15897872, 16835267	Standard	NM_007175		Approved	NET32, SPG18	uc003xke.4	O94905	OTTHUMG00000164005	ENST00000276461.5:c.249G>A	8.37:g.37601885G>A	ENSP00000276461:p.Met83Ile					ERLIN2_ENST00000523107.1_Missense_Mutation_p.M83I|ERLIN2_ENST00000335171.6_Missense_Mutation_p.M83I|ERLIN2_ENST00000397228.2_Missense_Mutation_p.M83I|ERLIN2_ENST00000519638.1_Missense_Mutation_p.M83I|ERLIN2_ENST00000518586.1_Missense_Mutation_p.M83I|ERLIN2_ENST00000523887.1_Missense_Mutation_p.M83I	p.M83I	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		5	316	+		Lung NSC(58;0.174)	83					A0JLQ1|A8K5S9|B4DM38|D3DSW0|Q6NW21|Q86VS6|Q86W49	Missense_Mutation	SNP	ENST00000276461.5	37	c.249G>A	CCDS6095.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.105839	0.77096	.	.	ENSG00000147475	ENST00000397228;ENST00000518526;ENST00000523887;ENST00000276461;ENST00000518586;ENST00000335171;ENST00000521644;ENST00000519638	D;T;D;D;D;D;D;D	0.94046	-3.34;-1.15;-3.34;-3.34;-3.34;-3.34;-3.34;-3.34	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.95020	0.8388	L	0.41236	1.265	0.80722	D	1	P;B;B	0.49559	0.925;0.066;0.036	D;B;B	0.65140	0.932;0.039;0.016	D	0.93244	0.6629	10	0.34782	T	0.22	-45.7792	20.5827	0.99408	0.0:0.0:1.0:0.0	.	83;83;83	O94905;O94905-3;O94905-2	ERLN2_HUMAN;.;.	I	83;40;83;83;83;83;83;83	ENSP00000380405:M83I;ENSP00000429229:M40I;ENSP00000429903:M83I;ENSP00000276461:M83I;ENSP00000427847:M83I;ENSP00000335220:M83I;ENSP00000429621:M83I;ENSP00000428112:M83I	ENSP00000276461:M83I	M	+	3	0	ERLIN2	37721043	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.803000	0.99136	2.941000	0.99782	0.655000	0.94253	ATG		0.507	ERLIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376712.2	NM_007175		18	257	0	0	0	0.539581	0	18	257				
PCDHA7	56141	broad.mit.edu	37	5	140214180	140214180	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr5:140214180G>A	ENST00000525929.1	+	1	212	c.212G>A	c.(211-213)cGt>cAt	p.R71H	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R71H|PCDHA5_ENST00000529859.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	71	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(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAAATTCCGTGGGGATCTT	0.617																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(211-213)cGt>cAt									102.0	121.0	115.0					5																	140214180		2203	4300	6503	SO:0001583	missense	0							g.chr5:140214180G>A	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.212G>A	5.37:g.140214180G>A	ENSP00000436426:p.Arg71His					PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R71H|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron	p.R71H	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	212	+								O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.212G>A	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	G	2.926	-0.222223	0.06061	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.29397	1.57;1.57	4.17	2.33	0.28932	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	0.270973	0.18904	U	0.127960	T	0.19765	0.0475	L	0.41492	1.28	0.09310	N	1	B;B	0.18166	0.008;0.026	B;B	0.12837	0.004;0.008	T	0.21724	-1.0237	10	0.21014	T	0.42	.	4.8694	0.13625	0.2551:0.1576:0.5873:0.0	.	71;71	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	H	71	ENSP00000436426:R71H;ENSP00000367365:R71H	ENSP00000367365:R71H	R	+	2	0	PCDHA7	140194364	0.000000	0.05858	0.306000	0.25113	0.377000	0.30045	-0.075000	0.11431	0.321000	0.23259	0.449000	0.29647	CGT		0.617	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		15	247	0	0	0	0.500413	0	15	247				
IGHV3-11	28450	broad.mit.edu	37	14	106573439	106573439	+	RNA	SNP	T	T	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr14:106573439T>A	ENST00000390601.2	-	0	264									immunoglobulin heavy variable 3-11 (gene/pseudogene)																		TAGTAGTCACTGAAGGTGAAT	0.557																																						ENST00000390601.2																			0																				139.0	119.0	125.0					14																	106573439		1855	4096	5951			0							g.chr14:106573439T>A	M99652		14q32.33	2012-02-08	2008-09-12		ENSG00000211941	ENSG00000211941		"""Immunoglobulins / IGH locus"""	5580	other	immunoglobulin gene			"""immunoglobulin heavy variable 3-11"""				Standard	NG_001019		Approved				OTTHUMG00000152277		14.37:g.106573439T>A														0	264	-									RNA	SNP	ENST00000390601.2	37																																																																																						0.557	IGHV3-11-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325665.1	NG_001019		28	190	0	0	0	0.717897	0	28	190				
REEP1	65055	broad.mit.edu	37	2	86459814	86459814	+	Missense_Mutation	SNP	G	G	A	rs144874997	byFrequency	TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr2:86459814G>A	ENST00000165698.5	-	6	672	c.529C>T	c.(529-531)Cgg>Tgg	p.R177W	REEP1_ENST00000540790.1_Missense_Mutation_p.R156W|REEP1_ENST00000541910.1_Silent_p.G98G|REEP1_ENST00000473407.1_5'Flank|REEP1_ENST00000538924.1_Missense_Mutation_p.R184W|REEP1_ENST00000535845.1_Missense_Mutation_p.R150W	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1	177					cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein insertion into membrane (GO:0051205)|regulation of intracellular transport (GO:0032386)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	microtubule binding (GO:0008017)|olfactory receptor binding (GO:0031849)			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						CCGCTGGCCCGCCCAGACCCC	0.637													G|||	6	0.00119808	0.0045	0.0	5008	,	,		16075	0.0		0.0	False		,,,				2504	0.0					ENST00000165698.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(529-531)Cgg>Tgg		receptor accessory protein 1		G	TRP/ARG,TRP/ARG,TRP/ARG,	14,4392	21.2+/-45.6	0,14,2189	39.0	36.0	37.0		550,448,529,294	1.2	0.9	2	dbSNP_134	37	0,8600		0,0,4300	yes	missense,missense,missense,coding-synonymous	REEP1	NM_001164730.1,NM_001164731.1,NM_022912.2,NM_001164732.1	101,101,101,	0,14,6489	AA,AG,GG		0.0,0.3177,0.1076	probably-damaging,probably-damaging,probably-damaging,	184/209,150/175,177/202,98/144	86459814	14,12992	2203	4300	6503	SO:0001583	missense	65055				cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding	g.chr2:86459814G>A	AK023172	CCDS1989.1, CCDS54372.1, CCDS54373.1, CCDS54374.1	2p11.2	2014-09-17	2006-02-07	2006-02-07	ENSG00000068615	ENSG00000068615		"""Receptor accessory proteins"""	25786	protein-coding gene	gene with protein product	"""receptor expression enhancing protein 1"""	609139	"""chromosome 2 open reading frame 23"""	C2orf23		16271481, 15550249	Standard	NM_022912		Approved	FLJ13110, SPG31	uc002srh.4	Q9H902	OTTHUMG00000130205	ENST00000165698.5:c.529C>T	2.37:g.86459814G>A	ENSP00000165698:p.Arg177Trp					REEP1_ENST00000540790.1_Missense_Mutation_p.R156W|REEP1_ENST00000535845.1_Missense_Mutation_p.R150W|REEP1_ENST00000541910.1_Silent_p.G98G|REEP1_ENST00000538924.1_Missense_Mutation_p.R184W	p.R177W	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN			6	672	-			177					B7Z4D7|B7Z4F2|B7Z5R9|D6W5M2|Q53TI0	Missense_Mutation	SNP	ENST00000165698.5	37	c.529C>T	CCDS1989.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	20.9	4.062459	0.76187	0.003177	0.0	ENSG00000068615	ENST00000165698;ENST00000538924;ENST00000535845;ENST00000540790;ENST00000453231	D;D;D;D;D	0.88509	-2.37;-2.39;-1.53;-1.53;-2.34	5.48	1.18	0.20946	.	3.018540	0.01355	N	0.012046	D	0.94026	0.8086	.	.	.	0.30415	N	0.778655	D;D;D	0.76494	0.999;0.999;0.999	P;D;P	0.63488	0.756;0.915;0.853	T	0.82049	-0.0650	9	0.66056	D	0.02	.	13.1717	0.59602	0.0:0.0:0.4584:0.5416	.	150;156;177	B7Z5R9;F5H7Z9;Q9H902	.;.;REEP1_HUMAN	W	177;184;150;156;184	ENSP00000165698:R177W;ENSP00000438346:R184W;ENSP00000437567:R150W;ENSP00000443831:R156W;ENSP00000392197:R184W	ENSP00000165698:R177W	R	-	1	2	REEP1	86313325	0.254000	0.23992	0.926000	0.36857	0.929000	0.56500	0.630000	0.24553	0.305000	0.22832	0.655000	0.94253	CGG		0.637	REEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252523.2	NM_022912		10	52	0	0	0	0.335167	0	10	52				
PTPRJ	5795	broad.mit.edu	37	11	48161138	48161138	+	Silent	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr11:48161138G>A	ENST00000418331.2	+	11	2605	c.2253G>A	c.(2251-2253)gaG>gaA	p.E751E		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	751	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CAGGCTTTGAGCTGGAGGTCA	0.562																																						ENST00000418331.2																			0				breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(2251-2253)gaG>gaA		protein tyrosine phosphatase, receptor type, J							71.0	69.0	70.0					11																	48161138		2201	4298	6499	SO:0001819	synonymous_variant	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48161138G>A	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.2253G>A	11.37:g.48161138G>A							p.E751E	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN			11	2605	+			751			Fibronectin type-III 8.		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Silent	SNP	ENST00000418331.2	37	c.2253G>A	CCDS7945.1																																																																																				0.562	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			5	53	0	0	0	0.184627	0	5	53				
KIAA0319	9856	broad.mit.edu	37	6	24596291	24596291	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr6:24596291G>T	ENST00000378214.3	-	3	1135	c.611C>A	c.(610-612)gCg>gAg	p.A204E	KIAA0319_ENST00000535378.1_Missense_Mutation_p.A195E|KIAA0319_ENST00000430948.2_Missense_Mutation_p.A159E|KIAA0319_ENST00000537886.1_Missense_Mutation_p.A204E|KIAA0319_ENST00000543707.1_Missense_Mutation_p.A204E	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	204					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CGCTGGCACCGCAGGACTGTC	0.622																																						ENST00000535378.1																			0				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						c.(583-585)gCg>gAg		KIAA0319							39.0	35.0	37.0					6																	24596291		2203	4300	6503	SO:0001583	missense	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24596291G>T	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.611C>A	6.37:g.24596291G>T	ENSP00000367459:p.Ala204Glu					KIAA0319_ENST00000378214.3_Missense_Mutation_p.A204E|KIAA0319_ENST00000543707.1_Missense_Mutation_p.A204E|KIAA0319_ENST00000430948.2_Missense_Mutation_p.A159E|KIAA0319_ENST00000537886.1_Missense_Mutation_p.A204E	p.A195E	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN			4	1226	-			204					A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	c.584C>A	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	G	3.316	-0.139788	0.06669	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.06849	3.26;3.25;3.25;3.26;3.26	4.24	1.41	0.22369	.	1.495310	0.04213	N	0.332133	T	0.01592	0.0051	L	0.27053	0.805	0.09310	N	1	B;P;P	0.47191	0.099;0.891;0.826	B;B;B	0.41988	0.02;0.372;0.206	T	0.38308	-0.9667	10	0.07482	T	0.82	-0.7898	5.6827	0.17784	0.1738:0.0:0.5031:0.3231	.	204;195;204	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	E	204;195;159;204;204	ENSP00000439700:A204E;ENSP00000442403:A195E;ENSP00000401086:A159E;ENSP00000367459:A204E;ENSP00000437656:A204E	ENSP00000367459:A204E	A	-	2	0	KIAA0319	24704270	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.516000	0.22817	-0.315000	0.08703	-1.817000	0.00601	GCG		0.622	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		3	36	1	0	0.004672	0.115264	0.00491159	3	36				
SLC5A12	159963	broad.mit.edu	37	11	26743040	26743040	+	Silent	SNP	G	G	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr11:26743040G>T	ENST00000396005.3	-	1	531	c.222C>A	c.(220-222)gtC>gtA	p.V74V	SLC5A12_ENST00000280467.6_Silent_p.V74V	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	74					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CAAAGCGGTAGACTTCAGAAG	0.512																																						ENST00000396005.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						c.(220-222)gtC>gtA		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12							87.0	88.0	88.0					11																	26743040		2203	4299	6502	SO:0001819	synonymous_variant	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26743040G>T	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.222C>A	11.37:g.26743040G>T						SLC5A12_ENST00000280467.6_Silent_p.V74V	p.V74V	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN			1	531	-			74					Q86UC7	Silent	SNP	ENST00000396005.3	37	c.222C>A	CCDS7860.2																																																																																				0.512	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		7	74	1	0	1.26484e-09	0.278610	1.42078e-09	7	74				
PCSK2	5126	broad.mit.edu	37	20	17436993	17436993	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr20:17436993G>A	ENST00000262545.2	+	10	1417	c.1102G>A	c.(1102-1104)Gca>Aca	p.A368T	PCSK2_ENST00000377899.1_Splice_Site_p.A349T|PCSK2_ENST00000536609.1_Splice_Site_p.A333T	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	368	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TCCCTTCCAGGCAACCACAGA	0.488																																						ENST00000262545.2																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.e10-1		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						174.0	177.0	176.0					20																	17436993		2203	4300	6503	SO:0001630	splice_region_variant	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17436993G>A	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1102-1G>A	20.37:g.17436993G>A						PCSK2_ENST00000536609.1_Splice_Site_p.A333_splice|PCSK2_ENST00000377899.1_Splice_Site_p.A349_splice	p.A368_splice	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN			10	1417	+			368			Catalytic.		B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Splice_Site	SNP	ENST00000262545.2	37	c.1101_splice	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745842	0.89663	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	D;D;D	0.87571	-2.27;-2.27;-2.27	5.93	5.93	0.95920	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.044281	0.85682	N	0.000000	D	0.89312	0.6679	L	0.33624	1.015	0.80722	D	1	P;B	0.46578	0.88;0.132	P;B	0.59546	0.859;0.16	D	0.86973	0.2099	9	.	.	.	-17.9808	18.8972	0.92429	0.0:0.0:1.0:0.0	.	333;368	B4DFQ3;P16519	.;NEC2_HUMAN	T	349;368;333	ENSP00000367131:A349T;ENSP00000262545:A368T;ENSP00000437458:A333T	.	A	+	1	0	PCSK2	17384993	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.911000	0.87458	2.818000	0.97014	0.591000	0.81541	GCA		0.488	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594	Missense_Mutation	15	180	0	0	0	0.479597	0	15	180				
PRAMEF2	65122	broad.mit.edu	37	1	12921405	12921405	+	Missense_Mutation	SNP	G	G	A	rs143742734	byFrequency	TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr1:12921405G>A	ENST00000240189.2	+	4	1283	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	399					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GACCTGCTGCGCCACACCAGT	0.557																																						ENST00000240189.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42						c.(1195-1197)cGc>cAc		PRAME family member 2		G	HIS/ARG	1,4403	2.1+/-5.4	0,1,2201	70.0	73.0	72.0		1196	-1.6	0.0	1	dbSNP_134	72	1,8591	2.2+/-6.3	0,1,4295	no	missense	PRAMEF2	NM_023014.1	29	0,2,6496	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	399/475	12921405	2,12994	2202	4296	6498	SO:0001583	missense	65122							g.chr1:12921405G>A		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.1196G>A	1.37:g.12921405G>A	ENSP00000240189:p.Arg399His						p.R399H	NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1283	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	399						Missense_Mutation	SNP	ENST00000240189.2	37	c.1196G>A	CCDS149.1	.	.	.	.	.	.	.	.	.	.	G	0.430	-0.903719	0.02453	2.27E-4	1.16E-4	ENSG00000120952	ENST00000240189	T	0.49432	0.78	0.824	-1.65	0.08291	.	1.555060	0.04295	N	0.346332	T	0.30634	0.0771	L	0.31578	0.945	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.08330	-1.0727	10	0.13470	T	0.59	.	4.0967	0.09995	0.6152:0.0:0.3848:0.0	.	399	O60811	PRAM2_HUMAN	H	399	ENSP00000240189:R399H	ENSP00000240189:R399H	R	+	2	0	PRAMEF2	12843992	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.445000	0.02401	-0.729000	0.04875	-1.252000	0.01501	CGC		0.557	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		19	124	0	0	0	0.575678	0	19	124				
IQGAP1	8826	broad.mit.edu	37	15	91040570	91040570	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr15:91040570C>T	ENST00000268182.5	+	37	4982	c.4858C>T	c.(4858-4860)Cag>Tag	p.Q1620*	IQGAP1_ENST00000560738.1_Nonsense_Mutation_p.Q1048*	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1620	C2.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GTTACATTATCAGGTGGGTAT	0.388																																						ENST00000268182.5																			0				breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(4858-4860)Cag>Tag		IQ motif containing GTPase activating protein 1							50.0	49.0	49.0					15																	91040570		2198	4298	6496	SO:0001587	stop_gained	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91040570C>T	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.4858C>T	15.37:g.91040570C>T	ENSP00000268182:p.Gln1620*					IQGAP1_ENST00000560738.1_Nonsense_Mutation_p.Q1048*	p.Q1620*	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		37	4982	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		1620			C2.		A7MBM3	Nonsense_Mutation	SNP	ENST00000268182.5	37	c.4858C>T	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	C	42	9.806349	0.99268	.	.	ENSG00000140575	ENST00000268182	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-25.8823	19.6321	0.95713	0.0:1.0:0.0:0.0	.	.	.	.	X	1620	.	ENSP00000268182:Q1620X	Q	+	1	0	IQGAP1	88841574	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.658000	0.83755	2.884000	0.98904	0.655000	0.94253	CAG		0.388	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		14	29	0	0	0	0.435327	0	14	29				
FKBP9P1	360132	broad.mit.edu	37	7	55755596	55755596	+	RNA	SNP	G	G	T			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr7:55755596G>T	ENST00000455909.1	-	0	410				RNU6-389P_ENST00000517048.1_RNA	NR_027340.1|NR_027342.1		Q75LS8	FKB9L_HUMAN							protein folding (GO:0006457)		calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5						GAACAATACTGTAAGTTTTGC	0.478																																						ENST00000455909.1																			0				endometrium(1)|kidney(1)|lung(3)	5								FK506 binding protein 9-like							175.0	161.0	165.0					7																	55755596		692	1591	2283			360132							g.chr7:55755596G>T																													7.37:g.55755596G>T								NR_027340.1|NR_027342.1						0	410	-								B2R7H1	RNA	SNP	ENST00000455909.1	37																																																																																						0.478	FKBP9L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000251473.2			9	75	1	0	1.58986e-06	0.361761	1.76174e-06	9	75				
UBXN4	23190	broad.mit.edu	37	2	136536538	136536540	+	In_Frame_Del	DEL	TAA	TAA	-			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr2:136536538_136536540delTAA	ENST00000272638.9	+	11	1385_1387	c.1074_1076delTAA	c.(1072-1077)ggtaat>ggt	p.N359del	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	359	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.				response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						ACACTTACGGTAATTTTTCGTTA	0.35																																						ENST00000272638.9																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						c.(1072-1077)ggt>gg		UBX domain protein 4																																				SO:0001651	inframe_deletion	23190				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding	g.chr2:136536538_136536540delTAA	D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"""UBX domain containing"""	14860	protein-coding gene	gene with protein product	"""erasin"""	611216	"""UBX domain-containing 2"", ""UBX domain containing 2"""	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.1074_1076delTAA	2.37:g.136536538_136536540delTAA	ENSP00000272638:p.Asn359del					UBXN4_ENST00000490163.1_3'UTR	p.GN358del	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN			11	1385_1387	+			358			UBX.		A8K9W4|Q4ZG56|Q8IYM5	In_Frame_Del	DEL	ENST00000272638.9	37	c.1074_1076delTAA	CCDS42761.1																																																																																				0.350	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331696.1	NM_014607		9	81						9	81	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32091103	32091104	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr5:32091103_32091104insC	ENST00000438447.1	+	20	7937_7938	c.7549_7550insC	c.(7549-7551)accfs	p.T2517fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.T2517fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	2517					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCTGGAGATCACCCCCAGGAGG	0.614																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(7549-7551)cccfs		PDZ domain containing 2																																				SO:0001589	frameshift_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32091103_32091104insC	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.7554dupC	5.37:g.32091108_32091108dupC	ENSP00000402033:p.Thr2517fs					PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.P2517fs	p.P2517fs			O15018	PDZD2_HUMAN			20	7937_7938	+			2517					Q9BXD4	Frame_Shift_Ins	INS	ENST00000438447.1	37	c.7549_7550insC	CCDS34137.1																																																																																				0.614	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			9	93						9	93	---	---	---	---
HLA-V	352962	broad.mit.edu	37	6	29760353	29760373	+	RNA	DEL	GCGGGCGCCGTGGATGGAGCA	GCGGGCGCCGTGGATGGAGCA	-	rs60681449|rs2905755|rs140982245	byFrequency	TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	ENST00000457107.1	+	0	223_243									major histocompatibility complex, class I, V (pseudogene)																		GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG	0.674																																						ENST00000457107.1																			0																																																			0							g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29760353_29760373delGCGGGCGCCGTGGATGGAGCA														0	223_243	+									RNA	DEL	ENST00000457107.1	37																																																																																						0.674	HLA-V-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000105231.1	NG_002729		4	9						4	9	---	---	---	---
INTS4L2	644619	broad.mit.edu	37	7	65150824	65150825	+	RNA	INS	-	-	G	rs374730441|rs202004878|rs183571014|rs553737227	byFrequency	TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr7:65150824_65150825insG	ENST00000430126.2	+	0	757							Q2T9F4	IN4L2_HUMAN	integrator complex subunit 4-like 2																		TCACCCCCCCCCCCGTTAAAAT	0.47																																						ENST00000430126.2																			0																																																			0							g.chr7:65150824_65150825insG	BC111554		7q11.21	2013-03-26			ENSG00000232270	ENSG00000273024			22351	other	unknown							Standard	NR_027392		Approved	MGC133166	uc003tue.2	Q2T9F4	OTTHUMG00000156558		7.37:g.65150824_65150825insG														0	757	+									RNA	INS	ENST00000430126.2	37																																																																																						0.470	INTS4L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345545.2	NR_027392		2	4						2	4	---	---	---	---
VCPIP1	80124	broad.mit.edu	37	8	67578194	67578195	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr8:67578194_67578195insA	ENST00000310421.4	-	1	1257_1258	c.999_1000insT	c.(997-1002)actgggfs	p.G334fs	C8orf44_ENST00000519561.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	334	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CCATCTTTCCCAGTGCACTTCT	0.47																																					NSCLC(179;265 2915 6144 43644)	ENST00000310421.4																			0				breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(997-1002)acggaafs		valosin containing protein (p97)/p47 complex interacting protein 1																																				SO:0001589	frameshift_variant	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67578194_67578195insA	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.1000dupT	8.37:g.67578195_67578195dupA	ENSP00000309031:p.Gly334fs						p.E334fs	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	1257_1258	-		Lung NSC(129;0.142)|all_lung(136;0.227)	334			OTU.		Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Frame_Shift_Ins	INS	ENST00000310421.4	37	c.999_1000insT	CCDS6192.1																																																																																				0.470	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			13	146						13	146	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539|rs62026972	byFrequency	TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.576																																						ENST00000561463.1																			0																																																			0							g.chr15:102293062_102293064delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102293062_102293064delCTC														0	1108_1110	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.576	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	5						3	5	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7576890	7576890	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr17:7576890delT	ENST00000269305.4	-	9	1145	c.956delA	c.(955-957)aagfs	p.K321fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.K321fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.K321fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.K321fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Del_p.K321fs	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	321	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.		K -> E (in kidney cancer; germline mutation).|K -> R (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.P318fs*15(2)|p.P318fs*21(1)|p.S315fs*22(1)|p.?(1)|p.K319R(1)|p.S314fs*25(1)|p.L308fs*15(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)	TGGTTTCTTCTTTGGCTGGGG	0.468		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)	ENST00000420246.2		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"""		16	Whole gene deletion(8)|Deletion - Frameshift(6)|Substitution - Missense(1)|Unknown(1)	p.0?(8)|p.P318fs*15(2)|p.P318fs*21(1)|p.S315fs*22(1)|p.?(1)|p.K319R(1)|p.S314fs*25(1)|p.L308fs*15(1)	bone(4)|breast(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|lung(1)|ovary(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						c.(955-957)agfs	Other conserved DNA damage response genes	tumor protein p53							128.0	118.0	121.0					17																	7576890		2203	4300	6503	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7576890delT	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.956delA	17.37:g.7576890delT	ENSP00000269305:p.Lys321fs	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_ENST00000445888.2_Frame_Shift_Del_p.K321fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.K321fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.K321fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.K321fs|TP53_ENST00000413465.2_Intron	p.K321fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	9	1088	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	321		K -> E (in kidney cancer; germline mutation).|K -> R (in a sporadic cancer; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.956delA	CCDS11118.1																																																																																				0.468	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		23	40						23	40	---	---	---	---
CTD-2369P2.5	0	broad.mit.edu	37	19	10377498	10377498	+	RNA	DEL	T	T	-	rs554336674		TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr19:10377498delT	ENST00000592893.1	-	0	141																											TCCATAGCCCTTTTTTTTTCC	0.428																																						ENST00000592893.1																			0																																																			0							g.chr19:10377498delT																													19.37:g.10377498delT														0	141	-									RNA	DEL	ENST00000592893.1	37																																																																																						0.428	CTD-2369P2.5-001	KNOWN	basic	antisense	antisense	OTTHUMT00000451205.1			2	4						2	4	---	---	---	---
BRCC3	79184	broad.mit.edu	37	X	154305487	154305487	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chrX:154305487delT	ENST00000369462.1	+	4	263	c.238delT	c.(238-240)ttafs	p.L80fs	MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000369459.2_Frame_Shift_Del_p.L80fs|BRCC3_ENST00000340647.4_Frame_Shift_Del_p.L81fs|BRCC3_ENST00000330045.7_Frame_Shift_Del_p.L80fs|BRCC3_ENST00000399042.1_Frame_Shift_Del_p.L80fs	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	80	MPN.				double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|positive regulation of DNA repair (GO:0045739)|protein K63-linked deubiquitination (GO:0070536)|regulation of catalytic activity (GO:0050790)|response to ionizing radiation (GO:0010212)|response to X-ray (GO:0010165)	BRCA1-A complex (GO:0070531)|BRISC complex (GO:0070552)|nuclear ubiquitin ligase complex (GO:0000152)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	enzyme regulator activity (GO:0030234)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|polyubiquitin binding (GO:0031593)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGTCATCATCTTACGACGTTC	0.433																																						ENST00000369462.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22						c.(238-240)tafs		BRCA1/BRCA2-containing complex, subunit 3							115.0	98.0	103.0					X																	154305487		1876	4099	5975	SO:0001589	frameshift_variant	79184				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:154305487delT	X64643	CCDS56610.1, CCDS56611.1, CCDS56612.1	Xq28	2013-05-29	2005-11-21	2005-11-21	ENSG00000185515	ENSG00000185515			24185	protein-coding gene	gene with protein product	"""Lys-63-specific deubiquitinase"""	300617	"""chromosome X open reading frame 53"""	CXorf53		1303175, 14636569	Standard	NM_024332		Approved	C6.1A, BRCC36	uc004fna.3	P46736	OTTHUMG00000022658	ENST00000369462.1:c.238delT	X.37:g.154305487delT	ENSP00000358474:p.Leu80fs					MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000330045.7_Frame_Shift_Del_p.L80fs|BRCC3_ENST00000340647.4_Frame_Shift_Del_p.L81fs|BRCC3_ENST00000399042.1_Frame_Shift_Del_p.L80fs|BRCC3_ENST00000369459.2_Frame_Shift_Del_p.L80fs	p.L80fs	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN			4	263	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		80					A6QRF8|A6QRF9|A8MUX5|A8MWH0|A9Z1Y0|A9Z1Y5|B1B062|B4DQN7|Q16107|Q53YX5|Q9BTZ6	Frame_Shift_Del	DEL	ENST00000369462.1	37	c.238delT	CCDS56611.1																																																																																				0.433	BRCC3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058788.4	NM_024332		21	23						21	23	---	---	---	---
UBXN4	23190	broad.mit.edu	37	2	136536538	136536540	+	In_Frame_Del	DEL	TAA	TAA	-			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr2:136536538_136536540delTAA	ENST00000272638.9	+	11	1385_1387	c.1074_1076delTAA	c.(1072-1077)ggtaat>ggt	p.N359del	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	359	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.				response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						ACACTTACGGTAATTTTTCGTTA	0.35																																						ENST00000272638.9																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						c.(1072-1077)ggt>gg		UBX domain protein 4																																				SO:0001651	inframe_deletion	23190				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding	g.chr2:136536538_136536540delTAA	D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"""UBX domain containing"""	14860	protein-coding gene	gene with protein product	"""erasin"""	611216	"""UBX domain-containing 2"", ""UBX domain containing 2"""	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.1074_1076delTAA	2.37:g.136536538_136536540delTAA	ENSP00000272638:p.Asn359del					UBXN4_ENST00000490163.1_3'UTR	p.GN358del	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN			11	1385_1387	+			358			UBX.		A8K9W4|Q4ZG56|Q8IYM5	In_Frame_Del	DEL	ENST00000272638.9	37	c.1074_1076delTAA	CCDS42761.1																																																																																				0.350	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331696.1	NM_014607		9	81						9	81	---	---	---	---
HLA-V	352962	broad.mit.edu	37	6	29760353	29760373	+	RNA	DEL	GCGGGCGCCGTGGATGGAGCA	GCGGGCGCCGTGGATGGAGCA	-	rs60681449|rs2905755|rs140982245	byFrequency	TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	ENST00000457107.1	+	0	223_243									major histocompatibility complex, class I, V (pseudogene)																		GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG	0.674																																						ENST00000457107.1																			0																																																			0							g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29760353_29760373delGCGGGCGCCGTGGATGGAGCA														0	223_243	+									RNA	DEL	ENST00000457107.1	37																																																																																						0.674	HLA-V-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000105231.1	NG_002729		4	9						4	9	---	---	---	---
VCPIP1	80124	broad.mit.edu	37	8	67578194	67578195	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr8:67578194_67578195insA	ENST00000310421.4	-	1	1257_1258	c.999_1000insT	c.(997-1002)actgggfs	p.G334fs	C8orf44_ENST00000519561.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	334	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CCATCTTTCCCAGTGCACTTCT	0.47																																					NSCLC(179;265 2915 6144 43644)	ENST00000310421.4																			0				breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(997-1002)acggaafs		valosin containing protein (p97)/p47 complex interacting protein 1																																				SO:0001589	frameshift_variant	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67578194_67578195insA	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.1000dupT	8.37:g.67578195_67578195dupA	ENSP00000309031:p.Gly334fs						p.E334fs	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	1257_1258	-		Lung NSC(129;0.142)|all_lung(136;0.227)	334			OTU.		Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Frame_Shift_Ins	INS	ENST00000310421.4	37	c.999_1000insT	CCDS6192.1																																																																																				0.470	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			13	146						13	146	---	---	---	---
IRF2BPL	64207	broad.mit.edu	37	14	77493762	77493767	+	In_Frame_Del	DEL	TGCTGC	TGCTGC	-	rs553703325|rs556445214|rs200317113	byFrequency	TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr14:77493762_77493767delTGCTGC	ENST00000238647.3	-	1	1267_1272	c.369_374delGCAGCA	c.(367-375)cagcagcaa>caa	p.123_125QQQ>Q		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	123	Poly-Gln.				development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						GAgctgttgttgctgctgctgctgct	0.714														4658	0.930112	0.9297	0.9769	5008	,	,		7189	0.872		0.9712	False		,,,				2504	0.9151					ENST00000238647.3																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						c.(367-375)caa>ca		interferon regulatory factor 2 binding protein-like																																				SO:0001651	inframe_deletion	64207					nucleus		g.chr14:77493762_77493767delTGCTGC	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"""enhanced at puberty 1"""	611720	"""chromosome 14 open reading frame 4"""	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.369_374delGCAGCA	14.37:g.77493768_77493773delTGCTGC	ENSP00000238647:p.Gln125_Gln126del						p.QQQ123del	NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN			1	1267_1272	-			123			Poly-Gln.		Q8NDQ2|Q96JG2|Q9H3I7	In_Frame_Del	DEL	ENST00000238647.3	37	c.369_374delGCAGCA	CCDS9854.1																																																																																				0.714	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		2	4						2	4	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7576890	7576890	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chr17:7576890delT	ENST00000269305.4	-	9	1145	c.956delA	c.(955-957)aagfs	p.K321fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.K321fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.K321fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.K321fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Del_p.K321fs	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	321	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.		K -> E (in kidney cancer; germline mutation).|K -> R (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.P318fs*15(2)|p.P318fs*21(1)|p.S315fs*22(1)|p.?(1)|p.K319R(1)|p.S314fs*25(1)|p.L308fs*15(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)	TGGTTTCTTCTTTGGCTGGGG	0.468		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)	ENST00000420246.2		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"""		16	Whole gene deletion(8)|Deletion - Frameshift(6)|Substitution - Missense(1)|Unknown(1)	p.0?(8)|p.P318fs*15(2)|p.P318fs*21(1)|p.S315fs*22(1)|p.?(1)|p.K319R(1)|p.S314fs*25(1)|p.L308fs*15(1)	bone(4)|breast(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|lung(1)|ovary(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						c.(955-957)agfs	Other conserved DNA damage response genes	tumor protein p53							128.0	118.0	121.0					17																	7576890		2203	4300	6503	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7576890delT	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.956delA	17.37:g.7576890delT	ENSP00000269305:p.Lys321fs	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_ENST00000359597.4_Frame_Shift_Del_p.K321fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.K321fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.K321fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Frame_Shift_Del_p.K321fs	p.K321fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	9	1088	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	321		K -> E (in kidney cancer; germline mutation).|K -> R (in a sporadic cancer; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.956delA	CCDS11118.1																																																																																				0.468	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		23	40						23	40	---	---	---	---
BRCC3	79184	broad.mit.edu	37	X	154305487	154305487	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	5283bf06-ce44-43f9-8e11-aaade17bab02	g.chrX:154305487delT	ENST00000369462.1	+	4	263	c.238delT	c.(238-240)ttafs	p.L80fs	MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000369459.2_Frame_Shift_Del_p.L80fs|BRCC3_ENST00000340647.4_Frame_Shift_Del_p.L81fs|BRCC3_ENST00000330045.7_Frame_Shift_Del_p.L80fs|BRCC3_ENST00000399042.1_Frame_Shift_Del_p.L80fs	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	80	MPN.				double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|positive regulation of DNA repair (GO:0045739)|protein K63-linked deubiquitination (GO:0070536)|regulation of catalytic activity (GO:0050790)|response to ionizing radiation (GO:0010212)|response to X-ray (GO:0010165)	BRCA1-A complex (GO:0070531)|BRISC complex (GO:0070552)|nuclear ubiquitin ligase complex (GO:0000152)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	enzyme regulator activity (GO:0030234)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|polyubiquitin binding (GO:0031593)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGTCATCATCTTACGACGTTC	0.433																																						ENST00000369462.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22						c.(238-240)tafs		BRCA1/BRCA2-containing complex, subunit 3							115.0	98.0	103.0					X																	154305487		1876	4099	5975	SO:0001589	frameshift_variant	79184				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:154305487delT	X64643	CCDS56610.1, CCDS56611.1, CCDS56612.1	Xq28	2013-05-29	2005-11-21	2005-11-21	ENSG00000185515	ENSG00000185515			24185	protein-coding gene	gene with protein product	"""Lys-63-specific deubiquitinase"""	300617	"""chromosome X open reading frame 53"""	CXorf53		1303175, 14636569	Standard	NM_024332		Approved	C6.1A, BRCC36	uc004fna.3	P46736	OTTHUMG00000022658	ENST00000369462.1:c.238delT	X.37:g.154305487delT	ENSP00000358474:p.Leu80fs					BRCC3_ENST00000369459.2_Frame_Shift_Del_p.L80fs|BRCC3_ENST00000330045.7_Frame_Shift_Del_p.L80fs|BRCC3_ENST00000399042.1_Frame_Shift_Del_p.L80fs|MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000340647.4_Frame_Shift_Del_p.L81fs	p.L80fs	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN			4	263	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		80					A6QRF8|A6QRF9|A8MUX5|A8MWH0|A9Z1Y0|A9Z1Y5|B1B062|B4DQN7|Q16107|Q53YX5|Q9BTZ6	Frame_Shift_Del	DEL	ENST00000369462.1	37	c.238delT	CCDS56611.1																																																																																				0.433	BRCC3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058788.4	NM_024332		21	23						21	23	---	---	---	---
