#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
USP40	55230	broad.mit.edu	37	2	234434124	234434124	+	Splice_Site	SNP	C	C	T	rs376670354		TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:234434124C>T	ENST00000427112.2	-	13	1842	c.1807G>A	c.(1807-1809)Ggg>Agg	p.G603R	USP40_ENST00000251722.6_Splice_Site_p.G603R|USP40_ENST00000450966.1_Splice_Site_p.G615R			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	603					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TTTATCTTACCGCCAAGTGAC	0.403																																						ENST00000251722.6																			0				breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.e14+1		ubiquitin specific peptidase 40		C	ARG/GLY	0,3738		0,0,1869	136.0	128.0	130.0		1843	4.9	0.9	2		130	1,8193		0,1,4096	no	missense-near-splice	USP40	NM_018218.2	125	0,1,5965	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging	615/1248	234434124	1,11931	1869	4097	5966	SO:0001630	splice_region_variant	55230				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:234434124C>T	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.1807+1G>A	2.37:g.234434124C>T						USP40_ENST00000427112.2_Splice_Site_p.G603_splice|USP40_ENST00000450966.1_Splice_Site_p.G615_splice	p.G603_splice			Q9NVE5	UBP40_HUMAN		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	14	1924	-		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)	603					Q6NX38|Q70EL0	Splice_Site	SNP	ENST00000427112.2	37	c.1807_splice	CCDS46547.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757879	0.49468	0.0	1.22E-4	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112	T;T;T	0.62941	-0.01;-0.01;-0.01	5.78	4.88	0.63580	.	0.352176	0.32935	N	0.005469	T	0.51568	0.1682	L	0.41824	1.3	0.48571	D	0.999679	P;P	0.47841	0.747;0.901	B;B	0.38985	0.105;0.287	T	0.51020	-0.8758	9	.	.	.	.	13.9803	0.64301	0.0:0.9248:0.0:0.0752	.	603;615	Q9NVE5;Q9NVE5-3	UBP40_HUMAN;.	R	615;603;603	ENSP00000415434:G615R;ENSP00000251722:G603R;ENSP00000387898:G603R	.	G	-	1	0	USP40	234098863	1.000000	0.71417	0.879000	0.34478	0.378000	0.30076	4.955000	0.63638	1.376000	0.46267	0.563000	0.77884	GGG		0.403	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294	Missense_Mutation	5	40	0	0	0	1	0	5	40				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			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.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	127	0	0	0	1	0	4	127				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29628245G>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.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T	p.A83T							6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	127	0	0	0	1	0	4	127				
CUL5	8065	broad.mit.edu	37	11	107968473	107968473	+	Silent	SNP	C	C	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr11:107968473C>T	ENST00000393094.2	+	17	2632	c.2016C>T	c.(2014-2016)ttC>ttT	p.F672F		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	672					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		ACCAGGAGTTCAGTTTAATGT	0.338																																						ENST00000393094.2																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23						c.(2014-2016)ttC>ttT		cullin 5							92.0	88.0	89.0					11																	107968473		2201	4298	6499	SO:0001819	synonymous_variant	8065				cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding	g.chr11:107968473C>T	X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.2016C>T	11.37:g.107968473C>T							p.F672F	NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)	17	2632	+		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	672					A8K960|O14766|Q9BZC6	Silent	SNP	ENST00000393094.2	37	c.2016C>T	CCDS31668.1																																																																																				0.338	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389429.1			13	80	0	0	0	1	0	13	80				
ACTL8	81569	broad.mit.edu	37	1	18152553	18152553	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr1:18152553G>A	ENST00000375406.1	+	3	856	c.640G>A	c.(640-642)Gtg>Atg	p.V214M		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	214					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CAAGTGCTACGTGCCGCAGAA	0.567											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000375406.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(640-642)Gtg>Atg		actin-like 8							44.0	46.0	45.0					1																	18152553		2203	4300	6503	SO:0001583	missense	81569					cytoplasm|cytoskeleton		g.chr1:18152553G>A	AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"""cancer/testis antigen 57"""						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.640G>A	1.37:g.18152553G>A	ENSP00000364555:p.Val214Met		OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	723		p.V214M	NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	3	856	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	214					Q13104|Q96M75	Missense_Mutation	SNP	ENST00000375406.1	37	c.640G>A	CCDS183.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.484423	0.63962	.	.	ENSG00000117148	ENST00000375406	D	0.97352	-4.35	5.25	4.31	0.51392	.	0.000000	0.40728	N	0.001023	D	0.98639	0.9544	M	0.92691	3.335	0.37170	D	0.903023	D	0.89917	1.0	D	0.72625	0.978	D	0.99959	1.1683	10	0.87932	D	0	-47.031	13.6925	0.62556	0.0:0.1564:0.8436:0.0	.	214	Q9H568	ACTL8_HUMAN	M	214	ENSP00000364555:V214M	ENSP00000364555:V214M	V	+	1	0	ACTL8	18025140	1.000000	0.71417	0.969000	0.41365	0.267000	0.26476	6.869000	0.75521	1.287000	0.44583	0.655000	0.94253	GTG		0.567	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007143.1	NM_030812		9	48	0	0	0	1	0	9	48				
PAPPA	5069	broad.mit.edu	37	9	119106933	119106933	+	Silent	SNP	C	C	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr9:119106933C>T	ENST00000328252.3	+	14	4092	c.3723C>T	c.(3721-3723)agC>agT	p.S1241S	PAPPA_ENST00000534838.1_Silent_p.S279S	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1241	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GTACTGTGAGCTGCCGGACAG	0.582																																						ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(3721-3723)agC>agT		pregnancy-associated plasma protein A, pappalysin 1							94.0	79.0	84.0					9																	119106933		2203	4300	6503	SO:0001819	synonymous_variant	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:119106933C>T		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.3723C>T	9.37:g.119106933C>T						PAPPA_ENST00000534838.1_Silent_p.S279S	p.S1241S	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			14	4092	+			1241			Sushi 1.		B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	ENST00000328252.3	37	c.3723C>T	CCDS6813.1																																																																																				0.582	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		4	83	0	0	0	1	0	4	83				
PTPN4	5775	broad.mit.edu	37	2	120567452	120567452	+	Missense_Mutation	SNP	C	C	G			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:120567452C>G	ENST00000263708.2	+	2	794	c.23C>G	c.(22-24)cCt>cGt	p.P8R	PTPN4_ENST00000460162.1_3'UTR	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	8					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TTCCGATTGCCTGCTGGCAGA	0.388																																						ENST00000263708.2																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30						c.(22-24)cCt>cGt		protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	Alendronate(DB00630)						128.0	113.0	118.0					2																	120567452		2203	4300	6503	SO:0001583	missense	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120567452C>G		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.23C>G	2.37:g.120567452C>G	ENSP00000263708:p.Pro8Arg					PTPN4_ENST00000460162.1_3'UTR	p.P8R	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN			2	794	+			8					B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	c.23C>G	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.811342	0.90707	.	.	ENSG00000088179	ENST00000263708;ENST00000420482;ENST00000488279	T;T;T	0.80304	-0.53;0.99;-1.36	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.84406	0.5465	L	0.51422	1.61	0.80722	D	1	D	0.61080	0.989	P	0.53689	0.732	T	0.83344	-0.0006	10	0.45353	T	0.12	.	19.9503	0.97197	0.0:1.0:0.0:0.0	.	8	P29074	PTN4_HUMAN	R	8	ENSP00000263708:P8R;ENSP00000405763:P8R;ENSP00000438445:P8R	ENSP00000263708:P8R	P	+	2	0	PTPN4	120283922	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.403000	0.79983	2.812000	0.96745	0.557000	0.71058	CCT		0.388	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			36	54	0	0	0	1	0	36	54				
UBR5	51366	broad.mit.edu	37	8	103291134	103291134	+	Missense_Mutation	SNP	G	G	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr8:103291134G>T	ENST00000520539.1	-	44	6814	c.6208C>A	c.(6208-6210)Cca>Aca	p.P2070T	UBR5_ENST00000220959.4_Missense_Mutation_p.P2070T|UBR5_ENST00000521922.1_Missense_Mutation_p.P2064T	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2070					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CCCTGACTTGGACGGCCAAAA	0.353																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(6208-6210)Cca>Aca		ubiquitin protein ligase E3 component n-recognin 5							121.0	137.0	131.0					8																	103291134		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103291134G>T	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.6208C>A	8.37:g.103291134G>T	ENSP00000429084:p.Pro2070Thr					UBR5_ENST00000220959.4_Missense_Mutation_p.P2070T|UBR5_ENST00000521922.1_Missense_Mutation_p.P2064T	p.P2070T	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		44	6814	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		2070					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.6208C>A	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888785	0.91814	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.53857	0.6;0.6;0.6	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.70544	0.3236	L	0.55213	1.73	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.76071	0.987;0.987	T	0.69760	-0.5058	10	0.62326	D	0.03	.	20.2825	0.98528	0.0:0.0:1.0:0.0	.	2064;2070	E7EMW7;O95071	.;UBR5_HUMAN	T	2070;2070;2064	ENSP00000429084:P2070T;ENSP00000220959:P2070T;ENSP00000427819:P2064T	ENSP00000220959:P2070T	P	-	1	0	UBR5	103360310	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.420000	0.97426	2.873000	0.98535	0.561000	0.74099	CCA		0.353	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		5	146	1	0	0.217242	1	0.217242	5	146				
FNDC1	84624	broad.mit.edu	37	6	159654416	159654416	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr6:159654416G>A	ENST00000297267.9	+	11	3072	c.2872G>A	c.(2872-2874)Gcg>Acg	p.A958T	FNDC1_ENST00000340366.6_Missense_Mutation_p.A895T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	958					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GAGCACAGACGCGGACACGGA	0.622																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(2872-2874)Gcg>Acg		fibronectin type III domain containing 1							53.0	64.0	60.0					6																	159654416		2175	4262	6437	SO:0001583	missense	84624					extracellular region		g.chr6:159654416G>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2872G>A	6.37:g.159654416G>A	ENSP00000297267:p.Ala958Thr					FNDC1_ENST00000340366.6_Missense_Mutation_p.A895T	p.A958T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	3072	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	958					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.2872G>A	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.465|9.465	1.093995|1.093995	0.20471|0.20471	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.07800|.	3.16;4.0|.	4.26|4.26	-0.353|-0.353	0.12594|0.12594	.|.	2.304150|.	0.01786|.	N|.	0.032055|.	T|T	0.06416|0.06416	0.0165|0.0165	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B|.	0.19935|.	0.04;0.024|.	B;B|.	0.11329|.	0.006;0.001|.	T|T	0.35871|0.35871	-0.9771|-0.9771	10|5	0.13108|.	T|.	0.6|.	0.0272|0.0272	1.513|1.513	0.02500|0.02500	0.118:0.1857:0.3177:0.3786|0.118:0.1857:0.3177:0.3786	.|.	895;958|.	Q4ZHG4-2;Q4ZHG4|.	.;FNDC1_HUMAN|.	T|H	958;895|853	ENSP00000297267:A958T;ENSP00000342460:A895T|.	ENSP00000297267:A958T|.	A|R	+|+	1|2	0|0	FNDC1|FNDC1	159574406|159574406	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.233000|0.233000	0.25261|0.25261	0.040000|0.040000	0.13905|0.13905	0.042000|0.042000	0.15717|0.15717	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.622	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		4	27	0	0	0	1	0	4	27				
KIF1A	547	broad.mit.edu	37	2	241658482	241658482	+	Missense_Mutation	SNP	C	C	T	rs200511467		TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:241658482C>T	ENST00000320389.7	-	45	5010	c.4852G>A	c.(4852-4854)Gtg>Atg	p.V1618M	KIF1A_ENST00000498729.2_Missense_Mutation_p.V1719M	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1618	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		AGGTTGAGCACGAACCGCTCC	0.662																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(5155-5157)Gtg>Atg		kinesin family member 1A		C	MET/VAL	1,4351	2.1+/-5.4	0,1,2175	84.0	95.0	91.0		4852	1.7	0.9	2		91	0,8580		0,0,4290	yes	missense	KIF1A	NM_004321.5	21	0,1,6465	TT,TC,CC		0.0,0.023,0.0077	possibly-damaging	1618/1691	241658482	1,12931	2176	4290	6466	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241658482C>T	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.4852G>A	2.37:g.241658482C>T	ENSP00000322791:p.Val1618Met					KIF1A_ENST00000320389.7_Missense_Mutation_p.V1618M	p.V1719M	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	47	5401	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	1618					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.5155G>A	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.262076	0.39995	2.3E-4	0.0	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308	T;T	0.75938	-0.98;-0.98	4.05	1.72	0.24424	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.133468	0.46758	U	0.000275	T	0.68742	0.3034	L	0.50333	1.59	0.33325	D	0.567899	P;P	0.49447	0.924;0.879	B;P	0.49252	0.337;0.604	T	0.73190	-0.4061	10	0.72032	D	0.01	.	3.4744	0.07579	0.0:0.4592:0.2396:0.3012	.	1719;1618	F5H045;Q12756	.;KIF1A_HUMAN	M	1618;1719;1727	ENSP00000322791:V1618M;ENSP00000438388:V1719M	ENSP00000322791:V1618M	V	-	1	0	KIF1A	241307155	1.000000	0.71417	0.904000	0.35570	0.851000	0.48451	1.578000	0.36525	0.653000	0.30826	0.460000	0.39030	GTG		0.662	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		4	100	0	0	0	1	0	4	100				
SEPT7	989	broad.mit.edu	37	7	35913345	35913345	+	Missense_Mutation	SNP	G	G	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr7:35913345G>T	ENST00000435235.1	+	5	745	c.313G>T	c.(313-315)Gtg>Ttg	p.V105L	SEPT7_ENST00000475109.1_3'UTR|SEPT7_ENST00000399035.3_Missense_Mutation_p.V157L|SEPT7_ENST00000350320.6_Missense_Mutation_p.V157L|SEPT7_ENST00000494488.2_Missense_Mutation_p.V144L|SEPT7_ENST00000469679.2_Missense_Mutation_p.V157L|SEPT7_ENST00000399034.2_Missense_Mutation_p.V159L			Q16181	SEPT7_HUMAN	septin 7	158	Septin-type G.				cilium morphogenesis (GO:0060271)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein heterooligomerization (GO:0051291)|regulation of embryonic cell shape (GO:0016476)	actin cytoskeleton (GO:0015629)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|septin complex (GO:0031105)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						TGATAACAGGGTGCAGTGTTG	0.408																																						ENST00000494488.2																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						c.(430-432)Gtg>Ttg		septin 7							103.0	93.0	96.0					7																	35913345		1913	4124	6037	SO:0001583	missense	989				cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity	g.chr7:35913345G>T	S72008	CCDS75582.1	7p14.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000122545	ENSG00000122545		"""Septins"""	1717	protein-coding gene	gene with protein product		603151	"""CDC10 cell division cycle 10 homolog (S. cerevisiae)"""	CDC10		8037772	Standard	NM_001788		Approved	CDC3, SEPT7A	uc011kau.2	Q16181	OTTHUMG00000155063	ENST00000435235.1:c.313G>T	7.37:g.35913345G>T	ENSP00000413507:p.Val105Leu					SEPT7_ENST00000350320.6_Missense_Mutation_p.V157L|SEPT7_ENST00000435235.1_Missense_Mutation_p.V105L|SEPT7_ENST00000469679.2_Missense_Mutation_p.V157L|SEPT7_ENST00000399035.3_Missense_Mutation_p.V157L|SEPT7_ENST00000399034.2_Missense_Mutation_p.V159L|SEPT7_ENST00000475109.1_3'UTR	p.V144L			Q16181	SEPT7_HUMAN			5	430	+			158					Q52M76|Q6NX50	Missense_Mutation	SNP	ENST00000435235.1	37	c.430G>T		.	.	.	.	.	.	.	.	.	.	G	22.7	4.326667	0.81690	.	.	ENSG00000122545	ENST00000435235;ENST00000399034;ENST00000350320;ENST00000469679;ENST00000399035;ENST00000537785;ENST00000493670;ENST00000494488	T;T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16;0.16	5.09	5.09	0.68999	.	0.161696	0.40222	U	0.001142	T	0.71576	0.3356	M	0.89214	3.015	0.80722	D	1	B;B;B	0.30179	0.271;0.214;0.214	B;B;B	0.38712	0.247;0.174;0.28	T	0.75969	-0.3130	10	0.87932	D	0	.	18.918	0.92513	0.0:0.0:1.0:0.0	.	103;157;158	B4DNE4;E7EPK1;Q16181	.;.;SEPT7_HUMAN	L	105;159;157;157;157;103;105;144	ENSP00000413507:V105L;ENSP00000381992:V159L;ENSP00000344868:V157L;ENSP00000444501:V157L;ENSP00000381993:V157L;ENSP00000438395:V144L	ENSP00000344868:V157L	V	+	1	0	SEPT7	35879870	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.596000	0.82721	2.557000	0.86248	0.644000	0.83932	GTG		0.408	SEPT7-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000338285.1	NM_001788		5	158	1	0	0.000602214	1	0.000688245	5	158				
TRBV7-4	28594	broad.mit.edu	37	7	142176782	142176782	+	RNA	SNP	G	G	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr7:142176782G>T	ENST00000390369.2	-	0	8									T cell receptor beta variable 7-4 (gene/pseudogene)																		AGAGGAGCCTGGTGCCCATGG	0.552																																						ENST00000390369.2																			0																				83.0	86.0	85.0					7																	142176782		1943	4129	6072			0							g.chr7:142176782G>T	L36092		7q34	2012-02-07	2008-09-12		ENSG00000253409	ENSG00000253409		"""T cell receptors / TRB locus"""	12238	other	T cell receptor gene			"""T cell receptor beta variable 7-4"""			8650574	Standard	NG_001333		Approved	TRBV74, TCRBV6S8A2T, TCRBV7S4			OTTHUMG00000158508		7.37:g.142176782G>T														0	8	-									RNA	SNP	ENST00000390369.2	37																																																																																						0.552	TRBV7-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351214.2	NG_001333		4	87	1	0	0.00116845	1	0.00128932	4	87				
OR52E2	119678	broad.mit.edu	37	11	5080816	5080816	+	Silent	SNP	G	G	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr11:5080816G>A	ENST00000321522.2	-	1	41	c.42C>T	c.(40-42)ttC>ttT	p.F14F		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCAGCAACAGGAAGGAGGAGG	0.483																																						ENST00000321522.2																			0				endometrium(2)|lung(13)|ovary(2)|skin(3)	20						c.(40-42)ttC>ttT		olfactory receptor, family 52, subfamily E, member 2							89.0	83.0	85.0					11																	5080816		2201	4298	6499	SO:0001819	synonymous_variant	119678				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5080816G>A	AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"""GPCR / Class A : Olfactory receptors"""	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.42C>T	11.37:g.5080816G>A							p.F14F	NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)	1	41	-		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	14						Silent	SNP	ENST00000321522.2	37	c.42C>T	CCDS31371.1																																																																																				0.483	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164		4	44	0	0	0	1	0	4	44				
PROKR1	10887	broad.mit.edu	37	2	68882445	68882445	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:68882445C>T	ENST00000303786.3	+	3	1339	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C	PROKR1_ENST00000394342.2_Missense_Mutation_p.R307C			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	307					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CACCATCGTGCGCGACTTCTT	0.577																																						ENST00000303786.3																			0				endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(919-921)Cgc>Tgc		prokineticin receptor 1							151.0	112.0	125.0					2																	68882445		2203	4300	6503	SO:0001583	missense	10887					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr2:68882445C>T	AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"""GPCR / Class A : Prokineticin receptors"""	4524	protein-coding gene	gene with protein product		607122	"""G protein-coupled receptor 73"""	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.919C>T	2.37:g.68882445C>T	ENSP00000303775:p.Arg307Cys					PROKR1_ENST00000394342.2_Missense_Mutation_p.R307C	p.R307C			Q8TCW9	PKR1_HUMAN			3	1339	+			307					A5JUU2|Q53QT9|Q8NFJ7	Missense_Mutation	SNP	ENST00000303786.3	37	c.919C>T	CCDS1889.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.768018	0.90020	.	.	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.72942	-0.7;-0.7	4.68	4.68	0.58851	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.82861	0.5129	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81393	-0.0953	10	0.38643	T	0.18	.	15.9178	0.79535	0.0:1.0:0.0:0.0	.	307	Q8TCW9	PKR1_HUMAN	C	307	ENSP00000303775:R307C;ENSP00000377874:R307C	ENSP00000303775:R307C	R	+	1	0	PROKR1	68735949	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.627000	0.67784	2.884000	0.98904	0.655000	0.94253	CGC		0.577	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2			10	56	0	0	0	1	0	10	56				
LY75	4065	broad.mit.edu	37	2	160665083	160665083	+	Splice_Site	SNP	C	C	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:160665083C>A	ENST00000263636.4	-	33	4727		c.e33-1		LY75_ENST00000554112.1_Splice_Site|LY75-CD302_ENST00000504764.1_Splice_Site|LY75_ENST00000553424.1_Splice_Site|LY75-CD302_ENST00000505052.1_Splice_Site	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75						endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GCAGAGTGATCTGTTGAAAGA	0.313																																						ENST00000263636.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.e33-1		lymphocyte antigen 75							130.0	126.0	127.0					2																	160665083		2203	4299	6502	SO:0001630	splice_region_variant	4065							g.chr2:160665083C>A	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.4700-1G>T	2.37:g.160665083C>A						LY75-CD302_ENST00000505052.1_Splice_Site|LY75-CD302_ENST00000504764.1_Splice_Site|LY75_ENST00000553424.1_Splice_Site|LY75_ENST00000554112.1_Splice_Site		NM_002349.3	NP_002340.2				COAD - Colon adenocarcinoma(177;0.132)	33	4727	-								O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Splice_Site	SNP	ENST00000263636.4	37		CCDS2211.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.769978	0.31320	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0954	0.93248	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LY75;LY75-CD302	160373329	1.000000	0.71417	1.000000	0.80357	0.057000	0.15508	5.165000	0.64959	2.606000	0.88127	0.491000	0.48974	.		0.313	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1		Intron	10	39	1	0	6.42651e-13	1	8.22594e-13	10	39				
FBXO42	54455	broad.mit.edu	37	1	16641764	16641764	+	Silent	SNP	C	C	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr1:16641764C>A	ENST00000375592.3	-	2	366	c.150G>T	c.(148-150)ctG>ctT	p.L50L	FBXO42_ENST00000478089.1_5'UTR	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	50	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.									autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		CCTCTTCTGGCAGCTCCGACA	0.488																																						ENST00000375592.3																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(148-150)ctG>ctT		F-box protein 42							127.0	109.0	115.0					1																	16641764		2203	4300	6503	SO:0001819	synonymous_variant	54455							g.chr1:16641764C>A	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"""F-boxes /  ""other"""""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.150G>T	1.37:g.16641764C>A						FBXO42_ENST00000478089.1_5'UTR	p.L50L	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)	2	366	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	50			F-box.		B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Silent	SNP	ENST00000375592.3	37	c.150G>T	CCDS30613.1																																																																																				0.488	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1			9	69	1	0	0.0581538	1	0.0610138	9	69				
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429		TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657																																						ENST00000391413.2																			1	Substitution - Missense(1)	p.L161V(1)	prostate(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(481-483)Ctg>Gtg		keratin associated protein 4-11							17.0	21.0	20.0					17																	39274087		692	1589	2281	SO:0001583	missense	653240					keratin filament		g.chr17:39274087G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.481C>G	17.37:g.39274087G>C	ENSP00000375232:p.Leu161Val						p.L161V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	519	-		Breast(137;0.000496)	161			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.481C>G	CCDS45675.1	249	0.11401098901098901	67	0.13617886178861788	40	0.11049723756906077	104	0.18181818181818182	38	0.05013192612137203	.	1.347	-0.592411	0.03799	.	.	ENSG00000212721	ENST00000391413	T	0.00614	6.21	4.35	0.986	0.19784	.	.	.	.	.	T	0.00012	0.0000	L	0.31752	0.955	0.80722	P	0.0	B	0.30068	0.267	B	0.18871	0.023	T	0.19063	-1.0317	8	0.11794	T	0.64	.	5.8913	0.18915	0.1751:0.0:0.6569:0.168	.	161	Q9BYQ6	KR411_HUMAN	V	161	ENSP00000375232:L161V	ENSP00000375232:L161V	L	-	1	2	KRTAP4-11	36527613	0.671000	0.27521	0.912000	0.35992	0.970000	0.65996	0.971000	0.29396	0.348000	0.23949	0.609000	0.83330	CTG		0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			4	16	0	0	0	1	0	4	16				
FILIP1	27145	broad.mit.edu	37	6	76022612	76022612	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr6:76022612G>A	ENST00000237172.7	-	5	3266	c.2936C>T	c.(2935-2937)tCc>tTc	p.S979F	FILIP1_ENST00000393004.2_Missense_Mutation_p.S979F|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.S880F	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	979										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TGTGACTGGGGACATGGCTCG	0.448																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(2935-2937)tCc>tTc		filamin A interacting protein 1							94.0	91.0	92.0					6																	76022612		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76022612G>A	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2936C>T	6.37:g.76022612G>A	ENSP00000237172:p.Ser979Phe					FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.S979F|FILIP1_ENST00000370020.1_Missense_Mutation_p.S880F	p.S979F			Q7Z7B0	FLIP1_HUMAN			5	3157	-			979					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.2936C>T	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.793995	0.90453	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.34472	1.37;1.36;1.37	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.55130	0.1901	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.997;0.993;0.997	T	0.54443	-0.8293	10	0.87932	D	0	-12.046	20.5568	0.99304	0.0:0.0:1.0:0.0	.	979;979;979	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	F	979;979;880	ENSP00000376728:S979F;ENSP00000237172:S979F;ENSP00000359037:S880F	ENSP00000237172:S979F	S	-	2	0	FILIP1	76079332	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.807000	0.99171	2.861000	0.98227	0.655000	0.94253	TCC		0.448	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		8	171	0	0	0	1	0	8	171				
APOA4	337	broad.mit.edu	37	11	116692051	116692051	+	Silent	SNP	C	C	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr11:116692051C>T	ENST00000357780.3	-	3	837	c.723G>A	c.(721-723)ctG>ctA	p.L241L		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	241	13 X 22 AA approximate tandem repeats.				cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TCTGGAAGGTCAGGCCCTCAA	0.632																																						ENST00000357780.3																			0				cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(721-723)ctG>ctA		apolipoprotein A-IV							92.0	95.0	94.0					11																	116692051		2201	4292	6493	SO:0001819	synonymous_variant	337							g.chr11:116692051C>T		CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"""Apolipoproteins"""	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.723G>A	11.37:g.116692051C>T							p.L241L	NM_000482.3	NP_000473.2				BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	3	837	-	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)						A8MSL6|Q14CW8|Q6Q787	Silent	SNP	ENST00000357780.3	37	c.723G>A	CCDS31681.1																																																																																				0.632	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106279.2	NM_000482		21	133	0	0	0	1	0	21	133				
MRPL13	28998	broad.mit.edu	37	8	121426335	121426335	+	Missense_Mutation	SNP	A	A	C	rs375407917		TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr8:121426335A>C	ENST00000306185.3	-	6	701	c.410T>G	c.(409-411)aTt>aGt	p.I137S		NM_014078.5	NP_054797.2	Q9BYD1	RM13_HUMAN	mitochondrial ribosomal protein L13	137					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			ATTCTTAAGAATATCTTCTGG	0.289																																						ENST00000306185.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6						c.(409-411)aTt>aGt		mitochondrial ribosomal protein L13							81.0	77.0	79.0					8																	121426335		2203	4300	6503	SO:0001583	missense	28998				translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome	g.chr8:121426335A>C	AB049640	CCDS6332.1	8q22.1-q22.3	2012-09-13			ENSG00000172172	ENSG00000172172		"""Mitochondrial ribosomal proteins / large subunits"""	14278	protein-coding gene	gene with protein product		610200				11543634	Standard	NM_014078		Approved	L13, RPL13, L13mt, RPML13, L13A	uc003ypa.3	Q9BYD1	OTTHUMG00000165039	ENST00000306185.3:c.410T>G	8.37:g.121426335A>C	ENSP00000306548:p.Ile137Ser						p.I137S	NM_014078.5	NP_054797.2	Q9BYD1	RM13_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		6	701	-	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		137					B2R4R8|Q9UI04	Missense_Mutation	SNP	ENST00000306185.3	37	c.410T>G	CCDS6332.1	.	.	.	.	.	.	.	.	.	.	A	17.00	3.277916	0.59758	.	.	ENSG00000172172	ENST00000306185;ENST00000518918	.	.	.	5.74	5.74	0.90152	Ribosomal protein L13 domain (2);	0.147492	0.64402	D	0.000010	T	0.67011	0.2848	L	0.44542	1.39	0.80722	D	1	P	0.45396	0.857	P	0.60068	0.868	T	0.68413	-0.5415	9	0.62326	D	0.03	0.0055	13.8503	0.63492	1.0:0.0:0.0:0.0	.	137	Q9BYD1	RM13_HUMAN	S	137;113	.	ENSP00000306548:I137S	I	-	2	0	MRPL13	121495516	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.058000	0.89460	2.317000	0.78254	0.459000	0.35465	ATT		0.289	MRPL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381523.1	NM_014078		8	23	0	0	0	1	0	8	23				
ARHGEF1	9138	broad.mit.edu	37	19	42396405	42396405	+	Missense_Mutation	SNP	C	C	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr19:42396405C>A	ENST00000354532.3	+	6	476	c.328C>A	c.(328-330)Ctc>Atc	p.L110I	ARHGEF1_ENST00000347545.4_Missense_Mutation_p.L77I|ARHGEF1_ENST00000599846.1_Missense_Mutation_p.L110I|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.L125I|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.L92I|ARHGEF1_ENST00000596957.1_3'UTR	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	110	RGSL.				cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		TGAGCAGGTTCTCCGGGTGCC	0.612																																						ENST00000599846.1																			0				breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(328-330)Ctc>Atc		Rho guanine nucleotide exchange factor (GEF) 1							136.0	126.0	130.0					19																	42396405		2203	4300	6503	SO:0001583	missense	0				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42396405C>A	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.328C>A	19.37:g.42396405C>A	ENSP00000346532:p.Leu110Ile					ARHGEF1_ENST00000347545.4_Missense_Mutation_p.L77I|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.L92I|ARHGEF1_ENST00000596957.1_3'UTR|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.L110I|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.L125I	p.L110I			Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	6	453	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	110			RGSL.		O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	37	c.328C>A	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567821	0.65651	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000316079;ENST00000337665;ENST00000378152	D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02	4.04	3.0	0.34707	Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.100598	0.41001	D	0.000973	D	0.90741	0.7094	M	0.76838	2.35	0.39536	D	0.968744	D;D;D;D;D	0.89917	0.999;0.997;0.998;1.0;0.998	D;D;D;D;D	0.91635	0.998;0.999;0.99;0.999;0.999	D	0.91086	0.4903	10	0.87932	D	0	-6.3048	9.7205	0.40300	0.0:0.8953:0.0:0.1047	.	92;125;77;110;170	Q6NX52;Q92888-3;Q92888-2;Q92888;Q8NF33	.;.;.;ARHG1_HUMAN;.	I	110;77;146;125;92	ENSP00000346532:L110I;ENSP00000344429:L77I;ENSP00000337261:L125I;ENSP00000367394:L92I	ENSP00000323044:L146I	L	+	1	0	ARHGEF1	47088245	0.861000	0.29849	0.938000	0.37757	0.772000	0.43724	2.134000	0.42102	1.070000	0.40811	0.306000	0.20318	CTC		0.612	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		5	134	1	0	0.00116845	1	0.00128932	5	134				
ZNF830	91603	broad.mit.edu	37	17	33289179	33289179	+	Silent	SNP	G	G	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr17:33289179G>T	ENST00000361952.3	+	1	631	c.594G>T	c.(592-594)cgG>cgT	p.R198R	CCT6B_ENST00000421975.3_5'Flank|CCT6B_ENST00000314144.5_5'Flank|CCT6B_ENST00000436961.3_5'Flank	NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	198					blastocyst growth (GO:0001832)|mitotic nuclear division (GO:0007067)|nuclear cell cycle DNA replication (GO:0033260)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				CCTCTTCACGGGAGGTAACAA	0.507																																						ENST00000361952.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(592-594)cgG>cgT		zinc finger protein 830							66.0	61.0	62.0					17																	33289179		2203	4300	6503	SO:0001819	synonymous_variant	91603				cell division|mitosis	cytoplasm|nucleus	metal ion binding	g.chr17:33289179G>T	AK055707	CCDS32618.1	17q12	2013-10-23	2008-03-25	2008-03-25	ENSG00000198783	ENSG00000198783			28291	protein-coding gene	gene with protein product	"""orphan maintenance of genome 1"""		"""coiled-coil domain containing 16"""	CCDC16		23066043	Standard	NM_052857		Approved	MGC20398, OMCG1	uc002hih.4	Q96NB3	OTTHUMG00000179771	ENST00000361952.3:c.594G>T	17.37:g.33289179G>T							p.R198R	NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN			1	631	+		Ovarian(249;0.17)	198					Q96F60|Q96GZ5|Q9BU38	Silent	SNP	ENST00000361952.3	37	c.594G>T	CCDS32618.1																																																																																				0.507	ZNF830-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448018.1	NM_052857		3	36	1	0	0.115264	1	0.118982	3	36				
HUWE1	10075	broad.mit.edu	37	X	53563401	53563401	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chrX:53563401C>T	ENST00000342160.3	-	78	12822	c.12365G>A	c.(12364-12366)cGt>cAt	p.R4122H	HUWE1_ENST00000262854.6_Missense_Mutation_p.R4122H			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4122	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.R4012H(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTCCAGAAGACGGTTGTCATA	0.493																																						ENST00000342160.3																			1	Substitution - Missense(1)	p.R4012H(1)	upper_aerodigestive_tract(1)	NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(12364-12366)cGt>cAt		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							197.0	169.0	179.0					X																	53563401		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53563401C>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.12365G>A	X.37:g.53563401C>T	ENSP00000340648:p.Arg4122His					HUWE1_ENST00000262854.6_Missense_Mutation_p.R4122H	p.R4122H			Q7Z6Z7	HUWE1_HUMAN			78	12822	-			4122			HECT.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.12365G>A	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.029916	0.54790	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.58940	0.3;0.3	5.62	5.62	0.85841	HECT (4);	0.000000	0.85682	D	0.000000	T	0.67050	0.2852	L	0.31420	0.93	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72625	0.976;0.978	T	0.70389	-0.4885	10	0.87932	D	0	.	17.5681	0.87926	0.0:1.0:0.0:0.0	.	4122;4106	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	H	4122	ENSP00000340648:R4122H;ENSP00000262854:R4122H	ENSP00000262854:R4122H	R	-	2	0	HUWE1	53580126	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	7.232000	0.78116	2.506000	0.84524	0.594000	0.82650	CGT		0.493	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		13	48	0	0	0	1	0	13	48				
POM121	9883	broad.mit.edu	37	7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	rs147859349		TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr7:72398976A>G	ENST00000434423.2	+	4	1076	c.1076A>G	c.(1075-1077)aAt>aGt	p.N359S	POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000395270.1_Missense_Mutation_p.N94S			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468													.|||	1	0.000199681	0.0008	0.0	5008	,	,		16715	0.0		0.0	False		,,,				2504	0.0					ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(280-282)aAt>aGt		POM121 transmembrane nucleoporin							189.0	188.0	188.0					7																	72398976		2203	4300	6503	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72398976A>G	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.1076A>G	7.37:g.72398976A>G	ENSP00000405562:p.Asn359Ser					POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S	p.N94S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			7	1322	+		Lung NSC(55;0.163)	359			Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.281A>G		.	.	.	.	.	.	.	.	.	.	G	12.65	2.002131	0.35320	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52	3.99	3.99	0.46301	.	0.154071	0.30020	N	0.010614	T	0.13457	0.0326	L	0.57536	1.79	0.32153	N	0.584002	B;B	0.31193	0.312;0.006	B;B	0.26202	0.067;0.053	T	0.08066	-1.0740	10	0.30078	T	0.28	.	10.8045	0.46509	1.0:0.0:0.0:0.0	.	94;359	A8MXF9;Q96HA1	.;P121A_HUMAN	S	94;94;94;94;359	ENSP00000393020:N94S;ENSP00000257622:N94S;ENSP00000378687:N94S;ENSP00000351124:N94S;ENSP00000405562:N359S	ENSP00000257622:N94S	N	+	2	0	POM121	72036912	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	5.143000	0.64826	1.663000	0.50791	0.373000	0.22412	AAT		0.468	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			7	208	0	0	0	1	0	7	208				
MUC16	94025	broad.mit.edu	37	19	9006353	9006353	+	Missense_Mutation	SNP	G	G	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr19:9006353G>T	ENST00000397910.4	-	45	39868	c.39665C>A	c.(39664-39666)aCc>aAc	p.T13222N	MUC16_ENST00000380951.5_5'Flank	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13224	SEA 8. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCTGAGCAAGGTCAGTCTGCA	0.502																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(39664-39666)aCc>aAc		mucin 16, cell surface associated							102.0	82.0	89.0					19																	9006353		1994	4168	6162	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9006353G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39665C>A	19.37:g.9006353G>T	ENSP00000381008:p.Thr13222Asn						p.T13222N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			45	39868	-			13224			SEA 8.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.39665C>A	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	11.73|11.73	1.726674|1.726674	0.30593|0.30593	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000441155	.|T	.|0.33654	.|1.4	2.85|2.85	-2.75|-2.75	0.05914|0.05914	.|SEA (1);	.|.	.|.	.|.	.|.	T|T	0.30293|0.30293	0.0760|0.0760	N|N	0.14661|0.14661	0.345|0.345	.|.	.|.	.|.	.|D;P	.|0.55172	.|0.97;0.908	.|P;P	.|0.61397	.|0.5;0.888	T|T	0.32188|0.32188	-0.9916|-0.9916	4|8	.|0.87932	.|D	.|0	-2.9317|-2.9317	2.6564|2.6564	0.05013|0.05013	0.2498:0.0:0.3639:0.3862|0.2498:0.0:0.3639:0.3862	.|.	.|20867;13222	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	T|N	62|13222;353	.|ENSP00000381008:T13222N	.|ENSP00000381008:T13222N	P|T	-|-	1|2	0|0	MUC16|MUC16	8867353|8867353	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.005000|0.005000	0.04900|0.04900	-0.270000|-0.270000	0.08584|0.08584	-0.446000|-0.446000	0.07149|0.07149	0.455000|0.455000	0.32223|0.32223	CCT|ACC		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	122	1	0	0.150653	1	0.153045	4	122				
MUC16	94025	broad.mit.edu	37	19	9006392	9006392	+	Missense_Mutation	SNP	C	C	T	rs201544283		TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr19:9006392C>T	ENST00000397910.4	-	45	39829	c.39626G>A	c.(39625-39627)aGc>aAc	p.S13209N	MUC16_ENST00000380951.5_5'Flank	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13211	SEA 8. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AACACTGGTGCTCTTGAACAA	0.562																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(39625-39627)aGc>aAc		mucin 16, cell surface associated							102.0	85.0	91.0					19																	9006392		2027	4192	6219	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9006392C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39626G>A	19.37:g.9006392C>T	ENSP00000381008:p.Ser13209Asn						p.S13209N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			45	39829	-			13211			SEA 8.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.39626G>A	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.006|0.006	-2.043467|-2.043467	0.00398|0.00398	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000441155	.|T	.|0.29397	.|1.57	2.85|2.85	-3.69|-3.69	0.04450|0.04450	.|SEA (1);	.|.	.|.	.|.	.|.	T|T	0.44371|0.44371	0.1290|0.1290	.|.	.|.	.|.	.|.	.|.	.|.	.|B;P	.|0.39044	.|0.0;0.656	.|B;P	.|0.54759	.|0.001;0.76	T|T	0.56763|0.56763	-0.7925|-0.7925	3|7	.|0.87932	.|D	.|0	-2.947|-2.947	10.1049|10.1049	0.42528|0.42528	0.0:0.5653:0.0:0.4347|0.0:0.5653:0.0:0.4347	.|.	.|20854;13209	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	T|N	49|13209;340	.|ENSP00000381008:S13209N	.|ENSP00000381008:S13209N	A|S	-|-	1|2	0|0	MUC16|MUC16	8867392|8867392	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.863000|-0.863000	0.04259|0.04259	-1.669000|-1.669000	0.01470|0.01470	-2.594000|-2.594000	0.00164|0.00164	GCA|AGC		0.562	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	116	0	0	0	1	0	4	116				
NIPSNAP3B	55335	broad.mit.edu	37	9	107528754	107528754	+	Missense_Mutation	SNP	T	T	C			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr9:107528754T>C	ENST00000374762.3	+	2	280	c.209T>C	c.(208-210)gTt>gCt	p.V70A	NIPSNAP3B_ENST00000461177.1_Intron	NM_018376.2	NP_060846.2	Q9BS92	NPS3B_HUMAN	nipsnap homolog 3B (C. elegans)	70										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						TCTGAATTGGTTGGATTCTGG	0.328																																						ENST00000374762.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						c.(208-210)gTt>gCt		nipsnap homolog 3B (C. elegans)							160.0	165.0	163.0					9																	107528754		2203	4300	6503	SO:0001583	missense	55335							g.chr9:107528754T>C	BC017914	CCDS6761.1	9q31.3	2003-11-27			ENSG00000165028	ENSG00000165028			23641	protein-coding gene	gene with protein product		608872				12477932	Standard	NM_018376		Approved	FLJ11275	uc004bci.3	Q9BS92	OTTHUMG00000020414	ENST00000374762.3:c.209T>C	9.37:g.107528754T>C	ENSP00000363894:p.Val70Ala					NIPSNAP3B_ENST00000461177.1_Intron	p.V70A	NM_018376.2	NP_060846.2	Q9BS92	NPS3B_HUMAN			2	280	+			70					Q5VX30|Q9NUM2	Missense_Mutation	SNP	ENST00000374762.3	37	c.209T>C	CCDS6761.1	.	.	.	.	.	.	.	.	.	.	T	19.78	3.890332	0.72524	.	.	ENSG00000165028	ENST00000374762	T	0.57595	0.39	3.93	2.79	0.32731	Dimeric alpha-beta barrel (1);	0.125962	0.53938	D	0.000056	T	0.59307	0.2184	M	0.74389	2.26	0.35897	D	0.830078	P	0.49783	0.928	P	0.51657	0.676	T	0.67264	-0.5714	10	0.54805	T	0.06	0.8093	8.1805	0.31307	0.0:0.1:0.0:0.9	.	70	Q9BS92	NPS3B_HUMAN	A	70	ENSP00000363894:V70A	ENSP00000363894:V70A	V	+	2	0	NIPSNAP3B	106568575	1.000000	0.71417	0.931000	0.37212	0.972000	0.66771	4.157000	0.58144	0.670000	0.31165	0.528000	0.53228	GTT		0.328	NIPSNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053486.1	NM_018376		10	111	0	0	0	1	0	10	111				
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529		TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677																																						ENST00000333822.4																			4	Substitution - Missense(4)	p.C95S(4)	endometrium(3)|kidney(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						c.(283-285)Tgc>Agc		keratin associated protein 4-8							7.0	11.0	10.0					17																	39254054		685	1582	2267	SO:0001583	missense	728224					keratin filament		g.chr17:39254054A>T	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.283T>A	17.37:g.39254054A>T	ENSP00000328444:p.Cys95Ser						p.C95S	NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN			1	339	-			95			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.283T>A	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.755714	0.49362	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.02280	4.36	3.11	2.01	0.26516	.	0.000000	0.52532	U	0.000067	T	0.04497	0.0123	M	0.83223	2.63	0.25182	N	0.99019	B	0.21606	0.058	B	0.27887	0.084	T	0.21793	-1.0235	10	0.54805	T	0.06	.	6.3859	0.21559	0.8715:0.0:0.1285:0.0	.	95	Q9BYQ9	KRA48_HUMAN	S	95;80	ENSP00000328444:C95S	ENSP00000414561:C80S	C	-	1	0	KRTAP4-8	36507580	0.999000	0.42202	0.393000	0.26258	0.649000	0.38597	3.122000	0.50446	0.404000	0.25506	0.374000	0.22700	TGC		0.677	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		5	50	0	0	0	1	0	5	50				
MAP3K1	4214	broad.mit.edu	37	5	56160643	56160643	+	Missense_Mutation	SNP	G	G	A	rs375262853		TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr5:56160643G>A	ENST00000399503.3	+	4	917	c.917G>A	c.(916-918)cGc>cAc	p.R306H	AC008937.2_ENST00000415589.1_RNA	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	306					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.R143H(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GAAACAAACCGCCGTGTTAAC	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		13872	0.001		0.0	False		,,,				2504	0.0					ENST00000399503.3																			1	Substitution - Missense(1)	p.R143H(1)	large_intestine(1)	NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(916-918)cGc>cAc		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase							89.0	91.0	90.0					5																	56160643		1900	4105	6005	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56160643G>A	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.917G>A	5.37:g.56160643G>A	ENSP00000382423:p.Arg306His						p.R306H	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	4	917	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	306						Missense_Mutation	SNP	ENST00000399503.3	37	c.917G>A	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556833	0.86231	.	.	ENSG00000095015	ENST00000399503	T	0.69806	-0.43	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.77585	0.4152	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.78476	-0.2189	10	0.87932	D	0	.	20.0401	0.97581	0.0:0.0:1.0:0.0	.	306	Q13233	M3K1_HUMAN	H	306	ENSP00000382423:R306H	ENSP00000382423:R306H	R	+	2	0	MAP3K1	56196400	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	8.498000	0.90492	2.805000	0.96524	0.655000	0.94253	CGC		0.488	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		7	58	0	0	0	1	0	7	58				
PKNOX1	5316	broad.mit.edu	37	21	44433202	44433202	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr21:44433202C>T	ENST00000291547.5	+	5	587	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C	PKNOX1_ENST00000432907.2_Missense_Mutation_p.R9C	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	126			R -> H (in dbSNP:rs9976017).		angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						CCAGGTTTTGCGCATTCATCT	0.373																																						ENST00000291547.5																			0				cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						c.(376-378)Cgc>Tgc		PBX/knotted 1 homeobox 1							139.0	135.0	136.0					21																	44433202		2203	4300	6503	SO:0001583	missense	5316						sequence-specific DNA binding	g.chr21:44433202C>T		CCDS13692.1, CCDS68211.1	21q22.3	2011-06-20			ENSG00000160199	ENSG00000160199		"""Homeoboxes / TALE class"""	9022	protein-coding gene	gene with protein product		602100				9479508	Standard	NM_001286258		Approved	PREP1	uc002zcq.1	P55347	OTTHUMG00000086833	ENST00000291547.5:c.376C>T	21.37:g.44433202C>T	ENSP00000291547:p.Arg126Cys					PKNOX1_ENST00000432907.2_Missense_Mutation_p.R9C	p.R126C	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN			5	587	+			126		R -> H (in dbSNP:rs9976017).			O00528|Q8IWT7	Missense_Mutation	SNP	ENST00000291547.5	37	c.376C>T	CCDS13692.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449830	0.84101	.	.	ENSG00000160199	ENST00000291547;ENST00000432907	T;T	0.35973	1.28;1.28	5.58	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.64757	0.2627	M	0.86178	2.8	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.997	T	0.72304	-0.4333	10	0.87932	D	0	-0.796	15.6835	0.77391	0.138:0.862:0.0:0.0	.	126;126;126	Q5DNB2;P55347;P55347-2	.;PKNX1_HUMAN;.	C	126;9	ENSP00000291547:R126C;ENSP00000402243:R9C	ENSP00000291547:R126C	R	+	1	0	PKNOX1	43306271	1.000000	0.71417	0.935000	0.37517	0.996000	0.88848	5.570000	0.67398	1.314000	0.45095	0.561000	0.74099	CGC		0.373	PKNOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195520.3			7	107	0	0	0	1	0	7	107				
PGLYRP2	114770	broad.mit.edu	37	19	15587012	15587012	+	Missense_Mutation	SNP	C	C	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr19:15587012C>A	ENST00000340880.4	-	2	949	c.469G>T	c.(469-471)Gat>Tat	p.D157Y	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.D157Y	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	157					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GCCACAACATCTGGAAAGGTA	0.582																																						ENST00000292609.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						c.(469-471)Gat>Tat		peptidoglycan recognition protein 2							80.0	75.0	77.0					19																	15587012		2203	4300	6503	SO:0001583	missense	114770				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:15587012C>A	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein L precursor"", ""peptidoglycan recognition protein-like"", ""N-acetylmuramoyl-L-alanine amidase"""	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.469G>T	19.37:g.15587012C>A	ENSP00000345968:p.Asp157Tyr					PGLYRP2_ENST00000340880.4_Missense_Mutation_p.D157Y	p.D157Y			Q96PD5	PGRP2_HUMAN			2	598	-			157					A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	ENST00000340880.4	37	c.469G>T	CCDS12330.2	.	.	.	.	.	.	.	.	.	.	C	13.40	2.226544	0.39300	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.08102	3.2;3.13	3.56	2.51	0.30379	.	0.475652	0.17490	N	0.172382	T	0.16938	0.0407	L	0.57536	1.79	0.09310	N	1	D;D	0.61080	0.989;0.981	P;P	0.58172	0.834;0.687	T	0.04005	-1.0985	10	0.72032	D	0.01	-13.5073	7.1839	0.25789	0.0:0.8693:0.0:0.1307	.	157;157	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	Y	157	ENSP00000345968:D157Y;ENSP00000292609:D157Y	ENSP00000292609:D157Y	D	-	1	0	PGLYRP2	15448012	0.000000	0.05858	0.021000	0.16686	0.034000	0.12701	-0.010000	0.12743	0.625000	0.30304	0.467000	0.42956	GAT		0.582	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		10	54	1	0	0.00621372	1	0.0067403	10	54				
SLC38A11	151258	broad.mit.edu	37	2	165755002	165755002	+	Missense_Mutation	SNP	G	G	C			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:165755002G>C	ENST00000409149.3	-	11	1457	c.1166C>G	c.(1165-1167)tCt>tGt	p.S389C	SLC38A11_ENST00000409058.1_Missense_Mutation_p.S420C|SLC38A11_ENST00000409662.1_Missense_Mutation_p.S389C|RNA5SP111_ENST00000411386.1_RNA|SLC38A11_ENST00000303735.4_Missense_Mutation_p.S367C	NM_001199148.1	NP_001186077.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	389					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						CTGAACATGAGACTCTGAGGT	0.353																																						ENST00000303735.4																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						c.(1099-1101)tCt>tGt		solute carrier family 38, member 11							81.0	77.0	79.0					2																	165755002		2203	4300	6503	SO:0001583	missense	151258				amino acid transport|sodium ion transport	integral to membrane		g.chr2:165755002G>C		CCDS2224.1, CCDS56142.1	2q24.3	2013-05-22			ENSG00000169507	ENSG00000169507		"""Solute carriers"""	26836	protein-coding gene	gene with protein product							Standard	NM_173512		Approved	FLJ39822, AVT2	uc002ucw.2	Q08AI6	OTTHUMG00000132144	ENST00000409149.3:c.1166C>G	2.37:g.165755002G>C	ENSP00000386272:p.Ser389Cys					SLC38A11_ENST00000409662.1_Missense_Mutation_p.S389C|SLC38A11_ENST00000409058.1_Missense_Mutation_p.S420C|SLC38A11_ENST00000409149.3_Missense_Mutation_p.S389C	p.S367C	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN			10	1430	-			389					B4DF99|Q8N887	Missense_Mutation	SNP	ENST00000409149.3	37	c.1100C>G	CCDS56142.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.986669	0.35036	.	.	ENSG00000169507	ENST00000303735;ENST00000409149;ENST00000409058;ENST00000409662	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	5.56	4.68	0.58851	.	0.306471	0.30723	N	0.009020	T	0.27169	0.0666	L	0.59436	1.845	0.19300	N	0.999971	P;P	0.43885	0.771;0.82	B;B	0.43331	0.321;0.416	T	0.11324	-1.0592	10	0.59425	D	0.04	-21.0106	14.2311	0.65892	0.0727:0.0:0.9273:0.0	.	389;367	Q08AI6;Q08AI6-2	S38AB_HUMAN;.	C	367;389;420;389	ENSP00000306178:S367C;ENSP00000386272:S389C;ENSP00000387345:S420C;ENSP00000386774:S389C	ENSP00000306178:S367C	S	-	2	0	SLC38A11	165463248	0.998000	0.40836	0.107000	0.21349	0.224000	0.24922	2.085000	0.41634	1.361000	0.45981	0.563000	0.77884	TCT		0.353	SLC38A11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333390.1	NM_173512		3	53	0	0	0	1	0	3	53				
NRG3	10718	broad.mit.edu	37	10	84118519	84118519	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr10:84118519G>A	ENST00000404547.1	+	2	848	c.848G>A	c.(847-849)cGa>cAa	p.R283Q	NRG3_ENST00000404576.2_Missense_Mutation_p.R87Q|NRG3_ENST00000372142.2_Missense_Mutation_p.R62Q|NRG3_ENST00000556918.1_Missense_Mutation_p.R113Q|NRG3_ENST00000372141.2_Missense_Mutation_p.R283Q			P56975	NRG3_HUMAN	neuregulin 3	283	Ser/Thr-rich.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TCCACAGAGCGATCCGAGCAC	0.517																																						ENST00000372142.2																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(184-186)cGa>cAa		neuregulin 3							185.0	141.0	156.0					10																	84118519		2203	4300	6503	SO:0001583	missense	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:84118519G>A	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.848G>A	10.37:g.84118519G>A	ENSP00000384796:p.Arg283Gln					NRG3_ENST00000404576.2_Missense_Mutation_p.R87Q|NRG3_ENST00000372141.2_Missense_Mutation_p.R283Q|NRG3_ENST00000556918.1_Missense_Mutation_p.R113Q|NRG3_ENST00000404547.1_Missense_Mutation_p.R283Q	p.R62Q	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	3	459	+			283					A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	c.185G>A	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.876658	0.33162	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918	T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26	5.72	5.72	0.89469	.	0.000000	0.47852	D	0.000210	T	0.55321	0.1913	M	0.64170	1.965	0.80722	D	1	B;D;D	0.71674	0.169;0.998;0.998	B;D;P	0.66979	0.018;0.948;0.901	T	0.42649	-0.9439	10	0.21014	T	0.42	-5.3308	17.3885	0.87423	0.0:0.0:1.0:0.0	.	283;62;283	B9EGV5;P56975-3;P56975-4	.;.;.	Q	283;283;283;62;87;113	ENSP00000361214:R283Q;ENSP00000384796:R283Q;ENSP00000361215:R62Q;ENSP00000385804:R87Q;ENSP00000451376:R113Q	ENSP00000361214:R283Q	R	+	2	0	NRG3	84108499	1.000000	0.71417	0.280000	0.24747	0.415000	0.31203	2.906000	0.48735	2.711000	0.92665	0.655000	0.94253	CGA		0.517	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		9	61	0	0	0	1	0	9	61				
TGM1	7051	broad.mit.edu	37	14	24731392	24731392	+	Missense_Mutation	SNP	G	G	A	rs147479810	byFrequency	TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr14:24731392G>A	ENST00000206765.6	-	2	290	c.167C>T	c.(166-168)gCg>gTg	p.A56V	TGM1_ENST00000544573.1_5'UTR	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	56	Membrane anchorage region.				cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GTCATCTGCCGCATTTCGGCA	0.657													G|||	15	0.00299521	0.0	0.0	5008	,	,		17424	0.0139		0.0	False		,,,				2504	0.001					ENST00000206765.6																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24						c.(166-168)gCg>gTg		transglutaminase 1	L-Glutamine(DB00130)	G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	59.0	59.0	59.0		167	-2.5	0.0	14	dbSNP_134	59	0,8600		0,0,4300	yes	missense	TGM1	NM_000359.2	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	56/818	24731392	1,13005	2203	4300	6503	SO:0001583	missense	7051				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr14:24731392G>A	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.167C>T	14.37:g.24731392G>A	ENSP00000206765:p.Ala56Val					TGM1_ENST00000544573.1_5'UTR	p.A56V	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN		GBM - Glioblastoma multiforme(265;0.0186)	2	290	-			56			Membrane anchorage region.		B4DWR7|Q197M4	Missense_Mutation	SNP	ENST00000206765.6	37	c.167C>T	CCDS9622.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	2.844	-0.239814	0.05944	2.27E-4	0.0	ENSG00000092295	ENST00000206765	T	0.80123	-1.34	4.34	-2.55	0.06288	.	2.555090	0.01435	N	0.014879	T	0.63070	0.2480	N	0.08118	0	0.09310	N	0.999999	B	0.20261	0.043	B	0.10450	0.005	T	0.51741	-0.8667	10	0.27082	T	0.32	3.2885	8.3949	0.32550	0.1095:0.1943:0.616:0.0802	.	56	P22735	TGM1_HUMAN	V	56	ENSP00000206765:A56V	ENSP00000206765:A56V	A	-	2	0	TGM1	23801232	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-0.223000	0.09177	-1.230000	0.02561	-2.589000	0.00165	GCG		0.657	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359		10	62	0	0	0	1	0	10	62				
EDAR	10913	broad.mit.edu	37	2	109545824	109545824	+	Silent	SNP	G	G	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:109545824G>A	ENST00000258443.2	-	4	616	c.186C>T	c.(184-186)taC>taT	p.Y62Y	EDAR_ENST00000409271.1_Silent_p.Y62Y|EDAR_ENST00000376651.1_Silent_p.Y62Y	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	62					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CTTTGGTGCCGTAGCCACAGG	0.602																																						ENST00000409271.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						c.(184-186)taC>taT		ectodysplasin A receptor							53.0	52.0	52.0					2																	109545824		2203	4300	6503	SO:0001819	synonymous_variant	10913				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	g.chr2:109545824G>A	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"""Tumor necrosis factor receptor superfamily"""	2895	protein-coding gene	gene with protein product		604095	"""ectodysplasin 1, anhidrotic receptor"""	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.186C>T	2.37:g.109545824G>A						EDAR_ENST00000376651.1_Silent_p.Y62Y|EDAR_ENST00000258443.2_Silent_p.Y62Y	p.Y62Y			Q9UNE0	EDAR_HUMAN			5	629	-			62					B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Silent	SNP	ENST00000258443.2	37	c.186C>T	CCDS2081.1																																																																																				0.602	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1			3	47	0	0	0	1	0	3	47				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	100	0	0	0	1	0	5	100				
SPEG	10290	broad.mit.edu	37	2	220334050	220334050	+	Missense_Mutation	SNP	T	T	C			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:220334050T>C	ENST00000312358.7	+	13	3796	c.3664T>C	c.(3664-3666)Ttc>Ctc	p.F1222L	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1222	Ig-like 6.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CATCAGCTGGTTCCACAATGG	0.642																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(3664-3666)Ttc>Ctc		SPEG complex locus							45.0	55.0	51.0					2																	220334050		2169	4258	6427	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220334050T>C	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.3664T>C	2.37:g.220334050T>C	ENSP00000311684:p.Phe1222Leu					SPEG_ENST00000485813.1_3'UTR	p.F1222L	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	13	3796	+		Renal(207;0.0183)	1222			Ig-like 6.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.3664T>C	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.179069	0.78564	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.41400	1.0	4.94	4.94	0.65067	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.44097	D	0.000481	T	0.42245	0.1194	N	0.17872	0.535	0.80722	D	1	D	0.57571	0.98	P	0.54174	0.744	T	0.46091	-0.9216	10	0.72032	D	0.01	.	14.7663	0.69642	0.0:0.0:0.0:1.0	.	1222	Q15772	SPEG_HUMAN	L	1222	ENSP00000311684:F1222L	ENSP00000265327:F1222L	F	+	1	0	SPEG	220042294	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.090000	0.71397	2.081000	0.62600	0.533000	0.62120	TTC		0.642	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		3	22	0	0	0	1	0	3	22				
KIF1B	23095	broad.mit.edu	37	1	10364265	10364265	+	Intron	SNP	G	G	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr1:10364265G>A	ENST00000377086.1	+	22	2317				KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.G1008R|KIF1B_ENST00000377093.4_Missense_Mutation_p.G1008R|RN7SL731P_ENST00000584329.1_RNA|KIF1B_ENST00000377081.1_Intron			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CCAAGAAAAAGGGGGTAAAGG	0.413																																						ENST00000377093.4																			0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(3022-3024)Ggg>Agg		kinesin family member 1B							112.0	121.0	118.0					1																	10364265		2203	4300	6503	SO:0001627	intron_variant	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10364265G>A	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2115+6961G>A	1.37:g.10364265G>A						KIF1B_ENST00000377083.1_Missense_Mutation_p.G1008R|KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Intron	p.G1008R	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	21	3175	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	0					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.3022G>A		.	.	.	.	.	.	.	.	.	.	G	8.022	0.759801	0.15846	.	.	ENSG00000054523	ENST00000377093;ENST00000377083	T;T	0.72725	-0.68;-0.68	5.48	3.27	0.37495	.	.	.	.	.	T	0.57066	0.2028	.	.	.	0.20196	N	0.999925	B	0.18863	0.031	B	0.24006	0.05	T	0.44003	-0.9356	8	0.23891	T	0.37	.	11.1421	0.48408	0.1684:0.0:0.8316:0.0	.	1008	O60333-3	.	R	1008	ENSP00000366297:G1008R;ENSP00000366287:G1008R	ENSP00000366287:G1008R	G	+	1	0	KIF1B	10286852	0.552000	0.26505	0.565000	0.28409	0.635000	0.38103	2.230000	0.42999	1.318000	0.45170	0.655000	0.94253	GGG		0.413	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			7	151	0	0	0	1	0	7	151				
NUDT19	390916	broad.mit.edu	37	19	33183247	33183247	+	Silent	SNP	C	C	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr19:33183247C>T	ENST00000397061.3	+	1	381	c.381C>T	c.(379-381)tgC>tgT	p.C127C	CTD-2538C1.2_ENST00000592431.1_lincRNA	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	127	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					TCCGCATCTGCGCCGTGCGGG	0.701																																						ENST00000397061.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(379-381)tgC>tgT		nudix (nucleoside diphosphate linked moiety X)-type motif 19							16.0	20.0	18.0					19																	33183247		2124	4241	6365	SO:0001819	synonymous_variant	390916					mitochondrion|peroxisome	hydrolase activity|metal ion binding	g.chr19:33183247C>T		CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"""Nudix motif containing"""	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.381C>T	19.37:g.33183247C>T							p.C127C	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN			1	381	+	Esophageal squamous(110;0.137)		127			Nudix hydrolase.			Silent	SNP	ENST00000397061.3	37	c.381C>T	CCDS42543.1																																																																																				0.701	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450338.3	XM_372723		3	19	0	0	0	1	0	3	19				
C10orf10	11067	broad.mit.edu	37	10	45473237	45473237	+	Missense_Mutation	SNP	G	G	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr10:45473237G>T	ENST00000298295.3	-	2	459	c.242C>A	c.(241-243)tCc>tAc	p.S81Y	RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000340258.5_Intron|RASSF4_ENST00000472561.1_Intron|C10orf10_ENST00000496638.1_Intron	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN	chromosome 10 open reading frame 10	81						mitochondrion (GO:0005739)				lung(1)	1						GTCTCGCAGGGACACAGCAGG	0.672																																						ENST00000298295.3																			0				lung(1)	1						c.(241-243)tCc>tAc		chromosome 10 open reading frame 10							40.0	42.0	41.0					10																	45473237		2203	4299	6502	SO:0001583	missense	11067					mitochondrion		g.chr10:45473237G>T	AB022718	CCDS7210.1	10q11.21	2014-07-31			ENSG00000165507	ENSG00000165507			23355	protein-coding gene	gene with protein product	"""decidual protein induced by progesterone"", ""fasting induced"", ""fat-specific expressed gene"""	611309				24530860, 19937567, 16123073	Standard	NM_007021		Approved	DEPP, FIG, Fseg	uc001jbr.4	Q9NTK1	OTTHUMG00000018063	ENST00000298295.3:c.242C>A	10.37:g.45473237G>T	ENSP00000298295:p.Ser81Tyr					C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000472561.1_Intron|RASSF4_ENST00000340258.4_Intron	p.S81Y	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN			2	459	-			81					B2R6A1|O94997|Q5T735|Q76MX8	Missense_Mutation	SNP	ENST00000298295.3	37	c.242C>A	CCDS7210.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321161	0.41096	.	.	ENSG00000165507	ENST00000298295;ENST00000432283;ENST00000448778	T;T	0.52295	0.67;0.67	4.92	4.92	0.64577	.	0.149124	0.31601	N	0.007370	T	0.54431	0.1858	L	0.34521	1.04	0.09310	N	0.999991	D	0.69078	0.997	D	0.63192	0.912	T	0.49762	-0.8905	10	0.87932	D	0	-14.7161	13.4743	0.61299	0.0:0.0:1.0:0.0	.	81	Q9NTK1	DEPP_HUMAN	Y	81	ENSP00000298295:S81Y;ENSP00000414494:S81Y	ENSP00000298295:S81Y	S	-	2	0	C10orf10	44793243	0.918000	0.31147	0.137000	0.22149	0.031000	0.12232	2.329000	0.43876	2.576000	0.86940	0.561000	0.74099	TCC		0.672	C10orf10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047758.1	NM_007021		10	66	1	0	1.33987e-11	1	1.68141e-11	10	66				
CLK1	1195	broad.mit.edu	37	2	201724917	201724917	+	Missense_Mutation	SNP	T	T	C			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:201724917T>C	ENST00000321356.4	-	4	547	c.412A>G	c.(412-414)Acc>Gcc	p.T138A	CLK1_ENST00000434813.2_Missense_Mutation_p.T180A|Y_RNA_ENST00000516950.1_RNA|CLK1_ENST00000492793.1_5'Flank|CLK1_ENST00000409769.2_5'Flank	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	138					cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						ACACTCCTGGTTCTTTTCCTT	0.438																																						ENST00000434813.2																			0				NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(538-540)Acc>Gcc		CDC-like kinase 1							190.0	162.0	171.0					2																	201724917		2203	4300	6503	SO:0001583	missense	1195				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr2:201724917T>C	L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"""CDC-like kinases"""	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.412A>G	2.37:g.201724917T>C	ENSP00000326830:p.Thr138Ala					CLK1_ENST00000321356.4_Missense_Mutation_p.T138A	p.T180A	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN			4	872	-			138			Protein kinase.		B4DFW7|Q0P694|Q8N5V8	Missense_Mutation	SNP	ENST00000321356.4	37	c.538A>G	CCDS2331.1	.	.	.	.	.	.	.	.	.	.	T	8.291	0.817759	0.16607	.	.	ENSG00000013441	ENST00000321356;ENST00000434813	T;T	0.65178	-0.14;-0.13	5.15	-4.24	0.03777	.	0.121353	0.56097	D	0.000027	T	0.25232	0.0613	N	0.02539	-0.55	0.35162	D	0.770755	B;B	0.18166	0.026;0.011	B;B	0.12837	0.008;0.005	T	0.24154	-1.0168	10	0.10636	T	0.68	.	8.749	0.34605	0.7083:0.0:0.0986:0.1931	.	180;138	B4DFW7;P49759	.;CLK1_HUMAN	A	138;180	ENSP00000326830:T138A;ENSP00000394734:T180A	ENSP00000326830:T138A	T	-	1	0	CLK1	201433162	0.997000	0.39634	0.996000	0.52242	0.998000	0.95712	0.510000	0.22723	-0.295000	0.08960	0.528000	0.53228	ACC		0.438	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2			6	83	0	0	0	1	0	6	83				
SNPH	9751	broad.mit.edu	37	20	1281299	1281299	+	Silent	SNP	G	G	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr20:1281299G>T	ENST00000381873.3	+	5	488	c.252G>T	c.(250-252)gtG>gtT	p.V84V	SNPH_ENST00000381867.1_Silent_p.V128V	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin	84					brain development (GO:0007420)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|synaptic vesicle docking involved in exocytosis (GO:0016081)	cell junction (GO:0030054)|cytoplasmic microtubule (GO:0005881)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)	syntaxin-1 binding (GO:0017075)			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AGAAGGAGGTGTGCATCCGGC	0.652																																						ENST00000381867.1																			0				endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(382-384)gtG>gtT		syntaphilin							46.0	42.0	43.0					20																	1281299		2202	4300	6502	SO:0001819	synonymous_variant	9751				synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding	g.chr20:1281299G>T		CCDS13012.1	20p13	2008-07-02			ENSG00000101298	ENSG00000101298			15931	protein-coding gene	gene with protein product		604942				10707983	Standard	NM_014723		Approved	bA314N13.5	uc002wes.3	O15079	OTTHUMG00000031662	ENST00000381873.3:c.252G>T	20.37:g.1281299G>T						SNPH_ENST00000381873.3_Silent_p.V84V	p.V128V			O15079	SNPH_HUMAN			6	1026	+			84					Q8IYI3	Silent	SNP	ENST00000381873.3	37	c.384G>T	CCDS13012.1																																																																																				0.652	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145240.2	NM_014723		7	36	1	0	2.0095e-06	1	2.38163e-06	7	36				
SLC39A10	57181	broad.mit.edu	37	2	196545261	196545261	+	Silent	SNP	A	A	G			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:196545261A>G	ENST00000409086.3	+	2	770	c.495A>G	c.(493-495)aaA>aaG	p.K165K	SLC39A10_ENST00000541054.1_Intron|SLC39A10_ENST00000359634.5_Silent_p.K165K	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	165	His-rich.				transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			TGTCTGTAAAATCTGATGATA	0.348																																						ENST00000409086.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34						c.(493-495)aaA>aaG		solute carrier family 39 (zinc transporter), member 10							110.0	95.0	100.0					2																	196545261		2203	4300	6503	SO:0001819	synonymous_variant	57181				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr2:196545261A>G		CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"""Solute carriers"""	20861	protein-coding gene	gene with protein product		608733	"""solute carrier family 39 (metal ion transporter), member 10"""			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.495A>G	2.37:g.196545261A>G						SLC39A10_ENST00000359634.5_Silent_p.K165K|SLC39A10_ENST00000541054.1_Intron	p.K165K	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.221)		2	770	+			165			His-rich.		A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Silent	SNP	ENST00000409086.3	37	c.495A>G	CCDS33353.1																																																																																				0.348	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335186.1	XM_047707		14	89	0	0	0	1	0	14	89				
SPOP	8405	broad.mit.edu	37	17	47696450	47696450	+	Missense_Mutation	SNP	A	A	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr17:47696450A>T	ENST00000393328.2	-	6	738	c.373T>A	c.(373-375)Ttt>Att	p.F125I	SPOP_ENST00000503676.1_Missense_Mutation_p.F125I|SPOP_ENST00000347630.2_Missense_Mutation_p.F125I|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000393331.3_Missense_Mutation_p.F125I|SPOP_ENST00000504102.1_Missense_Mutation_p.F125I	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	125	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F125V(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CCTTGCACAAACCTATATGCC	0.433										Prostate(2;0.17)																												ENST00000393331.3																			1	Substitution - Missense(1)	p.F125V(1)	prostate(1)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(373-375)Ttt>Att		speckle-type POZ protein							120.0	123.0	122.0					17																	47696450		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696450A>T	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.373T>A	17.37:g.47696450A>T	ENSP00000377001:p.Phe125Ile	Prostate(2;0.17)				SPOP_ENST00000393328.2_Missense_Mutation_p.F125I|SPOP_ENST00000347630.2_Missense_Mutation_p.F125I|SPOP_ENST00000504102.1_Missense_Mutation_p.F125I|SPOP_ENST00000503676.1_Missense_Mutation_p.F125I	p.F125I	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	843	-			125			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.373T>A	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.006836	0.93287	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.74306	0.3699	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77156	-0.2691	10	0.51188	T	0.08	-15.9789	15.258	0.73599	1.0:0.0:0.0:0.0	.	125	O43791	SPOP_HUMAN	I	125;125;125;125;9;125;78;125;125;125;125	ENSP00000377001:F125I;ENSP00000377004:F125I;ENSP00000240327:F125I;ENSP00000425905:F125I;ENSP00000420908:F125I;ENSP00000426986:F125I;ENSP00000420960:F125I;ENSP00000426262:F125I;ENSP00000424119:F125I	ENSP00000240327:F125I	F	-	1	0	SPOP	45051449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.131000	0.94446	2.261000	0.74972	0.460000	0.39030	TTT		0.433	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		46	88	0	0	0	1	0	46	88				
ADCY4	196883	broad.mit.edu	37	14	24791911	24791911	+	Silent	SNP	G	G	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr14:24791911G>A	ENST00000310677.4	-	20	2459	c.2346C>T	c.(2344-2346)ccC>ccT	p.P782P	ADCY4_ENST00000418030.2_Silent_p.P782P|ADCY4_ENST00000554068.2_Silent_p.P782P	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	782					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)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|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)|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)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TCAGCACTCCGGGCCTGAAGG	0.602																																						ENST00000310677.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2344-2346)ccC>ccT		adenylate cyclase 4							78.0	78.0	78.0					14																	24791911		2203	4300	6503	SO:0001819	synonymous_variant	196883				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	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24791911G>A	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.2346C>T	14.37:g.24791911G>A						ADCY4_ENST00000418030.2_Silent_p.P782P|ADCY4_ENST00000554068.2_Silent_p.P782P	p.P782P	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	20	2459	-			782					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	ENST00000310677.4	37	c.2346C>T	CCDS9627.1																																																																																				0.602	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			11	16	0	0	0	1	0	11	16				
ZMYND12	84217	broad.mit.edu	37	1	42915623	42915623	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr1:42915623C>T	ENST00000372565.3	-	2	487	c.218G>A	c.(217-219)cGg>cAg	p.R73Q	ZMYND12_ENST00000433602.2_Silent_p.T20T	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	73						intracellular (GO:0005622)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCCATGCTGCCGTTCTTCCTC	0.547																																						ENST00000372565.3																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17						c.(217-219)cGg>cAg		zinc finger, MYND-type containing 12							89.0	78.0	82.0					1																	42915623		2203	4300	6503	SO:0001583	missense	84217					intracellular	zinc ion binding	g.chr1:42915623C>T	AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"""Zinc fingers, MYND-type"""	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.218G>A	1.37:g.42915623C>T	ENSP00000361646:p.Arg73Gln					ZMYND12_ENST00000433602.2_Silent_p.T20T	p.R73Q	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN			2	487	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	73					Q5VUS6|Q8TC87|Q96M51	Missense_Mutation	SNP	ENST00000372565.3	37	c.218G>A	CCDS467.1	.	.	.	.	.	.	.	.	.	.	C	32	5.170111	0.94768	.	.	ENSG00000066185	ENST00000372565	T	0.54866	0.55	5.47	5.47	0.80525	.	0.230857	0.43110	D	0.000614	T	0.72431	0.3459	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.73275	-0.4034	9	0.49607	T	0.09	-17.2609	16.8089	0.85713	0.0:1.0:0.0:0.0	.	73	Q9H0C1	ZMY12_HUMAN	Q	73	ENSP00000361646:R73Q	ENSP00000361646:R73Q	R	-	2	0	ZMYND12	42688210	0.998000	0.40836	0.997000	0.53966	0.975000	0.68041	5.626000	0.67777	2.575000	0.86900	0.313000	0.20887	CGG		0.547	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019170.1	NM_032257		13	86	0	0	0	1	0	13	86				
TBC1D1	23216	broad.mit.edu	37	4	38097623	38097623	+	Silent	SNP	A	A	G			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr4:38097623A>G	ENST00000261439.4	+	14	2665	c.2310A>G	c.(2308-2310)gtA>gtG	p.V770V	TBC1D1_ENST00000508802.1_Silent_p.V864V	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	770					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TTAAAGAAGTAACTACAGTGT	0.413																																						ENST00000261439.4																			0				NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(2308-2310)gtA>gtG		TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1							117.0	122.0	121.0					4																	38097623		2203	4300	6503	SO:0001819	synonymous_variant	23216					nucleus	Rab GTPase activator activity	g.chr4:38097623A>G	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.2310A>G	4.37:g.38097623A>G						TBC1D1_ENST00000508802.1_Silent_p.V864V	p.V770V	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN			14	2665	+			770					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Silent	SNP	ENST00000261439.4	37	c.2310A>G	CCDS33972.1	.	.	.	.	.	.	.	.	.	.	A	10.47	1.358852	0.24598	.	.	ENSG00000065882	ENST00000510573	.	.	.	5.61	-6.12	0.02124	.	.	.	.	.	T	0.51941	0.1704	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55302	-0.8162	4	.	.	.	-16.5676	10.723	0.46050	0.3694:0.1144:0.5162:0.0	.	.	.	.	D	458	.	.	N	+	1	0	TBC1D1	37774018	0.003000	0.15002	0.698000	0.30274	0.989000	0.77384	-0.893000	0.04127	-1.193000	0.02688	-0.250000	0.11733	AAC		0.413	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		6	116	0	0	0	1	0	6	116				
ACSBG1	23205	broad.mit.edu	37	15	78466000	78466000	+	Missense_Mutation	SNP	C	C	A	rs548841663		TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr15:78466000C>A	ENST00000258873.4	-	13	2229	c.2024G>T	c.(2023-2025)cGg>cTg	p.R675L	ACSBG1_ENST00000541759.1_Missense_Mutation_p.R433L|ACSBG1_ENST00000560817.1_Missense_Mutation_p.R433L	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	675					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GTGGTAGGGCCGGGCCGCCGC	0.562																																						ENST00000258873.4																			0				endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						c.(2023-2025)cGg>cTg		acyl-CoA synthetase bubblegum family member 1							84.0	71.0	75.0					15																	78466000		2196	4293	6489	SO:0001583	missense	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78466000C>A	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.2024G>T	15.37:g.78466000C>A	ENSP00000258873:p.Arg675Leu					ACSBG1_ENST00000541759.1_Missense_Mutation_p.R433L|ACSBG1_ENST00000560817.1_Missense_Mutation_p.R433L	p.R675L	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN			13	2229	-			675					B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	ENST00000258873.4	37	c.2024G>T	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.737441	0.49045	.	.	ENSG00000103740	ENST00000258873;ENST00000541759	T;T	0.10860	2.83;2.83	5.25	1.08	0.20341	.	0.456816	0.19804	N	0.105682	T	0.18299	0.0439	M	0.76938	2.355	0.32602	N	0.525785	B;B	0.29627	0.167;0.252	B;B	0.39935	0.051;0.314	T	0.13764	-1.0497	10	0.62326	D	0.03	-9.3566	8.8596	0.35249	0.0:0.6033:0.0:0.3967	.	671;675	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	L	675;433	ENSP00000258873:R675L;ENSP00000439955:R433L	ENSP00000258873:R675L	R	-	2	0	ACSBG1	76253055	0.760000	0.28428	0.549000	0.28204	0.507000	0.33981	1.231000	0.32624	0.381000	0.24851	0.591000	0.81541	CGG		0.562	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		11	47	1	0	1.58986e-06	1	1.91984e-06	11	47				
OR8B2	26595	broad.mit.edu	37	11	124253093	124253093	+	Silent	SNP	G	G	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr11:124253093G>A	ENST00000375013.2	-	1	165	c.147C>T	c.(145-147)ttC>ttT	p.F49F		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AATTTAGACCGAAAAGAGTGA	0.423																																						ENST00000375013.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23						c.(145-147)ttC>ttT		olfactory receptor, family 8, subfamily B, member 2							194.0	180.0	185.0					11																	124253093		2201	4299	6500	SO:0001819	synonymous_variant	26595				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124253093G>A	AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"""GPCR / Class A : Olfactory receptors"""	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.147C>T	11.37:g.124253093G>A							p.F49F	NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	165	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	49					Q8NGH2	Silent	SNP	ENST00000375013.2	37	c.147C>T	CCDS31708.1																																																																																				0.423	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387290.1	NM_001005468		4	164	0	0	0	1	0	4	164				
ANAPC1	64682	broad.mit.edu	37	2	112605385	112605385	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:112605385G>A	ENST00000341068.3	-	15	2480	c.1708C>T	c.(1708-1710)Ctc>Ttc	p.L570F		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	570					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TCATTATAGAGAGAATCATGA	0.363																																						ENST00000341068.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(1708-1710)Ctc>Ttc		anaphase promoting complex subunit 1							50.0	47.0	48.0					2																	112605385		2203	4298	6501	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112605385G>A	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1708C>T	2.37:g.112605385G>A	ENSP00000339109:p.Leu570Phe						p.L570F	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			15	2480	-			570					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.1708C>T	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.39|13.39	2.222463|2.222463	0.39300|0.39300	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	.|.	.|.	.|.	4.49|4.49	3.59|3.59	0.41128|0.41128	.|.	0.657691|.	0.12332|.	U|.	0.478260|.	T|T	0.27205|0.27205	0.0667|0.0667	N|N	0.17082|0.17082	0.46|0.46	0.31699|0.31699	N|N	0.640893|0.640893	B|.	0.22604|.	0.072|.	B|.	0.21917|.	0.037|.	T|T	0.21280|0.21280	-1.0250|-1.0250	9|5	0.23302|.	T|.	0.38|.	-11.2078|-11.2078	6.4456|6.4456	0.21875|0.21875	0.0902:0.0:0.6076:0.3021|0.0902:0.0:0.6076:0.3021	.|.	570|.	Q9H1A4|.	APC1_HUMAN|.	F|F	570|104	.|.	ENSP00000339109:L570F|.	L|S	-|-	1|2	0|0	ANAPC1|ANAPC1	112321856|112321856	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.832000|1.832000	0.39151|0.39151	2.189000|2.189000	0.69895|0.69895	0.557000|0.557000	0.71058|0.71058	CTC|TCT		0.363	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		8	168	0	0	0	1	0	8	168				
PROKR2	128674	broad.mit.edu	37	20	5283271	5283271	+	Nonsense_Mutation	SNP	G	G	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr20:5283271G>T	ENST00000217270.3	-	2	569	c.570C>A	c.(568-570)taC>taA	p.Y190*	PROKR2_ENST00000546004.1_Nonsense_Mutation_p.Y190*	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	190					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CTGTTGCAAAGTAAGCCGATG	0.498										HNSCC(71;0.22)																												ENST00000546004.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						c.(568-570)taC>taA		prokineticin receptor 2							149.0	150.0	149.0					20																	5283271		2203	4300	6503	SO:0001587	stop_gained	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5283271G>T	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.570C>A	20.37:g.5283271G>T	ENSP00000217270:p.Tyr190*	HNSCC(71;0.22)				PROKR2_ENST00000217270.3_Nonsense_Mutation_p.Y190*	p.Y190*			Q8NFJ6	PKR2_HUMAN			3	816	-			190					A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Nonsense_Mutation	SNP	ENST00000217270.3	37	c.570C>A	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	G	36	5.778585	0.96929	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	.	.	.	5.31	3.34	0.38264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	9.9267	0.41496	0.1492:0.0:0.8508:0.0	.	.	.	.	X	190	.	ENSP00000217270:Y190X	Y	-	3	2	PROKR2	5231271	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	1.543000	0.36147	2.499000	0.84300	0.655000	0.94253	TAC		0.498	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		6	123	1	0	3.59834e-05	1	4.18715e-05	6	123				
OMA1	115209	broad.mit.edu	37	1	59004846	59004846	+	Missense_Mutation	SNP	C	C	G			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr1:59004846C>G	ENST00000371226.3	-	2	234	c.121G>C	c.(121-123)Gta>Cta	p.V41L	OMA1_ENST00000358603.2_Missense_Mutation_p.V41L|DAB1_ENST00000485760.1_Intron|OMA1_ENST00000467063.1_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	41					cristae formation (GO:0042407)|diet induced thermogenesis (GO:0002024)|energy homeostasis (GO:0097009)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrial protein processing (GO:0034982)|negative regulation of mitochondrial fusion (GO:0010637)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					TTAACTTGTACTTGATGACAG	0.393																																						ENST00000371226.3																			0				NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18						c.(121-123)Gta>Cta		OMA1 zinc metallopeptidase							106.0	108.0	107.0					1																	59004846		2203	4300	6503	SO:0001583	missense	115209				proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity	g.chr1:59004846C>G	AK091101	CCDS608.1	1p32.2-p32.1	2013-05-03	2013-05-03		ENSG00000162600	ENSG00000162600			29661	protein-coding gene	gene with protein product	"""overlapping activity with M-AAA protease"", ""zinc metallopeptidase OMA1"""		"""OMA1 zinc metallopeptidase homolog (S. cerevisiae)"""			12477932	Standard	NM_145243		Approved	MPRP-1, YKR087C, ZMPOMA1, FLJ33782	uc001cyy.3	Q96E52	OTTHUMG00000010068	ENST00000371226.3:c.121G>C	1.37:g.59004846C>G	ENSP00000360270:p.Val41Leu					DAB1_ENST00000485760.1_Intron|OMA1_ENST00000358603.2_Missense_Mutation_p.V41L|OMA1_ENST00000467063.1_Intron	p.V41L	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN			2	234	-	all_cancers(7;6.54e-05)		41					D3DQ54|Q5T3G6|Q5T3G7|Q5T3G8|Q5T3G9|Q5T3H0|Q8NBB3	Missense_Mutation	SNP	ENST00000371226.3	37	c.121G>C	CCDS608.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.228890	0.39399	.	.	ENSG00000162600	ENST00000358603;ENST00000371226;ENST00000456980;ENST00000419242;ENST00000426139;ENST00000453710	T;T;T;T;T;T	0.33216	2.44;2.45;1.85;1.84;1.84;1.42	4.99	4.05	0.47172	.	0.903468	0.09368	N	0.811746	T	0.26810	0.0656	L	0.51422	1.61	0.09310	N	1	B;P	0.36837	0.435;0.571	B;B	0.30855	0.057;0.121	T	0.11299	-1.0593	9	.	.	.	-2.2897	9.865	0.41138	0.1564:0.6924:0.1512:0.0	.	41;41	Q96E52;Q96E52-2	OMA1_HUMAN;.	L	41	ENSP00000351417:V41L;ENSP00000360270:V41L;ENSP00000395053:V41L;ENSP00000409589:V41L;ENSP00000416495:V41L;ENSP00000392978:V41L	.	V	-	1	0	OMA1	58777434	0.014000	0.17966	0.015000	0.15790	0.317000	0.28152	2.481000	0.45215	1.445000	0.47624	0.591000	0.81541	GTA		0.393	OMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027819.1	NM_145243		13	149	0	0	0	1	0	13	149				
IKBIP	121457	broad.mit.edu	37	12	99007742	99007742	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr12:99007742G>A	ENST00000342502.2	-	3	1085	c.674C>T	c.(673-675)aCa>aTa	p.T225I	IKBIP_ENST00000393042.3_3'UTR|IKBIP_ENST00000420861.1_Missense_Mutation_p.T119I	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	225					response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						GAGCGTTGCTGTTCGATCAAT	0.338																																						ENST00000342502.2																			0				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						c.(673-675)aCa>aTa		IKBKB interacting protein							92.0	87.0	88.0					12																	99007742		2202	4300	6502	SO:0001583	missense	121457				induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr12:99007742G>A	AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"""I kappa B kinase interacting protein"""	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.674C>T	12.37:g.99007742G>A	ENSP00000343471:p.Thr225Ile					IKBIP_ENST00000420861.1_Missense_Mutation_p.T119I|IKBIP_ENST00000393042.3_3'UTR	p.T225I	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN			3	1085	-			225					Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Missense_Mutation	SNP	ENST00000342502.2	37	c.674C>T	CCDS9067.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.429325	0.25726	.	.	ENSG00000166130	ENST00000342502;ENST00000420861	T;T	0.40476	1.05;1.03	5.24	5.24	0.73138	.	.	.	.	.	T	0.31136	0.0787	L	0.28274	0.84	0.23150	N	0.998213	P	0.40970	0.734	B	0.43478	0.421	T	0.08534	-1.0717	9	0.10636	T	0.68	.	9.3881	0.38356	0.079:0.1567:0.7643:0.0	.	225	Q70UQ0	IKIP_HUMAN	I	225;119	ENSP00000343471:T225I;ENSP00000398023:T119I	ENSP00000343471:T225I	T	-	2	0	IKBIP	97531873	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	3.660000	0.54496	2.603000	0.88011	0.655000	0.94253	ACA		0.338	IKBIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408003.2	NM_153687		26	63	0	0	0	1	0	26	63				
TAF1D	79101	broad.mit.edu	37	11	93471313	93471313	+	Nonsense_Mutation	SNP	C	C	A			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr11:93471313C>A	ENST00000448108.2	-	3	1071	c.421G>T	c.(421-423)Gaa>Taa	p.E141*	SNORA40_ENST00000388090.1_RNA|TAF1D_ENST00000546088.1_5'Flank	NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	141					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						GCGTTTTTTTCATTCTCTGAT	0.358																																						ENST00000448108.2																			0				large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						c.(421-423)Gaa>Taa		TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa							87.0	94.0	92.0					11																	93471313		2200	4298	6498	SO:0001587	stop_gained	79101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr11:93471313C>A		CCDS8293.1	11q21	2012-05-30	2008-09-30	2008-09-30	ENSG00000166012	ENSG00000166012			28759	protein-coding gene	gene with protein product		612823	"""Josephin domain containing 3"""	JOSD3		15520167, 17318177	Standard	NM_024116		Approved	MGC5306, TAF(I)41	uc001pec.3	Q9H5J8	OTTHUMG00000167451	ENST00000448108.2:c.421G>T	11.37:g.93471313C>A	ENSP00000410409:p.Glu141*						p.E141*	NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN			3	1071	-			141					Q6I9Y6	Nonsense_Mutation	SNP	ENST00000448108.2	37	c.421G>T	CCDS8293.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.272393	0.59649	.	.	ENSG00000166012	ENST00000448108	.	.	.	5.45	4.48	0.54585	.	0.720818	0.13362	N	0.393542	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-4.1921	11.0092	0.47652	0.1855:0.8145:0.0:0.0	.	.	.	.	X	141	.	ENSP00000314971:E141X	E	-	1	0	TAF1D	93110961	0.359000	0.24955	0.938000	0.37757	0.069000	0.16628	1.451000	0.35145	2.716000	0.92895	0.655000	0.94253	GAA		0.358	TAF1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394662.2	NM_024116		20	97	1	0	3.62473e-10	1	4.46121e-10	20	97				
ESRRA	2101	broad.mit.edu	37	11	64081763	64081763	+	Silent	SNP	G	G	A	rs368950323		TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr11:64081763G>A	ENST00000405666.1	+	4	729	c.495G>A	c.(493-495)ccG>ccA	p.P165P	ESRRA_ENST00000000442.6_Silent_p.P165P|ESRRA_ENST00000406310.1_Silent_p.P165P	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	165					cartilage development (GO:0051216)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						AGCGGCGGCCGGAGGTGGACC	0.682																																						ENST00000405666.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						c.(493-495)ccG>ccA		estrogen-related receptor alpha		G		0,3882		0,0,1941	17.0	25.0	23.0		495	-0.1	1.0	11		23	1,8249		0,1,4124	no	coding-synonymous	ESRRA	NM_004451.3		0,1,6065	AA,AG,GG		0.0121,0.0,0.0082		165/424	64081763	1,12131	1941	4125	6066	SO:0001819	synonymous_variant	2101				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr11:64081763G>A	X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153		"""Nuclear hormone receptors"""	3471	protein-coding gene	gene with protein product		601998		ESRL1		3267207	Standard	NM_004451		Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.495G>A	11.37:g.64081763G>A						ESRRA_ENST00000406310.1_Silent_p.P165P|ESRRA_ENST00000000442.6_Silent_p.P165P	p.P165P			P11474	ERR1_HUMAN			4	729	+			165					Q14514	Silent	SNP	ENST00000405666.1	37	c.495G>A	CCDS41667.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.322594	0.23994	0.0	1.21E-4	ENSG00000173153	ENST00000545035	.	.	.	3.99	-0.0468	0.13846	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26189	-1.0110	4	.	.	.	.	2.044	0.03557	0.5825:0.1617:0.0983:0.1574	.	.	.	.	Q	3	.	.	R	+	2	0	ESRRA	63838339	0.018000	0.18449	1.000000	0.80357	0.940000	0.58332	-0.461000	0.06712	0.210000	0.20664	-0.487000	0.04747	CGG		0.682	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319304.1	NM_004451		3	10	0	0	0	1	0	3	10				
OR8B3	390271	broad.mit.edu	37	11	124267101	124267101	+	Silent	SNP	G	G	A	rs140121900	byFrequency	TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr11:124267101G>A	ENST00000354597.3	-	1	163	c.147C>T	c.(145-147)ttC>ttT	p.F49F		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AATTTAGACCGAAAAGAATGA	0.418													g|||	2	0.000399361	0.0008	0.0	5008	,	,		15874	0.0		0.001	False		,,,				2504	0.0					ENST00000354597.3																			0				kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(145-147)ttC>ttT		olfactory receptor, family 8, subfamily B, member 3		G		3,4399		0,3,2198	141.0	146.0	144.0		147	-2.7	0.0	11	dbSNP_134	144	14,8584		0,14,4285	no	coding-synonymous	OR8B3	NM_001005467.1		0,17,6483	AA,AG,GG		0.1628,0.0682,0.1308		49/314	124267101	17,12983	2201	4299	6500	SO:0001819	synonymous_variant	390271				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124267101G>A	AB065827	CCDS31709.1	11q24.1	2012-08-09			ENSG00000196661	ENSG00000196661		"""GPCR / Class A : Olfactory receptors"""	8472	protein-coding gene	gene with protein product							Standard	NM_001005467		Approved		uc010saj.2	Q8NGG8	OTTHUMG00000165983	ENST00000354597.3:c.147C>T	11.37:g.124267101G>A							p.F49F	NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	163	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	49					Q6IFQ8|Q8NGH1	Silent	SNP	ENST00000354597.3	37	c.147C>T	CCDS31709.1																																																																																				0.418	OR8B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387291.1	NM_001005467		14	121	0	0	0	1	0	14	121				
ZNF326	284695	broad.mit.edu	37	1	90475763	90475764	+	Frame_Shift_Ins	INS	-	-	T			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr1:90475763_90475764insT	ENST00000340281.4	+	6	875_876	c.732_733insT	c.(733-735)tttfs	p.F245fs	ZNF326_ENST00000455342.2_Frame_Shift_Ins_p.F39fs|ZNF326_ENST00000370447.3_Frame_Shift_Ins_p.F156fs	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	245					mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		TGATGCAGCCATTTAATAAGCC	0.386																																						ENST00000340281.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25						c.(730-735)ccttaafs		zinc finger protein 326																																				SO:0001589	frameshift_variant	284695				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding	g.chr1:90475763_90475764insT	BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"""Zinc fingers, C2H2-type"""	14104	protein-coding gene	gene with protein product	"""ZNF-protein interacting with nuclear mRNPs and DBC1"""	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.735dupT	1.37:g.90475766_90475766dupT	ENSP00000340796:p.Phe245fs					ZNF326_ENST00000455342.2_Frame_Shift_Ins_p.*39fs|ZNF326_ENST00000370447.2_Frame_Shift_Ins_p.*156fs	p.*245fs	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN		all cancers(265;0.00728)|Epithelial(280;0.0265)	6	875_876	+		all_lung(203;0.0116)|Lung NSC(277;0.0417)	245					A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Frame_Shift_Ins	INS	ENST00000340281.4	37	c.732_733insT	CCDS727.1																																																																																				0.386	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029428.2	NM_181781		28	67						28	67	---	---	---	---
ANTXR1	84168	broad.mit.edu	37	2	69472510	69472511	+	Frame_Shift_Ins	INS	-	-	C			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:69472510_69472511insC	ENST00000303714.4	+	18	1910_1911	c.1588_1589insC	c.(1588-1590)accfs	p.T530fs		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	530	Pro-rich.				actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						cagcgcccctacccctcccatc	0.708									Familial Infantile Hemangioma																													ENST00000303714.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1588-1590)cccfs		anthrax toxin receptor 1																																				SO:0001589	frameshift_variant	84168	Familial Infantile Hemangioma	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	g.chr2:69472510_69472511insC	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.1592dupC	2.37:g.69472514_69472514dupC	ENSP00000301945:p.Thr530fs						p.P530fs	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN			18	1910_1911	+			530			Pro-rich.		A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Frame_Shift_Ins	INS	ENST00000303714.4	37	c.1588_1589insC	CCDS1892.1																																																																																				0.708	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208		2	4						2	4	---	---	---	---
NXPH2	11249	broad.mit.edu	37	2	139429025	139429027	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:139429025_139429027delTGA	ENST00000272641.3	-	2	366_368	c.260_262delTCA	c.(259-264)atcacg>acg	p.I87del		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	87	II.				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		TGAATCTCCGTGATGTTGGCCAG	0.488																																						ENST00000272641.3																			0				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22						c.(259-264)acg>a		neurexophilin 2																																				SO:0001651	inframe_deletion	11249				neuropeptide signaling pathway	extracellular region		g.chr2:139429025_139429027delTGA	AF043467	CCDS46421.1	2q22.1	2008-05-15			ENSG00000144227	ENSG00000144227			8076	protein-coding gene	gene with protein product		604635				9570794	Standard	NM_007226		Approved	NPH2	uc002tvi.3	O95156	OTTHUMG00000153636	ENST00000272641.3:c.260_262delTCA	2.37:g.139429025_139429027delTGA	ENSP00000272641:p.Ile87del						p.IT87del	NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.101)	2	366_368	-			87			II.		B7WP24|Q494R1|Q75QC3	In_Frame_Del	DEL	ENST00000272641.3	37	c.260_262delTCA	CCDS46421.1																																																																																				0.488	NXPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331901.1			21	55						21	55	---	---	---	---
WNT6	7475	broad.mit.edu	37	2	219724790	219724792	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr2:219724790_219724792delGCT	ENST00000233948.3	+	1	247_249	c.30_32delGCT	c.(28-33)gggctg>ggg	p.L17del	WNT6_ENST00000486233.1_3'UTR	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	17					axis specification (GO:0009798)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|epithelial-mesenchymal cell signaling (GO:0060684)|nephron tubule formation (GO:0072079)|neuron differentiation (GO:0030182)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of gene expression (GO:0010628)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription, DNA-templated (GO:0045893)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.L17delL(1)		large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCGCCTCGGGCTGCTGCTGCTG	0.773																																						ENST00000233948.3																			1	Deletion - In frame(1)	p.L17delL(1)	central_nervous_system(1)	large_intestine(1)|ovary(2)|skin(1)	4						c.(28-33)ggg>gg		wingless-type MMTV integration site family, member 6				68,3608		1,66,1771						1.6	0.4			5	195,7107		11,173,3467	no	coding	WNT6	NM_006522.3		12,239,5238	A1A1,A1R,RR		2.6705,1.8498,2.3957				263,10715				SO:0001651	inframe_deletion	7475				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr2:219724790_219724792delGCT	AF079522	CCDS2425.1	2q35	2008-05-23			ENSG00000115596	ENSG00000115596		"""Wingless-type MMTV integration sites"""	12785	protein-coding gene	gene with protein product		604663				10343101, 11350055	Standard	NM_006522		Approved		uc002vjc.1	Q9Y6F9	OTTHUMG00000133082	ENST00000233948.3:c.30_32delGCT	2.37:g.219724799_219724801delGCT	ENSP00000233948:p.Leu17del					WNT6_ENST00000486233.1_3'UTR	p.GL10del	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	247_249	+		Renal(207;0.0474)	10					Q9H1J6|Q9H238	In_Frame_Del	DEL	ENST00000233948.3	37	c.30_32delGCT	CCDS2425.1																																																																																				0.773	WNT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256727.2	NM_006522		2	4						2	4	---	---	---	---
IRS2	8660	broad.mit.edu	37	13	110435612	110435613	+	Frame_Shift_Ins	INS	-	-	G			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr13:110435612_110435613insG	ENST00000375856.3	-	1	3302_3303	c.2788_2789insC	c.(2788-2790)cgcfs	p.R930fs		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	930					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)	p.R930fs*61(1)		kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			CGGCGACAGGCGGGCCCCGGGC	0.738																																					Melanoma(100;613 2409 40847)	ENST00000375856.3																			1	Insertion - Frameshift(1)	p.R930fs*61(1)	upper_aerodigestive_tract(1)	kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19						c.(2788-2790)cctfs		insulin receptor substrate 2																																				SO:0001589	frameshift_variant	8660				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	g.chr13:110435612_110435613insG	AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"""Pleckstrin homology (PH) domain containing"""	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.2789dupC	13.37:g.110435615_110435615dupG	ENSP00000365016:p.Arg930fs						p.P930fs	NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)		1	3302_3303	-	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	930					Q96RR2|Q9BZG0|Q9Y6I5	Frame_Shift_Ins	INS	ENST00000375856.3	37	c.2788_2789insC	CCDS9510.1																																																																																				0.738	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	NM_003749		2	4						2	4	---	---	---	---
HERC2P2	400322	broad.mit.edu	37	15	23299146	23299147	+	RNA	INS	-	-	A	rs572079359	byFrequency	TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr15:23299146_23299147insA	ENST00000560464.1	-	0	4510									hect domain and RLD 2 pseudogene 2																		TACATTCAAAGAAAAAAAAAAA	0.317																																						ENST00000560464.1																			0																																																			0							g.chr15:23299146_23299147insA	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23299157_23299157dupA														0	4510	-									RNA	INS	ENST00000560464.1	37																																																																																						0.317	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			3	5						3	5	---	---	---	---
SBNO2	22904	broad.mit.edu	37	19	1149395	1149395	+	Frame_Shift_Del	DEL	G	G	-			TCGA-VN-A88O-01A-11D-A34U-08	TCGA-VN-A88O-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18fadec2-995f-42b3-9f32-ac72d2670608	4756e8c9-7e46-469b-9b86-7683252186f5	g.chr19:1149395delG	ENST00000361757.3	-	3	377	c.140delC	c.(139-141)ccafs	p.P47fs	SBNO2_ENST00000587024.1_Frame_Shift_Del_p.P47fs	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	47					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCAGGGTATGGCGGCAGCGA	0.617																																						ENST00000361757.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(139-141)cafs		strawberry notch homolog 2 (Drosophila)							33.0	51.0	45.0					19																	1149395		2062	4099	6161	SO:0001589	frameshift_variant	22904				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			g.chr19:1149395delG	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.140delC	19.37:g.1149395delG	ENSP00000354733:p.Pro47fs					SBNO2_ENST00000587024.1_Frame_Shift_Del_p.P47fs	p.P47fs	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	377	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	47					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Frame_Shift_Del	DEL	ENST00000361757.3	37	c.140delC	CCDS45894.1																																																																																				0.617	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		2	4						2	4	---	---	---	---
