#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
CFAP61	26074	broad.mit.edu	37	20	20232251	20232251	+	Silent	SNP	T	T	C			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr20:20232251T>C	ENST00000245957.5	+	20	2248	c.2172T>C	c.(2170-2172)aaT>aaC	p.N724N	C20orf26_ENST00000377293.1_Silent_p.N80N|C20orf26_ENST00000377309.2_Silent_p.N80N|C20orf26_ENST00000389656.3_Silent_p.N80N	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		724										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ACTGTTTTAATGATAAAGATT	0.488																																						ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(2170-2172)aaT>aaC		chromosome 20 open reading frame 26							181.0	160.0	167.0					20																	20232251		2203	4300	6503	SO:0001819	synonymous_variant	26074							g.chr20:20232251T>C																												ENST00000245957.5:c.2172T>C	20.37:g.20232251T>C						C20orf26_ENST00000377293.1_Silent_p.N80N|C20orf26_ENST00000377309.2_Silent_p.N80N|C20orf26_ENST00000389656.3_Silent_p.N80N	p.N724N	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	20	2248	+			724					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Silent	SNP	ENST00000245957.5	37	c.2172T>C	CCDS33447.1																																																																																				0.488	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			17	170	0	0	0	1	0	17	170				
STAB2	55576	broad.mit.edu	37	12	104056648	104056648	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr12:104056648G>A	ENST00000388887.2	+	18	2098	c.1894G>A	c.(1894-1896)Gca>Aca	p.A632T		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AAATGATGTGGCAATGGAAGA	0.458																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(1894-1896)Gca>Aca		stabilin 2							126.0	119.0	121.0					12																	104056648		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104056648G>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.1894G>A	12.37:g.104056648G>A	ENSP00000373539:p.Ala632Thr						p.A632T	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			18	2098	+			632			FAS1 2.			Missense_Mutation	SNP	ENST00000388887.2	37	c.1894G>A	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555403	0.65425	.	.	ENSG00000136011	ENST00000388887	D	0.90069	-2.61	5.31	5.31	0.75309	FAS1 domain (5);	0.126827	0.51477	D	0.000081	D	0.85877	0.5799	L	0.33668	1.02	0.34013	D	0.651687	D	0.57571	0.98	P	0.51550	0.673	D	0.87075	0.2162	10	0.29301	T	0.29	.	9.4851	0.38924	0.0788:0.1461:0.7751:0.0	.	632	Q8WWQ8	STAB2_HUMAN	T	632	ENSP00000373539:A632T	ENSP00000373539:A632T	A	+	1	0	STAB2	102580778	0.992000	0.36948	0.631000	0.29282	0.543000	0.35085	1.417000	0.34770	2.478000	0.83669	0.655000	0.94253	GCA		0.458	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			10	74	0	0	0	1	0	10	74				
FAM27L	284123	broad.mit.edu	37	17	21825493	21825493	+	lincRNA	SNP	C	C	T			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr17:21825493C>T	ENST00000426869.3	+	0	197					NR_028336.1		Q8N5T8	FA27L_HUMAN	family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		tgaaatgggccgactaggatg	0.647																																						ENST00000426869.3																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14								family with sequence similarity 27-like							58.0	66.0	63.0					17																	21825493		1967	4164	6131			284123							g.chr17:21825493C>T	BC031617		17p11.2	2014-01-28				ENSG00000178130			32410	protein-coding gene	gene with protein product							Standard	NR_028336		Approved	MGC35151	uc002gyz.4	Q8N5T8			17.37:g.21825493C>T								NR_028336.1					UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)	0	197	+									RNA	SNP	ENST00000426869.3	37																																																																																						0.647	FAM27L-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389059.2	NM_203392		3	54	0	0	0	1	0	3	54				
TUBB8P7	197331	broad.mit.edu	37	16	90162338	90162338	+	RNA	SNP	T	T	C			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr16:90162338T>C	ENST00000564451.1	+	0	1691				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		GACATCCCACTCCGGGGGCTA	0.483																																						ENST00000564451.1																			0																																																			0							g.chr16:90162338T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162338T>C						TUBB8P7_ENST00000567960.1_RNA								0	1691	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.483	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	156	0	0	0	1	0	4	156				
TTL	150465	broad.mit.edu	37	2	113260504	113260504	+	Silent	SNP	G	G	A			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr2:113260504G>A	ENST00000233336.6	+	5	812	c.621G>A	c.(619-621)gtG>gtA	p.V207V		NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	207	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)|microtubule cytoskeleton organization (GO:0000226)|regulation of axon extension (GO:0030516)		ATP binding (GO:0005524)|tubulin-tyrosine ligase activity (GO:0004835)			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		GGGTCTTGGTGGATCATCAGT	0.388			T	ETV6	ALL																																	ENST00000233336.5				Dom	yes		2	2q13	150465	T	tubulin tyrosine ligase			L	ETV6		ALL		0				breast(1)|large_intestine(2)|ovary(1)	4						c.(619-621)gtG>gtA		tubulin tyrosine ligase							103.0	104.0	104.0					2																	113260504		2203	4300	6503	SO:0001819	synonymous_variant	150465				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr2:113260504G>A		CCDS2096.1	2q13	2010-04-21			ENSG00000114999	ENSG00000114999	6.3.2.25		21586	protein-coding gene	gene with protein product		608291				11431336	Standard	NM_153712		Approved	MGC46235	uc002thu.3	Q8NG68	OTTHUMG00000131316	ENST00000233336.6:c.621G>A	2.37:g.113260504G>A							p.V207V	NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)	5	812	+		Ovarian(717;0.024)	207			TTL.		Q585T3|Q7Z302|Q8N426	Silent	SNP	ENST00000233336.6	37	c.621G>A	CCDS2096.1																																																																																				0.388	TTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254085.2	NM_153712		13	39	0	0	0	1	0	13	39				
FEZF1	389549	broad.mit.edu	37	7	121942294	121942294	+	Silent	SNP	G	G	A			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr7:121942294G>A	ENST00000442488.2	-	4	1252	c.1185C>T	c.(1183-1185)aaC>aaT	p.N395N	FEZF1_ENST00000427185.2_Silent_p.N345N|FEZF1_ENST00000331178.4_Silent_p.N391N|FEZF1-AS1_ENST00000437317.1_RNA|FEZF1-AS1_ENST00000428449.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	395					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GCTTCTTGTCGTTGTGGGTGT	0.547																																						ENST00000442488.2																			0				breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						c.(1183-1185)aaC>aaT		FEZ family zinc finger 1							195.0	159.0	172.0					7																	121942294		2203	4300	6503	SO:0001819	synonymous_variant	389549				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:121942294G>A	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.1185C>T	7.37:g.121942294G>A						FEZF1_ENST00000427185.2_Silent_p.N345N|FEZF1_ENST00000331178.4_Silent_p.N391N	p.N395N	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN			4	1252	-			395					A0PJY3|A4D0W3|B4DUP9|B7ZM98	Silent	SNP	ENST00000442488.2	37	c.1185C>T	CCDS34741.2																																																																																				0.547	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		5	113	0	0	0	1	0	5	113				
AVPR1A	552	broad.mit.edu	37	12	63544328	63544328	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr12:63544328C>A	ENST00000299178.2	-	1	394	c.289G>T	c.(289-291)Gac>Tac	p.D97Y		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	97					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	ACGGCCAGGTCGGCCAGGCTG	0.667																																						ENST00000299178.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26						c.(289-291)Gac>Tac		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						22.0	27.0	25.0					12																	63544328		2203	4299	6502	SO:0001583	missense	0				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63544328C>A	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.289G>T	12.37:g.63544328C>A	ENSP00000299178:p.Asp97Tyr						p.D97Y	NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	1	394	-			97						Missense_Mutation	SNP	ENST00000299178.2	37	c.289G>T	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467685	0.84533	.	.	ENSG00000166148	ENST00000299178	D	0.88896	-2.44	4.96	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.96750	0.8939	H	0.98238	4.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98457	1.0594	9	.	.	.	-31.8265	16.7871	0.85576	0.0:1.0:0.0:0.0	.	97	P37288	V1AR_HUMAN	Y	97	ENSP00000299178:D97Y	.	D	-	1	0	AVPR1A	61830595	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.683000	0.84093	2.304000	0.77564	0.462000	0.41574	GAC		0.667	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			8	20	1	0	1.12685e-05	1	1.19728e-05	8	20				
COL4A2	1284	broad.mit.edu	37	13	110960470	110960470	+	Splice_Site	SNP	G	G	C			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr13:110960470G>C	ENST00000360467.5	+	3	405	c.99G>C	c.(97-99)gcG>gcC	p.A33A	COL4A1_ENST00000375820.4_5'Flank|COL4A1_ENST00000543140.1_5'Flank	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	33					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GCGTCTTGGCGGTAAGTCCTG	0.662																																						ENST00000360467.5																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.e3+1		collagen, type IV, alpha 2							57.0	65.0	63.0					13																	110960470		2060	4170	6230	SO:0001630	splice_region_variant	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:110960470G>C	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.99+1G>C	13.37:g.110960470G>C							p.A33_splice	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		3	405	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	33					Q14052|Q548C3|Q5VZA9|Q66K23	Splice_Site	SNP	ENST00000360467.5	37	c.99_splice	CCDS41907.1																																																																																				0.662	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846	Silent	12	37	0	0	0	1	0	12	37				
OR7A5	26659	broad.mit.edu	37	19	14938184	14938184	+	Silent	SNP	A	A	G	rs200531878		TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr19:14938184A>G	ENST00000322301.3	-	2	957	c.870T>C	c.(868-870)taT>taC	p.Y290Y	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Silent_p.Y290Y			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	290					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y290Y(2)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						TCCTCAGACTATAGATAAAGG	0.478																																						ENST00000322301.3																			2	Substitution - coding silent(2)	p.Y290Y(2)	kidney(2)	breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(868-870)taT>taC		olfactory receptor, family 7, subfamily A, member 5							74.0	72.0	72.0					19																	14938184		2203	4300	6503	SO:0001819	synonymous_variant	26659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14938184A>G	X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"""GPCR / Class A : Olfactory receptors"""	8368	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily A, member 5 pseudogene"""				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.870T>C	19.37:g.14938184A>G						OR7A5_ENST00000594432.1_Silent_p.Y290Y|OR7A5_ENST00000601611.1_Intron	p.Y290Y			Q15622	OR7A5_HUMAN			2	957	-			290					B2R682|Q6IFP1|Q96R96	Silent	SNP	ENST00000322301.3	37	c.870T>C	CCDS12318.1																																																																																				0.478	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506		4	85	0	0	0	1	0	4	85				
TBP	6908	broad.mit.edu	37	6	170871088	170871088	+	Silent	SNP	G	G	A			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr6:170871088G>A	ENST00000392092.2	+	3	543	c.264G>A	c.(262-264)caG>caA	p.Q88Q	TBP_ENST00000230354.6_Silent_p.Q88Q|TBP_ENST00000540980.1_Silent_p.Q68Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	88	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q88Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.612																																						ENST00000392092.2																			1	Substitution - coding silent(1)	p.Q88Q(1)	urinary_tract(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(262-264)caG>caA		TATA box binding protein																																				SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871088G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.264G>A	6.37:g.170871088G>A						TBP_ENST00000230354.6_Silent_p.Q88Q|TBP_ENST00000540980.1_Silent_p.Q68Q	p.Q88Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	543	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	88			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.264G>A	CCDS5315.1																																																																																				0.612	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		3	38	0	0	0	1	0	3	38				
EDN3	1908	broad.mit.edu	37	20	57876663	57876663	+	Missense_Mutation	SNP	C	C	T	rs142051051		TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr20:57876663C>T	ENST00000337938.2	+	2	637	c.251C>T	c.(250-252)gCg>gTg	p.A84V	EDN3_ENST00000371028.2_Missense_Mutation_p.A84V|EDN3_ENST00000395654.3_Missense_Mutation_p.A84V|EDN3_ENST00000371025.3_Missense_Mutation_p.A84V|EDN3_ENST00000311585.7_Missense_Mutation_p.A84V	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN	endothelin 3	84					blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inositol phosphate-mediated signaling (GO:0048016)|melanocyte differentiation (GO:0030318)|multicellular organismal development (GO:0007275)|neural crest cell migration (GO:0001755)|neuron differentiation (GO:0030182)|neutrophil chemotaxis (GO:0030593)|peptide hormone secretion (GO:0030072)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|regulation of developmental pigmentation (GO:0048070)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|signal transduction (GO:0007165)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)	p.A84E(4)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					CAGGAGCAGGCGGCCGAGGGG	0.662																																						ENST00000311585.7																			4	Substitution - Missense(4)	p.A84E(4)	lung(4)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19						c.(250-252)gCg>gTg		endothelin 3							67.0	67.0	67.0					20																	57876663		2203	4298	6501	SO:0001583	missense	1908				cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity	g.chr20:57876663C>T	X52001	CCDS13477.1, CCDS13478.1, CCDS13479.1	20q13.2-q13.3	2013-02-26			ENSG00000124205	ENSG00000124205		"""Endogenous ligands"""	3178	protein-coding gene	gene with protein product		131242					Standard	NM_000114		Approved	ET3	uc002yaq.3	P14138	OTTHUMG00000032867	ENST00000337938.2:c.251C>T	20.37:g.57876663C>T	ENSP00000337128:p.Ala84Val					EDN3_ENST00000371028.2_Missense_Mutation_p.A84V|EDN3_ENST00000395654.3_Missense_Mutation_p.A84V|EDN3_ENST00000371025.3_Missense_Mutation_p.A84V|EDN3_ENST00000337938.2_Missense_Mutation_p.A84V	p.A84V	NM_207032.1	NP_996915.1	P14138	EDN3_HUMAN			2	621	+	all_lung(29;0.0115)		84					E1P5I5|Q03229|Q7Z6D2|Q9UGT7	Missense_Mutation	SNP	ENST00000337938.2	37	c.251C>T	CCDS13477.1	.	.	.	.	.	.	.	.	.	.	C	9.632	1.136676	0.21123	.	.	ENSG00000124205	ENST00000337938;ENST00000311585;ENST00000371028;ENST00000371025;ENST00000395654	D;D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15;-2.15	4.8	-9.59	0.00556	.	5.397720	0.00977	N	0.003325	T	0.76983	0.4064	L	0.42245	1.32	0.09310	N	1	B;B;B;B	0.09022	0.002;0.001;0.001;0.002	B;B;B;B	0.08055	0.003;0.002;0.002;0.001	T	0.60352	-0.7280	10	0.40728	T	0.16	-4.3155	1.688	0.02845	0.2978:0.34:0.1841:0.1781	.	84;84;84;84	P14138-2;Q7Z6D2;P14138;Q4FAT2	.;.;EDN3_HUMAN;.	V	84	ENSP00000337128:A84V;ENSP00000311854:A84V;ENSP00000360067:A84V;ENSP00000360064:A84V;ENSP00000379015:A84V	ENSP00000311854:A84V	A	+	2	0	EDN3	57310058	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.245000	0.02899	-2.172000	0.00774	-4.272000	0.00008	GCG		0.662	EDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079919.2	NM_000114		27	66	0	0	0	1	0	27	66				
HMGCS1	3157	broad.mit.edu	37	5	43296014	43296014	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr5:43296014T>A	ENST00000325110.6	-	6	951	c.745A>T	c.(745-747)Aat>Tat	p.N249Y	HMGCS1_ENST00000433297.2_Missense_Mutation_p.N249Y	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	249					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|lipid metabolic process (GO:0006629)|liver development (GO:0001889)|male gonad development (GO:0008584)|response to acid chemical (GO:0001101)|response to drug (GO:0042493)|response to lipoprotein particle (GO:0055094)|response to low light intensity stimulus (GO:0009645)|response to purine-containing compound (GO:0014074)|response to tellurium ion (GO:0046690)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hydroxymethylglutaryl-CoA synthase activity (GO:0004421)|isomerase activity (GO:0016853)|organic acid binding (GO:0043177)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						TCTTTATCATTTCCCTCTGAA	0.318																																						ENST00000325110.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						c.(745-747)Aat>Tat		3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)							54.0	56.0	56.0					5																	43296014		2203	4300	6503	SO:0001583	missense	3157				cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity	g.chr5:43296014T>A		CCDS34154.1	5p14-p13	2012-10-02	2010-04-30			ENSG00000112972	2.3.3.10		5007	protein-coding gene	gene with protein product	"""3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase"""	142940	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble)"""	HMGCS			Standard	NM_001098272		Approved		uc003jnq.5	Q01581		ENST00000325110.6:c.745A>T	5.37:g.43296014T>A	ENSP00000322706:p.Asn249Tyr					HMGCS1_ENST00000433297.2_Missense_Mutation_p.N249Y	p.N249Y	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN			6	951	-			249					B2RDL8	Missense_Mutation	SNP	ENST00000325110.6	37	c.745A>T	CCDS34154.1	.	.	.	.	.	.	.	.	.	.	T	14.67	2.604653	0.46423	.	.	ENSG00000112972	ENST00000325110;ENST00000433297;ENST00000545275	D;D	0.90563	-2.69;-2.69	5.77	5.77	0.91146	Hydroxymethylglutaryl-coenzyme A synthase C-terminal (1);Thiolase-like (1);	0.235100	0.48767	D	0.000168	D	0.87481	0.6188	L	0.39898	1.24	0.40800	D	0.983335	B	0.11235	0.004	B	0.10450	0.005	D	0.84102	0.0396	10	0.59425	D	0.04	-18.798	16.0934	0.81106	0.0:0.0:0.0:1.0	.	249	Q01581	HMCS1_HUMAN	Y	249;249;238	ENSP00000322706:N249Y;ENSP00000399402:N249Y	ENSP00000322706:N249Y	N	-	1	0	HMGCS1	43331771	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.081000	0.50120	2.207000	0.71202	0.477000	0.44152	AAT		0.318	HMGCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368022.1			4	59	0	0	0	1	0	4	59				
MBP	4155	broad.mit.edu	37	18	74702002	74702002	+	Silent	SNP	C	C	T	rs371962636		TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr18:74702002C>T	ENST00000397869.3	-	2	238	c.192G>A	c.(190-192)ccG>ccA	p.P64P	MBP_ENST00000359645.3_Silent_p.P90P|MBP_ENST00000397875.3_Silent_p.P64P|MBP_ENST00000527041.1_Silent_p.P64P|MBP_ENST00000579129.1_Silent_p.P197P|MBP_ENST00000382582.3_Silent_p.P90P|MBP_ENST00000580402.1_Silent_p.P197P|MBP_ENST00000397866.4_Silent_p.P64P|MBP_ENST00000354542.4_Intron|MBP_ENST00000528160.1_Intron|MBP_ENST00000526111.1_Silent_p.P42P|MBP_ENST00000397865.5_Silent_p.P64P|MBP_ENST00000355994.2_Silent_p.P197P|MBP_ENST00000578193.1_Silent_p.P64P			P13727	PRG2_HUMAN	myelin basic protein	0					defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)	Sargramostim(DB00020)	CAGTTCTTGCCGGGTGGTGTG	0.572																																					NSCLC(17;72 1131 19392)	ENST00000355994.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(589-591)ccG>ccA		myelin basic protein		C	,,,,	1,4405	2.1+/-5.4	0,1,2202	117.0	105.0	109.0		270,192,192,591,270	-6.1	0.2	18		109	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MBP	NM_001025081.1,NM_001025090.1,NM_001025092.1,NM_001025101.1,NM_002385.2	,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,	90/198,64/172,64/161,197/305,90/187	74702002	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4155				central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath	g.chr18:74702002C>T		CCDS12011.1, CCDS32847.1, CCDS42448.1, CCDS42449.1, CCDS42450.1	18q23	2008-08-01			ENSG00000197971	ENSG00000197971			6925	protein-coding gene	gene with protein product		159430				2425357	Standard	XM_005266699		Approved		uc010xfd.2	P02686	OTTHUMG00000132874	ENST00000397869.3:c.192G>A	18.37:g.74702002C>T						MBP_ENST00000397865.5_Silent_p.P64P|MBP_ENST00000397866.4_Silent_p.P64P|MBP_ENST00000397869.3_Silent_p.P64P|MBP_ENST00000580402.1_Silent_p.P197P|MBP_ENST00000526111.1_Silent_p.P42P|MBP_ENST00000397875.3_Silent_p.P64P|MBP_ENST00000528160.1_Intron|MBP_ENST00000579129.1_Silent_p.P197P|MBP_ENST00000578193.1_Silent_p.P64P|MBP_ENST00000527041.1_Silent_p.P64P|MBP_ENST00000354542.4_Intron|MBP_ENST00000382582.3_Silent_p.P90P|MBP_ENST00000359645.3_Silent_p.P90P	p.P197P	NM_001025101.1	NP_001020272.1	P02686	MBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)	5	854	-		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	197			Induces experimental autoimmune encephalomyelitis (EAE) 1.		A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Silent	SNP	ENST00000397869.3	37	c.591G>A																																																																																					0.572	MBP-024	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000267964.1	NM_001025081		4	26	0	0	0	1	0	4	26				
PNKP	11284	broad.mit.edu	37	19	50370408	50370408	+	Silent	SNP	T	T	C			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr19:50370408T>C	ENST00000322344.3	-	2	163	c.54A>G	c.(52-54)ggA>ggG	p.G18G	PNKP_ENST00000600573.1_Silent_p.G18G|PNKP_ENST00000595792.1_5'UTR|PNKP_ENST00000600910.1_Silent_p.G18G|PNKP_ENST00000596014.1_Silent_p.G18G	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	18	FHA.			G -> E (in Ref. 1; AAD51135). {ECO:0000305}.	dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		TGGGGGGCGCTCCCCCAGGGG	0.711								Other BER factors																														ENST00000322344.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19						c.(52-54)ggA>ggG	Other BER factors	polynucleotide kinase 3'-phosphatase							13.0	16.0	15.0					19																	50370408		2177	4247	6424	SO:0001819	synonymous_variant	11284				DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding	g.chr19:50370408T>C	AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.54A>G	19.37:g.50370408T>C						PNKP_ENST00000595792.1_5'UTR|PNKP_ENST00000600910.1_Silent_p.G18G|PNKP_ENST00000596014.1_Silent_p.G18G|PNKP_ENST00000600573.1_Silent_p.G18G	p.G18G	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)	2	163	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	18	G -> E (in Ref. 1; AAD51135).				Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Silent	SNP	ENST00000322344.3	37	c.54A>G	CCDS12783.1																																																																																				0.711	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465830.1	NM_007254		5	21	0	0	0	1	0	5	21				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977358	29977358	+	RNA	SNP	T	T	C			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr6:29977358T>C	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		GATTTGTTCATGCCTTCCCTT	0.448																																						ENST00000376797.3																			0																																																			0							g.chr6:29977358T>C	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977358T>C						HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.448	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		7	52	0	0	0	1	0	7	52				
ALG1L	200810	broad.mit.edu	37	3	125647387	125647387	+	IGR	SNP	G	G	A			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr3:125647387G>A	ENST00000340333.3	-	0	805				FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like								transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						ACCAGAAACTGTTTCCCTATG	0.502																																						ENST00000485843.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr3:125647387G>A	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588		3.37:g.125647387G>A								NR_024251.1						0	532	+								D3DNA5	RNA	SNP	ENST00000340333.3	37		CCDS33840.1																																																																																				0.502	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		4	103	0	0	0	1	0	4	103				
ANK2	287	broad.mit.edu	37	4	114275609	114275609	+	Silent	SNP	G	G	A			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr4:114275609G>A	ENST00000357077.4	+	38	5888	c.5835G>A	c.(5833-5835)acG>acA	p.T1945T	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Silent_p.T1912T|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1945	Repeat-rich region.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCGGAAGAACGGACAAGCACC	0.532																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(5833-5835)acG>acA		ankyrin 2, neuronal							74.0	72.0	73.0					4																	114275609		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114275609G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.5835G>A	4.37:g.114275609G>A						ANK2_ENST00000264366.6_Silent_p.T1912T|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron	p.T1945T	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	5888	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1912			Repeat-rich region.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.5835G>A	CCDS3702.1																																																																																				0.532	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		26	57	0	0	0	1	0	26	57				
FBF1	85302	broad.mit.edu	37	17	73914270	73914270	+	Missense_Mutation	SNP	G	G	A	rs545829858		TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr17:73914270G>A	ENST00000586717.1	-	20	2450	c.2177C>T	c.(2176-2178)gCg>gTg	p.A726V	FBF1_ENST00000389570.4_Missense_Mutation_p.A726V|FBF1_ENST00000319129.5_Missense_Mutation_p.A725V			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	726					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						ACTGGTGGCCGCATCGACCTC	0.682																																						ENST00000586717.1																			0				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						c.(2176-2178)gCg>gTg		Fas (TNFRSF6) binding factor 1							29.0	38.0	35.0					17																	73914270		2100	4229	6329	SO:0001583	missense	85302							g.chr17:73914270G>A	AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"""albatross"""					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.2177C>T	17.37:g.73914270G>A	ENSP00000465132:p.Ala726Val					FBF1_ENST00000389570.4_Missense_Mutation_p.A726V|FBF1_ENST00000319129.5_Missense_Mutation_p.A725V	p.A726V			A6NLR5	A6NLR5_HUMAN			20	2450	-			725					B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000586717.1	37	c.2177C>T		.	.	.	.	.	.	.	.	.	.	G	23.9	4.471812	0.84533	.	.	ENSG00000188878	ENST00000337792;ENST00000389570;ENST00000319129;ENST00000427433	T;T	0.23348	1.92;1.91	5.19	5.19	0.71726	.	.	.	.	.	T	0.49490	0.1560	L	0.60455	1.87	0.54753	D	0.999981	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.914;1.0;0.998	T	0.48198	-0.9056	9	0.59425	D	0.04	-17.6854	18.304	0.90174	0.0:0.0:1.0:0.0	.	740;726;725	Q8TES7-6;Q8TES7;A6NLR5	.;FBF1_HUMAN;.	V	726;726;725;739	ENSP00000374221:A726V;ENSP00000324292:A725V	ENSP00000324292:A725V	A	-	2	0	FBF1	71425865	1.000000	0.71417	0.840000	0.33206	0.746000	0.42486	6.133000	0.71682	2.415000	0.81967	0.563000	0.77884	GCG		0.682	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000448945.2	NM_001080542		3	26	0	0	0	1	0	3	26				
HSD3B2	3284	broad.mit.edu	37	1	119964584	119964584	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr1:119964584T>C	ENST00000543831.1	+	4	709	c.460T>C	c.(460-462)Tac>Cac	p.Y154H	HSD3B2_ENST00000369416.3_Missense_Mutation_p.Y154H	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	154					androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	GCCCACTCCATACCCGTACAG	0.507																																						ENST00000543831.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27						c.(460-462)Tac>Cac		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	NADH(DB00157)|Trilostane(DB01108)						88.0	87.0	87.0					1																	119964584		2203	4300	6503	SO:0001583	missense	3284				androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:119964584T>C	BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5218	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 2"""	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.460T>C	1.37:g.119964584T>C	ENSP00000445122:p.Tyr154His					HSD3B2_ENST00000369416.3_Missense_Mutation_p.Y154H	p.Y154H	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	4	709	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	154					A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Missense_Mutation	SNP	ENST00000543831.1	37	c.460T>C	CCDS902.1	.	.	.	.	.	.	.	.	.	.	-	14.33	2.503486	0.44558	.	.	ENSG00000203859	ENST00000543831;ENST00000433745;ENST00000369416	D;D;D	0.96774	-4.12;-4.12;-4.12	3.98	3.98	0.46160	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98707	0.9566	H	0.98388	4.22	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99160	1.0861	9	.	.	.	-6.6302	12.0934	0.53739	0.0:0.0:0.0:1.0	.	154	P26439	3BHS2_HUMAN	H	154	ENSP00000445122:Y154H;ENSP00000388292:Y154H;ENSP00000358424:Y154H	.	Y	+	1	0	HSD3B2	119766107	1.000000	0.71417	0.695000	0.30226	0.005000	0.04900	5.316000	0.65815	1.463000	0.47967	0.248000	0.18094	TAC		0.507	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034994.1	NM_000198		59	110	0	0	0	1	0	59	110				
MAGEA12	4111	broad.mit.edu	37	X	151896589	151896589	+	IGR	SNP	C	C	A			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chrX:151896589C>A	ENST00000357916.4	-	0	1664				CSAG4_ENST00000361201.4_RNA	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12									p.L11F(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGTTGTTGGACAATGGGCTGG	0.557																																						ENST00000361201.4																			1	Substitution - Missense(1)	p.L11F(1)	kidney(1)	endometrium(2)|kidney(2)|lung(1)	5																																												SO:0001628	intergenic_variant	0							g.chrX:151896589C>A		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650		X.37:g.151896589C>A								NR_073432.1						0	351	-								Q9NSD3	RNA	SNP	ENST00000357916.4	37		CCDS14710.1																																																																																				0.557	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		3	59	1	0	0.00024832	1	0.000253286	3	59				
TBC1D9B	23061	broad.mit.edu	37	5	179296821	179296821	+	Silent	SNP	G	G	A			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr5:179296821G>A	ENST00000356834.3	-	17	2776	c.2739C>T	c.(2737-2739)caC>caT	p.H913H	TBC1D9B_ENST00000518085.1_5'Flank|TBC1D9B_ENST00000444477.2_Silent_p.H71H|TBC1D9B_ENST00000519746.1_Silent_p.H89H|TBC1D9B_ENST00000355235.3_Silent_p.H913H	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	913	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCAGGTCCCCGTGGTACATCC	0.637																																						ENST00000356834.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28						c.(2737-2739)caC>caT		TBC1 domain family, member 9B (with GRAM domain)							113.0	96.0	102.0					5																	179296821		2203	4300	6503	SO:0001819	synonymous_variant	23061					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	g.chr5:179296821G>A	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.2739C>T	5.37:g.179296821G>A						TBC1D9B_ENST00000444477.2_Silent_p.H71H|TBC1D9B_ENST00000355235.3_Silent_p.H913H|TBC1D9B_ENST00000519746.1_Silent_p.H89H	p.H913H	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		17	2776	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	913			EF-hand.		D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Silent	SNP	ENST00000356834.3	37	c.2739C>T	CCDS43408.1																																																																																				0.637	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		13	27	0	0	0	1	0	13	27				
TPTE2P6	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	C	G	rs3874227	byFrequency	TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr13:25161397C>G	ENST00000453498.1	+	0	921				TPTE2P6_ENST00000440905.1_RNA																							TGAAACATCTCTACAACTGGA	0.343																																						ENST00000453498.1																			0																																																			0							g.chr13:25161397C>G																													13.37:g.25161397C>G														0	921	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.343	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			4	48	0	0	0	1	0	4	48				
TRGV2	6974	broad.mit.edu	37	7	38402925	38402925	+	RNA	SNP	T	T	C	rs566882501	byFrequency	TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr7:38402925T>C	ENST00000426402.2	-	0	194									T cell receptor gamma variable 2																		TAGGGCCCACTGCATGCCTTC	0.507													T|||	3	0.000599042	0.0015	0.0	5008	,	,		20722	0.0		0.0	False		,,,				2504	0.001					ENST00000426402.2																			0																				81.0	79.0	79.0					7																	38402925		1899	4114	6013			0							g.chr7:38402925T>C	M13429		7p14	2012-02-07			ENSG00000233306	ENSG00000233306		"""T cell receptors / TRG locus"""	12287	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V2"""			TCRGV2		2938743, 2969332	Standard	NG_001336		Approved	VIS2			OTTHUMG00000155105		7.37:g.38402925T>C														0	194	-									RNA	SNP	ENST00000426402.2	37																																																																																						0.507	TRGV2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338419.4	NG_001336		4	65	0	0	0	1	0	4	65				
PRIM2	5558	broad.mit.edu	37	6	57372333	57372333	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr6:57372333C>A	ENST00000607273.1	+	8	826	c.739C>A	c.(739-741)Cag>Aag	p.Q247K	PRIM2_ENST00000389488.2_3'UTR	NM_000947.3	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	247					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TGAAAGACTTCAGCCTCTGCT	0.403																																						ENST00000607273.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59						c.(739-741)Cag>Aag		primase, DNA, polypeptide 2 (58kDa)							137.0	122.0	127.0					6																	57372333		1922	4151	6073	SO:0001583	missense	5558				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57372333C>A		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000607273.1:c.739C>A	6.37:g.57372333C>A	ENSP00000475738:p.Gln247Lys					PRIM2_ENST00000389488.2_3'UTR	p.Q247K	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	8	826	+			247					Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Missense_Mutation	SNP	ENST00000607273.1	37	c.739C>A																																																																																					0.403	PRIM2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000947		4	41	1	0	1.23904e-05	1	1.28961e-05	4	41				
NXPE4	54827	broad.mit.edu	37	11	114450926	114450926	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr11:114450926C>T	ENST00000375478.3	-	5	1207	c.1027G>A	c.(1027-1029)Gga>Aga	p.G343R	NXPE4_ENST00000424261.2_Missense_Mutation_p.G59R	NM_001077639.1	NP_001071107.1	Q6UWF7	NXPE4_HUMAN	neurexophilin and PC-esterase domain family, member 4	343						extracellular vesicular exosome (GO:0070062)											ATGAGTTTTCCTCTCAGGCAT	0.443																																						ENST00000375478.3																			0											c.(1027-1029)Gga>Aga		neurexophilin and PC-esterase domain family, member 4							203.0	192.0	195.0					11																	114450926		1876	4124	6000	SO:0001583	missense	54827							g.chr11:114450926C>T	AK000134	CCDS41718.1, CCDS44737.1	11q23.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000137634	ENSG00000137634			23117	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 33"", ""family with sequence similarity 55, member D"""	C11orf33, FAM55D		20056006	Standard	NM_017678		Approved	FLJ20127	uc001ppc.3	Q6UWF7	OTTHUMG00000168291	ENST00000375478.3:c.1027G>A	11.37:g.114450926C>T	ENSP00000364627:p.Gly343Arg					NXPE4_ENST00000424261.2_Missense_Mutation_p.G59R	p.G343R	NM_001077639.1	NP_001071107.1					5	1207	-								Q6QDB4|Q9NXP5	Missense_Mutation	SNP	ENST00000375478.3	37	c.1027G>A	CCDS41718.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.415986	0.62511	.	.	ENSG00000137634	ENST00000424261;ENST00000375478	T;T	0.21031	2.03;2.59	5.31	3.41	0.39046	.	0.098627	0.44285	D	0.000470	T	0.35068	0.0919	M	0.71036	2.16	0.33700	D	0.614397	P	0.51057	0.941	P	0.55011	0.766	T	0.49818	-0.8899	10	0.38643	T	0.18	.	10.3365	0.43852	0.0:0.8349:0.0:0.1651	.	343	Q6UWF7	FA55D_HUMAN	R	59;343	ENSP00000401503:G59R;ENSP00000364627:G343R	ENSP00000364627:G343R	G	-	1	0	FAM55D	113956136	0.345000	0.24835	0.577000	0.28562	0.240000	0.25518	0.680000	0.25306	0.699000	0.31761	0.655000	0.94253	GGA		0.443	NXPE4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399179.1	NM_017678		17	83	0	0	0	1	0	17	83				
KLK12	43849	broad.mit.edu	37	19	51534119	51534119	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr19:51534119G>T	ENST00000525263.1	-	4	635	c.516C>A	c.(514-516)tgC>tgA	p.C172*	KLK12_ENST00000529888.1_Missense_Mutation_p.P86T|CTC-518B2.9_ENST00000594910.1_RNA|KLK11_ENST00000319720.7_5'Flank|KLK12_ENST00000250351.4_Nonsense_Mutation_p.C172*|KLK12_ENST00000319590.4_Nonsense_Mutation_p.C172*|KLK12_ENST00000250352.11_Nonsense_Mutation_p.C62*|KLK11_ENST00000391804.3_5'Flank			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	172	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		ACACACCATGGCAGGTGGCAT	0.622																																						ENST00000250352.11																			0				endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12						c.(184-186)tgC>tgA		kallikrein-related peptidase 12							166.0	151.0	156.0					19																	51534119		2203	4300	6503	SO:0001587	stop_gained	43849				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity	g.chr19:51534119G>T		CCDS12820.1, CCDS12821.1, CCDS54298.1	19q13.33	2008-02-05	2006-10-27		ENSG00000186474	ENSG00000186474		"""Kallikreins"""	6360	protein-coding gene	gene with protein product		605539	"""kallikrein 12"""			16800724, 16800723	Standard	NM_019598		Approved	KLK-L5	uc002pvh.1	Q9UKR0	OTTHUMG00000165806	ENST00000525263.1:c.516C>A	19.37:g.51534119G>T	ENSP00000436458:p.Cys172*					KLK12_ENST00000319590.4_Nonsense_Mutation_p.C172*|KLK12_ENST00000250351.4_Nonsense_Mutation_p.C172*|CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000529888.1_Missense_Mutation_p.P86T|KLK12_ENST00000525263.1_Nonsense_Mutation_p.C172*	p.C62*			Q9UKR0	KLK12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)	4	859	-		all_neural(266;0.026)	172			Peptidase S1.		Q9UKR1|Q9UKR2	Nonsense_Mutation	SNP	ENST00000525263.1	37	c.186C>A	CCDS12821.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	37|37	6.435253|6.435253	0.97564|0.97564	.|.	.|.	ENSG00000186474|ENSG00000186474	ENST00000525263;ENST00000319590;ENST00000250352;ENST00000250351|ENST00000529888	.|D	.|0.82526	.|-1.62	4.53|4.53	2.34|2.34	0.29019|0.29019	.|.	0.000000|.	0.39020|.	N|.	0.001489|.	.|T	.|0.71871	.|0.3391	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|B	.|0.10296	.|0.003	.|B	.|0.11329	.|0.006	.|T	.|0.69224	.|-0.5201	.|7	0.02654|0.39692	T|T	1|0.17	.|.	6.6799|6.6799	0.23115|0.23115	0.2991:0.0:0.7009:0.0|0.2991:0.0:0.7009:0.0	.|.	.|86	.|Q9UKR2	.|.	X|T	172;172;62;172|86	.|ENSP00000434036:P86T	ENSP00000250351:C172X|ENSP00000434036:P86T	C|P	-|-	3|1	2|0	KLK12|KLK12	56225931|56225931	0.032000|0.032000	0.19561|0.19561	0.589000|0.589000	0.28718|0.28718	0.018000|0.018000	0.09664|0.09664	-0.014000|-0.014000	0.12656|0.12656	1.131000|1.131000	0.42111|0.42111	0.484000|0.484000	0.47621|0.47621	TGC|CCA		0.622	KLK12-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000386288.1	NM_019598		8	121	1	0	5.18039e-06	1	5.62128e-06	8	121				
CAPN5	726	broad.mit.edu	37	11	76823690	76823690	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr11:76823690C>T	ENST00000278559.3	+	4	542	c.353C>T	c.(352-354)gCg>gTg	p.A118V	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.A118V|CAPN5_ENST00000456580.2_Missense_Mutation_p.A158V	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	118	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						AACGCCTACGCGGGCATCTTC	0.612																																						ENST00000278559.3																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						c.(352-354)gCg>gTg		calpain 5							111.0	94.0	100.0					11																	76823690		2200	4292	6492	SO:0001583	missense	726				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	g.chr11:76823690C>T		CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"""vitreoretinopathy, neovascular inflammatory"""	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.353C>T	11.37:g.76823690C>T	ENSP00000278559:p.Ala118Val					CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.A118V|CAPN5_ENST00000456580.2_Missense_Mutation_p.A158V	p.A118V	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN			4	542	+			118			Calpain catalytic.		O00263	Missense_Mutation	SNP	ENST00000278559.3	37	c.353C>T	CCDS8248.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.579839	0.46006	.	.	ENSG00000149260	ENST00000278559;ENST00000530987;ENST00000360841;ENST00000529629;ENST00000456580;ENST00000544318	D;D;D	0.89196	-2.48;-2.48;-2.48	4.16	2.25	0.28309	Peptidase C2, calpain, catalytic domain (3);	0.111825	0.64402	D	0.000012	D	0.83982	0.5372	M	0.67569	2.06	0.26271	N	0.978425	B;B;B;P	0.35174	0.256;0.062;0.195;0.488	B;B;B;B	0.29524	0.064;0.066;0.103;0.044	T	0.76427	-0.2963	10	0.66056	D	0.02	.	7.1109	0.25390	0.0:0.6905:0.1424:0.1671	.	156;158;158;118	Q59GM2;E7EV01;Q6ZRM8;O15484	.;.;.;CAN5_HUMAN	V	118;87;158;118;158;158	ENSP00000278559:A118V;ENSP00000432332:A118V;ENSP00000409996:A158V	ENSP00000278559:A118V	A	+	2	0	CAPN5	76501338	0.994000	0.37717	0.083000	0.20561	0.954000	0.61252	3.139000	0.50577	0.393000	0.25203	-0.264000	0.10439	GCG		0.612	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382564.2	NM_004055		8	52	0	0	0	1	0	8	52				
AXL	558	broad.mit.edu	37	19	41758339	41758339	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr19:41758339A>G	ENST00000301178.4	+	15	1985	c.1795A>G	c.(1795-1797)Agg>Ggg	p.R599G	AXL_ENST00000593513.1_Missense_Mutation_p.R331G|AXL_ENST00000359092.3_Missense_Mutation_p.R590G	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	599	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CAACGTCATGAGGCTCATCGG	0.552																																						ENST00000301178.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						c.(1795-1797)Agg>Ggg		AXL receptor tyrosine kinase							125.0	111.0	115.0					19																	41758339		2203	4300	6503	SO:0001583	missense	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41758339A>G	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.1795A>G	19.37:g.41758339A>G	ENSP00000301178:p.Arg599Gly					AXL_ENST00000359092.3_Missense_Mutation_p.R590G|AXL_ENST00000593513.1_Missense_Mutation_p.R331G	p.R599G	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN			15	1985	+			599			Protein kinase.		Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	c.1795A>G	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	A	13.78	2.340617	0.41498	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.64085	-0.08;-0.08	4.47	2.29	0.28610	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.46112	0.1376	L	0.31294	0.92	0.45791	D	0.99867	P;P	0.40431	0.669;0.717	B;B	0.36186	0.139;0.219	T	0.39820	-0.9595	10	0.62326	D	0.03	-19.1156	10.313	0.43721	0.6831:0.3169:0.0:0.0	.	590;599	P30530-2;P30530	.;UFO_HUMAN	G	599;590	ENSP00000301178:R599G;ENSP00000351995:R590G	ENSP00000301178:R599G	R	+	1	2	AXL	46450179	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.240000	0.51368	0.215000	0.20761	-0.316000	0.08728	AGG		0.552	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			5	36	0	0	0	1	0	5	36				
SIPA1	6494	broad.mit.edu	37	11	65413798	65413798	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr11:65413798T>C	ENST00000394224.3	+	7	1666	c.1370T>C	c.(1369-1371)gTg>gCg	p.V457A	SIPA1_ENST00000394227.3_Missense_Mutation_p.V457A|MIR4489_ENST00000578869.1_RNA|SIPA1_ENST00000534313.1_Missense_Mutation_p.V457A|SIPA1_ENST00000527525.1_Missense_Mutation_p.V457A	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	457	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						TTCCAGCACGTGTTCCTAGTG	0.642																																						ENST00000394224.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(1369-1371)gTg>gCg		signal-induced proliferation-associated 1							107.0	92.0	97.0					11																	65413798		2201	4297	6498	SO:0001583	missense	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65413798T>C	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.1370T>C	11.37:g.65413798T>C	ENSP00000377771:p.Val457Ala					SIPA1_ENST00000527525.1_Missense_Mutation_p.V457A|SIPA1_ENST00000394227.3_Missense_Mutation_p.V457A|SIPA1_ENST00000534313.1_Missense_Mutation_p.V457A	p.V457A	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN			7	1666	+			457			Rap-GAP.		O14518|O60484|O60618|Q2YD83	Missense_Mutation	SNP	ENST00000394224.3	37	c.1370T>C	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	T	11.54	1.670553	0.29693	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	D;D;D;D	0.95103	-3.61;-3.61;-3.61;-3.61	4.03	2.87	0.33458	Rap/ran-GAP (2);	0.138572	0.27558	U	0.018822	D	0.92303	0.7558	M	0.64997	1.995	0.32777	N	0.503052	B;B	0.21905	0.062;0.006	B;B	0.28638	0.092;0.016	D	0.91513	0.5228	10	0.87932	D	0	-2.8496	8.965	0.35872	0.0:0.0:0.1881:0.8119	.	457;457	F6RY50;Q96FS4	.;SIPA1_HUMAN	A	457	ENSP00000436269:V457A;ENSP00000433686:V457A;ENSP00000377771:V457A;ENSP00000377774:V457A	ENSP00000377771:V457A	V	+	2	0	SIPA1	65170374	0.994000	0.37717	0.176000	0.23000	0.224000	0.24922	3.232000	0.51302	0.702000	0.31825	0.379000	0.24179	GTG		0.642	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		8	44	0	0	0	1	0	8	44				
RASSF9	9182	broad.mit.edu	37	12	86198925	86198925	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr12:86198925T>C	ENST00000361228.3	-	2	1231	c.863A>G	c.(862-864)gAa>gGa	p.E288G		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	288					endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TACCTCTTTTTCTATTTCAGC	0.398																																						ENST00000361228.3																			0				endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(862-864)gAa>gGa		Ras association (RalGDS/AF-6) domain family (N-terminal) member 9							128.0	124.0	125.0					12																	86198925		1847	4099	5946	SO:0001583	missense	9182				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	g.chr12:86198925T>C		CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"""peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"""	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.863A>G	12.37:g.86198925T>C	ENSP00000354884:p.Glu288Gly						p.E288G	NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN			2	1231	-			288					B3KMQ4|Q8N5U8	Missense_Mutation	SNP	ENST00000361228.3	37	c.863A>G	CCDS44950.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.938858	0.52972	.	.	ENSG00000198774	ENST00000361228	T	0.50001	0.76	4.9	4.9	0.64082	.	0.127443	0.50627	U	0.000120	T	0.51126	0.1656	L	0.56769	1.78	0.42852	D	0.994087	P	0.50369	0.934	P	0.46237	0.508	T	0.58691	-0.7592	10	0.66056	D	0.02	-23.6088	14.7987	0.69898	0.0:0.0:0.0:1.0	.	288	O75901	RASF9_HUMAN	G	288	ENSP00000354884:E288G	ENSP00000354884:E288G	E	-	2	0	RASSF9	84723056	0.927000	0.31430	0.996000	0.52242	0.988000	0.76386	3.978000	0.56881	1.958000	0.56883	0.528000	0.53228	GAA		0.398	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1			21	97	0	0	0	1	0	21	97				
ZNF300P1	134466	broad.mit.edu	37	5	150322149	150322149	+	RNA	SNP	A	A	G			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr5:150322149A>G	ENST00000520773.1	-	0	1335									zinc finger protein 300 pseudogene 1 (functional)																		CCAGCATCACATCCCTGTACA	0.502																																						ENST00000520773.1																			0																																																			0							g.chr5:150322149A>G	AK096536		5q33.1	2014-09-11	2014-01-16		ENSG00000197083	ENSG00000197083		"""-"""	27032	pseudogene	pseudogene			"""zinc finger protein 300 pseudogene 1"""			24393131	Standard	NR_026867		Approved		uc003lsz.1		OTTHUMG00000154830		5.37:g.150322149A>G														0	1335	-									RNA	SNP	ENST00000520773.1	37																																																																																						0.502	ZNF300P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000374771.1	NR_026867		12	57	0	0	0	1	0	12	57				
BMP4	652	broad.mit.edu	37	14	54416914	54416914	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr14:54416914C>T	ENST00000245451.4	-	4	1456	c.1063G>A	c.(1063-1065)Gcc>Acc	p.A355T	BMP4_ENST00000558984.1_Missense_Mutation_p.A355T|BMP4_ENST00000417573.1_Missense_Mutation_p.A355T|BMP4_ENST00000559087.1_Missense_Mutation_p.A355T|MIR5580_ENST00000580850.1_RNA	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	355					activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification (GO:0009948)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|BMP signaling pathway involved in nephric duct formation (GO:0071893)|BMP signaling pathway involved in renal system segmentation (GO:0061151)|BMP signaling pathway involved in ureter morphogenesis (GO:0061149)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchus development (GO:0060433)|bud dilation involved in lung branching (GO:0060503)|bud elongation involved in lung branching (GO:0060449)|cardiac septum development (GO:0003279)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte differentiation (GO:0002062)|cloacal septation (GO:0060197)|common-partner SMAD protein phosphorylation (GO:0007182)|cranial suture morphogenesis (GO:0060363)|deltoid tuberosity development (GO:0035993)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint morphogenesis (GO:0060272)|endocardial cushion development (GO:0003197)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in lung morphogenesis (GO:0060502)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal cell signaling (GO:0060684)|erythrocyte differentiation (GO:0030218)|extracellular matrix organization (GO:0030198)|germ cell development (GO:0007281)|glomerular capillary formation (GO:0072104)|glomerular visceral epithelial cell development (GO:0072015)|hematopoietic progenitor cell differentiation (GO:0002244)|inner ear receptor cell differentiation (GO:0060113)|intermediate mesodermal cell differentiation (GO:0048392)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|mammary gland formation (GO:0060592)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal cell proliferation involved in ureter development (GO:0072198)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate determination (GO:0007500)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway (GO:0072097)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of glomerulus development (GO:0090194)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell proliferation involved in ureter development (GO:0072200)|negative regulation of metanephric comma-shaped body morphogenesis (GO:2000007)|negative regulation of metanephric S-shaped body morphogenesis (GO:2000005)|negative regulation of mitosis (GO:0045839)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of cardiac muscle fiber development (GO:0055020)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell death (GO:0010942)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of kidney development (GO:0090184)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|pulmonary artery endothelial tube morphogenesis (GO:0061155)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|renal system process (GO:0003014)|secondary heart field specification (GO:0003139)|SMAD protein signal transduction (GO:0060395)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|specification of organ position (GO:0010159)|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway (GO:0072101)|steroid hormone mediated signaling pathway (GO:0043401)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|tendon cell differentiation (GO:0035990)|trachea development (GO:0060438)|trachea formation (GO:0060440)|type B pancreatic cell development (GO:0003323)|ureter epithelial cell differentiation (GO:0072192)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	BMP receptor binding (GO:0070700)|chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|heparin binding (GO:0008201)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						TGCACAATGGCATGGTTGGTT	0.547																																						ENST00000245451.4																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						c.(1063-1065)Gcc>Acc		bone morphogenetic protein 4							166.0	141.0	149.0					14																	54416914		2203	4300	6503	SO:0001583	missense	652				activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity	g.chr14:54416914C>T	AF035427	CCDS9715.1	14q22-q23	2014-01-30			ENSG00000125378	ENSG00000125378		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1071	protein-coding gene	gene with protein product		112262		BMP2B		7558046, 7579580	Standard	NM_001202		Approved		uc010aoh.3	P12644	OTTHUMG00000140303	ENST00000245451.4:c.1063G>A	14.37:g.54416914C>T	ENSP00000245451:p.Ala355Thr					BMP4_ENST00000559087.1_Missense_Mutation_p.A355T|BMP4_ENST00000558984.1_Missense_Mutation_p.A355T|BMP4_ENST00000417573.1_Missense_Mutation_p.A355T	p.A355T	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN			4	1456	-			355					Q9UM80	Missense_Mutation	SNP	ENST00000245451.4	37	c.1063G>A	CCDS9715.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613433	0.87359	.	.	ENSG00000125378	ENST00000245451;ENST00000417573	D;D	0.86497	-2.13;-2.13	5.53	5.53	0.82687	Transforming growth factor-beta, C-terminal (3);	0.048215	0.85682	D	0.000000	D	0.94268	0.8159	M	0.88979	2.995	0.80722	D	1	D	0.71674	0.998	D	0.64410	0.925	D	0.94723	0.7902	10	0.87932	D	0	.	18.6325	0.91364	0.0:1.0:0.0:0.0	.	355	P12644	BMP4_HUMAN	T	355	ENSP00000245451:A355T;ENSP00000394165:A355T	ENSP00000245451:A355T	A	-	1	0	BMP4	53486664	1.000000	0.71417	0.982000	0.44146	0.997000	0.91878	7.644000	0.83416	2.882000	0.98803	0.655000	0.94253	GCC		0.547	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276894.2	NM_001202		37	54	0	0	0	1	0	37	54				
KRT27	342574	broad.mit.edu	37	17	38936677	38936677	+	Missense_Mutation	SNP	C	C	T	rs116334559		TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr17:38936677C>T	ENST00000301656.3	-	3	599	c.559G>A	c.(559-561)Gtg>Atg	p.V187M	KRT27_ENST00000540723.1_5'Flank	NM_181537.3	NP_853515.2			keratin 27									p.V187M(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				TCCGCCTCCACGCTCTGGTGA	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		15935	0.001		0.0	False		,,,				2504	0.0					ENST00000301656.3																			1	Substitution - Missense(1)	p.V187M(1)	lung(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21						c.(559-561)Gtg>Atg		keratin 27							69.0	62.0	64.0					17																	38936677		2203	4300	6503	SO:0001583	missense	342574					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38936677C>T	AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30841	protein-coding gene	gene with protein product			"""keratin 25C"""	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.559G>A	17.37:g.38936677C>T	ENSP00000301656:p.Val187Met						p.V187M	NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN			3	599	-		Breast(137;0.000812)	187			Coil 1B.|Rod.			Missense_Mutation	SNP	ENST00000301656.3	37	c.559G>A	CCDS11375.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	23.7	4.445608	0.84101	.	.	ENSG00000171446	ENST00000301656	D	0.82984	-1.67	5.5	5.5	0.81552	Filament (1);	0.000000	0.56097	D	0.000028	D	0.89787	0.6816	M	0.85945	2.785	0.58432	D	0.999999	D	0.56746	0.977	P	0.53006	0.715	D	0.91278	0.5049	10	0.87932	D	0	.	18.7454	0.91791	0.0:1.0:0.0:0.0	.	187	Q7Z3Y8	K1C27_HUMAN	M	187	ENSP00000301656:V187M	ENSP00000301656:V187M	V	-	1	0	KRT27	36190203	1.000000	0.71417	0.998000	0.56505	0.581000	0.36288	6.052000	0.71080	2.743000	0.94032	0.655000	0.94253	GTG		0.468	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		7	20	0	0	0	1	0	7	20				
IGHJ6	28475	broad.mit.edu	37	14	106330052	106330052	+	RNA	SNP	G	G	A			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr14:106330052G>A	ENST00000390560.2	-	0	0				IGHJ3_ENST00000463911.1_RNA|IGHJ2_ENST00000390564.2_RNA|IGHJ5_ENST00000488476.1_RNA|IGHJ1_ENST00000390565.1_RNA|IGHJ4_ENST00000461719.1_RNA|IGHD7-27_ENST00000439842.1_RNA					immunoglobulin heavy joining 6																		GGGTTCCCTGGCCCCAGGGGT	0.617																																						ENST00000488476.1																			0																																																			0							g.chr14:106330052G>A	J00256		14q32.33	2012-02-08			ENSG00000211900	ENSG00000211900		"""Immunoglobulins / IGH locus"""	5540	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152455		14.37:g.106330052G>A														0	20	-									RNA	SNP	ENST00000390560.2	37																																																																																						0.617	IGHJ6-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	IG_J_gene	IG_J_gene	OTTHUMT00000326277.1	NG_001019		3	8	0	0	0	1	0	3	8				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977359	29977359	+	RNA	SNP	G	G	A	rs367861986|rs3831361|rs370297731	byFrequency	TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr6:29977359G>A	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		ATTTGTTCATGCCTTCCCTTT	0.453																																						ENST00000376797.3																			0																																																			0							g.chr6:29977359G>A	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977359G>A						HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.453	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		7	50	0	0	0	1	0	7	50				
MMEL1	79258	broad.mit.edu	37	1	2537012	2537012	+	Silent	SNP	G	G	A			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr1:2537012G>A	ENST00000378412.3	-	9	962	c.801C>T	c.(799-801)ggC>ggT	p.G267G	MMEL1_ENST00000288709.6_Silent_p.G258G|MMEL1_ENST00000502556.1_Intron			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	267						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GGTTGCTGCCGCCGTTGAAGT	0.652																																						ENST00000288709.6																			0				cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27						c.(772-774)ggC>ggT		membrane metallo-endopeptidase-like 1							65.0	68.0	67.0					1																	2537012		2203	4300	6503	SO:0001819	synonymous_variant	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2537012G>A	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.801C>T	1.37:g.2537012G>A						MMEL1_ENST00000502556.1_Intron|MMEL1_ENST00000378412.3_Silent_p.G267G	p.G258G	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	9	1014	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	267					B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Silent	SNP	ENST00000378412.3	37	c.774C>T	CCDS30569.2																																																																																				0.652	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		4	45	0	0	0	1	0	4	45				
ALG1L	200810	broad.mit.edu	37	3	125647396	125647396	+	IGR	SNP	T	T	C			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr3:125647396T>C	ENST00000340333.3	-	0	805				FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like								transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						TGTTTCCCTATGAAGAGCACT	0.502																																						ENST00000485843.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr3:125647396T>C	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588		3.37:g.125647396T>C								NR_024251.1						0	541	+								D3DNA5	RNA	SNP	ENST00000340333.3	37		CCDS33840.1																																																																																				0.502	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		4	110	0	0	0	1	0	4	110				
PRDM10	56980	broad.mit.edu	37	11	129775615	129775615	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr11:129775615G>A	ENST00000360871.3	-	20	3416	c.3185C>T	c.(3184-3186)aCg>aTg	p.T1062M	PRDM10_ENST00000423662.2_Missense_Mutation_p.T967M|PRDM10_ENST00000528746.1_Missense_Mutation_p.T1023M|PRDM10_ENST00000304538.6_Missense_Mutation_p.T929M|PRDM10_ENST00000358825.5_Missense_Mutation_p.T1066M|PRDM10_ENST00000526082.1_Missense_Mutation_p.T980M	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	1053					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CGGAGGAAGCGTCATCATTTG	0.433																																						ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(3196-3198)aCg>aTg		PR domain containing 10							120.0	104.0	110.0					11																	129775615		2201	4297	6498	SO:0001583	missense	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129775615G>A	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.3185C>T	11.37:g.129775615G>A	ENSP00000354118:p.Thr1062Met					PRDM10_ENST00000304538.6_Missense_Mutation_p.T929M|PRDM10_ENST00000360871.3_Missense_Mutation_p.T1062M|PRDM10_ENST00000526082.1_Missense_Mutation_p.T980M|PRDM10_ENST00000423662.2_Missense_Mutation_p.T967M|PRDM10_ENST00000528746.1_Missense_Mutation_p.T1023M	p.T1066M	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	21	3428	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	1053					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	c.3197C>T	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617358	0.87359	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.15487	2.59;2.42;2.59;2.6;2.66;2.58;2.68	5.99	5.99	0.97316	.	0.106801	0.64402	D	0.000007	T	0.25419	0.0618	N	0.24115	0.695	0.46437	D	0.99904	D;D;D;D;D;D	0.76494	0.998;0.997;0.995;0.999;0.999;0.997	P;P;P;P;P;P	0.54431	0.569;0.752;0.569;0.752;0.752;0.752	T	0.00802	-1.1560	10	0.87932	D	0	-19.5397	20.4777	0.99188	0.0:0.0:1.0:0.0	.	976;1062;1053;980;929;967	B7ZL72;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;PRD10_HUMAN;.;.;.	M	1066;929;1062;967;1023;980;779	ENSP00000351686:T1066M;ENSP00000302669:T929M;ENSP00000354118:T1062M;ENSP00000398431:T967M;ENSP00000431262:T1023M;ENSP00000432237:T980M;ENSP00000435940:T779M	ENSP00000302669:T929M	T	-	2	0	PRDM10	129280825	1.000000	0.71417	0.975000	0.42487	0.830000	0.47004	9.400000	0.97290	2.840000	0.97914	0.655000	0.94253	ACG		0.433	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		11	38	0	0	0	1	0	11	38				
SLC12A5	57468	broad.mit.edu	37	20	44669099	44669099	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr20:44669099G>A	ENST00000454036.2	+	7	818	c.769G>A	c.(769-771)Ggc>Agc	p.G257S	SLC12A5_ENST00000372315.1_Missense_Mutation_p.G234S|SLC12A5_ENST00000243964.3_Missense_Mutation_p.G234S	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	257					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCGTGTTTACGGCACCTGTGT	0.542																																						ENST00000454036.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(769-771)Ggc>Agc		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						369.0	283.0	312.0					20																	44669099		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44669099G>A	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.769G>A	20.37:g.44669099G>A	ENSP00000387694:p.Gly257Ser					SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000372315.1_Missense_Mutation_p.G234S|SLC12A5_ENST00000243964.3_Missense_Mutation_p.G234S	p.G257S	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			7	845	+		Myeloproliferative disorder(115;0.0122)	257					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.769G>A	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.960801	0.92791	.	.	ENSG00000124140	ENST00000454036;ENST00000372315;ENST00000243964	D;D;D	0.99014	-5.33;-5.33;-5.33	4.96	4.96	0.65561	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99196	0.9721	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.992;0.988	D	0.99383	1.0923	10	0.54805	T	0.06	.	17.3986	0.87453	0.0:0.0:1.0:0.0	.	257;234;234	Q9H2X9;Q9H2X9-2;A8K143	S12A5_HUMAN;.;.	S	257;234;234	ENSP00000387694:G257S;ENSP00000361389:G234S;ENSP00000243964:G234S	ENSP00000243964:G234S	G	+	1	0	SLC12A5	44102506	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.657000	0.98554	2.572000	0.86782	0.655000	0.94253	GGC		0.542	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			35	121	0	0	0	1	0	35	121				
MFGE8	4240	broad.mit.edu	37	15	89442668	89442668	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr15:89442668C>T	ENST00000566497.1	-	8	1183	c.1122G>A	c.(1120-1122)tgG>tgA	p.W374*	MFGE8_ENST00000542878.1_Nonsense_Mutation_p.W330*|MFGE8_ENST00000268151.7_Nonsense_Mutation_p.W322*|MFGE8_ENST00000268150.8_Nonsense_Mutation_p.W374*|MFGE8_ENST00000539437.1_Nonsense_Mutation_p.W366*			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	374	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of apoptotic cell clearance (GO:2000427)|single fertilization (GO:0007338)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|vesicle (GO:0031982)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					TGCGGTTGTGCCAGGCTACAG	0.607																																						ENST00000539437.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22						c.(1096-1098)tgG>tgA		milk fat globule-EGF factor 8 protein							155.0	136.0	142.0					15																	89442668		2200	4299	6499	SO:0001587	stop_gained	4240				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization			g.chr15:89442668C>T	U58516	CCDS10347.1, CCDS45345.1	15q25	2009-03-25			ENSG00000140545	ENSG00000140545			7036	protein-coding gene	gene with protein product	"""sperm surface protein hP47"""	602281	"""sperm associated antigen 10"""	SPAG10		9027496, 19204935	Standard	NM_005928		Approved	SED1, EDIL1, BA46, OAcGD3S, HsT19888, MFG-E8, hP47	uc002bng.4	Q08431	OTTHUMG00000148682	ENST00000566497.1:c.1122G>A	15.37:g.89442668C>T	ENSP00000456281:p.Trp374*					MFGE8_ENST00000268151.7_Nonsense_Mutation_p.W322*|MFGE8_ENST00000268150.8_Nonsense_Mutation_p.W374*|MFGE8_ENST00000542878.1_Nonsense_Mutation_p.W330*|MFGE8_ENST00000566497.1_Nonsense_Mutation_p.W374*	p.W366*			Q08431	MFGM_HUMAN			9	1234	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		374			F5/8 type C 2.		B2R6M7|Q53FU9|Q7Z3D2|Q9BTL9	Nonsense_Mutation	SNP	ENST00000566497.1	37	c.1098G>A	CCDS10347.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122262	0.94429	.	.	ENSG00000140545	ENST00000268150;ENST00000268151;ENST00000539437;ENST00000542878	.	.	.	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.4245	16.6472	0.85179	0.0:1.0:0.0:0.0	.	.	.	.	X	374;322;366;330	.	ENSP00000268150:W374X	W	-	3	0	MFGE8	87243672	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	7.661000	0.83786	2.272000	0.75746	0.555000	0.69702	TGG		0.607	MFGE8-015	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000432804.1	NM_005928		4	99	0	0	0	1	0	4	99				
RANBP2	5903	broad.mit.edu	37	2	109347896	109347897	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr2:109347896_109347897delTT	ENST00000283195.6	+	4	497_498	c.371_372delTT	c.(370-372)cttfs	p.L124fs		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	124					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)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GCAGCCAAACTTTTCCCAGGAA	0.322																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(370-372)cfs		RAN binding protein 2																																				SO:0001589	frameshift_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109347896_109347897delTT	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.371_372delTT	2.37:g.109347898_109347899delTT	ENSP00000283195:p.Leu124fs						p.L124fs	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			4	497_498	+			124					Q13074|Q15280|Q53TE2|Q59FH7	Frame_Shift_Del	DEL	ENST00000283195.6	37	c.371_372delTT	CCDS2079.1																																																																																				0.322	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		26	215						26	215	---	---	---	---
IFNB1	3456	broad.mit.edu	37	9	21077860	21077860	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr9:21077860delG	ENST00000380232.2	-	1	83	c.9delC	c.(7-9)aacfs	p.N3fs		NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast	3					adaptive immune response (GO:0002250)|B cell activation involved in immune response (GO:0002312)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of T-helper 2 cell cytokine production (GO:2000552)|negative regulation of viral genome replication (GO:0045071)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of innate immune response (GO:0045089)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)		GGAGACACTTGTTGGTCATGT	0.458																																						ENST00000380232.2																			0				breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12						c.(7-9)aafs		interferon, beta 1, fibroblast	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)						37.0	36.0	37.0					9																	21077860		2203	4299	6502	SO:0001589	frameshift_variant	3456				activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity	g.chr9:21077860delG		CCDS6495.1	9p22	2008-07-21			ENSG00000171855	ENSG00000171855		"""Interferons"""	5434	protein-coding gene	gene with protein product		147640		IFNB			Standard	NM_002176		Approved	IFB, IFF	uc003zok.3	P01574	OTTHUMG00000019652	ENST00000380232.2:c.9delC	9.37:g.21077860delG	ENSP00000369581:p.Asn3fs						p.N3fs	NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN		GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	1	83	-			3					Q5VWC9	Frame_Shift_Del	DEL	ENST00000380232.2	37	c.9delC	CCDS6495.1																																																																																				0.458	IFNB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051881.1	NM_002176		7	32						7	32	---	---	---	---
HSPA5	3309	broad.mit.edu	37	9	128003114	128003115	+	Frame_Shift_Del	DEL	AT	AT	-	rs377512653		TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr9:128003114_128003115delAT	ENST00000324460.6	-	2	397_398	c.194_195delAT	c.(193-195)tatfs	p.Y65fs	RP11-65N13.8_ENST00000468244.1_RNA	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	65					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	TGAAGGCGACATAGGACGGCGT	0.599										Prostate(1;0.17)																												ENST00000324460.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23						c.(193-195)tfs		heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	Antihemophilic Factor(DB00025)																																			SO:0001589	frameshift_variant	3309				anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding	g.chr9:128003114_128003115delAT		CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"""Heat shock proteins / HSP70"""	5238	protein-coding gene	gene with protein product		138120	"""heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"""	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.194_195delAT	9.37:g.128003114_128003115delAT	ENSP00000324173:p.Tyr65fs	Prostate(1;0.17)					p.Y65fs	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN			2	397_398	-			65					B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Frame_Shift_Del	DEL	ENST00000324460.6	37	c.194_195delAT	CCDS6863.1																																																																																				0.599	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1			26	60						26	60	---	---	---	---
NPIPB11	728888	broad.mit.edu	37	16	29394767	29394769	+	In_Frame_Del	DEL	TAT	TAT	-	rs373290715		TCGA-KK-A8I4-01A-11D-A364-08	TCGA-KK-A8I4-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9dce7b79-9898-4034-bf5a-463e3eba9f39	7b5c45f2-39e1-4da3-af33-4b8f35de09c7	g.chr16:29394767_29394769delTAT	ENST00000524087.1	-	8	1558_1560	c.1484_1486delATA	c.(1483-1488)aatatc>atc	p.N495del	SNX29P2_ENST00000398878.3_lincRNA			E5RHQ5	NPB11_HUMAN	nuclear pore complex interacting protein family, member B11	495	Pro-rich.					integral component of membrane (GO:0016021)											GGTGTCTTGATATTATCATCTGC	0.586																																						ENST00000524087.1																			0											c.(1483-1488)atc>a		nuclear pore complex interacting protein family, member B11																																				SO:0001651	inframe_deletion	728888							g.chr16:29394767_29394769delTAT			16p11.2	2013-06-11			ENSG00000254206	ENSG00000254206			37453	protein-coding gene	gene with protein product							Standard	XM_006721110		Approved			E5RHQ5	OTTHUMG00000170467	ENST00000524087.1:c.1484_1486delATA	16.37:g.29394770_29394772delTAT	ENSP00000430853:p.Asn495del					SNX29P2_ENST00000398878.3_lincRNA	p.NI495del							8	1558_1560	-									In_Frame_Del	DEL	ENST00000524087.1	37	c.1484_1486delATA																																																																																					0.586	NPIPB11-001	PUTATIVE	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000374094.1	XM_002343430		3	5						3	5	---	---	---	---
