#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
OR4A5	81318	broad.mit.edu	37	11	51411626	51411626	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr11:51411626C>G	ENST00000319760.6	-	1	822	c.770G>C	c.(769-771)aGa>aCa	p.R257T		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TGAAACAGGTCTAACATATAT	0.388																																						ENST00000319760.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49						c.(769-771)aGa>aCa		olfactory receptor, family 4, subfamily A, member 5							52.0	52.0	52.0					11																	51411626		2201	4296	6497	SO:0001583	missense	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51411626C>G	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.770G>C	11.37:g.51411626C>G	ENSP00000367664:p.Arg257Thr						p.R257T	NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN			1	822	-		all_lung(304;0.236)	257					Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	c.770G>C	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	8.129	0.782715	0.16189	.	.	ENSG00000221840	ENST00000319760	T	0.37584	1.19	2.2	2.2	0.27929	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000084	T	0.55940	0.1952	M	0.85299	2.745	0.20563	N	0.999888	D	0.89917	1.0	D	0.80764	0.994	T	0.41288	-0.9517	10	0.87932	D	0	.	4.8929	0.13735	0.0:0.8206:0.0:0.1794	.	257	Q8NH83	OR4A5_HUMAN	T	257	ENSP00000367664:R257T	ENSP00000367664:R257T	R	-	2	0	OR4A5	51268202	0.000000	0.05858	0.695000	0.30226	0.053000	0.15095	-0.078000	0.11375	1.554000	0.49487	0.162000	0.16502	AGA		0.388	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		14	25	0	0	0	1	0	14	25				
SUMF1	285362	broad.mit.edu	37	3	4452611	4452611	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr3:4452611C>T	ENST00000272902.5	-	7	927	c.892G>A	c.(892-894)Gca>Aca	p.A298T	SUMF1_ENST00000534863.1_Missense_Mutation_p.A298T|SUMF1_ENST00000458465.2_Missense_Mutation_p.A166T|SUMF1_ENST00000405420.2_Missense_Mutation_p.A298T|SUMF1_ENST00000383843.5_Missense_Mutation_p.A273T	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	298					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		CATTCCCATGCGTTCCCCACT	0.423																																						ENST00000272902.5																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13						c.(892-894)Gca>Aca		sulfatase modifying factor 1							199.0	177.0	185.0					3																	4452611		2203	4300	6503	SO:0001583	missense	285362					endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity	g.chr3:4452611C>T	BC017005	CCDS2564.1, CCDS54548.1, CCDS54549.1	3p26.1	2009-07-23			ENSG00000144455	ENSG00000144455			20376	protein-coding gene	gene with protein product		607939				12757705, 12757706	Standard	NM_182760		Approved	FGE, UNQ3037	uc003bpz.2	Q8NBK3	OTTHUMG00000090269	ENST00000272902.5:c.892G>A	3.37:g.4452611C>T	ENSP00000272902:p.Ala298Thr					SUMF1_ENST00000458465.2_Missense_Mutation_p.A166T|SUMF1_ENST00000405420.2_Missense_Mutation_p.A298T|SUMF1_ENST00000383843.5_Missense_Mutation_p.A273T|SUMF1_ENST00000534863.1_Missense_Mutation_p.A298T	p.A298T	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)	7	927	-		Melanoma(143;0.068)|Colorectal(144;0.233)	298					B4DXK5|B7XD05|E9PGL0|G5E9B0|Q0VAC6|Q0VAC7|Q2NL78|Q53ZE4|Q6UY39|Q96AK5|Q96DK8	Missense_Mutation	SNP	ENST00000272902.5	37	c.892G>A	CCDS2564.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130332	0.37630	.	.	ENSG00000144455	ENST00000534982;ENST00000534863;ENST00000272902;ENST00000383843;ENST00000458465;ENST00000405420	D;D;D;D;D	0.97731	-4.51;-4.51;-4.51;-3.44;-4.51	5.42	5.42	0.78866	C-type lectin fold (1);Formylglycine-generating sulphatase enzyme domain (2);	0.253406	0.45126	D	0.000394	D	0.97536	0.9193	L	0.55743	1.74	0.41894	D	0.990384	D;B;P;P	0.53885	0.963;0.234;0.942;0.646	P;B;P;B	0.52909	0.467;0.076;0.713;0.189	D	0.98198	1.0466	10	0.59425	D	0.04	-33.5749	17.9951	0.89181	0.0:1.0:0.0:0.0	.	166;273;298;298	E9PF05;G5E9B0;E9PGL0;Q8NBK3	.;.;.;SUMF1_HUMAN	T	298;298;298;273;166;298	ENSP00000440421:A298T;ENSP00000272902:A298T;ENSP00000373355:A273T;ENSP00000410060:A166T;ENSP00000384977:A298T	ENSP00000272902:A298T	A	-	1	0	SUMF1	4427611	0.981000	0.34729	0.007000	0.13788	0.023000	0.10783	6.955000	0.76007	2.544000	0.85801	0.561000	0.74099	GCA		0.423	SUMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206591.2	NM_182760		17	81	0	0	0	1	0	17	81				
COL5A1	1289	broad.mit.edu	37	9	137591840	137591840	+	Silent	SNP	C	C	T	rs369180922		TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr9:137591840C>T	ENST00000371817.3	+	3	777	c.363C>T	c.(361-363)aaC>aaT	p.N121N	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	121	Laminin G-like.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCATCTACAACGAGCAGGGTA	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		19502	0.001		0.0	False		,,,				2504	0.0					ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(361-363)aaC>aaT		collagen, type V, alpha 1		C		0,4406		0,0,2203	91.0	91.0	91.0		363	-7.5	0.9	9		91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	COL5A1	NM_000093.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		121/1839	137591840	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137591840C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.363C>T	9.37:g.137591840C>T						COL5A1_ENST00000464187.1_3'UTR	p.N121N	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	3	777	+		Myeloproliferative disorder(178;0.0341)	121			Laminin G-like.|TSP N-terminal.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.363C>T	CCDS6982.1																																																																																				0.587	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		16	31	0	0	0	1	0	16	31				
MUC16	94025	broad.mit.edu	37	19	9072126	9072126	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr19:9072126G>C	ENST00000397910.4	-	3	15523	c.15320C>G	c.(15319-15321)aCt>aGt	p.T5107S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5109	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T5107N(2)|p.T740N(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCTTTAGAAGTGGCCAGTAT	0.423																																						ENST00000397910.4																			3	Substitution - Missense(3)	p.T5107N(2)|p.T740N(1)	lung(3)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(15319-15321)aCt>aGt		mucin 16, cell surface associated							149.0	136.0	140.0					19																	9072126		1913	4135	6048	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9072126G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.15320C>G	19.37:g.9072126G>C	ENSP00000381008:p.Thr5107Ser						p.T5107S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	15523	-			5109			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.15320C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	2.306	-0.359131	0.05138	.	.	ENSG00000181143	ENST00000397910	T	0.26223	1.75	1.71	-0.994	0.10225	.	.	.	.	.	T	0.21468	0.0517	L	0.58101	1.795	.	.	.	B	0.19817	0.039	B	0.17979	0.02	T	0.29058	-1.0024	8	0.87932	D	0	.	3.9862	0.09517	0.0:0.2603:0.475:0.2647	.	5107	B5ME49	.	S	5107	ENSP00000381008:T5107S	ENSP00000381008:T5107S	T	-	2	0	MUC16	8933126	0.000000	0.05858	0.000000	0.03702	0.518000	0.34316	-0.509000	0.06336	-0.104000	0.12154	0.109000	0.15622	ACT		0.423	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		13	58	0	0	0	1	0	13	58				
ZFAND4	93550	broad.mit.edu	37	10	46111991	46111991	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr10:46111991G>A	ENST00000344646.5	-	10	2292	c.2077C>T	c.(2077-2079)Cgt>Tgt	p.R693C	ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374371.2_3'UTR|ZFAND4_ENST00000374366.3_Missense_Mutation_p.R619C	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	693							zinc ion binding (GO:0008270)										TCTGCATAACGATGAGATGCA	0.423																																						ENST00000374366.3																			0											c.(1855-1857)Cgt>Tgt		zinc finger, AN1-type domain 4							165.0	144.0	151.0					10																	46111991		2203	4300	6503	SO:0001583	missense	93550						zinc ion binding	g.chr10:46111991G>A	AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"""Zinc fingers, AN1-type domain containing"""	23504	protein-coding gene	gene with protein product			"""AN1, ubiquitin-like, homolog (Xenopus laevis)"""	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.2077C>T	10.37:g.46111991G>A	ENSP00000339484:p.Arg693Cys					ZFAND4_ENST00000374371.2_3'UTR|ZFAND4_ENST00000344646.5_Missense_Mutation_p.R693C|ZFAND4_ENST00000374370.1_5'UTR	p.R619C			Q86XD8	ANUB1_HUMAN			11	2320	-			693					A8K8V4|B2RAX2|Q5VVY5	Missense_Mutation	SNP	ENST00000344646.5	37	c.1855C>T	CCDS7214.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.687467	0.88639	.	.	ENSG00000172671	ENST00000344646;ENST00000374366;ENST00000374370	T;T	0.60548	0.18;0.18	5.86	5.86	0.93980	Zinc finger, AN1-type (4);	0.157574	0.41294	D	0.000918	D	0.82742	0.5103	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86586	0.1857	10	0.87932	D	0	-8.8451	17.6957	0.88281	0.0:0.0:1.0:0.0	.	693	Q86XD8	ANUB1_HUMAN	C	693;619;575	ENSP00000339484:R693C;ENSP00000363486:R619C	ENSP00000339484:R693C	R	-	1	0	ANUBL1	45431997	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.430000	0.97488	2.776000	0.95493	0.655000	0.94253	CGT		0.423	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047790.1	NM_174890		13	61	0	0	0	1	0	13	61				
C2orf16	84226	broad.mit.edu	37	2	27804618	27804618	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr2:27804618C>T	ENST00000408964.2	+	1	5230	c.5179C>T	c.(5179-5181)Cgc>Tgc	p.R1727C	ZNF512_ENST00000413371.2_5'Flank|AC074091.1_ENST00000408604.1_RNA|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000556601.1_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1727	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GAGGAGCCATCGCAGTCCCTC	0.562																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(5179-5181)Cgc>Tgc		chromosome 2 open reading frame 16							174.0	180.0	178.0					2																	27804618		1937	4136	6073	SO:0001583	missense	84226							g.chr2:27804618C>T	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5179C>T	2.37:g.27804618C>T	ENSP00000386190:p.Arg1727Cys						p.R1727C	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	5230	+	Acute lymphoblastic leukemia(172;0.155)		1727			27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.		B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.5179C>T	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517481	0.44763	.	.	ENSG00000221843	ENST00000408964	T	0.05513	3.43	3.95	3.95	0.45737	.	.	.	.	.	T	0.12603	0.0306	L	0.39898	1.24	0.09310	N	1	D	0.71674	0.998	P	0.53649	0.731	T	0.07385	-1.0775	9	0.66056	D	0.02	.	14.296	0.66314	0.0:1.0:0.0:0.0	.	1727	Q68DN1	CB016_HUMAN	C	1727	ENSP00000386190:R1727C	ENSP00000386190:R1727C	R	+	1	0	C2orf16	27658122	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	-0.313000	0.08103	2.491000	0.84063	0.462000	0.41574	CGC		0.562	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		82	112	0	0	0	1	0	82	112				
ABCC9	10060	broad.mit.edu	37	12	22086787	22086787	+	Silent	SNP	C	C	A			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr12:22086787C>A	ENST00000261201.4	-	2	212	c.213G>T	c.(211-213)ctG>ctT	p.L71L	ABCC9_ENST00000326684.4_Silent_p.L71L|ABCC9_ENST00000345162.2_Silent_p.L71L|ABCC9_ENST00000538350.1_Silent_p.L71L|ABCC9_ENST00000261200.4_Silent_p.L71L	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	71					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	GAATCCATCTCAGGTTATGTC	0.398																																						ENST00000261200.4																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(211-213)ctG>ctT		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						199.0	170.0	180.0					12																	22086787		2203	4300	6503	SO:0001819	synonymous_variant	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22086787C>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.213G>T	12.37:g.22086787C>A						ABCC9_ENST00000345162.2_Silent_p.L71L|ABCC9_ENST00000261201.4_Silent_p.L71L|ABCC9_ENST00000326684.4_Silent_p.L71L|ABCC9_ENST00000538350.1_Silent_p.L71L	p.L71L	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			2	212	-			71					O60707	Silent	SNP	ENST00000261201.4	37	c.213G>T	CCDS8694.1																																																																																				0.398	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		5	69	1	0	2.7689e-08	1	2.92272e-08	5	69				
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs10902490|rs528214697	byFrequency	TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000332482.4_Silent_p.Q2690Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567																																						ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8287-8289)caA>caG		E1A binding protein p400							25.0	29.0	28.0					12																	132547093		2173	4217	6390	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8289A>G	12.37:g.132547093A>G						EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000332482.4_Silent_p.Q2690Q	p.Q2763Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8289A>G																																																																																					0.567	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		7	36	0	0	0	1	0	7	36				
FBLN1	2192	broad.mit.edu	37	22	45937118	45937118	+	Missense_Mutation	SNP	A	A	T			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr22:45937118A>T	ENST00000327858.6	+	9	1027	c.932A>T	c.(931-933)gAg>gTg	p.E311V	FBLN1_ENST00000348697.2_Missense_Mutation_p.E311V|FBLN1_ENST00000402984.3_Missense_Mutation_p.E349V|FBLN1_ENST00000476366.1_3'UTR|FBLN1_ENST00000262722.7_Missense_Mutation_p.E311V|FBLN1_ENST00000340923.5_Missense_Mutation_p.E311V|FBLN1_ENST00000442170.2_Missense_Mutation_p.E311V	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	311	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GATATCAATGAGTGTTTGAGT	0.527																																						ENST00000348697.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30						c.(931-933)gAg>gTg		fibulin 1							161.0	130.0	141.0					22																	45937118		2203	4300	6503	SO:0001583	missense	2192				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr22:45937118A>T		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"""Fibulins"""	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.932A>T	22.37:g.45937118A>T	ENSP00000331544:p.Glu311Val					FBLN1_ENST00000340923.5_Missense_Mutation_p.E311V|FBLN1_ENST00000402984.3_Missense_Mutation_p.E349V|FBLN1_ENST00000327858.6_Missense_Mutation_p.E311V|FBLN1_ENST00000262722.7_Missense_Mutation_p.E311V|FBLN1_ENST00000476366.1_3'UTR|FBLN1_ENST00000442170.2_Missense_Mutation_p.E311V	p.E311V			P23142	FBLN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	9	1079	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	311			EGF-like 4; calcium-binding (Potential).		B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	ENST00000327858.6	37	c.932A>T	CCDS14067.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.478758	0.84747	.	.	ENSG00000077942	ENST00000348697;ENST00000402984;ENST00000262722;ENST00000327858;ENST00000442170;ENST00000340923	D;D;D;D;D;D	0.98876	-5.2;-5.2;-5.2;-5.2;-5.2;-5.2	5.25	5.25	0.73442	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.101136	0.64402	D	0.000002	D	0.99223	0.9730	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.78314	0.97;0.955;0.991;0.956	D	0.99215	1.0877	10	0.87932	D	0	.	14.8401	0.70217	1.0:0.0:0.0:0.0	.	349;311;311;311	B1AHL2;P23142;B1AHL4;P23142-4	.;FBLN1_HUMAN;.;.	V	311;349;311;311;311;311	ENSP00000262723:E311V;ENSP00000385521:E349V;ENSP00000262722:E311V;ENSP00000331544:E311V;ENSP00000393812:E311V;ENSP00000342212:E311V	ENSP00000262722:E311V	E	+	2	0	FBLN1	44315782	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	9.058000	0.93896	1.983000	0.57843	0.533000	0.62120	GAG		0.527	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486		8	58	0	0	0	1	0	8	58				
G2E3	55632	broad.mit.edu	37	14	31074772	31074772	+	Nonsense_Mutation	SNP	A	A	T			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr14:31074772A>T	ENST00000206595.6	+	11	1226	c.1072A>T	c.(1072-1074)Aaa>Taa	p.K358*	G2E3_ENST00000438909.2_Nonsense_Mutation_p.K312*|G2E3_ENST00000553504.1_Nonsense_Mutation_p.K388*|G2E3_ENST00000544007.1_Intron	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	358					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						ATTCCAAATTAAAAAAAAAAC	0.274																																						ENST00000206595.6																			0				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1072-1074)Aaa>Taa		G2/M-phase specific E3 ubiquitin protein ligase							26.0	28.0	27.0					14																	31074772		2193	4291	6484	SO:0001587	stop_gained	55632				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr14:31074772A>T	AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"""Zinc fingers, PHD-type"""	20338	protein-coding gene	gene with protein product	"""PHD finger protein 7B"""	611299	"""KIAA1333"""	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.1072A>T	14.37:g.31074772A>T	ENSP00000206595:p.Lys358*					G2E3_ENST00000553504.1_Nonsense_Mutation_p.K388*|G2E3_ENST00000438909.2_Nonsense_Mutation_p.K312*|G2E3_ENST00000544007.1_Intron	p.K358*	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN			11	1226	+			358					Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Nonsense_Mutation	SNP	ENST00000206595.6	37	c.1072A>T	CCDS9638.1	.	.	.	.	.	.	.	.	.	.	A	48	14.922180	0.99815	.	.	ENSG00000092140	ENST00000206595;ENST00000438909;ENST00000553504	.	.	.	5.66	5.66	0.87406	.	0.397439	0.28895	N	0.013781	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.5027	14.7694	0.69665	1.0:0.0:0.0:0.0	.	.	.	.	X	358;312;388	.	ENSP00000206595:K358X	K	+	1	0	G2E3	30144523	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	3.378000	0.52432	2.284000	0.76573	0.528000	0.53228	AAA		0.274	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769		8	18	0	0	0	1	0	8	18				
POTEF	728378	broad.mit.edu	37	2	130877893	130877893	+	Missense_Mutation	SNP	G	G	A	rs375216280	byFrequency	TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr2:130877893G>A	ENST00000409914.2	-	3	595	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	POTEF_ENST00000361163.4_Missense_Mutation_p.R66C|POTEF_ENST00000360967.5_Missense_Mutation_p.R66C|POTEF_ENST00000357462.5_Missense_Mutation_p.R66C	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	66					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AAGCAGTGGCGGCACCACTTG	0.602													.|||	9	0.00179712	0.0045	0.0	5008	,	,		15108	0.003		0.0	False		,,,				2504	0.0					ENST00000357462.5																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						c.(196-198)Cgc>Tgc		POTE ankyrin domain family, member F		G	CYS/ARG	5,4333		0,5,2164	89.0	123.0	111.0		196		0.1	2		111	6,8582		0,6,4288	no	missense	POTEF	NM_001099771.2	180	0,11,6452	AA,AG,GG		0.0699,0.1153,0.0851	possibly-damaging	66/1076	130877893	11,12915	2169	4294	6463	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130877893G>A	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.196C>T	2.37:g.130877893G>A	ENSP00000386786:p.Arg66Cys					POTEF_ENST00000409914.2_Missense_Mutation_p.R66C|POTEF_ENST00000360967.5_Missense_Mutation_p.R66C|POTEF_ENST00000361163.4_Missense_Mutation_p.R66C	p.R66C			A5A3E0	POTEF_HUMAN			1	289	-			66					A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.196C>T	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	0.672	-0.801492	0.02841	0.001153	6.99E-4	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.77358	-1.09;-1.09;1.74;1.76	.	.	.	.	.	.	.	.	T	0.52549	0.1741	N	0.01352	-0.895	0.09310	N	1	D	0.56521	0.976	P	0.52066	0.689	T	0.51052	-0.8754	7	0.41790	T	0.15	.	.	.	.	.	66	A5A3E0	POTEF_HUMAN	C	66	ENSP00000350052:R66C;ENSP00000386786:R66C;ENSP00000354232:R66C;ENSP00000355012:R66C	ENSP00000350052:R66C	R	-	1	0	POTEF	130594363	0.006000	0.16342	0.069000	0.20011	0.086000	0.17979	-0.679000	0.05203	-1.372000	0.02137	-1.353000	0.01230	CGC		0.602	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		4	117	0	0	0	1	0	4	117				
PPAP2C	8612	broad.mit.edu	37	19	282295	282295	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr19:282295G>A	ENST00000269812.3	-	5	605	c.556C>T	c.(556-558)Cga>Tga	p.R186*	PPAP2C_ENST00000327790.3_Nonsense_Mutation_p.R207*|PPAP2C_ENST00000434325.2_Nonsense_Mutation_p.R130*	NM_003712.2|NM_177526.1	NP_003703.1|NP_803545.1	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C	186					dephosphorylation (GO:0016311)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAACAGAGTCGTGCCTGCACA	0.617																																						ENST00000269812.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5						c.(556-558)Cga>Tga		phosphatidic acid phosphatase type 2C							81.0	67.0	72.0					19																	282295		2203	4300	6503	SO:0001587	stop_gained	8612				sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr19:282295G>A	AF035959	CCDS12023.1, CCDS12024.1, CCDS45889.1	19p13	2009-05-27				ENSG00000141934	3.1.3.4		9230	protein-coding gene	gene with protein product		607126				9570154, 9607309	Standard	NM_177543		Approved	PAP-2c, LPP2	uc002loh.3	O43688		ENST00000269812.3:c.556C>T	19.37:g.282295G>A	ENSP00000269812:p.Arg186*					PPAP2C_ENST00000434325.2_Nonsense_Mutation_p.R130*|PPAP2C_ENST00000327790.3_Nonsense_Mutation_p.R207*	p.R186*	NM_003712.2|NM_177526.1	NP_003703.1|NP_803545.1	O43688	LPP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	605	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	186					A6NLV0|E9PAY8	Nonsense_Mutation	SNP	ENST00000269812.3	37	c.556C>T	CCDS12023.1	.	.	.	.	.	.	.	.	.	.	.	25.1	4.604813	0.87157	.	.	ENSG00000141934	ENST00000269812;ENST00000327790;ENST00000434325	.	.	.	4.6	2.35	0.29111	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.4897	9.9997	0.41920	0.0:0.1499:0.6947:0.1554	.	.	.	.	X	186;207;130	.	ENSP00000269812:R186X	R	-	1	2	PPAP2C	233295	1.000000	0.71417	0.004000	0.12327	0.529000	0.34654	5.777000	0.68931	0.352000	0.24053	0.449000	0.29647	CGA		0.617	PPAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451777.2			4	41	0	0	0	1	0	4	41				
ARHGAP15	55843	broad.mit.edu	37	2	144008083	144008083	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr2:144008083A>G	ENST00000295095.6	+	6	555	c.388A>G	c.(388-390)Act>Gct	p.T130A		NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	130	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		ATTACAGAAAACTGGGCACAA	0.368																																						ENST00000295095.6																			0				endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34						c.(388-390)Act>Gct		Rho GTPase activating protein 15							96.0	93.0	94.0					2																	144008083		2203	4300	6503	SO:0001583	missense	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:144008083A>G	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.388A>G	2.37:g.144008083A>G	ENSP00000295095:p.Thr130Ala						p.T130A	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	6	555	+			130			PH.		Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP	ENST00000295095.6	37	c.388A>G	CCDS2184.1	.	.	.	.	.	.	.	.	.	.	A	8.941	0.965801	0.18583	.	.	ENSG00000075884	ENST00000295095	T	0.74421	-0.84	5.75	3.27	0.37495	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.426594	0.24467	N	0.038271	T	0.55800	0.1943	L	0.27053	0.805	0.27660	N	0.947107	B;B	0.06786	0.001;0.0	B;B	0.09377	0.002;0.004	T	0.38200	-0.9672	10	0.19147	T	0.46	.	6.4615	0.21958	0.4497:0.3231:0.0:0.2272	.	130;130	B4E0R3;Q53QZ3	.;RHG15_HUMAN	A	130	ENSP00000295095:T130A	ENSP00000295095:T130A	T	+	1	0	ARHGAP15	143724553	0.996000	0.38824	0.999000	0.59377	0.962000	0.63368	0.438000	0.21559	0.391000	0.25143	0.477000	0.44152	ACT		0.368	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		3	24	0	0	0	1	0	3	24				
GPER1	2852	broad.mit.edu	37	7	1131651	1131651	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr7:1131651T>C	ENST00000297469.3	+	2	978	c.287T>C	c.(286-288)cTg>cCg	p.L96P	C7orf50_ENST00000397098.3_Intron|GPER1_ENST00000401670.1_Missense_Mutation_p.L96P|GPER1_ENST00000397092.1_Missense_Mutation_p.L96P|GPER1_ENST00000397088.3_Missense_Mutation_p.L96P|C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000357429.6_Intron	NM_001505.2	NP_001496.1	Q99527	GPER1_HUMAN	G protein-coupled estrogen receptor 1	96					apoptotic chromosome condensation (GO:0030263)|cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucose stimulus (GO:0071333)|cellular response to mineralocorticoid stimulus (GO:0071389)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytosolic calcium ion homeostasis (GO:0051480)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA metabolic process (GO:0051053)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte activation (GO:0002695)|negative regulation of lipid biosynthetic process (GO:0051055)|neuronal action potential (GO:0019228)|nuclear fragmentation involved in apoptotic nuclear change (GO:0030264)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of gene expression (GO:0010628)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of insulin secretion (GO:0032024)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vasodilation (GO:0045909)|steroid hormone mediated signaling pathway (GO:0043401)	axon (GO:0030424)|axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine head (GO:0044327)|dendritic spine membrane (GO:0032591)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|keratin filament (GO:0045095)|mitochondrial membrane (GO:0031966)|neuronal postsynaptic density (GO:0097481)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	chromatin binding (GO:0003682)|estrogen receptor activity (GO:0030284)|G-protein coupled receptor activity (GO:0004930)|mineralocorticoid receptor activity (GO:0017082)|steroid binding (GO:0005496)										ATCCCCGACCTGTACTTCATC	0.577																																						ENST00000397092.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	13						c.(286-288)cTg>cCg									124.0	107.0	113.0					7																	1131651		2202	4300	6502	SO:0001583	missense	0					endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:1131651T>C	U63917	CCDS5322.1	7p22	2013-08-14	2007-07-03	2013-08-14	ENSG00000164850	ENSG00000164850			4485	protein-coding gene	gene with protein product		601805	"""G protein-coupled receptor 30"""	CMKRL2, GPR30, GPER		9479505, 17655271	Standard	NM_001098201		Approved	FEG-1, GPCR-Br, LERGU, LERGU2, DRY12, LyGPR, CEPR	uc003skb.2	Q99527	OTTHUMG00000023680	ENST00000297469.3:c.287T>C	7.37:g.1131651T>C	ENSP00000297469:p.Leu96Pro					GPER_ENST00000401670.1_Missense_Mutation_p.L96P|C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000488073.1_Intron|GPER_ENST00000297469.3_Missense_Mutation_p.L96P|C7orf50_ENST00000357429.6_Intron|GPER_ENST00000397088.3_Missense_Mutation_p.L96P|C7orf50_ENST00000397098.3_Intron	p.L96P	NM_001039966.1	NP_001035055.1	Q99527	GPER_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)	3	1171	+		Ovarian(82;0.0253)	96					A8K6C5|B5BUJ1|O00143|O43494|Q13631|Q6FHL1|Q96F42|Q99981	Missense_Mutation	SNP	ENST00000297469.3	37	c.287T>C	CCDS5322.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.403932	0.83230	.	.	ENSG00000164850	ENST00000401670;ENST00000397092;ENST00000297469;ENST00000397088;ENST00000508834	T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75	5.48	5.48	0.80851	GPCR, rhodopsin-like superfamily (1);	0.074057	0.56097	D	0.000036	D	0.86020	0.5833	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87896	0.2687	10	0.87932	D	0	-15.0404	14.7598	0.69596	0.0:0.0:0.0:1.0	.	96	Q99527	GPER_HUMAN	P	96	ENSP00000385151:L96P;ENSP00000380281:L96P;ENSP00000297469:L96P;ENSP00000380277:L96P	ENSP00000297469:L96P	L	+	2	0	GPER	1098177	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.482000	0.81143	2.089000	0.63090	0.523000	0.50628	CTG		0.577	GPER1-030	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060001.1	NM_001039966		8	24	0	0	0	1	0	8	24				
GPR98	84059	broad.mit.edu	37	5	90136723	90136723	+	Missense_Mutation	SNP	T	T	A			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr5:90136723T>A	ENST00000405460.2	+	78	17036	c.16940T>A	c.(16939-16941)gTg>gAg	p.V5647E	GPR98_ENST00000425867.2_Missense_Mutation_p.V1308E	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5647					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTCAACAGAGTGCTCCATACC	0.428																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(16939-16941)gTg>gAg		G protein-coupled receptor 98							76.0	76.0	76.0					5																	90136723		1992	4187	6179	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90136723T>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.16940T>A	5.37:g.90136723T>A	ENSP00000384582:p.Val5647Glu					GPR98_ENST00000425867.2_Missense_Mutation_p.V1308E	p.V5647E	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	78	17036	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	5647					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.16940T>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.327514	0.81690	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.22539	1.95;1.95	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	M	0.66939	2.045	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.68943	0.914;0.933;0.961	T	0.22661	-1.0210	9	.	.	.	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	1308;5647;1308	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	E	5647;5647;1308	ENSP00000384582:V5647E;ENSP00000392618:V1308E	.	V	+	2	0	GPR98	90172479	1.000000	0.71417	0.966000	0.40874	0.645000	0.38454	6.945000	0.75947	2.367000	0.80283	0.528000	0.53228	GTG		0.428	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		4	29	0	0	0	1	0	4	29				
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	rs121913499		TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Ggt		isocitrate dehydrogenase 1 (NADP+), soluble							81.0	74.0	76.0					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>C		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>G	2.37:g.209113113G>C	ENSP00000390265:p.Arg132Gly					IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G	p.R132G			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>G	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286370	0.80803	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.96636	0.8902	H	0.99379	4.54	0.80722	D	1	D	0.57899	0.981	P	0.62813	0.907	D	0.98312	1.0524	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	G	132	ENSP00000260985:R132G;ENSP00000410513:R132G;ENSP00000390265:R132G;ENSP00000391075:R132G	ENSP00000260985:R132G	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			31	41	0	0	0	1	0	31	41				
APOA4	337	broad.mit.edu	37	11	116692128	116692128	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr11:116692128C>T	ENST00000357780.3	-	3	760	c.646G>A	c.(646-648)Gtg>Atg	p.V216M		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	216	13 X 22 AA approximate tandem repeats.				cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		AGCTCCTCCACGGTCTGGTCA	0.592																																						ENST00000357780.3																			0				cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(646-648)Gtg>Atg		apolipoprotein A-IV							172.0	168.0	170.0					11																	116692128		2201	4292	6493	SO:0001583	missense	337							g.chr11:116692128C>T		CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"""Apolipoproteins"""	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.646G>A	11.37:g.116692128C>T	ENSP00000350425:p.Val216Met						p.V216M	NM_000482.3	NP_000473.2				BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	3	760	-	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)						A8MSL6|Q14CW8|Q6Q787	Missense_Mutation	SNP	ENST00000357780.3	37	c.646G>A	CCDS31681.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.662380	0.47572	.	.	ENSG00000110244	ENST00000357780	T	0.72942	-0.7	4.96	-1.15	0.09709	Apolipoprotein/apolipophorin (1);	0.583811	0.15704	N	0.248778	T	0.72350	0.3449	M	0.86740	2.835	0.26612	N	0.972829	D	0.60575	0.988	P	0.49012	0.598	T	0.65290	-0.6204	10	0.66056	D	0.02	-23.069	3.2762	0.06899	0.1109:0.475:0.1093:0.3048	.	216	P06727	APOA4_HUMAN	M	216	ENSP00000350425:V216M	ENSP00000350425:V216M	V	-	1	0	APOA4	116197338	0.007000	0.16637	0.979000	0.43373	0.763000	0.43281	0.378000	0.20569	-0.095000	0.12351	-0.253000	0.11424	GTG		0.592	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106279.2	NM_000482		5	180	0	0	0	1	0	5	180				
ATRX	546	broad.mit.edu	37	X	76909614	76909614	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chrX:76909614G>A	ENST00000373344.5	-	14	4505	c.4291C>T	c.(4291-4293)Caa>Taa	p.Q1431*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.Q1393*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1431					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GAATCTTCTTGAACCTTAATA	0.353			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(4291-4293)Caa>Taa		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						256.0	216.0	230.0					X																	76909614		2203	4295	6498	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76909614G>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4291C>T	X.37:g.76909614G>A	ENSP00000362441:p.Gln1431*					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.Q1393*	p.Q1431*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			14	4505	-			1431					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.4291C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	g	46	12.152583	0.99641	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	.	.	.	5.41	5.41	0.78517	.	0.153838	0.43919	D	0.000506	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-10.1277	18.0982	0.89497	0.0:0.0:1.0:0.0	.	.	.	.	X	1431;1393	.	ENSP00000362441:Q1431X	Q	-	1	0	ATRX	76796270	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	7.682000	0.84083	2.396000	0.81511	0.502000	0.49764	CAA		0.353	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		25	10	0	0	0	1	0	25	10				
ECT2L	345930	broad.mit.edu	37	6	139135697	139135697	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr6:139135697T>C	ENST00000423192.1	+	3	297	c.136T>C	c.(136-138)Ttc>Ctc	p.F46L	ECT2L_ENST00000541398.1_5'UTR|ECT2L_ENST00000367682.2_Missense_Mutation_p.F46L			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	46							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						ACGTCAAGAATTCTTATTCGC	0.348			"""N, Splice, Mis"""		ETP ALL																																	ENST00000423192.1				Rec	yes		6	6q24.1	345930	"""N, Splice, Mis"""	epithelial cell transforming sequence 2 oncogene-like			L			ETP ALL		0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						c.(136-138)Ttc>Ctc		epithelial cell transforming sequence 2 oncogene-like							83.0	80.0	81.0					6																	139135697		1819	4082	5901	SO:0001583	missense	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139135697T>C		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.136T>C	6.37:g.139135697T>C	ENSP00000387388:p.Phe46Leu					ECT2L_ENST00000367682.2_Missense_Mutation_p.F46L|ECT2L_ENST00000541398.1_5'UTR	p.F46L			Q008S8	ECT2L_HUMAN			3	297	+			46					B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	37	c.136T>C	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	T	16.85	3.236936	0.58886	.	.	ENSG00000203734	ENST00000423192;ENST00000401414;ENST00000367682	T;T;T	0.58060	0.36;1.06;0.36	5.43	5.43	0.79202	.	.	.	.	.	T	0.49047	0.1534	N	0.22421	0.69	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	T	0.58707	-0.7589	9	0.72032	D	0.01	.	13.0191	0.58775	0.0:0.0:0.0:1.0	.	46	Q008S8	ECT2L_HUMAN	L	46	ENSP00000387388:F46L;ENSP00000385187:F46L;ENSP00000356655:F46L	ENSP00000356655:F46L	F	+	1	0	ECT2L	139177390	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.344000	0.52174	2.066000	0.61787	0.533000	0.62120	TTC		0.348	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		4	16	0	0	0	1	0	4	16				
MUC4	4585	broad.mit.edu	37	3	195511142	195511142	+	Missense_Mutation	SNP	T	T	C	rs430037	byFrequency	TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr3:195511142T>C	ENST00000463781.3	-	2	7768	c.7309A>G	c.(7309-7311)Aac>Gac	p.N2437D	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.N2437D	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.N2437D(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGAAACGTTGGTGACAGGA	0.597													.|||	2741	0.547324	0.4629	0.4841	5008	,	,		18811	0.75		0.5755	False		,,,				2504	0.4683					ENST00000463781.3																			1	Substitution - Missense(1)	p.N2437D(1)	prostate(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(7309-7311)Aac>Gac		mucin 4, cell surface associated							59.0	58.0	58.0					3																	195511142		645	1581	2226	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195511142T>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.7309A>G	3.37:g.195511142T>C	ENSP00000417498:p.Asn2437Asp					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.N2437D	p.N2437D	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	7768	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	195					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.7309A>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	T	6.228	0.410269	0.11812	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.34667	1.36;1.35	.	.	.	.	.	.	.	.	T	0.14917	0.0360	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.04013	0.001	T	0.26950	-1.0088	7	.	.	.	.	3.8346	0.08888	0.0:0.0:0.3913:0.6087	.	2437	E7ESK3	.	D	2437	ENSP00000417498:N2437D;ENSP00000420243:N2437D	.	N	-	1	0	MUC4	196995537	.	.	0.023000	0.16930	0.000000	0.00434	.	.	0.402000	0.25451	0.000000	0.15137	AAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	3	0	0	0	1	0	3	3				
C4orf19	55286	broad.mit.edu	37	4	37592609	37592609	+	Missense_Mutation	SNP	A	A	C			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr4:37592609A>C	ENST00000284437.6	+	3	1110	c.932A>C	c.(931-933)gAt>gCt	p.D311A	RP11-36B15.1_ENST00000503034.1_RNA|C4orf19_ENST00000508175.1_Intron|RELL1_ENST00000314117.4_3'UTR|C4orf19_ENST00000381980.4_Missense_Mutation_p.D311A	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	311										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						GAAGATTTGGATGAGACTGAT	0.552																																						ENST00000284437.6																			0				large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						c.(931-933)gAt>gCt		chromosome 4 open reading frame 19							58.0	61.0	60.0					4																	37592609		2203	4300	6503	SO:0001583	missense	55286							g.chr4:37592609A>C	BC037906	CCDS3442.1	4p14	2008-02-05			ENSG00000154274	ENSG00000154274			25618	protein-coding gene	gene with protein product						12477932	Standard	NM_001104629		Approved	FLJ11017	uc003gsw.4	Q8IY42	OTTHUMG00000128580	ENST00000284437.6:c.932A>C	4.37:g.37592609A>C	ENSP00000284437:p.Asp311Ala					C4orf19_ENST00000508175.1_Intron|RELL1_ENST00000314117.4_3'UTR|C4orf19_ENST00000381980.4_Missense_Mutation_p.D311A	p.D311A	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN			3	1110	+			311					Q9NV03	Missense_Mutation	SNP	ENST00000284437.6	37	c.932A>C	CCDS3442.1	.	.	.	.	.	.	.	.	.	.	A	19.32	3.804067	0.70682	.	.	ENSG00000154274	ENST00000381980;ENST00000284437	T;T	0.29917	1.55;1.55	5.15	5.15	0.70609	.	0.303544	0.28042	N	0.016821	T	0.45074	0.1324	L	0.55481	1.735	0.80722	D	1	D	0.63046	0.992	P	0.57101	0.813	T	0.43163	-0.9408	10	0.87932	D	0	-19.3095	13.9844	0.64324	1.0:0.0:0.0:0.0	.	311	Q8IY42	CD019_HUMAN	A	311	ENSP00000371408:D311A;ENSP00000284437:D311A	ENSP00000284437:D311A	D	+	2	0	C4orf19	37269004	1.000000	0.71417	0.104000	0.21259	0.690000	0.40134	5.815000	0.69215	2.288000	0.76882	0.482000	0.46254	GAT		0.552	C4orf19-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250432.1	NM_018302		23	22	0	0	0	1	0	23	22				
BCAM	4059	broad.mit.edu	37	19	45322605	45322605	+	Silent	SNP	C	C	T			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr19:45322605C>T	ENST00000270233.6	+	12	1498	c.1476C>T	c.(1474-1476)ccC>ccT	p.P492P	BCAM_ENST00000589651.1_Silent_p.P492P	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	492	Ig-like C2-type 3.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CTCCATAGCCCGCAGAGCCAA	0.647																																						ENST00000391955.1																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22						c.(1474-1476)ccC>ccT		basal cell adhesion molecule (Lutheran blood group)							50.0	56.0	54.0					19																	45322605		2203	4300	6503	SO:0001819	synonymous_variant	4059				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	g.chr19:45322605C>T	X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6722	protein-coding gene	gene with protein product		612773	"""Lutheran blood group (Auberger b antigen included)"", ""basal cell adhesion molecule (Lu and Au blood groups)"""	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.1476C>T	19.37:g.45322605C>T						BCAM_ENST00000270233.6_Silent_p.P492P	p.P492P			P50895	BCAM_HUMAN			12	1520	+	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)	492			Ig-like C2-type 3.		A8MYF9|A9YWT5|A9YWT6|Q86VC7	Silent	SNP	ENST00000270233.6	37	c.1476C>T	CCDS12644.1																																																																																				0.647	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		3	56	0	0	0	1	0	3	56				
VCAN	1462	broad.mit.edu	37	5	82817082	82817082	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr5:82817082T>C	ENST00000265077.3	+	7	3522	c.2957T>C	c.(2956-2958)tTa>tCa	p.L986S	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.L986S|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.L938S	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	986	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TGGGGAGTGTTAGTACCTTCT	0.428																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(2956-2958)tTa>tCa		versican							82.0	83.0	83.0					5																	82817082		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82817082T>C	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.2957T>C	5.37:g.82817082T>C	ENSP00000265077:p.Leu986Ser					VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.L938S|VCAN_ENST00000342785.4_Missense_Mutation_p.L986S|VCAN_ENST00000343200.5_Intron	p.L986S	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	3522	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	986			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.2957T>C	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	T	9.926	1.213484	0.22289	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	D;D;D	0.86694	-2.03;-2.13;-2.16	5.77	-4.92	0.03075	.	1.320200	0.05100	N	0.486875	T	0.78566	0.4303	L	0.45137	1.4	0.09310	N	1	B;P	0.35507	0.11;0.506	B;B	0.28553	0.055;0.091	T	0.67268	-0.5713	10	0.48119	T	0.1	.	7.6763	0.28488	0.0:0.4329:0.2404:0.3267	.	986;986	P13611-3;P13611	.;CSPG2_HUMAN	S	986;986;938	ENSP00000265077:L986S;ENSP00000342768:L986S;ENSP00000425959:L938S	ENSP00000265077:L986S	L	+	2	0	VCAN	82852838	0.000000	0.05858	0.000000	0.03702	0.940000	0.58332	-0.641000	0.05434	-1.188000	0.02705	-0.462000	0.05337	TTA		0.428	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		3	40	0	0	0	1	0	3	40				
ZNFX1	57169	broad.mit.edu	37	20	47868122	47868122	+	Missense_Mutation	SNP	G	G	T	rs147830129		TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr20:47868122G>T	ENST00000396105.1	-	13	3500	c.3254C>A	c.(3253-3255)cCc>cAc	p.P1085H	ZNFX1_ENST00000371752.1_Missense_Mutation_p.P1085H|ZNFX1_ENST00000371754.4_Missense_Mutation_p.P1085H	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1085							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GTAAATGTGGGGGGTCAAAAG	0.438																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(3253-3255)cCc>cAc		zinc finger, NFX1-type containing 1		G	HIS/PRO	0,4406		0,0,2203	77.0	72.0	74.0		3254	6.0	1.0	20	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNFX1	NM_021035.2	77	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	possibly-damaging	1085/1919	47868122	1,13005	2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47868122G>T	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.3254C>A	20.37:g.47868122G>T	ENSP00000379412:p.Pro1085His					ZNFX1_ENST00000371754.4_Missense_Mutation_p.P1085H|ZNFX1_ENST00000371752.1_Missense_Mutation_p.P1085H	p.P1085H	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		13	3500	-			1085					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.3254C>A	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098816	0.94197	0.0	1.16E-4	ENSG00000124201	ENST00000371754;ENST00000371752;ENST00000396105	T;D;D	0.92048	2.02;-2.96;-2.96	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	D	0.95538	0.8550	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94864	0.8024	10	0.52906	T	0.07	-20.5276	19.0799	0.93178	0.0:0.0:1.0:0.0	.	1085	Q9P2E3	ZNFX1_HUMAN	H	1085	ENSP00000360819:P1085H;ENSP00000360817:P1085H;ENSP00000379412:P1085H	ENSP00000360817:P1085H	P	-	2	0	ZNFX1	47301529	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.775000	0.85489	2.852000	0.98041	0.643000	0.83706	CCC		0.438	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		4	36	1	0	1.23904e-05	1	1.27253e-05	4	36				
ZGRF1	55345	broad.mit.edu	37	4	113508492	113508492	+	Missense_Mutation	SNP	T	T	A			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr4:113508492T>A	ENST00000505019.1	-	12	3846	c.3721A>T	c.(3721-3723)Att>Ttt	p.I1241F		NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1241						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ACATTTTTAATTTCCTCTGTC	0.388																																						ENST00000505019.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(3721-3723)Att>Ttt		chromosome 4 open reading frame 21							99.0	108.0	105.0					4																	113508492		2203	4300	6503	SO:0001583	missense	55345							g.chr4:113508492T>A																												ENST00000505019.1:c.3721A>T	4.37:g.113508492T>A	ENSP00000424737:p.Ile1241Phe						p.I1241F	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	12	3846	-		Ovarian(17;0.156)	0					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.3721A>T		.	.	.	.	.	.	.	.	.	.	T	18.34	3.603530	0.66445	.	.	ENSG00000138658	ENST00000505019	D	0.82711	-1.64	5.68	-7.91	0.01165	.	16.481300	0.00166	N	0.000000	T	0.66499	0.2795	N	0.19112	0.55	0.09310	N	1	B	0.14438	0.01	B	0.16289	0.015	T	0.58312	-0.7658	10	0.11485	T	0.65	-7.6129	8.2306	0.31595	0.0921:0.5234:0.0983:0.2863	.	1241	G5EA02	.	F	1241	ENSP00000424737:I1241F	ENSP00000404365:I139F	I	-	1	0	C4orf21	113727941	0.000000	0.05858	0.000000	0.03702	0.857000	0.48899	-1.167000	0.03126	-1.761000	0.01310	-0.264000	0.10439	ATT		0.388	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			5	81	0	0	0	1	0	5	81				
LEKR1	389170	broad.mit.edu	37	3	156745897	156745897	+	Silent	SNP	T	T	C			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr3:156745897T>C	ENST00000470811.1	+	13	1797	c.462T>C	c.(460-462)tcT>tcC	p.S154S	LEKR1_ENST00000356539.4_Silent_p.S458S			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1	154										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TACAGATATCTGACTTAATCA	0.343																																						ENST00000470811.1																			0				breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11						c.(460-462)tcT>tcC		leucine, glutamate and lysine rich 1							47.0	50.0	49.0					3																	156745897		2202	4300	6502	SO:0001819	synonymous_variant	389170							g.chr3:156745897T>C	AK131473	CCDS54660.1	3q25.31	2014-02-12	2008-02-21		ENSG00000197980	ENSG00000197980			33765	protein-coding gene	gene with protein product		613536					Standard	NM_001004316		Approved	FLJ16641	uc021xgh.1	Q6ZMV7	OTTHUMG00000160130	ENST00000470811.1:c.462T>C	3.37:g.156745897T>C						LEKR1_ENST00000356539.4_Silent_p.S458S	p.S154S			D3DNK7	D3DNK7_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		13	1797	+			0						Silent	SNP	ENST00000470811.1	37	c.462T>C																																																																																					0.343	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000351625.3	NM_001004316		21	20	0	0	0	1	0	21	20				
IGHG1	3500	broad.mit.edu	37	14	106209335	106209335	+	RNA	SNP	A	A	G			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr14:106209335A>G	ENST00000390548.2	-	0	73							P01857	IGHG1_HUMAN	immunoglobulin heavy constant gamma 1 (G1m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CAGGCAGCCCAGGGCTGCTGT	0.662																																						ENST00000390548.2																			0																				26.0	25.0	25.0					14																	106209335		1976	4139	6115			0							g.chr14:106209335A>G	J00228		14q32.33	2012-10-02			ENSG00000211896	ENSG00000211896		"""Immunoglobulins / IGH locus"""	5525	other	immunoglobulin gene		147100					Standard	NG_001019		Approved		uc001yse.3	P01857	OTTHUMG00000152495		14.37:g.106209335A>G														0	73	-									RNA	SNP	ENST00000390548.2	37																																																																																						0.662	IGHG1-002	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	IG_C_gene	IG_C_gene	OTTHUMT00000326504.1	NG_001019		4	23	0	0	0	1	0	4	23				
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575|rs397516437		TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000420246.2_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575	c.(733-735)Ggc>Agc	Other conserved DNA damage response genes	tumor protein p53		C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149.0	112.0	125.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1.0	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577548C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.733G>A	17.37:g.7577548C>T	ENSP00000269305:p.Gly245Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S	p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	865	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.733G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		33	8	0	0	0	1	0	33	8				
OR5T1	390155	broad.mit.edu	37	11	56043714	56043714	+	Silent	SNP	T	T	C			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr11:56043714T>C	ENST00000313033.2	+	1	686	c.600T>C	c.(598-600)tcT>tcC	p.S200S		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S200S(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TTGCTATTTCTTGTTCTGACA	0.398																																						ENST00000313033.2																			1	Substitution - coding silent(1)	p.S200S(1)	lung(1)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43						c.(598-600)tcT>tcC		olfactory receptor, family 5, subfamily T, member 1							236.0	224.0	228.0					11																	56043714		2201	4296	6497	SO:0001819	synonymous_variant	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043714T>C	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.600T>C	11.37:g.56043714T>C							p.S200S	NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN			1	686	+	Esophageal squamous(21;0.00448)		200					B2RNM9	Silent	SNP	ENST00000313033.2	37	c.600T>C	CCDS31525.1																																																																																				0.398	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		69	96	0	0	0	1	0	69	96				
POLR1E	64425	broad.mit.edu	37	9	37500851	37500851	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr9:37500851G>A	ENST00000377798.4	+	10	1014	c.901G>A	c.(901-903)Gga>Aga	p.G301R	POLR1E_ENST00000442009.2_Missense_Mutation_p.G231R|POLR1E_ENST00000377792.3_Missense_Mutation_p.G363R	NM_022490.1	NP_071935.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	0					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		TCTGGGACCTGGAGTTCCCCA	0.483																																					Ovarian(116;843 1620 18506 32459 34463)	ENST00000377792.3																			0				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12						c.(1087-1089)Gga>Aga		polymerase (RNA) I polypeptide E, 53kDa							138.0	116.0	124.0					9																	37500851		2203	4300	6503	SO:0001583	missense	64425				rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr9:37500851G>A	AK091294	CCDS6611.1	9p13.1	2013-01-21	2006-03-09	2006-03-09	ENSG00000137054	ENSG00000137054		"""RNA polymerase subunits"""	17631	protein-coding gene	gene with protein product	"""RNA polymerase I associated factor 53"""		"""polymerase (RNA) I associated factor 1"""	PRAF1		8641287	Standard	XM_005251547		Approved	FLJ13390, PAF53, FLJ13970	uc003zzy.1	Q9GZS1	OTTHUMG00000019920	ENST00000377798.4:c.901G>A	9.37:g.37500851G>A	ENSP00000367029:p.Gly301Arg					POLR1E_ENST00000442009.2_Missense_Mutation_p.G231R|POLR1E_ENST00000377798.4_Missense_Mutation_p.G301R	p.G363R			Q9GZS1	RPA49_HUMAN		GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)	9	1375	+			363					O75395|Q5JTE3	Missense_Mutation	SNP	ENST00000377798.4	37	c.1087G>A	CCDS6611.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.855654	0.71834	.	.	ENSG00000137054	ENST00000377798;ENST00000442009;ENST00000377792	T;T;T	0.21031	2.03;2.03;2.03	5.59	5.59	0.84812	.	0.213327	0.49305	D	0.000146	T	0.41166	0.1147	L	0.59436	1.845	0.52501	D	0.99995	P;D;P	0.53745	0.934;0.962;0.642	P;P;P	0.61003	0.882;0.882;0.603	T	0.01537	-1.1330	10	0.33141	T	0.24	-10.7557	18.7303	0.91733	0.0:0.0:1.0:0.0	.	231;363;301	E7EX70;Q9GZS1;Q9GZS1-2	.;RPA49_HUMAN;.	R	301;231;363	ENSP00000367029:G301R;ENSP00000399887:G231R;ENSP00000367023:G363R	ENSP00000367023:G363R	G	+	1	0	POLR1E	37490851	1.000000	0.71417	0.842000	0.33263	0.314000	0.28054	7.083000	0.76859	2.793000	0.96121	0.561000	0.74099	GGA		0.483	POLR1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052464.1	NM_022490		9	14	0	0	0	1	0	9	14				
ABCA4	24	broad.mit.edu	37	1	94544878	94544878	+	Splice_Site	SNP	A	A	T			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr1:94544878A>T	ENST00000370225.3	-	9	1325	c.1239T>A	c.(1237-1239)aaT>aaA	p.N413K	ABCA4_ENST00000535735.1_Splice_Site_p.N413K	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	413					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGGATCTTACATTCTTCAGTA	0.502																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.e9+1		ATP-binding cassette, sub-family A (ABC1), member 4							125.0	119.0	121.0					1																	94544878		2203	4300	6503	SO:0001630	splice_region_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94544878A>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.1239+1T>A	1.37:g.94544878A>T						ABCA4_ENST00000535735.1_Splice_Site_p.N413_splice	p.N413_splice	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	9	1325	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	413					O15112|O60438|O60915|Q0QD48|Q4LE31	Splice_Site	SNP	ENST00000370225.3	37	c.1239_splice	CCDS747.1	.	.	.	.	.	.	.	.	.	.	A	12.91	2.078149	0.36662	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.82619	-1.63;-1.63	5.36	-4.66	0.03329	.	0.280544	0.41001	D	0.000961	T	0.50735	0.1633	L	0.38531	1.155	0.40390	D	0.979532	B;B	0.23185	0.081;0.012	B;B	0.18263	0.021;0.005	T	0.16424	-1.0403	9	.	.	.	.	9.0298	0.36252	0.4914:0.104:0.4047:0.0	.	413;413	F5H6E5;P78363	.;ABCA4_HUMAN	K	413	ENSP00000359245:N413K;ENSP00000437682:N413K	.	N	-	3	2	ABCA4	94317466	0.971000	0.33674	0.878000	0.34440	0.988000	0.76386	0.274000	0.18680	-1.105000	0.03011	0.459000	0.35465	AAT		0.502	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350	Missense_Mutation	4	49	0	0	0	1	0	4	49				
CPAMD8	27151	broad.mit.edu	37	19	17038819	17038819	+	Splice_Site	SNP	C	C	T			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr19:17038819C>T	ENST00000443236.1	-	25	3542	c.3511G>A	c.(3511-3513)Ggg>Agg	p.G1171R		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1124						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						ACAGACGCACCGATGATGGAG	0.637																																						ENST00000443236.1																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.e25+1		C3 and PZP-like, alpha-2-macroglobulin domain containing 8							41.0	48.0	46.0					19																	17038819		2045	4186	6231	SO:0001630	splice_region_variant	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17038819C>T	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3511+1G>A	19.37:g.17038819C>T							p.G1171_splice	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			25	3542	-			1124					Q8NC09|Q9ULD7	Splice_Site	SNP	ENST00000443236.1	37	c.3511_splice	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676759	0.47886	.	.	ENSG00000160111	ENST00000291440	.	.	.	3.02	3.02	0.34903	.	0.074140	0.53938	U	0.000044	D	0.83482	0.5264	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.87038	0.2139	8	.	.	.	.	13.9882	0.64348	0.0:1.0:0.0:0.0	.	1124	Q8IZJ3	CPMD8_HUMAN	R	1171	.	.	G	-	1	0	CPAMD8	16899819	1.000000	0.71417	0.030000	0.17652	0.011000	0.07611	6.465000	0.73538	1.237000	0.43756	0.655000	0.94253	GGG		0.637	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692	Missense_Mutation	13	24	0	0	0	1	0	13	24				
FCRLA	84824	broad.mit.edu	37	1	161681737	161681737	+	Silent	SNP	G	G	A	rs575335846		TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr1:161681737G>A	ENST00000236938.6	+	4	806	c.564G>A	c.(562-564)gcG>gcA	p.A188A	FCRLA_ENST00000546024.1_Silent_p.A99A|FCRLA_ENST00000367953.3_Silent_p.A177A|FCRLA_ENST00000367957.2_Silent_p.A48A|FCRLA_ENST00000367959.2_Silent_p.A194A|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000349527.4_Intron|FCRLA_ENST00000540926.1_Silent_p.A177A|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000309691.6_Silent_p.A82A|FCRLA_ENST00000294796.4_Silent_p.A37A|FCRLA_ENST00000540521.1_Silent_p.A54A	NM_032738.3	NP_116127.3	Q7L513	FCRLA_HUMAN	Fc receptor-like A	171	Ig-like C2-type 2.				cell differentiation (GO:0030154)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			TGTTTCCAGCGCCAATTCTCA	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		19147	0.0		0.0	False		,,,				2504	0.001					ENST00000540926.1																			0				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34						c.(529-531)gcG>gcA		Fc receptor-like A							159.0	189.0	179.0					1																	161681737		2203	4300	6503	SO:0001819	synonymous_variant	84824				cell differentiation	cytoplasm|extracellular region		g.chr1:161681737G>A	AF531423	CCDS30926.1, CCDS53415.1, CCDS53416.1, CCDS53417.1, CCDS53418.1, CCDS53419.1, CCDS53420.1	1q23.3	2014-01-28	2006-09-26	2006-09-26	ENSG00000132185	ENSG00000132185		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18504	protein-coding gene	gene with protein product		606891	"""Fc receptor-like and mucin-like 1"""	FCRLM1		11754007	Standard	NM_001184866		Approved	MGC4595, FCRLc2, FCRLb, FCRLc1, FCRLd, FCRLe, FCRL, FCRLa, FREB, FCRLX	uc001gbe.3	Q7L513	OTTHUMG00000034537	ENST00000236938.6:c.564G>A	1.37:g.161681737G>A						FCRLA_ENST00000236938.6_Silent_p.A188A|FCRLA_ENST00000309691.6_Silent_p.A82A|FCRLA_ENST00000294796.4_Silent_p.A37A|FCRLA_ENST00000546024.1_Silent_p.A99A|FCRLA_ENST00000540521.1_Silent_p.A54A|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000367953.3_Silent_p.A177A|FCRLA_ENST00000367957.2_Silent_p.A48A|FCRLA_ENST00000367959.2_Silent_p.A194A|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000349527.4_Intron	p.A177A			Q7L513	FCRLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00301)		5	824	+	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		171			Ig-like C2-type 2.		A0N0M1|A6NC03|A6NL20|F5H720|F8W743|G3V1J2|Q5VXA1|Q5VXA2|Q5VXA3|Q5VXA4|Q5VXB0|Q5VXB1|Q8NEW4|Q8WXH3|Q96PC6|Q96PJ0|Q96PJ1|Q96PJ2|Q96PJ4|Q9BR57	Silent	SNP	ENST00000236938.6	37	c.531G>A	CCDS30926.1																																																																																				0.527	FCRLA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083574.1	NM_032738		4	166	0	0	0	1	0	4	166				
SLC1A6	6511	broad.mit.edu	37	19	15061177	15061177	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr19:15061177C>T	ENST00000221742.3	-	9	1532	c.1525G>A	c.(1525-1527)Gta>Ata	p.V509I	SLC1A6_ENST00000430939.2_Missense_Mutation_p.V445I|SLC1A6_ENST00000600144.1_Missense_Mutation_p.V431I	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	509					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.V509I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						TCCCCCAGTACGTTGGTCATT	0.577																																						ENST00000430939.2																			1	Substitution - Missense(1)	p.V509I(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1333-1335)Gta>Ata		solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	L-Glutamic Acid(DB00142)						56.0	53.0	54.0					19																	15061177		2203	4300	6503	SO:0001583	missense	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15061177C>T		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1525G>A	19.37:g.15061177C>T	ENSP00000221742:p.Val509Ile					SLC1A6_ENST00000600144.1_Missense_Mutation_p.V431I|SLC1A6_ENST00000221742.3_Missense_Mutation_p.V509I	p.V445I			P48664	EAA4_HUMAN			9	1462	-			509					Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	c.1333G>A	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	c	25.3	4.619932	0.87460	.	.	ENSG00000105143	ENST00000430939;ENST00000221742	T;T	0.67523	-0.27;-0.27	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.78830	0.4345	L	0.55213	1.73	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.954	T	0.80457	-0.1374	10	0.87932	D	0	-29.072	16.7235	0.85416	0.0:1.0:0.0:0.0	.	445;509	E7EV13;P48664	.;EAA4_HUMAN	I	445;509	ENSP00000409386:V445I;ENSP00000221742:V509I	ENSP00000221742:V509I	V	-	1	0	SLC1A6	14922177	1.000000	0.71417	0.929000	0.37066	0.613000	0.37349	7.604000	0.82830	2.555000	0.86185	0.544000	0.68410	GTA		0.577	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		13	22	0	0	0	1	0	13	22				
AC096649.3	0	broad.mit.edu	37	2	176190119	176190259	+	lincRNA	DEL	GGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT	GGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT	-	rs538185784|rs6729868|rs558558768|rs186801826|rs66540730|rs576825072|rs556396380|rs377343814	byFrequency	TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr2:176190119_176190259delGGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT	ENST00000438963.1	+	0	247																											gctgtgtggcggtatcacaacctctactcagttctactacaaactgtctcaagaactagatttatacaatcatgtacctaagccccgcaacaaaagagtacccattcttccttttgttatcagagcaggagtgctaggtgtgctgtgtggtggtatcacaa	0.44																																						ENST00000438963.1																			0																																																			0							g.chr2:176190119_176190259delGGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT																													2.37:g.176190119_176190259delGGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT														0	247	+									RNA	DEL	ENST00000438963.1	37																																																																																						0.440	AC096649.3-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000334503.1			45	98						45	98	---	---	---	---
RFTN1	23180	broad.mit.edu	37	3	16411682	16411685	+	Frame_Shift_Del	DEL	CTGT	CTGT	-			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr3:16411682_16411685delCTGT	ENST00000334133.4	-	6	1200_1203	c.928_931delACAG	c.(928-933)acagtgfs	p.TV310fs	RFTN1_ENST00000483671.1_5'UTR|RFTN1_ENST00000432519.1_Frame_Shift_Del_p.TV274fs	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	310					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						AAACCGCTCACTGTCTGGCCATTC	0.51																																						ENST00000334133.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						c.(928-933)tgfs		raftlin, lipid raft linker 1																																				SO:0001589	frameshift_variant	23180					plasma membrane		g.chr3:16411682_16411685delCTGT	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"""raft-linking protein"""					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.928_931delACAG	3.37:g.16411682_16411685delCTGT	ENSP00000334153:p.Thr310fs					RFTN1_ENST00000483671.1_5'UTR|RFTN1_ENST00000432519.1_Frame_Shift_Del_p.TV274fs	p.TV310fs	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN			6	1200_1203	-			310					Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Frame_Shift_Del	DEL	ENST00000334133.4	37	c.928_931delACAG	CCDS33712.1																																																																																				0.510	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150		35	146						35	146	---	---	---	---
EMG1	10436	broad.mit.edu	37	12	7080210	7080211	+	Splice_Site	INS	-	-	G	rs60117710|rs374779752|rs200041551		TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr12:7080210_7080211insG	ENST00000261406.6	+	2	266		c.e2-1		PHB2_ENST00000544134.1_5'Flank|PHB2_ENST00000542912.1_5'Flank|PHB2_ENST00000399433.2_5'Flank|EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000546111.1_5'Flank|PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000535923.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		CGGAGGCCGTAGTTTATTGTGG	0.569													GG|G|GG|deletion	5008	1.0	1.0	1.0	5008	,	,		18008	1.0		1.0	False		,,,				2504	1.0					ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3732,16		1865,2,7						3.0	1.0		dbSNP_129	28	7880,30		3934,12,9	no	frameshift	EMG1	NM_006331.7		5799,14,16	A1A1,A1R,RR		0.3793,0.4269,0.3946				11612,46				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080210_7080211insG	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"""EMG1 nucleolar protein homolog (S. cerevisiae)"""			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->G	12.37:g.7080211_7080211dupG						U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA				Q92979	NEP1_HUMAN			0	155_156	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Intron	6	9						6	9	---	---	---	---
WFIKKN2	124857	broad.mit.edu	37	17	48917204	48917204	+	Frame_Shift_Del	DEL	C	C	-			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr17:48917204delC	ENST00000311378.4	+	2	1083	c.555delC	c.(553-555)agcfs	p.S185fs	WFIKKN2_ENST00000426127.1_Frame_Shift_Del_p.S92fs|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	185					muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CCAACACCAGCCCCCCACCAC	0.627																																						ENST00000311378.4																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29						c.(553-555)agfs		WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2							87.0	83.0	84.0					17																	48917204		2203	4300	6503	SO:0001589	frameshift_variant	124857					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr17:48917204delC	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.555delC	17.37:g.48917204delC	ENSP00000311184:p.Ser185fs					WFIKKN2_ENST00000426127.1_Frame_Shift_Del_p.S92fs	p.S185fs	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	1083	+			185					Q6UXZ9	Frame_Shift_Del	DEL	ENST00000311378.4	37	c.555delC	CCDS11575.1																																																																																				0.627	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575		12	26						12	26	---	---	---	---
ROCK1	6093	broad.mit.edu	37	18	18586471	18586474	+	Frame_Shift_Del	DEL	TAAT	TAAT	-			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr18:18586471_18586474delTAAT	ENST00000399799.2	-	16	2663_2666	c.1723_1726delATTA	c.(1723-1728)attagtfs	p.IS575fs		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	575	Interaction with FHOD1.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TCTAACTGACTAATTGACTTGCTC	0.382																																						ENST00000399799.1																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16						c.(1723-1728)gtfs		Rho-associated, coiled-coil containing protein kinase 1																																				SO:0001589	frameshift_variant	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18586471_18586474delTAAT		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.1723_1726delATTA	18.37:g.18586471_18586474delTAAT	ENSP00000382697:p.Ile575fs						p.IS575fs	NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN			16	2663_2666	-	Melanoma(1;0.165)		575			Interaction with FHOD1.		B0YJ91|Q2KHM4|Q59GZ4	Frame_Shift_Del	DEL	ENST00000399799.2	37	c.1723_1726delATTA	CCDS11870.2																																																																																				0.382	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		9	98						9	98	---	---	---	---
APOC1P1	342	broad.mit.edu	37	19	45431267	45431268	+	RNA	INS	-	-	A	rs200256644		TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr19:45431267_45431268insA	ENST00000574565.1	+	0	402					NR_028412.1				apolipoprotein C-I pseudogene 1																		TGAACAGATTGAAAAAAAAAAC	0.525																																						ENST00000574565.1																			0																																																			0							g.chr19:45431267_45431268insA	M20903		19q13.32	2014-03-18			ENSG00000214855	ENSG00000214855			608	pseudogene	pseudogene							Standard	NR_028412		Approved		uc021uvm.1		OTTHUMG00000177534		19.37:g.45431277_45431277dupA								NR_028412.1						0	402	+									RNA	INS	ENST00000574565.1	37																																																																																						0.525	APOC1P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000437392.1			2	4						2	4	---	---	---	---
