#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
FAM118B	79607	broad.mit.edu	37	11	126126563	126126563	+	Silent	SNP	C	C	G			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr11:126126563C>G	ENST00000533050.1	+	7	1291	c.798C>G	c.(796-798)gtC>gtG	p.V266V	FAM118B_ENST00000360194.4_Silent_p.V266V|FAM118B_ENST00000529731.1_Silent_p.V190V	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	266										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		TGGAGGCTGTCAAGCATAAAT	0.448																																						ENST00000533050.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13						c.(796-798)gtC>gtG		family with sequence similarity 118, member B							93.0	93.0	93.0					11																	126126563		2201	4299	6500	SO:0001819	synonymous_variant	79607							g.chr11:126126563C>G	BC001340	CCDS8470.1	11q24.2	2014-03-13				ENSG00000197798			26110	protein-coding gene	gene with protein product						24569877	Standard	NM_024556		Approved	FLJ21103	uc001qdf.3	Q9BPY3		ENST00000533050.1:c.798C>G	11.37:g.126126563C>G						FAM118B_ENST00000360194.4_Silent_p.V266V	p.V266V	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)	7	1291	+	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	266					Q9H7B0	Silent	SNP	ENST00000533050.1	37	c.798C>G	CCDS8470.1																																																																																				0.448	FAM118B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386346.1	NM_024556		41	53	0	0	0	0.098360	0	41	53				
DENND4C	55667	broad.mit.edu	37	9	19346705	19346705	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr9:19346705G>T	ENST00000380432.2	+	18	3116	c.3083G>T	c.(3082-3084)gGc>gTc	p.G1028V	DENND4C_ENST00000434457.2_Missense_Mutation_p.G1313V|DENND4C_ENST00000602925.1_Missense_Mutation_p.G1264V			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1028					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AGAGAGTCTGGCATGACTACT	0.398																																						ENST00000307015.9																			0				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1501-1503)gGc>gTc		DENN/MADD domain containing 4C							92.0	91.0	91.0					9																	19346705		2203	4300	6503	SO:0001583	missense	55667					integral to membrane		g.chr9:19346705G>T	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.3083G>T	9.37:g.19346705G>T	ENSP00000369797:p.Gly1028Val					DENND4C_ENST00000380432.2_Missense_Mutation_p.G1028V|DENND4C_ENST00000602925.1_Missense_Mutation_p.G1264V|DENND4C_ENST00000434457.2_Missense_Mutation_p.G1313V|DENND4C_ENST00000540671.1_Missense_Mutation_p.G358V	p.G501V			Q5VZ89	DEN4C_HUMAN			19	3254	+			1028					A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	37	c.1502G>T		.	.	.	.	.	.	.	.	.	.	G	1.479	-0.557642	0.03967	.	.	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000453857;ENST00000540671;ENST00000380432;ENST00000380427;ENST00000361024	T;T	0.22743	1.94;1.94	5.72	0.369	0.16151	.	1.146790	0.06248	N	0.691667	T	0.12518	0.0304	N	0.22421	0.69	0.21627	N	0.999618	B;B;B;B	0.19200	0.007;0.034;0.004;0.002	B;B;B;B	0.18561	0.016;0.022;0.015;0.003	T	0.34725	-0.9817	10	0.27785	T	0.31	1.2172	2.9652	0.05906	0.2162:0.3451:0.3341:0.1046	.	358;1028;210;1028	B7Z660;Q5VZ89-5;Q5VZ89-3;Q5VZ89	.;.;.;DEN4C_HUMAN	V	1028;501;210;358;501;210;25	ENSP00000305795:G501V;ENSP00000443804:G358V	ENSP00000305795:G501V	G	+	2	0	DENND4C	19336705	0.011000	0.17503	0.001000	0.08648	0.048000	0.14542	0.946000	0.29069	0.076000	0.16826	-0.142000	0.14014	GGC		0.398	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		4	84	1	0	0.000602214	0.014758	0.000733131	4	84				
TNXB	7148	broad.mit.edu	37	6	32039776	32039776	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr6:32039776C>T	ENST00000375244.3	-	13	5182	c.4981G>A	c.(4981-4983)Gca>Aca	p.A1661T	TNXB_ENST00000375247.2_Missense_Mutation_p.A1661T			P22105	TENX_HUMAN	tenascin XB	1743	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCCGTCTTTGCCTCCACAGAG	0.592																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(4981-4983)Gca>Aca		tenascin XB							32.0	33.0	33.0					6																	32039776		1999	4170	6169	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32039776C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.4981G>A	6.37:g.32039776C>T	ENSP00000364393:p.Ala1661Thr					TNXB_ENST00000375247.2_Missense_Mutation_p.A1661T	p.A1661T			P22105	TENX_HUMAN			13	5182	-			1743			Fibronectin type-III 9.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.4981G>A		.	.	.	.	.	.	.	.	.	.	C	20.5	3.999096	0.74818	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.55760	0.66;0.5	5.55	4.69	0.59074	.	0.494990	0.16931	N	0.193670	T	0.38665	0.1049	M	0.73962	2.25	0.25228	N	0.989853	P	0.43607	0.812	P	0.45474	0.482	T	0.33650	-0.9860	10	0.15952	T	0.53	.	11.6133	0.51074	0.0:0.9163:0.0:0.0837	.	1661	P22105-3	.	T	1661	ENSP00000364393:A1661T;ENSP00000364396:A1661T	ENSP00000364393:A1661T	A	-	1	0	TNXB	32147754	0.973000	0.33851	0.921000	0.36526	0.923000	0.55619	1.585000	0.36600	1.358000	0.45922	-0.229000	0.12294	GCA		0.592	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		10	12	0	0	0	0.093190	0	10	12				
CSMD3	114788	broad.mit.edu	37	8	113304784	113304784	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr8:113304784G>A	ENST00000297405.5	-	55	9014	c.8770C>T	c.(8770-8772)Cct>Tct	p.P2924S	CSMD3_ENST00000343508.3_Missense_Mutation_p.P2884S|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2755S|CSMD3_ENST00000352409.3_Missense_Mutation_p.P2854S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2924	Sushi 19. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P2924T(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAGGTGGAGGATGGCTCCAC	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			1	Substitution - Missense(1)	p.P2924T(1)	lung(1)	breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(8770-8772)Cct>Tct		CUB and Sushi multiple domains 3							194.0	173.0	180.0					8																	113304784		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113304784G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8770C>T	8.37:g.113304784G>A	ENSP00000297405:p.Pro2924Ser	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.P2854S|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2755S|CSMD3_ENST00000343508.3_Missense_Mutation_p.P2884S	p.P2924S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			55	9014	-			2924			Sushi 19.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.8770C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.567044	0.65651	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	5.76	5.76	0.90799	Complement control module (2);Sushi/SCR/CCP (3);	0.162866	0.41938	D	0.000793	T	0.65281	0.2676	L	0.33792	1.035	0.58432	D	0.999992	P;P;D	0.61697	0.837;0.775;0.99	P;P;P	0.60682	0.476;0.61;0.878	T	0.57814	-0.7746	10	0.16420	T	0.52	.	15.0958	0.72232	0.0696:0.0:0.9304:0.0	.	2755;2924;2884	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	S	2884;2924;2194;2755;2854	ENSP00000345799:P2884S;ENSP00000297405:P2924S;ENSP00000341558:P2194S;ENSP00000412263:P2755S;ENSP00000343124:P2854S	ENSP00000297405:P2924S	P	-	1	0	CSMD3	113373960	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.797000	0.75150	2.724000	0.93272	0.650000	0.86243	CCT		0.403	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		57	235	0	0	0	0.048971	0	57	235				
THBS1	7057	broad.mit.edu	37	15	39883403	39883403	+	Silent	SNP	A	A	G			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr15:39883403A>G	ENST00000260356.5	+	15	2430	c.2265A>G	c.(2263-2265)ccA>ccG	p.P755P	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	755					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		ACAACTGTCCATTCCATTACA	0.448																																						ENST00000260356.5																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(2263-2265)ccA>ccG		thrombospondin 1	Becaplermin(DB00102)						142.0	137.0	139.0					15																	39883403		2200	4297	6497	SO:0001819	synonymous_variant	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39883403A>G		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.2265A>G	15.37:g.39883403A>G							p.P755P	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	15	2430	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	755					A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Silent	SNP	ENST00000260356.5	37	c.2265A>G	CCDS32194.1																																																																																				0.448	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		60	123	0	0	0	0.048971	0	60	123				
EPS8L1	54869	broad.mit.edu	37	19	55597452	55597452	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr19:55597452G>A	ENST00000201647.6	+	16	1598	c.1542G>A	c.(1540-1542)tgG>tgA	p.W514*	EPS8L1_ENST00000245618.5_Nonsense_Mutation_p.W387*|EPS8L1_ENST00000588359.1_Nonsense_Mutation_p.W200*|EPS8L1_ENST00000540810.1_Nonsense_Mutation_p.W450*|EPS8L1_ENST00000586329.1_Intron	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	514	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GTCGTAAGTGGTGGAAGGTTC	0.622																																					Ovarian(149;255 1863 3636 27051 29647)	ENST00000201647.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12						c.(1540-1542)tgG>tgA		EPS8-like 1							88.0	93.0	91.0					19																	55597452		2203	4300	6503	SO:0001587	stop_gained	54869					cytoplasm		g.chr19:55597452G>A	AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.1542G>A	19.37:g.55597452G>A	ENSP00000201647:p.Trp514*					EPS8L1_ENST00000540810.1_Nonsense_Mutation_p.W450*|EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000245618.5_Nonsense_Mutation_p.W387*|EPS8L1_ENST00000588359.1_Nonsense_Mutation_p.W200*	p.W514*	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	16	1598	+			514			SH3.		Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Nonsense_Mutation	SNP	ENST00000201647.6	37	c.1542G>A	CCDS12914.1	.	.	.	.	.	.	.	.	.	.	G	36	5.857511	0.97030	.	.	ENSG00000131037	ENST00000201647;ENST00000540810;ENST00000245618;ENST00000539118	.	.	.	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.3095	14.8794	0.70519	0.0:0.0:1.0:0.0	.	.	.	.	X	514;450;387;200	.	ENSP00000201647:W514X	W	+	3	0	EPS8L1	60289264	1.000000	0.71417	1.000000	0.80357	0.553000	0.35397	8.138000	0.89613	2.188000	0.69820	0.484000	0.47621	TGG		0.622	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729		5	85	0	0	0	0.014758	0	5	85				
OR4C6	219432	broad.mit.edu	37	11	55432839	55432839	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr11:55432839T>C	ENST00000314259.3	+	1	226	c.197T>C	c.(196-198)cTt>cCt	p.L66P		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TTCTTGTCCCTTTTGGATGTC	0.448																																						ENST00000314259.3																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(196-198)cTt>cCt		olfactory receptor, family 4, subfamily C, member 6							286.0	249.0	261.0					11																	55432839		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55432839T>C	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.197T>C	11.37:g.55432839T>C	ENSP00000324769:p.Leu66Pro						p.L66P	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	226	+			66					B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.197T>C	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	T	13.96	2.391830	0.42410	.	.	ENSG00000181903	ENST00000314259	T	0.00558	6.61	3.83	2.65	0.31530	GPCR, rhodopsin-like superfamily (1);	0.759952	0.10760	N	0.637293	T	0.02533	0.0077	M	0.91612	3.225	0.09310	N	1	D	0.60160	0.987	D	0.63033	0.91	T	0.30149	-0.9988	10	0.87932	D	0	.	9.1072	0.36705	0.0:0.0:0.1857:0.8143	.	66	Q8NH72	OR4C6_HUMAN	P	66	ENSP00000324769:L66P	ENSP00000324769:L66P	L	+	2	0	OR4C6	55189415	0.006000	0.16342	0.001000	0.08648	0.006000	0.05464	1.669000	0.37492	0.354000	0.24105	0.444000	0.29173	CTT		0.448	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		3	230	0	0	0	0.009096	0	3	230				
SPTBN1	6711	broad.mit.edu	37	2	54880943	54880943	+	Silent	SNP	C	C	G			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr2:54880943C>G	ENST00000356805.4	+	27	6056	c.5775C>G	c.(5773-5775)ctC>ctG	p.L1925L	SPTBN1_ENST00000333896.5_Silent_p.L1912L	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1925	Interaction with ANK2.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ACCTCATGCTCTGGATGGAGG	0.577																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(5734-5736)ctC>ctG		spectrin, beta, non-erythrocytic 1							53.0	50.0	51.0					2																	54880943		2203	4300	6503	SO:0001819	synonymous_variant	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54880943C>G		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.5775C>G	2.37:g.54880943C>G						SPTBN1_ENST00000356805.4_Silent_p.L1925L	p.L1912L	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		26	6121	+			1925			Interaction with ANK2.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	ENST00000356805.4	37	c.5736C>G	CCDS33198.1																																																																																				0.577	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			14	22	0	0	0	0.105934	0	14	22				
AMER1	139285	broad.mit.edu	37	X	63411385	63411385	+	Silent	SNP	G	G	A			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chrX:63411385G>A	ENST00000330258.3	-	2	2054	c.1782C>T	c.(1780-1782)caC>caT	p.H594H	AMER1_ENST00000374869.3_Silent_p.H594H|AMER1_ENST00000403336.1_Silent_p.H594H	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	594					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									CCTCCCTGGCGTGGGCCTCCC	0.612																																						ENST00000330258.3																			67	Whole gene deletion(67)	p.0?(67)	kidney(65)|ovary(1)|large_intestine(1)								c.(1780-1782)caC>caT		APC membrane recruitment protein 1							45.0	41.0	42.0					X																	63411385		2203	4300	6503	SO:0001819	synonymous_variant	139285							g.chrX:63411385G>A	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.1782C>T	X.37:g.63411385G>A						AMER1_ENST00000374869.3_Silent_p.H594H|AMER1_ENST00000403336.1_Silent_p.H594H	p.H594H	NM_152424.3	NP_689637.3					2	2054	-								A2IB86|Q8N885	Silent	SNP	ENST00000330258.3	37	c.1782C>T	CCDS14377.2																																																																																				0.612	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		3	38	0	0	0	0.004672	0	3	38				
OR2W3	343171	broad.mit.edu	37	1	248059264	248059264	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr1:248059264A>G	ENST00000360358.3	+	1	376	c.376A>G	c.(376-378)Atc>Gtc	p.I126V	OR2W3_ENST00000537741.1_Missense_Mutation_p.I126V	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GTGTGTGGCTATCTGCAAGCC	0.607																																						ENST00000537741.1																			0				breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49						c.(376-378)Atc>Gtc		olfactory receptor, family 2, subfamily W, member 3							110.0	85.0	93.0					1																	248059264		2203	4300	6503	SO:0001583	missense	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059264A>G	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.376A>G	1.37:g.248059264A>G	ENSP00000353516:p.Ile126Val					OR2W3_ENST00000360358.3_Missense_Mutation_p.I126V	p.I126V			Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	633	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		126					Q6IF06|Q8NG86	Missense_Mutation	SNP	ENST00000360358.3	37	c.376A>G	CCDS31099.1	.	.	.	.	.	.	.	.	.	.	A	0	-2.587295	0.00128	.	.	ENSG00000238243	ENST00000537741;ENST00000360358	T;T	0.50813	0.73;0.73	5.28	-2.65	0.06095	GPCR, rhodopsin-like superfamily (1);	0.479877	0.19405	N	0.115074	T	0.24509	0.0594	L	0.31664	0.95	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.35919	-0.9769	10	0.02654	T	1	.	8.4344	0.32778	0.623:0.1194:0.2576:0.0	.	126	Q7Z3T1	OR2W3_HUMAN	V	126	ENSP00000445853:I126V;ENSP00000353516:I126V	ENSP00000353516:I126V	I	+	1	0	OR2W3	246125887	0.017000	0.18338	0.013000	0.15412	0.006000	0.05464	0.318000	0.19504	-0.377000	0.07930	-1.010000	0.02471	ATC		0.607	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		20	61	0	0	0	0.055883	0	20	61				
RGAG1	57529	broad.mit.edu	37	X	109694416	109694416	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chrX:109694416T>C	ENST00000465301.2	+	3	817	c.571T>C	c.(571-573)Tcc>Ccc	p.S191P	RGAG1_ENST00000540313.1_Missense_Mutation_p.S191P	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	191										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TGAGGCAATGTCCACACCATT	0.483																																						ENST00000465301.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(571-573)Tcc>Ccc		retrotransposon gag domain containing 1							147.0	126.0	133.0					X																	109694416		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109694416T>C	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.571T>C	X.37:g.109694416T>C	ENSP00000419786:p.Ser191Pro					RGAG1_ENST00000540313.1_Missense_Mutation_p.S191P	p.S191P	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN			3	817	+			191					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.571T>C	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	T	15.30	2.792442	0.50102	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.52983	0.64;0.64	3.65	2.45	0.29901	.	0.000000	0.35805	N	0.002962	T	0.42154	0.1190	L	0.27053	0.805	0.24301	N	0.995129	D	0.55385	0.971	P	0.55455	0.776	T	0.15407	-1.0438	9	.	.	.	-3.4815	6.2296	0.20728	0.0:0.0:0.2565:0.7435	.	191	Q8NET4	RGAG1_HUMAN	P	191	ENSP00000419786:S191P;ENSP00000441452:S191P	.	S	+	1	0	RGAG1	109581072	0.426000	0.25506	0.955000	0.39395	0.863000	0.49368	0.424000	0.21330	0.572000	0.29383	0.486000	0.48141	TCC		0.483	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		67	48	0	0	0	0.048971	0	67	48				
CLVS2	134829	broad.mit.edu	37	6	123332253	123332253	+	Silent	SNP	A	A	G	rs200795338		TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr6:123332253A>G	ENST00000275162.5	+	3	1848	c.513A>G	c.(511-513)caA>caG	p.Q171Q	CLVS2_ENST00000368438.1_Silent_p.Q25Q	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	171	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.Q171H(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						CTTTCAAGCAAGCCTCTAAAC	0.413													A|||	1	0.000199681	0.0	0.0	5008	,	,		16917	0.001		0.0	False		,,,				2504	0.0					ENST00000275162.4																			2	Substitution - Missense(2)	p.Q171H(2)	endometrium(2)	breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						c.(511-513)caA>caG		clavesin 2							131.0	115.0	120.0					6																	123332253		2203	4300	6503	SO:0001819	synonymous_variant	134829				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr6:123332253A>G	AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 212"", ""chromosome 6 open reading frame 213"", ""retinaldehyde binding protein 1-like 2"""	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.513A>G	6.37:g.123332253A>G						CLVS2_ENST00000368438.1_Silent_p.Q25Q	p.Q171Q	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN			3	1848	+			171			CRAL-TRIO.		B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Silent	SNP	ENST00000275162.5	37	c.513A>G	CCDS34525.1																																																																																				0.413	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042042.2	NM_001010852		4	86	0	0	0	0.009096	0	4	86				
PRDM9	56979	broad.mit.edu	37	5	23526956	23526956	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr5:23526956C>T	ENST00000296682.3	+	11	1941	c.1759C>T	c.(1759-1761)Cgg>Tgg	p.R587W		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	587					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.R587R(1)|p.R587W(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGAGTGTGGGCGGGGCTTTAG	0.607										HNSCC(3;0.000094)																												ENST00000296682.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.R587R(1)|p.R587W(1)	large_intestine(1)|lung(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(1759-1761)Cgg>Tgg		PR domain containing 9							45.0	51.0	49.0					5																	23526956		2174	4277	6451	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526956C>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1759C>T	5.37:g.23526956C>T	ENSP00000296682:p.Arg587Trp	HNSCC(3;0.000094)					p.R587W	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			11	1941	+			587					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.1759C>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.761742	0.31228	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.19806	2.12	2.31	2.31	0.28768	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19087	0.0458	L	0.51914	1.62	0.27726	N	0.944952	B	0.34399	0.452	B	0.34779	0.189	T	0.17868	-1.0355	9	0.87932	D	0	-0.8007	6.3198	0.21211	0.295:0.7049:0.0:0.0	.	587	Q9NQV7	PRDM9_HUMAN	W	587;353	ENSP00000296682:R587W	ENSP00000253473:R353W	R	+	1	2	PRDM9	23562713	0.003000	0.15002	0.991000	0.47740	0.651000	0.38670	1.685000	0.37659	1.575000	0.49775	0.400000	0.26472	CGG		0.607	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		34	62	0	0	0	0.048971	0	34	62				
NEB	4703	broad.mit.edu	37	2	152474871	152474871	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr2:152474871C>T	ENST00000172853.10	-	70	10412	c.10265G>A	c.(10264-10266)cGt>cAt	p.R3422H	NEB_ENST00000409198.1_Missense_Mutation_p.R3422H|NEB_ENST00000604864.1_Missense_Mutation_p.R3665H|NEB_ENST00000427231.2_Missense_Mutation_p.R3665H|NEB_ENST00000603639.1_Missense_Mutation_p.R3665H|NEB_ENST00000397345.3_Missense_Mutation_p.R3665H			P20929	NEBU_HUMAN	nebulin	3422					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CGTTTCTGGACGCTGACGGTA	0.443																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(10993-10995)cGt>cAt		nebulin							178.0	173.0	174.0					2																	152474871		1942	4148	6090	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152474871C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.10265G>A	2.37:g.152474871C>T	ENSP00000172853:p.Arg3422His					NEB_ENST00000603639.1_Missense_Mutation_p.R3665H|NEB_ENST00000409198.1_Missense_Mutation_p.R3422H|NEB_ENST00000427231.2_Missense_Mutation_p.R3665H|NEB_ENST00000604864.1_Missense_Mutation_p.R3665H|NEB_ENST00000172853.10_Missense_Mutation_p.R3422H	p.R3665H	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	74	11196	-			3665					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.10994G>A		.	.	.	.	.	.	.	.	.	.	C	7.236	0.600232	0.13939	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.05855	3.39;3.39;3.38;3.4	5.68	1.51	0.23008	.	0.426129	0.24056	N	0.041947	T	0.03136	0.0092	N	0.10972	0.075	0.54753	D	0.999988	B	0.10296	0.003	B	0.04013	0.001	T	0.46938	-0.9155	10	0.39692	T	0.17	.	6.1616	0.20368	0.0:0.3659:0.2483:0.3858	.	3422	P20929	NEBU_HUMAN	H	3422;3665;3665;3422	ENSP00000386259:R3422H;ENSP00000380505:R3665H;ENSP00000416578:R3665H;ENSP00000172853:R3422H	ENSP00000172853:R3422H	R	-	2	0	NEB	152183117	0.009000	0.17119	0.995000	0.50966	0.096000	0.18686	0.077000	0.14738	0.441000	0.26529	-0.143000	0.13931	CGT		0.443	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		54	210	0	0	0	0.048971	0	54	210				
PDZD2	23037	broad.mit.edu	37	5	32089685	32089685	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr5:32089685G>A	ENST00000438447.1	+	20	6519	c.6131G>A	c.(6130-6132)gGc>gAc	p.G2044D	PDZD2_ENST00000282493.3_Missense_Mutation_p.G2044D			O15018	PDZD2_HUMAN	PDZ domain containing 2	2044					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TCTAGGAACGGCATGTCCGTG	0.642																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(6130-6132)gGc>gAc		PDZ domain containing 2							95.0	104.0	101.0					5																	32089685		2203	4299	6502	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32089685G>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.6131G>A	5.37:g.32089685G>A	ENSP00000402033:p.Gly2044Asp					PDZD2_ENST00000282493.3_Missense_Mutation_p.G2044D	p.G2044D			O15018	PDZD2_HUMAN			20	6519	+			2044					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.6131G>A	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.110257	0.37242	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.06768	3.26;3.26	5.46	0.123	0.14709	.	0.874353	0.09956	N	0.734138	T	0.07052	0.0179	L	0.44542	1.39	0.09310	N	1	B	0.18741	0.03	B	0.15870	0.014	T	0.41484	-0.9506	10	0.27785	T	0.31	.	5.5765	0.17227	0.2364:0.2605:0.5031:0.0	.	2044	O15018	PDZD2_HUMAN	D	2044;1845;2044	ENSP00000402033:G2044D;ENSP00000282493:G2044D	ENSP00000282493:G2044D	G	+	2	0	PDZD2	32125442	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.347000	0.20014	-0.010000	0.14271	0.563000	0.77884	GGC		0.642	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			4	149	0	0	0	0.009096	0	4	149				
KRT6C	286887	broad.mit.edu	37	12	52865067	52865067	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr12:52865067A>G	ENST00000252250.6	-	5	973	c.926T>C	c.(925-927)aTg>aCg	p.M309T		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	309	Coil 1B.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GTGGGTCTGCATCTGGGACAG	0.507																																						ENST00000252250.6																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23						c.(925-927)aTg>aCg		keratin 6C							117.0	110.0	112.0					12																	52865067		2203	4298	6501	SO:0001583	missense	286887				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52865067A>G	L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20406	protein-coding gene	gene with protein product		612315	"""keratin 6E"""	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.926T>C	12.37:g.52865067A>G	ENSP00000252250:p.Met309Thr						p.M309T	NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0828)	5	973	-			309			Coil 1B.|Rod.		A1L4L5|P48666|Q2TAZ9|Q7RTN9	Missense_Mutation	SNP	ENST00000252250.6	37	c.926T>C	CCDS8829.1	.	.	.	.	.	.	.	.	.	.	A	15.07	2.722880	0.48728	.	.	ENSG00000170465	ENST00000252250;ENST00000411979	D	0.88354	-2.37	3.5	3.5	0.40072	Filament (1);	0.000000	0.64402	D	0.000001	D	0.89543	0.6745	M	0.85041	2.73	0.41884	D	0.990339	P	0.37423	0.594	B	0.37943	0.261	D	0.91094	0.4909	10	0.87932	D	0	.	12.4636	0.55745	1.0:0.0:0.0:0.0	.	309	P48668	K2C6C_HUMAN	T	309;294	ENSP00000252250:M309T	ENSP00000252250:M309T	M	-	2	0	KRT6C	51151334	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.918000	0.92759	1.575000	0.49775	0.368000	0.22195	ATG		0.507	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086		45	85	0	0	0	0.048971	0	45	85				
UBR3	130507	broad.mit.edu	37	2	170917865	170917865	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr2:170917865A>G	ENST00000272793.5	+	35	4981	c.4931A>G	c.(4930-4932)aAa>aGa	p.K1644R	UBR3_ENST00000418381.1_Missense_Mutation_p.K1644R|UBR3_ENST00000392631.1_Missense_Mutation_p.K465R			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1644					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TCCATGGAAAAATGCTTACAG	0.363																																						ENST00000272793.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						c.(4930-4932)aAa>aGa		ubiquitin protein ligase E3 component n-recognin 3 (putative)							166.0	165.0	165.0					2																	170917865		2203	4300	6503	SO:0001583	missense	130507				sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:170917865A>G	AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.4931A>G	2.37:g.170917865A>G	ENSP00000272793:p.Lys1644Arg					UBR3_ENST00000392631.1_Missense_Mutation_p.K465R|UBR3_ENST00000418381.1_Missense_Mutation_p.K1644R	p.K1644R			Q6ZT12	UBR3_HUMAN			35	4981	+			1644					B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	37	c.4931A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.288|5.288	0.238584|0.238584	0.10023|0.10023	.|.	.|.	ENSG00000144357|ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381;ENST00000392631;ENST00000439681|ENST00000392632	T;T;T;T|.	0.37915|.	1.17;1.17;1.17;1.17|.	5.92|5.92	2.3|2.3	0.28687|0.28687	.|.	0.483458|.	0.25810|.	N|.	0.028147|.	T|T	0.14614|0.14614	0.0353|0.0353	N|N	0.04724|0.04724	-0.175|-0.175	0.09310|0.09310	N|N	0.999995|0.999995	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.01281|.	0.0;0.0;0.0|.	T|T	0.23547|0.23547	-1.0185|-1.0185	10|5	0.09590|.	T|.	0.72|.	.|.	3.9548|3.9548	0.09385|0.09385	0.4942:0.0:0.3457:0.1601|0.4942:0.0:0.3457:0.1601	.|.	1644;465;1673|.	Q6ZT12;Q6ZT12-2;E7EVK3|.	UBR3_HUMAN;.;.|.	R|D	1644;1673;1644;465;344|706	ENSP00000272793:K1644R;ENSP00000396068:K1644R;ENSP00000376408:K465R;ENSP00000389097:K344R|.	ENSP00000272793:K1644R|.	K|N	+|+	2|1	0|0	UBR3|UBR3	170626111|170626111	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.944000|0.944000	0.59088|0.59088	1.194000|1.194000	0.32174|0.32174	0.500000|0.500000	0.27991|0.27991	0.528000|0.528000	0.53228|0.53228	AAA|AAT		0.363	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		109	176	0	0	0	0.048971	0	109	176				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	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.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(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)		ATAAGCATGACGACCTATGAT	0.393			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		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(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>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		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.chr2:209113112C>T		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.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			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.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			31	68	0	0	0	0.050027	0	31	68				
TROAP	10024	broad.mit.edu	37	12	49717665	49717665	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr12:49717665C>A	ENST00000257909.3	+	3	258	c.182C>A	c.(181-183)cCc>cAc	p.P61H	RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000549275.1_Intron|TROAP_ENST00000550709.1_Missense_Mutation_p.P61H|TROAP_ENST00000549534.1_3'UTR|TROAP_ENST00000380327.5_Missense_Mutation_p.P61H|TROAP_ENST00000551245.1_Missense_Mutation_p.P61H|TROAP_ENST00000548311.1_Missense_Mutation_p.P61H|TROAP_ENST00000547923.1_5'Flank	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	61					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						ATTCAACGCCCCCTCGTTGAT	0.562																																						ENST00000551245.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						c.(181-183)cCc>cAc		trophinin associated protein							75.0	78.0	77.0					12																	49717665		2203	4300	6503	SO:0001583	missense	10024				cell adhesion	cytoplasm		g.chr12:49717665C>A	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.182C>A	12.37:g.49717665C>A	ENSP00000257909:p.Pro61His					TROAP_ENST00000550709.1_Missense_Mutation_p.P61H|TROAP_ENST00000549534.1_3'UTR|TROAP_ENST00000549275.1_Intron|TROAP_ENST00000548311.1_Missense_Mutation_p.P61H|TROAP_ENST00000380327.5_Missense_Mutation_p.P61H|TROAP_ENST00000257909.3_Missense_Mutation_p.P61H|RP11-161H23.9_ENST00000553259.1_RNA	p.P61H			Q12815	TROAP_HUMAN			3	293	+			61					F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	ENST00000257909.3	37	c.182C>A	CCDS8784.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.670683	0.29693	.	.	ENSG00000135451	ENST00000551245;ENST00000380327;ENST00000548311;ENST00000550709;ENST00000257909;ENST00000547807;ENST00000551567	T;T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9;1.9	5.77	3.89	0.44902	.	0.348037	0.24618	N	0.036981	T	0.36963	0.0986	L	0.43923	1.385	0.18873	N	0.999989	D;D;D;D	0.76494	0.999;0.999;0.992;0.992	D;D;P;P	0.67548	0.952;0.947;0.875;0.875	T	0.07616	-1.0763	10	0.87932	D	0	-2.6981	7.6767	0.28490	0.1608:0.7547:0.0:0.0845	.	61;61;61;61	F8W130;Q12815;Q6PJU7;F8VSF9	.;TROAP_HUMAN;.;.	H	61	ENSP00000447509:P61H;ENSP00000369684:P61H;ENSP00000448313:P61H;ENSP00000449984:P61H;ENSP00000257909:P61H;ENSP00000446646:P61H;ENSP00000447244:P61H	ENSP00000257909:P61H	P	+	2	0	TROAP	48003932	0.000000	0.05858	0.004000	0.12327	0.110000	0.19582	0.543000	0.23237	1.397000	0.46682	0.655000	0.94253	CCC		0.562	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		4	167	1	0	0.00909568	0.009096	0.0108374	4	167				
KRT77	374454	broad.mit.edu	37	12	53088518	53088518	+	Silent	SNP	G	G	A	rs75198741		TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr12:53088518G>A	ENST00000341809.3	-	5	1000	c.972C>T	c.(970-972)gaC>gaT	p.D324D	RP11-641A6.3_ENST00000547533.1_RNA|KRT77_ENST00000537195.1_Silent_p.D91D	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	324	Linker 12.|Rod.					cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						AACGGTTATTGTCCATGGACA	0.572																																						ENST00000341809.3																			0				NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(970-972)gaC>gaT		keratin 77							154.0	112.0	126.0					12																	53088518		2203	4300	6503	SO:0001819	synonymous_variant	374454					keratin filament	structural molecule activity	g.chr12:53088518G>A	BK000975	CCDS8837.1	12q13.13	2013-06-25	2006-07-17	2006-07-17	ENSG00000189182	ENSG00000189182		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20411	protein-coding gene	gene with protein product		611158	"""keratin 1B"""	KRT1B		11683385, 16831889	Standard	NM_175078		Approved		uc001saw.3	Q7Z794	OTTHUMG00000169450	ENST00000341809.3:c.972C>T	12.37:g.53088518G>A						RP11-641A6.3_ENST00000547533.1_RNA|KRT77_ENST00000537195.1_Silent_p.D91D	p.D324D	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN			5	1000	-			324			Linker 12.|Rod.		Q7RTS8	Silent	SNP	ENST00000341809.3	37	c.972C>T	CCDS8837.1																																																																																				0.572	KRT77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404111.1	NM_175078		4	116	0	0	0	0.009096	0	4	116				
DCLK3	85443	broad.mit.edu	37	3	36779426	36779426	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr3:36779426G>T	ENST00000416516.2	-	2	1215	c.725C>A	c.(724-726)gCc>gAc	p.A242D		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	242						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GTCCTTCTTGGCCTTGGCTGC	0.562																																						ENST00000416516.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(724-726)gCc>gAc		doublecortin-like kinase 3							106.0	110.0	109.0					3																	36779426		2001	4194	6195	SO:0001583	missense	85443					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr3:36779426G>T	AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"""doublecortin and CaM kinase-like 3"""	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.725C>A	3.37:g.36779426G>T	ENSP00000394484:p.Ala242Asp						p.A242D	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN			2	1215	-			242						Missense_Mutation	SNP	ENST00000416516.2	37	c.725C>A	CCDS43064.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.345670	0.24426	.	.	ENSG00000163673	ENST00000416516	T	0.66280	-0.2	5.08	2.89	0.33648	.	0.259165	0.20429	N	0.092512	T	0.41396	0.1157	N	0.24115	0.695	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.16748	-1.0392	10	0.38643	T	0.18	.	4.4413	0.11575	0.382:0.0:0.618:0.0	.	242	Q9C098	DCLK3_HUMAN	D	242	ENSP00000394484:A242D	ENSP00000394484:A242D	A	-	2	0	DCLK3	36754430	0.001000	0.12720	0.025000	0.17156	0.753000	0.42808	1.206000	0.32321	1.297000	0.44761	0.655000	0.94253	GCC		0.562	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355		6	139	1	0	2.7689e-08	0.029380	3.44574e-08	6	139				
PRDM10	56980	broad.mit.edu	37	11	129784709	129784709	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr11:129784709G>A	ENST00000360871.3	-	17	2962	c.2731C>T	c.(2731-2733)Cga>Tga	p.R911*	PRDM10_ENST00000358825.5_Nonsense_Mutation_p.R915*|PRDM10_ENST00000304538.6_Nonsense_Mutation_p.R825*|PRDM10_ENST00000526082.1_Nonsense_Mutation_p.R829*|PRDM10_ENST00000423662.2_Nonsense_Mutation_p.R829*|PRDM10_ENST00000528746.1_Nonsense_Mutation_p.R885*	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	915	Thr-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TGTGGCGTTCGGTAGTCTGTC	0.552																																						ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(2743-2745)Cga>Tga		PR domain containing 10							340.0	298.0	312.0					11																	129784709		2201	4297	6498	SO:0001587	stop_gained	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129784709G>A	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.2731C>T	11.37:g.129784709G>A	ENSP00000354118:p.Arg911*					PRDM10_ENST00000304538.6_Nonsense_Mutation_p.R825*|PRDM10_ENST00000528746.1_Nonsense_Mutation_p.R885*|PRDM10_ENST00000423662.2_Nonsense_Mutation_p.R829*|PRDM10_ENST00000526082.1_Nonsense_Mutation_p.R829*|PRDM10_ENST00000360871.3_Nonsense_Mutation_p.R911*	p.R915*	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	18	2974	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	915			Thr-rich.		B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Nonsense_Mutation	SNP	ENST00000360871.3	37	c.2743C>T	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	G	41	8.613097	0.98886	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	.	.	.	5.44	5.44	0.79542	.	0.083013	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.254	15.112	0.72365	0.0:0.0:0.8581:0.1419	.	.	.	.	X	915;825;911;829;885;829;628	.	ENSP00000302669:R825X	R	-	1	2	PRDM10	129289919	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.882000	0.63121	2.828000	0.97474	0.655000	0.94253	CGA		0.552	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		11	325	0	0	0	0.080935	0	11	325				
ABCB4	5244	broad.mit.edu	37	7	87046828	87046828	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr7:87046828T>C	ENST00000265723.4	-	21	2593	c.2482A>G	c.(2482-2484)Aca>Gca	p.T828A	ABCB4_ENST00000359206.3_Missense_Mutation_p.T828A|ABCB4_ENST00000545634.1_Missense_Mutation_p.T828A|ABCB4_ENST00000453593.1_Missense_Mutation_p.T828A|ABCB4_ENST00000358400.3_Missense_Mutation_p.T828A	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	828	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	CTGGTTCCTGTGGCCTGGGAG	0.428																																						ENST00000265723.4																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(2482-2484)Aca>Gca		ATP-binding cassette, sub-family B (MDR/TAP), member 4							51.0	48.0	49.0					7																	87046828		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87046828T>C	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.2482A>G	7.37:g.87046828T>C	ENSP00000265723:p.Thr828Ala					ABCB4_ENST00000359206.3_Missense_Mutation_p.T828A|ABCB4_ENST00000545634.1_Missense_Mutation_p.T828A|ABCB4_ENST00000453593.1_Missense_Mutation_p.T828A|ABCB4_ENST00000358400.3_Missense_Mutation_p.T828A	p.T828A	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN			21	2593	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		828			ABC transmembrane type-1 2.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.2482A>G	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	T	14.01	2.408435	0.42715	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53;-2.53	5.82	5.82	0.92795	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.048377	0.85682	D	0.000000	D	0.87811	0.6271	L	0.52364	1.645	0.58432	D	0.999998	B;B;B	0.28470	0.213;0.01;0.012	B;B;B	0.35413	0.202;0.031;0.052	D	0.84909	0.0847	10	0.33940	T	0.23	-18.8014	16.1998	0.82063	0.0:0.0:0.0:1.0	.	828;828;828	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	A	828	ENSP00000352135:T828A;ENSP00000351172:T828A;ENSP00000265723:T828A;ENSP00000392983:T828A;ENSP00000437465:T828A	ENSP00000265723:T828A	T	-	1	0	ABCB4	86884764	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	2.848000	0.48278	2.232000	0.73038	0.528000	0.53228	ACA		0.428	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		18	43	0	0	0	0.049695	0	18	43				
TRUB2	26995	broad.mit.edu	37	9	131084636	131084636	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr9:131084636G>C	ENST00000372890.4	-	1	385	c.52C>G	c.(52-54)Ccc>Gcc	p.P18A	COQ4_ENST00000609948.1_5'Flank|COQ4_ENST00000608951.1_5'Flank|TRUB2_ENST00000546104.1_5'Flank|COQ4_ENST00000300452.3_5'Flank|COQ4_ENST00000372875.3_5'Flank|TRUB2_ENST00000460320.1_5'UTR	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	18					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						AGCCCCGGGGGCTTATAGACC	0.592																																						ENST00000372890.4																			0				kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						c.(52-54)Ccc>Gcc		TruB pseudouridine (psi) synthase family member 2							76.0	78.0	77.0					9																	131084636		2203	4300	6503	SO:0001583	missense	26995				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr9:131084636G>C	AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"""TruB pseudouridine (psi) synthase homolog 2 (E. coli)"""			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741	ENST00000372890.4:c.52C>G	9.37:g.131084636G>C	ENSP00000361982:p.Pro18Ala					TRUB2_ENST00000460320.1_5'UTR	p.P18A	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN			1	385	-			18					B7Z7G5	Missense_Mutation	SNP	ENST00000372890.4	37	c.52C>G	CCDS6897.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.712136	0.68730	.	.	ENSG00000167112	ENST00000372890	T	0.39056	1.1	5.53	4.64	0.57946	Pseudouridine synthase, catalytic domain (1);	0.052014	0.85682	D	0.000000	T	0.35913	0.0948	M	0.66506	2.035	0.80722	D	1	P	0.48911	0.917	B	0.37015	0.239	T	0.33007	-0.9885	10	0.51188	T	0.08	-29.9441	8.0266	0.30440	0.0842:0.2034:0.7124:0.0	.	18	O95900	TRUB2_HUMAN	A	18	ENSP00000361982:P18A	ENSP00000361982:P18A	P	-	1	0	TRUB2	130124457	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.934000	0.40163	1.572000	0.49736	0.655000	0.94253	CCC		0.592	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054419.1	NM_015679		3	120	0	0	0	0.004672	0	3	120				
PYROXD1	79912	broad.mit.edu	37	12	21593340	21593340	+	Silent	SNP	A	A	G			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr12:21593340A>G	ENST00000240651.9	+	2	177	c.123A>G	c.(121-123)gtA>gtG	p.V41V	PYROXD1_ENST00000538582.1_5'UTR|PYROXD1_ENST00000545178.1_Silent_p.V41V	NM_024854.3	NP_079130.2	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	41							oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						TTCTCTTGGTAACAGCTTCTC	0.289																																						ENST00000240651.9																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						c.(121-123)gtA>gtG		pyridine nucleotide-disulphide oxidoreductase domain 1							59.0	66.0	64.0					12																	21593340		2202	4290	6492	SO:0001819	synonymous_variant	79912						oxidoreductase activity	g.chr12:21593340A>G	AL832441	CCDS31755.1	12p12.1	2014-02-12			ENSG00000121350	ENSG00000121350			26162	protein-coding gene	gene with protein product						12477932	Standard	NM_024854		Approved	DKFZp762G094, FLJ22028	uc001rew.3	Q8WU10	OTTHUMG00000169129	ENST00000240651.9:c.123A>G	12.37:g.21593340A>G						PYROXD1_ENST00000538582.1_5'UTR|PYROXD1_ENST00000545178.1_Silent_p.V41V	p.V41V	NM_024854.3	NP_079130.2	Q8WU10	PYRD1_HUMAN			2	177	+			41					A6NKI6|B3KWN8|Q9H6P1	Silent	SNP	ENST00000240651.9	37	c.123A>G	CCDS31755.1																																																																																				0.289	PYROXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402363.1	NM_024854		9	140	0	0	0	0.069234	0	9	140				
OR8B4	283162	broad.mit.edu	37	11	124293908	124293908	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr11:124293908G>A	ENST00000356130.3	-	1	881	c.860C>T	c.(859-861)tCg>tTg	p.S287L		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		ACTGTAGATCGAAGGGTTAAG	0.443																																						ENST00000356130.3																			0				endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32						c.(859-861)tCg>tTg		olfactory receptor, family 8, subfamily B, member 4							92.0	90.0	91.0					11																	124293908		2201	4299	6500	SO:0001583	missense	283162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124293908G>A	AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"""GPCR / Class A : Olfactory receptors"""	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.860C>T	11.37:g.124293908G>A	ENSP00000348449:p.Ser287Leu						p.S287L	NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	881	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	287					B2RNF8|Q6IFQ7	Missense_Mutation	SNP	ENST00000356130.3	37	c.860C>T	CCDS31710.1	.	.	.	.	.	.	.	.	.	.	a	6.094	0.385610	0.11524	.	.	ENSG00000198657	ENST00000356130	T	0.29142	1.58	4.1	4.1	0.47936	GPCR, rhodopsin-like superfamily (1);	0.189156	0.24633	N	0.036866	T	0.03053	0.0090	N	0.00002	-3.525	0.21984	N	0.999431	B	0.02656	0.0	B	0.01281	0.0	T	0.37056	-0.9722	10	0.02654	T	1	.	10.0234	0.42057	0.9172:0.0:0.0828:0.0	.	287	Q96RC9	OR8B4_HUMAN	L	287	ENSP00000348449:S287L	ENSP00000348449:S287L	S	-	2	0	OR8B4	123799118	0.890000	0.30428	0.996000	0.52242	0.996000	0.88848	6.506000	0.73712	0.922000	0.37019	-0.254000	0.11334	TCG		0.443	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1	NM_001005196		32	52	0	0	0	0.050027	0	32	52				
RAPGEF2	9693	broad.mit.edu	37	4	160277114	160277114	+	Silent	SNP	G	G	A	rs374199273		TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr4:160277114G>A	ENST00000264431.4	+	23	4697	c.4278G>A	c.(4276-4278)ccG>ccA	p.P1426P		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1426					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GGAAACCGCCGGACTACAACG	0.612																																						ENST00000264431.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70						c.(4276-4278)ccG>ccA		Rap guanine nucleotide exchange factor (GEF) 2		G		0,4022		0,0,2011	23.0	25.0	24.0		4278	-11.1	0.0	4		24	1,8333		0,1,4166	no	coding-synonymous	RAPGEF2	NM_014247.2		0,1,6177	AA,AG,GG		0.012,0.0,0.0081		1426/1500	160277114	1,12355	2011	4167	6178	SO:0001819	synonymous_variant	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160277114G>A	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.4278G>A	4.37:g.160277114G>A							p.P1426P	NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	23	4697	+	all_hematologic(180;0.24)		1426					D3DP27	Silent	SNP	ENST00000264431.4	37	c.4278G>A	CCDS43277.1																																																																																				0.612	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		10	19	0	0	0	0.069234	0	10	19				
ZMIZ2	83637	broad.mit.edu	37	7	44805131	44805131	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr7:44805131C>A	ENST00000309315.4	+	16	2318	c.2195C>A	c.(2194-2196)cCc>cAc	p.P732H	ZMIZ2_ENST00000265346.7_Missense_Mutation_p.P706H|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.P674H|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.P732H|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.P700H	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	732	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCTTTGCCCCCCTGCAGCCC	0.687																																					NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2194-2196)cCc>cAc		zinc finger, MIZ-type containing 2							9.0	11.0	10.0					7																	44805131		1883	4079	5962	SO:0001583	missense	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44805131C>A	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.2195C>A	7.37:g.44805131C>A	ENSP00000311778:p.Pro732His					ZMIZ2_ENST00000413916.1_Missense_Mutation_p.P674H|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.P732H|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.P700H|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.P706H	p.P732H	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN			16	2318	+			732			Pro-rich.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	ENST00000309315.4	37	c.2195C>A	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.864699	0.71949	.	.	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.35	5.14	5.14	0.70334	.	0.215333	0.32593	N	0.005897	T	0.52517	0.1739	M	0.65498	2.005	0.30650	N	0.755525	P;P;D	0.59357	0.941;0.919;0.985	P;P;P	0.58970	0.849;0.764;0.849	T	0.56655	-0.7943	10	0.51188	T	0.08	-6.7181	13.3874	0.60803	0.1574:0.8426:0.0:0.0	.	706;732;674	Q8NF64-2;Q8NF64;Q8NF64-3	.;ZMIZ2_HUMAN;.	H	674;732;732;700;706;735	ENSP00000409648:P674H;ENSP00000311778:P732H;ENSP00000414723:P732H;ENSP00000396601:P700H;ENSP00000265346:P706H	ENSP00000265346:P706H	P	+	2	0	ZMIZ2	44771656	0.004000	0.15560	0.940000	0.37924	0.818000	0.46254	1.932000	0.40143	2.686000	0.91538	0.561000	0.74099	CCC		0.687	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		28	11	1	0	6.38683e-12	0.037714	8.12869e-12	28	11				
BCL6	604	broad.mit.edu	37	3	187449545	187449545	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr3:187449545A>G	ENST00000406870.2	-	4	701	c.335T>C	c.(334-336)cTg>cCg	p.L112P	RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.L112P|BCL6_ENST00000450123.2_Missense_Mutation_p.L112P	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	112					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CTCCATCTGCAGGTACATAGC	0.537			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																	ENST00000406870.2				Dom	yes		3	3q27	604	"""T, Mis"""	B-cell CLL/lymphoma 6			L	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""		"""NHL, CLL"""		0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40						c.(334-336)cTg>cCg		B-cell CLL/lymphoma 6							85.0	77.0	80.0					3																	187449545		2203	4300	6503	SO:0001583	missense	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187449545A>G		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.335T>C	3.37:g.187449545A>G	ENSP00000384371:p.Leu112Pro					BCL6_ENST00000450123.2_Missense_Mutation_p.L112P|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.L112P|RP11-211G3.3_ENST00000449623.1_Intron	p.L112P	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	4	701	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		112					A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	c.335T>C	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.682379	0.88542	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123;ENST00000430339	T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89	5.76	5.76	0.90799	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.91164	0.7217	H	0.97540	4.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94056	0.7322	10	0.87932	D	0	.	15.5574	0.76208	1.0:0.0:0.0:0.0	.	112;112	B8PSA7;P41182	.;BCL6_HUMAN	P	112	ENSP00000384371:L112P;ENSP00000232014:L112P;ENSP00000413122:L112P;ENSP00000415574:L112P	ENSP00000232014:L112P	L	-	2	0	BCL6	188932239	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.962000	0.93254	2.333000	0.79357	0.482000	0.46254	CTG		0.537	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		20	51	0	0	0	0.062417	0	20	51				
IGSF6	10261	broad.mit.edu	37	16	21658638	21658638	+	Missense_Mutation	SNP	G	G	T	rs1454374	byFrequency	TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr16:21658638G>T	ENST00000268389.4	-	2	304	c.243C>A	c.(241-243)gaC>gaA	p.D81E	METTL9_ENST00000358154.3_Intron|METTL9_ENST00000396014.4_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	81	Ig-like C2-type.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		TTTTGCACCCGTCCAAGCACA	0.512																																						ENST00000268389.4																			0				endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(241-243)gaC>gaA		immunoglobulin superfamily, member 6							108.0	90.0	96.0					16																	21658638		2199	4300	6499	SO:0001583	missense	10261				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr16:21658638G>T	AJ223183	CCDS10599.1	16p12.2	2013-01-11			ENSG00000140749	ENSG00000140749		"""Immunoglobulin superfamily / V-set domain containing"""	5953	protein-coding gene	gene with protein product		606222				9809579	Standard	NM_005849		Approved	DORA	uc002djg.2	O95976	OTTHUMG00000090709	ENST00000268389.4:c.243C>A	16.37:g.21658638G>T	ENSP00000268389:p.Asp81Glu					METTL9_ENST00000396014.4_Intron|METTL9_ENST00000358154.3_Intron	p.D81E	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN		GBM - Glioblastoma multiforme(48;0.066)	2	304	-			81			Ig-like C2-type.		Q8WWD8	Missense_Mutation	SNP	ENST00000268389.4	37	c.243C>A	CCDS10599.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.591456	0.28357	.	.	ENSG00000140749	ENST00000268389	T	0.64260	-0.09	4.85	-9.71	0.00518	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.262060	0.05222	N	0.508761	T	0.51601	0.1684	L	0.51422	1.61	0.09310	N	1	B	0.12630	0.006	B	0.15484	0.013	T	0.39461	-0.9613	10	0.32370	T	0.25	-15.0955	12.7412	0.57253	0.1602:0.0:0.647:0.1928	.	81	O95976	IGSF6_HUMAN	E	81	ENSP00000268389:D81E	ENSP00000268389:D81E	D	-	3	2	IGSF6	21566139	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-2.048000	0.01406	-2.967000	0.00288	-0.827000	0.03088	GAC		0.512	IGSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207400.1			53	68	1	0	1.86277e-20	0.048971	2.42593e-20	53	68				
URI1	8725	broad.mit.edu	37	19	30503230	30503230	+	Missense_Mutation	SNP	G	G	A	rs140683632		TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr19:30503230G>A	ENST00000542441.2	+	10	1514	c.1217G>A	c.(1216-1218)cGc>cAc	p.R406H	URI1_ENST00000392271.1_Missense_Mutation_p.R330H|URI1_ENST00000312051.6_Missense_Mutation_p.R366H|URI1_ENST00000360605.4_Missense_Mutation_p.R388H			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	406					cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)										TATGTCCCTCGCAAATCCATC	0.408																																						ENST00000392271.1																			0											c.(988-990)cGc>cAc		URI1, prefoldin-like chaperone		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	170.0	157.0	161.0		1217,1097	5.5	1.0	19	dbSNP_134	161	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	C19orf2	NM_003796.2,NM_134447.1	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	406/536,366/496	30503230	1,13005	2203	4300	6503	SO:0001583	missense	8725				protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding	g.chr19:30503230G>A	AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	13236	protein-coding gene	gene with protein product	"""unconventional prefoldin RPB5 interactor"", ""RPB5-mediating protein"", ""protein phosphatase 1, regulatory subunit 19"""	603494	"""chromosome 19 open reading frame 2"""	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.1217G>A	19.37:g.30503230G>A	ENSP00000442436:p.Arg406His					URI1_ENST00000542441.2_Missense_Mutation_p.R406H|URI1_ENST00000312051.6_Missense_Mutation_p.R366H|URI1_ENST00000360605.4_Missense_Mutation_p.R388H	p.R330H	NM_003796.3	NP_003787.2	O94763	RMP_HUMAN			10	1514	+			406					A8K805|H7BY42|Q8TC23|Q9UNU3	Missense_Mutation	SNP	ENST00000542441.2	37	c.989G>A	CCDS12420.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.482760	0.63962	0.0	1.16E-4	ENSG00000105176	ENST00000360605;ENST00000392271;ENST00000542441;ENST00000312051	T	0.60040	0.22	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.59418	0.2192	L	0.51422	1.61	0.80722	D	1	P;P;P	0.52577	0.894;0.954;0.901	P;B;B	0.44673	0.457;0.269;0.184	T	0.63695	-0.6579	10	0.59425	D	0.04	-12.3638	19.4888	0.95042	0.0:0.0:1.0:0.0	.	366;406;403	F8W9T0;O94763;Q8TC23	.;RMP_HUMAN;.	H	404;330;406;366	ENSP00000442436:R406H	ENSP00000312530:R366H	R	+	2	0	C19orf2	35195070	1.000000	0.71417	0.992000	0.48379	0.021000	0.10359	9.148000	0.94652	2.607000	0.88179	0.585000	0.79938	CGC		0.408	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	NM_134447		51	167	0	0	0	0.048971	0	51	167				
OCA2	4948	broad.mit.edu	37	15	28235791	28235791	+	Silent	SNP	G	G	A			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr15:28235791G>A	ENST00000354638.3	-	10	1202	c.1047C>T	c.(1045-1047)atC>atT	p.I349I	OCA2_ENST00000353809.5_Intron|OCA2_ENST00000382996.2_Silent_p.I349I	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	349					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TTCTGTGCACGATCTGGAAAG	0.547									Oculocutaneous Albinism																													ENST00000354638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(1045-1047)atC>atT		oculocutaneous albinism II							136.0	115.0	122.0					15																	28235791		2203	4300	6503	SO:0001819	synonymous_variant	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28235791G>A		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1047C>T	15.37:g.28235791G>A						OCA2_ENST00000382996.2_Silent_p.I349I|OCA2_ENST00000353809.5_Intron	p.I349I	NM_000275.2	NP_000266.2	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	10	1202	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	349					Q15211|Q15212|Q96EN1|Q9UMI5	Silent	SNP	ENST00000354638.3	37	c.1047C>T	CCDS10020.1																																																																																				0.547	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		5	167	0	0	0	0.014758	0	5	167				
DNAJC14	85406	broad.mit.edu	37	12	56217271	56217271	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr12:56217271G>A	ENST00000357606.3	-	4	1718	c.1429C>T	c.(1429-1431)Cat>Tat	p.H477Y	DNAJC14_ENST00000317287.5_Missense_Mutation_p.H477Y|DNAJC14_ENST00000317269.3_Missense_Mutation_p.H477Y|RP11-762I7.5_ENST00000546837.1_Missense_Mutation_p.S106L|RP11-762I7.5_ENST00000552719.1_5'Flank			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	477	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						GCCCGGGGATGATGATTTTTG	0.443																																						ENST00000357606.3																			0				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						c.(1429-1431)Cat>Tat		DnaJ (Hsp40) homolog, subfamily C, member 14							86.0	81.0	83.0					12																	56217271		2203	4300	6503	SO:0001583	missense	85406				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:56217271G>A	AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.1429C>T	12.37:g.56217271G>A	ENSP00000350223:p.His477Tyr					DNAJC14_ENST00000317287.5_Missense_Mutation_p.H477Y|DNAJC14_ENST00000317269.3_Missense_Mutation_p.H477Y|RP11-762I7.5_ENST00000546837.1_Missense_Mutation_p.S106L	p.H477Y			Q6Y2X3	DJC14_HUMAN			4	1718	-			477			J.		A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	ENST00000357606.3	37	c.1429C>T	CCDS8894.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.2|24.2	4.501305|4.501305	0.85176|0.85176	.|.	.|.	ENSG00000135392|ENSG00000257390	ENST00000357606;ENST00000317269;ENST00000537962;ENST00000317287|ENST00000546837	T;T;T|.	0.22743|.	1.94;1.94;1.94|.	5.85|5.85	5.85|5.85	0.93711|0.93711	Heat shock protein DnaJ, N-terminal (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71108|0.71108	0.3301|0.3301	L|L	0.53617|0.53617	1.68|1.68	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.55172|.	0.97;0.97|.	D;D|.	0.71184|.	0.972;0.972|.	T|T	0.65886|0.65886	-0.6059|-0.6059	10|5	0.19590|.	T|.	0.45|.	-12.1978|-12.1978	18.0364|18.0364	0.89305|0.89305	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	477;477|.	Q6Y2X3;A8K5A7|.	DJC14_HUMAN;.|.	Y|L	477;477;187;477|106	ENSP00000350223:H477Y;ENSP00000316240:H477Y;ENSP00000317500:H477Y|.	ENSP00000316240:H477Y|.	H|S	-|-	1|2	0|0	DNAJC14|RP11-762I7.5	54503538|54503538	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.916000|0.916000	0.54674|0.54674	9.081000|9.081000	0.94049|0.94049	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CAT|TCA		0.443	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1	NM_032364		3	80	0	0	0	0.009096	0	3	80				
GDAP2	54834	broad.mit.edu	37	1	118441728	118441728	+	Silent	SNP	C	C	A			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr1:118441728C>A	ENST00000369443.5	-	7	996	c.747G>T	c.(745-747)gtG>gtT	p.V249V	GDAP2_ENST00000464026.1_5'UTR|GDAP2_ENST00000369442.3_Silent_p.V249V	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	249					response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		GTTCAGGTACCACAGGCTCCC	0.438																																						ENST00000369443.4																			0				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16						c.(745-747)gtG>gtT		ganglioside induced differentiation associated protein 2							166.0	157.0	160.0					1																	118441728		2203	4300	6503	SO:0001819	synonymous_variant	54834							g.chr1:118441728C>A	AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505			18010	protein-coding gene	gene with protein product						1021725	Standard	NM_017686		Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.747G>T	1.37:g.118441728C>A						GDAP2_ENST00000464026.1_5'UTR|GDAP2_ENST00000369442.3_Silent_p.V249V	p.V249V	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)	7	996	-		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)	249					Q96DZ0	Silent	SNP	ENST00000369443.5	37	c.747G>T	CCDS897.1																																																																																				0.438	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033732.2	NM_017686		61	128	1	0	5.39075e-54	0.048971	7.18766e-54	61	128				
TP53	7157	broad.mit.edu	37	17	7577532	7577532	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr17:7577532G>A	ENST00000269305.4	-	7	938	c.749C>T	c.(748-750)cCc>cTc	p.P250L	TP53_ENST00000445888.2_Missense_Mutation_p.P250L|TP53_ENST00000413465.2_Missense_Mutation_p.P250L|TP53_ENST00000359597.4_Missense_Mutation_p.P250L|TP53_ENST00000455263.2_Missense_Mutation_p.P250L|TP53_ENST00000420246.2_Missense_Mutation_p.P250L|TP53_ENST00000574684.1_5'Flank	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	250	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P250L(45)|p.0?(8)|p.?(5)|p.P250H(4)|p.P250F(3)|p.P250N(2)|p.M246_P250delMNRRP(2)|p.P250_L252delPIL(2)|p.P250Q(2)|p.R248_P250delRRP(1)|p.P250_T253delPILT(1)|p.N247_P250delNRRP(1)|p.R249_P250delRP(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_I251delRPI(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)	GGTGAGGATGGGCCTCCGGTT	0.577		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		80	Substitution - Missense(56)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(1)	p.P250L(45)|p.0?(8)|p.?(5)|p.P250H(4)|p.P250F(3)|p.P250N(2)|p.M246_P250delMNRRP(2)|p.P250_L252delPIL(2)|p.P250Q(2)|p.R248_P250delRRP(1)|p.P250_T253delPILT(1)|p.N247_P250delNRRP(1)|p.R249_P250delRP(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_I251delRPI(1)	large_intestine(14)|lung(10)|breast(10)|upper_aerodigestive_tract(5)|biliary_tract(5)|skin(5)|ovary(5)|stomach(4)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|oesophagus(3)|liver(2)|urinary_tract(1)|eye(1)|peritoneum(1)|pancreas(1)|thyroid(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	CM973401	TP53	M		c.(748-750)cCc>cTc	Other conserved DNA damage response genes	tumor protein p53							154.0	112.0	126.0					17																	7577532		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.chr17:7577532G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.749C>T	17.37:g.7577532G>A	ENSP00000269305:p.Pro250Leu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.P250L|TP53_ENST00000269305.4_Missense_Mutation_p.P250L|TP53_ENST00000359597.4_Missense_Mutation_p.P250L|TP53_ENST00000413465.2_Missense_Mutation_p.P250L|TP53_ENST00000455263.2_Missense_Mutation_p.P250L	p.P250L	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	881	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	250		P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		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.749C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504438	0.85176	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99885	-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5	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	0.99898	0.9951	M	0.91406	3.205	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;0.996;0.998;0.998;1.0	D	0.96045	0.9027	10	0.87932	D	0	-1.5308	15.3618	0.74483	0.0:0.0:1.0:0.0	.	250;250;250;250;250	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	L	250;250;250;250;250;250;239;118	ENSP00000410739:P250L;ENSP00000352610:P250L;ENSP00000269305:P250L;ENSP00000398846:P250L;ENSP00000391127:P250L;ENSP00000391478:P250L;ENSP00000425104:P118L	ENSP00000269305:P250L	P	-	2	0	TP53	7518257	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	9.601000	0.98297	2.564000	0.86499	0.462000	0.41574	CCC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		40	15	0	0	0	0.042209	0	40	15				
WDFY3	23001	broad.mit.edu	37	4	85600267	85600267	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr4:85600267C>T	ENST00000295888.4	-	65	10359	c.9952G>A	c.(9952-9954)Gca>Aca	p.A3318T	WDFY3_ENST00000322366.6_Missense_Mutation_p.A3301T	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3318	Interaction with ATG5.|Interaction with SQSTM1.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GCGGCTGTTGCGCGGCAGGAG	0.582																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(9901-9903)Gca>Aca		WD repeat and FYVE domain containing 3							51.0	51.0	51.0					4																	85600267		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85600267C>T	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.9952G>A	4.37:g.85600267C>T	ENSP00000295888:p.Ala3318Thr					WDFY3_ENST00000295888.4_Missense_Mutation_p.A3318T	p.A3301T			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	64	10308	-		Hepatocellular(203;0.114)	3318					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.9901G>A	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.307491	0.23821	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.64438	-0.1;-0.1	4.82	4.82	0.62117	WD40 repeat-like-containing domain (1);	0.158992	0.53938	D	0.000041	T	0.44685	0.1305	N	0.12182	0.205	0.44175	D	0.996981	B	0.09022	0.002	B	0.04013	0.001	T	0.33007	-0.9885	10	0.15952	T	0.53	.	18.0974	0.89494	0.0:1.0:0.0:0.0	.	3318	Q8IZQ1	WDFY3_HUMAN	T	3301;3318	ENSP00000318466:A3301T;ENSP00000295888:A3318T	ENSP00000295888:A3318T	A	-	1	0	WDFY3	85819291	0.992000	0.36948	0.191000	0.23289	0.003000	0.03518	2.890000	0.48609	2.488000	0.83962	0.655000	0.94253	GCA		0.582	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		26	35	0	0	0	0.091800	0	26	35				
PLEKHA8	84725	broad.mit.edu	37	7	30092391	30092391	+	Silent	SNP	C	C	T			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr7:30092391C>T	ENST00000449726.1	+	7	1055	c.705C>T	c.(703-705)atC>atT	p.I235I	PLEKHA8_ENST00000396257.2_Silent_p.I235I|PLEKHA8_ENST00000396259.1_Silent_p.I235I|PLEKHA8_ENST00000258679.7_Silent_p.I235I	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	235					ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						AGGAAGAAATCCTAATGAAAA	0.308																																						ENST00000449726.1																			0				breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						c.(703-705)atC>atT		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8							29.0	30.0	29.0					7																	30092391		2194	4285	6479	SO:0001819	synonymous_variant	84725				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr7:30092391C>T	BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"""Pleckstrin homology (PH) domain containing"""	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000449726.1:c.705C>T	7.37:g.30092391C>T						PLEKHA8_ENST00000258679.7_Silent_p.I235I|PLEKHA8_ENST00000396259.1_Silent_p.I235I|PLEKHA8_ENST00000396257.2_Silent_p.I235I	p.I235I	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN			7	1055	+			235					B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Silent	SNP	ENST00000449726.1	37	c.705C>T	CCDS56473.1																																																																																				0.308	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032639		21	106	0	0	0	0.055883	0	21	106				
CELF2	10659	broad.mit.edu	37	10	11363181	11363181	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr10:11363181C>G	ENST00000379261.4	+	11	1179	c.1087C>G	c.(1087-1089)Ctg>Gtg	p.L363V	CELF2_ENST00000399850.3_Missense_Mutation_p.L345V|CELF2_ENST00000608830.1_Missense_Mutation_p.L343V|CELF2_ENST00000354897.3_Missense_Mutation_p.L357V|CELF2_ENST00000542579.1_Missense_Mutation_p.L376V|CELF2_ENST00000450189.1_Missense_Mutation_p.L376V|CELF2_ENST00000609692.1_Missense_Mutation_p.L343V|CELF2_ENST00000417956.2_Missense_Mutation_p.L343V|CELF2_ENST00000416382.2_Missense_Mutation_p.L363V|CELF2_ENST00000315874.4_Missense_Mutation_p.L345V|CELF2_ENST00000354440.2_Missense_Mutation_p.L345V|CELF2_ENST00000537122.1_Missense_Mutation_p.L258V|CELF2_ENST00000427450.1_Missense_Mutation_p.L345V|CELF2-AS1_ENST00000379256.3_RNA	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	363	Ala-rich.|Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						TATGGCGGCTCTGAATGGAGG	0.502																																						ENST00000379261.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						c.(1087-1089)Ctg>Gtg		CUGBP, Elav-like family member 2							124.0	120.0	121.0					10																	11363181		2034	4199	6233	SO:0001583	missense	10659				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr10:11363181C>G	U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"""RNA binding motif (RRM) containing"""	2550	protein-coding gene	gene with protein product		602538	"""CUG triplet repeat, RNA-binding protein 2"", ""CUG triplet repeat, RNA binding protein 2"""	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.1087C>G	10.37:g.11363181C>G	ENSP00000368563:p.Leu363Val					CELF2_ENST00000399850.3_Missense_Mutation_p.L345V|CELF2_ENST00000354440.2_Missense_Mutation_p.L345V|CELF2_ENST00000427450.1_Missense_Mutation_p.L345V|CELF2_ENST00000450189.1_Missense_Mutation_p.L376V|CELF2_ENST00000354897.3_Missense_Mutation_p.L357V|CELF2_ENST00000416382.2_Missense_Mutation_p.L363V|CELF2_ENST00000417956.2_Missense_Mutation_p.L343V|CELF2_ENST00000542579.1_Missense_Mutation_p.L376V|CELF2_ENST00000315874.3_Missense_Mutation_p.L345V|CELF2_ENST00000537122.1_Missense_Mutation_p.L258V	p.L363V	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN			11	1179	+			363			Ala-rich.|Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Missense_Mutation	SNP	ENST00000379261.4	37	c.1087C>G	CCDS44354.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.588758	0.46110	.	.	ENSG00000048740	ENST00000379261;ENST00000416382;ENST00000450189;ENST00000542579;ENST00000399850;ENST00000417956;ENST00000315874;ENST00000354440;ENST00000354897;ENST00000427450;ENST00000537122;ENST00000538632	T;T;T;T;T;T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34	5.33	5.33	0.75918	.	0.137897	0.49916	D	0.000132	T	0.61451	0.2348	L	0.58101	1.795	0.58432	D	0.999995	B;B;B;B;B;B	0.32302	0.058;0.115;0.117;0.363;0.167;0.102	B;B;B;B;B;B	0.31245	0.094;0.126;0.035;0.096;0.053;0.064	T	0.59705	-0.7404	10	0.34782	T	0.22	-12.3066	12.583	0.56401	0.0:0.9248:0.0:0.0752	.	351;369;364;376;376;363	B4DDE7;B4DS31;B2RA86;E9PC62;O95319-3;O95319	.;.;.;.;.;CELF2_HUMAN	V	363;363;376;376;345;343;345;345;353;345;258;169	ENSP00000368563:L363V;ENSP00000406451:L363V;ENSP00000389951:L376V;ENSP00000443926:L376V;ENSP00000382743:L345V;ENSP00000404834:L343V;ENSP00000315328:L345V;ENSP00000346426:L345V;ENSP00000388530:L345V;ENSP00000438884:L258V	ENSP00000315328:L345V	L	+	1	2	CELF2	11403187	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.878000	0.56130	2.789000	0.95967	0.558000	0.71614	CTG		0.502	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding				4	132	0	0	0	0.009096	0	4	132				
OR51F2	119694	broad.mit.edu	37	11	4843405	4843405	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr11:4843405A>G	ENST00000322110.5	+	1	855	c.790A>G	c.(790-792)Atc>Gtc	p.I264V	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTGTTTCCATCTTCTACCT	0.478																																						ENST00000322110.5																			0				breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33						c.(790-792)Atc>Gtc		olfactory receptor, family 51, subfamily F, member 2							277.0	187.0	218.0					11																	4843405		2201	4298	6499	SO:0001583	missense	119694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4843405A>G	BK004281	CCDS31361.1	11p15.4	2012-08-09			ENSG00000176925	ENSG00000176925		"""GPCR / Class A : Olfactory receptors"""	15197	protein-coding gene	gene with protein product							Standard	NM_001004753		Approved		uc010qyn.2	Q8NH61	OTTHUMG00000066508	ENST00000322110.5:c.790A>G	11.37:g.4843405A>G	ENSP00000323952:p.Ile264Val					MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.I264V	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	855	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	264					Q6IFI1	Missense_Mutation	SNP	ENST00000322110.5	37	c.790A>G	CCDS31361.1	.	.	.	.	.	.	.	.	.	.	A	9.355	1.066443	0.20067	.	.	ENSG00000176925	ENST00000322110	T	0.00107	8.72	4.61	3.44	0.39384	GPCR, rhodopsin-like superfamily (1);	0.405503	0.17786	U	0.162054	T	0.00109	0.0003	L	0.31476	0.935	0.27901	N	0.938984	B	0.27559	0.181	B	0.35114	0.196	T	0.01848	-1.1261	10	0.27082	T	0.32	.	5.1986	0.15252	0.7547:0.0:0.088:0.1573	.	264	Q8NH61	O51F2_HUMAN	V	264	ENSP00000323952:I264V	ENSP00000323952:I264V	I	+	1	0	OR51F2	4799981	0.000000	0.05858	0.999000	0.59377	0.957000	0.61999	-0.282000	0.08445	0.850000	0.35239	0.459000	0.35465	ATC		0.478	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142181.1	NM_001004753		27	49	0	0	0	0.091800	0	27	49				
CCDC82	79780	broad.mit.edu	37	11	96092275	96092275	+	Missense_Mutation	SNP	A	A	T			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr11:96092275A>T	ENST00000278520.5	-	8	1876	c.1448T>A	c.(1447-1449)tTc>tAc	p.F483Y	CCDC82_ENST00000542662.1_Missense_Mutation_p.F483Y|CCDC82_ENST00000423339.2_Missense_Mutation_p.F483Y			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	483										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		GTATAGTTTGAATTTAAAATG	0.343																																						ENST00000278520.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19						c.(1447-1449)tTc>tAc		coiled-coil domain containing 82							117.0	116.0	117.0					11																	96092275		2201	4297	6498	SO:0001583	missense	79780						protein binding	g.chr11:96092275A>T	AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.1448T>A	11.37:g.96092275A>T	ENSP00000278520:p.Phe483Tyr					CCDC82_ENST00000423339.2_Missense_Mutation_p.F483Y|CCDC82_ENST00000542662.1_Missense_Mutation_p.F483Y	p.F483Y			Q8N4S0	CCD82_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.154)	8	1876	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	483					B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Missense_Mutation	SNP	ENST00000278520.5	37	c.1448T>A	CCDS8307.1	.	.	.	.	.	.	.	.	.	.	A	6.439	0.449219	0.12223	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339	T;T;T	0.10960	2.82;2.82;2.82	5.78	4.53	0.55603	.	0.063418	0.64402	D	0.000005	T	0.04724	0.0128	N	0.11818	0.18	0.32446	N	0.546061	B	0.02656	0.0	B	0.04013	0.001	T	0.23404	-1.0189	10	0.02654	T	1	-11.7999	8.4749	0.33007	0.6789:0.0:0.0:0.3211	.	483	Q8N4S0	CCD82_HUMAN	Y	483	ENSP00000278520:F483Y;ENSP00000444010:F483Y;ENSP00000397156:F483Y	ENSP00000278520:F483Y	F	-	2	0	CCDC82	95731923	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.196000	0.42686	2.333000	0.79357	0.533000	0.62120	TTC		0.343	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2	NM_024725		31	81	0	0	0	0.045705	0	31	81				
SMARCA4	6597	broad.mit.edu	37	19	11132435	11132435	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr19:11132435A>G	ENST00000429416.3	+	20	2932	c.2651A>G	c.(2650-2652)cAc>cGc	p.H884R	SMARCA4_ENST00000358026.2_Missense_Mutation_p.H884R|SMARCA4_ENST00000590574.1_Missense_Mutation_p.H884R|SMARCA4_ENST00000444061.3_Missense_Mutation_p.H884R|SMARCA4_ENST00000413806.3_Missense_Mutation_p.H884R|SMARCA4_ENST00000589677.1_Missense_Mutation_p.H884R|SMARCA4_ENST00000450717.3_Missense_Mutation_p.H884R|SMARCA4_ENST00000541122.2_Missense_Mutation_p.H884R|SMARCA4_ENST00000344626.4_Missense_Mutation_p.H884R	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	884	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.H884P(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GACGAAGGTCACCGCATGAAG	0.622			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		2	Substitution - Missense(1)|Unknown(1)	p.H884P(1)|p.?(1)	lung(1)|central_nervous_system(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(2650-2652)cAc>cGc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							82.0	64.0	70.0					19																	11132435		2202	4300	6502	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11132435A>G	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2651A>G	19.37:g.11132435A>G	ENSP00000395654:p.His884Arg					SMARCA4_ENST00000450717.3_Missense_Mutation_p.H884R|SMARCA4_ENST00000413806.3_Missense_Mutation_p.H884R|SMARCA4_ENST00000344626.4_Missense_Mutation_p.H884R|SMARCA4_ENST00000541122.2_Missense_Mutation_p.H884R|SMARCA4_ENST00000590574.1_Missense_Mutation_p.H884R|SMARCA4_ENST00000589677.1_Missense_Mutation_p.H884R|SMARCA4_ENST00000444061.3_Missense_Mutation_p.H884R|SMARCA4_ENST00000429416.3_Missense_Mutation_p.H884R	p.H884R	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			19	2935	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	884			Helicase ATP-binding.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.2651A>G	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.397831	0.83120	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.98313	-4.86;-4.86;-4.86;-4.86;-4.86;-4.86;-4.86	4.66	4.66	0.58398	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.99378	0.9781	H	0.98901	4.365	0.80722	D	1	D;D;D;P;P;D;D;D	0.89917	0.975;0.975;0.975;0.933;0.592;1.0;0.975;0.975	P;P;P;P;P;D;P;P	0.76575	0.838;0.838;0.838;0.759;0.449;0.988;0.838;0.838	D	0.98260	1.0498	10	0.87932	D	0	-53.571	13.2208	0.59885	1.0:0.0:0.0:0.0	.	884;884;884;884;884;104;884;884	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	R	884;884;948;884;884;884;884;884	ENSP00000395654:H884R;ENSP00000350720:H884R;ENSP00000343896:H884R;ENSP00000445036:H884R;ENSP00000392837:H884R;ENSP00000397783:H884R;ENSP00000414727:H884R	ENSP00000343896:H884R	H	+	2	0	SMARCA4	10993435	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	9.139000	0.94554	1.964000	0.57103	0.533000	0.62120	CAC		0.622	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		10	21	0	0	0	0.080935	0	10	21				
RNASEH1	246243	broad.mit.edu	37	2	3608120	3608120	+	5'Flank	DEL	T	T	-	rs200893700|rs201494170		TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr2:3608120delT	ENST00000315212.3	-	0	0				AC108488.3_ENST00000426725.1_RNA|AC108488.3_ENST00000438436.1_RNA	NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1						mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		ccttccttccttccttccttc	0.413																																						ENST00000438436.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr2:3608120delT	AF039652	CCDS1647.1	2p25	2008-03-11			ENSG00000171865	ENSG00000171865	3.1.26.-		18466	protein-coding gene	gene with protein product	"""RNase H1"""	604123				12036296, 17964265	Standard	XR_244873		Approved		uc002qxt.3	O60930	OTTHUMG00000090279		2.37:g.3608120delT	Exception_encountered					AC108488.3_ENST00000426725.1_RNA		NR_038429.1						0	789	+								B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	RNA	DEL	ENST00000315212.3	37		CCDS1647.1																																																																																				0.413	RNASEH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206605.2			2	4						2	4	---	---	---	---
CTC-535M15.2	0	broad.mit.edu	37	5	165019311	165019314	+	lincRNA	DEL	GAAG	GAAG	-	rs58381846|rs149499764|rs112356683	byFrequency	TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr5:165019311_165019314delGAAG	ENST00000522189.1	+	0	21																											aggaaggaaagaaggaaggaagga	0.319														726	0.144968	0.2496	0.111	5008	,	,		17275	0.0258		0.1123	False		,,,				2504	0.184					ENST00000522189.1																			0																																																			0							g.chr5:165019311_165019314delGAAG																													5.37:g.165019319_165019322delGAAG														0	21	+									RNA	DEL	ENST00000522189.1	37																																																																																						0.319	CTC-535M15.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000376060.1			4	3						4	3	---	---	---	---
SLTM	79811	broad.mit.edu	37	15	59182564	59182565	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr15:59182564_59182565delCT	ENST00000380516.2	-	15	2081_2082	c.1994_1995delAG	c.(1993-1995)gagfs	p.E665fs	AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Frame_Shift_Del_p.E234fs	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	665	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTTCTAGGCGCTCTCTCTCTCT	0.475																																						ENST00000380516.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1993-1995)gfs		SAFB-like, transcription modulator																																				SO:0001589	frameshift_variant	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59182564_59182565delCT	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.1994_1995delAG	15.37:g.59182574_59182575delCT	ENSP00000369887:p.Glu665fs					SLTM_ENST00000536328.1_Frame_Shift_Del_p.E234fs|AC025918.2_ENST00000452467.1_RNA	p.E665fs	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN			15	2081_2082	-			665			Arg/Glu-rich.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Frame_Shift_Del	DEL	ENST00000380516.2	37	c.1994_1995delAG	CCDS10168.2																																																																																				0.475	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		8	236						8	236	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102299886	102299887	+	RNA	INS	-	-	G	rs199996275	byFrequency	TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr15:102299886_102299887insG	ENST00000561463.1	+	0	7932_7933									DNM1 pseudogene 47																		AACCTGTACTCGCGTCGGAACC	0.589													|||unknown(NO_COVERAGE)	758	0.151358	0.2511	0.1167	5008	,	,		74102	0.0595		0.163	False		,,,				2504	0.1237					ENST00000561463.1																			0																																																			0							g.chr15:102299886_102299887insG	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102299887_102299887dupG														0	7932_7933	+									RNA	INS	ENST00000561463.1	37																																																																																						0.589	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	4						4	4	---	---	---	---
CCDC64B	146439	broad.mit.edu	37	16	3078744	3078744	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr16:3078744delC	ENST00000572449.1	-	8	1257	c.1195delG	c.(1195-1197)gccfs	p.A399fs	CCDC64B_ENST00000389347.4_Frame_Shift_Del_p.A399fs|CCDC64B_ENST00000573514.1_Frame_Shift_Del_p.A192fs			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	399										breast(1)|endometrium(2)|large_intestine(1)	4						CTGTGCAGGGCCTCCCCAGGG	0.667																																						ENST00000573514.1																			0				breast(1)|endometrium(2)|large_intestine(1)	4						c.(574-576)ccfs		coiled-coil domain containing 64B							30.0	41.0	37.0					16																	3078744		2037	4157	6194	SO:0001589	frameshift_variant	146439							g.chr16:3078744delC	BC128602	CCDS45393.1	16p13.3	2008-07-04				ENSG00000162069			33584	protein-coding gene	gene with protein product							Standard	NM_001103175		Approved		uc002ctf.4	A1A5D9		ENST00000572449.1:c.1195delG	16.37:g.3078744delC	ENSP00000459043:p.Ala399fs					CCDC64B_ENST00000389347.4_Frame_Shift_Del_p.A399fs|CCDC64B_ENST00000572449.1_Frame_Shift_Del_p.A399fs	p.A192fs			A1A5D9	BICR2_HUMAN			6	2764	-			399					Q658L9	Frame_Shift_Del	DEL	ENST00000572449.1	37	c.574delG	CCDS45393.1																																																																																				0.667	CCDC64B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436991.1			2	4						2	4	---	---	---	---
TK2	7084	broad.mit.edu	37	16	66551051	66551053	+	In_Frame_Del	DEL	CTT	CTT	-	rs281865501		TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr16:66551051_66551053delCTT	ENST00000451102.2	-	8	954_956	c.604_606delAAG	c.(604-606)aagdel	p.K202del	TK2_ENST00000417693.3_In_Frame_Del_p.K184del|TK2_ENST00000544898.1_In_Frame_Del_p.K153del|RP11-403P17.5_ENST00000561728.1_In_Frame_Del_p.E18del|TK2_ENST00000563369.2_In_Frame_Del_p.K105del|TK2_ENST00000299697.7_In_Frame_Del_p.K244del|TK2_ENST00000564917.1_In_Frame_Del_p.K202del|TK2_ENST00000527800.1_In_Frame_Del_p.K105del|TK2_ENST00000527284.1_In_Frame_Del_p.K171del|TK2_ENST00000545043.2_In_Frame_Del_p.K177del|TK2_ENST00000525974.1_In_Frame_Del_p.K105del			O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial	202					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|DNA replication (GO:0006260)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|thymidine kinase activity (GO:0004797)			large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		GCGGAATGACCTTCTCCTCTTCC	0.512											OREG0032067	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)																										ENST00000299697.7																			0				large_intestine(1)|lung(2)|urinary_tract(1)	4	GRCh37	CD035105	TK2	D		c.(730-732)del		thymidine kinase 2, mitochondrial																																				SO:0001651	inframe_deletion	7084				pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity	g.chr16:66551051_66551053delCTT		CCDS10805.1, CCDS10805.2, CCDS54016.1, CCDS54017.1, CCDS54018.1, CCDS61955.1	16q22-q23.1	2012-10-02			ENSG00000166548	ENSG00000166548	2.7.1.21		11831	protein-coding gene	gene with protein product		188250					Standard	NM_004614		Approved		uc002eos.3	O00142	OTTHUMG00000137499	ENST00000451102.2:c.604_606delAAG	16.37:g.66551051_66551053delCTT	ENSP00000414334:p.Lys202del		OREG0032067	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	1092	RP11-403P17.5_ENST00000561728.1_In_Frame_Del_p.EG18del|TK2_ENST00000563369.2_In_Frame_Del_p.K105del|TK2_ENST00000451102.2_In_Frame_Del_p.K202del|TK2_ENST00000417693.3_In_Frame_Del_p.K184del|TK2_ENST00000545043.2_In_Frame_Del_p.K177del|TK2_ENST00000527800.1_In_Frame_Del_p.K105del|TK2_ENST00000527284.1_In_Frame_Del_p.K171del|TK2_ENST00000525974.1_In_Frame_Del_p.K105del|TK2_ENST00000564917.1_In_Frame_Del_p.K202del|TK2_ENST00000544898.1_In_Frame_Del_p.K153del	p.K244del	NM_001172644.1|NM_001172645.1|NM_001271934.1|NM_001271935.1|NM_001272050.1|NM_004614.4	NP_001166115.1|NP_001166116.1|NP_001258863.1|NP_001258864.1|NP_001258979.1|NP_004605.4	O00142	KITM_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)	8	954_956	-		Ovarian(137;0.0563)	202					B4DGJ7|B4DZK7|B7ZAB1|E9PH08|O15238	In_Frame_Del	DEL	ENST00000451102.2	37	c.730_732delAAG	CCDS10805.2																																																																																				0.512	TK2-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268806.4			10	485						10	485	---	---	---	---
KRT20	54474	broad.mit.edu	37	17	39034595	39034596	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr17:39034595_39034596delAG	ENST00000167588.3	-	6	981_982	c.940_941delCT	c.(940-942)ctafs	p.L314fs		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	314	Coil 2.|Rod.				apoptotic process (GO:0006915)|cellular response to stress (GO:0033554)|intermediate filament organization (GO:0045109)|regulation of protein secretion (GO:0050708)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				GGTCTCCTCTAGAGTGTGCTCC	0.46																																						ENST00000167588.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14						c.(940-942)afs		keratin 20																																				SO:0001589	frameshift_variant	54474				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39034595_39034596delAG	BC031559	CCDS11379.1	17q21.2	2013-01-16			ENSG00000171431	ENSG00000171431		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	20412	protein-coding gene	gene with protein product		608218				8359595, 12515621, 16831889	Standard	NM_019010		Approved	CK20, K20, MGC35423	uc002hvl.3	P35900	OTTHUMG00000133366	ENST00000167588.3:c.940_941delCT	17.37:g.39034597_39034598delAG	ENSP00000167588:p.Leu314fs						p.L314fs	NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN			6	981_982	-		Breast(137;0.000301)|Ovarian(249;0.15)	314			Coil 2.|Rod.		B2R6W7	Frame_Shift_Del	DEL	ENST00000167588.3	37	c.940_941delCT	CCDS11379.1																																																																																				0.460	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257202.2			30	86						30	86	---	---	---	---
CD177	57126	broad.mit.edu	37	19	43865786	43865786	+	RNA	DEL	G	G	-			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr19:43865786delG	ENST00000607109.1	-	0	300				CD177_ENST00000378009.4_RNA|CD177_ENST00000607517.1_RNA																							ctggactcctgggtctgaggg	0.662																																						ENST00000378009.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5								CD177 molecule																																						57126				blood coagulation|leukocyte migration	anchored to membrane|plasma membrane		g.chr19:43865786delG																													19.37:g.43865786delG						CTC-490G23.4_ENST00000607109.1_RNA|CD177_ENST00000607517.1_RNA		NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN			0	1242	+		Prostate(69;0.00682)							RNA	DEL	ENST00000607109.1	37																																																																																						0.662	CTC-490G23.4-001	KNOWN	basic	antisense	antisense	OTTHUMT00000470165.1			2	4						2	4	---	---	---	---
