#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
PRKD3	23683	broad.mit.edu	37	2	37505102	37505102	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr2:37505102C>T	ENST00000379066.1	-	9	1965	c.1203G>A	c.(1201-1203)atG>atA	p.M401I	PRKD3_ENST00000234179.2_Missense_Mutation_p.M401I			O94806	KPCD3_HUMAN	protein kinase D3	401					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				GTACAACCCTCATTAGCGGAA	0.363																																					Melanoma(80;621 1355 8613 11814 51767)	ENST00000379066.1																			0				breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1201-1203)atG>atA		protein kinase D3							216.0	177.0	190.0					2																	37505102		2203	4300	6503	SO:0001583	missense	23683				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr2:37505102C>T	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.1203G>A	2.37:g.37505102C>T	ENSP00000368356:p.Met401Ile					PRKD3_ENST00000234179.2_Missense_Mutation_p.M401I	p.M401I			O94806	KPCD3_HUMAN			9	1965	-		all_hematologic(82;0.21)	401					D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	c.1203G>A	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	C	31	5.081823	0.94050	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	T;T	0.71341	-0.56;-0.56	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.81479	0.4831	M	0.71206	2.165	0.80722	D	1	P;P	0.45634	0.863;0.643	P;B	0.55222	0.771;0.441	T	0.82271	-0.0540	10	0.56958	D	0.05	-21.6567	19.1993	0.93704	0.0:1.0:0.0:0.0	.	401;401	O94806-2;O94806	.;KPCD3_HUMAN	I	401	ENSP00000368356:M401I;ENSP00000234179:M401I	ENSP00000234179:M401I	M	-	3	0	PRKD3	37358606	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.814000	0.86154	2.526000	0.85167	0.655000	0.94253	ATG		0.363	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		15	99	0	0	0	0.00244969	0	15	99				
ZNF383	163087	broad.mit.edu	37	19	37733547	37733547	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr19:37733547C>G	ENST00000589413.1	+	8	992	c.409C>G	c.(409-411)Cat>Gat	p.H137D	ZNF383_ENST00000352998.3_Missense_Mutation_p.H137D|ZNF383_ENST00000590503.1_Missense_Mutation_p.H137D			Q8NA42	ZN383_HUMAN	zinc finger protein 383	137					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCCAAATGGGCATTTTAGTCA	0.373																																						ENST00000589413.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15						c.(409-411)Cat>Gat		zinc finger protein 383							99.0	108.0	105.0					19																	37733547		2202	4300	6502	SO:0001583	missense	163087				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr19:37733547C>G	AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283		"""Zinc fingers, C2H2-type"", ""-"""	18609	protein-coding gene	gene with protein product							Standard	NM_152604		Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.409C>G	19.37:g.37733547C>G	ENSP00000464871:p.His137Asp					ZNF383_ENST00000352998.3_Missense_Mutation_p.H137D|ZNF383_ENST00000590503.1_Missense_Mutation_p.H137D	p.H137D			Q8NA42	ZN383_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		8	992	+			137					Q6X2C7	Missense_Mutation	SNP	ENST00000589413.1	37	c.409C>G	CCDS12501.1	.	.	.	.	.	.	.	.	.	.	C	8.913	0.959138	0.18507	.	.	ENSG00000188283	ENST00000352998	T	0.06294	3.32	3.71	3.71	0.42584	.	.	.	.	.	T	0.05456	0.0144	N	0.17345	0.48	0.22873	N	0.998626	B	0.26445	0.149	B	0.28232	0.087	T	0.36792	-0.9733	9	0.34782	T	0.22	.	13.3444	0.60564	0.0:1.0:0.0:0.0	.	137	Q8NA42	ZN383_HUMAN	D	137	ENSP00000340132:H137D	ENSP00000340132:H137D	H	+	1	0	ZNF383	42425387	0.005000	0.15991	0.906000	0.35671	0.681000	0.39784	0.267000	0.18552	2.073000	0.62155	0.563000	0.77884	CAT		0.373	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458141.1	NM_152604		49	109	0	0	0	0.000781405	0	49	109				
CASZ1	54897	broad.mit.edu	37	1	10714479	10714479	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr1:10714479C>T	ENST00000377022.3	-	10	2152	c.1835G>A	c.(1834-1836)tGc>tAc	p.C612Y	CASZ1_ENST00000344008.5_Missense_Mutation_p.C612Y|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	612					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CGCTTACCTGCAGTGGAAGTG	0.652																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(1834-1836)tGc>tAc		castor zinc finger 1							86.0	80.0	82.0					1																	10714479		2203	4300	6503	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10714479C>T	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1835G>A	1.37:g.10714479C>T	ENSP00000366221:p.Cys612Tyr					CASZ1_ENST00000344008.5_Missense_Mutation_p.C612Y	p.C612Y	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	10	2152	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	612					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.1835G>A	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	C	30	5.050467	0.93740	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.87	4.87	0.63330	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	D	0.84074	0.5392	M	0.86028	2.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.91635	0.999;0.999;0.997	D	0.87064	0.2155	9	0.87932	D	0	.	18.4056	0.90535	0.0:1.0:0.0:0.0	.	636;612;612	B7Z1S3;Q86V15-2;Q86V15	.;.;CASZ1_HUMAN	Y	612	.	ENSP00000339445:C612Y	C	-	2	0	CASZ1	10637066	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.372000	0.79612	2.421000	0.82119	0.561000	0.74099	TGC		0.652	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		24	51	0	0	0	0.00229938	0	24	51				
KRTAP5-2	440021	broad.mit.edu	37	11	1619556	1619556	+	5'Flank	SNP	T	T	C			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr11:1619556T>C	ENST00000412090.1	-	0	0				KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2							keratin filament (GO:0045095)				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TCCCTGAGCCTGGGCTCTTTA	0.522																																						ENST00000424148.1																			0																																																	SO:0001631	upstream_gene_variant	338651							g.chr11:1619556T>C	AB126071	CCDS31331.1	11p15.5	2008-02-05				ENSG00000205867		"""Keratin associated proteins"""	23597	protein-coding gene	gene with protein product						15144888	Standard	NM_001004325		Approved	KRTAP5.2, KRTAP5-8	uc001ltv.3	Q701N4			11.37:g.1619556T>C	Exception_encountered							NR_021489.1						0	1407	+								A9JTZ1	RNA	SNP	ENST00000412090.1	37		CCDS31331.1																																																																																				0.522	KRTAP5-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384775.1	NM_001004325		4	84	0	0	0	0.000978159	0	4	84				
SNHG14	104472715	broad.mit.edu	37	15	25417850	25417850	+	RNA	SNP	T	T	A			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr15:25417850T>A	ENST00000441592.2	+	0	0				SNORD115-1_ENST00000364961.1_RNA|SNORD115-3_ENST00000363100.1_RNA|SNHG14_ENST00000553149.1_RNA|SNORD115-2_ENST00000362842.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		CTCAATAGGATTATGCTGAGG	0.517																																						ENST00000549301.1																			0																				273.0	285.0	281.0					15																	25417850		876	1989	2865			104472715							g.chr15:25417850T>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25417850T>A						SNORD115-2_ENST00000362842.1_RNA|SNHG14_ENST00000553149.1_RNA								0	503	+									RNA	SNP	ENST00000441592.2	37																																																																																						0.517	SNHG14-009	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126736.3			81	154	0	0	0	0.000781405	0	81	154				
BLNK	29760	broad.mit.edu	37	10	97987176	97987176	+	Silent	SNP	G	G	A			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr10:97987176G>A	ENST00000224337.5	-	5	492	c.351C>T	c.(349-351)ggC>ggT	p.G117G	BLNK_ENST00000413476.2_Silent_p.G117G|BLNK_ENST00000371176.2_Silent_p.G117G|BLNK_ENST00000427367.2_Silent_p.G117G	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	117	Pro-rich.				B cell differentiation (GO:0030183)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		CTATATACTCGCCTCTGGCGA	0.652																																						ENST00000224337.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14						c.(349-351)ggC>ggT		B-cell linker							72.0	66.0	68.0					10																	97987176		2203	4300	6503	SO:0001819	synonymous_variant	29760				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr10:97987176G>A	AF068180	CCDS7446.1, CCDS44464.1, CCDS58091.1, CCDS73171.1	10q23.2-q23.33	2014-09-17			ENSG00000095585	ENSG00000095585		"""SH2 domain containing"""	14211	protein-coding gene	gene with protein product	"""B-cell adapter containing a SH2 domain protein"", ""B-cell activation"", ""Src homology [SH2] domain-containing leukocyte protein of 65 kD"", ""B cell adaptor containing SH2 domain"""	604515				9697839, 10583958	Standard	NM_013314		Approved	SLP65, Ly57, SLP-65, BLNK-s, BASH, bca	uc001kls.4	Q8WV28	OTTHUMG00000018827	ENST00000224337.5:c.351C>T	10.37:g.97987176G>A						BLNK_ENST00000413476.2_Silent_p.G117G|BLNK_ENST00000371176.2_Silent_p.G117G|BLNK_ENST00000427367.2_Silent_p.G117G	p.G117G	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)	5	492	-		Colorectal(252;0.083)	117			Pro-rich.		O75498|O75499|Q2MD49	Silent	SNP	ENST00000224337.5	37	c.351C>T	CCDS7446.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.063781	0.36373	.	.	ENSG00000095585	ENST00000393889	.	.	.	5.83	2.72	0.32119	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.4359	0.21823	0.0894:0.0:0.4622:0.4484	.	.	.	.	.	-1	.	.	.	-	.	.	BLNK	97977166	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	0.524000	0.22940	0.813000	0.34350	0.555000	0.69702	.		0.652	BLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049593.1	NM_013314		35	61	0	0	0	0.00058488	0	35	61				
NWD1	284434	broad.mit.edu	37	19	16902349	16902349	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr19:16902349C>G	ENST00000552788.1	+	12	3129	c.3129C>G	c.(3127-3129)atC>atG	p.I1043M	NWD1_ENST00000339803.6_Missense_Mutation_p.I908M|NWD1_ENST00000379808.3_Missense_Mutation_p.I1043M|NWD1_ENST00000524140.2_Missense_Mutation_p.I1043M|NWD1_ENST00000523826.1_Missense_Mutation_p.I837M|NWD1_ENST00000549814.1_Missense_Mutation_p.I1043M			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1043							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGTCCAGCATCAAAGAAGAAA	0.517																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(3127-3129)atC>atG		NACHT and WD repeat domain containing 1							119.0	94.0	103.0					19																	16902349		2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16902349C>G	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3129C>G	19.37:g.16902349C>G	ENSP00000447224:p.Ile1043Met					NWD1_ENST00000552788.1_Missense_Mutation_p.I1043M|NWD1_ENST00000523826.1_Missense_Mutation_p.I837M|NWD1_ENST00000339803.6_Missense_Mutation_p.I908M|NWD1_ENST00000549814.1_Missense_Mutation_p.I1043M|NWD1_ENST00000379808.3_Missense_Mutation_p.I1043M	p.I1043M	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			14	3547	+			1043					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.3129C>G		.	.	.	.	.	.	.	.	.	.	C	6.711	0.499854	0.12762	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.57436	1.56;0.4;1.56;3.55;3.55;3.55	5.34	0.408	0.16377	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.971401	0.08498	N	0.936868	T	0.29093	0.0723	N	0.14661	0.345	0.09310	N	1	B;B;B	0.33448	0.412;0.003;0.004	B;B;B	0.29267	0.1;0.006;0.007	T	0.20739	-1.0266	10	0.45353	T	0.12	-9.2447	3.2181	0.06706	0.1588:0.3977:0.3454:0.0981	.	1043;1043;908	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	M	908;1043;1043;1043;837;1043;908	ENSP00000428579:I1043M;ENSP00000447548:I1043M;ENSP00000369136:I1043M;ENSP00000428955:I837M;ENSP00000447224:I1043M;ENSP00000340159:I908M	ENSP00000340159:I908M	I	+	3	3	NWD1	16763349	0.033000	0.19621	0.003000	0.11579	0.005000	0.04900	0.040000	0.13905	0.587000	0.29643	0.655000	0.94253	ATC		0.517	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		34	69	0	0	0	0.0024448	0	34	69				
ABO	28	broad.mit.edu	37	9	136132874	136132874	+	RNA	SNP	G	G	A			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr9:136132874G>A	ENST00000453660.2	-	0	306				RP11-430N14.4_ENST00000606717.1_RNA			P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation (GO:0006486)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosylgalactoside 3-alpha-galactosyltransferase activity (GO:0004381)|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity (GO:0004380)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		GATGTTGAATGTGCCCTCCCA	0.557																																						ENST00000453660.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11								ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)							117.0	133.0	128.0					9																	136132874		2132	4250	6382			28				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr9:136132874G>A	AF134415		9q34.2	2014-07-19			ENSG00000175164	ENSG00000175164	2.4.1.40, 2.4.1.37	"""Blood group antigens"", ""Glycosyltransferase family 6 domain containing"""	79	protein-coding gene	gene with protein product		110300				184030	Standard	NM_020469		Approved	A3GALNT, A3GALT1	uc004cda.1	P16442	OTTHUMG00000020872		9.37:g.136132874G>A										P16442	BGAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)	0	306	-								B0JDB9|O14758|Q14490|Q53I57|Q6ISD4|Q6KFZ2|Q70V27|Q99484|Q99485|Q9NY01|Q9UQ68|Q9UQ69	RNA	SNP	ENST00000453660.2	37																																																																																						0.557	ABO-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000054907.4	NM_020469		33	38	0	0	0	0.00209593	0	33	38				
ZNF737	100129842	broad.mit.edu	37	19	20728546	20728546	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr19:20728546G>C	ENST00000427401.4	-	4	557	c.463C>G	c.(463-465)Cat>Gat	p.H155D		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	155					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						GAAAATTTATGAATGACTTTC	0.308																																						ENST00000427401.4																			0				breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(463-465)Cat>Gat		zinc finger protein 737							37.0	28.0	30.0					19																	20728546		692	1589	2281	SO:0001583	missense	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20728546G>C	BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.463C>G	19.37:g.20728546G>C	ENSP00000395733:p.His155Asp						p.H155D	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN			4	557	-			155					C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	c.463C>G	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	g	2.502	-0.315002	0.05422	.	.	ENSG00000237440	ENST00000427401	T	0.49720	0.77	0.965	-1.12	0.09808	.	.	.	.	.	T	0.52500	0.1738	M	0.82517	2.595	0.09310	N	1	B	0.30068	0.267	B	0.41813	0.367	T	0.56086	-0.8037	9	0.48119	T	0.1	.	3.6402	0.08163	0.3417:0.0:0.6583:0.0	.	155	C9JHM3	.	D	155	ENSP00000395733:H155D	ENSP00000395733:H155D	H	-	1	0	ZNF737	20520386	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-1.138000	0.03216	-0.486000	0.06744	-0.482000	0.04802	CAT		0.308	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		17	29	0	0	0	0.000422831	0	17	29				
PKM	5315	broad.mit.edu	37	15	72501133	72501133	+	Missense_Mutation	SNP	G	G	A	rs143294717		TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr15:72501133G>A	ENST00000335181.5	-	6	768	c.665C>T	c.(664-666)tCg>tTg	p.S222L	PKM_ENST00000389093.3_Missense_Mutation_p.S222L|PKM_ENST00000568459.1_Missense_Mutation_p.S222L|PKM_ENST00000565154.1_Missense_Mutation_p.S222L|PKM_ENST00000449901.2_Missense_Mutation_p.S207L|PKM_ENST00000565184.1_Missense_Mutation_p.S222L|PKM_ENST00000319622.6_Missense_Mutation_p.S222L|PKM_ENST00000568883.1_Missense_Mutation_p.S57L	NM_002654.4	NP_002645.3	P14618	KPYM_HUMAN	pyruvate kinase, muscle	222					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|programmed cell death (GO:0012501)|small molecule metabolic process (GO:0044281)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			endometrium(1)|lung(7)	8					Pyruvic acid(DB00119)	GTCCTTCTCCGACACAGCAGG	0.547																																						ENST00000319622.6																			0				endometrium(1)|lung(7)	8						c.(664-666)tCg>tTg		pyruvate kinase, muscle		G	LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER	1,4397	2.1+/-5.4	0,1,2198	101.0	92.0	95.0		887,443,620,680,665,665,665	5.2	0.9	15	dbSNP_134	95	0,8594		0,0,4297	yes	missense,missense,missense,missense,missense,missense,missense	PKM2	NM_001206796.1,NM_001206797.1,NM_001206798.1,NM_001206799.1,NM_002654.4,NM_182470.2,NM_182471.2	145,145,145,145,145,145,145	0,1,6495	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	296/606,148/458,207/517,227/537,222/532,222/532,222/532	72501133	1,12991	2199	4297	6496	SO:0001583	missense	5315							g.chr15:72501133G>A	M23725	CCDS32284.1, CCDS32285.1, CCDS55972.1, CCDS73752.1	15q23	2012-10-02		2012-05-23	ENSG00000067225	ENSG00000067225	2.7.1.40		9021	protein-coding gene	gene with protein product		179050		PKM2		2040271	Standard	NM_002654		Approved	THBP1, OIP3, PK3	uc002atr.1	P14618	OTTHUMG00000172709	ENST00000335181.5:c.665C>T	15.37:g.72501133G>A	ENSP00000334983:p.Ser222Leu					PKM_ENST00000389093.3_Missense_Mutation_p.S222L|PKM_ENST00000568883.1_Missense_Mutation_p.S57L|PKM_ENST00000568459.1_Missense_Mutation_p.S222L|PKM_ENST00000565184.1_Missense_Mutation_p.S222L|PKM_ENST00000335181.5_Missense_Mutation_p.S222L|PKM_ENST00000449901.2_Missense_Mutation_p.S207L|PKM_ENST00000565154.1_Missense_Mutation_p.S222L	p.S222L	NM_001206796.1|NM_182470.2|NM_182471.2	NP_001193725.1|NP_872270.1|NP_872271.1					6	1121	-								A6NFK3|B2R5N8|B3KRY0|B4DFX8|B4DUU6|P14786|Q53GK4|Q96E76|Q9BWB5|Q9UCV6|Q9UPF2	Missense_Mutation	SNP	ENST00000335181.5	37	c.665C>T	CCDS32284.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.988151	0.74589	2.27E-4	0.0	ENSG00000067225	ENST00000319622;ENST00000335181;ENST00000434220;ENST00000327974;ENST00000389093;ENST00000449901	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.24	5.24	0.73138	Pyruvate/Phosphoenolpyruvate kinase (2);Pyruvate kinase, barrel (1);	0.000000	0.85682	D	0.000000	D	0.84534	0.5493	H	0.95780	3.72	0.80722	D	1	D;P;P;D;P;P;P	0.54047	0.964;0.779;0.689;0.963;0.799;0.487;0.951	P;B;B;P;P;B;P	0.53490	0.727;0.369;0.171;0.545;0.482;0.107;0.489	D	0.89466	0.3740	10	0.87932	D	0	-14.1948	19.1812	0.93623	0.0:0.0:1.0:0.0	.	148;207;202;202;222;222;57	B4DNK4;B4DUU6;B4DRT3;E7EUQ8;P14618;P14618-2;Q504U3	.;.;.;.;KPYM_HUMAN;.;.	L	222;222;149;57;222;207	ENSP00000320171:S222L;ENSP00000334983:S222L;ENSP00000373745:S222L;ENSP00000403365:S207L	ENSP00000320171:S222L	S	-	2	0	PKM2	70288187	1.000000	0.71417	0.945000	0.38365	0.353000	0.29299	7.823000	0.86660	2.601000	0.87937	0.650000	0.86243	TCG		0.547	PKM-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420056.1			36	78	0	0	0	0.000814825	0	36	78				
PLEKHO1	51177	broad.mit.edu	37	1	150129105	150129105	+	Splice_Site	SNP	G	G	T			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr1:150129105G>T	ENST00000369124.4	+	4	597	c.319G>T	c.(319-321)Gca>Tca	p.A107S	PLEKHO1_ENST00000025469.6_Splice_Site_p.A107S|PLEKHO1_ENST00000369126.1_5'UTR|PLEKHO1_ENST00000479194.1_3'UTR	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	107	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCCTCACAGGCACCCAACCT	0.478																																						ENST00000369124.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22						c.e4-1		pleckstrin homology domain containing, family O member 1							87.0	85.0	86.0					1																	150129105		2203	4300	6503	SO:0001630	splice_region_variant	51177					cytoplasm|nucleus|plasma membrane		g.chr1:150129105G>T	AF073836	CCDS945.1	1q21.2	2013-01-10			ENSG00000023902	ENSG00000023902		"""Pleckstrin homology (PH) domain containing"""	24310	protein-coding gene	gene with protein product		608335				10799509	Standard	NM_016274		Approved	CKIP-1, OC120	uc001ett.3	Q53GL0	OTTHUMG00000012510	ENST00000369124.4:c.319-1G>T	1.37:g.150129105G>T						PLEKHO1_ENST00000479194.1_3'UTR|PLEKHO1_ENST00000369126.1_5'UTR|PLEKHO1_ENST00000025469.6_Splice_Site_p.A107_splice	p.A107_splice	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		4	597	+	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		107			PH.		Q336K5|Q8IZ51|Q9NRV3|Q9UL48	Splice_Site	SNP	ENST00000369124.4	37	c.318_splice	CCDS945.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111960	0.77210	.	.	ENSG00000023902	ENST00000025469;ENST00000369124	T;T	0.22336	1.96;1.96	4.7	4.7	0.59300	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.170326	0.52532	D	0.000071	T	0.09202	0.0227	N	0.25647	0.755	0.80722	D	1	P	0.39094	0.659	B	0.38880	0.284	T	0.14531	-1.0469	9	.	.	.	-11.5906	17.1577	0.86795	0.0:0.0:1.0:0.0	.	107	Q53GL0	PKHO1_HUMAN	S	107	ENSP00000025469:A107S;ENSP00000358120:A107S	.	A	+	1	0	PLEKHO1	148395729	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.639000	0.74314	2.599000	0.87857	0.561000	0.74099	GCA		0.478	PLEKHO1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034962.1	NM_016274	Missense_Mutation	10	64	1	0	3.07112e-06	0.000978159	3.98758e-05	10	64				
POLR2B	5431	broad.mit.edu	37	4	57896547	57896547	+	Silent	SNP	C	C	T			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr4:57896547C>T	ENST00000381227.1	+	25	3830	c.3417C>T	c.(3415-3417)ggC>ggT	p.G1139G	POLR2B_ENST00000441246.2_Silent_p.G1132G|POLR2B_ENST00000314595.5_Silent_p.G1139G|IGFBP7_ENST00000512512.1_5'Flank|POLR2B_ENST00000431623.2_Silent_p.G1064G			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	1139					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AATGCAGGGGCTGCCGCAATA	0.433																																						ENST00000381227.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52						c.(3415-3417)ggC>ggT		polymerase (RNA) II (DNA directed) polypeptide B, 140kDa							49.0	50.0	50.0					4																	57896547		2203	4300	6503	SO:0001819	synonymous_variant	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57896547C>T		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.3417C>T	4.37:g.57896547C>T						POLR2B_ENST00000431623.2_Silent_p.G1064G|POLR2B_ENST00000441246.2_Silent_p.G1132G|POLR2B_ENST00000314595.5_Silent_p.G1139G	p.G1139G			P30876	RPB2_HUMAN			25	3830	+	Glioma(25;0.08)|all_neural(26;0.181)		1139					A8K1A8|Q8IZ61	Silent	SNP	ENST00000381227.1	37	c.3417C>T	CCDS3511.1																																																																																				0.433	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		17	20	0	0	0	0.000422831	0	17	20				
UBE3B	89910	broad.mit.edu	37	12	109972570	109972570	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr12:109972570G>T	ENST00000342494.3	+	28	3785	c.3190G>T	c.(3190-3192)Ggc>Tgc	p.G1064C	UBE3B_ENST00000434735.2_Missense_Mutation_p.G1064C	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	1064	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CATGAACACGGGCTTTGAACT	0.617																																						ENST00000342494.3																			0				NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						c.(3190-3192)Ggc>Tgc		ubiquitin protein ligase E3B							99.0	87.0	91.0					12																	109972570		2203	4300	6503	SO:0001583	missense	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109972570G>T	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.3190G>T	12.37:g.109972570G>T	ENSP00000340596:p.Gly1064Cys					UBE3B_ENST00000434735.2_Missense_Mutation_p.G1064C	p.G1064C	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN			28	3785	+			1064			HECT.		A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	ENST00000342494.3	37	c.3190G>T	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732897	0.89482	.	.	ENSG00000151148	ENST00000434735;ENST00000342494	T;T	0.63255	-0.03;-0.03	4.78	4.78	0.61160	HECT (3);	0.000000	0.85682	D	0.000000	D	0.88171	0.6365	H	0.99312	4.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93249	0.6633	10	0.87932	D	0	-6.9724	16.9865	0.86341	0.0:0.0:1.0:0.0	.	1064	Q7Z3V4	UBE3B_HUMAN	C	1064	ENSP00000391529:G1064C;ENSP00000340596:G1064C	ENSP00000340596:G1064C	G	+	1	0	UBE3B	108456953	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	9.172000	0.94808	2.474000	0.83562	0.563000	0.77884	GGC		0.617	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		5	91	1	0	0.000602214	0.000602214	0.00746381	5	91				
ATR	545	broad.mit.edu	37	3	142176456	142176456	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr3:142176456G>T	ENST00000350721.4	-	45	7766	c.7645C>A	c.(7645-7647)Cct>Act	p.P2549T	ATR_ENST00000383101.3_Missense_Mutation_p.P2485T	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2549	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CTCATTAAAGGCTCTCGCTGA	0.373								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(7645-7647)Cct>Act	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							88.0	83.0	85.0					3																	142176456		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142176456G>T	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.7645C>A	3.37:g.142176456G>T	ENSP00000343741:p.Pro2549Thr					ATR_ENST00000383101.3_Missense_Mutation_p.P2485T	p.P2549T	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			45	7766	-			2549			PI3K/PI4K.		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.7645C>A	CCDS3124.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.425|5.425	0.263567|0.263567	0.10294|0.10294	.|.	.|.	ENSG00000175054|ENSG00000175054	ENST00000513291|ENST00000350721;ENST00000383101	.|T;T	.|0.75154	.|-0.91;-0.91	5.2|5.2	5.2|5.2	0.72013|0.72013	.|Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.46521|0.46521	0.1397|0.1397	N|N	0.00690|0.00690	-1.25|-1.25	0.80722|0.80722	D|D	1|1	.|P	.|0.39696	.|0.683	.|B	.|0.41412	.|0.356	T|T	0.60255|0.60255	-0.7299|-0.7299	5|10	.|0.05833	.|T	.|0.94	-19.1449|-19.1449	19.0895|19.0895	0.93221|0.93221	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2549	.|Q13535	.|ATR_HUMAN	D|T	395|2549;2485	.|ENSP00000343741:P2549T;ENSP00000372581:P2485T	.|ENSP00000343741:P2549T	A|P	-|-	2|1	0|0	ATR|ATR	143659146|143659146	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.868000|0.868000	0.49771|0.49771	8.009000|8.009000	0.88606|0.88606	2.600000|2.600000	0.87896|0.87896	0.484000|0.484000	0.47621|0.47621	GCC|CCT		0.373	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		40	38	1	0	1.22674e-20	0.00195071	1.70081e-19	40	38				
CELF1	10658	broad.mit.edu	37	11	47510570	47510570	+	5'Flank	SNP	C	C	T			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr11:47510570C>T	ENST00000358597.3	-	0	0				CELF1_ENST00000395292.2_5'UTR|CELF1_ENST00000395290.2_5'UTR|CELF1_ENST00000532048.1_Silent_p.K26K|CELF1_ENST00000531165.1_Silent_p.K26K|CELF1_ENST00000310513.5_5'UTR|CELF1_ENST00000361904.3_5'UTR			Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1						embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of translation (GO:0017148)|positive regulation of multicellular organism growth (GO:0040018)|regulation of RNA splicing (GO:0043484)|RNA interference (GO:0016246)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation repressor activity, nucleic acid binding (GO:0000900)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						CGTTCATTTTCTTTGAGCTGT	0.403																																					Pancreas(163;1949 1966 9906 43218 43785)	ENST00000531165.1																			0				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						c.(76-78)aaG>aaA		CUGBP, Elav-like family member 1							71.0	73.0	73.0					11																	47510570		2201	4298	6499	SO:0001631	upstream_gene_variant	10658				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr11:47510570C>T	U63289	CCDS7938.1, CCDS7939.1, CCDS31482.1, CCDS53622.1, CCDS53623.1	11p11	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	2549	protein-coding gene	gene with protein product	"""CUG RNA-binding protein"", ""nuclear polyadenylated RNA-binding protein, 50-kD"", ""bruno-like 2"", ""embryo deadenylation element binding protein"""	601074	"""CUG triplet repeat, RNA-binding protein 1"", ""CUG triplet repeat, RNA binding protein 1"""	CUGBP1		8948631, 9371827	Standard	NM_006560		Approved	CUG-BP, hNab50, BRUNOL2, NAB50, CUGBP, NAPOR, EDEN-BP	uc001nfl.3	Q92879			11.37:g.47510570C>T	Exception_encountered					CELF1_ENST00000395292.2_5'UTR|CELF1_ENST00000532048.1_Silent_p.K26K|CELF1_ENST00000361904.3_5'UTR|CELF1_ENST00000395290.2_5'UTR|CELF1_ENST00000310513.5_5'UTR	p.K26K			Q92879	CELF1_HUMAN			4	356	-			0			RRM 1.		B4E2U5|D3DQS0|F8W940|Q4LE52|Q9NP83|Q9NR06	Silent	SNP	ENST00000358597.3	37	c.78G>A	CCDS31482.1																																																																																				0.403	CELF1-024	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398352.1	NM_006560		7	60	0	0	0	0.00198382	0	7	60				
NXPH2	11249	broad.mit.edu	37	2	139429083	139429083	+	Silent	SNP	G	G	A			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr2:139429083G>A	ENST00000272641.3	-	2	310	c.204C>T	c.(202-204)ccC>ccT	p.P68P		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	68	II.				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		CCATGGGGCCGGGCTTGGGCA	0.552																																						ENST00000272641.3																			0				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22						c.(202-204)ccC>ccT		neurexophilin 2							113.0	111.0	112.0					2																	139429083		1919	4134	6053	SO:0001819	synonymous_variant	11249				neuropeptide signaling pathway	extracellular region		g.chr2:139429083G>A	AF043467	CCDS46421.1	2q22.1	2008-05-15			ENSG00000144227	ENSG00000144227			8076	protein-coding gene	gene with protein product		604635				9570794	Standard	NM_007226		Approved	NPH2	uc002tvi.3	O95156	OTTHUMG00000153636	ENST00000272641.3:c.204C>T	2.37:g.139429083G>A							p.P68P	NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.101)	2	310	-			68			II.		B7WP24|Q494R1|Q75QC3	Silent	SNP	ENST00000272641.3	37	c.204C>T	CCDS46421.1																																																																																				0.552	NXPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331901.1			52	107	0	0	0	0.000781405	0	52	107				
EGFR	1956	broad.mit.edu	37	7	55210002	55210002	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr7:55210002C>G	ENST00000275493.2	+	2	289	c.112C>G	c.(112-114)Ctc>Gtc	p.L38V	EGFR_ENST00000342916.3_Missense_Mutation_p.L38V|EGFR_ENST00000442591.1_Missense_Mutation_p.L38V|EGFR_ENST00000455089.1_Missense_Mutation_p.L38V|EGFR_ENST00000454757.2_5'UTR|EGFR_ENST00000420316.2_Missense_Mutation_p.L38V|EGFR_ENST00000344576.2_Missense_Mutation_p.L38V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	38			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GAGTAACAAGCTCACGCAGTT	0.408		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(112-114)Ctc>Gtc		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						162.0	150.0	154.0					7																	55210002		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55210002C>G		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.112C>G	7.37:g.55210002C>G	ENSP00000275493:p.Leu38Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000342916.3_Missense_Mutation_p.L38V|EGFR_ENST00000442591.1_Missense_Mutation_p.L38V|EGFR_ENST00000454757.2_5'UTR|EGFR_ENST00000420316.2_Missense_Mutation_p.L38V|EGFR_ENST00000344576.2_Missense_Mutation_p.L38V|EGFR_ENST00000455089.1_Missense_Mutation_p.L38V	p.L38V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		2	289	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		38					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.112C>G	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742749	0.69418	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591	T;D;D;D;D;D	0.82803	-1.26;-1.65;-1.65;-1.65;-1.65;-1.65	6.05	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.88890	0.6560	M	0.76838	2.35	0.80722	D	1	D;D;P;D;D	0.76494	0.969;0.999;0.938;0.983;0.987	P;D;P;P;D	0.72338	0.589;0.977;0.749;0.893;0.937	D	0.88575	0.3132	10	0.66056	D	0.02	.	7.0822	0.25237	0.0:0.789:0.0:0.211	.	38;38;38;38;38	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	V	38	ENSP00000415559:L38V;ENSP00000342376:L38V;ENSP00000345973:L38V;ENSP00000413843:L38V;ENSP00000275493:L38V;ENSP00000410031:L38V	ENSP00000275493:L38V	L	+	1	0	EGFR	55177496	0.799000	0.28903	1.000000	0.80357	0.889000	0.51656	0.191000	0.17076	2.878000	0.98634	0.650000	0.86243	CTC		0.408	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		33	62	0	0	0	0.00209593	0	33	62				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		4	54	0	0	0	0.00024832	0	4	54				
ENO2	2026	broad.mit.edu	37	12	7025014	7025014	+	Silent	SNP	C	C	T			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr12:7025014C>T	ENST00000535366.1	+	1	644	c.18C>T	c.(16-18)atC>atT	p.I6I	ENO2_ENST00000544774.1_Silent_p.I6I|ENO2_ENST00000545045.2_Silent_p.I6I|ENO2_ENST00000541477.1_Silent_p.I6I|ENO2_ENST00000229277.1_Silent_p.I6I|ENO2_ENST00000538763.1_Silent_p.I6I			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	6					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perikaryon (GO:0043204)|phosphopyruvate hydratase complex (GO:0000015)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TAGAGAAGATCTGGGCCCGGG	0.577																																						ENST00000535366.1																			0				endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(16-18)atC>atT		enolase 2 (gamma, neuronal)							112.0	125.0	121.0					12																	7025014		2203	4300	6503	SO:0001819	synonymous_variant	2026				gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity	g.chr12:7025014C>T	M22349	CCDS8570.1	12p13	2012-10-02				ENSG00000111674	4.2.1.11		3353	protein-coding gene	gene with protein product		131360					Standard	NM_001975		Approved		uc001qru.1	P09104		ENST00000535366.1:c.18C>T	12.37:g.7025014C>T						ENO2_ENST00000544774.1_Silent_p.I6I|ENO2_ENST00000229277.1_Silent_p.I6I|ENO2_ENST00000541477.1_Silent_p.I6I|ENO2_ENST00000538763.1_Silent_p.I6I|ENO2_ENST00000545045.2_Silent_p.I6I	p.I6I			P09104	ENOG_HUMAN			1	644	+			6					B7Z2X9|Q96J33	Silent	SNP	ENST00000535366.1	37	c.18C>T	CCDS8570.1																																																																																				0.577	ENO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401786.1			64	282	0	0	0	0.000781405	0	64	282				
PCGF3	10336	broad.mit.edu	37	4	755159	755159	+	Silent	SNP	G	G	A			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr4:755159G>A	ENST00000362003.5	+	9	950	c.555G>A	c.(553-555)ctG>ctA	p.L185L	PCGF3_ENST00000470161.2_Silent_p.L185L|RP11-440L14.1_ENST00000503571.1_RNA|PCGF3_ENST00000521023.2_Silent_p.L151L|PCGF3_ENST00000505655.2_Silent_p.L185L	NM_006315.4	NP_006306.2	Q3KNV8	PCGF3_HUMAN	polycomb group ring finger 3	185					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						TCTTGCATCTGAAGAAGTTCA	0.498																																						ENST00000362003.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						c.(553-555)ctG>ctA		polycomb group ring finger 3							80.0	85.0	83.0					4																	755159		1953	4145	6098	SO:0001819	synonymous_variant	10336				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding	g.chr4:755159G>A	AK093869	CCDS3339.2	4p16.3	2013-01-09	2005-01-17	2005-01-19	ENSG00000185619	ENSG00000185619		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	10066	protein-coding gene	gene with protein product			"""ring finger protein 3"""	RNF3			Standard	XM_005272250		Approved	FLJ36550, DONG1, RNF3A, MGC40413	uc003gbe.3	Q3KNV8	OTTHUMG00000119000	ENST00000362003.5:c.555G>A	4.37:g.755159G>A						PCGF3_ENST00000505655.2_Silent_p.L185L|PCGF3_ENST00000521023.2_Silent_p.L151L|PCGF3_ENST00000470161.2_Silent_p.L185L	p.L185L	NM_006315.4	NP_006306.2	Q3KNV8	PCGF3_HUMAN			9	950	+			185					D3DVN1|O15262	Silent	SNP	ENST00000362003.5	37	c.555G>A	CCDS3339.2																																																																																				0.498	PCGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239197.2	NM_006315		6	67	0	0	0	0.00116845	0	6	67				
BTNL8	79908	broad.mit.edu	37	5	180335857	180335857	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr5:180335857G>T	ENST00000340184.4	+	2	527	c.321G>T	c.(319-321)ttG>ttT	p.L107F	Y_RNA_ENST00000410920.1_RNA|BTNL8_ENST00000231229.4_Missense_Mutation_p.L107F|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000505126.1_5'Flank|BTNL8_ENST00000508408.1_Missense_Mutation_p.L107F|BTNL8_ENST00000533815.2_5'Flank|BTNL8_ENST00000511704.1_Intron	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	107	Ig-like V-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTACTGTGTTGGATGCTGGCC	0.473																																						ENST00000231229.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28						c.(319-321)ttG>ttT		butyrophilin-like 8							214.0	218.0	217.0					5																	180335857		2203	4296	6499	SO:0001583	missense	79908					integral to membrane		g.chr5:180335857G>T	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.321G>T	5.37:g.180335857G>T	ENSP00000342197:p.Leu107Phe					BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000508408.1_Missense_Mutation_p.L107F|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000340184.4_Missense_Mutation_p.L107F	p.L107F	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	555	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	107			Ig-like V-type 1.		A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	37	c.321G>T	CCDS43413.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.015095	0.35511	.	.	ENSG00000113303	ENST00000231229;ENST00000340184;ENST00000508408	T;T;T	0.02606	4.23;4.23;4.23	2.74	-3.19	0.05171	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03220	0.0094	N	0.13098	0.295	0.09310	N	1	D;D;D	0.67145	0.996;0.996;0.975	D;D;P	0.63488	0.915;0.915;0.767	T	0.34675	-0.9819	9	0.14656	T	0.56	.	4.0324	0.09714	0.4867:0.0:0.3495:0.1637	.	107;107;107	F2Z2B2;A6NEX6;Q6UX41	.;.;BTNL8_HUMAN	F	107	ENSP00000231229:L107F;ENSP00000342197:L107F;ENSP00000424585:L107F	ENSP00000231229:L107F	L	+	3	2	BTNL8	180268463	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-3.451000	0.00466	-0.639000	0.05502	0.436000	0.28706	TTG		0.473	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		13	207	1	0	1.49906e-05	0.00244969	0.000191598	13	207				
PCNXL3	399909	broad.mit.edu	37	11	65402557	65402557	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr11:65402557C>T	ENST00000355703.3	+	30	5458	c.4919C>T	c.(4918-4920)gCg>gTg	p.A1640V	MIR4690_ENST00000578459.1_RNA	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1640						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CGCGTTGTGGCGCCTGGGGTT	0.647																																						ENST00000355703.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						c.(4918-4920)gCg>gTg		pecanex-like 3 (Drosophila)							51.0	54.0	53.0					11																	65402557		2123	4231	6354	SO:0001583	missense	399909					integral to membrane		g.chr11:65402557C>T	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.4919C>T	11.37:g.65402557C>T	ENSP00000347931:p.Ala1640Val						p.A1640V	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN			30	5458	+			1640					Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	c.4919C>T	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827133	0.50739	.	.	ENSG00000197136	ENST00000355703	T	0.53423	0.62	4.28	4.28	0.50868	.	0.064524	0.64402	D	0.000009	T	0.29355	0.0731	L	0.43598	1.365	0.42626	D	0.993361	B;P	0.46706	0.373;0.883	B;B	0.34038	0.054;0.174	T	0.08269	-1.0730	10	0.14252	T	0.57	.	7.9619	0.30076	0.0:0.8905:0.0:0.1095	.	527;1640	Q9H6A9-3;Q9H6A9	.;PCX3_HUMAN	V	1640	ENSP00000347931:A1640V	ENSP00000347931:A1640V	A	+	2	0	PCNXL3	65159133	0.977000	0.34250	0.928000	0.36995	0.847000	0.48162	2.378000	0.44309	2.234000	0.73211	0.563000	0.77884	GCG		0.647	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		10	26	0	0	0	0.000978159	0	10	26				
SARNP	84324	broad.mit.edu	37	12	56182870	56182870	+	Missense_Mutation	SNP	T	T	C	rs138765992		TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr12:56182870T>C	ENST00000336133.3	-	9	544	c.490A>G	c.(490-492)Atc>Gtc	p.I164V	SARNP_ENST00000444631.2_Missense_Mutation_p.I104V|RP11-762I7.5_ENST00000546837.1_Missense_Mutation_p.N476S|SARNP_ENST00000552080.1_Missense_Mutation_p.I164V	NM_033082.3	NP_149073.1	P82979	SARNP_HUMAN	SAP domain containing ribonucleoprotein	164					mRNA export from nucleus (GO:0006406)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	intracellular membrane-bounded organelle (GO:0043231)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	6						TTTCTGGAGATTGAAGAGACA	0.368																																						ENST00000546837.1																			0											c.(1426-1428)aAt>aGt				T	VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	113.0	103.0	106.0		490	3.9	1.0	12	dbSNP_134	106	0,8600		0,0,4300	no	missense	SARNP	NM_033082.3	29	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign	164/211	56182870	1,13005	2203	4300	6503	SO:0001583	missense	84324							g.chr12:56182870T>C	AJ409089	CCDS8892.1	12q13.2	2009-07-09				ENSG00000205323			24432	protein-coding gene	gene with protein product	"""hepatocellular carcinoma 1"", ""cytokine induced protein 29 kDa"""	610049				11356193, 11922608	Standard	NM_033082		Approved	THO1, Hcc-1, CIP29		P82979	OTTHUMG00000170441	ENST00000336133.3:c.490A>G	12.37:g.56182870T>C	ENSP00000337632:p.Ile164Val					SARNP_ENST00000552080.1_Missense_Mutation_p.I164V|SARNP_ENST00000336133.3_Missense_Mutation_p.I164V|SARNP_ENST00000444631.2_Missense_Mutation_p.I104V	p.N476S							14	1426	-								A8K393|Q9P066	Missense_Mutation	SNP	ENST00000336133.3	37	c.1427A>G	CCDS8892.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	1.508|1.508	-0.550269|-0.550269	0.03996|0.03996	2.27E-4|2.27E-4	0.0|0.0	ENSG00000205323|ENSG00000257390	ENST00000444631;ENST00000336133;ENST00000552080|ENST00000546837	.|.	.|.	.|.	4.99|4.99	3.87|3.87	0.44632|0.44632	.|.	0.308918|.	0.37304|.	N|.	0.002142|.	T|T	0.11367|0.11367	0.0277|0.0277	N|N	0.01242|0.01242	-0.935|-0.935	0.30568|0.30568	N|N	0.763848|0.763848	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.12837|0.12837	-1.0532|-1.0532	9|5	0.02654|.	T|.	1|.	-16.7878|-16.7878	6.8802|6.8802	0.24168|0.24168	0.0:0.1004:0.0:0.8996|0.0:0.1004:0.0:0.8996	.|.	164|.	P82979|.	SARNP_HUMAN|.	V|S	104;164;164|476	.|.	ENSP00000337632:I164V|.	I|N	-|-	1|2	0|0	SARNP|RP11-762I7.5	54469137|54469137	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	1.389000|1.389000	0.34453|0.34453	2.234000|2.234000	0.73211|0.73211	0.460000|0.460000	0.39030|0.39030	ATC|AAT		0.368	SARNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409159.2	NM_033082		30	70	0	0	0	0.001512	0	30	70				
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933		TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr21:11058353T>C	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							20.0	18.0	19.0					21																	11058353		692	1589	2281			85319							g.chr21:11058353T>C	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058353T>C												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.343	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	89	0	0	0	0.000602214	0	4	89				
ARMCX2	9823	broad.mit.edu	37	X	100911661	100911661	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chrX:100911661T>C	ENST00000328766.5	-	5	1367	c.914A>G	c.(913-915)gAc>gGc	p.D305G	ARMCX2_ENST00000356824.4_Missense_Mutation_p.D305G|ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000330154.2_Missense_Mutation_p.D305G	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	305						integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CCCCAGTTCGTCTACTTCAAC	0.587																																						ENST00000328766.5																			0				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						c.(913-915)gAc>gGc		armadillo repeat containing, X-linked 2							129.0	140.0	136.0					X																	100911661		2203	4300	6503	SO:0001583	missense	9823					integral to membrane	binding	g.chrX:100911661T>C	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.914A>G	X.37:g.100911661T>C	ENSP00000331662:p.Asp305Gly					ARMCX2_ENST00000356824.4_Missense_Mutation_p.D305G|ARMCX2_ENST00000330154.2_Missense_Mutation_p.D305G	p.D305G	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN			5	1367	-			305					O60267|Q5H9D9	Missense_Mutation	SNP	ENST00000328766.5	37	c.914A>G	CCDS14490.1	.	.	.	.	.	.	.	.	.	.	T	16.18	3.049992	0.55218	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824	T;T;T	0.48522	0.81;0.81;0.81	4.32	4.32	0.51571	.	0.000000	0.41001	D	0.000961	T	0.49830	0.1580	N	0.19112	0.55	0.40022	D	0.975426	D	0.63880	0.993	D	0.72338	0.977	T	0.49093	-0.8975	10	0.34782	T	0.22	-14.186	11.0096	0.47654	0.0:0.0:0.0:1.0	.	305	Q7L311	ARMX2_HUMAN	G	305	ENSP00000331662:D305G;ENSP00000328631:D305G;ENSP00000349281:D305G	ENSP00000331662:D305G	D	-	2	0	ARMCX2	100798317	0.989000	0.36119	0.886000	0.34754	0.799000	0.45148	2.819000	0.48049	1.673000	0.50895	0.345000	0.21793	GAC		0.587	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		64	27	0	0	0	0.000781405	0	64	27				
HEPACAM	220296	broad.mit.edu	37	11	124794765	124794765	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr11:124794765G>C	ENST00000298251.4	-	2	691	c.286C>G	c.(286-288)Cga>Gga	p.R96G		NM_152722.4	NP_689935.2			hepatic and glial cell adhesion molecule									p.R96*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		ATACGGTCTCGATAGTCAGGC	0.592																																						ENST00000298251.4																			1	Substitution - Nonsense(1)	p.R96*(1)	pancreas(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(286-288)Cga>Gga		hepatic and glial cell adhesion molecule							142.0	125.0	131.0					11																	124794765		2201	4299	6500	SO:0001583	missense	220296				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane		g.chr11:124794765G>C	AK098396	CCDS8456.1	11q24.2	2013-01-29	2011-02-11		ENSG00000165478	ENSG00000165478		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26361	protein-coding gene	gene with protein product	"""glial cell adhesion molecule"""	611642	"""hepatocyte cell adhesion molecule"""			15885354, 15917256	Standard	NM_152722		Approved	FLJ25530, hepaCAM, GLIALCAM	uc001qbk.3	Q14CZ8	OTTHUMG00000165938	ENST00000298251.4:c.286C>G	11.37:g.124794765G>C	ENSP00000298251:p.Arg96Gly						p.R96G	NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)	2	691	-	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	96			Ig-like V-type.			Missense_Mutation	SNP	ENST00000298251.4	37	c.286C>G	CCDS8456.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854224	0.71719	.	.	ENSG00000165478	ENST00000298251;ENST00000374961	T	0.65178	-0.14	5.84	4.92	0.64577	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.055536	0.64402	D	0.000001	T	0.75554	0.3865	M	0.69823	2.125	0.40107	D	0.976445	D;D	0.63880	0.987;0.993	P;D	0.64144	0.889;0.922	T	0.78460	-0.2195	10	0.54805	T	0.06	-8.3946	13.6568	0.62344	0.0:0.0:0.6018:0.3981	.	96;96	Q14CZ8-2;Q14CZ8	.;HECAM_HUMAN	G	96	ENSP00000298251:R96G	ENSP00000298251:R96G	R	-	1	2	HEPACAM	124299975	0.997000	0.39634	0.987000	0.45799	0.971000	0.66376	1.881000	0.39638	1.454000	0.47793	0.563000	0.77884	CGA		0.592	HEPACAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387125.1	NM_152722		45	74	0	0	0	0.00222228	0	45	74				
STAC2	342667	broad.mit.edu	37	17	37371437	37371437	+	Silent	SNP	G	G	A			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr17:37371437G>A	ENST00000333461.5	-	5	1002	c.633C>T	c.(631-633)ggC>ggT	p.G211G		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	211					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						CCAGGGAGGTGCCATAGCGCA	0.592																																						ENST00000333461.5																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						c.(631-633)ggC>ggT		SH3 and cysteine rich domain 2							134.0	122.0	126.0					17																	37371437		2203	4300	6503	SO:0001819	synonymous_variant	342667				intracellular signal transduction		metal ion binding	g.chr17:37371437G>A	AJ608762	CCDS11335.1	17q21.2	2012-11-19			ENSG00000141750	ENSG00000141750			23990	protein-coding gene	gene with protein product							Standard	NM_198993		Approved	24b2	uc002hrs.3	Q6ZMT1	OTTHUMG00000179039	ENST00000333461.5:c.633C>T	17.37:g.37371437G>A							p.G211G	NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN			5	1002	-			211					Q32MA3	Silent	SNP	ENST00000333461.5	37	c.633C>T	CCDS11335.1																																																																																				0.592	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444533.2	NM_198993		32	59	0	0	0	0.000814825	0	32	59				
BTNL8	79908	broad.mit.edu	37	5	180335874	180335874	+	Missense_Mutation	SNP	G	G	T	rs529094290		TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr5:180335874G>T	ENST00000340184.4	+	2	544	c.338G>T	c.(337-339)gGg>gTg	p.G113V	Y_RNA_ENST00000410920.1_RNA|BTNL8_ENST00000231229.4_Missense_Mutation_p.G113V|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000505126.1_5'Flank|BTNL8_ENST00000508408.1_Missense_Mutation_p.G113V|BTNL8_ENST00000533815.2_5'Flank|BTNL8_ENST00000511704.1_Intron	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	113	Ig-like V-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCCTCTATGGGTGCAGGATT	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		18316	0.0		0.0	False		,,,				2504	0.001					ENST00000231229.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28						c.(337-339)gGg>gTg		butyrophilin-like 8							203.0	210.0	207.0					5																	180335874		2203	4296	6499	SO:0001583	missense	79908					integral to membrane		g.chr5:180335874G>T	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.338G>T	5.37:g.180335874G>T	ENSP00000342197:p.Gly113Val					BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000508408.1_Missense_Mutation_p.G113V|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000340184.4_Missense_Mutation_p.G113V	p.G113V	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	572	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	113			Ig-like V-type 1.		A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	37	c.338G>T	CCDS43413.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.715032	0.30413	.	.	ENSG00000113303	ENST00000231229;ENST00000340184;ENST00000508408	T;T;T	0.64618	-0.11;-0.11;-0.11	2.74	1.85	0.25348	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64843	0.2635	L	0.42245	1.32	0.09310	N	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.995	T	0.52343	-0.8588	9	0.17369	T	0.5	.	4.7484	0.13049	0.3105:0.0:0.6895:0.0	.	113;113;113	F2Z2B2;A6NEX6;Q6UX41	.;.;BTNL8_HUMAN	V	113	ENSP00000231229:G113V;ENSP00000342197:G113V;ENSP00000424585:G113V	ENSP00000231229:G113V	G	+	2	0	BTNL8	180268480	0.002000	0.14202	0.007000	0.13788	0.011000	0.07611	0.475000	0.22164	0.485000	0.27652	0.436000	0.28706	GGG		0.478	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		12	209	1	0	0.000151284	0.00185496	0.00190386	12	209				
MUC16	94025	broad.mit.edu	37	19	9074800	9074800	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr19:9074800T>G	ENST00000397910.4	-	3	12849	c.12646A>C	c.(12646-12648)Agt>Cgt	p.S4216R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4218	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAGGTAAACTTGTGCCAGGT	0.498																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(12646-12648)Agt>Cgt		mucin 16, cell surface associated							78.0	74.0	75.0					19																	9074800		1942	4161	6103	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9074800T>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.12646A>C	19.37:g.9074800T>G	ENSP00000381008:p.Ser4216Arg						p.S4216R	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	12849	-			4218			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.12646A>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	3.529	-0.096096	0.07010	.	.	ENSG00000181143	ENST00000397910	T	0.29397	1.57	1.31	1.31	0.21738	.	.	.	.	.	T	0.40909	0.1136	L	0.46157	1.445	.	.	.	D	0.69078	0.997	D	0.71184	0.972	T	0.49303	-0.8954	8	0.87932	D	0	.	4.7679	0.13141	0.0:0.0:0.0:1.0	.	4216	B5ME49	.	R	4216	ENSP00000381008:S4216R	ENSP00000381008:S4216R	S	-	1	0	MUC16	8935800	0.002000	0.14202	0.005000	0.12908	0.027000	0.11550	1.225000	0.32551	0.848000	0.35191	0.260000	0.18958	AGT		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		11	62	0	0	0	0.000673444	0	11	62				
ETFDH	2110	broad.mit.edu	37	4	159620266	159620266	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr4:159620266A>G	ENST00000511912.1	+	9	1432	c.1100A>G	c.(1099-1101)aAt>aGt	p.N367S	ETFDH_ENST00000307738.5_Missense_Mutation_p.N320S|U3_ENST00000607547.1_RNA	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	367					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		AGAGCTCTCAATGAAGGTGGC	0.378																																						ENST00000511912.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28						c.(1099-1101)aAt>aGt		electron-transferring-flavoprotein dehydrogenase							116.0	110.0	112.0					4																	159620266		2203	4300	6503	SO:0001583	missense	2110				fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding	g.chr4:159620266A>G	S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.1100A>G	4.37:g.159620266A>G	ENSP00000426638:p.Asn367Ser					ETFDH_ENST00000307738.5_Missense_Mutation_p.N320S	p.N367S	NM_004453.2	NP_004444.2	Q16134	ETFD_HUMAN		COAD - Colon adenocarcinoma(41;0.0172)	9	1432	+	all_hematologic(180;0.24)	Renal(120;0.0458)	367					B4E3R9|J3KND9|Q7Z347	Missense_Mutation	SNP	ENST00000511912.1	37	c.1100A>G	CCDS3800.1	.	.	.	.	.	.	.	.	.	.	A	12.64	1.999520	0.35320	.	.	ENSG00000171503	ENST00000511912;ENST00000307738	D;D	0.87491	-2.26;-2.26	5.97	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.82130	0.4970	L	0.52206	1.635	0.58432	D	0.999999	P;P;P	0.44521	0.691;0.691;0.837	B;B;B	0.40199	0.137;0.137;0.322	T	0.77765	-0.2465	10	0.17369	T	0.5	-13.3184	12.0902	0.53722	0.9329:0.0:0.0671:0.0	.	320;306;367	B4E3R9;B4DEQ0;Q16134	.;.;ETFD_HUMAN	S	367;320	ENSP00000426638:N367S;ENSP00000303552:N320S	ENSP00000303552:N320S	N	+	2	0	ETFDH	159839716	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.297000	0.96120	1.080000	0.41073	0.477000	0.44152	AAT		0.378	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2			16	14	0	0	0	0.000566183	0	16	14				
RPL36	25873	broad.mit.edu	37	19	5691333	5691333	+	Missense_Mutation	SNP	C	C	G	rs371348781		TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr19:5691333C>G	ENST00000577222.1	+	5	641	c.97C>G	c.(97-99)Ctg>Gtg	p.L33V	RPL36_ENST00000579649.1_Missense_Mutation_p.L33V|RPL36_ENST00000579446.1_Missense_Mutation_p.L33V|RPL36_ENST00000347512.3_Missense_Mutation_p.L33V|RPL36_ENST00000394580.2_Missense_Mutation_p.L33V			Q9Y3U8	RL36_HUMAN	ribosomal protein L36	33					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|upper_aerodigestive_tract(1)	2						CCCCTAGCGTCTGACCAAACA	0.602											OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000577222.1																			0				breast(1)|upper_aerodigestive_tract(1)	2						c.(97-99)Ctg>Gtg		ribosomal protein L36		C	VAL/LEU,VAL/LEU	0,4406		0,0,2203	72.0	73.0	73.0		97,97	1.4	1.0	19		73	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RPL36	NM_015414.3,NM_033643.2	32,32	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	benign,benign	33/106,33/106	5691333	1,13005	2203	4300	6503	SO:0001583	missense	25873				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|structural constituent of ribosome	g.chr19:5691333C>G		CCDS12147.1	19p13.2	2011-04-06				ENSG00000130255		"""L ribosomal proteins"""	13631	protein-coding gene	gene with protein product							Standard	NM_033643		Approved	DKFZp566B023, L36	uc002mcv.3	Q9Y3U8		ENST00000577222.1:c.97C>G	19.37:g.5691333C>G	ENSP00000464342:p.Leu33Val		OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	628	RPL36_ENST00000394580.2_Missense_Mutation_p.L33V|RPL36_ENST00000347512.3_Missense_Mutation_p.L33V|RPL36_ENST00000579649.1_Missense_Mutation_p.L33V|RPL36_ENST00000579446.1_Missense_Mutation_p.L33V	p.L33V			Q9Y3U8	RL36_HUMAN			5	641	+			33					B2R4Y1|D6W634|Q6FIG1|Q9UQF6	Missense_Mutation	SNP	ENST00000577222.1	37	c.97C>G	CCDS12147.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.339715	0.24339	0.0	1.16E-4	ENSG00000130255	ENST00000347512;ENST00000394580	T;T	0.44083	0.93;0.93	4.07	1.44	0.22558	.	0.000000	0.64402	U	0.000006	T	0.37652	0.1011	L	0.56340	1.77	0.58432	D	0.999993	B	0.15473	0.013	B	0.29862	0.108	T	0.27673	-1.0067	10	0.46703	T	0.11	.	8.792	0.34857	0.0:0.7594:0.0:0.2406	.	33	Q9Y3U8	RL36_HUMAN	V	33	ENSP00000252543:L33V;ENSP00000378081:L33V	ENSP00000252543:L33V	L	+	1	2	RPL36	5642333	1.000000	0.71417	0.998000	0.56505	0.007000	0.05969	2.464000	0.45067	0.703000	0.31848	-0.373000	0.07131	CTG		0.602	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442561.1	NM_015414		35	68	0	0	0	0.000953801	0	35	68				
FREM2	341640	broad.mit.edu	37	13	39262438	39262438	+	Silent	SNP	G	G	A			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr13:39262438G>A	ENST00000280481.7	+	1	1173	c.957G>A	c.(955-957)aaG>aaA	p.K319K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	319					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTGCACCCAAGCCCAGTTTCG	0.607																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(955-957)aaG>aaA		FRAS1 related extracellular matrix protein 2							106.0	82.0	90.0					13																	39262438		2203	4300	6503	SO:0001819	synonymous_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39262438G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.957G>A	13.37:g.39262438G>A							p.K319K	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	1173	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	319					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.957G>A	CCDS31960.1																																																																																				0.607	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		20	22	0	0	0	0.00152264	0	20	22				
COL5A3	50509	broad.mit.edu	37	19	10077031	10077031	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr19:10077031C>T	ENST00000264828.3	-	64	4826	c.4741G>A	c.(4741-4743)Gga>Aga	p.G1581R		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1581	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GTCTCTCCTCCCGCCGTGAAG	0.602																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(4741-4743)Gga>Aga		collagen, type V, alpha 3							59.0	48.0	52.0					19																	10077031		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10077031C>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.4741G>A	19.37:g.10077031C>T	ENSP00000264828:p.Gly1581Arg						p.G1581R	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		64	4826	-			1581			Fibrillar collagen NC1.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.4741G>A	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.559047	0.65538	.	.	ENSG00000080573	ENST00000264828	D	0.91011	-2.77	4.2	4.2	0.49525	Fibrillar collagen, C-terminal (3);	0.279315	0.29515	N	0.011928	D	0.94644	0.8273	M	0.88640	2.97	0.38670	D	0.952299	D	0.69078	0.997	D	0.69142	0.962	D	0.94061	0.7326	10	0.08837	T	0.75	.	14.1431	0.65331	0.0:1.0:0.0:0.0	.	1581	P25940	CO5A3_HUMAN	R	1581	ENSP00000264828:G1581R	ENSP00000264828:G1581R	G	-	1	0	COL5A3	9938031	0.230000	0.23740	0.959000	0.39883	0.987000	0.75469	2.974000	0.49272	2.181000	0.69327	0.555000	0.69702	GGA		0.602	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		19	26	0	0	0	0.00121646	0	19	26				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			440993							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	21	0	0	0	0.00024832	0	4	21				
LIPG	9388	broad.mit.edu	37	18	47101893	47101893	+	Silent	SNP	C	C	T			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr18:47101893C>T	ENST00000261292.4	+	5	1004	c.726C>T	c.(724-726)taC>taT	p.Y242Y	LIPG_ENST00000580036.1_Silent_p.Y242Y|LIPG_ENST00000427224.2_Intron|LIPG_ENST00000577628.1_Silent_p.Y278Y	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	242					cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						TTGACATCTACCCCAATGGGG	0.507																																					Pancreas(126;280 1778 12814 26243 34948)	ENST00000261292.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						c.(724-726)taC>taT		lipase, endothelial							97.0	77.0	84.0					18																	47101893		2203	4300	6503	SO:0001819	synonymous_variant	9388				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	g.chr18:47101893C>T	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.726C>T	18.37:g.47101893C>T						LIPG_ENST00000580036.1_Silent_p.Y242Y|LIPG_ENST00000577628.1_Silent_p.Y278Y|LIPG_ENST00000427224.2_Intron	p.Y242Y	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN			5	1004	+			242					B0LPG6|Q6P9C8|Q6UW82	Silent	SNP	ENST00000261292.4	37	c.726C>T	CCDS11938.1																																																																																				0.507	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033		8	85	0	0	0	0.000274275	0	8	85				
ZNF449	203523	broad.mit.edu	37	X	134483238	134483238	+	Splice_Site	SNP	T	T	G			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chrX:134483238T>G	ENST00000339249.4	+	3	698	c.558T>G	c.(556-558)ccT>ccG	p.P186P		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	186					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTGGACCCTGGTAAGGCAA	0.512																																						ENST00000339249.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23						c.e3+1		zinc finger protein 449							126.0	112.0	117.0					X																	134483238		2203	4300	6503	SO:0001630	splice_region_variant	203523				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134483238T>G	AY280801	CCDS14649.1	Xq26.3	2013-01-09			ENSG00000173275	ENSG00000173275		"""-"", ""Zinc fingers, C2H2-type"""	21039	protein-coding gene	gene with protein product		300627					Standard	NM_152695		Approved	ZSCAN19, FLJ23614	uc004eys.3	Q6P9G9	OTTHUMG00000022478	ENST00000339249.4:c.559+1T>G	X.37:g.134483238T>G							p.P186_splice	NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN			3	698	+	Acute lymphoblastic leukemia(192;6.56e-05)		186					Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	Splice_Site	SNP	ENST00000339249.4	37	c.559_splice	CCDS14649.1																																																																																				0.512	ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058411.1	NM_152695	Silent	16	39	0	0	0	0.000308642	0	16	39				
OGDH	4967	broad.mit.edu	37	7	44747333	44747333	+	Silent	SNP	C	C	G	rs1135689		TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr7:44747333C>G	ENST00000222673.5	+	22	2991	c.2949C>G	c.(2947-2949)gtC>gtG	p.V983V	OGDH_ENST00000444676.1_Silent_p.V998V|OGDH_ENST00000449767.1_Silent_p.V979V|OGDH_ENST00000543843.1_Silent_p.V934V|OGDH_ENST00000439616.2_Silent_p.V833V|OGDH_ENST00000447398.1_Silent_p.V994V	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	983					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	CCAAGCCCGTCTGGTAAGGCT	0.612																																						ENST00000222673.5																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(2947-2949)gtC>gtG		oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	NADH(DB00157)						71.0	62.0	65.0					7																	44747333		2203	4300	6503	SO:0001819	synonymous_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44747333C>G	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2949C>G	7.37:g.44747333C>G						OGDH_ENST00000543843.1_Silent_p.V934V|OGDH_ENST00000449767.1_Silent_p.V979V|OGDH_ENST00000447398.1_Silent_p.V994V|OGDH_ENST00000444676.1_Silent_p.V998V|OGDH_ENST00000439616.2_Silent_p.V833V	p.V983V	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN			22	2991	+			983					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	c.2949C>G	CCDS34627.1																																																																																				0.612	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			29	52	0	0	0	0.00106085	0	29	52				
NRAP	4892	broad.mit.edu	37	10	115391662	115391662	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr10:115391662G>A	ENST00000359988.3	-	17	1938	c.1694C>T	c.(1693-1695)gCc>gTc	p.A565V	NRAP_ENST00000369360.3_Missense_Mutation_p.A530V|NRAP_ENST00000369358.4_Missense_Mutation_p.A565V|NRAP_ENST00000360478.3_Missense_Mutation_p.A530V	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CAGAGACATGGCATCCAGCTT	0.448																																						ENST00000369358.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(1693-1695)gCc>gTc		nebulin-related anchoring protein							162.0	148.0	153.0					10																	115391662		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115391662G>A		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.1694C>T	10.37:g.115391662G>A	ENSP00000353078:p.Ala565Val					NRAP_ENST00000360478.3_Missense_Mutation_p.A530V|NRAP_ENST00000359988.3_Missense_Mutation_p.A565V|NRAP_ENST00000369360.3_Missense_Mutation_p.A530V	p.A565V			Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	17	1938	-		Colorectal(252;0.0233)|Breast(234;0.188)	565						Missense_Mutation	SNP	ENST00000359988.3	37	c.1694C>T	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751227	0.69533	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350;ENST00000369343	T;T;T;T	0.49139	2.4;2.38;0.79;0.79	5.52	5.52	0.82312	.	0.241003	0.42053	D	0.000779	T	0.67477	0.2897	M	0.81112	2.525	0.32015	N	0.60152	P;P;P	0.45768	0.866;0.837;0.866	P;P;P	0.54431	0.507;0.637;0.752	T	0.74740	-0.3563	10	0.66056	D	0.02	.	19.5136	0.95154	0.0:0.0:1.0:0.0	.	565;530;565	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	V	565;530;565;530;294;294	ENSP00000358365:A565V;ENSP00000358367:A530V;ENSP00000353078:A565V;ENSP00000353666:A530V	ENSP00000353078:A565V	A	-	2	0	NRAP	115381652	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.824000	0.55723	2.609000	0.88269	0.580000	0.79431	GCC		0.448	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		53	74	0	0	0	0.000781405	0	53	74				
ZSCAN5A	79149	broad.mit.edu	37	19	56732960	56732960	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr19:56732960T>G	ENST00000587340.1	-	7	2170	c.1475A>C	c.(1474-1476)gAa>gCa	p.E492A	ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.E375A|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.E491A|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.E492A|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.E346A			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	492					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGAAGTAGCTTCTGGATGTGT	0.433																																						ENST00000587340.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1474-1476)gAa>gCa		zinc finger and SCAN domain containing 5A							105.0	89.0	95.0					19																	56732960		2203	4300	6503	SO:0001583	missense	79149				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56732960T>G	AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"""-"", ""Zinc fingers, C2H2-type"""	23710	protein-coding gene	gene with protein product			"""zinc finger protein 495"", ""zinc finger and SCAN domain containing 5"""	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.1475A>C	19.37:g.56732960T>G	ENSP00000467631:p.Glu492Ala					ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.E492A|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.E346A|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.E375A|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.E491A	p.E492A			Q9BUG6	ZSA5A_HUMAN			7	2170	-			492					B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	ENST00000587340.1	37	c.1475A>C	CCDS12941.1	.	.	.	.	.	.	.	.	.	.	T	7.352	0.623131	0.14193	.	.	ENSG00000131848	ENST00000391713;ENST00000254165	T;T	0.07908	3.17;3.15	1.53	1.53	0.23141	Zinc finger, C2H2 (1);	.	.	.	.	T	0.04407	0.0121	L	0.27053	0.805	0.09310	N	1	P;P	0.43094	0.799;0.799	B;B	0.33339	0.162;0.162	T	0.37009	-0.9724	9	0.49607	T	0.09	.	3.2857	0.06931	0.0:0.2247:0.0:0.7753	.	375;492	B4DX98;Q9BUG6	.;ZSA5A_HUMAN	A	492;375	ENSP00000375593:E492A;ENSP00000254165:E375A	ENSP00000254165:E375A	E	-	2	0	ZSCAN5A	61424772	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.301000	0.08232	0.969000	0.38237	0.402000	0.26972	GAA		0.433	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1	NM_024303		30	50	0	0	0	0.0024448	0	30	50				
IGF2BP2	10644	broad.mit.edu	37	3	185363333	185363333	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr3:185363333G>A	ENST00000382199.2	-	16	1881	c.1786C>T	c.(1786-1788)Cag>Tag	p.Q596*	IGF2BP2_ENST00000346192.3_Nonsense_Mutation_p.Q553*|IGF2BP2_ENST00000457616.2_Nonsense_Mutation_p.Q602*|IGF2BP2_ENST00000421047.2_Nonsense_Mutation_p.Q539*	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	596					anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TTGCTGCGCTGTGAGGCGACT	0.547																																						ENST00000382199.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20						c.(1786-1788)Cag>Tag		insulin-like growth factor 2 mRNA binding protein 2							65.0	57.0	60.0					3																	185363333		2203	4300	6503	SO:0001587	stop_gained	10644				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr3:185363333G>A	BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"""RNA binding motif (RRM) containing"""	28867	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 2"""	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.1786C>T	3.37:g.185363333G>A	ENSP00000371634:p.Gln596*					IGF2BP2_ENST00000346192.3_Nonsense_Mutation_p.Q553*|IGF2BP2_ENST00000457616.2_Nonsense_Mutation_p.Q602*|IGF2BP2_ENST00000421047.2_Nonsense_Mutation_p.Q539*	p.Q596*	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)		16	1881	-	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		596					A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Nonsense_Mutation	SNP	ENST00000382199.2	37	c.1786C>T	CCDS3273.2	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426418	0.83667	.	.	ENSG00000073792	ENST00000382199;ENST00000421047;ENST00000457616;ENST00000346192	.	.	.	4.53	4.53	0.55603	.	0.374325	0.30732	N	0.008992	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-4.9841	14.6138	0.68534	0.0:0.0:1.0:0.0	.	.	.	.	X	596;539;602;553	.	ENSP00000320204:Q553X	Q	-	1	0	IGF2BP2	186846027	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	9.181000	0.94874	2.245000	0.73994	0.447000	0.29281	CAG		0.547	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157087.2	NM_006548		100	46	0	0	0	0.000781405	0	100	46				
KIF3A	11127	broad.mit.edu	37	5	132037805	132037805	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr5:132037805C>G	ENST00000378746.4	-	13	1995	c.1777G>C	c.(1777-1779)Gat>Cat	p.D593H	KIF3A_ENST00000403231.1_Missense_Mutation_p.D620H|KIF3A_ENST00000487055.1_5'UTR|AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000378735.1_Missense_Mutation_p.D596H	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	593					anterior/posterior pattern specification (GO:0009952)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|organelle organization (GO:0006996)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of receptor-mediated endocytosis (GO:0048260)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|spectrin binding (GO:0030507)			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATAAAGTTATCAATAATAAGC	0.413																																						ENST00000378746.4																			0				endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25						c.(1777-1779)Gat>Cat		kinesin family member 3A							76.0	79.0	78.0					5																	132037805		2203	4300	6503	SO:0001583	missense	11127				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding	g.chr5:132037805C>G	AF041853	CCDS34235.1, CCDS75295.1, CCDS75296.1	5q31	2012-08-01			ENSG00000131437	ENSG00000131437		"""Kinesins"""	6319	protein-coding gene	gene with protein product	"""kinesin family protein 3A"""	604683				1054846	Standard	XM_005271868		Approved	FLA10, KLP-20	uc003kxo.3	Q9Y496	OTTHUMG00000059725	ENST00000378746.4:c.1777G>C	5.37:g.132037805C>G	ENSP00000368020:p.Asp593His					KIF3A_ENST00000403231.1_Missense_Mutation_p.D620H|KIF3A_ENST00000487055.1_5'UTR|KIF3A_ENST00000378735.1_Missense_Mutation_p.D596H|AC004237.1_ENST00000431165.1_RNA	p.D593H	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		13	1995	-		all_cancers(142;0.0751)|Breast(839;0.198)	593					A8MSW9|Q59EN1|Q86XE9|Q9Y6V4	Missense_Mutation	SNP	ENST00000378746.4	37	c.1777G>C	CCDS34235.1	.	.	.	.	.	.	.	.	.	.	C	33	5.236524	0.95240	.	.	ENSG00000131437	ENST00000378746;ENST00000378735;ENST00000541316;ENST00000403231	T;T;T	0.09723	2.95;2.95;2.95	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.36026	0.0952	M	0.70595	2.14	0.80722	D	1	D;D;P;D	0.76494	0.999;0.999;0.838;0.999	D;D;P;D	0.80764	0.994;0.994;0.541;0.99	T	0.01130	-1.1442	10	0.62326	D	0.03	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	620;620;593;619	E9PES4;B4DHG8;Q9Y496;Q2UVF2	.;.;KIF3A_HUMAN;.	H	593;596;620;620	ENSP00000368020:D593H;ENSP00000368009:D596H;ENSP00000385808:D620H	ENSP00000368009:D596H	D	-	1	0	KIF3A	132065704	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.824000	0.97209	0.655000	0.94253	GAT		0.413	KIF3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132788.3	NM_007054		26	22	0	0	0	0.000878237	0	26	22				
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	byFrequency	TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527													.|||	3140	0.626997	0.9395	0.5	5008	,	,		11330	0.7847		0.4702	False		,,,				2504	0.2935					ENST00000564451.1																			3	Substitution - Missense(3)	p.I221T(3)	kidney(2)|prostate(1)																																																197331							g.chr16:90161926T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161926T>C						TUBB8P7_ENST00000567960.1_RNA								0	1279	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.527	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	40	0	0	0	0.00116845	0	4	40				
ADCY6	112	broad.mit.edu	37	12	49176996	49176996	+	Silent	SNP	G	G	A			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr12:49176996G>A	ENST00000307885.4	-	1	916	c.222C>T	c.(220-222)ggC>ggT	p.G74G	ADCY6_ENST00000357869.3_Silent_p.G74G|ADCY6_ENST00000550422.1_Silent_p.G74G	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	74					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TGCCTGGGCCGCCCCTCCGGA	0.721																																						ENST00000307885.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(220-222)ggC>ggT		adenylate cyclase 6							21.0	25.0	24.0					12																	49176996		2185	4258	6443	SO:0001819	synonymous_variant	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49176996G>A		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.222C>T	12.37:g.49176996G>A						ADCY6_ENST00000550422.1_Silent_p.G74G|ADCY6_ENST00000357869.3_Silent_p.G74G	p.G74G	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN			1	916	-			74					Q9NR75|Q9UDB0	Silent	SNP	ENST00000307885.4	37	c.222C>T	CCDS8767.1																																																																																				0.721	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		22	35	0	0	0	0.00188189	0	22	35				
SERBP1	26135	broad.mit.edu	37	1	67895933	67895933	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr1:67895933G>C	ENST00000370995.2	-	1	136	c.51C>G	c.(49-51)ttC>ttG	p.F17L	SERBP1_ENST00000370990.5_Missense_Mutation_p.F17L|SERBP1_ENST00000370994.4_Missense_Mutation_p.F17L|SERBP1_ENST00000361219.6_Missense_Mutation_p.F17L			Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	17					regulation of apoptotic process (GO:0042981)|regulation of mRNA stability (GO:0043488)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						ATAACTGGTCGAATCGGTTGG	0.642																																						ENST00000370994.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						c.(49-51)ttC>ttG		SERPINE1 mRNA binding protein 1							58.0	64.0	62.0					1																	67895933		2192	4284	6476	SO:0001583	missense	26135				regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding	g.chr1:67895933G>C	AF151813	CCDS639.1, CCDS30746.1, CCDS30747.1, CCDS30748.1	1p31	2009-12-17			ENSG00000142864	ENSG00000142864			17860	protein-coding gene	gene with protein product		607378				11001948, 10810093, 18440126, 17698176	Standard	NM_001018067		Approved	PAI-RBP1, DKFZP564M2423, CGI-55, HABP4L, PAIRBP1, CHD3IP	uc001ddv.3	Q8NC51	OTTHUMG00000009372	ENST00000370995.2:c.51C>G	1.37:g.67895933G>C	ENSP00000360034:p.Phe17Leu					SERBP1_ENST00000370990.5_Missense_Mutation_p.F17L|SERBP1_ENST00000361219.6_Missense_Mutation_p.F17L|SERBP1_ENST00000370995.2_Missense_Mutation_p.F17L	p.F17L	NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3	NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3	Q8NC51	PAIRB_HUMAN			1	165	-			17					Q5VU19|Q5VU20|Q5VU22|Q8WUH0|Q96SE2|Q9BTY3|Q9BUM4|Q9Y367|Q9Y4S3	Missense_Mutation	SNP	ENST00000370995.2	37	c.51C>G	CCDS30746.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205589	0.79127	.	.	ENSG00000142864	ENST00000370994;ENST00000370995;ENST00000361219;ENST00000370990	.	.	.	4.04	4.04	0.47022	.	0.000000	0.85682	D	0.000000	T	0.72574	0.3477	M	0.82716	2.605	0.58432	D	0.999999	B;D;D;D	0.67145	0.449;0.995;0.996;0.996	B;D;D;D	0.68765	0.117;0.951;0.928;0.96	T	0.76157	-0.3062	9	0.87932	D	0	-3.7204	10.187	0.43004	0.098:0.0:0.902:0.0	.	80;80;17;17	D3DQ69;D3DQ70;Q8NC51-3;Q8NC51	.;.;.;PAIRB_HUMAN	L	17	.	ENSP00000354591:F17L	F	-	3	2	SERBP1	67668521	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.711000	0.61881	2.540000	0.85666	0.563000	0.77884	TTC		0.642	SERBP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025984.2	NM_001018067		51	42	0	0	0	0.000781405	0	51	42				
LILRB5	10990	broad.mit.edu	37	19	54754843	54754843	+	Intron	SNP	A	A	G			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr19:54754843A>G	ENST00000316219.5	-	13	1734				LILRB5_ENST00000450632.1_Missense_Mutation_p.S598P|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron|CTD-2337J16.1_ENST00000595133.1_lincRNA	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607																																						ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1792-1794)Tcc>Ccc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							43.0	42.0	42.0					19																	54754843		2191	4270	6461	SO:0001627	intron_variant	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54754843A>G	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1627-47T>C	19.37:g.54754843A>G						LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron	p.S598P			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	13	1869	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		423					Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.1792T>C	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	A	10.02	1.237390	0.22711	.	.	ENSG00000105609	ENST00000450632	T	0.00497	6.98	1.74	-0.656	0.11436	.	.	.	.	.	T	0.00328	0.0010	.	.	.	0.09310	N	1	B	0.24576	0.106	B	0.17433	0.018	T	0.45702	-0.9243	8	0.87932	D	0	.	1.6956	0.02861	0.475:0.0:0.2022:0.3228	.	598	C9JMK7	.	P	598	ENSP00000414225:S598P	ENSP00000414225:S598P	S	-	1	0	LILRB5	59446655	0.000000	0.05858	0.043000	0.18650	0.608000	0.37181	-0.873000	0.04214	-0.256000	0.09473	0.332000	0.21555	TCC		0.607	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			4	46	0	0	0	0.00024832	0	4	46				
FAT1	2195	broad.mit.edu	37	4	187517826	187517826	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr4:187517826C>A	ENST00000441802.2	-	25	13077	c.12868G>T	c.(12868-12870)Gag>Tag	p.E4290*	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4290					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGCACAGACTCGGGGTTAAAA	0.557										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(12868-12870)Gag>Tag		FAT atypical cadherin 1							56.0	61.0	59.0					4																	187517826		2093	4225	6318	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187517826C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.12868G>T	4.37:g.187517826C>A	ENSP00000406229:p.Glu4290*	HNSCC(5;0.00058)					p.E4290*	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			25	13077	-			4290						Nonsense_Mutation	SNP	ENST00000441802.2	37	c.12868G>T	CCDS47177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.9|26.9	4.782859|4.782859	0.90282|0.90282	.|.	.|.	ENSG00000083857|ENSG00000083857	ENST00000441802;ENST00000260147|ENST00000512772	.|.	.|.	.|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.046768|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76140	.|0.3946	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74222	.|-0.3735	.|3	0.39692|.	T|.	0.17|.	.|.	19.3116|19.3116	0.94189|0.94189	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	4290;4292|57	.|.	ENSP00000260147:E4292X|.	E|R	-|-	1|2	0|0	FAT1|FAT1	187754820|187754820	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.659000|0.659000	0.38960|0.38960	7.651000|7.651000	0.83577|0.83577	2.808000|2.808000	0.96608|0.96608	0.650000|0.650000	0.86243|0.86243	GAG|CGA		0.557	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		22	12	1	0	8.10497e-08	0.00152264	1.06933e-06	22	12				
MIR518D	574489	broad.mit.edu	37	19	54238204	54238204	+	RNA	SNP	G	G	A	rs377181352		TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr19:54238204G>A	ENST00000385014.1	+	0	74				MIR516B1_ENST00000385211.1_RNA|RNU6-980P_ENST00000516925.1_RNA	NR_030211.1				microRNA 518d																		CCTTTGGAGCGTTACGGTTTG	0.453																																						ENST00000385014.1																			0																				88.0	84.0	85.0					19																	54238204		1568	3582	5150			574489							g.chr19:54238204G>A			19q13.42	2011-09-12		2008-12-18	ENSG00000207747	ENSG00000207747		"""ncRNAs / Micro RNAs"""	32121	non-coding RNA	RNA, micro				MIRN518D			Standard	NR_030211		Approved	hsa-mir-518d	uc021vao.1				19.37:g.54238204G>A								NR_030211.1						0	74	+									RNA	SNP	ENST00000385014.1	37																																																																																						0.453	MIR518D-201	KNOWN	basic	miRNA	miRNA		NR_030211		5	55	0	0	0	0.000602214	0	5	55				
USP6NL	9712	broad.mit.edu	37	10	11505354	11505354	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr10:11505354C>T	ENST00000609104.1	-	15	1967	c.1573G>A	c.(1573-1575)Gtg>Atg	p.V525M	USP6NL_ENST00000379237.2_Missense_Mutation_p.V548M|USP6NL_ENST00000277575.5_Missense_Mutation_p.V542M	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	525					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						GACACCCGCACCTCGGCAGGA	0.622																																						ENST00000379237.1																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(1573-1575)Gtg>Atg		USP6 N-terminal like							98.0	102.0	100.0					10																	11505354		2095	4206	6301	SO:0001583	missense	9712					intracellular	Rab GTPase activator activity	g.chr10:11505354C>T	BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"""related to the N terminus of tre"""	605405	"""USP6NL intronic transcript 1 (non-protein coding)"""	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.1573G>A	10.37:g.11505354C>T	ENSP00000476462:p.Val525Met					USP6NL_ENST00000277575.5_Missense_Mutation_p.V542M	p.V525M	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN			15	1967	-			525					A8KA79|Q15400|Q5VV10|Q7L0K9	Missense_Mutation	SNP	ENST00000609104.1	37	c.1573G>A	CCDS53492.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.826783	0.50739	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.03951	3.75;3.76	5.91	-9.2	0.00682	.	1.482430	0.03863	N	0.274368	T	0.02533	0.0077	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.006;0.005	B;B	0.08055	0.001;0.003	T	0.41980	-0.9478	10	0.38643	T	0.18	.	9.7229	0.40313	0.0:0.1604:0.3821:0.4575	.	525;542	Q92738;Q92738-2	US6NL_HUMAN;.	M	525;542;525	ENSP00000277575:V542M;ENSP00000368539:V525M	ENSP00000277575:V542M	V	-	1	0	USP6NL	11545360	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-2.726000	0.00808	-1.724000	0.01373	0.462000	0.41574	GTG		0.622	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	NM_014688		50	131	0	0	0	0.000781405	0	50	131				
EGFLAM	133584	broad.mit.edu	37	5	38464067	38464067	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr5:38464067C>G	ENST00000354891.3	+	23	3379	c.3033C>G	c.(3031-3033)atC>atG	p.I1011M	EGFLAM_ENST00000397202.2_Missense_Mutation_p.I369M|EGFLAM_ENST00000514476.1_Missense_Mutation_p.I146M|CTD-2263F21.1_ENST00000510137.1_RNA|EGFLAM_ENST00000506135.1_Missense_Mutation_p.I146M|EGFLAM_ENST00000336740.6_Missense_Mutation_p.I769M|EGFLAM_ENST00000322350.5_Missense_Mutation_p.I1003M|EGFLAM_ENST00000397210.3_Missense_Mutation_p.I146M|CTD-2263F21.1_ENST00000510469.1_RNA	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	1011	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GGAAAAACATCAACACTTGTG	0.527																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(3007-3009)atC>atG		EGF-like, fibronectin type III and laminin G domains							123.0	96.0	105.0					5																	38464067		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38464067C>G	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.3033C>G	5.37:g.38464067C>G	ENSP00000346964:p.Ile1011Met					EGFLAM_ENST00000397210.3_Missense_Mutation_p.I146M|EGFLAM_ENST00000506135.1_Missense_Mutation_p.I146M|EGFLAM_ENST00000397202.2_Missense_Mutation_p.I369M|EGFLAM_ENST00000336740.6_Missense_Mutation_p.I769M|CTD-2263F21.1_ENST00000510469.1_RNA|EGFLAM_ENST00000354891.3_Missense_Mutation_p.I1011M|EGFLAM_ENST00000514476.1_Missense_Mutation_p.I146M	p.I1003M	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			22	3355	+	all_lung(31;0.000385)		1011			Laminin G-like 3.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.3009C>G	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.594476	0.66219	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580;ENST00000397210;ENST00000506135;ENST00000514476	T;T;T;D;T;T;T	0.84516	0.71;0.51;-1.43;-1.86;-0.22;-0.22;-0.22	5.93	5.93	0.95920	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);	0.000000	0.85682	D	0.000000	D	0.91153	0.7214	M	0.77103	2.36	0.54753	D	0.999987	D;D;D;D	0.89917	0.999;1.0;1.0;0.997	D;D;D;D	0.91635	0.952;0.999;0.999;0.984	D	0.91278	0.5049	10	0.87932	D	0	-3.124	9.414	0.38510	0.144:0.7849:0.0:0.071	.	369;769;1011;1003	Q63HQ2-3;Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;.;EGFLA_HUMAN;.	M	1011;1003;769;369;769;146;146;146	ENSP00000346964:I1011M;ENSP00000313084:I1003M;ENSP00000337607:I769M;ENSP00000380385:I369M;ENSP00000380393:I146M;ENSP00000425579:I146M;ENSP00000423228:I146M	ENSP00000313084:I1003M	I	+	3	3	EGFLAM	38499824	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.099000	0.41767	2.826000	0.97356	0.655000	0.94253	ATC		0.527	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		7	94	0	0	0	0.00198382	0	7	94				
PHACTR1	221692	broad.mit.edu	37	6	13230292	13230292	+	Silent	SNP	A	A	C			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr6:13230292A>C	ENST00000379350.1	+	9	1387	c.1258A>C	c.(1258-1260)Agg>Cgg	p.R420R	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Silent_p.R420R|PHACTR1_ENST00000457702.2_Silent_p.R275R			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	420					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GAAGGTCTGCAGGAAGGACTC	0.547																																						ENST00000379350.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(1258-1260)Agg>Cgg		phosphatase and actin regulator 1							38.0	38.0	38.0					6																	13230292		1973	4161	6134	SO:0001819	synonymous_variant	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13230292A>C	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.1258A>C	6.37:g.13230292A>C						PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Silent_p.R420R|PHACTR1_ENST00000457702.2_Silent_p.R275R	p.R420R			Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		9	1387	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	420					A8K1V2|Q3MJ93|Q5JSJ2	Silent	SNP	ENST00000379350.1	37	c.1258A>C																																																																																					0.547	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		4	6	0	0	0	0.00024832	0	4	6				
PRSS22	64063	broad.mit.edu	37	16	2905603	2905603	+	Silent	SNP	G	G	T			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr16:2905603G>T	ENST00000161006.3	-	4	596	c.531C>A	c.(529-531)atC>atA	p.I177I	PRSS22_ENST00000571228.1_Intron|PRSS22_ENST00000574768.1_5'Flank|LA16c-325D7.1_ENST00000577140.1_RNA	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	177	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						CCCAGCCTGAGATCCAGCAGT	0.602																																						ENST00000161006.3																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						c.(529-531)atC>atA		protease, serine, 22							74.0	60.0	64.0					16																	2905603		2198	4300	6498	SO:0001819	synonymous_variant	64063				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:2905603G>T	AF321182	CCDS10481.1	16p13.3	2010-05-07			ENSG00000005001	ENSG00000005001		"""Serine peptidases / Serine peptidases"""	14368	protein-coding gene	gene with protein product	"""brain-specific serine protease 4"""	609343				11602603, 15701722	Standard	XM_005255473		Approved	hBSSP-4, BSSP-4, SP001LA	uc002cry.1	Q9GZN4	OTTHUMG00000128961	ENST00000161006.3:c.531C>A	16.37:g.2905603G>T						PRSS22_ENST00000571228.1_Intron	p.I177I	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN			4	596	-			177			Peptidase S1.		O43342|Q6UXE0	Silent	SNP	ENST00000161006.3	37	c.531C>A	CCDS10481.1																																																																																				0.602	PRSS22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250943.1	NM_022119		14	48	1	0	2.61681e-11	0.00244969	3.56759e-10	14	48				
IKZF2	22807	broad.mit.edu	37	2	213878609	213878609	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr2:213878609A>C	ENST00000434687.1	-	8	1071	c.762T>G	c.(760-762)aaT>aaG	p.N254K	IKZF2_ENST00000374327.4_Missense_Mutation_p.N109K|IKZF2_ENST00000451136.2_Missense_Mutation_p.N182K|IKZF2_ENST00000374319.4_Missense_Mutation_p.N228K|IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000413091.3_3'UTR|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000342002.2_Missense_Mutation_p.N260K|IKZF2_ENST00000457361.1_Missense_Mutation_p.N254K			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	254					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CCAGAGAAATATTGTTGTCCA	0.393																																						ENST00000457361.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(760-762)aaT>aaG		IKAROS family zinc finger 2 (Helios)							128.0	126.0	127.0					2																	213878609		2203	4300	6503	SO:0001583	missense	22807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:213878609A>C	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.762T>G	2.37:g.213878609A>C	ENSP00000412869:p.Asn254Lys					IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000342002.2_Missense_Mutation_p.N260K|IKZF2_ENST00000451136.2_Missense_Mutation_p.N182K|IKZF2_ENST00000434687.1_Missense_Mutation_p.N254K|IKZF2_ENST00000374327.4_Missense_Mutation_p.N109K|IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000374319.4_Missense_Mutation_p.N228K	p.N254K	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)	7	930	-		Esophageal squamous(248;0.0559)|Renal(323;0.218)	254					Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Missense_Mutation	SNP	ENST00000434687.1	37	c.762T>G	CCDS2395.1	.	.	.	.	.	.	.	.	.	.	A	11.59	1.683872	0.29872	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000374327	T;T;T;T;T;T	0.13538	3.31;3.28;3.31;3.34;3.28;2.58	5.4	5.4	0.78164	.	0.064529	0.64402	D	0.000006	T	0.14527	0.0351	L	0.44542	1.39	0.80722	D	1	P;B;B;B;B	0.42518	0.782;0.137;0.007;0.278;0.013	B;B;B;B;B	0.43536	0.423;0.085;0.023;0.057;0.025	T	0.03403	-1.1040	10	0.32370	T	0.25	-4.7058	10.1294	0.42669	0.9248:0.0:0.0752:0.0	.	182;109;228;254;32	C9JCG7;F5H8M1;Q9UKS7-2;Q9UKS7;Q96LD7	.;.;.;IKZF2_HUMAN;.	K	254;260;254;228;182;109	ENSP00000410447:N254K;ENSP00000342876:N260K;ENSP00000412869:N254K;ENSP00000363439:N228K;ENSP00000395203:N182K;ENSP00000363447:N109K	ENSP00000342876:N260K	N	-	3	2	IKZF2	213586854	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.738000	0.47401	2.171000	0.68590	0.459000	0.35465	AAT		0.393	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260		12	61	0	0	0	0.00136819	0	12	61				
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T	rs558255572		TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	62								p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333													.|||	1	0.000199681	0.0	0.0014	5008	,	,		30607	0.0		0.0	False		,,,				2504	0.0					ENST00000278882.3																			2	Substitution - Missense(2)	p.D62V(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(184-186)gAt>gTt																																						SO:0001583	missense	284802							g.chr20:29625941A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.185A>T	20.37:g.29625941A>T	ENSP00000278882:p.Asp62Val					FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V	p.D62V							5	565	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.185A>T		.	.	.	.	.	.	.	.	.	.	a	11.46	1.644922	0.29246	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.55930	0.49	1.68	1.68	0.24146	.	0.000000	0.85682	U	0.000000	T	0.67316	0.2880	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.68300	-0.5445	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	67	F5H5R5	.	V	62;67;62	ENSP00000408863:D67V	ENSP00000278882:D62V	D	+	2	0	FRG1B	28239602	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	7.682000	0.84083	1.028000	0.39785	0.155000	0.16302	GAT		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		8	60	0	0	0	0.000274275	0	8	60				
OPN1LW	5956	broad.mit.edu	37	X	153420103	153420103	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chrX:153420103C>A	ENST00000369951.4	+	4	693	c.633C>A	c.(631-633)agC>agA	p.S211R	OPN1LW_ENST00000463296.1_Intron	NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	211					phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCAGCGGCAGCTCGTACCCCG	0.607																																						ENST00000369951.4																			0				endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15						c.(631-633)agC>agA		opsin 1 (cone pigments), long-wave-sensitive							116.0	84.0	95.0					X																	153420103		2182	4236	6418	SO:0001583	missense	5956				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chrX:153420103C>A	Z68193	CCDS14742.1	Xq28	2013-01-08	2008-04-16		ENSG00000102076	ENSG00000102076		"""GPCR / Class A : Opsin receptors"""	9936	protein-coding gene	gene with protein product	"""cone dystrophy 5 (X-linked)"""	300822	"""color blindness, protan"", ""red cone photoreceptor pigment"""	CBBM, RCP, CBP			Standard	NM_020061		Approved	COD5	uc004fjz.4	P04000	OTTHUMG00000034295	ENST00000369951.4:c.633C>A	X.37:g.153420103C>A	ENSP00000358967:p.Ser211Arg					OPN1LW_ENST00000463296.1_Intron	p.S211R	NM_020061.4	NP_064445.1	P04000	OPSR_HUMAN			4	693	+	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		211						Missense_Mutation	SNP	ENST00000369951.4	37	c.633C>A	CCDS14742.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217290	0.58560	.	.	ENSG00000102076	ENST00000369951;ENST00000442922	T;T	0.42513	0.97;0.97	4.27	3.4	0.38934	GPCR, rhodopsin-like superfamily (1);	0.117372	0.85682	D	0.000000	T	0.54498	0.1862	M	0.77616	2.38	0.35812	D	0.823952	P	0.51933	0.949	P	0.55455	0.776	T	0.64597	-0.6370	10	0.59425	D	0.04	.	7.899	0.29723	0.0:0.7876:0.0:0.2124	.	211	P04000	OPSR_HUMAN	R	211;74	ENSP00000358967:S211R;ENSP00000402493:S74R	ENSP00000358967:S211R	S	+	3	2	OPN1LW	153073297	0.947000	0.32204	0.964000	0.40570	0.725000	0.41563	1.075000	0.30716	0.754000	0.32968	0.372000	0.22366	AGC		0.607	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082839.2	NM_020061		45	16	1	0	2.69953e-25	0.000781405	3.80727e-24	45	16				
COL5A3	50509	broad.mit.edu	37	19	10077032	10077032	+	Silent	SNP	C	C	T			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr19:10077032C>T	ENST00000264828.3	-	64	4825	c.4740G>A	c.(4738-4740)gcG>gcA	p.A1580A		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1580	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCTCTCCTCCCGCCGTGAAGT	0.602																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(4738-4740)gcG>gcA		collagen, type V, alpha 3							58.0	48.0	51.0					19																	10077032		2203	4300	6503	SO:0001819	synonymous_variant	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10077032C>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.4740G>A	19.37:g.10077032C>T							p.A1580A	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		64	4825	-			1580			Fibrillar collagen NC1.		Q9NZQ6	Silent	SNP	ENST00000264828.3	37	c.4740G>A	CCDS12222.1																																																																																				0.602	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		19	24	0	0	0	0.00188189	0	19	24				
TEX15	56154	broad.mit.edu	37	8	30705568	30705568	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr8:30705568A>T	ENST00000256246.2	-	1	1040	c.966T>A	c.(964-966)gaT>gaA	p.D322E	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	322					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATGCTAGATGATCTAGTTCAT	0.343																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(964-966)gaT>gaA		testis expressed 15							61.0	59.0	60.0					8																	30705568		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30705568A>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.966T>A	8.37:g.30705568A>T	ENSP00000256246:p.Asp322Glu						p.D322E	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	1040	-			322						Missense_Mutation	SNP	ENST00000256246.2	37	c.966T>A	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.180676	0.38511	.	.	ENSG00000133863	ENST00000256246	T	0.10763	2.84	5.33	-2.28	0.06826	.	0.909002	0.09313	N	0.819382	T	0.07773	0.0195	L	0.32530	0.975	0.09310	N	1	P	0.42908	0.793	B	0.40940	0.344	T	0.28459	-1.0043	10	0.87932	D	0	.	3.9716	0.09455	0.482:0.0:0.1497:0.3682	.	322	Q9BXT5	TEX15_HUMAN	E	322	ENSP00000256246:D322E	ENSP00000256246:D322E	D	-	3	2	TEX15	30825110	0.000000	0.05858	0.000000	0.03702	0.268000	0.26511	-0.041000	0.12084	-0.167000	0.10871	-0.503000	0.04515	GAT		0.343	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			13	29	0	0	0	0.000308642	0	13	29				
GABRA2	2555	broad.mit.edu	37	4	46388201	46388201	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr4:46388201A>G	ENST00000510861.1	-	3	250	c.77T>C	c.(76-78)gTg>gCg	p.V26A	GABRA2_ENST00000509716.1_5'UTR|GABRA2_ENST00000515082.1_Missense_Mutation_p.V26A|GABRA2_ENST00000507460.1_Missense_Mutation_p.V26A|GABRA2_ENST00000507069.1_Missense_Mutation_p.V26A|GABRA2_ENST00000381620.4_Missense_Mutation_p.V26A|GABRA2_ENST00000514090.1_Missense_Mutation_p.V26A|GABRA2_ENST00000540012.1_5'UTR|GABRA2_ENST00000356504.1_Missense_Mutation_p.V26A			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	26					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	GTTAGCCAGCACCAACCTAAA	0.343																																						ENST00000507460.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56						c.(76-78)gTg>gCg		gamma-aminobutyric acid (GABA) A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						71.0	65.0	67.0					4																	46388201		2202	4300	6502	SO:0001583	missense	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46388201A>G		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.77T>C	4.37:g.46388201A>G	ENSP00000421828:p.Val26Ala					GABRA2_ENST00000540012.1_5'UTR|GABRA2_ENST00000514090.1_Missense_Mutation_p.V26A|GABRA2_ENST00000507069.1_Missense_Mutation_p.V26A|GABRA2_ENST00000510861.1_Missense_Mutation_p.V26A|GABRA2_ENST00000381620.4_Missense_Mutation_p.V26A|GABRA2_ENST00000356504.1_Missense_Mutation_p.V26A|GABRA2_ENST00000515082.1_Missense_Mutation_p.V26A|GABRA2_ENST00000509716.1_5'UTR	p.V26A			P47869	GBRA2_HUMAN			3	409	-			26					A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	c.77T>C	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	A	14.29	2.490213	0.44249	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000507069;ENST00000515082;ENST00000503806;ENST00000506961;ENST00000507460	T;T;T;T;T;T;T;T	0.80738	-1.23;-1.23;-1.23;-1.23;-1.32;-1.41;-1.08;-1.08	5.01	5.01	0.66863	.	0.210714	0.39407	N	0.001361	T	0.80924	0.4717	N	0.24115	0.695	0.80722	D	1	D;B;B	0.67145	0.996;0.015;0.003	D;B;B	0.75484	0.986;0.006;0.003	T	0.76350	-0.2991	10	0.13853	T	0.58	.	14.0566	0.64774	1.0:0.0:0.0:0.0	.	26;26;26	D6RAA9;G5E9Z6;P47869	.;.;GBRA2_HUMAN	A	26	ENSP00000421828:V26A;ENSP00000421300:V26A;ENSP00000371033:V26A;ENSP00000348897:V26A;ENSP00000427603:V26A;ENSP00000423840:V26A;ENSP00000424362:V26A;ENSP00000424093:V26A	ENSP00000348897:V26A	V	-	2	0	GABRA2	46082958	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.616000	0.54174	2.100000	0.63781	0.477000	0.44152	GTG		0.343	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			9	18	0	0	0	0.000274275	0	9	18				
AKT2	208	broad.mit.edu	37	19	40740869	40740869	+	Intron	SNP	C	C	A			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr19:40740869C>A	ENST00000392038.2	-	13	1665				AKT2_ENST00000424901.1_Intron|AKT2_ENST00000311278.6_Intron|AKT2_ENST00000579047.1_Missense_Mutation_p.E421D	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2						activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			TTCGAGGGCCCTCCTTGAGAA	0.632			A		"""ovarian, pancreatic """																																	ENST00000579047.1				Dom	yes		19	19q13.1-q13.2	208	A	v-akt murine thymoma viral oncogene homolog 2			E			"""ovarian, pancreatic """		0				breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27						c.(1261-1263)gaG>gaT		v-akt murine thymoma viral oncogene homolog 2																																				SO:0001627	intron_variant	208				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr19:40740869C>A	M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.1366+82G>T	19.37:g.40740869C>A						AKT2_ENST00000424901.1_Intron|AKT2_ENST00000311278.6_Intron|AKT2_ENST00000392038.2_Intron	p.E421D			P31751	AKT2_HUMAN	Lung(22;0.000499)		12	1564	-			113			AGC-kinase C-terminal.		B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Missense_Mutation	SNP	ENST00000392038.2	37	c.1263G>T	CCDS12552.1																																																																																				0.632	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268029.1	NM_001626		7	17	1	0	2.7689e-08	0.00198382	3.71304e-07	7	17				
ALG3	10195	broad.mit.edu	37	3	183960340	183960340	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr3:183960340A>G	ENST00000397676.3	-	9	1309	c.1279T>C	c.(1279-1281)Ttc>Ctc	p.F427L	ALG3_ENST00000455059.1_Missense_Mutation_p.F387L|ALG3_ENST00000418734.2_Missense_Mutation_p.F371L|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000463495.1_5'Flank|MIR1224_ENST00000408193.1_RNA|ALG3_ENST00000445626.2_Missense_Mutation_p.F379L	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	427					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925)			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTCTTGGGGAAAGGCTGCGGG	0.597																																						ENST00000455059.1																			0				kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						c.(1159-1161)Ttc>Ctc		ALG3, alpha-1,3- mannosyltransferase							66.0	72.0	70.0					3																	183960340		2013	4184	6197	SO:0001583	missense	10195				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity	g.chr3:183960340A>G	BC002839	CCDS46967.1, CCDS46968.1	3q27.3	2013-02-26	2013-02-26		ENSG00000214160	ENSG00000214160	2.4.1.258	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	23056	protein-coding gene	gene with protein product	"""carbohydrate deficient glycoprotein syndrome type IV"", ""dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase"", ""dol-P-Man dependent alpha-1,3- mannosyltransferase"""	608750	"""asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)"", ""asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)"""			1058125	Standard	NM_005787		Approved	NOT56L, Not56, CDGS4, D16Ertd36e	uc003fne.2	Q92685	OTTHUMG00000156823	ENST00000397676.3:c.1279T>C	3.37:g.183960340A>G	ENSP00000380793:p.Phe427Leu					ALG3_ENST00000445626.2_Missense_Mutation_p.F379L|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000397676.3_Missense_Mutation_p.F427L|ALG3_ENST00000418734.2_Missense_Mutation_p.F371L	p.F387L			Q92685	ALG3_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		9	1613	-	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		427					A8JZZ6|Q9BT71	Missense_Mutation	SNP	ENST00000397676.3	37	c.1159T>C	CCDS46968.1	.	.	.	.	.	.	.	.	.	.	A	9.124	1.009650	0.19277	.	.	ENSG00000214160	ENST00000418734;ENST00000397676;ENST00000445626;ENST00000455059	D;D;D;D	0.86562	-1.57;-2.14;-1.97;-1.97	5.18	2.76	0.32466	.	0.707167	0.13044	U	0.418316	T	0.72637	0.3485	N	0.14661	0.345	0.18873	N	0.999981	B;B;B;B	0.23185	0.0;0.001;0.0;0.081	B;B;B;B	0.18263	0.0;0.0;0.0;0.021	T	0.56159	-0.8025	10	0.12103	T	0.63	-19.2481	8.1471	0.31119	0.761:0.0:0.239:0.0	.	379;371;387;427	A8JZZ6;B4DS50;C9J7S5;Q92685	.;.;.;ALG3_HUMAN	L	371;427;379;387	ENSP00000402976:F371L;ENSP00000380793:F427L;ENSP00000402744:F379L;ENSP00000397613:F387L	ENSP00000380793:F427L	F	-	1	0	ALG3	185443034	0.005000	0.15991	0.678000	0.29963	0.680000	0.39746	1.499000	0.35671	0.929000	0.37192	0.379000	0.24179	TTC		0.597	ALG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346033.1	NM_005787		44	154	0	0	0	0.00285205	0	44	154				
PRKD3	23683	broad.mit.edu	37	2	37505102	37505102	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr2:37505102C>T	ENST00000379066.1	-	9	1965	c.1203G>A	c.(1201-1203)atG>atA	p.M401I	PRKD3_ENST00000234179.2_Missense_Mutation_p.M401I			O94806	KPCD3_HUMAN	protein kinase D3	401					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				GTACAACCCTCATTAGCGGAA	0.363																																					Melanoma(80;621 1355 8613 11814 51767)	ENST00000379066.1																			0				breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1201-1203)atG>atA		protein kinase D3							216.0	177.0	190.0					2																	37505102		2203	4300	6503	SO:0001583	missense	23683				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr2:37505102C>T	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.1203G>A	2.37:g.37505102C>T	ENSP00000368356:p.Met401Ile					PRKD3_ENST00000234179.2_Missense_Mutation_p.M401I	p.M401I			O94806	KPCD3_HUMAN			9	1965	-		all_hematologic(82;0.21)	401					D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	c.1203G>A	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	C	31	5.081823	0.94050	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	T;T	0.71341	-0.56;-0.56	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.81479	0.4831	M	0.71206	2.165	0.80722	D	1	P;P	0.45634	0.863;0.643	P;B	0.55222	0.771;0.441	T	0.82271	-0.0540	10	0.56958	D	0.05	-21.6567	19.1993	0.93704	0.0:1.0:0.0:0.0	.	401;401	O94806-2;O94806	.;KPCD3_HUMAN	I	401	ENSP00000368356:M401I;ENSP00000234179:M401I	ENSP00000234179:M401I	M	-	3	0	PRKD3	37358606	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.814000	0.86154	2.526000	0.85167	0.655000	0.94253	ATG		0.363	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813		15	99	0	0	0	0.002450	0	15	99				
NCOR2	9612	broad.mit.edu	37	12	124887093	124887093	+	Silent	SNP	C	C	T			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr12:124887093C>T	ENST00000405201.1	-	14	1497	c.1497G>A	c.(1495-1497)caG>caA	p.Q499Q	NCOR2_ENST00000397355.1_Silent_p.Q499Q|NCOR2_ENST00000404621.1_Silent_p.Q498Q|NCOR2_ENST00000429285.2_Silent_p.Q498Q|NCOR2_ENST00000356219.3_Silent_p.Q499Q|NCOR2_ENST00000404121.2_Silent_p.Q69Q			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	499	Poly-Gln.				cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)	p.Q499Q(9)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		gctgctgctgctgttgttgct	0.617																																						ENST00000356219.3																			9	Substitution - coding silent(9)	p.Q499Q(9)	endometrium(4)|large_intestine(3)|kidney(2)	breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1495-1497)caG>caA		nuclear receptor corepressor 2							9.0	10.0	10.0					12																	124887093		2051	4183	6234	SO:0001819	synonymous_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124887093C>T	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1497G>A	12.37:g.124887093C>T						NCOR2_ENST00000429285.2_Silent_p.Q498Q|NCOR2_ENST00000405201.1_Silent_p.Q499Q|NCOR2_ENST00000404621.1_Silent_p.Q498Q|NCOR2_ENST00000404121.2_Silent_p.Q69Q|NCOR2_ENST00000397355.1_Silent_p.Q499Q	p.Q499Q	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	15	1652	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		499			Poly-Gln.		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	c.1497G>A	CCDS41858.2																																																																																				0.617	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		3	7	0	0	0	0.004672	0	3	7				
CASZ1	54897	broad.mit.edu	37	1	10714479	10714479	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr1:10714479C>T	ENST00000377022.3	-	10	2152	c.1835G>A	c.(1834-1836)tGc>tAc	p.C612Y	CASZ1_ENST00000344008.5_Missense_Mutation_p.C612Y|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	612					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CGCTTACCTGCAGTGGAAGTG	0.652																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(1834-1836)tGc>tAc		castor zinc finger 1							86.0	80.0	82.0					1																	10714479		2203	4300	6503	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10714479C>T	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1835G>A	1.37:g.10714479C>T	ENSP00000366221:p.Cys612Tyr					CASZ1_ENST00000344008.5_Missense_Mutation_p.C612Y	p.C612Y	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	10	2152	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	612					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.1835G>A	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	C	30	5.050467	0.93740	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.87	4.87	0.63330	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	D	0.84074	0.5392	M	0.86028	2.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.91635	0.999;0.999;0.997	D	0.87064	0.2155	9	0.87932	D	0	.	18.4056	0.90535	0.0:1.0:0.0:0.0	.	636;612;612	B7Z1S3;Q86V15-2;Q86V15	.;.;CASZ1_HUMAN	Y	612	.	ENSP00000339445:C612Y	C	-	2	0	CASZ1	10637066	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.372000	0.79612	2.421000	0.82119	0.561000	0.74099	TGC		0.652	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		24	51	0	0	0	0.002299	0	24	51				
BLNK	29760	broad.mit.edu	37	10	97987176	97987176	+	Silent	SNP	G	G	A			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr10:97987176G>A	ENST00000224337.5	-	5	492	c.351C>T	c.(349-351)ggC>ggT	p.G117G	BLNK_ENST00000413476.2_Silent_p.G117G|BLNK_ENST00000371176.2_Silent_p.G117G|BLNK_ENST00000427367.2_Silent_p.G117G	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	117	Pro-rich.				B cell differentiation (GO:0030183)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		CTATATACTCGCCTCTGGCGA	0.652																																						ENST00000224337.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14						c.(349-351)ggC>ggT		B-cell linker							72.0	66.0	68.0					10																	97987176		2203	4300	6503	SO:0001819	synonymous_variant	29760				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr10:97987176G>A	AF068180	CCDS7446.1, CCDS44464.1, CCDS58091.1, CCDS73171.1	10q23.2-q23.33	2014-09-17			ENSG00000095585	ENSG00000095585		"""SH2 domain containing"""	14211	protein-coding gene	gene with protein product	"""B-cell adapter containing a SH2 domain protein"", ""B-cell activation"", ""Src homology [SH2] domain-containing leukocyte protein of 65 kD"", ""B cell adaptor containing SH2 domain"""	604515				9697839, 10583958	Standard	NM_013314		Approved	SLP65, Ly57, SLP-65, BLNK-s, BASH, bca	uc001kls.4	Q8WV28	OTTHUMG00000018827	ENST00000224337.5:c.351C>T	10.37:g.97987176G>A						BLNK_ENST00000413476.2_Silent_p.G117G|BLNK_ENST00000427367.2_Silent_p.G117G|BLNK_ENST00000371176.2_Silent_p.G117G	p.G117G	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)	5	492	-		Colorectal(252;0.083)	117			Pro-rich.		O75498|O75499|Q2MD49	Silent	SNP	ENST00000224337.5	37	c.351C>T	CCDS7446.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.063781	0.36373	.	.	ENSG00000095585	ENST00000393889	.	.	.	5.83	2.72	0.32119	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.4359	0.21823	0.0894:0.0:0.4622:0.4484	.	.	.	.	.	-1	.	.	.	-	.	.	BLNK	97977166	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	0.524000	0.22940	0.813000	0.34350	0.555000	0.69702	.		0.652	BLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049593.1	NM_013314		35	61	0	0	0	0.003271	0	35	61				
ABO	28	broad.mit.edu	37	9	136132874	136132874	+	RNA	SNP	G	G	A			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr9:136132874G>A	ENST00000453660.2	-	0	306				RP11-430N14.4_ENST00000606717.1_RNA			P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation (GO:0006486)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosylgalactoside 3-alpha-galactosyltransferase activity (GO:0004381)|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity (GO:0004380)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		GATGTTGAATGTGCCCTCCCA	0.557																																						ENST00000453660.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11								ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)							117.0	133.0	128.0					9																	136132874		2132	4250	6382			28				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr9:136132874G>A	AF134415		9q34.2	2014-07-19			ENSG00000175164	ENSG00000175164	2.4.1.40, 2.4.1.37	"""Blood group antigens"", ""Glycosyltransferase family 6 domain containing"""	79	protein-coding gene	gene with protein product		110300				184030	Standard	NM_020469		Approved	A3GALNT, A3GALT1	uc004cda.1	P16442	OTTHUMG00000020872		9.37:g.136132874G>A										P16442	BGAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)	0	306	-								B0JDB9|O14758|Q14490|Q53I57|Q6ISD4|Q6KFZ2|Q70V27|Q99484|Q99485|Q9NY01|Q9UQ68|Q9UQ69	RNA	SNP	ENST00000453660.2	37																																																																																						0.557	ABO-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000054907.4	NM_020469		33	38	0	0	0	0.002096	0	33	38				
ZNF737	100129842	broad.mit.edu	37	19	20728546	20728546	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr19:20728546G>C	ENST00000427401.4	-	4	557	c.463C>G	c.(463-465)Cat>Gat	p.H155D		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	155					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						GAAAATTTATGAATGACTTTC	0.308																																						ENST00000427401.4																			0				breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(463-465)Cat>Gat		zinc finger protein 737							37.0	28.0	30.0					19																	20728546		692	1589	2281	SO:0001583	missense	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20728546G>C	BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.463C>G	19.37:g.20728546G>C	ENSP00000395733:p.His155Asp						p.H155D	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN			4	557	-			155					C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	c.463C>G	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	g	2.502	-0.315002	0.05422	.	.	ENSG00000237440	ENST00000427401	T	0.49720	0.77	0.965	-1.12	0.09808	.	.	.	.	.	T	0.52500	0.1738	M	0.82517	2.595	0.09310	N	1	B	0.30068	0.267	B	0.41813	0.367	T	0.56086	-0.8037	9	0.48119	T	0.1	.	3.6402	0.08163	0.3417:0.0:0.6583:0.0	.	155	C9JHM3	.	D	155	ENSP00000395733:H155D	ENSP00000395733:H155D	H	-	1	0	ZNF737	20520386	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-1.138000	0.03216	-0.486000	0.06744	-0.482000	0.04802	CAT		0.308	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		17	29	0	0	0	0.004007	0	17	29				
ZSCAN5A	79149	broad.mit.edu	37	19	56732960	56732960	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr19:56732960T>G	ENST00000587340.1	-	7	2170	c.1475A>C	c.(1474-1476)gAa>gCa	p.E492A	ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.E375A|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.E491A|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.E492A|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.E346A			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	492					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGAAGTAGCTTCTGGATGTGT	0.433																																						ENST00000587340.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1474-1476)gAa>gCa		zinc finger and SCAN domain containing 5A							105.0	89.0	95.0					19																	56732960		2203	4300	6503	SO:0001583	missense	79149				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56732960T>G	AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"""-"", ""Zinc fingers, C2H2-type"""	23710	protein-coding gene	gene with protein product			"""zinc finger protein 495"", ""zinc finger and SCAN domain containing 5"""	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.1475A>C	19.37:g.56732960T>G	ENSP00000467631:p.Glu492Ala					ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.E375A|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.E491A|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.E346A|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.E492A	p.E492A			Q9BUG6	ZSA5A_HUMAN			7	2170	-			492					B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	ENST00000587340.1	37	c.1475A>C	CCDS12941.1	.	.	.	.	.	.	.	.	.	.	T	7.352	0.623131	0.14193	.	.	ENSG00000131848	ENST00000391713;ENST00000254165	T;T	0.07908	3.17;3.15	1.53	1.53	0.23141	Zinc finger, C2H2 (1);	.	.	.	.	T	0.04407	0.0121	L	0.27053	0.805	0.09310	N	1	P;P	0.43094	0.799;0.799	B;B	0.33339	0.162;0.162	T	0.37009	-0.9724	9	0.49607	T	0.09	.	3.2857	0.06931	0.0:0.2247:0.0:0.7753	.	375;492	B4DX98;Q9BUG6	.;ZSA5A_HUMAN	A	492;375	ENSP00000375593:E492A;ENSP00000254165:E375A	ENSP00000254165:E375A	E	-	2	0	ZSCAN5A	61424772	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.301000	0.08232	0.969000	0.38237	0.402000	0.26972	GAA		0.433	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1	NM_024303		30	50	0	0	0	0.002445	0	30	50				
PKM	5315	broad.mit.edu	37	15	72501133	72501133	+	Missense_Mutation	SNP	G	G	A	rs143294717		TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr15:72501133G>A	ENST00000335181.5	-	6	768	c.665C>T	c.(664-666)tCg>tTg	p.S222L	PKM_ENST00000389093.3_Missense_Mutation_p.S222L|PKM_ENST00000568459.1_Missense_Mutation_p.S222L|PKM_ENST00000565154.1_Missense_Mutation_p.S222L|PKM_ENST00000449901.2_Missense_Mutation_p.S207L|PKM_ENST00000565184.1_Missense_Mutation_p.S222L|PKM_ENST00000319622.6_Missense_Mutation_p.S222L|PKM_ENST00000568883.1_Missense_Mutation_p.S57L	NM_002654.4	NP_002645.3	P14618	KPYM_HUMAN	pyruvate kinase, muscle	222					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|programmed cell death (GO:0012501)|small molecule metabolic process (GO:0044281)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			endometrium(1)|lung(7)	8					Pyruvic acid(DB00119)	GTCCTTCTCCGACACAGCAGG	0.547																																						ENST00000319622.6																			0				endometrium(1)|lung(7)	8						c.(664-666)tCg>tTg		pyruvate kinase, muscle		G	LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER	1,4397	2.1+/-5.4	0,1,2198	101.0	92.0	95.0		887,443,620,680,665,665,665	5.2	0.9	15	dbSNP_134	95	0,8594		0,0,4297	yes	missense,missense,missense,missense,missense,missense,missense	PKM2	NM_001206796.1,NM_001206797.1,NM_001206798.1,NM_001206799.1,NM_002654.4,NM_182470.2,NM_182471.2	145,145,145,145,145,145,145	0,1,6495	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	296/606,148/458,207/517,227/537,222/532,222/532,222/532	72501133	1,12991	2199	4297	6496	SO:0001583	missense	5315							g.chr15:72501133G>A	M23725	CCDS32284.1, CCDS32285.1, CCDS55972.1, CCDS73752.1	15q23	2012-10-02		2012-05-23	ENSG00000067225	ENSG00000067225	2.7.1.40		9021	protein-coding gene	gene with protein product		179050		PKM2		2040271	Standard	NM_002654		Approved	THBP1, OIP3, PK3	uc002atr.1	P14618	OTTHUMG00000172709	ENST00000335181.5:c.665C>T	15.37:g.72501133G>A	ENSP00000334983:p.Ser222Leu					PKM_ENST00000449901.2_Missense_Mutation_p.S207L|PKM_ENST00000568459.1_Missense_Mutation_p.S222L|PKM_ENST00000389093.3_Missense_Mutation_p.S222L|PKM_ENST00000568883.1_Missense_Mutation_p.S57L|PKM_ENST00000565154.1_Missense_Mutation_p.S222L|PKM_ENST00000335181.5_Missense_Mutation_p.S222L|PKM_ENST00000565184.1_Missense_Mutation_p.S222L	p.S222L	NM_001206796.1|NM_182470.2|NM_182471.2	NP_001193725.1|NP_872270.1|NP_872271.1					6	1121	-								A6NFK3|B2R5N8|B3KRY0|B4DFX8|B4DUU6|P14786|Q53GK4|Q96E76|Q9BWB5|Q9UCV6|Q9UPF2	Missense_Mutation	SNP	ENST00000335181.5	37	c.665C>T	CCDS32284.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.988151	0.74589	2.27E-4	0.0	ENSG00000067225	ENST00000319622;ENST00000335181;ENST00000434220;ENST00000327974;ENST00000389093;ENST00000449901	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.24	5.24	0.73138	Pyruvate/Phosphoenolpyruvate kinase (2);Pyruvate kinase, barrel (1);	0.000000	0.85682	D	0.000000	D	0.84534	0.5493	H	0.95780	3.72	0.80722	D	1	D;P;P;D;P;P;P	0.54047	0.964;0.779;0.689;0.963;0.799;0.487;0.951	P;B;B;P;P;B;P	0.53490	0.727;0.369;0.171;0.545;0.482;0.107;0.489	D	0.89466	0.3740	10	0.87932	D	0	-14.1948	19.1812	0.93623	0.0:0.0:1.0:0.0	.	148;207;202;202;222;222;57	B4DNK4;B4DUU6;B4DRT3;E7EUQ8;P14618;P14618-2;Q504U3	.;.;.;.;KPYM_HUMAN;.;.	L	222;222;149;57;222;207	ENSP00000320171:S222L;ENSP00000334983:S222L;ENSP00000373745:S222L;ENSP00000403365:S207L	ENSP00000320171:S222L	S	-	2	0	PKM2	70288187	1.000000	0.71417	0.945000	0.38365	0.353000	0.29299	7.823000	0.86660	2.601000	0.87937	0.650000	0.86243	TCG		0.547	PKM-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420056.1			36	78	0	0	0	0.004289	0	36	78				
PLEKHO1	51177	broad.mit.edu	37	1	150129105	150129105	+	Splice_Site	SNP	G	G	T			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr1:150129105G>T	ENST00000369124.4	+	4	597	c.319G>T	c.(319-321)Gca>Tca	p.A107S	PLEKHO1_ENST00000025469.6_Splice_Site_p.A107S|PLEKHO1_ENST00000369126.1_5'UTR|PLEKHO1_ENST00000479194.1_3'UTR	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	107	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCCTCACAGGCACCCAACCT	0.478																																						ENST00000369124.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22						c.e4-1		pleckstrin homology domain containing, family O member 1							87.0	85.0	86.0					1																	150129105		2203	4300	6503	SO:0001630	splice_region_variant	51177					cytoplasm|nucleus|plasma membrane		g.chr1:150129105G>T	AF073836	CCDS945.1	1q21.2	2013-01-10			ENSG00000023902	ENSG00000023902		"""Pleckstrin homology (PH) domain containing"""	24310	protein-coding gene	gene with protein product		608335				10799509	Standard	NM_016274		Approved	CKIP-1, OC120	uc001ett.3	Q53GL0	OTTHUMG00000012510	ENST00000369124.4:c.319-1G>T	1.37:g.150129105G>T						PLEKHO1_ENST00000479194.1_3'UTR|PLEKHO1_ENST00000025469.6_Splice_Site_p.A107_splice|PLEKHO1_ENST00000369126.1_5'UTR	p.A107_splice	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		4	597	+	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		107			PH.		Q336K5|Q8IZ51|Q9NRV3|Q9UL48	Splice_Site	SNP	ENST00000369124.4	37	c.318_splice	CCDS945.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111960	0.77210	.	.	ENSG00000023902	ENST00000025469;ENST00000369124	T;T	0.22336	1.96;1.96	4.7	4.7	0.59300	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.170326	0.52532	D	0.000071	T	0.09202	0.0227	N	0.25647	0.755	0.80722	D	1	P	0.39094	0.659	B	0.38880	0.284	T	0.14531	-1.0469	9	.	.	.	-11.5906	17.1577	0.86795	0.0:0.0:1.0:0.0	.	107	Q53GL0	PKHO1_HUMAN	S	107	ENSP00000025469:A107S;ENSP00000358120:A107S	.	A	+	1	0	PLEKHO1	148395729	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.639000	0.74314	2.599000	0.87857	0.561000	0.74099	GCA		0.478	PLEKHO1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034962.1	NM_016274	Missense_Mutation	10	64	1	0	3.07112e-06	0.000978	4.97646e-05	10	64				
POLR2B	5431	broad.mit.edu	37	4	57896547	57896547	+	Silent	SNP	C	C	T			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr4:57896547C>T	ENST00000381227.1	+	25	3830	c.3417C>T	c.(3415-3417)ggC>ggT	p.G1139G	POLR2B_ENST00000441246.2_Silent_p.G1132G|POLR2B_ENST00000314595.5_Silent_p.G1139G|IGFBP7_ENST00000512512.1_5'Flank|POLR2B_ENST00000431623.2_Silent_p.G1064G			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	1139					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AATGCAGGGGCTGCCGCAATA	0.433																																						ENST00000381227.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52						c.(3415-3417)ggC>ggT		polymerase (RNA) II (DNA directed) polypeptide B, 140kDa							49.0	50.0	50.0					4																	57896547		2203	4300	6503	SO:0001819	synonymous_variant	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57896547C>T		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.3417C>T	4.37:g.57896547C>T						POLR2B_ENST00000314595.5_Silent_p.G1139G|POLR2B_ENST00000441246.2_Silent_p.G1132G|POLR2B_ENST00000431623.2_Silent_p.G1064G	p.G1139G			P30876	RPB2_HUMAN			25	3830	+	Glioma(25;0.08)|all_neural(26;0.181)		1139					A8K1A8|Q8IZ61	Silent	SNP	ENST00000381227.1	37	c.3417C>T	CCDS3511.1																																																																																				0.433	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		17	20	0	0	0	0.004007	0	17	20				
UBE3B	89910	broad.mit.edu	37	12	109972570	109972570	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr12:109972570G>T	ENST00000342494.3	+	28	3785	c.3190G>T	c.(3190-3192)Ggc>Tgc	p.G1064C	UBE3B_ENST00000434735.2_Missense_Mutation_p.G1064C	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	1064	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CATGAACACGGGCTTTGAACT	0.617																																						ENST00000342494.3																			0				NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						c.(3190-3192)Ggc>Tgc		ubiquitin protein ligase E3B							99.0	87.0	91.0					12																	109972570		2203	4300	6503	SO:0001583	missense	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109972570G>T	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.3190G>T	12.37:g.109972570G>T	ENSP00000340596:p.Gly1064Cys					UBE3B_ENST00000434735.2_Missense_Mutation_p.G1064C	p.G1064C	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN			28	3785	+			1064			HECT.		A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	ENST00000342494.3	37	c.3190G>T	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732897	0.89482	.	.	ENSG00000151148	ENST00000434735;ENST00000342494	T;T	0.63255	-0.03;-0.03	4.78	4.78	0.61160	HECT (3);	0.000000	0.85682	D	0.000000	D	0.88171	0.6365	H	0.99312	4.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93249	0.6633	10	0.87932	D	0	-6.9724	16.9865	0.86341	0.0:0.0:1.0:0.0	.	1064	Q7Z3V4	UBE3B_HUMAN	C	1064	ENSP00000391529:G1064C;ENSP00000340596:G1064C	ENSP00000340596:G1064C	G	+	1	0	UBE3B	108456953	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	9.172000	0.94808	2.474000	0.83562	0.563000	0.77884	GGC		0.617	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		5	91	1	0	0.000602214	0.000602	0.00919535	5	91				
ATR	545	broad.mit.edu	37	3	142176456	142176456	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr3:142176456G>T	ENST00000350721.4	-	45	7766	c.7645C>A	c.(7645-7647)Cct>Act	p.P2549T	ATR_ENST00000383101.3_Missense_Mutation_p.P2485T	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2549	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CTCATTAAAGGCTCTCGCTGA	0.373								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(7645-7647)Cct>Act	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							88.0	83.0	85.0					3																	142176456		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142176456G>T	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.7645C>A	3.37:g.142176456G>T	ENSP00000343741:p.Pro2549Thr					ATR_ENST00000383101.3_Missense_Mutation_p.P2485T	p.P2549T	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			45	7766	-			2549			PI3K/PI4K.		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.7645C>A	CCDS3124.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.425|5.425	0.263567|0.263567	0.10294|0.10294	.|.	.|.	ENSG00000175054|ENSG00000175054	ENST00000513291|ENST00000350721;ENST00000383101	.|T;T	.|0.75154	.|-0.91;-0.91	5.2|5.2	5.2|5.2	0.72013|0.72013	.|Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.46521|0.46521	0.1397|0.1397	N|N	0.00690|0.00690	-1.25|-1.25	0.80722|0.80722	D|D	1|1	.|P	.|0.39696	.|0.683	.|B	.|0.41412	.|0.356	T|T	0.60255|0.60255	-0.7299|-0.7299	5|10	.|0.05833	.|T	.|0.94	-19.1449|-19.1449	19.0895|19.0895	0.93221|0.93221	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2549	.|Q13535	.|ATR_HUMAN	D|T	395|2549;2485	.|ENSP00000343741:P2549T;ENSP00000372581:P2485T	.|ENSP00000343741:P2549T	A|P	-|-	2|1	0|0	ATR|ATR	143659146|143659146	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.868000|0.868000	0.49771|0.49771	8.009000|8.009000	0.88606|0.88606	2.600000|2.600000	0.87896|0.87896	0.484000|0.484000	0.47621|0.47621	GCC|CCT		0.373	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		40	38	1	0	1.22674e-20	0.001951	2.11747e-19	40	38				
CELF1	10658	broad.mit.edu	37	11	47510570	47510570	+	5'Flank	SNP	C	C	T			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr11:47510570C>T	ENST00000358597.3	-	0	0				CELF1_ENST00000395292.2_5'UTR|CELF1_ENST00000395290.2_5'UTR|CELF1_ENST00000532048.1_Silent_p.K26K|CELF1_ENST00000531165.1_Silent_p.K26K|CELF1_ENST00000310513.5_5'UTR|CELF1_ENST00000361904.3_5'UTR			Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1						embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of translation (GO:0017148)|positive regulation of multicellular organism growth (GO:0040018)|regulation of RNA splicing (GO:0043484)|RNA interference (GO:0016246)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation repressor activity, nucleic acid binding (GO:0000900)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						CGTTCATTTTCTTTGAGCTGT	0.403																																					Pancreas(163;1949 1966 9906 43218 43785)	ENST00000531165.1																			0				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						c.(76-78)aaG>aaA		CUGBP, Elav-like family member 1							71.0	73.0	73.0					11																	47510570		2201	4298	6499	SO:0001631	upstream_gene_variant	10658				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr11:47510570C>T	U63289	CCDS7938.1, CCDS7939.1, CCDS31482.1, CCDS53622.1, CCDS53623.1	11p11	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	2549	protein-coding gene	gene with protein product	"""CUG RNA-binding protein"", ""nuclear polyadenylated RNA-binding protein, 50-kD"", ""bruno-like 2"", ""embryo deadenylation element binding protein"""	601074	"""CUG triplet repeat, RNA-binding protein 1"", ""CUG triplet repeat, RNA binding protein 1"""	CUGBP1		8948631, 9371827	Standard	NM_006560		Approved	CUG-BP, hNab50, BRUNOL2, NAB50, CUGBP, NAPOR, EDEN-BP	uc001nfl.3	Q92879			11.37:g.47510570C>T	Exception_encountered					CELF1_ENST00000532048.1_Silent_p.K26K|CELF1_ENST00000395290.2_5'UTR|CELF1_ENST00000361904.3_5'UTR|CELF1_ENST00000395292.2_5'UTR|CELF1_ENST00000310513.5_5'UTR	p.K26K			Q92879	CELF1_HUMAN			4	356	-			0			RRM 1.		B4E2U5|D3DQS0|F8W940|Q4LE52|Q9NP83|Q9NR06	Silent	SNP	ENST00000358597.3	37	c.78G>A	CCDS31482.1																																																																																				0.403	CELF1-024	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398352.1	NM_006560		7	60	0	0	0	0.001984	0	7	60				
NXPH2	11249	broad.mit.edu	37	2	139429083	139429083	+	Silent	SNP	G	G	A			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr2:139429083G>A	ENST00000272641.3	-	2	310	c.204C>T	c.(202-204)ccC>ccT	p.P68P		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	68	II.				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		CCATGGGGCCGGGCTTGGGCA	0.552																																						ENST00000272641.3																			0				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22						c.(202-204)ccC>ccT		neurexophilin 2							113.0	111.0	112.0					2																	139429083		1919	4134	6053	SO:0001819	synonymous_variant	11249				neuropeptide signaling pathway	extracellular region		g.chr2:139429083G>A	AF043467	CCDS46421.1	2q22.1	2008-05-15			ENSG00000144227	ENSG00000144227			8076	protein-coding gene	gene with protein product		604635				9570794	Standard	NM_007226		Approved	NPH2	uc002tvi.3	O95156	OTTHUMG00000153636	ENST00000272641.3:c.204C>T	2.37:g.139429083G>A							p.P68P	NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.101)	2	310	-			68			II.		B7WP24|Q494R1|Q75QC3	Silent	SNP	ENST00000272641.3	37	c.204C>T	CCDS46421.1																																																																																				0.552	NXPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331901.1			52	107	0	0	0	0.003610	0	52	107				
ENO2	2026	broad.mit.edu	37	12	7025014	7025014	+	Silent	SNP	C	C	T			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr12:7025014C>T	ENST00000535366.1	+	1	644	c.18C>T	c.(16-18)atC>atT	p.I6I	ENO2_ENST00000544774.1_Silent_p.I6I|ENO2_ENST00000545045.2_Silent_p.I6I|ENO2_ENST00000541477.1_Silent_p.I6I|ENO2_ENST00000229277.1_Silent_p.I6I|ENO2_ENST00000538763.1_Silent_p.I6I			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	6					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perikaryon (GO:0043204)|phosphopyruvate hydratase complex (GO:0000015)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TAGAGAAGATCTGGGCCCGGG	0.577																																						ENST00000535366.1																			0				endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(16-18)atC>atT		enolase 2 (gamma, neuronal)							112.0	125.0	121.0					12																	7025014		2203	4300	6503	SO:0001819	synonymous_variant	2026				gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity	g.chr12:7025014C>T	M22349	CCDS8570.1	12p13	2012-10-02				ENSG00000111674	4.2.1.11		3353	protein-coding gene	gene with protein product		131360					Standard	NM_001975		Approved		uc001qru.1	P09104		ENST00000535366.1:c.18C>T	12.37:g.7025014C>T						ENO2_ENST00000229277.1_Silent_p.I6I|ENO2_ENST00000545045.2_Silent_p.I6I|ENO2_ENST00000544774.1_Silent_p.I6I|ENO2_ENST00000538763.1_Silent_p.I6I|ENO2_ENST00000541477.1_Silent_p.I6I	p.I6I			P09104	ENOG_HUMAN			1	644	+			6					B7Z2X9|Q96J33	Silent	SNP	ENST00000535366.1	37	c.18C>T	CCDS8570.1																																																																																				0.577	ENO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401786.1			64	282	0	0	0	0.003610	0	64	282				
PCGF3	10336	broad.mit.edu	37	4	755159	755159	+	Silent	SNP	G	G	A			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr4:755159G>A	ENST00000362003.5	+	9	950	c.555G>A	c.(553-555)ctG>ctA	p.L185L	PCGF3_ENST00000470161.2_Silent_p.L185L|RP11-440L14.1_ENST00000503571.1_RNA|PCGF3_ENST00000521023.2_Silent_p.L151L|PCGF3_ENST00000505655.2_Silent_p.L185L	NM_006315.4	NP_006306.2	Q3KNV8	PCGF3_HUMAN	polycomb group ring finger 3	185					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						TCTTGCATCTGAAGAAGTTCA	0.498																																						ENST00000362003.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						c.(553-555)ctG>ctA		polycomb group ring finger 3							80.0	85.0	83.0					4																	755159		1953	4145	6098	SO:0001819	synonymous_variant	10336				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding	g.chr4:755159G>A	AK093869	CCDS3339.2	4p16.3	2013-01-09	2005-01-17	2005-01-19	ENSG00000185619	ENSG00000185619		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	10066	protein-coding gene	gene with protein product			"""ring finger protein 3"""	RNF3			Standard	XM_005272250		Approved	FLJ36550, DONG1, RNF3A, MGC40413	uc003gbe.3	Q3KNV8	OTTHUMG00000119000	ENST00000362003.5:c.555G>A	4.37:g.755159G>A						PCGF3_ENST00000521023.2_Silent_p.L151L|PCGF3_ENST00000470161.2_Silent_p.L185L|PCGF3_ENST00000505655.2_Silent_p.L185L	p.L185L	NM_006315.4	NP_006306.2	Q3KNV8	PCGF3_HUMAN			9	950	+			185					D3DVN1|O15262	Silent	SNP	ENST00000362003.5	37	c.555G>A	CCDS3339.2																																																																																				0.498	PCGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239197.2	NM_006315		6	67	0	0	0	0.001168	0	6	67				
POM121L9P	29774	broad.mit.edu	37	22	24659621	24659621	+	RNA	SNP	T	T	C			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr22:24659621T>C	ENST00000414583.2	+	0	3146					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		CCTGGATGTCTGCGGCCACAC	0.637																																						ENST00000414583.2																			0																																																			29774							g.chr22:24659621T>C	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659621T>C								NR_003714.1						0	3146	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.637	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		5	25	0	0	0	0.000602	0	5	25				
BTNL8	79908	broad.mit.edu	37	5	180335857	180335857	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr5:180335857G>T	ENST00000340184.4	+	2	527	c.321G>T	c.(319-321)ttG>ttT	p.L107F	Y_RNA_ENST00000410920.1_RNA|BTNL8_ENST00000231229.4_Missense_Mutation_p.L107F|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000505126.1_5'Flank|BTNL8_ENST00000508408.1_Missense_Mutation_p.L107F|BTNL8_ENST00000533815.2_5'Flank|BTNL8_ENST00000511704.1_Intron	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	107	Ig-like V-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTACTGTGTTGGATGCTGGCC	0.473																																						ENST00000231229.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28						c.(319-321)ttG>ttT		butyrophilin-like 8							214.0	218.0	217.0					5																	180335857		2203	4296	6499	SO:0001583	missense	79908					integral to membrane		g.chr5:180335857G>T	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.321G>T	5.37:g.180335857G>T	ENSP00000342197:p.Leu107Phe					BTNL8_ENST00000508408.1_Missense_Mutation_p.L107F|BTNL8_ENST00000340184.4_Missense_Mutation_p.L107F|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000511704.1_Intron	p.L107F	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	555	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	107			Ig-like V-type 1.		A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	37	c.321G>T	CCDS43413.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.015095	0.35511	.	.	ENSG00000113303	ENST00000231229;ENST00000340184;ENST00000508408	T;T;T	0.02606	4.23;4.23;4.23	2.74	-3.19	0.05171	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03220	0.0094	N	0.13098	0.295	0.09310	N	1	D;D;D	0.67145	0.996;0.996;0.975	D;D;P	0.63488	0.915;0.915;0.767	T	0.34675	-0.9819	9	0.14656	T	0.56	.	4.0324	0.09714	0.4867:0.0:0.3495:0.1637	.	107;107;107	F2Z2B2;A6NEX6;Q6UX41	.;.;BTNL8_HUMAN	F	107	ENSP00000231229:L107F;ENSP00000342197:L107F;ENSP00000424585:L107F	ENSP00000231229:L107F	L	+	3	2	BTNL8	180268463	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-3.451000	0.00466	-0.639000	0.05502	0.436000	0.28706	TTG		0.473	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		13	207	1	0	1.49906e-05	0.002450	0.000238051	13	207				
SARNP	84324	broad.mit.edu	37	12	56182870	56182870	+	Missense_Mutation	SNP	T	T	C	rs138765992		TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr12:56182870T>C	ENST00000336133.3	-	9	544	c.490A>G	c.(490-492)Atc>Gtc	p.I164V	SARNP_ENST00000444631.2_Missense_Mutation_p.I104V|RP11-762I7.5_ENST00000546837.1_Missense_Mutation_p.N476S|SARNP_ENST00000552080.1_Missense_Mutation_p.I164V	NM_033082.3	NP_149073.1	P82979	SARNP_HUMAN	SAP domain containing ribonucleoprotein	164					mRNA export from nucleus (GO:0006406)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	intracellular membrane-bounded organelle (GO:0043231)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	6						TTTCTGGAGATTGAAGAGACA	0.368																																						ENST00000546837.1																			0											c.(1426-1428)aAt>aGt				T	VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	113.0	103.0	106.0		490	3.9	1.0	12	dbSNP_134	106	0,8600		0,0,4300	no	missense	SARNP	NM_033082.3	29	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign	164/211	56182870	1,13005	2203	4300	6503	SO:0001583	missense	84324							g.chr12:56182870T>C	AJ409089	CCDS8892.1	12q13.2	2009-07-09				ENSG00000205323			24432	protein-coding gene	gene with protein product	"""hepatocellular carcinoma 1"", ""cytokine induced protein 29 kDa"""	610049				11356193, 11922608	Standard	NM_033082		Approved	THO1, Hcc-1, CIP29		P82979	OTTHUMG00000170441	ENST00000336133.3:c.490A>G	12.37:g.56182870T>C	ENSP00000337632:p.Ile164Val					SARNP_ENST00000444631.2_Missense_Mutation_p.I104V|SARNP_ENST00000336133.3_Missense_Mutation_p.I164V|SARNP_ENST00000552080.1_Missense_Mutation_p.I164V	p.N476S							14	1426	-								A8K393|Q9P066	Missense_Mutation	SNP	ENST00000336133.3	37	c.1427A>G	CCDS8892.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	1.508|1.508	-0.550269|-0.550269	0.03996|0.03996	2.27E-4|2.27E-4	0.0|0.0	ENSG00000205323|ENSG00000257390	ENST00000444631;ENST00000336133;ENST00000552080|ENST00000546837	.|.	.|.	.|.	4.99|4.99	3.87|3.87	0.44632|0.44632	.|.	0.308918|.	0.37304|.	N|.	0.002142|.	T|T	0.11367|0.11367	0.0277|0.0277	N|N	0.01242|0.01242	-0.935|-0.935	0.30568|0.30568	N|N	0.763848|0.763848	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.12837|0.12837	-1.0532|-1.0532	9|5	0.02654|.	T|.	1|.	-16.7878|-16.7878	6.8802|6.8802	0.24168|0.24168	0.0:0.1004:0.0:0.8996|0.0:0.1004:0.0:0.8996	.|.	164|.	P82979|.	SARNP_HUMAN|.	V|S	104;164;164|476	.|.	ENSP00000337632:I164V|.	I|N	-|-	1|2	0|0	SARNP|RP11-762I7.5	54469137|54469137	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	1.389000|1.389000	0.34453|0.34453	2.234000|2.234000	0.73211|0.73211	0.460000|0.460000	0.39030|0.39030	ATC|AAT		0.368	SARNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409159.2	NM_033082		30	70	0	0	0	0.001512	0	30	70				
STAC2	342667	broad.mit.edu	37	17	37371437	37371437	+	Silent	SNP	G	G	A			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr17:37371437G>A	ENST00000333461.5	-	5	1002	c.633C>T	c.(631-633)ggC>ggT	p.G211G		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	211					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						CCAGGGAGGTGCCATAGCGCA	0.592																																						ENST00000333461.5																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						c.(631-633)ggC>ggT		SH3 and cysteine rich domain 2							134.0	122.0	126.0					17																	37371437		2203	4300	6503	SO:0001819	synonymous_variant	342667				intracellular signal transduction		metal ion binding	g.chr17:37371437G>A	AJ608762	CCDS11335.1	17q21.2	2012-11-19			ENSG00000141750	ENSG00000141750			23990	protein-coding gene	gene with protein product							Standard	NM_198993		Approved	24b2	uc002hrs.3	Q6ZMT1	OTTHUMG00000179039	ENST00000333461.5:c.633C>T	17.37:g.37371437G>A							p.G211G	NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN			5	1002	-			211					Q32MA3	Silent	SNP	ENST00000333461.5	37	c.633C>T	CCDS11335.1																																																																																				0.592	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444533.2	NM_198993		32	59	0	0	0	0.004289	0	32	59				
BTNL8	79908	broad.mit.edu	37	5	180335874	180335874	+	Missense_Mutation	SNP	G	G	T	rs529094290		TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr5:180335874G>T	ENST00000340184.4	+	2	544	c.338G>T	c.(337-339)gGg>gTg	p.G113V	Y_RNA_ENST00000410920.1_RNA|BTNL8_ENST00000231229.4_Missense_Mutation_p.G113V|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000505126.1_5'Flank|BTNL8_ENST00000508408.1_Missense_Mutation_p.G113V|BTNL8_ENST00000533815.2_5'Flank|BTNL8_ENST00000511704.1_Intron	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	113	Ig-like V-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCCTCTATGGGTGCAGGATT	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		18316	0.0		0.0	False		,,,				2504	0.001					ENST00000231229.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28						c.(337-339)gGg>gTg		butyrophilin-like 8							203.0	210.0	207.0					5																	180335874		2203	4296	6499	SO:0001583	missense	79908					integral to membrane		g.chr5:180335874G>T	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.338G>T	5.37:g.180335874G>T	ENSP00000342197:p.Gly113Val					BTNL8_ENST00000508408.1_Missense_Mutation_p.G113V|BTNL8_ENST00000340184.4_Missense_Mutation_p.G113V|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000511704.1_Intron	p.G113V	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	572	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	113			Ig-like V-type 1.		A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	ENST00000340184.4	37	c.338G>T	CCDS43413.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.715032	0.30413	.	.	ENSG00000113303	ENST00000231229;ENST00000340184;ENST00000508408	T;T;T	0.64618	-0.11;-0.11;-0.11	2.74	1.85	0.25348	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64843	0.2635	L	0.42245	1.32	0.09310	N	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.995	T	0.52343	-0.8588	9	0.17369	T	0.5	.	4.7484	0.13049	0.3105:0.0:0.6895:0.0	.	113;113;113	F2Z2B2;A6NEX6;Q6UX41	.;.;BTNL8_HUMAN	V	113	ENSP00000231229:G113V;ENSP00000342197:G113V;ENSP00000424585:G113V	ENSP00000231229:G113V	G	+	2	0	BTNL8	180268480	0.002000	0.14202	0.007000	0.13788	0.011000	0.07611	0.475000	0.22164	0.485000	0.27652	0.436000	0.28706	GGG		0.478	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		12	209	1	0	0.000151284	0.001855	0.00235529	12	209				
MUC16	94025	broad.mit.edu	37	19	9074800	9074800	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr19:9074800T>G	ENST00000397910.4	-	3	12849	c.12646A>C	c.(12646-12648)Agt>Cgt	p.S4216R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4218	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAGGTAAACTTGTGCCAGGT	0.498																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(12646-12648)Agt>Cgt		mucin 16, cell surface associated							78.0	74.0	75.0					19																	9074800		1942	4161	6103	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9074800T>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.12646A>C	19.37:g.9074800T>G	ENSP00000381008:p.Ser4216Arg						p.S4216R	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	12849	-			4218			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.12646A>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	3.529	-0.096096	0.07010	.	.	ENSG00000181143	ENST00000397910	T	0.29397	1.57	1.31	1.31	0.21738	.	.	.	.	.	T	0.40909	0.1136	L	0.46157	1.445	.	.	.	D	0.69078	0.997	D	0.71184	0.972	T	0.49303	-0.8954	8	0.87932	D	0	.	4.7679	0.13141	0.0:0.0:0.0:1.0	.	4216	B5ME49	.	R	4216	ENSP00000381008:S4216R	ENSP00000381008:S4216R	S	-	1	0	MUC16	8935800	0.002000	0.14202	0.005000	0.12908	0.027000	0.11550	1.225000	0.32551	0.848000	0.35191	0.260000	0.18958	AGT		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		11	62	0	0	0	0.000673	0	11	62				
ETFDH	2110	broad.mit.edu	37	4	159620266	159620266	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr4:159620266A>G	ENST00000511912.1	+	9	1432	c.1100A>G	c.(1099-1101)aAt>aGt	p.N367S	ETFDH_ENST00000307738.5_Missense_Mutation_p.N320S|U3_ENST00000607547.1_RNA	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	367					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		AGAGCTCTCAATGAAGGTGGC	0.378																																						ENST00000511912.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28						c.(1099-1101)aAt>aGt		electron-transferring-flavoprotein dehydrogenase							116.0	110.0	112.0					4																	159620266		2203	4300	6503	SO:0001583	missense	2110				fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding	g.chr4:159620266A>G	S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.1100A>G	4.37:g.159620266A>G	ENSP00000426638:p.Asn367Ser					ETFDH_ENST00000307738.5_Missense_Mutation_p.N320S	p.N367S	NM_004453.2	NP_004444.2	Q16134	ETFD_HUMAN		COAD - Colon adenocarcinoma(41;0.0172)	9	1432	+	all_hematologic(180;0.24)	Renal(120;0.0458)	367					B4E3R9|J3KND9|Q7Z347	Missense_Mutation	SNP	ENST00000511912.1	37	c.1100A>G	CCDS3800.1	.	.	.	.	.	.	.	.	.	.	A	12.64	1.999520	0.35320	.	.	ENSG00000171503	ENST00000511912;ENST00000307738	D;D	0.87491	-2.26;-2.26	5.97	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.82130	0.4970	L	0.52206	1.635	0.58432	D	0.999999	P;P;P	0.44521	0.691;0.691;0.837	B;B;B	0.40199	0.137;0.137;0.322	T	0.77765	-0.2465	10	0.17369	T	0.5	-13.3184	12.0902	0.53722	0.9329:0.0:0.0671:0.0	.	320;306;367	B4E3R9;B4DEQ0;Q16134	.;.;ETFD_HUMAN	S	367;320	ENSP00000426638:N367S;ENSP00000303552:N320S	ENSP00000303552:N320S	N	+	2	0	ETFDH	159839716	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.297000	0.96120	1.080000	0.41073	0.477000	0.44152	AAT		0.378	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2			16	14	0	0	0	0.004990	0	16	14				
RPL36	25873	broad.mit.edu	37	19	5691333	5691333	+	Missense_Mutation	SNP	C	C	G	rs371348781		TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr19:5691333C>G	ENST00000577222.1	+	5	641	c.97C>G	c.(97-99)Ctg>Gtg	p.L33V	RPL36_ENST00000579649.1_Missense_Mutation_p.L33V|RPL36_ENST00000579446.1_Missense_Mutation_p.L33V|RPL36_ENST00000347512.3_Missense_Mutation_p.L33V|RPL36_ENST00000394580.2_Missense_Mutation_p.L33V			Q9Y3U8	RL36_HUMAN	ribosomal protein L36	33					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|upper_aerodigestive_tract(1)	2						CCCCTAGCGTCTGACCAAACA	0.602											OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000577222.1																			0				breast(1)|upper_aerodigestive_tract(1)	2						c.(97-99)Ctg>Gtg		ribosomal protein L36		C	VAL/LEU,VAL/LEU	0,4406		0,0,2203	72.0	73.0	73.0		97,97	1.4	1.0	19		73	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RPL36	NM_015414.3,NM_033643.2	32,32	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	benign,benign	33/106,33/106	5691333	1,13005	2203	4300	6503	SO:0001583	missense	25873				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|structural constituent of ribosome	g.chr19:5691333C>G		CCDS12147.1	19p13.2	2011-04-06				ENSG00000130255		"""L ribosomal proteins"""	13631	protein-coding gene	gene with protein product							Standard	NM_033643		Approved	DKFZp566B023, L36	uc002mcv.3	Q9Y3U8		ENST00000577222.1:c.97C>G	19.37:g.5691333C>G	ENSP00000464342:p.Leu33Val		OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	628	RPL36_ENST00000347512.3_Missense_Mutation_p.L33V|RPL36_ENST00000579649.1_Missense_Mutation_p.L33V|RPL36_ENST00000394580.2_Missense_Mutation_p.L33V|RPL36_ENST00000579446.1_Missense_Mutation_p.L33V	p.L33V			Q9Y3U8	RL36_HUMAN			5	641	+			33					B2R4Y1|D6W634|Q6FIG1|Q9UQF6	Missense_Mutation	SNP	ENST00000577222.1	37	c.97C>G	CCDS12147.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.339715	0.24339	0.0	1.16E-4	ENSG00000130255	ENST00000347512;ENST00000394580	T;T	0.44083	0.93;0.93	4.07	1.44	0.22558	.	0.000000	0.64402	U	0.000006	T	0.37652	0.1011	L	0.56340	1.77	0.58432	D	0.999993	B	0.15473	0.013	B	0.29862	0.108	T	0.27673	-1.0067	10	0.46703	T	0.11	.	8.792	0.34857	0.0:0.7594:0.0:0.2406	.	33	Q9Y3U8	RL36_HUMAN	V	33	ENSP00000252543:L33V;ENSP00000378081:L33V	ENSP00000252543:L33V	L	+	1	2	RPL36	5642333	1.000000	0.71417	0.998000	0.56505	0.007000	0.05969	2.464000	0.45067	0.703000	0.31848	-0.373000	0.07131	CTG		0.602	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442561.1	NM_015414		35	68	0	0	0	0.004878	0	35	68				
FREM2	341640	broad.mit.edu	37	13	39262438	39262438	+	Silent	SNP	G	G	A			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr13:39262438G>A	ENST00000280481.7	+	1	1173	c.957G>A	c.(955-957)aaG>aaA	p.K319K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	319					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTGCACCCAAGCCCAGTTTCG	0.607																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(955-957)aaG>aaA		FRAS1 related extracellular matrix protein 2							106.0	82.0	90.0					13																	39262438		2203	4300	6503	SO:0001819	synonymous_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39262438G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.957G>A	13.37:g.39262438G>A							p.K319K	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	1173	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	319					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.957G>A	CCDS31960.1																																																																																				0.607	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		20	22	0	0	0	0.001523	0	20	22				
COL5A3	50509	broad.mit.edu	37	19	10077031	10077031	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr19:10077031C>T	ENST00000264828.3	-	64	4826	c.4741G>A	c.(4741-4743)Gga>Aga	p.G1581R		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1581	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GTCTCTCCTCCCGCCGTGAAG	0.602																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(4741-4743)Gga>Aga		collagen, type V, alpha 3							59.0	48.0	52.0					19																	10077031		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10077031C>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.4741G>A	19.37:g.10077031C>T	ENSP00000264828:p.Gly1581Arg						p.G1581R	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		64	4826	-			1581			Fibrillar collagen NC1.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.4741G>A	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.559047	0.65538	.	.	ENSG00000080573	ENST00000264828	D	0.91011	-2.77	4.2	4.2	0.49525	Fibrillar collagen, C-terminal (3);	0.279315	0.29515	N	0.011928	D	0.94644	0.8273	M	0.88640	2.97	0.38670	D	0.952299	D	0.69078	0.997	D	0.69142	0.962	D	0.94061	0.7326	10	0.08837	T	0.75	.	14.1431	0.65331	0.0:1.0:0.0:0.0	.	1581	P25940	CO5A3_HUMAN	R	1581	ENSP00000264828:G1581R	ENSP00000264828:G1581R	G	-	1	0	COL5A3	9938031	0.230000	0.23740	0.959000	0.39883	0.987000	0.75469	2.974000	0.49272	2.181000	0.69327	0.555000	0.69702	GGA		0.602	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		19	26	0	0	0	0.001216	0	19	26				
LIPG	9388	broad.mit.edu	37	18	47101893	47101893	+	Silent	SNP	C	C	T			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr18:47101893C>T	ENST00000261292.4	+	5	1004	c.726C>T	c.(724-726)taC>taT	p.Y242Y	LIPG_ENST00000580036.1_Silent_p.Y242Y|LIPG_ENST00000427224.2_Intron|LIPG_ENST00000577628.1_Silent_p.Y278Y	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	242					cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						TTGACATCTACCCCAATGGGG	0.507																																					Pancreas(126;280 1778 12814 26243 34948)	ENST00000261292.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						c.(724-726)taC>taT		lipase, endothelial							97.0	77.0	84.0					18																	47101893		2203	4300	6503	SO:0001819	synonymous_variant	9388				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	g.chr18:47101893C>T	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.726C>T	18.37:g.47101893C>T						LIPG_ENST00000580036.1_Silent_p.Y242Y|LIPG_ENST00000577628.1_Silent_p.Y278Y|LIPG_ENST00000427224.2_Intron	p.Y242Y	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN			5	1004	+			242					B0LPG6|Q6P9C8|Q6UW82	Silent	SNP	ENST00000261292.4	37	c.726C>T	CCDS11938.1																																																																																				0.507	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033		8	85	0	0	0	0.004482	0	8	85				
ZNF449	203523	broad.mit.edu	37	X	134483238	134483238	+	Splice_Site	SNP	T	T	G			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chrX:134483238T>G	ENST00000339249.4	+	3	698	c.558T>G	c.(556-558)ccT>ccG	p.P186P		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	186					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTGGACCCTGGTAAGGCAA	0.512																																						ENST00000339249.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23						c.e3+1		zinc finger protein 449							126.0	112.0	117.0					X																	134483238		2203	4300	6503	SO:0001630	splice_region_variant	203523				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134483238T>G	AY280801	CCDS14649.1	Xq26.3	2013-01-09			ENSG00000173275	ENSG00000173275		"""-"", ""Zinc fingers, C2H2-type"""	21039	protein-coding gene	gene with protein product		300627					Standard	NM_152695		Approved	ZSCAN19, FLJ23614	uc004eys.3	Q6P9G9	OTTHUMG00000022478	ENST00000339249.4:c.559+1T>G	X.37:g.134483238T>G							p.P186_splice	NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN			3	698	+	Acute lymphoblastic leukemia(192;6.56e-05)		186					Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	Splice_Site	SNP	ENST00000339249.4	37	c.559_splice	CCDS14649.1																																																																																				0.512	ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058411.1	NM_152695	Silent	16	39	0	0	0	0.003163	0	16	39				
OGDH	4967	broad.mit.edu	37	7	44747333	44747333	+	Silent	SNP	C	C	G	rs1135689		TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr7:44747333C>G	ENST00000222673.5	+	22	2991	c.2949C>G	c.(2947-2949)gtC>gtG	p.V983V	OGDH_ENST00000444676.1_Silent_p.V998V|OGDH_ENST00000449767.1_Silent_p.V979V|OGDH_ENST00000543843.1_Silent_p.V934V|OGDH_ENST00000439616.2_Silent_p.V833V|OGDH_ENST00000447398.1_Silent_p.V994V	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	983					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	CCAAGCCCGTCTGGTAAGGCT	0.612																																						ENST00000222673.5																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(2947-2949)gtC>gtG		oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	NADH(DB00157)						71.0	62.0	65.0					7																	44747333		2203	4300	6503	SO:0001819	synonymous_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44747333C>G	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2949C>G	7.37:g.44747333C>G						OGDH_ENST00000543843.1_Silent_p.V934V|OGDH_ENST00000444676.1_Silent_p.V998V|OGDH_ENST00000439616.2_Silent_p.V833V|OGDH_ENST00000449767.1_Silent_p.V979V|OGDH_ENST00000447398.1_Silent_p.V994V	p.V983V	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN			22	2991	+			983					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	c.2949C>G	CCDS34627.1																																																																																				0.612	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			29	52	0	0	0	0.006320	0	29	52				
NRAP	4892	broad.mit.edu	37	10	115391662	115391662	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr10:115391662G>A	ENST00000359988.3	-	17	1938	c.1694C>T	c.(1693-1695)gCc>gTc	p.A565V	NRAP_ENST00000369360.3_Missense_Mutation_p.A530V|NRAP_ENST00000369358.4_Missense_Mutation_p.A565V|NRAP_ENST00000360478.3_Missense_Mutation_p.A530V	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CAGAGACATGGCATCCAGCTT	0.448																																						ENST00000369358.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(1693-1695)gCc>gTc		nebulin-related anchoring protein							162.0	148.0	153.0					10																	115391662		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115391662G>A		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.1694C>T	10.37:g.115391662G>A	ENSP00000353078:p.Ala565Val					NRAP_ENST00000369360.3_Missense_Mutation_p.A530V|NRAP_ENST00000359988.3_Missense_Mutation_p.A565V|NRAP_ENST00000360478.3_Missense_Mutation_p.A530V	p.A565V			Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	17	1938	-		Colorectal(252;0.0233)|Breast(234;0.188)	565						Missense_Mutation	SNP	ENST00000359988.3	37	c.1694C>T	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751227	0.69533	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350;ENST00000369343	T;T;T;T	0.49139	2.4;2.38;0.79;0.79	5.52	5.52	0.82312	.	0.241003	0.42053	D	0.000779	T	0.67477	0.2897	M	0.81112	2.525	0.32015	N	0.60152	P;P;P	0.45768	0.866;0.837;0.866	P;P;P	0.54431	0.507;0.637;0.752	T	0.74740	-0.3563	10	0.66056	D	0.02	.	19.5136	0.95154	0.0:0.0:1.0:0.0	.	565;530;565	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	V	565;530;565;530;294;294	ENSP00000358365:A565V;ENSP00000358367:A530V;ENSP00000353078:A565V;ENSP00000353666:A530V	ENSP00000353078:A565V	A	-	2	0	NRAP	115381652	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.824000	0.55723	2.609000	0.88269	0.580000	0.79431	GCC		0.448	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		53	74	0	0	0	0.003610	0	53	74				
IGF2BP2	10644	broad.mit.edu	37	3	185363333	185363333	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr3:185363333G>A	ENST00000382199.2	-	16	1881	c.1786C>T	c.(1786-1788)Cag>Tag	p.Q596*	IGF2BP2_ENST00000346192.3_Nonsense_Mutation_p.Q553*|IGF2BP2_ENST00000457616.2_Nonsense_Mutation_p.Q602*|IGF2BP2_ENST00000421047.2_Nonsense_Mutation_p.Q539*	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	596					anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TTGCTGCGCTGTGAGGCGACT	0.547																																						ENST00000382199.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20						c.(1786-1788)Cag>Tag		insulin-like growth factor 2 mRNA binding protein 2							65.0	57.0	60.0					3																	185363333		2203	4300	6503	SO:0001587	stop_gained	10644				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr3:185363333G>A	BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"""RNA binding motif (RRM) containing"""	28867	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 2"""	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.1786C>T	3.37:g.185363333G>A	ENSP00000371634:p.Gln596*					IGF2BP2_ENST00000346192.3_Nonsense_Mutation_p.Q553*|IGF2BP2_ENST00000457616.2_Nonsense_Mutation_p.Q602*|IGF2BP2_ENST00000421047.2_Nonsense_Mutation_p.Q539*	p.Q596*	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)		16	1881	-	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		596					A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Nonsense_Mutation	SNP	ENST00000382199.2	37	c.1786C>T	CCDS3273.2	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426418	0.83667	.	.	ENSG00000073792	ENST00000382199;ENST00000421047;ENST00000457616;ENST00000346192	.	.	.	4.53	4.53	0.55603	.	0.374325	0.30732	N	0.008992	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-4.9841	14.6138	0.68534	0.0:0.0:1.0:0.0	.	.	.	.	X	596;539;602;553	.	ENSP00000320204:Q553X	Q	-	1	0	IGF2BP2	186846027	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	9.181000	0.94874	2.245000	0.73994	0.447000	0.29281	CAG		0.547	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157087.2	NM_006548		100	46	0	0	0	0.003610	0	100	46				
KIF3A	11127	broad.mit.edu	37	5	132037805	132037805	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr5:132037805C>G	ENST00000378746.4	-	13	1995	c.1777G>C	c.(1777-1779)Gat>Cat	p.D593H	KIF3A_ENST00000403231.1_Missense_Mutation_p.D620H|KIF3A_ENST00000487055.1_5'UTR|AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000378735.1_Missense_Mutation_p.D596H	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	593					anterior/posterior pattern specification (GO:0009952)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|organelle organization (GO:0006996)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of receptor-mediated endocytosis (GO:0048260)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|spectrin binding (GO:0030507)			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATAAAGTTATCAATAATAAGC	0.413																																						ENST00000378746.4																			0				endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25						c.(1777-1779)Gat>Cat		kinesin family member 3A							76.0	79.0	78.0					5																	132037805		2203	4300	6503	SO:0001583	missense	11127				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding	g.chr5:132037805C>G	AF041853	CCDS34235.1, CCDS75295.1, CCDS75296.1	5q31	2012-08-01			ENSG00000131437	ENSG00000131437		"""Kinesins"""	6319	protein-coding gene	gene with protein product	"""kinesin family protein 3A"""	604683				1054846	Standard	XM_005271868		Approved	FLA10, KLP-20	uc003kxo.3	Q9Y496	OTTHUMG00000059725	ENST00000378746.4:c.1777G>C	5.37:g.132037805C>G	ENSP00000368020:p.Asp593His					KIF3A_ENST00000487055.1_5'UTR|KIF3A_ENST00000378735.1_Missense_Mutation_p.D596H|AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000403231.1_Missense_Mutation_p.D620H	p.D593H	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		13	1995	-		all_cancers(142;0.0751)|Breast(839;0.198)	593					A8MSW9|Q59EN1|Q86XE9|Q9Y6V4	Missense_Mutation	SNP	ENST00000378746.4	37	c.1777G>C	CCDS34235.1	.	.	.	.	.	.	.	.	.	.	C	33	5.236524	0.95240	.	.	ENSG00000131437	ENST00000378746;ENST00000378735;ENST00000541316;ENST00000403231	T;T;T	0.09723	2.95;2.95;2.95	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.36026	0.0952	M	0.70595	2.14	0.80722	D	1	D;D;P;D	0.76494	0.999;0.999;0.838;0.999	D;D;P;D	0.80764	0.994;0.994;0.541;0.99	T	0.01130	-1.1442	10	0.62326	D	0.03	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	620;620;593;619	E9PES4;B4DHG8;Q9Y496;Q2UVF2	.;.;KIF3A_HUMAN;.	H	593;596;620;620	ENSP00000368020:D593H;ENSP00000368009:D596H;ENSP00000385808:D620H	ENSP00000368009:D596H	D	-	1	0	KIF3A	132065704	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.824000	0.97209	0.655000	0.94253	GAT		0.413	KIF3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132788.3	NM_007054		26	22	0	0	0	0.005443	0	26	22				
KRTAP9-9	81870	broad.mit.edu	37	17	39411940	39411940	+	Silent	SNP	C	C	T	rs368809647		TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr17:39411940C>T	ENST00000394008.1	+	1	305	c.303C>T	c.(301-303)ggC>ggT	p.G101G		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	86	14 X 5 AA repeats of C-C-[RQVGE]- [SPSTNQ]-[TASL].					keratin filament (GO:0045095)				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCAGCTGTGGCCAGAGCAGCT	0.617																																						ENST00000394008.1																			0				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(301-303)ggC>ggT		keratin associated protein 9-9							78.0	83.0	81.0					17																	39411940		2203	4297	6500	SO:0001819	synonymous_variant	81870					keratin filament		g.chr17:39411940C>T	AJ406951	CCDS54127.1	17q21.2	2010-06-03			ENSG00000198083	ENSG00000198083		"""Keratin associated proteins"""	16773	protein-coding gene	gene with protein product			"""keratin associated protein 9-5"""	KRTAP9-5		11279113	Standard	NM_030975		Approved	KAP9.9, KAP9.5	uc021txh.1	Q9BYP9	OTTHUMG00000133602	ENST00000394008.1:c.303C>T	17.37:g.39411940C>T							p.G101G	NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	305	+		Breast(137;0.000496)	101					B5MDD6|Q9BYQ1	Silent	SNP	ENST00000394008.1	37	c.303C>T	CCDS54127.1																																																																																				0.617	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257710.1	NM_030975		6	137	0	0	0	0.001168	0	6	137				
SERBP1	26135	broad.mit.edu	37	1	67895933	67895933	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr1:67895933G>C	ENST00000370995.2	-	1	136	c.51C>G	c.(49-51)ttC>ttG	p.F17L	SERBP1_ENST00000370990.5_Missense_Mutation_p.F17L|SERBP1_ENST00000370994.4_Missense_Mutation_p.F17L|SERBP1_ENST00000361219.6_Missense_Mutation_p.F17L			Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	17					regulation of apoptotic process (GO:0042981)|regulation of mRNA stability (GO:0043488)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						ATAACTGGTCGAATCGGTTGG	0.642																																						ENST00000370994.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						c.(49-51)ttC>ttG		SERPINE1 mRNA binding protein 1							58.0	64.0	62.0					1																	67895933		2192	4284	6476	SO:0001583	missense	26135				regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding	g.chr1:67895933G>C	AF151813	CCDS639.1, CCDS30746.1, CCDS30747.1, CCDS30748.1	1p31	2009-12-17			ENSG00000142864	ENSG00000142864			17860	protein-coding gene	gene with protein product		607378				11001948, 10810093, 18440126, 17698176	Standard	NM_001018067		Approved	PAI-RBP1, DKFZP564M2423, CGI-55, HABP4L, PAIRBP1, CHD3IP	uc001ddv.3	Q8NC51	OTTHUMG00000009372	ENST00000370995.2:c.51C>G	1.37:g.67895933G>C	ENSP00000360034:p.Phe17Leu					SERBP1_ENST00000370990.5_Missense_Mutation_p.F17L|SERBP1_ENST00000361219.6_Missense_Mutation_p.F17L|SERBP1_ENST00000370995.2_Missense_Mutation_p.F17L	p.F17L	NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3	NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3	Q8NC51	PAIRB_HUMAN			1	165	-			17					Q5VU19|Q5VU20|Q5VU22|Q8WUH0|Q96SE2|Q9BTY3|Q9BUM4|Q9Y367|Q9Y4S3	Missense_Mutation	SNP	ENST00000370995.2	37	c.51C>G	CCDS30746.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205589	0.79127	.	.	ENSG00000142864	ENST00000370994;ENST00000370995;ENST00000361219;ENST00000370990	.	.	.	4.04	4.04	0.47022	.	0.000000	0.85682	D	0.000000	T	0.72574	0.3477	M	0.82716	2.605	0.58432	D	0.999999	B;D;D;D	0.67145	0.449;0.995;0.996;0.996	B;D;D;D	0.68765	0.117;0.951;0.928;0.96	T	0.76157	-0.3062	9	0.87932	D	0	-3.7204	10.187	0.43004	0.098:0.0:0.902:0.0	.	80;80;17;17	D3DQ69;D3DQ70;Q8NC51-3;Q8NC51	.;.;.;PAIRB_HUMAN	L	17	.	ENSP00000354591:F17L	F	-	3	2	SERBP1	67668521	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.711000	0.61881	2.540000	0.85666	0.563000	0.77884	TTC		0.642	SERBP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025984.2	NM_001018067		51	42	0	0	0	0.003610	0	51	42				
FAT1	2195	broad.mit.edu	37	4	187517826	187517826	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr4:187517826C>A	ENST00000441802.2	-	25	13077	c.12868G>T	c.(12868-12870)Gag>Tag	p.E4290*	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4290					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGCACAGACTCGGGGTTAAAA	0.557										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(12868-12870)Gag>Tag		FAT atypical cadherin 1							56.0	61.0	59.0					4																	187517826		2093	4225	6318	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187517826C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.12868G>T	4.37:g.187517826C>A	ENSP00000406229:p.Glu4290*	HNSCC(5;0.00058)					p.E4290*	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			25	13077	-			4290						Nonsense_Mutation	SNP	ENST00000441802.2	37	c.12868G>T	CCDS47177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.9|26.9	4.782859|4.782859	0.90282|0.90282	.|.	.|.	ENSG00000083857|ENSG00000083857	ENST00000441802;ENST00000260147|ENST00000512772	.|.	.|.	.|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.046768|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76140	.|0.3946	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74222	.|-0.3735	.|3	0.39692|.	T|.	0.17|.	.|.	19.3116|19.3116	0.94189|0.94189	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	4290;4292|57	.|.	ENSP00000260147:E4292X|.	E|R	-|-	1|2	0|0	FAT1|FAT1	187754820|187754820	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.659000|0.659000	0.38960|0.38960	7.651000|7.651000	0.83577|0.83577	2.808000|2.808000	0.96608|0.96608	0.650000|0.650000	0.86243|0.86243	GAG|CGA		0.557	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		22	12	1	0	8.10497e-08	0.001523	1.3407e-06	22	12				
MIR518D	574489	broad.mit.edu	37	19	54238204	54238204	+	RNA	SNP	G	G	A	rs377181352		TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr19:54238204G>A	ENST00000385014.1	+	0	74				MIR516B1_ENST00000385211.1_RNA|RNU6-980P_ENST00000516925.1_RNA	NR_030211.1				microRNA 518d																		CCTTTGGAGCGTTACGGTTTG	0.453																																						ENST00000385014.1																			0																				88.0	84.0	85.0					19																	54238204		1568	3582	5150			574489							g.chr19:54238204G>A			19q13.42	2011-09-12		2008-12-18	ENSG00000207747	ENSG00000207747		"""ncRNAs / Micro RNAs"""	32121	non-coding RNA	RNA, micro				MIRN518D			Standard	NR_030211		Approved	hsa-mir-518d	uc021vao.1				19.37:g.54238204G>A								NR_030211.1						0	74	+									RNA	SNP	ENST00000385014.1	37																																																																																						0.453	MIR518D-201	KNOWN	basic	miRNA	miRNA		NR_030211		5	55	0	0	0	0.000602	0	5	55				
EGFLAM	133584	broad.mit.edu	37	5	38464067	38464067	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr5:38464067C>G	ENST00000354891.3	+	23	3379	c.3033C>G	c.(3031-3033)atC>atG	p.I1011M	EGFLAM_ENST00000397202.2_Missense_Mutation_p.I369M|EGFLAM_ENST00000514476.1_Missense_Mutation_p.I146M|CTD-2263F21.1_ENST00000510137.1_RNA|EGFLAM_ENST00000506135.1_Missense_Mutation_p.I146M|EGFLAM_ENST00000336740.6_Missense_Mutation_p.I769M|EGFLAM_ENST00000322350.5_Missense_Mutation_p.I1003M|EGFLAM_ENST00000397210.3_Missense_Mutation_p.I146M|CTD-2263F21.1_ENST00000510469.1_RNA	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	1011	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GGAAAAACATCAACACTTGTG	0.527																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(3007-3009)atC>atG		EGF-like, fibronectin type III and laminin G domains							123.0	96.0	105.0					5																	38464067		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38464067C>G	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.3033C>G	5.37:g.38464067C>G	ENSP00000346964:p.Ile1011Met					EGFLAM_ENST00000397210.3_Missense_Mutation_p.I146M|EGFLAM_ENST00000336740.6_Missense_Mutation_p.I769M|EGFLAM_ENST00000514476.1_Missense_Mutation_p.I146M|CTD-2263F21.1_ENST00000510469.1_RNA|EGFLAM_ENST00000506135.1_Missense_Mutation_p.I146M|EGFLAM_ENST00000397202.2_Missense_Mutation_p.I369M|EGFLAM_ENST00000354891.3_Missense_Mutation_p.I1011M	p.I1003M	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			22	3355	+	all_lung(31;0.000385)		1011			Laminin G-like 3.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.3009C>G	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.594476	0.66219	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580;ENST00000397210;ENST00000506135;ENST00000514476	T;T;T;D;T;T;T	0.84516	0.71;0.51;-1.43;-1.86;-0.22;-0.22;-0.22	5.93	5.93	0.95920	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);	0.000000	0.85682	D	0.000000	D	0.91153	0.7214	M	0.77103	2.36	0.54753	D	0.999987	D;D;D;D	0.89917	0.999;1.0;1.0;0.997	D;D;D;D	0.91635	0.952;0.999;0.999;0.984	D	0.91278	0.5049	10	0.87932	D	0	-3.124	9.414	0.38510	0.144:0.7849:0.0:0.071	.	369;769;1011;1003	Q63HQ2-3;Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;.;EGFLA_HUMAN;.	M	1011;1003;769;369;769;146;146;146	ENSP00000346964:I1011M;ENSP00000313084:I1003M;ENSP00000337607:I769M;ENSP00000380385:I369M;ENSP00000380393:I146M;ENSP00000425579:I146M;ENSP00000423228:I146M	ENSP00000313084:I1003M	I	+	3	3	EGFLAM	38499824	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.099000	0.41767	2.826000	0.97356	0.655000	0.94253	ATC		0.527	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		7	94	0	0	0	0.001984	0	7	94				
PHACTR1	221692	broad.mit.edu	37	6	13230292	13230292	+	Silent	SNP	A	A	C			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr6:13230292A>C	ENST00000379350.1	+	9	1387	c.1258A>C	c.(1258-1260)Agg>Cgg	p.R420R	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Silent_p.R420R|PHACTR1_ENST00000457702.2_Silent_p.R275R			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	420					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GAAGGTCTGCAGGAAGGACTC	0.547																																						ENST00000379350.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(1258-1260)Agg>Cgg		phosphatase and actin regulator 1							38.0	38.0	38.0					6																	13230292		1973	4161	6134	SO:0001819	synonymous_variant	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13230292A>C	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.1258A>C	6.37:g.13230292A>C						PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Silent_p.R420R|PHACTR1_ENST00000457702.2_Silent_p.R275R	p.R420R			Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		9	1387	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	420					A8K1V2|Q3MJ93|Q5JSJ2	Silent	SNP	ENST00000379350.1	37	c.1258A>C																																																																																					0.547	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		4	6	0	0	0	0.000248	0	4	6				
IKZF2	22807	broad.mit.edu	37	2	213878609	213878609	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr2:213878609A>C	ENST00000434687.1	-	8	1071	c.762T>G	c.(760-762)aaT>aaG	p.N254K	IKZF2_ENST00000374327.4_Missense_Mutation_p.N109K|IKZF2_ENST00000451136.2_Missense_Mutation_p.N182K|IKZF2_ENST00000374319.4_Missense_Mutation_p.N228K|IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000413091.3_3'UTR|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000342002.2_Missense_Mutation_p.N260K|IKZF2_ENST00000457361.1_Missense_Mutation_p.N254K			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	254					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CCAGAGAAATATTGTTGTCCA	0.393																																						ENST00000457361.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(760-762)aaT>aaG		IKAROS family zinc finger 2 (Helios)							128.0	126.0	127.0					2																	213878609		2203	4300	6503	SO:0001583	missense	22807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:213878609A>C	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.762T>G	2.37:g.213878609A>C	ENSP00000412869:p.Asn254Lys					IKZF2_ENST00000451136.2_Missense_Mutation_p.N182K|IKZF2_ENST00000342002.2_Missense_Mutation_p.N260K|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000374319.4_Missense_Mutation_p.N228K|IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000374327.4_Missense_Mutation_p.N109K|IKZF2_ENST00000434687.1_Missense_Mutation_p.N254K	p.N254K	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)	7	930	-		Esophageal squamous(248;0.0559)|Renal(323;0.218)	254					Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Missense_Mutation	SNP	ENST00000434687.1	37	c.762T>G	CCDS2395.1	.	.	.	.	.	.	.	.	.	.	A	11.59	1.683872	0.29872	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000374327	T;T;T;T;T;T	0.13538	3.31;3.28;3.31;3.34;3.28;2.58	5.4	5.4	0.78164	.	0.064529	0.64402	D	0.000006	T	0.14527	0.0351	L	0.44542	1.39	0.80722	D	1	P;B;B;B;B	0.42518	0.782;0.137;0.007;0.278;0.013	B;B;B;B;B	0.43536	0.423;0.085;0.023;0.057;0.025	T	0.03403	-1.1040	10	0.32370	T	0.25	-4.7058	10.1294	0.42669	0.9248:0.0:0.0752:0.0	.	182;109;228;254;32	C9JCG7;F5H8M1;Q9UKS7-2;Q9UKS7;Q96LD7	.;.;.;IKZF2_HUMAN;.	K	254;260;254;228;182;109	ENSP00000410447:N254K;ENSP00000342876:N260K;ENSP00000412869:N254K;ENSP00000363439:N228K;ENSP00000395203:N182K;ENSP00000363447:N109K	ENSP00000342876:N260K	N	-	3	2	IKZF2	213586854	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.738000	0.47401	2.171000	0.68590	0.459000	0.35465	AAT		0.393	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260		12	61	0	0	0	0.001368	0	12	61				
COL5A3	50509	broad.mit.edu	37	19	10077032	10077032	+	Silent	SNP	C	C	T			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr19:10077032C>T	ENST00000264828.3	-	64	4825	c.4740G>A	c.(4738-4740)gcG>gcA	p.A1580A		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1580	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCTCTCCTCCCGCCGTGAAGT	0.602																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(4738-4740)gcG>gcA		collagen, type V, alpha 3							58.0	48.0	51.0					19																	10077032		2203	4300	6503	SO:0001819	synonymous_variant	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10077032C>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.4740G>A	19.37:g.10077032C>T							p.A1580A	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		64	4825	-			1580			Fibrillar collagen NC1.		Q9NZQ6	Silent	SNP	ENST00000264828.3	37	c.4740G>A	CCDS12222.1																																																																																				0.602	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		19	24	0	0	0	0.001882	0	19	24				
TEX15	56154	broad.mit.edu	37	8	30705568	30705568	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr8:30705568A>T	ENST00000256246.2	-	1	1040	c.966T>A	c.(964-966)gaT>gaA	p.D322E	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	322					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATGCTAGATGATCTAGTTCAT	0.343																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(964-966)gaT>gaA		testis expressed 15							61.0	59.0	60.0					8																	30705568		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30705568A>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.966T>A	8.37:g.30705568A>T	ENSP00000256246:p.Asp322Glu						p.D322E	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	1040	-			322						Missense_Mutation	SNP	ENST00000256246.2	37	c.966T>A	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.180676	0.38511	.	.	ENSG00000133863	ENST00000256246	T	0.10763	2.84	5.33	-2.28	0.06826	.	0.909002	0.09313	N	0.819382	T	0.07773	0.0195	L	0.32530	0.975	0.09310	N	1	P	0.42908	0.793	B	0.40940	0.344	T	0.28459	-1.0043	10	0.87932	D	0	.	3.9716	0.09455	0.482:0.0:0.1497:0.3682	.	322	Q9BXT5	TEX15_HUMAN	E	322	ENSP00000256246:D322E	ENSP00000256246:D322E	D	-	3	2	TEX15	30825110	0.000000	0.05858	0.000000	0.03702	0.268000	0.26511	-0.041000	0.12084	-0.167000	0.10871	-0.503000	0.04515	GAT		0.343	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			13	29	0	0	0	0.003163	0	13	29				
NWD1	284434	broad.mit.edu	37	19	16902349	16902349	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr19:16902349C>G	ENST00000552788.1	+	12	3129	c.3129C>G	c.(3127-3129)atC>atG	p.I1043M	NWD1_ENST00000339803.6_Missense_Mutation_p.I908M|NWD1_ENST00000379808.3_Missense_Mutation_p.I1043M|NWD1_ENST00000524140.2_Missense_Mutation_p.I1043M|NWD1_ENST00000523826.1_Missense_Mutation_p.I837M|NWD1_ENST00000549814.1_Missense_Mutation_p.I1043M			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1043							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGTCCAGCATCAAAGAAGAAA	0.517																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(3127-3129)atC>atG		NACHT and WD repeat domain containing 1							119.0	94.0	103.0					19																	16902349		2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16902349C>G	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3129C>G	19.37:g.16902349C>G	ENSP00000447224:p.Ile1043Met					NWD1_ENST00000552788.1_Missense_Mutation_p.I1043M|NWD1_ENST00000549814.1_Missense_Mutation_p.I1043M|NWD1_ENST00000379808.3_Missense_Mutation_p.I1043M|NWD1_ENST00000523826.1_Missense_Mutation_p.I837M|NWD1_ENST00000339803.6_Missense_Mutation_p.I908M	p.I1043M	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			14	3547	+			1043					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.3129C>G		.	.	.	.	.	.	.	.	.	.	C	6.711	0.499854	0.12762	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.57436	1.56;0.4;1.56;3.55;3.55;3.55	5.34	0.408	0.16377	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.971401	0.08498	N	0.936868	T	0.29093	0.0723	N	0.14661	0.345	0.09310	N	1	B;B;B	0.33448	0.412;0.003;0.004	B;B;B	0.29267	0.1;0.006;0.007	T	0.20739	-1.0266	10	0.45353	T	0.12	-9.2447	3.2181	0.06706	0.1588:0.3977:0.3454:0.0981	.	1043;1043;908	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	M	908;1043;1043;1043;837;1043;908	ENSP00000428579:I1043M;ENSP00000447548:I1043M;ENSP00000369136:I1043M;ENSP00000428955:I837M;ENSP00000447224:I1043M;ENSP00000340159:I908M	ENSP00000340159:I908M	I	+	3	3	NWD1	16763349	0.033000	0.19621	0.003000	0.11579	0.005000	0.04900	0.040000	0.13905	0.587000	0.29643	0.655000	0.94253	ATC		0.517	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		34	69	0	0	0	0.002445	0	34	69				
AKT2	208	broad.mit.edu	37	19	40740869	40740869	+	Intron	SNP	C	C	A			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr19:40740869C>A	ENST00000392038.2	-	13	1665				AKT2_ENST00000424901.1_Intron|AKT2_ENST00000311278.6_Intron|AKT2_ENST00000579047.1_Missense_Mutation_p.E421D	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2						activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			TTCGAGGGCCCTCCTTGAGAA	0.632			A		"""ovarian, pancreatic """																																	ENST00000579047.1				Dom	yes		19	19q13.1-q13.2	208	A	v-akt murine thymoma viral oncogene homolog 2			E			"""ovarian, pancreatic """		0				breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27						c.(1261-1263)gaG>gaT		v-akt murine thymoma viral oncogene homolog 2																																				SO:0001627	intron_variant	208				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr19:40740869C>A	M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.1366+82G>T	19.37:g.40740869C>A						AKT2_ENST00000311278.6_Intron|AKT2_ENST00000424901.1_Intron|AKT2_ENST00000392038.2_Intron	p.E421D			P31751	AKT2_HUMAN	Lung(22;0.000499)		12	1564	-			113			AGC-kinase C-terminal.		B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Missense_Mutation	SNP	ENST00000392038.2	37	c.1263G>T	CCDS12552.1																																																																																				0.632	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268029.1	NM_001626		7	17	1	0	2.7689e-08	0.001984	4.67767e-07	7	17				
RAD54L	8438	broad.mit.edu	37	1	46726555	46726556	+	Frame_Shift_Ins	INS	-	-	AC			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr1:46726555_46726556insAC	ENST00000371975.4	+	7	1308_1309	c.634_635insAC	c.(634-636)gacfs	p.D212fs	RAD54L_ENST00000442598.1_Frame_Shift_Ins_p.D212fs|RAD54L_ENST00000473251.1_3'UTR	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	212	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		GCCAGAAATTGACAAGGCAGTG	0.535								Direct reversal of damage;Homologous recombination																														ENST00000371975.4																			0				breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25						c.(634-636)caafs	Direct reversal of damage;Homologous recombination	RAD54-like (S. cerevisiae)																																				SO:0001589	frameshift_variant	8438				meiosis	nucleus	ATP binding|DNA binding|helicase activity	g.chr1:46726555_46726556insAC	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.635_636dupAC	1.37:g.46726556_46726557dupAC	ENSP00000361043:p.Asp212fs					RAD54L_ENST00000442598.1_Frame_Shift_Ins_p.Q212fs	p.Q212fs	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	7	1308_1309	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	212			Helicase ATP-binding.		Q5TE31|Q6IUY3	Frame_Shift_Ins	INS	ENST00000371975.4	37	c.634_635insAC	CCDS532.1																																																																																				0.535	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		30	68						30	68	---	---	---	---
TPRXL	348825	broad.mit.edu	37	3	13978444	13978445	+	5'Flank	INS	-	-	A	rs11301897	byFrequency	TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr3:13978444_13978445insA	ENST00000326972.8	+	0	0				FGD5P1_ENST00000502451.1_RNA			Q17RH7	TPRXL_HUMAN	tetra-peptide repeat homeobox-like											endometrium(1)	1						gactccatctcaaaaaaaaaag	0.505																																						ENST00000502451.1																			0																																																	SO:0001631	upstream_gene_variant	100132526							g.chr3:13978444_13978445insA	AK092426		3p25.1	2011-06-20			ENSG00000180438	ENSG00000180438		"""Homeoboxes / PRD class"""	32178	pseudogene	pseudogene		611167					Standard	NR_002223		Approved	FLJ35107	uc003byg.3	Q17RH7	OTTHUMG00000155509		3.37:g.13978454_13978454dupA	Exception_encountered							NR_036481.1						0	3377	+								Q8NAM5	RNA	INS	ENST00000326972.8	37																																																																																						0.505	TPRXL-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000340434.2	NR_002223		2	4						2	4	---	---	---	---
TMEM41A	90407	broad.mit.edu	37	3	185212517	185212518	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr3:185212517_185212518insA	ENST00000421852.1	-	4	562_563	c.467_468insT	c.(466-468)ttcfs	p.F156fs	TMEM41A_ENST00000296254.3_Intron|TMEM41A_ENST00000475480.1_5'UTR	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A	156						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAAACAATAAGAAAAAAAACAA	0.446																																						ENST00000421852.1																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(466-468)tttfs		transmembrane protein 41A				0,4266		0,0,2133						1.0	0.8			116	1,8253		0,1,4126	no	frameshift	TMEM41A	NM_080652.3		0,1,6259	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12519				SO:0001589	frameshift_variant	90407					integral to membrane		g.chr3:185212517_185212518insA	BC019884	CCDS3271.1	3q27.2	2006-04-12			ENSG00000163900	ENSG00000163900			30544	protein-coding gene	gene with protein product						12975309	Standard	NM_080652		Approved	MGC15397	uc003fpj.2	Q96HV5	OTTHUMG00000156660	ENST00000421852.1:c.468dupT	3.37:g.185212525_185212525dupA	ENSP00000406885:p.Phe156fs					TMEM41A_ENST00000475480.1_5'UTR|TMEM41A_ENST00000296254.3_Intron	p.F156fs	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		4	562_563	-	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		156					A8K4B3|D3DNU2|Q6ZMJ0	Frame_Shift_Ins	INS	ENST00000421852.1	37	c.467_468insT	CCDS3271.1																																																																																				0.446	TMEM41A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345174.1	NM_080652		7	671						7	671	---	---	---	---
ANKH	56172	broad.mit.edu	37	5	14716943	14716944	+	Splice_Site	INS	-	-	G			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr5:14716943_14716944insG	ENST00000284268.6	-	9	1342_1343	c.1012_1013insC	c.(1012-1014)ctc>cCtc	p.L338fs	ANKH_ENST00000535119.1_Splice_Site_p.L140fs	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	338					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CACGAAACAGAGCTGGGGAGAA	0.455																																						ENST00000284268.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.e9-1		ANKH inorganic pyrophosphate transport regulator																																				SO:0001630	splice_region_variant	56172				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	g.chr5:14716943_14716944insG	AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"""ankylosis, progressive (mouse) homolog"", ""craniometaphyseal dysplasia, Jackson type (dominant)"", ""ankylosis, progressive homolog (mouse)"""	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.1012-1->C	5.37:g.14716944_14716944dupG						ANKH_ENST00000535119.1_Splice_Site_p.L140_splice	p.L338_splice	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN			9	1342_1343	-			338					B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Splice_Site	INS	ENST00000284268.6	37	c.1011_splice	CCDS3885.1																																																																																				0.455	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	NM_054027	Frame_Shift_Ins	17	23						17	23	---	---	---	---
DOPEY1	23033	broad.mit.edu	37	6	83866921	83866941	+	In_Frame_Del	DEL	CGTTTGCCACAGGTGCCAACT	CGTTTGCCACAGGTGCCAACT	-			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr6:83866921_83866941delCGTTTGCCACAGGTGCCAACT	ENST00000349129.2	+	35	6885_6905	c.6625_6645delCGTTTGCCACAGGTGCCAACT	c.(6625-6645)cgtttgccacaggtgccaactdel	p.RLPQVPT2209del	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Intron|DOPEY1_ENST00000369739.3_In_Frame_Del_p.RLPQVPT2200del	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2209					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TGAGAGTCTCCGTTTGCCACAGGTGCCAACTCTCCATTCTC	0.389																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(6625-6645)del		dopey family member 1																																				SO:0001651	inframe_deletion	23033				protein transport			g.chr6:83866921_83866941delCGTTTGCCACAGGTGCCAACT	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.6625_6645delCGTTTGCCACAGGTGCCAACT	6.37:g.83866921_83866941delCGTTTGCCACAGGTGCCAACT	ENSP00000195654:p.Arg2209_Thr2215del					DOPEY1_ENST00000369739.3_In_Frame_Del_p.RLPQVPT2200del|DOPEY1_ENST00000237163.5_Intron|DOPEY1_ENST00000484282.1_3'UTR	p.RLPQVPT2209del	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	35	6885_6905	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	2209					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	In_Frame_Del	DEL	ENST00000349129.2	37	c.6625_6645delCGTTTGCCACAGGTGCCAACT	CCDS4996.1																																																																																				0.389	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		9	70						9	70	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578471	7578478	+	Frame_Shift_Del	DEL	GGGCGGGG	GGGCGGGG	-	rs587782705|rs137852790|rs137852791|rs72661116		TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chr17:7578471_7578478delGGGCGGGG	ENST00000269305.4	-	5	641_648	c.452_459delCCCCGCCC	c.(451-459)cccccgcccfs	p.PPP151fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Frame_Shift_Del_p.PPP151fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.PPP151fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.PPP151fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.PPP151fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.PPP151fs	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	151	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874). {ECO:0000269|PubMed:7682763}.|P -> T (in LFS; germline mutation and 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.P152L(66)|p.P151H(31)|p.P152S(22)|p.P151P(12)|p.P153fs*28(11)|p.P151R(9)|p.P152R(8)|p.P153S(8)|p.0?(8)|p.P152T(7)|p.P151L(7)|p.P152fs*18(7)|p.P153P(7)|p.T150fs*16(6)|p.P153L(6)|p.P152fs*29(5)|p.P152P(5)|p.?(5)|p.P152fs*14(5)|p.P152Q(4)|p.P153T(3)|p.G154fs*27(3)|p.P59L(2)|p.G154fs*16(2)|p.P58H(2)|p.P152fs*28(2)|p.P20L(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.P152A(2)|p.P19H(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.T150_P153delTPPP(1)|p.P58R(1)|p.P151del(1)|p.P152fs*27(1)|p.P20R(1)|p.P59R(1)|p.P151fs*30(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.P153fs*20(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.P19R(1)|p.P152_P153insXXX(1)|p.Q144fs*16(1)|p.P153_G154insX(1)|p.P153F(1)|p.T18fs*16(1)|p.P153A(1)|p.T150_P151delTP(1)|p.P153H(1)|p.P152_P153del(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)	CGCGGGTGCCGGGCGGGGGTGTGGAATC	0.606		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"""		290	Substitution - Missense(188)|Deletion - Frameshift(34)|Substitution - coding silent(24)|Insertion - Frameshift(21)|Deletion - In frame(8)|Whole gene deletion(8)|Unknown(5)|Insertion - In frame(2)	p.P152L(66)|p.P151H(31)|p.P152S(22)|p.P151P(12)|p.P153fs*28(11)|p.P151R(9)|p.P152R(8)|p.P153S(8)|p.0?(8)|p.P152T(7)|p.P151L(7)|p.P152fs*18(7)|p.P153P(7)|p.T150fs*16(6)|p.P153L(6)|p.P152fs*29(5)|p.P152P(5)|p.?(5)|p.P152fs*14(5)|p.P152Q(4)|p.P153T(3)|p.G154fs*27(3)|p.P59L(2)|p.G154fs*16(2)|p.P58H(2)|p.P152fs*28(2)|p.P20L(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.P152A(2)|p.P19H(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.T150_P153delTPPP(1)|p.P58R(1)|p.P151del(1)|p.P152fs*27(1)|p.P20R(1)|p.P59R(1)|p.P151fs*30(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.P153fs*20(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.P19R(1)|p.P152_P153insXXX(1)|p.Q144fs*16(1)|p.P153_G154insX(1)|p.P153F(1)|p.T18fs*16(1)|p.P153A(1)|p.T150_P151delTP(1)|p.P153H(1)|p.P152_P153del(1)	large_intestine(50)|lung(30)|upper_aerodigestive_tract(25)|central_nervous_system(24)|skin(23)|oesophagus(21)|haematopoietic_and_lymphoid_tissue(20)|urinary_tract(18)|stomach(15)|breast(15)|ovary(12)|prostate(11)|bone(5)|liver(5)|soft_tissue(4)|vulva(3)|thyroid(2)|adrenal_gland(2)|endometrium(1)|eye(1)|biliary_tract(1)|pancreas(1)|small_intestine(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	CI920955|CM941327	TP53	I|M		c.(451-459)cfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578471_7578478delGGGCGGGG	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.452_459delCCCCGCCC	17.37:g.7578471_7578478delGGGCGGGG	ENSP00000269305:p.Pro151fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Frame_Shift_Del_p.PPP151fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.PPP151fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.PPP151fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.PPP151fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.PPP151fs	p.PPP151fs	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)	5	584_591	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	151		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.452_459delCCCCGCCC	CCDS11118.1																																																																																				0.606	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		23	30						23	30	---	---	---	---
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	7c493e26-33c4-495d-ad0c-a9fb423124fa	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	55190					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			4	2						4	2	---	---	---	---
MED15P9	285103	broad.mit.edu	37	2	130893080	130893081	+	RNA	INS	-	-	A			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr2:130893080_130893081insA	ENST00000427638.1	+	0	541_542					NR_033903.1				mediator complex subunit 15 pseudogene 9																		gactccatctcaaaaaaaaaaa	0.564																																						ENST00000427638.1																			0																																																			285103							g.chr2:130893080_130893081insA	BC036597		2q21.1	2014-05-06	2013-08-13	2013-08-13	ENSG00000223760	ENSG00000223760			44130	pseudogene	pseudogene			"""CCDC74B antisense RNA 1 (non-protein coding)"", ""CCDC74B antisense RNA 1"""	CCDC74B-AS1			Standard	NR_033903		Approved		uc021voa.1				2.37:g.130893091_130893091dupA								NR_033903.1						0	541_542	+									RNA	INS	ENST00000427638.1	37																																																																																						0.564	MED15P9-002	KNOWN	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000470767.1	NR_033903		3	5						3	5	---	---	---	---
TPRXL	348825	broad.mit.edu	37	3	13978444	13978445	+	5'Flank	INS	-	-	A	rs11301897	byFrequency	TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr3:13978444_13978445insA	ENST00000326972.8	+	0	0				FGD5P1_ENST00000502451.1_RNA			Q17RH7	TPRXL_HUMAN	tetra-peptide repeat homeobox-like											endometrium(1)	1						gactccatctcaaaaaaaaaag	0.505																																						ENST00000502451.1																			0																																																	SO:0001631	upstream_gene_variant	100132526							g.chr3:13978444_13978445insA	AK092426		3p25.1	2011-06-20			ENSG00000180438	ENSG00000180438		"""Homeoboxes / PRD class"""	32178	pseudogene	pseudogene		611167					Standard	NR_002223		Approved	FLJ35107	uc003byg.3	Q17RH7	OTTHUMG00000155509		3.37:g.13978454_13978454dupA	Exception_encountered							NR_036481.1						0	3377	+								Q8NAM5	RNA	INS	ENST00000326972.8	37																																																																																						0.505	TPRXL-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000340434.2	NR_002223		2	4						2	4	---	---	---	---
B3GNT5	84002	broad.mit.edu	37	3	182987673	182987674	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7103-01A-21D-2012-08	TCGA-CV-7103-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e04f3556-ae16-410d-bc03-1057ae308329	781ad94b-11bb-408a-879a-5ce9defc3d2a	g.chr3:182987673_182987674insT	ENST00000326505.3	+	2	617_618	c.87_88insT	c.(88-90)tttfs	p.F30fs	B3GNT5_ENST00000460419.1_Frame_Shift_Ins_p.F30fs|MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000465010.1_Frame_Shift_Ins_p.F30fs|MCF2L2_ENST00000328913.3_Intron	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	30					cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycolipid biosynthetic process (GO:0009247)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity (GO:0008457)|galactosyltransferase activity (GO:0008378)|lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase activity (GO:0047256)|lipopolysaccharide N-acetylglucosaminyltransferase activity (GO:0008917)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CGAGCCTCATGTTTTTTTGGGA	0.356																																						ENST00000326505.3																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8						c.(85-90)atttttfs		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5																																				SO:0001589	frameshift_variant	84002				central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:182987673_182987674insT	AB045278	CCDS3244.1	3q28	2013-02-21			ENSG00000176597	ENSG00000176597	2.4.1.206	"""Beta 3-glycosyltransferases"""	15684	protein-coding gene	gene with protein product	"""lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase"""	615333				11283017	Standard	XM_005247824		Approved	B3GN-T5, beta3Gn-T5	uc003flk.3	Q9BYG0	OTTHUMG00000158436	ENST00000326505.3:c.94dupT	3.37:g.182987680_182987680dupT	ENSP00000316173:p.Phe30fs					B3GNT5_ENST00000465010.1_Frame_Shift_Ins_p.IF29fs|MCF2L2_ENST00000447025.2_Intron|B3GNT5_ENST00000460419.1_Frame_Shift_Ins_p.IF29fs|MCF2L2_ENST00000328913.3_Intron|MCF2L2_ENST00000473233.1_Intron	p.IF29fs	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		2	617_618	+	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		29					D3DNS5|Q59FE3|Q7L9Z5|Q8WWP9	Frame_Shift_Ins	INS	ENST00000326505.3	37	c.87_88insT	CCDS3244.1																																																																																				0.356	B3GNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351009.1	NM_032047		7	824						7	824	---	---	---	---
