#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_IsAdjacentToRepeatRegion	i_IsMicroSat	i_MUTSIG_Published_Results	i_Mutation_Status	i_NumberOfSatRepeats	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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_is_in_m2pon	i_refseq_mrna_id	i_secondary_variant_classification	i_site
LOC100288069	100288069	broad.mit.edu	37	1	700594	700596	+	lincRNA	DEL	ATC	ATC	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	ATC	ATC	-	-	ATC	ATC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:700594_700596delATC	ENST00000428504.1	-	0	957_959				RP11-206L10.5_ENST00000417659.1_lincRNA	NR_033908.1																						AGGGTATGGGATCATCACCGGAC	0.325																																						ENST00000428504.1		NA																	0					NA																																														0							g.chr1:700594_700596delATC																													1.37:g.700597_700599delATC		False	False		Somatic	2						NR_033908.1		WXS	Illumina HiSeq	Phase_I					0	957_959	-			NA						RNA	DEL	ENST00000428504.1	37																																																																																						0.325	RP11-206L10.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000006889.1	0			1:700594
TYRO3	7301	broad.mit.edu	37	15	41862897	41862898	+	Splice_Site	INS	-	-	GAGA			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr15:41862897_41862898insGAGA	ENST00000263798.3	+	12	1803	c.1579_1579insGAGA	c.(1579-1581)gga>GAGAgga	p.G527fs	TYRO3_ENST00000559066.1_Splice_Site_p.G482fs	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	527	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GTTGGGCAAAGGTATGTGAGGC	0.559																																						ENST00000263798.3		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43						c.(1579-1581)gga>GAGAgga		TYRO3 protein tyrosine kinase																																				SO:0001630	splice_region_variant	7301					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr15:41862897_41862898insGAGA	D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.1579+1->GAGA	15.37:g.41862897_41862898insGAGA		False	False		Somatic	0				TYRO3_ENST00000559066.1_Splice_Site_p.G482fs	p.G527fs	NM_006293.3	NP_006284.2	WXS	Illumina HiSeq	Phase_I	Q06418	TYRO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)	12	1803	+		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)	527			Protein kinase.		O14953|Q86VR3	Splice_Site	INS	ENST00000263798.3	37	c.1579_1579insGAGA	CCDS10080.1																																																																																				0.559	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2	0		Frame_Shift_Ins	15:41862897
ZC3H7A	29066	broad.mit.edu	37	16	11862341	11862342	+	Frame_Shift_Ins	INS	-	-	ACGCAGAGAGTAT			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr16:11862341_11862342insACGCAGAGAGTAT	ENST00000396516.2	-	11	1386_1387	c.1189_1190insATACTCTCTGCGT	c.(1189-1191)agtfs	p.S397fs	ZC3H7A_ENST00000355758.4_Frame_Shift_Ins_p.S397fs			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	397						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						AGCAAACAAACTACCTGGTCCA	0.347																																						ENST00000396516.2		NA																	0				breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						c.(1189-1191)agtfs		zinc finger CCCH-type containing 7A																																				SO:0001589	frameshift_variant	29066					nucleus	nucleic acid binding|zinc ion binding	g.chr16:11862341_11862342insACGCAGAGAGTAT	AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30959	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 7"", ""zinc finger CCCH-type containing 7"""	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.1189_1190insATACTCTCTGCGT	16.37:g.11862341_11862342insACGCAGAGAGTAT	ENSP00000379773:p.Ser397fs	True	False		Somatic	0				ZC3H7A_ENST00000355758.4_Frame_Shift_Ins_p.S397fs	p.S397fs			WXS	Illumina HiSeq	Phase_I	Q8IWR0	Z3H7A_HUMAN			11	1386_1387	-			397					D3DUG5|Q9NPE9	Frame_Shift_Ins	INS	ENST00000396516.2	37	c.1189_1190insATACTCTCTGCGT	CCDS10550.1																																																																																				0.347	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437066.1	0	NM_014153		16:11862341
TP53	7157	broad.mit.edu	37	17	7578373	7578373	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr17:7578373delT	ENST00000269305.4	-	5	746	c.557delA	c.(556-558)gatfs	p.D186fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.D186fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Frame_Shift_Del_p.D186fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.D186fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.D186fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.D186fs	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	186	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		D -> E (in a sporadic cancer; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in a sporadic cancer; 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.0?(8)|p.?(2)|p.V173fs*59(2)|p.D186_P191delDGLAPP(1)|p.D186V(1)|p.D186G(1)|p.S185_D186delSD(1)|p.D186fs*22(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)	CTGCTCACCATCGCTATCTGA	0.642		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"""		17	Whole gene deletion(8)|Deletion - Frameshift(3)|Substitution - Missense(2)|Deletion - In frame(2)|Unknown(2)	p.0?(8)|p.?(2)|p.V173fs*59(2)|p.D186_P191delDGLAPP(1)|p.D186V(1)|p.D186G(1)|p.S185_D186delSD(1)|p.D186fs*22(1)	bone(4)|central_nervous_system(3)|oesophagus(3)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|liver(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						c.(556-558)gatfs	Other conserved DNA damage response genes	tumor protein p53							48.0	46.0	47.0					17																	7578373		2203	4300	6503	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.chr17:7578373delT	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.557delA	17.37:g.7578373delT	ENSP00000269305:p.Asp186fs	False	False	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)	Somatic	1				TP53_ENST00000455263.2_Frame_Shift_Del_p.D186fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.D186fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Frame_Shift_Del_p.D186fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.D186fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.D186fs	p.D186fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina HiSeq	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	689	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	186		D -> E (in a sporadic cancer; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in a sporadic cancer; 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.557delA	CCDS11118.1																																																																																				0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7578373
RTTN	25914	broad.mit.edu	37	18	67721502	67721503	+	Frame_Shift_Ins	INS	-	-	AGCTTAATTGTTTTAGTTTAGAATG			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr18:67721502_67721503insAGCTTAATTGTTTTAGTTTAGAATG	ENST00000255674.6	-	38	5335_5336	c.5049_5050insCATTCTAAACTAAAACAATTAAGCT	c.(5047-5052)gaatacfs	p.Y1684fs	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1684					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GAGGATAGGTATTCCAGGAGAA	0.406																																						ENST00000255674.6		NA																	0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(5047-5052)gaatacfs		rotatin																																				SO:0001589	frameshift_variant	25914						binding	g.chr18:67721502_67721503insAGCTTAATTGTTTTAGTTTAGAATG	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.5049_5050insCATTCTAAACTAAAACAATTAAGCT	18.37:g.67721502_67721503insAGCTTAATTGTTTTAGTTTAGAATG	ENSP00000255674:p.Tyr1684fs	False	False		Somatic	0				RTTN_ENST00000454359.1_3'UTR	p.Y1684fs	NM_173630.3	NP_775901.3	WXS	Illumina HiSeq	Phase_I	Q86VV8	RTTN_HUMAN			38	5335_5336	-		Esophageal squamous(42;0.129)	1684					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Frame_Shift_Ins	INS	ENST00000255674.6	37	c.5049_5050insCATTCTAAACTAAAACAATTAAGCT	CCDS42443.1																																																																																				0.406	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	0	NM_173630		18:67721502
GGT2	728441	broad.mit.edu	37	22	21563155	21563156	+	In_Frame_Ins	INS	-	-	AGA	rs200276704	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr22:21563155_21563156insAGA	ENST00000401924.1	-	13	1857_1858	c.1366_1367insTCT	c.(1366-1368)acg>aTCTcg	p.456_456T>IS	GGT2_ENST00000405188.4_In_Frame_Ins_p.446_446T>IS|GGT2_ENST00000424627.1_In_Frame_Ins_p.456_456T>IS			P36268	GGT2_HUMAN	gamma-glutamyltransferase 2	456					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	anchored component of external side of plasma membrane (GO:0031362)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)										CACCATGATCGTCAGGCACATG	0.649																																						ENST00000401924.1		NA																	0					NA						c.(1366-1368)acg>aTCTcg		gamma-glutamyltransferase 2																																				SO:0001652	inframe_insertion	728441							g.chr22:21563155_21563156insAGA	M30474		22q11.21	2012-04-19			ENSG00000133475	ENSG00000133475	2.3.2.2	"""Gamma-glutamyltransferases"""	4251	protein-coding gene	gene with protein product		137181		GGT		8104871, 18357469	Standard	XM_006724392		Approved		uc011aic.1	P36268	OTTHUMG00000150617	ENST00000401924.1:c.1366_1367insTCT	22.37:g.21563155_21563156insAGA	ENSP00000385721:p.Thr456delinsIleSer	False	False		Somatic	0				GGT2_ENST00000424627.1_In_Frame_Ins_p.456_456T>IS|GGT2_ENST00000405188.4_In_Frame_Ins_p.446_446T>IS	p.456_456T>IS			WXS	Illumina HiSeq	Phase_I					13	1857_1858	-			NA						In_Frame_Ins	INS	ENST00000401924.1	37	c.1366_1367insTCT																																																																																					0.649	GGT2-002	KNOWN	non_canonical_other|not_best_in_genome_evidence|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000320092.2	0	XM_001129377		22:21563155
KDM6A	7403	broad.mit.edu	37	X	44929370	44929371	+	Frame_Shift_Ins	INS	-	-	C			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chrX:44929370_44929371insC	ENST00000377967.4	+	17	2511_2512	c.2470_2471insC	c.(2470-2472)tcafs	p.S824fs	KDM6A_ENST00000543216.1_Frame_Shift_Ins_p.S745fs|KDM6A_ENST00000382899.4_Frame_Shift_Ins_p.S831fs|KDM6A_ENST00000536777.1_Frame_Shift_Ins_p.S779fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	824	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TTCAGCCATTTCAACAGCAACA	0.45			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4		NA		Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		6	Whole gene deletion(6)	p.0?(6)	oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(2470-2472)tcafs		lysine (K)-specific demethylase 6A																																				SO:0001589	frameshift_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44929370_44929371insC	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.2471dupC	X.37:g.44929371_44929371dupC	ENSP00000367203:p.Ser824fs	True	False		Somatic	1				KDM6A_ENST00000382899.4_Frame_Shift_Ins_p.S831fs|KDM6A_ENST00000536777.1_Frame_Shift_Ins_p.S779fs|KDM6A_ENST00000543216.1_Frame_Shift_Ins_p.S745fs	p.S824fs	NM_021140.2	NP_066963.2	WXS	Illumina HiSeq	Phase_I	O15550	KDM6A_HUMAN			17	2511_2512	+			824					Q52LL9|Q5JVQ7	Frame_Shift_Ins	INS	ENST00000377967.4	37	c.2470_2471insC	CCDS14265.1																																																																																				0.450	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	0	NM_021140		X:44929370
XPO1	7514	broad.mit.edu	37	2	61715751	61715752	+	Frame_Shift_Ins	INS	-	-	AAAACAGTTAAGTG			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:61715751_61715752insAAAACAGTTAAGTG	ENST00000401558.2	-	18	2904_2905	c.2177_2178insCACTTAACTGTTTT	c.(2176-2178)gaafs	p.E726fs	XPO1_ENST00000406957.1_Frame_Shift_Ins_p.E726fs|XPO1_ENST00000404992.2_Frame_Shift_Ins_p.E726fs	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	726					gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			CAGAAATATTTTCACTGAGGCA	0.366			Mis		CLL																																	ENST00000401558.2		NA	-'	Dom	yes		2	2p15	7514	Mis	"""exportin 1 (CRM1 homolog, yeast)"""			L			CLL		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(2176-2178)gaafs		exportin 1 (CRM1 homolog, yeast)																																				SO:0001589	frameshift_variant	7514				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding	g.chr2:61715751_61715752insAAAACAGTTAAGTG	Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.2177_2178insCACTTAACTGTTTT	2.37:g.61715751_61715752insAAAACAGTTAAGTG	ENSP00000384863:p.Glu726fs	True	False		Somatic	0				XPO1_ENST00000406957.1_Frame_Shift_Ins_p.E726fs|XPO1_ENST00000404992.2_Frame_Shift_Ins_p.E726fs	p.E726fs	NM_003400.3	NP_003391.1	WXS	Illumina HiSeq	Phase_I	O14980	XPO1_HUMAN	LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)		18	2904_2905	-			726					A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Frame_Shift_Ins	INS	ENST00000401558.2	37	c.2177_2178insCACTTAACTGTTTT	CCDS33205.1																																																																																				0.366	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3	0	NM_003400		2:61715751
EN1	2019	broad.mit.edu	37	2	119604041	119604042	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:119604041_119604042insCT	ENST00000295206.6	-	1	1212_1213	c.702_703insAG	c.(700-705)agccccfs	p.P235fs	EN1_ENST00000546667.1_5'Flank	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	235					anatomical structure morphogenesis (GO:0009653)|dorsal/ventral pattern formation (GO:0009953)|embryonic forelimb morphogenesis (GO:0035115)|hindbrain development (GO:0030902)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|multicellular organism growth (GO:0035264)|neuron development (GO:0048666)|pigmentation (GO:0043473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|response to cocaine (GO:0042220)|skeletal system development (GO:0001501)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						TGCGCTCCGGGGCTCCCCGCGC	0.752																																						ENST00000295206.6		NA																	0				endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						c.(700-705)agccccfs		engrailed homeobox 1																																				SO:0001589	frameshift_variant	2019				skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:119604041_119604042insCT	L12699	CCDS2123.1	2q14.2	2011-06-20	2007-02-15		ENSG00000163064	ENSG00000163064		"""Homeoboxes / ANTP class : NKL subclass"""	3342	protein-coding gene	gene with protein product		131290				8094370	Standard	NM_001426		Approved		uc002tlm.3	Q05925	OTTHUMG00000131401	ENST00000295206.6:c.702_703insAG	2.37:g.119604041_119604042insCT	ENSP00000295206:p.Pro235fs	True	False		Somatic	0					p.P235fs	NM_001426.3	NP_001417.3	WXS	Illumina HiSeq	Phase_I	Q05925	HME1_HUMAN			1	1212_1213	-			235					Q4ZG44	Frame_Shift_Ins	INS	ENST00000295206.6	37	c.702_703insAG	CCDS2123.1																																																																																				0.752	EN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254191.3	0			2:119604041
C1QB	713	broad.mit.edu	37	1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	rs544508692|rs148813212		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000314933.6	+	3	400_453	c.268_321delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(268-321)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP90del	C1QB_ENST00000509305.1_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP88del	NM_000491.3	NP_000482.3	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|inner ear development (GO:0048839)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618																																						ENST00000509305.1		NA																	0				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14						c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel		complement component 1, q subcomponent, B chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)																																			SO:0001651	inframe_deletion	713				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	X03084	CCDS228.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173369	ENSG00000173369		"""Complement system"""	1242	protein-coding gene	gene with protein product		120570	"""complement component 1, q subcomponent, beta polypeptide"""			1537612	Standard	XM_005245982		Approved		uc001bgd.3	P02746	OTTHUMG00000002896	ENST00000314933.6:c.268_321delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	1.37:g.22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENSP00000313967:p.Gly90_Pro107del	True	False		Somatic	1				C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del	p.GPKGPMGPKGGPGAPGAP88del			WXS	Illumina HiSeq	Phase_I	P02746	C1QB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	3	608_661	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	90			Collagen-like 2.		Q5T959|Q96H17	In_Frame_Del	DEL	ENST00000314933.6	37	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	CCDS228.1																																																																																				0.618	C1QB-201	KNOWN	basic|CCDS	protein_coding	protein_coding		0	NM_000491		1:22987385
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs376362448|rs2622736	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394																																						ENST00000260803.4		NA																	0				NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(1621-1626)gacgat>gat		debranching RNA lariats 1																																				SO:0001651	inframe_deletion	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137880741_137880743delTCG	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.1623_1625delCGA	3.37:g.137880741_137880743delTCG	ENSP00000260803:p.Asp542del	False	False		Somatic	1				DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	p.541_542DD>D	NM_016216.3	NP_057300.2	WXS	Illumina HiSeq	Phase_I	Q9UK59	DBR1_HUMAN			8	1776_1778	-			541					Q96GH0|Q9NXQ6	In_Frame_Del	DEL	ENST00000260803.4	37	c.1623_1625delCGA	CCDS33863.1																																																																																				0.394	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1	0			3:137880741
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	rs200621350|rs201864465		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534																																						ENST00000396137.4		NA																	0				endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16						c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca		junction mediating and regulatory protein, p53 cofactor																																				SO:0001651	inframe_deletion	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	5.37:g.78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENSP00000379441:p.Pro811_Pro822del	False	False		Somatic	1				JMY_ENST00000412001.1_Intron	p.PPPPPPPPPPPP811del	NM_152405.4	NP_689618.4	WXS	Illumina HiSeq	Phase_I	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	9	2891_2926	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	811			Pro-rich.		A1L4P5|B5MDS2|B5MDT0	In_Frame_Del	DEL	ENST00000396137.4	37	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CCDS4047.3																																																																																				0.534	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	0	NM_152405		5:78610444
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212|rs368069269	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433																																						ENST00000379834.2		NA																	1	Substitution - Missense(1)	p.D57G(1)	large_intestine(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(190-192)gacdel		RIO kinase 1																																				SO:0001651	inframe_deletion	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7393450_7393452delGAC	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.190_192delGAC	6.37:g.7393450_7393452delGAC	ENSP00000369162:p.Asp69del	False	False		Somatic	1					p.D69del	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	WXS	Illumina HiSeq	Phase_I	Q9BRS2	RIOK1_HUMAN			2	697_699	+	Ovarian(93;0.0418)		69					B2RB28|Q8NDC8|Q96NV9	In_Frame_Del	DEL	ENST00000379834.2	37	c.190_192delGAC	CCDS4500.1																																																																																				0.433	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	0	NM_031480		6:7393450
ZFYVE9	9372	broad.mit.edu	37	1	52769568	52769569	+	Frame_Shift_Ins	INS	-	-	GATTGAAGCAGAATAAATTAATTCATCAATGG			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:52769568_52769569insGATTGAAGCAGAATAAATTAATTCATCAATGG	ENST00000371591.1	+	12	3540_3541	c.3409_3410insGATTGAAGCAGAATAAATTAATTCATCAATGG	c.(3409-3411)atcfs	p.I1137fs	ZFYVE9_ENST00000357206.2_Frame_Shift_Ins_p.I1078fs|ZFYVE9_ENST00000287727.3_Frame_Shift_Ins_p.I1137fs|ZFYVE9_ENST00000469134.1_3'UTR	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1137					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GAAAACTAGCATCAAAATTCCC	0.381																																						ENST00000371591.1		NA																	0				breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						c.(3409-3411)atcfs		zinc finger, FYVE domain containing 9																																				SO:0001589	frameshift_variant	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52769568_52769569insGATTGAAGCAGAATAAATTAATTCATCAATGG	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	Exception_encountered	1.37:g.52769568_52769569insGATTGAAGCAGAATAAATTAATTCATCAATGG	ENSP00000360647:p.Ile1137fs	False	False		Somatic	0				ZFYVE9_ENST00000357206.2_Frame_Shift_Ins_p.I1078fs|ZFYVE9_ENST00000287727.3_Frame_Shift_Ins_p.I1137fs|ZFYVE9_ENST00000469134.1_3'UTR	p.I1137fs			WXS	Illumina HiSeq	Phase_I	O95405	ZFYV9_HUMAN			12	3540_3541	+			1137					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Frame_Shift_Ins	INS	ENST00000371591.1	37	c.3409_3410insGATTGAAGCAGAATAAATTAATTCATCAATGG	CCDS563.1																																																																																				0.381	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	0	NM_007324		1:52769568
ZMIZ2	83637	broad.mit.edu	37	7	44797065	44797109	+	In_Frame_Del	DEL	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	-	rs557719047|rs142075074|rs371185257	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	-	-	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:44797065_44797109delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	ENST00000309315.4	+	5	580_624	c.457_501delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	c.(457-501)gtggctgctgcggcagccactgccaccgccacagccacagccaccdel	p.VAAAAATATATATAT153del	ZMIZ2_ENST00000413916.1_In_Frame_Del_p.VAAAAATATATATAT121del|ZMIZ2_ENST00000441627.1_In_Frame_Del_p.VAAAAATATATATAT153del|ZMIZ2_ENST00000433667.1_In_Frame_Del_p.VAAAAATATATATAT121del|ZMIZ2_ENST00000265346.7_In_Frame_Del_p.VAAAAATATATATAT153del	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	153	Ala-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)	p.A164G(1)|p.A147_A155del(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						tgctgcagctgtggctgctgcggcagccactgccaccgccacagccacagccaccgtggctgctC	0.678																																					NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4		NA																	2	Substitution - Missense(1)|Deletion - In frame(1)	p.A164G(1)|p.A147_A155del(1)	large_intestine(1)|breast(1)	breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(457-501)gtggctgctgcggcagccactgccaccgccacagccacagccaccdel		zinc finger, MIZ-type containing 2																																				SO:0001651	inframe_deletion	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44797065_44797109delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.457_501delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	7.37:g.44797065_44797109delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	ENSP00000311778:p.Val153_Thr167del	False	False		Somatic	1				ZMIZ2_ENST00000265346.7_In_Frame_Del_p.VAAAAATATATATAT153del|ZMIZ2_ENST00000413916.1_In_Frame_Del_p.VAAAAATATATATAT121del|ZMIZ2_ENST00000433667.1_In_Frame_Del_p.VAAAAATATATATAT121del|ZMIZ2_ENST00000441627.1_In_Frame_Del_p.VAAAAATATATATAT153del	p.VAAAAATATATATAT153del	NM_031449.3	NP_113637.3	WXS	Illumina HiSeq	Phase_I	Q8NF64	ZMIZ2_HUMAN			5	580_624	+			153			Ala-rich.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	In_Frame_Del	DEL	ENST00000309315.4	37	c.457_501delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	CCDS43576.1																																																																																				0.678	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	0	NM_031449		7:44797065
ADAMDEC1	27299	broad.mit.edu	37	8	24254971	24254972	+	Splice_Site	INS	-	-	TTTATCTGGTATCTTTGGTGATGATGTGTGAAGTATCCTCTGGGA			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr8:24254971_24254972insTTTATCTGGTATCTTTGGTGATGATGTGTGAAGTATCCTCTGGGA	ENST00000256412.4	+	6	847		c.e6+2		RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Splice_Site|ADAMDEC1_ENST00000538205.1_Splice_Site	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1						immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AGCCCAGAGGTGAATACAATTC	0.421																																					Ovarian(147;687 1849 3699 25981 31337)	ENST00000256412.4		NA																	0				NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9						c.e6+2		ADAM-like, decysin 1																																				SO:0001630	splice_region_variant	27299				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:24254971_24254972insTTTATCTGGTATCTTTGGTGATGATGTGTGAAGTATCCTCTGGGA	Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.627+2->TTTATCTGGTATCTTTGGTGATGATGTGTGAAGTATCCTCTGGGA	8.37:g.24254971_24254972insTTTATCTGGTATCTTTGGTGATGATGTGTGAAGTATCCTCTGGGA		False	False		Somatic	0				ADAMDEC1_ENST00000538205.1_Splice_Site|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Splice_Site		NM_014479.3	NP_055294.1	WXS	Illumina HiSeq	Phase_I	O15204	ADEC1_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)	6	847	+		Prostate(55;0.0181)	NA					B7ZAK5	Splice_Site	INS	ENST00000256412.4	37		CCDS6044.1																																																																																				0.421	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	0	NM_014479	Intron	8:24254971
OR2K2	26248	broad.mit.edu	37	9	114090671	114090672	+	In_Frame_Ins	INS	-	-	TTTCATGGATATTTGTTA			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr9:114090671_114090672insTTTCATGGATATTTGTTA	ENST00000374428.1	-	1	128_129	c.129_130insTAACAAATATCCATGAAA	c.(127-132)ttggag>ttgTAACAAATATCCATGAAAgag	p.43_44LE>L*QISMKE	OR2K2_ENST00000302681.1_In_Frame_Ins_p.14_15LE>L*QISMKE			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	43						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						GAAAATCCCTCCAAGAAAAAAA	0.391																																						ENST00000302681.1		NA																	0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						c.(40-45)ttggag>ttgTAACAAATATCCATGAAAgag		olfactory receptor, family 2, subfamily K, member 2																																				SO:0001652	inframe_insertion	26248				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:114090671_114090672insTTTCATGGATATTTGTTA	X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133		"""GPCR / Class A : Olfactory receptors"""	8264	protein-coding gene	gene with protein product				OR2AR1P		1370859, 17010214	Standard	NM_205859		Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000374428.1:c.129_130insTAACAAATATCCATGAAA	9.37:g.114090671_114090672insTTTCATGGATATTTGTTA	ENSP00000363550:p.Leu43_Glu44ins*GlnIleSerMetLys	False	False		Somatic	0				OR2K2_ENST00000374428.1_In_Frame_Ins_p.43_44LE>L*QISMKE	p.14_15LE>L*QISMKE	NM_205859.1	NP_995581.1	WXS	Illumina HiSeq	Phase_I	Q8NGT1	OR2K2_HUMAN			1	41_42	-			43					Q2TA61|Q5VYK4|Q6IFI5	In_Frame_Ins	INS	ENST00000374428.1	37	c.42_43insTAACAAATATCCATGAAA																																																																																					0.391	OR2K2-201	KNOWN	basic	protein_coding	protein_coding		0	NM_205859		9:114090671
ZC3H7B	23264	broad.mit.edu	37	22	41742053	41742053	+	Silent	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr22:41742053C>T	ENST00000352645.4	+	14	1763	c.1506C>T	c.(1504-1506)ttC>ttT	p.F502F	ZC3H7B_ENST00000351589.4_Silent_p.F502F	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	518					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ACTGCACCTTCGCCTACCATC	0.607																																						ENST00000352645.4		NA																	0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(1504-1506)ttC>ttT		zinc finger CCCH-type containing 7B							197.0	167.0	177.0					22																	41742053		2203	4300	6503	SO:0001819	synonymous_variant	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41742053C>T		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.1506C>T	22.37:g.41742053C>T		False	False		Somatic	0				ZC3H7B_ENST00000351589.4_Silent_p.F502F	p.F502F	NM_017590.4	NP_060060.3	WXS	Illumina HiSeq	Phase_I	Q9UGR2	Z3H7B_HUMAN			14	1763	+			518					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Silent	SNP	ENST00000352645.4	37	c.1506C>T	CCDS14013.1																																																																																				0.607	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	0	NM_017590		22:41742053
SUSD4	55061	broad.mit.edu	37	1	223465880	223465880	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:223465880C>T	ENST00000343846.3	-	2	895	c.262G>A	c.(262-264)Gga>Aga	p.G88R	SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000344029.6_Missense_Mutation_p.G88R|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000366878.4_Missense_Mutation_p.G88R|SUSD4_ENST00000494793.2_Missense_Mutation_p.G88R|SUSD4_ENST00000484758.2_Intron			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	88	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		AGCTTGAATCCGTCTTGGCAG	0.512																																						ENST00000343846.3		NA																	0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17						c.(262-264)Gga>Aga		sushi domain containing 4							119.0	124.0	122.0					1																	223465880		2203	4300	6503	SO:0001583	missense	55061					integral to membrane		g.chr1:223465880C>T	AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.262G>A	1.37:g.223465880C>T	ENSP00000344219:p.Gly88Arg	False	False		Somatic	0				SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000484758.2_Intron|SUSD4_ENST00000366878.4_Missense_Mutation_p.G88R|SUSD4_ENST00000494793.2_Missense_Mutation_p.G88R|SUSD4_ENST00000344029.6_Missense_Mutation_p.G88R	p.G88R			WXS	Illumina HiSeq	Phase_I	Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	2	895	-			88			Sushi 1.		D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	ENST00000343846.3	37	c.262G>A	CCDS41471.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.685607	0.88639	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000271787;ENST00000344029	T;T;T	0.76709	-1.04;-1.04;-1.04	5.36	5.36	0.76844	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.46442	D	0.000285	D	0.88742	0.6519	M	0.78344	2.41	0.80722	D	1	D;P	0.89917	1.0;0.952	D;B	0.97110	1.0;0.411	D	0.89846	0.4006	10	0.87932	D	0	-7.532	19.0844	0.93198	0.0:1.0:0.0:0.0	.	88;88	Q5VX71-3;Q5VX71	.;SUSD4_HUMAN	R	88	ENSP00000344219:G88R;ENSP00000355843:G88R;ENSP00000339926:G88R	ENSP00000271787:G88R	G	-	1	0	SUSD4	221532503	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.685000	0.68204	2.506000	0.84524	0.561000	0.74099	GGA		0.512	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	0	NM_017982		1:223465880
PAQR4	124222	broad.mit.edu	37	16	3021758	3021758	+	Missense_Mutation	SNP	G	G	A	rs200076772		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr16:3021758G>A	ENST00000318782.8	+	3	1061	c.631G>A	c.(631-633)Gca>Aca	p.A211T	PAQR4_ENST00000576565.1_Missense_Mutation_p.A144T|PAQR4_ENST00000572687.1_Missense_Mutation_p.A137T|PAQR4_ENST00000574988.1_Missense_Mutation_p.A144T|PKMYT1_ENST00000571102.1_5'Flank|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000293978.8_Missense_Mutation_p.A172T	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	211						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						GCGCATGGACGCACTGGCGCT	0.657																																						ENST00000318782.8		NA																	0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(631-633)Gca>Aca		progestin and adipoQ receptor family member IV							46.0	50.0	48.0					16																	3021758		2197	4300	6497	SO:0001583	missense	124222					integral to membrane	receptor activity	g.chr16:3021758G>A		CCDS10485.1, CCDS66911.1, CCDS66912.1, CCDS73814.1	16p13	2008-05-02			ENSG00000162073	ENSG00000162073			26386	protein-coding gene	gene with protein product		614578				12477932	Standard	XM_005255112		Approved	FLJ30002	uc002csj.4	Q8N4S7	OTTHUMG00000128977	ENST00000318782.8:c.631G>A	16.37:g.3021758G>A	ENSP00000321804:p.Ala211Thr	False	False		Somatic	0				PAQR4_ENST00000293978.8_Missense_Mutation_p.A172T|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000572687.1_Missense_Mutation_p.A137T|PAQR4_ENST00000574988.1_Missense_Mutation_p.A144T|PAQR4_ENST00000576565.1_Missense_Mutation_p.A144T	p.A211T	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	WXS	Illumina HiSeq	Phase_I	Q8N4S7	PAQR4_HUMAN			3	1061	+			211					A8K5Q8|D3DUA2|D3DUA3|Q8NAS6|Q96NW1	Missense_Mutation	SNP	ENST00000318782.8	37	c.631G>A	CCDS10485.1	.	.	.	.	.	.	.	.	.	.	g	11.42	1.633267	0.29068	.	.	ENSG00000162073	ENST00000318782;ENST00000293978	T;T	0.30714	1.52;1.53	4.81	4.81	0.61882	.	0.062180	0.64402	D	0.000007	T	0.38639	0.1048	M	0.64080	1.96	0.37162	D	0.902642	D;P;P	0.56521	0.976;0.78;0.919	P;B;B	0.48840	0.592;0.187;0.37	T	0.41088	-0.9528	10	0.23302	T	0.38	-10.4425	15.3988	0.74818	0.0:0.0:1.0:0.0	.	136;172;211	Q8N4S7-3;Q8N4S7-2;Q8N4S7	.;.;PAQR4_HUMAN	T	211;137	ENSP00000321804:A211T;ENSP00000293978:A137T	ENSP00000293978:A137T	A	+	1	0	PAQR4	2961759	0.995000	0.38212	0.120000	0.21714	0.698000	0.40448	3.970000	0.56824	2.220000	0.72140	0.457000	0.33378	GCA		0.657	PAQR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250966.1	0	NM_152341		16:3021758
LRRC10	376132	broad.mit.edu	37	12	70003865	70003865	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr12:70003865C>T	ENST00000361484.3	-	1	1077	c.754G>A	c.(754-756)Gcc>Acc	p.A252T		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	252					cardiac muscle cell development (GO:0055013)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sarcomere (GO:0030017)				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TAGCGCCTGGCTTTTCTAGGG	0.582																																						ENST00000361484.3		NA																	0				large_intestine(2)|lung(6)	8						c.(754-756)Gcc>Acc		leucine rich repeat containing 10							100.0	83.0	88.0					12																	70003865		2203	4300	6503	SO:0001583	missense	376132					nucleus		g.chr12:70003865C>T	AK095935	CCDS31856.1	12q15	2009-09-08				ENSG00000198812			20264	protein-coding gene	gene with protein product		610846				14751244	Standard	NM_201550		Approved	HRLRRP, LRRC10A	uc001svc.3	Q5BKY1		ENST00000361484.3:c.754G>A	12.37:g.70003865C>T	ENSP00000355166:p.Ala252Thr	True	False		Somatic	0					p.A252T	NM_201550.2	NP_963844.2	WXS	Illumina HiSeq	Phase_I	Q5BKY1	LRC10_HUMAN	Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		1	1077	-	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		252					Q6ZVY4	Missense_Mutation	SNP	ENST00000361484.3	37	c.754G>A	CCDS31856.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.599545	0.28534	.	.	ENSG00000198812	ENST00000361484	T	0.58060	0.36	5.63	2.59	0.31030	.	0.485815	0.21421	N	0.074802	T	0.30135	0.0755	N	0.16478	0.41	0.27690	N	0.94614	B	0.06786	0.001	B	0.04013	0.001	T	0.14227	-1.0480	10	0.17832	T	0.49	.	7.034	0.24983	0.0:0.5914:0.1946:0.214	.	252	Q5BKY1	LRC10_HUMAN	T	252	ENSP00000355166:A252T	ENSP00000355166:A252T	A	-	1	0	LRRC10	68290132	0.993000	0.37304	0.998000	0.56505	0.930000	0.56654	1.083000	0.30815	0.823000	0.34589	0.561000	0.74099	GCC		0.582	LRRC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403834.1	0	NM_201550		12:70003865
UGT1A9	54600	broad.mit.edu	37	2	234580748	234580748	+	Silent	SNP	T	T	C			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:234580748T>C	ENST00000354728.4	+	1	250	c.168T>C	c.(166-168)gtT>gtC	p.V56V	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Silent_p.V56V			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	56					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)	p.V56V(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	ATGAGGTGGTTGTAGTCATGC	0.532																																						ENST00000354728.4		NA																	1	Substitution - coding silent(1)	p.V56V(1)	kidney(1)	breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37						c.(166-168)gtT>gtC									100.0	85.0	90.0					2																	234580748		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr2:234580748T>C	AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"""UDP glucuronosyltransferases"""	12541	other	complex locus constituent		606434	"""UDP glycosyltransferase 1 family, polypeptide A9"""			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.168T>C	2.37:g.234580748T>C		False	False		Somatic	0				UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Silent_p.V56V	p.V56V			WXS	Illumina HiSeq	Phase_I				Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	1	250	+		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)	NA					B8K285|P36509|Q9HAX0	Silent	SNP	ENST00000354728.4	37	c.168T>C	CCDS2505.1																																																																																				0.532	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	0	NM_021027		2:234580748
LTBP2	4053	broad.mit.edu	37	14	74988701	74988701	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:74988701G>A	ENST00000261978.4	-	17	3087	c.2701C>T	c.(2701-2703)Cgc>Tgc	p.R901C	LTBP2_ENST00000556690.1_Missense_Mutation_p.R901C	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	901	Cys-rich.|EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TTGATGCAGCGCCCTTTTCCC	0.622																																						ENST00000261978.4		NA																	0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2701-2703)Cgc>Tgc		latent transforming growth factor beta binding protein 2							78.0	70.0	73.0					14																	74988701		2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74988701G>A		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.2701C>T	14.37:g.74988701G>A	ENSP00000261978:p.Arg901Cys	True	False		Somatic	0				LTBP2_ENST00000556690.1_Missense_Mutation_p.R901C	p.R901C	NM_000428.2	NP_000419.1	WXS	Illumina HiSeq	Phase_I	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	17	3087	-			901			Cys-rich.|EGF-like 5; calcium-binding (Potential).		Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.2701C>T	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.840149	0.71488	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.22336	1.96;1.96	3.99	3.99	0.46301	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.184414	0.26525	N	0.023890	T	0.47710	0.1460	M	0.86864	2.845	0.50467	D	0.999877	D	0.76494	0.999	P	0.62740	0.906	T	0.55970	-0.8056	10	0.52906	T	0.07	.	13.9681	0.64221	0.0:0.0:1.0:0.0	.	901	Q14767	LTBP2_HUMAN	C	901	ENSP00000261978:R901C;ENSP00000451477:R901C	ENSP00000261978:R901C	R	-	1	0	LTBP2	74058454	0.999000	0.42202	0.944000	0.38274	0.649000	0.38597	7.347000	0.79356	2.214000	0.71695	0.462000	0.41574	CGC		0.622	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	0	NM_000428		14:74988701
GGT1	2678	broad.mit.edu	37	22	24982154	24982154	+	Intron	SNP	G	G	A	rs200740419		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr22:24982154G>A	ENST00000248923.4	+	1	59				FAM211B_ENST00000318753.8_Silent_p.N216N|FAM211B_ENST00000495297.1_5'Flank	NM_013430.2	NP_038347.2	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1						arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	GTCGGTTGCCGTTGAGCAGGA	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		18370	0.001		0.0	False		,,,				2504	0.0					ENST00000318753.8		NA																	0					NA						c.(646-648)aaC>aaT		family with sequence similarity 211, member B							75.0	88.0	84.0					22																	24982154		2152	4258	6410	SO:0001627	intron_variant	388886							g.chr22:24982154G>A	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000248923.4:c.-429+2378G>A	22.37:g.24982154G>A		False	False		Somatic	0				GGT1_ENST00000248923.4_Intron	p.N216N	NM_207644.2	NP_997527.2	WXS	Illumina HiSeq	Phase_I	Q2VPJ9	LRC6X_HUMAN			4	671	-			216					Q08247|Q14404|Q8TBS1|Q9UMK1	Silent	SNP	ENST00000248923.4	37	c.648C>T	CCDS42992.1																																																																																				0.652	GGT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319110.1	0	NM_013430		22:24982154
WBSCR17	64409	broad.mit.edu	37	7	70853388	70853388	+	Splice_Site	SNP	G	G	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:70853388G>T	ENST00000333538.5	+	3	1223		c.e3+1		WBSCR17_ENST00000498380.2_Splice_Site	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17						protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AGCGACGAAGGTACAGGGGTG	0.582																																						ENST00000333538.5		NA																	0				NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100						c.e3+1		Williams-Beuren syndrome chromosome region 17							104.0	75.0	85.0					7																	70853388		2203	4300	6503	SO:0001630	splice_region_variant	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:70853388G>T	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.589+1G>T	7.37:g.70853388G>T		False	False		Somatic	0				WBSCR17_ENST00000498380.2_Splice_Site		NM_022479.1	NP_071924.1	WXS	Illumina HiSeq	Phase_I	Q6IS24	GLTL3_HUMAN			3	1223	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	NA					Q8NFV9|Q9NTA8	Splice_Site	SNP	ENST00000333538.5	37		CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.379837	0.42207	.	.	ENSG00000185274	ENST00000333538;ENST00000447516	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9334	0.92576	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WBSCR17	70491324	1.000000	0.71417	1.000000	0.80357	0.044000	0.14063	9.588000	0.98232	2.782000	0.95742	0.655000	0.94253	.		0.582	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	0	NM_022479	Intron	7:70853388
CHD7	55636	broad.mit.edu	37	8	61654852	61654852	+	Silent	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr8:61654852G>A	ENST00000423902.2	+	2	1340	c.861G>A	c.(859-861)ccG>ccA	p.P287P	CHD7_ENST00000524602.1_Silent_p.P287P|CHD7_ENST00000525508.1_Silent_p.P287P	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	287					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.P287P(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CTGTTAGGCCGCAAACCCTTA	0.512																																						ENST00000423902.2		NA																	2	Substitution - coding silent(2)	p.P287P(2)	lung(2)	NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(859-861)ccG>ccA		chromodomain helicase DNA binding protein 7							96.0	96.0	96.0					8																	61654852		1909	4121	6030	SO:0001819	synonymous_variant	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61654852G>A	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.861G>A	8.37:g.61654852G>A		False	False		Somatic	0				CHD7_ENST00000525508.1_Silent_p.P287P|CHD7_ENST00000524602.1_Silent_p.P287P	p.P287P	NM_017780.3	NP_060250.2	WXS	Illumina HiSeq	Phase_I	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		2	1340	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	287					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	c.861G>A	CCDS47865.1																																																																																				0.512	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	0	XM_098762		8:61654852
RFTN1	23180	broad.mit.edu	37	3	16475456	16475456	+	Silent	SNP	C	C	T	rs144679139		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:16475456C>T	ENST00000334133.4	-	3	506	c.234G>A	c.(232-234)tcG>tcA	p.S78S	RFTN1_ENST00000432519.1_Silent_p.S42S	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	78					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						GGGCCGCCAGCGAGAAGCCCT	0.647																																						ENST00000334133.4		NA																	0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						c.(232-234)tcG>tcA		raftlin, lipid raft linker 1							50.0	56.0	54.0					3																	16475456		2203	4300	6503	SO:0001819	synonymous_variant	23180					plasma membrane		g.chr3:16475456C>T	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"""raft-linking protein"""					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.234G>A	3.37:g.16475456C>T		False	False		Somatic	0				RFTN1_ENST00000432519.1_Silent_p.S42S	p.S78S	NM_015150.1	NP_055965.1	WXS	Illumina HiSeq	Phase_I	Q14699	RFTN1_HUMAN			3	506	-			78					Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Silent	SNP	ENST00000334133.4	37	c.234G>A	CCDS33712.1																																																																																				0.647	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	0	NM_015150		3:16475456
NYNRIN	57523	broad.mit.edu	37	14	24877207	24877207	+	Missense_Mutation	SNP	G	G	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:24877207G>T	ENST00000382554.3	+	3	649	c.331G>T	c.(331-333)Gtg>Ttg	p.V111L		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	111					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TGCCTACCTGGTGCCTGGCCC	0.642																																						ENST00000382554.3		NA																	0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(331-333)Gtg>Ttg		NYN domain and retroviral integrase containing							66.0	72.0	70.0					14																	24877207		2093	4213	6306	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24877207G>T	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.331G>T	14.37:g.24877207G>T	ENSP00000371994:p.Val111Leu	False	False		Somatic	0					p.V111L	NM_025081.2	NP_079357.2	WXS	Illumina HiSeq	Phase_I	Q9P2P1	NYNRI_HUMAN			3	649	+			111					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.331G>T	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.375905	0.61735	.	.	ENSG00000205978	ENST00000382554	T	0.12255	2.7	4.82	4.82	0.62117	.	0.830019	0.09626	N	0.776903	T	0.18130	0.0435	M	0.65975	2.015	0.24216	N	0.995458	B	0.21520	0.057	B	0.17979	0.02	T	0.08638	-1.0712	10	0.87932	D	0	.	8.9155	0.35579	0.0986:0.0:0.9014:0.0	.	111	Q9P2P1	NYNRI_HUMAN	L	111	ENSP00000371994:V111L	ENSP00000371994:V111L	V	+	1	0	NYNRIN	23947047	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.690000	0.54713	2.503000	0.84419	0.655000	0.94253	GTG		0.642	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1	0			14:24877207
TRIP11	9321	broad.mit.edu	37	14	92470800	92470800	+	Missense_Mutation	SNP	C	C	G			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:92470800C>G	ENST00000267622.4	-	11	3893	c.3520G>C	c.(3520-3522)Gat>Cat	p.D1174H		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1174					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTTAGTGCATCTATTTCGATG	0.348			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4		NA		Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(3520-3522)Gat>Cat		thyroid hormone receptor interactor 11							78.0	68.0	72.0					14																	92470800		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92470800C>G	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.3520G>C	14.37:g.92470800C>G	ENSP00000267622:p.Asp1174His	False	False		Somatic	0					p.D1174H	NM_004239.3	NP_004230.2	WXS	Illumina HiSeq	Phase_I	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	3893	-			1174					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.3520G>C	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.27|15.27	2.784471|2.784471	0.49997|0.49997	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.07800|.	3.16|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59742|0.59742	0.2216|0.2216	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.999|.	T|T	0.54721|0.54721	-0.8251|-0.8251	10|5	0.72032|.	D|.	0.01|.	.|.	18.8762|18.8762	0.92337|0.92337	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	910;1174|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	H|T	1174;910|889	ENSP00000267622:D1174H|.	ENSP00000267622:D1174H|.	D|R	-|-	1|2	0|0	TRIP11|TRIP11	91540553|91540553	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.341000|0.341000	0.28922|0.28922	6.025000|6.025000	0.70864|0.70864	2.447000|2.447000	0.82792|0.82792	0.557000|0.557000	0.71058|0.71058	GAT|AGA		0.348	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1	0			14:92470800
PCK1	5105	broad.mit.edu	37	20	56138146	56138146	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr20:56138146C>T	ENST00000319441.4	+	5	837	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Missense_Mutation_p.R93C	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	225					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCTGCCTGACCGCAGAGAGAT	0.622																																						ENST00000319441.4		NA																	0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34						c.(673-675)Cgc>Tgc		phosphoenolpyruvate carboxykinase 1 (soluble)							72.0	74.0	73.0					20																	56138146		2203	4300	6503	SO:0001583	missense	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56138146C>T		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.673C>T	20.37:g.56138146C>T	ENSP00000319814:p.Arg225Cys	False	False		Somatic	0				PCK1_ENST00000535860.1_Missense_Mutation_p.R93C|PCK1_ENST00000543666.1_Intron	p.R225C	NM_002591.3	NP_002582.3	WXS	Illumina HiSeq	Phase_I	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		5	837	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		225					A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	ENST00000319441.4	37	c.673C>T	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	C	34	5.369151	0.95900	.	.	ENSG00000124253	ENST00000319441;ENST00000535860	T;T	0.04406	3.63;3.63	5.06	5.06	0.68205	Phosphoenolpyruvate carboxykinase, N-terminal (2);	0.152325	0.56097	D	0.000028	T	0.12603	0.0306	L	0.43152	1.355	0.80722	D	1	D	0.54772	0.968	P	0.54856	0.762	T	0.00697	-1.1605	10	0.66056	D	0.02	-30.42	18.803	0.92025	0.0:1.0:0.0:0.0	.	225	P35558	PCKGC_HUMAN	C	225;93	ENSP00000319814:R225C;ENSP00000444342:R93C	ENSP00000319814:R225C	R	+	1	0	PCK1	55571552	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.333000	0.79214	2.520000	0.84964	0.655000	0.94253	CGC		0.622	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2	0			20:56138146
NUP210P1	255330	broad.mit.edu	37	3	126386104	126386104	+	RNA	SNP	C	C	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:126386104C>A	ENST00000357061.3	+	0	556					NR_034158.1				nucleoporin 210kDa pseudogene 1																		AGAACCCTTTCTCCTTTGGCA	0.582																																						ENST00000357061.3		NA																	0					NA																																														0							g.chr3:126386104C>A	BC042038		3q21.2	2011-08-16	2011-08-16	2011-08-16	ENSG00000198284	ENSG00000198284			27399	pseudogene	pseudogene			"""chromosome 3 open reading frame 46"""	C3orf46			Standard	NR_034158		Approved		uc003eje.1		OTTHUMG00000159577		3.37:g.126386104C>A		True	False		Somatic	0						NR_034158.1		WXS	Illumina HiSeq	Phase_I					0	556	+			NA						RNA	SNP	ENST00000357061.3	37																																																																																						0.582	NUP210P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000356320.1	0	NR_034158		3:126386104
SPTA1	6708	broad.mit.edu	37	1	158592861	158592861	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:158592861G>A	ENST00000368147.4	-	43	6212	c.6032C>T	c.(6031-6033)gCc>gTc	p.A2011V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2011					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.A2011V(6)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGCAGAGCGGCATAACGCTC	0.483																																						ENST00000368147.4		NA																	6	Substitution - Missense(6)	p.A2011V(6)	lung(4)|urinary_tract(1)|prostate(1)	NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(6031-6033)gCc>gTc		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							267.0	267.0	267.0					1																	158592861		1943	4143	6086	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158592861G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6032C>T	1.37:g.158592861G>A	ENSP00000357129:p.Ala2011Val	False	False		Somatic	0					p.A2011V	NM_003126.2	NP_003117.2	WXS	Illumina HiSeq	Phase_I	P02549	SPTA1_HUMAN			43	6212	-	all_hematologic(112;0.0378)		NA					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.6032C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	9.476	1.096957	0.20552	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51325	0.71;0.71	4.78	0.669	0.17918	.	.	.	.	.	T	0.22859	0.0552	M	0.68952	2.095	0.30521	N	0.768424	B	0.23990	0.095	B	0.29267	0.1	T	0.14531	-1.0469	9	0.33940	T	0.23	.	5.4632	0.16627	0.1562:0.0:0.5633:0.2805	.	2011	P02549	SPTA1_HUMAN	V	2011;2008	ENSP00000357130:A2011V;ENSP00000357129:A2008V	ENSP00000357129:A2008V	A	-	2	0	SPTA1	156859485	1.000000	0.71417	0.002000	0.10522	0.000000	0.00434	4.149000	0.58091	-0.029000	0.13827	-0.140000	0.14226	GCC		0.483	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	0	NM_003126		1:158592861
ZNF780A	284323	broad.mit.edu	37	19	40581109	40581109	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:40581109T>C	ENST00000595687.2	-	6	1449	c.1240A>G	c.(1240-1242)Ata>Gta	p.I414V	ZNF780A_ENST00000594395.1_Missense_Mutation_p.I415V|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000450241.2_Missense_Mutation_p.I380V|ZNF780A_ENST00000340963.5_Missense_Mutation_p.I414V|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Missense_Mutation_p.I415V	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	414					regulation of transcription, DNA-templated (GO:0006355)|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)	p.I415V(1)|p.I380V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TATGGTTTTATACCAGCATGA	0.383																																						ENST00000450241.2		NA																	2	Substitution - Missense(2)	p.I415V(1)|p.I380V(1)	lung(2)	breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(1138-1140)Ata>Gta		zinc finger protein 780A							178.0	182.0	180.0					19																	40581109		2203	4300	6503	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40581109T>C	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1240A>G	19.37:g.40581109T>C	ENSP00000472189:p.Ile414Val	False	False		Somatic	0				ZNF780A_ENST00000595687.2_Missense_Mutation_p.I414V|ZNF780A_ENST00000594395.1_Missense_Mutation_p.I415V|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Missense_Mutation_p.I415V|ZNF780A_ENST00000340963.5_Missense_Mutation_p.I414V	p.I380V			WXS	Illumina HiSeq	Phase_I	O75290	Z780A_HUMAN			6	1449	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		414					E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.1138A>G	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	T	10.67	1.415046	0.25552	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.16897	2.31;2.31	1.93	0.83	0.18854	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08670	0.0215	N	0.05383	-0.06	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31641	-0.9936	9	0.59425	D	0.04	.	8.0199	0.30404	0.0:0.8348:0.0:0.1652	.	415;414	E9PB48;O75290	.;Z780A_HUMAN	V	414;415;414	ENSP00000400997:I415V;ENSP00000341507:I414V	ENSP00000341507:I414V	I	-	1	0	ZNF780A	45272949	0.003000	0.15002	0.007000	0.13788	0.407000	0.30961	1.030000	0.30153	-0.222000	0.09958	-1.945000	0.00491	ATA		0.383	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	0	NM_001010880		19:40581109
VGLL4	9686	broad.mit.edu	37	3	11643423	11643423	+	Silent	SNP	G	G	A	rs151086238	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:11643423G>A	ENST00000430365.2	-	2	561	c.156C>T	c.(154-156)acC>acT	p.T52T	VGLL4_ENST00000480288.1_5'Flank|VGLL4_ENST00000404339.1_Silent_p.T51T|VGLL4_ENST00000273038.3_Silent_p.T46T|VGLL4_ENST00000413604.1_5'UTR	NM_001128219.1	NP_001121691.1	Q14135	VGLL4_HUMAN	vestigial-like family member 4	46					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		GGGGAGGGCCGGTGCGGTGAC	0.592													G|||	4	0.000798722	0.003	0.0	5008	,	,		13377	0.0		0.0	False		,,,				2504	0.0					ENST00000273038.3		NA																	0				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(136-138)acC>acT		vestigial like 4 (Drosophila)		G	,	21,4385	28.1+/-56.4	0,21,2182	79.0	77.0	78.0		156,138	-10.7	0.0	3	dbSNP_134	78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	VGLL4	NM_001128219.1,NM_014667.2	,	0,22,6481	AA,AG,GG		0.0116,0.4766,0.1692	,	52/297,46/291	11643423	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	9686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:11643423G>A	D50911	CCDS2606.1, CCDS46754.1, CCDS46755.1, CCDS46756.1, CCDS68342.1, CCDS68343.1	3p25.2	2014-03-03	2014-03-03		ENSG00000144560	ENSG00000144560			28966	protein-coding gene	gene with protein product			"""vestigial like 4 (Drosophila)"""			8590280, 15140898	Standard	NM_001284390		Approved	KIAA0121	uc010hdx.1	Q14135	OTTHUMG00000129739	ENST00000430365.2:c.156C>T	3.37:g.11643423G>A		True	False		Somatic	0				VGLL4_ENST00000430365.2_Silent_p.T52T|VGLL4_ENST00000413604.1_5'UTR|VGLL4_ENST00000404339.1_Silent_p.T51T	p.T46T	NM_001284391.1|NM_014667.2	NP_001271320.1|NP_055482.2	WXS	Illumina HiSeq	Phase_I	Q14135	VGLL4_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)	3	503	-			46					B4DTS7|J3KN68|Q7L5V0|Q9BQ78	Silent	SNP	ENST00000430365.2	37	c.138C>T	CCDS46754.1																																																																																				0.592	VGLL4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339133.1	0	NM_014667		3:11643423
BEND2	139105	broad.mit.edu	37	X	18183254	18183254	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chrX:18183254G>A	ENST00000380033.4	-	14	2407	c.2275C>T	c.(2275-2277)Cgt>Tgt	p.R759C		NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	759	BEN 2. {ECO:0000255|PROSITE- ProRule:PRU00784}.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						CTAAGGCTACGGATACCGCTG	0.517																																						ENST00000380033.4		NA																	0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						c.(2275-2277)Cgt>Tgt		BEN domain containing 2							197.0	173.0	181.0					X																	18183254		2203	4300	6503	SO:0001583	missense	139105							g.chrX:18183254G>A	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.2275C>T	X.37:g.18183254G>A	ENSP00000369372:p.Arg759Cys	False	False		Somatic	0					p.R759C	NM_153346.4	NP_699177.2	WXS	Illumina HiSeq	Phase_I	Q8NDZ0	BEND2_HUMAN			14	2407	-			759			BEN 2.		E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	c.2275C>T	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.879159	0.51801	.	.	ENSG00000177324	ENST00000380033	T	0.52295	0.67	5.69	1.73	0.24493	BEN domain (2);	0.351432	0.26065	N	0.026542	T	0.34774	0.0909	L	0.52759	1.655	0.09310	N	1	D	0.53151	0.958	B	0.39027	0.288	T	0.32719	-0.9896	10	0.87932	D	0	-1.0766	5.6482	0.17602	0.2622:0.138:0.5998:0.0	.	759	Q8NDZ0	BEND2_HUMAN	C	759	ENSP00000369372:R759C	ENSP00000369372:R759C	R	-	1	0	BEND2	18093175	0.107000	0.21998	0.000000	0.03702	0.028000	0.11728	0.794000	0.26958	-0.077000	0.12752	-0.268000	0.10319	CGT		0.517	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	0	NM_153346		X:18183254
ZNF831	128611	broad.mit.edu	37	20	57768280	57768280	+	Missense_Mutation	SNP	G	G	C			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr20:57768280G>C	ENST00000371030.2	+	1	2206	c.2206G>C	c.(2206-2208)Ggc>Cgc	p.G736R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	736							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGCACTGGGTGGCAGAGACAG	0.627																																						ENST00000371030.2		NA																	0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(2206-2208)Ggc>Cgc		zinc finger protein 831							19.0	23.0	21.0					20																	57768280		2021	4174	6195	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57768280G>C	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2206G>C	20.37:g.57768280G>C	ENSP00000360069:p.Gly736Arg	False	False		Somatic	0					p.G736R	NM_178457.1	NP_848552.1	WXS	Illumina HiSeq	Phase_I	Q5JPB2	ZN831_HUMAN			1	2206	+	all_lung(29;0.0085)		736					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.2206G>C	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.951969	0.34471	.	.	ENSG00000124203	ENST00000371030	T	0.04275	3.66	5.08	-4.76	0.03229	.	0.547276	0.17694	N	0.165163	T	0.02727	0.0082	N	0.08118	0	0.09310	N	1	P	0.49961	0.93	P	0.48030	0.564	T	0.39881	-0.9592	10	0.48119	T	0.1	-2.5812	6.2258	0.20708	0.3917:0.0:0.4426:0.1657	.	736	Q5JPB2	ZN831_HUMAN	R	736	ENSP00000360069:G736R	ENSP00000360069:G736R	G	+	1	0	ZNF831	57201675	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.311000	0.08124	-0.793000	0.04475	0.643000	0.83706	GGC		0.627	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	0	NM_178457		20:57768280
CSMD3	114788	broad.mit.edu	37	8	113697844	113697844	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr8:113697844C>T	ENST00000297405.5	-	15	2517	c.2273G>A	c.(2272-2274)cGg>cAg	p.R758Q	CSMD3_ENST00000343508.3_Missense_Mutation_p.R718Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.R654Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.R758Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	758	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R758Q(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAGATGTATCCGGCTCCCTGG	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5		NA																	1	Substitution - Missense(1)	p.R758Q(1)	ovary(1)	breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(2272-2274)cGg>cAg		CUB and Sushi multiple domains 3							99.0	107.0	104.0					8																	113697844		2203	4299	6502	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113697844C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2273G>A	8.37:g.113697844C>T	ENSP00000297405:p.Arg758Gln	False	False	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	Somatic	0				CSMD3_ENST00000352409.3_Missense_Mutation_p.R758Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.R718Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.R654Q	p.R758Q	NM_198123.1	NP_937756.1	WXS	Illumina HiSeq	Phase_I	Q7Z407	CSMD3_HUMAN			15	2517	-			758			CUB 4.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.2273G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606831	0.87157	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27	5.96	5.96	0.96718	CUB (5);	0.000000	0.64402	D	0.000002	T	0.40297	0.1111	L	0.56199	1.76	0.43145	D	0.994906	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.994;0.998;0.999	T	0.00970	-1.1496	10	0.34782	T	0.22	.	20.4008	0.98991	0.0:1.0:0.0:0.0	.	654;758;718	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Q	718;758;98;654;758	ENSP00000345799:R718Q;ENSP00000297405:R758Q;ENSP00000341558:R98Q;ENSP00000412263:R654Q;ENSP00000343124:R758Q	ENSP00000297405:R758Q	R	-	2	0	CSMD3	113767020	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	CGG		0.413	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	0	NM_052900		8:113697844
CILP	8483	broad.mit.edu	37	15	65489559	65489559	+	Missense_Mutation	SNP	C	C	T	rs200825053		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr15:65489559C>T	ENST00000261883.4	-	9	3231	c.3065G>A	c.(3064-3066)cGc>cAc	p.R1022H		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	1022					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.R1022H(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CACCAGGGTGCGGTCCACACG	0.592																																						ENST00000261883.4		NA																	1	Substitution - Missense(1)	p.R1022H(1)	prostate(1)	breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						c.(3064-3066)cGc>cAc		cartilage intermediate layer protein, nucleotide pyrophosphohydrolase							103.0	70.0	81.0					15																	65489559		2202	4299	6501	SO:0001583	missense	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65489559C>T	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.3065G>A	15.37:g.65489559C>T	ENSP00000261883:p.Arg1022His	False	False		Somatic	0					p.R1022H	NM_003613.3	NP_003604	WXS	Illumina HiSeq	Phase_I	O75339	CILP1_HUMAN			9	3231	-			1022					B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.3065G>A	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166182	0.78339	.	.	ENSG00000138615	ENST00000261883	T	0.11277	2.79	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.36413	0.0966	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.08472	-1.0720	10	0.72032	D	0.01	-3.9489	18.4768	0.90795	0.0:1.0:0.0:0.0	.	1022	O75339	CILP1_HUMAN	H	1022	ENSP00000261883:R1022H	ENSP00000261883:R1022H	R	-	2	0	CILP	63276612	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.795000	0.85887	2.608000	0.88229	0.655000	0.94253	CGC		0.592	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	0	NM_003613		15:65489559
USP51	158880	broad.mit.edu	37	X	55515068	55515068	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chrX:55515068C>T	ENST00000500968.3	-	2	387	c.305G>A	c.(304-306)cGc>cAc	p.R102H	USP51_ENST00000586165.1_Intron	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	102	Pro-rich.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						gcggggCTTGCGGCGCGGGCA	0.761																																						ENST00000500968.3		NA																	0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						c.(304-306)cGc>cAc		ubiquitin specific peptidase 51							6.0	7.0	7.0					X																	55515068		2137	4143	6280	SO:0001583	missense	158880				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chrX:55515068C>T	BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.305G>A	X.37:g.55515068C>T	ENSP00000423333:p.Arg102His	False	False		Somatic	0				USP51_ENST00000586165.1_Intron	p.R102H	NM_201286.3	NP_958443.1	WXS	Illumina HiSeq	Phase_I	Q70EK9	UBP51_HUMAN			2	387	-			102			Pro-rich.		Q8IWJ8	Missense_Mutation	SNP	ENST00000500968.3	37	c.305G>A	CCDS14370.1	.	.	.	.	.	.	.	.	.	.	.	10.19	1.283264	0.23392	.	.	ENSG00000247746	ENST00000500968	T	0.10192	2.9	2.65	1.75	0.24633	.	0.980712	0.08228	U	0.978061	T	0.10252	0.0251	N	0.24115	0.695	0.26858	N	0.968015	P	0.52170	0.951	P	0.47044	0.535	T	0.29912	-0.9996	10	0.87932	D	0	.	6.2296	0.20728	0.2943:0.7057:0.0:0.0	.	102	Q70EK9	UBP51_HUMAN	H	102	ENSP00000423333:R102H	ENSP00000423333:R102H	R	-	2	0	USP51	55531793	0.994000	0.37717	0.972000	0.41901	0.020000	0.10135	0.821000	0.27338	0.514000	0.28300	0.502000	0.49764	CGC		0.761	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	0	NM_201286		X:55515068
ANKRD30A	91074	broad.mit.edu	37	10	37486356	37486356	+	Missense_Mutation	SNP	G	G	C			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr10:37486356G>C	ENST00000602533.1	+	29	2595	c.2496G>C	c.(2494-2496)aaG>aaC	p.K832N	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.K951N|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K832N			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	888					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAATGCAAAAGTCTGTTCCAA	0.308																																						ENST00000374660.1		NA																	0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(2851-2853)aaG>aaC		ankyrin repeat domain 30A							87.0	78.0	81.0					10																	37486356		1801	4060	5861	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37486356G>C	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.2496G>C	10.37:g.37486356G>C	ENSP00000473551:p.Lys832Asn	True	False		Somatic	0				ANKRD30A_ENST00000602533.1_Missense_Mutation_p.K832N|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K832N	p.K951N			WXS	Illumina HiSeq	Phase_I	Q9BXX3	AN30A_HUMAN			35	2952	+			1000					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.2853G>C		.	.	.	.	.	.	.	.	.	.	.	0.001	-3.321822	0.00018	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.05139	3.49;3.49	1.36	-2.73	0.05950	.	.	.	.	.	T	0.02230	0.0069	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41520	-0.9504	9	0.14252	T	0.57	.	0.0386	0.00007	0.2591:0.193:0.2234:0.3245	.	888	Q9BXX3	AN30A_HUMAN	N	832;951	ENSP00000354432:K832N;ENSP00000363792:K951N	ENSP00000354432:K832N	K	+	3	2	ANKRD30A	37526362	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	0.102000	0.15272	-2.701000	0.00398	-2.035000	0.00420	AAG		0.308	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	0	NM_052997		10:37486356
OR7D4	125958	broad.mit.edu	37	19	9324694	9324694	+	Missense_Mutation	SNP	C	C	T	rs373618218		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:9324694C>T	ENST00000308682.2	-	1	848	c.820G>A	c.(820-822)Gcc>Acc	p.A274T		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						ATCACTGAGGCGGTGGAGCTG	0.552																																						ENST00000308682.2		NA																	0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						c.(820-822)Gcc>Acc		olfactory receptor, family 7, subfamily D, member 4		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	71.0	63.0	65.0		820	2.4	0.4	19		65	0,8600		0,0,4300	no	missense	OR7D4	NM_001005191.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	274/313	9324694	1,13005	2203	4300	6503	SO:0001583	missense	125958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9324694C>T		CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"""GPCR / Class A : Olfactory receptors"""	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.820G>A	19.37:g.9324694C>T	ENSP00000310488:p.Ala274Thr	False	False		Somatic	0					p.A274T	NM_001005191.2	NP_001005191.1	WXS	Illumina HiSeq	Phase_I	Q8NG98	OR7D4_HUMAN			1	848	-			274					A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Missense_Mutation	SNP	ENST00000308682.2	37	c.820G>A	CCDS32901.1	.	.	.	.	.	.	.	.	.	.	C	5.291	0.239022	0.10023	2.27E-4	0.0	ENSG00000174667	ENST00000308682	T	0.38077	1.16	3.49	2.44	0.29823	GPCR, rhodopsin-like superfamily (1);	0.112635	0.39759	N	0.001267	T	0.34395	0.0896	M	0.70842	2.15	0.09310	N	1	B	0.27765	0.188	B	0.31290	0.127	T	0.34502	-0.9826	10	0.59425	D	0.04	.	5.1087	0.14798	0.0:0.665:0.2133:0.1217	.	274	Q8NG98	OR7D4_HUMAN	T	274	ENSP00000310488:A274T	ENSP00000310488:A274T	A	-	1	0	OR7D4	9185694	0.000000	0.05858	0.371000	0.25978	0.046000	0.14306	-0.229000	0.09098	0.831000	0.34780	0.205000	0.17691	GCC		0.552	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1	0			19:9324694
ADAM20	8748	broad.mit.edu	37	14	70991279	70991279	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:70991279G>A	ENST00000256389.3	-	2	590	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	66					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		CCCCCAAACCGCAGGCTATAG	0.527																																						ENST00000256389.3		NA																	0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27						c.(346-348)Cgg>Tgg		ADAM metallopeptidase domain 20							112.0	86.0	95.0					14																	70991279		2203	4300	6503	SO:0001583	missense	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70991279G>A	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.346C>T	14.37:g.70991279G>A	ENSP00000256389:p.Arg116Trp	False	False		Somatic	0				RP11-486O13.4_ENST00000556646.1_lincRNA	p.R116W	NM_003814.4	NP_003805.3	WXS	Illumina HiSeq	Phase_I	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	590	-			66					Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	c.346C>T	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	G	2.877	-0.232779	0.05983	.	.	ENSG00000134007	ENST00000256389	T	0.07216	3.21	4.14	-1.25	0.09405	Peptidase M12B, propeptide (1);	0.844512	0.09575	U	0.783660	T	0.07369	0.0186	L	0.54323	1.7	0.09310	N	1	B	0.26602	0.154	B	0.24269	0.052	T	0.40794	-0.9544	10	0.59425	D	0.04	.	1.3442	0.02160	0.2309:0.1227:0.4097:0.2367	.	66	O43506	ADA20_HUMAN	W	116	ENSP00000256389:R116W	ENSP00000256389:R116W	R	-	1	2	ADAM20	70061032	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-0.996000	0.03709	-0.123000	0.11745	0.650000	0.86243	CGG		0.527	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2	0			14:70991279
DPP3	10072	broad.mit.edu	37	11	66260292	66260292	+	Missense_Mutation	SNP	A	A	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:66260292A>T	ENST00000360510.2	+	10	1159	c.1094A>T	c.(1093-1095)aAg>aTg	p.K365M	DPP3_ENST00000541961.1_Missense_Mutation_p.K365M|DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000532677.1_Missense_Mutation_p.K384M|DPP3_ENST00000531863.1_Missense_Mutation_p.K385M|DPP3_ENST00000530165.1_Missense_Mutation_p.K335M|DPP3_ENST00000453114.1_Missense_Mutation_p.K365M			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	365					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						ACCTTTGAGAAGGACAAGTTC	0.597																																						ENST00000532677.1		NA																	0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						c.(1150-1152)aAg>aTg		dipeptidyl-peptidase 3							92.0	91.0	92.0					11																	66260292		2200	4295	6495	SO:0001583	missense	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66260292A>T	AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.1094A>T	11.37:g.66260292A>T	ENSP00000353701:p.Lys365Met	False	False		Somatic	0				DPP3_ENST00000530165.1_Missense_Mutation_p.K335M|DPP3_ENST00000541961.1_Missense_Mutation_p.K365M|DPP3_ENST00000453114.1_Missense_Mutation_p.K365M|DPP3_ENST00000531863.1_Missense_Mutation_p.K385M|DPP3_ENST00000360510.2_Missense_Mutation_p.K365M|DPP3_ENST00000533799.1_3'UTR	p.K384M	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	WXS	Illumina HiSeq	Phase_I	Q9NY33	DPP3_HUMAN			10	1552	+			365					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	ENST00000360510.2	37	c.1151A>T	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.816240	0.90790	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000543807	T;T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67;1.67	5.41	5.41	0.78517	.	0.094343	0.64402	D	0.000001	T	0.62060	0.2397	M	0.90082	3.085	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.70733	-0.4791	10	0.87932	D	0	.	13.4157	0.60968	1.0:0.0:0.0:0.0	.	384;365	G3V1D3;Q9NY33	.;DPP3_HUMAN	M	385;384;365;365;365;335;263	ENSP00000432782:K385M;ENSP00000435284:K384M;ENSP00000353701:K365M;ENSP00000389943:K365M;ENSP00000440502:K365M;ENSP00000436941:K335M	ENSP00000353701:K365M	K	+	2	0	DPP3	66016868	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.519000	0.90563	2.052000	0.61016	0.533000	0.62120	AAG		0.597	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2	0			11:66260292
PTPLAD1	51495	broad.mit.edu	37	15	65822970	65822970	+	Start_Codon_SNP	SNP	A	A	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr15:65822970A>T	ENST00000261875.5	+	1	167	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	PTPLAD1_ENST00000442729.2_Start_Codon_SNP_p.M1L|PTPLAD1_ENST00000565299.1_Start_Codon_SNP_p.M1L|PTPLAD1_ENST00000568793.1_Start_Codon_SNP_p.M1L|PTPLAD1_ENST00000562901.1_De_novo_Start_OutOfFrame|PTPLAD1_ENST00000566074.1_5'Flank|PTPLAD1_ENST00000566511.1_5'Flank	NM_016395.2	NP_057479.2	Q9P035	HACD3_HUMAN	protein tyrosine phosphatase-like A domain containing 1	1					activation of JUN kinase activity (GO:0007257)|fatty acid biosynthetic process (GO:0006633)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|positive regulation of GTPase activity (GO:0043547)|Rac protein signal transduction (GO:0016601)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)	GTPase activator activity (GO:0005096)|lyase activity (GO:0016829)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CAGTGTGGCCATGGAGAATCA	0.637																																						ENST00000562901.1		NA																	0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1)	5								protein tyrosine phosphatase-like A domain containing 1							22.0	29.0	27.0					15																	65822970		2034	4178	6212	SO:0001582	initiator_codon_variant	51495				activation of JUN kinase activity|fatty acid biosynthetic process|I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction	endoplasmic reticulum membrane|integral to membrane	GTPase activator activity|lyase activity|protein binding	g.chr15:65822970A>T		CCDS45282.1	15q22.2	2005-11-11				ENSG00000074696			24175	protein-coding gene	gene with protein product		615940				10747961, 11042152	Standard	NM_016395		Approved	B-ind1, HSPC121	uc002apc.3	Q9P035		ENST00000261875.5:c.1A>T	15.37:g.65822970A>T	ENSP00000261875:p.Met1Leu	False	False		Somatic	0				PTPLAD1_ENST00000261875.5_Start_Codon_SNP_p.M1L|PTPLAD1_ENST00000442729.2_Start_Codon_SNP_p.M1L|PTPLAD1_ENST00000565299.1_Start_Codon_SNP_p.M1L|PTPLAD1_ENST00000568793.1_Start_Codon_SNP_p.M1L				WXS	Illumina HiSeq	Phase_I	Q9P035	HACD3_HUMAN			0	215	+			NA					A0PJA1|B4DRF4|Q280Z3|Q6PD63|Q8IUI5|Q8NC86|Q8NCB1|Q96T12|Q9NQA7	Translation_Start_Site	SNP	ENST00000261875.5	37		CCDS45282.1	.	.	.	.	.	.	.	.	.	.	A	32	5.136982	0.94517	.	.	ENSG00000074696	ENST00000442729;ENST00000261875	T;T	0.08458	3.09;3.1	4.83	4.83	0.62350	.	0.107189	0.64402	D	0.000005	T	0.14399	0.0348	.	.	.	0.80722	D	1	B;P	0.35745	0.067;0.518	B;P	0.44647	0.014;0.456	T	0.01172	-1.1429	9	0.87932	D	0	1.7663	10.7264	0.46070	1.0:0.0:0.0:0.0	.	1;1	B4DRF4;Q9P035	.;HACD3_HUMAN	L	1	ENSP00000392491:M1L;ENSP00000261875:M1L	ENSP00000261875:M1L	M	+	1	0	PTPLAD1	63610023	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	4.391000	0.59652	2.036000	0.60181	0.477000	0.44152	ATG		0.637	PTPLAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419739.1	0	NM_016395	Missense_Mutation	15:65822970
MRPL34	64981	broad.mit.edu	37	19	17417119	17417119	+	Silent	SNP	G	G	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:17417119G>T	ENST00000252602.1	+	2	435	c.210G>T	c.(208-210)ctG>ctT	p.L70L	MRPL34_ENST00000602206.1_Nonstop_Mutation_p.*37L|MRPL34_ENST00000594999.1_Silent_p.L70L|MRPL34_ENST00000595444.1_Silent_p.L162L|MRPL34_ENST00000600434.1_Silent_p.L70L|ABHD8_ENST00000247706.3_5'Flank	NM_023937.3	NP_076426.1	Q9BQ48	RM34_HUMAN	mitochondrial ribosomal protein L34	70					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			endometrium(1)|lung(1)	2						TCCGGCGCCTGAGCACGCCGG	0.672																																						ENST00000602206.1		NA																	0				endometrium(1)|lung(1)	2						c.(109-111)tGa>tTa		mitochondrial ribosomal protein L34							9.0	13.0	12.0					19																	17417119		2168	4231	6399	SO:0001819	synonymous_variant	64981				translation		structural constituent of ribosome	g.chr19:17417119G>T	AB049652	CCDS12356.1	19p13.1	2012-09-13						"""Mitochondrial ribosomal proteins / large subunits"""	14488	protein-coding gene	gene with protein product		611840				11543634	Standard	NM_023937		Approved	L34mt, MGC2633, MGC24974	uc002ngc.1	Q9BQ48		ENST00000252602.1:c.210G>T	19.37:g.17417119G>T		False	False		Somatic	0				MRPL34_ENST00000252602.1_Silent_p.L70L|MRPL34_ENST00000595444.1_Silent_p.L162L|MRPL34_ENST00000594999.1_Silent_p.L70L|MRPL34_ENST00000600434.1_Silent_p.L70L	p.*37L			WXS	Illumina HiSeq	Phase_I	Q9BQ48	RM34_HUMAN			2	131	+			0						Nonstop_Mutation	SNP	ENST00000252602.1	37	c.110G>T	CCDS12356.1																																																																																				0.672	MRPL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463516.1	0	NM_023937		19:17417119
SCML1	6322	broad.mit.edu	37	X	17770059	17770059	+	Silent	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chrX:17770059C>T	ENST00000380041.3	+	7	1156	c.828C>T	c.(826-828)tgC>tgT	p.C276C	SCML1_ENST00000380043.3_Silent_p.C249C|SCML1_ENST00000380045.3_Silent_p.C155C|SCML1_ENST00000398080.1_Silent_p.C155C	NM_001037540.1	NP_001032629.1	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	276	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					TTGCATTATGCCCTCTTGTCG	0.448																																						ENST00000380043.3		NA																	0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10						c.(745-747)tgC>tgT		sex comb on midleg-like 1 (Drosophila)							377.0	317.0	337.0					X																	17770059		2203	4300	6503	SO:0001819	synonymous_variant	6322				anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:17770059C>T		CCDS14182.2, CCDS35210.1, CCDS35211.1	Xp22	2013-01-10	2001-11-28		ENSG00000047634	ENSG00000047634		"""Sterile alpha motif (SAM) domain containing"""	10580	protein-coding gene	gene with protein product		300227	"""sex comb on midleg (Drosophila)-like 1"""			9570953	Standard	XM_005274578		Approved		uc004cyc.3	Q9UN30	OTTHUMG00000021206	ENST00000380041.3:c.828C>T	X.37:g.17770059C>T		True	False		Somatic	0				SCML1_ENST00000398080.1_Silent_p.C155C|SCML1_ENST00000380045.3_Silent_p.C155C|SCML1_ENST00000380041.3_Silent_p.C276C	p.C249C	NM_006746.4	NP_006737.2	WXS	Illumina HiSeq	Phase_I	Q9UN30	SCML1_HUMAN			6	1075	+	Hepatocellular(33;0.183)		276					B0FZN6|B2RA08|Q5H968|Q5H969	Silent	SNP	ENST00000380041.3	37	c.747C>T	CCDS35210.1																																																																																				0.448	SCML1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060495.5	0	NM_006746		X:17770059
HIF3A	64344	broad.mit.edu	37	19	46825050	46825050	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:46825050A>G	ENST00000377670.4	+	10	1193	c.1162A>G	c.(1162-1164)Atc>Gtc	p.I388V	HIF3A_ENST00000600383.1_Missense_Mutation_p.I319V|HIF3A_ENST00000420102.2_Missense_Mutation_p.I337V|HIF3A_ENST00000339613.2_Missense_Mutation_p.I332V|HIF3A_ENST00000244303.6_Missense_Mutation_p.I319V|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000472815.1_Missense_Mutation_p.I319V|HIF3A_ENST00000300862.3_Missense_Mutation_p.I386V	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	388					cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		TGGCCCCCGGATCCTTGCCTT	0.682																																						ENST00000339613.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33						c.(994-996)Atc>Gtc		hypoxia inducible factor 3, alpha subunit							55.0	67.0	63.0					19																	46825050		2203	4300	6503	SO:0001583	missense	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46825050A>G	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.1162A>G	19.37:g.46825050A>G	ENSP00000366898:p.Ile388Val	False	False		Somatic	0				HIF3A_ENST00000472815.1_Missense_Mutation_p.I319V|HIF3A_ENST00000300862.3_Missense_Mutation_p.I386V|HIF3A_ENST00000420102.2_Missense_Mutation_p.I337V|HIF3A_ENST00000377670.4_Missense_Mutation_p.I388V|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000600383.1_Missense_Mutation_p.I319V|HIF3A_ENST00000244303.6_Missense_Mutation_p.I319V	p.I332V			WXS	Illumina HiSeq	Phase_I	Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	10	1249	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	388					B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	ENST00000377670.4	37	c.994A>G	CCDS12681.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.499|6.499	0.460253|0.460253	0.12342|0.12342	.|.	.|.	ENSG00000124440|ENSG00000124440	ENST00000472815|ENST00000244302;ENST00000377670;ENST00000244303;ENST00000339613;ENST00000291300;ENST00000300862;ENST00000420102	.|T;T;T;T;T	.|0.64803	.|0.63;-0.11;0.51;0.63;-0.12	4.43|4.43	3.42|3.42	0.39159|0.39159	.|.	.|1.554280	.|0.03882	.|N	.|0.277189	T|T	0.53351|0.53351	0.1791|0.1791	N|N	0.24115|0.24115	0.695|0.695	0.24933|0.24933	N|N	0.991907|0.991907	.|B;B;B;P;B;B;B	.|0.48350	.|0.074;0.048;0.119;0.909;0.073;0.073;0.024	.|B;B;B;P;B;B;B	.|0.48304	.|0.062;0.048;0.067;0.573;0.031;0.031;0.01	T|T	0.43686|0.43686	-0.9376|-0.9376	5|10	.|0.11182	.|T	.|0.66	.|.	6.4511|6.4511	0.21903|0.21903	0.8903:0.0:0.1097:0.0|0.8903:0.0:0.1097:0.0	.|.	.|337;319;386;337;332;388;388	.|F5H884;B4DNA2;Q9Y2N7-2;B4DSD9;A8MPQ1;Q9Y2N7;B0M185	.|.;.;.;.;.;HIF3A_HUMAN;.	G|V	360|388;388;319;332;332;386;337	.|ENSP00000366898:I388V;ENSP00000244303:I319V;ENSP00000341877:I332V;ENSP00000300862:I386V;ENSP00000407771:I337V	.|ENSP00000244302:I388V	D|I	+|+	2|1	0|0	HIF3A|HIF3A	51516890|51516890	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.473000|0.473000	0.32948|0.32948	0.753000|0.753000	0.26376|0.26376	0.874000|0.874000	0.35823|0.35823	0.533000|0.533000	0.62120|0.62120	GAT|ATC		0.682	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3	0			19:46825050
PMFBP1	83449	broad.mit.edu	37	16	72170640	72170640	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr16:72170640G>A	ENST00000237353.10	-	8	1258	c.997C>T	c.(997-999)Cgc>Tgc	p.R333C	PMFBP1_ENST00000537465.1_Missense_Mutation_p.R333C|PMFBP1_ENST00000355636.6_Missense_Mutation_p.R188C	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	333						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				AGTTCCACGCGCAGATCCTTC	0.552																																						ENST00000537465.1		NA																	0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45						c.(997-999)Cgc>Tgc		polyamine modulated factor 1 binding protein 1							99.0	82.0	87.0					16																	72170640		2198	4300	6498	SO:0001583	missense	83449							g.chr16:72170640G>A	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.997C>T	16.37:g.72170640G>A	ENSP00000237353:p.Arg333Cys	False	False		Somatic	0				PMFBP1_ENST00000237353.10_Missense_Mutation_p.R333C|PMFBP1_ENST00000355636.6_Missense_Mutation_p.R188C	p.R333C			WXS	Illumina HiSeq	Phase_I	Q8TBY8	PMFBP_HUMAN			8	1155	-		Ovarian(137;0.179)	333					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000237353.10	37	c.997C>T	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.375346	0.61735	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	T;T;T	0.19250	2.18;2.19;2.16	4.85	1.33	0.21861	.	0.554792	0.13865	N	0.357364	T	0.33440	0.0863	L	0.36672	1.1	0.42002	D	0.990895	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.83275	0.996;0.881;0.996	T	0.07121	-1.0789	10	0.59425	D	0.04	-1.6358	10.8676	0.46864	0.0:0.0:0.3296:0.6704	.	333;333;333	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	C	333;333;188	ENSP00000443817:R333C;ENSP00000237353:R333C;ENSP00000347854:R188C	ENSP00000237353:R333C	R	-	1	0	PMFBP1	70728141	0.994000	0.37717	0.976000	0.42696	0.795000	0.44927	0.773000	0.26661	0.403000	0.25479	0.563000	0.77884	CGC		0.552	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	0	NM_031293		16:72170640
HERC2P3	283755	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463																																						ENST00000428453.1		NA																	4	Substitution - Missense(4)	p.A803V(4)	lung(3)|endometrium(1)	central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															116.0	62.0	82.0					15																	20644850		1509	2699	4208			0							g.chr15:20644850G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644850G>A		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	3097	-			NA						RNA	SNP	ENST00000428453.1	37																																																																																						0.463	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	0	NG_008269		15:20644850
MEFV	4210	broad.mit.edu	37	16	3299648	3299648	+	Missense_Mutation	SNP	C	C	T	rs104895198		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr16:3299648C>T	ENST00000219596.1	-	3	1082	c.1043G>A	c.(1042-1044)cGc>cAc	p.R348H	MEFV_ENST00000536379.1_Missense_Mutation_p.R137H|MEFV_ENST00000339854.4_Missense_Mutation_p.R168H|MEFV_ENST00000541159.1_Missense_Mutation_p.R137H	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	348					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.R348H(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GCCAGGTGAGCGGCTGCCTGA	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		16808	0.0		0.0	False		,,,				2504	0.001					ENST00000219596.1		NA																	1	Substitution - Missense(1)	p.R348H(1)	ovary(1)	NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(1042-1044)cGc>cAc		Mediterranean fever	Colchicine(DB01394)	C	HIS/ARG,HIS/ARG	1,4391	2.1+/-5.4	0,1,2195	25.0	28.0	27.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1043,410	-8.2	0.0	16	dbSNP_132	27	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	MEFV	NM_000243.2,NM_001198536.1	29,29	0,4,6492	TT,TC,CC		0.0349,0.0228,0.0308	possibly-damaging,possibly-damaging	348/782,137/446	3299648	4,12988	2196	4300	6496	SO:0001583	missense	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3299648C>T	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1043G>A	16.37:g.3299648C>T	ENSP00000219596:p.Arg348His	False	False		Somatic	0				MEFV_ENST00000541159.1_Missense_Mutation_p.R137H|MEFV_ENST00000536379.1_Missense_Mutation_p.R137H|MEFV_ENST00000339854.4_Missense_Mutation_p.R168H	p.R348H	NM_000243.2	NP_000234.1	WXS	Illumina HiSeq	Phase_I	O15553	MEFV_HUMAN			3	1082	-			348					D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	c.1043G>A	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	C	5.370	0.253552	0.10185	2.28E-4	3.49E-4	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	T;T;T;T	0.64618	-0.11;0.32;0.22;0.33	4.11	-8.23	0.01033	.	2.533260	0.01059	N	0.004617	T	0.41971	0.1182	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.43410	-0.9393	10	0.33141	T	0.24	-27.6587	14.814	0.70017	0.0:0.7071:0.1089:0.184	.	348	O15553	MEFV_HUMAN	H	348;348;168;137;137;137	ENSP00000219596:R348H;ENSP00000339639:R168H;ENSP00000438711:R137H;ENSP00000445079:R137H	ENSP00000219596:R348H	R	-	2	0	MEFV	3239649	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.762000	0.00373	-2.922000	0.00304	-0.251000	0.11542	CGC		0.657	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	0	NM_000243		16:3299648
LAIR1	3903	broad.mit.edu	37	19	54872775	54872775	+	Missense_Mutation	SNP	C	C	T	rs202185118		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:54872775C>T	ENST00000391742.2	-	3	264	c.112G>A	c.(112-114)Gtg>Atg	p.V38M	LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000434277.2_Missense_Mutation_p.V37M|LAIR1_ENST00000313038.6_Missense_Mutation_p.V31M|LAIR1_ENST00000474878.1_Missense_Mutation_p.V37M|LAIR1_ENST00000391743.3_Missense_Mutation_p.V20M|LAIR1_ENST00000348231.4_Missense_Mutation_p.V38M			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	38	Ig-like C2-type.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		AGGGGGATCACGGTGCCTGGC	0.582																																						ENST00000391743.3		NA																	0				breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26						c.(58-60)Gtg>Atg		leukocyte-associated immunoglobulin-like receptor 1		C	MET/VAL,MET/VAL	2,4404		0,2,2201	100.0	106.0	104.0		112,112	-1.8	0.0	19		104	1,8599		0,1,4299	yes	missense,missense	LAIR1	NM_002287.3,NM_021706.2	21,21	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	benign,benign	38/288,38/271	54872775	3,13003	2203	4300	6503	SO:0001583	missense	3903					integral to membrane|plasma membrane	protein binding|receptor activity	g.chr19:54872775C>T	AF013249	CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167613	ENSG00000167613		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6477	protein-coding gene	gene with protein product		602992	"""leukocyte-associated Ig-like receptor 1"""			9285412	Standard	XM_005258924		Approved	CD305	uc002qfk.1	Q6GTX8	OTTHUMG00000065545	ENST00000391742.2:c.112G>A	19.37:g.54872775C>T	ENSP00000375622:p.Val38Met	False	False		Somatic	0				LAIR1_ENST00000474878.1_Missense_Mutation_p.V37M|LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000434277.2_Missense_Mutation_p.V37M|LAIR1_ENST00000391742.2_Missense_Mutation_p.V38M|LAIR1_ENST00000313038.6_Missense_Mutation_p.V31M|LAIR1_ENST00000348231.4_Missense_Mutation_p.V38M	p.V20M			WXS	Illumina HiSeq	Phase_I	Q6GTX8	LAIR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0573)	2	338	-	Ovarian(34;0.19)		38						Missense_Mutation	SNP	ENST00000391742.2	37	c.58G>A	CCDS12891.1	.	.	.	.	.	.	.	.	.	.	.	13.40	2.225204	0.39300	4.54E-4	1.16E-4	ENSG00000167613	ENST00000391743;ENST00000391742;ENST00000434277;ENST00000348231;ENST00000313038;ENST00000474878;ENST00000438193	T;T;T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48;2.48;5.55	3.16	-1.77	0.07982	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.038110	0.07680	N	0.936945	T	0.22781	0.0550	M	0.72353	2.195	0.09310	N	1	P;B;B;P;P;P	0.49696	0.628;0.448;0.436;0.927;0.626;0.673	B;B;B;P;B;B	0.52554	0.267;0.266;0.118;0.702;0.097;0.323	T	0.28396	-1.0045	10	0.35671	T	0.21	.	6.5499	0.22427	0.0:0.5255:0.0:0.4745	.	38;20;37;37;38;38	Q6GTX8-4;A8MZ84;Q6GTX8-3;D3YTC8;Q6GTX8-2;Q6GTX8	.;.;.;.;.;LAIR1_HUMAN	M	20;38;37;38;31;37;32	ENSP00000375623:V20M;ENSP00000375622:V38M;ENSP00000391003:V37M;ENSP00000301193:V38M;ENSP00000319204:V31M;ENSP00000418998:V37M;ENSP00000392058:V32M	ENSP00000319204:V31M	V	-	1	0	LAIR1	59564587	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.630000	0.05502	-0.205000	0.10219	-0.210000	0.12710	GTG		0.582	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140506.1	0			19:54872775
LTBP2	4053	broad.mit.edu	37	14	74969572	74969572	+	Missense_Mutation	SNP	G	G	A	rs142182623	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:74969572G>A	ENST00000261978.4	-	34	5340	c.4954C>T	c.(4954-4956)Cgg>Tgg	p.R1652W	LTBP2_ENST00000556690.1_Missense_Mutation_p.R1608W	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1652					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TAGCCTGGCCGGAAGTGGACC	0.632													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18329	0.0		0.001	False		,,,				2504	0.0					ENST00000261978.4		NA																	0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(4954-4956)Cgg>Tgg		latent transforming growth factor beta binding protein 2		G	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	46.0	52.0	50.0		4954	5.0	1.0	14	dbSNP_134	50	0,8600		0,0,4300	yes	missense	LTBP2	NM_000428.2	101	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	1652/1822	74969572	2,13004	2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74969572G>A		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.4954C>T	14.37:g.74969572G>A	ENSP00000261978:p.Arg1652Trp	False	False		Somatic	0				LTBP2_ENST00000556690.1_Missense_Mutation_p.R1608W	p.R1652W	NM_000428.2	NP_000419.1	WXS	Illumina HiSeq	Phase_I	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	34	5340	-			1652					Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.4954C>T	CCDS9831.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	G	21.4	4.148204	0.78001	4.54E-4	0.0	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.79141	-1.24;-1.24	5.04	5.04	0.67666	.	0.000000	0.38217	N	0.001768	T	0.81039	0.4740	L	0.32530	0.975	0.38329	D	0.943745	D	0.89917	1.0	D	0.91635	0.999	T	0.83233	-0.0062	10	0.66056	D	0.02	.	11.1565	0.48491	0.0:0.0:0.7663:0.2337	.	1652	Q14767	LTBP2_HUMAN	W	1652;1608	ENSP00000261978:R1652W;ENSP00000451477:R1608W	ENSP00000261978:R1652W	R	-	1	2	LTBP2	74039325	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.443000	0.59994	2.610000	0.88304	0.561000	0.74099	CGG		0.632	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	0	NM_000428		14:74969572
IYD	389434	broad.mit.edu	37	6	150715311	150715311	+	Missense_Mutation	SNP	G	G	A	rs377381152		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr6:150715311G>A	ENST00000344419.3	+	4	747	c.607G>A	c.(607-609)Gca>Aca	p.A203T	IYD_ENST00000425615.3_Missense_Mutation_p.A148T|IYD_ENST00000229447.5_Missense_Mutation_p.A203T|IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000392256.2_Missense_Mutation_p.A203T	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	203					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	iodide peroxidase activity (GO:0004447)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		TGGTTTCGCCGCAAATGGCAA	0.433																																						ENST00000344419.3		NA																	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(607-609)Gca>Aca		iodotyrosine deiodinase		A	THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	122.0	109.0	113.0		607,607,607	2.1	0.0	6		113	0,8600		0,0,4300	no	missense,missense,missense	IYD	NM_001164694.1,NM_001164695.1,NM_203395.2	58,58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	203/294,203/248,203/290	150715311	1,13005	2203	4300	6503	SO:0001583	missense	389434				cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane		g.chr6:150715311G>A	AK129950	CCDS5227.1, CCDS55066.1, CCDS55067.1	6q25.1	2006-08-24	2006-08-24	2006-08-24	ENSG00000009765	ENSG00000009765			21071	protein-coding gene	gene with protein product		612025	"""chromosome 6 open reading frame 71"""	C6orf71		16316988, 15289438	Standard	NM_001164694		Approved	dJ422F24.1, DEHAL1	uc003qnx.2	Q6PHW0	OTTHUMG00000016347	ENST00000344419.3:c.607G>A	6.37:g.150715311G>A	ENSP00000343763:p.Ala203Thr	False	False		Somatic	0				IYD_ENST00000392256.2_Missense_Mutation_p.A203T|IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000425615.3_Missense_Mutation_p.A148T|IYD_ENST00000229447.5_Missense_Mutation_p.A203T	p.A203T	NM_203395.2	NP_981932.1	WXS	Illumina HiSeq	Phase_I	Q6PHW0	IYD1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)	4	747	+		Ovarian(120;0.028)	203					C9JFW2|Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8	Missense_Mutation	SNP	ENST00000344419.3	37	c.607G>A	CCDS5227.1	.	.	.	.	.	.	.	.	.	.	g	5.689	0.311597	0.10789	2.27E-4	0.0	ENSG00000009765	ENST00000229447;ENST00000344419;ENST00000392256;ENST00000392255;ENST00000500320;ENST00000425615	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	6.17	2.1	0.27182	Nitroreductase-like (3);	0.509560	0.22264	N	0.062376	T	0.43055	0.1230	L	0.46885	1.475	0.09310	N	1	B;B;B;B	0.20261	0.004;0.043;0.001;0.002	B;B;B;B	0.18561	0.003;0.022;0.001;0.005	T	0.24548	-1.0157	10	0.27785	T	0.31	-23.7178	1.2452	0.01971	0.2372:0.2256:0.3896:0.1475	.	121;203;203;203	Q2VPV9;C9JFW2;Q6PHW0-3;Q6PHW0	.;.;.;IYD1_HUMAN	T	203;203;203;203;203;148	ENSP00000229447:A203T;ENSP00000343763:A203T;ENSP00000376085:A203T;ENSP00000376084:A203T;ENSP00000441276:A203T;ENSP00000390081:A148T	ENSP00000229447:A203T	A	+	1	0	IYD	150757004	0.019000	0.18553	0.001000	0.08648	0.174000	0.22865	0.255000	0.18333	0.496000	0.27904	-0.119000	0.15052	GCA		0.433	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043754.3	0	NM_203395		6:150715311
CREBBP	1387	broad.mit.edu	37	16	3824628	3824628	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr16:3824628C>A	ENST00000262367.5	-	12	3034	c.2225G>T	c.(2224-2226)cGt>cTt	p.R742L	CREBBP_ENST00000382070.3_Missense_Mutation_p.R704L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	742					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGAGGCTGCACGAGGTCCCAT	0.522			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5		NA		Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(2224-2226)cGt>cTt		CREB binding protein							151.0	119.0	130.0					16																	3824628		2197	4300	6497	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3824628C>A	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.2225G>T	16.37:g.3824628C>A	ENSP00000262367:p.Arg742Leu	False	False		Somatic	0				CREBBP_ENST00000382070.3_Missense_Mutation_p.R704L	p.R742L	NM_004380.2	NP_004371.2	WXS	Illumina HiSeq	Phase_I	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	12	3034	-		Ovarian(90;0.0266)	742					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.2225G>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333841	0.81801	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.84070	-1.8;-1.74	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.88952	0.6577	L	0.56280	1.765	0.80722	D	1	D;D	0.89917	1.0;0.976	D;P	0.73380	0.98;0.901	D	0.88209	0.2889	10	0.44086	T	0.13	-18.4109	18.3882	0.90473	0.0:1.0:0.0:0.0	.	772;742	Q4LE28;Q92793	.;CBP_HUMAN	L	742;772;704	ENSP00000262367:R742L;ENSP00000371502:R704L	ENSP00000262367:R742L	R	-	2	0	CREBBP	3764629	1.000000	0.71417	0.203000	0.23512	0.964000	0.63967	6.965000	0.76067	2.663000	0.90544	0.557000	0.71058	CGT		0.522	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	0	NM_004380		16:3824628
NR2F1	7025	broad.mit.edu	37	5	92921011	92921011	+	Silent	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr5:92921011C>T	ENST00000327111.3	+	1	1969	c.282C>T	c.(280-282)agC>agT	p.S94S	NR2F1-AS1_ENST00000513055.1_RNA	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	94					cerebral cortex regionalization (GO:0021796)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|retinoic acid-responsive element binding (GO:0044323)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		ACAAGTCGAGCGGCAAGCACT	0.642																																						ENST00000327111.3		NA																	0				NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(280-282)agC>agT		nuclear receptor subfamily 2, group F, member 1							30.0	27.0	28.0					5																	92921011		2203	4300	6503	SO:0001819	synonymous_variant	7025				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr5:92921011C>T	BC004154	CCDS4068.1	5q14	2013-01-16			ENSG00000175745	ENSG00000175745		"""Nuclear hormone receptors"""	7975	protein-coding gene	gene with protein product		132890		ERBAL3, TFCOUP1		8530078	Standard	NM_005654		Approved	EAR-3, COUP-TFI, TCFCOUP1, SVP44	uc003kkj.3	P10589	OTTHUMG00000119079	ENST00000327111.3:c.282C>T	5.37:g.92921011C>T		False	False		Somatic	0				NR2F1-AS1_ENST00000513055.1_RNA	p.S94S	NM_005654.4	NP_005645.1	WXS	Illumina HiSeq	Phase_I	P10589	COT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)	1	1969	+		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)	94						Silent	SNP	ENST00000327111.3	37	c.282C>T	CCDS4068.1																																																																																				0.642	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	0	NM_005654		5:92921011
PPP1R1C	151242	broad.mit.edu	37	2	182850872	182850872	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:182850872C>T	ENST00000409137.3	+	1	278	c.35C>T	c.(34-36)gCc>gTc	p.A12V	PPP1R1C_ENST00000280295.3_Missense_Mutation_p.A12V|PPP1R1C_ENST00000475249.1_Intron|PPP1R1C_ENST00000452904.1_Missense_Mutation_p.A12V|PPP1R1C_ENST00000409702.1_Missense_Mutation_p.A12V	NM_001261424.1|NM_001261425.1	NP_001248353.1|NP_001248354.1	Q8WVI7	PPR1C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1C	12					cell cycle (GO:0007049)|cell division (GO:0051301)|negative regulation of catalytic activity (GO:0043086)|positive regulation of cell growth (GO:0030307)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0628)			ATACAGTTTGCCGTGCCTGTA	0.448																																						ENST00000409137.3		NA																	0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)	6						c.(34-36)gCc>gTc		protein phosphatase 1, regulatory (inhibitor) subunit 1C							150.0	144.0	146.0					2																	182850872		2010	4183	6193	SO:0001583	missense	151242				signal transduction	cytoplasm	protein phosphatase inhibitor activity	g.chr2:182850872C>T	AF494535, BC017943	CCDS46468.1, CCDS58740.1	2q31.3	2012-04-17			ENSG00000150722	ENSG00000150722		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14940	protein-coding gene	gene with protein product		613240				11948623	Standard	NM_001261424		Approved	Inhibitor-1-like	uc010frm.2	Q8WVI7	OTTHUMG00000154326	ENST00000409137.3:c.35C>T	2.37:g.182850872C>T	ENSP00000386359:p.Ala12Val	False	False		Somatic	0				PPP1R1C_ENST00000409702.1_Missense_Mutation_p.A12V|PPP1R1C_ENST00000280295.3_Missense_Mutation_p.A12V|PPP1R1C_ENST00000475249.1_Intron|PPP1R1C_ENST00000452904.1_Missense_Mutation_p.A12V	p.A12V	NM_001261424.1|NM_001261425.1	NP_001248353.1|NP_001248354.1	WXS	Illumina HiSeq	Phase_I	Q8WVI7	PPR1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0628)		1	278	+			12					Q5HYJ5|Q8TD54	Missense_Mutation	SNP	ENST00000409137.3	37	c.35C>T	CCDS46468.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558951	0.86231	.	.	ENSG00000150722	ENST00000452904;ENST00000409137;ENST00000280295;ENST00000409702	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	5.87	5.87	0.94306	.	0.053176	0.85682	D	0.000000	T	0.49304	0.1549	M	0.69823	2.125	0.58432	D	0.99999	P;P	0.48503	0.911;0.834	P;P	0.50896	0.642;0.653	T	0.46857	-0.9161	10	0.72032	D	0.01	-13.2258	20.5827	0.99408	0.0:1.0:0.0:0.0	.	12;12	Q8WVI7-2;Q8WVI7	.;PPR1C_HUMAN	V	12	ENSP00000399602:A12V;ENSP00000386359:A12V;ENSP00000280295:A12V;ENSP00000386778:A12V	ENSP00000280295:A12V	A	+	2	0	PPP1R1C	182559117	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	5.971000	0.70440	2.941000	0.99782	0.655000	0.94253	GCC		0.448	PPP1R1C-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334874.1	0	NM_001080545		2:182850872
EPS15L1	58513	broad.mit.edu	37	19	16551706	16551706	+	Silent	SNP	G	G	A	rs199918822		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:16551706G>A	ENST00000248070.6	-	4	319	c.180C>T	c.(178-180)gcC>gcT	p.A60A	CTD-2013N17.4_ENST00000587343.1_RNA|EPS15L1_ENST00000455140.2_Silent_p.A60A|EPS15L1_ENST00000594975.1_Silent_p.A60A|EPS15L1_ENST00000535753.2_Silent_p.A60A|EPS15L1_ENST00000597937.1_Silent_p.A60A	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	60	EH 1. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						CTTCTGGATCGGCCAAGTCCC	0.522																																						ENST00000597937.1		NA																	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						c.(178-180)gcC>gcT		epidermal growth factor receptor pathway substrate 15-like 1							243.0	247.0	245.0					19																	16551706		2203	4300	6503	SO:0001819	synonymous_variant	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16551706G>A	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.180C>T	19.37:g.16551706G>A		False	False		Somatic	0				EPS15L1_ENST00000455140.2_Silent_p.A60A|EPS15L1_ENST00000594975.1_Silent_p.A60A|EPS15L1_ENST00000248070.6_Silent_p.A60A|EPS15L1_ENST00000535753.2_Silent_p.A60A	p.A60A	NM_001258376.1	NP_001245305.1	WXS	Illumina HiSeq	Phase_I	Q9UBC2	EP15R_HUMAN			4	184	-			60			EH 1.		A2RRF3|A5PL29|B4DKA3	Silent	SNP	ENST00000248070.6	37	c.180C>T	CCDS32944.1																																																																																				0.522	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	0	NM_021235		19:16551706
RGS12	6002	broad.mit.edu	37	4	3318330	3318330	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr4:3318330G>A	ENST00000344733.5	+	2	1337	c.433G>A	c.(433-435)Gga>Aga	p.G145R	RGS12_ENST00000382788.3_Missense_Mutation_p.G145R|RGS12_ENST00000543385.1_Missense_Mutation_p.G145R|RGS12_ENST00000336727.3_Missense_Mutation_p.G145R	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	145					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCAGTCTGGTGGAATTTTCAA	0.468																																						ENST00000336727.3		NA																	0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(433-435)Gga>Aga		regulator of G-protein signaling 12							59.0	65.0	63.0					4																	3318330		2203	4299	6502	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3318330G>A	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.433G>A	4.37:g.3318330G>A	ENSP00000339381:p.Gly145Arg	False	False		Somatic	0				RGS12_ENST00000382788.3_Missense_Mutation_p.G145R|RGS12_ENST00000344733.5_Missense_Mutation_p.G145R|RGS12_ENST00000543385.1_Missense_Mutation_p.G145R	p.G145R	NM_002926.3	NP_002917.1	WXS	Illumina HiSeq	Phase_I	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	2	1337	+			145					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.433G>A	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196311	0.78902	.	.	ENSG00000159788	ENST00000543385;ENST00000344733;ENST00000336727;ENST00000382788	T;T;T;T	0.37058	1.22;1.27;1.28;1.28	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.61924	0.2386	M	0.77820	2.39	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.994;0.987;0.995	T	0.67960	-0.5535	10	0.72032	D	0.01	-22.7391	16.6763	0.85280	0.0:0.0:1.0:0.0	.	145;145;145	Q8WX97;O14924;O14924-4	.;RGS12_HUMAN;.	R	145	ENSP00000440566:G145R;ENSP00000339381:G145R;ENSP00000338509:G145R;ENSP00000372238:G145R	ENSP00000338509:G145R	G	+	1	0	RGS12	3288128	1.000000	0.71417	0.077000	0.20336	0.902000	0.53008	7.324000	0.79115	2.176000	0.68965	0.491000	0.48974	GGA		0.468	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	0	NM_002926		4:3318330
IL22RA1	58985	broad.mit.edu	37	1	24447351	24447351	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:24447351T>C	ENST00000270800.1	-	7	1707	c.1669A>G	c.(1669-1671)Aca>Gca	p.T557A		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	557					cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)	integral component of membrane (GO:0016021)	interferon receptor activity (GO:0004904)			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		TCCAGTTCTGTGGGCTGCTCC	0.607																																						ENST00000270800.1		NA																	0				breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1669-1671)Aca>Gca		interleukin 22 receptor, alpha 1							54.0	60.0	58.0					1																	24447351		2203	4300	6503	SO:0001583	missense	58985					integral to membrane	interferon receptor activity	g.chr1:24447351T>C	AF286095	CCDS247.1	1p36.11	2009-10-06	2002-12-02	2002-12-06	ENSG00000142677	ENSG00000142677		"""Interleukins and interleukin receptors"""	13700	protein-coding gene	gene with protein product		605457	"""interleukin 22 receptor"""	IL22R		10875937	Standard	NM_021258		Approved	CRF2-9	uc001biq.2	Q8N6P7	OTTHUMG00000003041	ENST00000270800.1:c.1669A>G	1.37:g.24447351T>C	ENSP00000270800:p.Thr557Ala	True	False		Somatic	0					p.T557A	NM_021258.3	NP_067081.2	WXS	Illumina HiSeq	Phase_I	Q8N6P7	I22R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)	7	1707	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	557					A8K839|B2R9Y9|Q9HB22	Missense_Mutation	SNP	ENST00000270800.1	37	c.1669A>G	CCDS247.1	.	.	.	.	.	.	.	.	.	.	T	12.49	1.954597	0.34471	.	.	ENSG00000142677	ENST00000270800	T	0.11385	2.78	4.97	-9.84	0.00479	.	2.787690	0.01292	N	0.010041	T	0.07052	0.0179	L	0.27053	0.805	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.08055	0.003;0.003	T	0.23511	-1.0186	10	0.41790	T	0.15	11.0103	8.4218	0.32705	0.1227:0.5662:0.0:0.3111	.	489;557	B4E2V9;Q8N6P7	.;I22R1_HUMAN	A	557	ENSP00000270800:T557A	ENSP00000270800:T557A	T	-	1	0	IL22RA1	24319938	0.000000	0.05858	0.000000	0.03702	0.862000	0.49288	-2.028000	0.01431	-1.664000	0.01479	0.529000	0.55759	ACA		0.607	IL22RA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008412.1	0			1:24447351
CNTNAP2	26047	broad.mit.edu	37	7	147600759	147600759	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:147600759G>A	ENST00000361727.3	+	14	2717	c.2201G>A	c.(2200-2202)cGc>cAc	p.R734H		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	734	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGCATCGAACGCAACTGCACA	0.582										HNSCC(39;0.1)																												ENST00000361727.3		NA																	0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(2200-2202)cGc>cAc		contactin associated protein-like 2							77.0	63.0	68.0					7																	147600759		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147600759G>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2201G>A	7.37:g.147600759G>A	ENSP00000354778:p.Arg734His	False	False	HNSCC(39;0.1)	Somatic	0					p.R734H	NM_014141.5	NP_054860.1	WXS	Illumina HiSeq	Phase_I	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		14	2717	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	734			Fibrinogen C-terminal.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.2201G>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.119856	0.56613	.	.	ENSG00000174469	ENST00000361727;ENST00000455301	T;T	0.09723	2.95;2.95	5.7	5.7	0.88788	.	0.066576	0.64402	D	0.000013	T	0.12092	0.0294	L	0.38838	1.175	0.80722	D	1	B	0.17268	0.021	B	0.11329	0.006	T	0.05683	-1.0870	10	0.41790	T	0.15	.	18.4119	0.90554	0.0:0.0:1.0:0.0	.	734	Q9UHC6	CNTP2_HUMAN	H	734;125	ENSP00000354778:R734H;ENSP00000392208:R125H	ENSP00000354778:R734H	R	+	2	0	CNTNAP2	147231692	0.993000	0.37304	0.913000	0.36048	0.923000	0.55619	4.880000	0.63107	2.700000	0.92200	0.563000	0.77884	CGC		0.582	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1	0			7:147600759
NHP2L1	4809	broad.mit.edu	37	22	42071074	42071074	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr22:42071074G>A	ENST00000401959.1	-	4	566	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	NHP2L1_ENST00000402458.1_Missense_Mutation_p.R88C|NHP2L1_ENST00000355257.3_Missense_Mutation_p.R84C|NHP2L1_ENST00000215956.5_Missense_Mutation_p.R84C|NHP2L1_ENST00000463675.1_5'UTR	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	84					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ribosome biogenesis (GO:0042254)|RNA splicing (GO:0008380)	box C/D snoRNP complex (GO:0031428)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						TGCTTGGAGCGCACAAACACG	0.577																																						ENST00000401959.1		NA																	0				endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						c.(250-252)Cgc>Tgc		NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)							83.0	76.0	79.0					22																	42071074		2203	4300	6503	SO:0001583	missense	4809				nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding	g.chr22:42071074G>A		CCDS14022.1, CCDS33653.1	22q13	2009-01-06	2001-11-28		ENSG00000100138	ENSG00000100138			7819	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 15.5kDa (U4/U6.U5)"""	601304	"""non-histone chromosome protein 2 (S. cerevisiae)-like 1"", ""sperm specific antigen 1"""	SSFA1		8978773	Standard	NM_005008		Approved	SNU13, FA-1, SPAG12, SNRNP15-5, 15.5K	uc003bav.3	P55769	OTTHUMG00000151189	ENST00000401959.1:c.250C>T	22.37:g.42071074G>A	ENSP00000383949:p.Arg84Cys	False	False		Somatic	0				NHP2L1_ENST00000215956.5_Missense_Mutation_p.R84C|NHP2L1_ENST00000402458.1_Missense_Mutation_p.R88C|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000355257.3_Missense_Mutation_p.R84C	p.R84C	NM_005008.3	NP_004999.1	WXS	Illumina HiSeq	Phase_I	P55769	NH2L1_HUMAN			4	566	-			84						Missense_Mutation	SNP	ENST00000401959.1	37	c.250C>T	CCDS14022.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089824	0.55968	.	.	ENSG00000100138	ENST00000355257;ENST00000215956;ENST00000401959;ENST00000402458	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.34	4.33	0.51752	Ribosomal protein L7Ae conserved site (1);Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.046546	0.85682	D	0.000000	T	0.49575	0.1565	L	0.58428	1.81	0.80722	D	1	B	0.25667	0.131	B	0.17722	0.019	T	0.53443	-0.8438	10	0.87932	D	0	.	14.2921	0.66286	0.072:0.0:0.928:0.0	.	84	P55769	NH2L1_HUMAN	C	84;84;84;88	ENSP00000347401:R84C;ENSP00000215956:R84C;ENSP00000383949:R84C;ENSP00000383989:R88C	ENSP00000215956:R84C	R	-	1	0	NHP2L1	40401020	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	7.467000	0.80930	1.400000	0.46741	-0.229000	0.12294	CGC		0.577	NHP2L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321682.1	0	NM_001003796		22:42071074
ZC3H3	23144	broad.mit.edu	37	8	144620690	144620690	+	Missense_Mutation	SNP	C	C	T	rs374453895		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr8:144620690C>T	ENST00000262577.5	-	2	878	c.847G>A	c.(847-849)Gcc>Acc	p.A283T		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	283					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GCCGGTCTGGCGGGGCCCCCC	0.617																																						ENST00000262577.5		NA																	0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(847-849)Gcc>Acc		zinc finger CCCH-type containing 3		C	THR/ALA	0,4406		0,0,2203	46.0	55.0	52.0		847	3.4	0.0	8		52	1,8593	1.2+/-3.3	0,1,4296	no	missense	ZC3H3	NM_015117.2	58	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	benign	283/949	144620690	1,12999	2203	4297	6500	SO:0001583	missense	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144620690C>T	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.847G>A	8.37:g.144620690C>T	ENSP00000262577:p.Ala283Thr	True	False		Somatic	0					p.A283T	NM_015117.2	NP_055932.2	WXS	Illumina HiSeq	Phase_I	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		2	878	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		283					Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	ENST00000262577.5	37	c.847G>A	CCDS6402.1	.	.	.	.	.	.	.	.	.	.	C	5.773	0.327034	0.10900	0.0	1.16E-4	ENSG00000014164	ENST00000262577	T	0.02863	4.13	5.25	3.44	0.39384	.	1.396000	0.04407	N	0.365298	T	0.02848	0.0085	L	0.44542	1.39	0.09310	N	1	P	0.41710	0.76	B	0.29862	0.108	T	0.43972	-0.9358	10	0.38643	T	0.18	-6.3777	3.3926	0.07294	0.1411:0.5762:0.1364:0.1464	.	283	Q8IXZ2	ZC3H3_HUMAN	T	283	ENSP00000262577:A283T	ENSP00000262577:A283T	A	-	1	0	ZC3H3	144691833	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.254000	0.08781	0.596000	0.29794	-0.126000	0.14955	GCC		0.617	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	0	NM_015117		8:144620690
TRIP11	9321	broad.mit.edu	37	14	92470968	92470968	+	Missense_Mutation	SNP	C	C	G			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:92470968C>G	ENST00000267622.4	-	11	3725	c.3352G>C	c.(3352-3354)Gaa>Caa	p.E1118Q		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1118					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTGTGATATTCTGTTTTTAGA	0.358			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4		NA		Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(3352-3354)Gaa>Caa		thyroid hormone receptor interactor 11							84.0	80.0	81.0					14																	92470968		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92470968C>G	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.3352G>C	14.37:g.92470968C>G	ENSP00000267622:p.Glu1118Gln	False	False		Somatic	0					p.E1118Q	NM_004239.3	NP_004230.2	WXS	Illumina HiSeq	Phase_I	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	3725	-			1118					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.3352G>C	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.52|12.52	1.963335|1.963335	0.34659|0.34659	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.07908|.	3.15|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.054850|.	0.64402|.	D|.	0.000001|.	T|T	0.58206|0.58206	0.2106|0.2106	L|L	0.29908|0.29908	0.895|0.895	0.58432|0.58432	D|D	0.999998|0.999998	D;D|.	0.76494|.	0.996;0.999|.	P;D|.	0.67382|.	0.892;0.951|.	T|T	0.53535|0.53535	-0.8425|-0.8425	10|5	0.35671|.	T|.	0.21|.	.|.	18.7643|18.7643	0.91866|0.91866	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	854;1118|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	Q|T	1118;854|833	ENSP00000267622:E1118Q|.	ENSP00000267622:E1118Q|.	E|R	-|-	1|2	0|0	TRIP11|TRIP11	91540721|91540721	1.000000|1.000000	0.71417|0.71417	0.236000|0.236000	0.24074|0.24074	0.094000|0.094000	0.18550|0.18550	7.726000|7.726000	0.84824|0.84824	2.420000|2.420000	0.82092|0.82092	0.563000|0.563000	0.77884|0.77884	GAA|AGA		0.358	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1	0			14:92470968
RBFOX2	23543	broad.mit.edu	37	22	36205927	36205927	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr22:36205927G>A	ENST00000438146.2	-	3	361	c.362C>T	c.(361-363)gCc>gTc	p.A121V	RBFOX2_ENST00000405409.2_Missense_Mutation_p.A51V|RBFOX2_ENST00000262829.7_Missense_Mutation_p.A51V|RBFOX2_ENST00000414461.2_Missense_Mutation_p.A51V|RBFOX2_ENST00000359369.4_Missense_Mutation_p.A31V|RBFOX2_ENST00000449924.2_Missense_Mutation_p.A51V|RBFOX2_ENST00000397303.2_Missense_Mutation_p.A31V|RBFOX2_ENST00000416721.2_Missense_Mutation_p.A51V	NM_001082578.1|NM_001082579.1	NP_001076047|NP_001076048.1	O43251	RFOX2_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 2	61	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				dendrite morphogenesis (GO:0048813)|intracellular estrogen receptor signaling pathway (GO:0030520)|mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of cell proliferation (GO:0042127)|regulation of definitive erythrocyte differentiation (GO:0010724)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(4)|large_intestine(7)|lung(7)	18						GGTCTGGCCGGCATAGTCTTG	0.542																																						ENST00000405409.2		NA																	0				endometrium(4)|large_intestine(7)|lung(7)	18						c.(151-153)gCc>gTc		RNA binding protein, fox-1 homolog (C. elegans) 2							248.0	211.0	224.0					22																	36205927		2203	4300	6503	SO:0001583	missense	23543				estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing	cytoplasm|nucleus	nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding	g.chr22:36205927G>A	AL009266	CCDS13921.1, CCDS43013.1, CCDS46699.1, CCDS46700.1, CCDS46701.1	22q12-q13	2013-02-12	2010-09-10	2010-09-10	ENSG00000100320	ENSG00000100320		"""RNA binding motif (RRM) containing"""	9906	protein-coding gene	gene with protein product	"""hexaribonucleotide binding protein 2"""	612149	"""RNA binding motif protein 9"""	RBM9			Standard	NM_014309		Approved	HNRBP2, FOX-2, HRNBP2	uc003aon.4	O43251	OTTHUMG00000150585	ENST00000438146.2:c.362C>T	22.37:g.36205927G>A	ENSP00000413035:p.Ala121Val	False	False		Somatic	0				RBFOX2_ENST00000359369.4_Missense_Mutation_p.A31V|RBFOX2_ENST00000416721.2_Missense_Mutation_p.A51V|RBFOX2_ENST00000262829.7_Missense_Mutation_p.A51V|RBFOX2_ENST00000449924.2_Missense_Mutation_p.A51V|RBFOX2_ENST00000397303.2_Missense_Mutation_p.A31V|RBFOX2_ENST00000414461.2_Missense_Mutation_p.A51V|RBFOX2_ENST00000438146.2_Missense_Mutation_p.A121V	p.A51V	NM_001031695.2|NM_001082576.1|NM_001082577.1|NM_014309.2	NP_001026865.1|NP_001076045.1|NP_001076046.1|NP_055124.1	WXS	Illumina HiSeq	Phase_I	O43251	RFOX2_HUMAN			2	520	-			61					A4F5G8|A8K5Z5|B0QYY8|B0QYY9|Q0PRL5|Q0VH35|Q5TF71|Q6IC09|Q8TD00|Q8WYB1|Q96DZ6|Q96NL7|Q9UGW4|Q9UH33	Missense_Mutation	SNP	ENST00000438146.2	37	c.152C>T	CCDS43013.1	.	.	.	.	.	.	.	.	.	.	G	36	5.778134	0.96929	.	.	ENSG00000100320	ENST00000405409;ENST00000338644;ENST00000414461;ENST00000449924;ENST00000262829;ENST00000397303;ENST00000359369;ENST00000416721;ENST00000438146;ENST00000408983;ENST00000397305	T;T;T;T;T;T;T;T	0.52754	1.44;1.26;0.69;0.99;1.38;0.95;0.65;1.66	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.66499	0.2795	L	0.54323	1.7	0.54753	D	0.999982	D;D;D;D;P;D;D;P;P;D	0.67145	0.996;0.974;0.975;0.975;0.939;0.996;0.995;0.913;0.925;0.974	P;P;P;P;B;D;P;P;P;P	0.70935	0.874;0.72;0.647;0.647;0.376;0.971;0.885;0.614;0.644;0.595	T	0.67070	-0.5763	10	0.87932	D	0	.	20.0065	0.97435	0.0:0.0:1.0:0.0	.	31;61;121;121;51;51;51;51;51;31	B0QYY4;O43251;O43251-6;O43251-8;O43251-3;O43251-5;O43251-9;O43251-10;O43251-4;B0QYV1	.;RFOX2_HUMAN;.;.;.;.;.;.;.;.	V	51;61;51;51;51;31;31;51;121;73;31	ENSP00000384944:A51V;ENSP00000407855:A51V;ENSP00000391670:A51V;ENSP00000380470:A31V;ENSP00000352328:A31V;ENSP00000405651:A51V;ENSP00000413035:A121V;ENSP00000386177:A73V	ENSP00000262829:A51V	A	-	2	0	RBFOX2	34535873	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.346000	0.90060	2.713000	0.92767	0.655000	0.94253	GCC		0.542	RBFOX2-005	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319299.3	0			22:36205927
CMYA5	202333	broad.mit.edu	37	5	79026738	79026738	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr5:79026738G>A	ENST00000446378.2	+	2	2181	c.2150G>A	c.(2149-2151)cGt>cAt	p.R717H		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	717					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ACAATTGACCGTAAGTCCCCG	0.448																																						ENST00000446378.2		NA																	0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(2149-2151)cGt>cAt		cardiomyopathy associated 5							84.0	79.0	81.0					5																	79026738		1924	4138	6062	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79026738G>A	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.2150G>A	5.37:g.79026738G>A	ENSP00000394770:p.Arg717His	False	False		Somatic	0					p.R717H	NM_153610.3	NP_705838.3	WXS	Illumina HiSeq	Phase_I	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	2181	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	717					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.2150G>A	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	g	8.935	0.964478	0.18583	.	.	ENSG00000164309	ENST00000446378	T	0.46451	0.87	5.56	-11.1	0.00147	.	1.948280	0.02137	N	0.056869	T	0.08179	0.0204	N	0.00237	-1.79	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38394	-0.9663	10	0.30078	T	0.28	.	1.3491	0.02169	0.16:0.331:0.2504:0.2586	.	717	Q8N3K9	CMYA5_HUMAN	H	717	ENSP00000394770:R717H	ENSP00000394770:R717H	R	+	2	0	CMYA5	79062494	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.582000	0.02117	-2.338000	0.00627	-1.007000	0.02485	CGT		0.448	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	0	NM_153610		5:79026738
ALG13	79868	broad.mit.edu	37	X	110980099	110980099	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chrX:110980099G>A	ENST00000394780.3	+	23	2699	c.2687G>A	c.(2686-2688)gGc>gAc	p.G896D	ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Missense_Mutation_p.G792D	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	896	Pro-rich.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						CCTACACACGGCAGGCCAGGT	0.433																																						ENST00000394780.3		NA																	0				endometrium(2)|lung(10)|skin(1)	13						c.(2686-2688)gGc>gAc		ALG13, UDP-N-acetylglucosaminyltransferase subunit							200.0	173.0	181.0					X																	110980099		1568	3582	5150	SO:0001583	missense	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:110980099G>A	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.2687G>A	X.37:g.110980099G>A	ENSP00000378260:p.Gly896Asp	False	False		Somatic	0				ALG13_ENST00000251943.4_Missense_Mutation_p.G792D|ALG13_ENST00000470971.1_3'UTR	p.G896D	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	WXS	Illumina HiSeq	Phase_I	Q9NP73	ALG13_HUMAN			23	2699	+			896			Pro-rich.		B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	ENST00000394780.3	37	c.2687G>A	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.841823	0.32513	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000436609	T;T	0.33865	1.39;3.01	5.49	2.7	0.31948	.	0.548871	0.20332	N	0.094419	T	0.48150	0.1484	L	0.58101	1.795	0.09310	N	1	B;B;D	0.67145	0.082;0.049;0.996	B;B;P	0.62184	0.04;0.018;0.899	T	0.33085	-0.9882	10	0.28530	T	0.3	1.5933	10.6013	0.45369	0.2322:0.0:0.7678:0.0	.	818;896;792	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	D	792;896;529	ENSP00000251943:G792D;ENSP00000378260:G896D	ENSP00000251943:G792D	G	+	2	0	ALG13	110866755	0.055000	0.20627	0.049000	0.19019	0.885000	0.51271	0.494000	0.22467	0.596000	0.29794	0.600000	0.82982	GGC		0.433	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	0	NM_018466		X:110980099
VWC2	375567	broad.mit.edu	37	7	49815696	49815696	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:49815696G>A	ENST00000340652.4	+	2	1221	c.665G>A	c.(664-666)gGc>gAc	p.G222D		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	222	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|basement membrane (GO:0005604)|cell junction (GO:0030054)|extracellular space (GO:0005615)|interstitial matrix (GO:0005614)|synapse (GO:0045202)				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						GAGTTCCGGGGCAAGACCTAT	0.617																																						ENST00000340652.4		NA																	0				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						c.(664-666)gGc>gAc		von Willebrand factor C domain containing 2							18.0	23.0	21.0					7																	49815696		2095	4222	6317	SO:0001583	missense	375567				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space		g.chr7:49815696G>A	AY358393	CCDS5508.1	7p12.3-p12.2	2007-07-19			ENSG00000188730	ENSG00000188730			30200	protein-coding gene	gene with protein product	"""brorin"", ""brain-specific chordin-like"""	611108				17400546	Standard	NM_198570		Approved	PSST739, UNQ739	uc003tot.1	Q2TAL6	OTTHUMG00000129265	ENST00000340652.4:c.665G>A	7.37:g.49815696G>A	ENSP00000341819:p.Gly222Asp	True	False		Somatic	0					p.G222D	NM_198570.3	NP_940972.2	WXS	Illumina HiSeq	Phase_I	Q2TAL6	VWC2_HUMAN			2	1221	+			NA			VWFC 2.		Q6UXE2	Missense_Mutation	SNP	ENST00000340652.4	37	c.665G>A	CCDS5508.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334557	0.81801	.	.	ENSG00000188730	ENST00000340652	T	0.72615	-0.67	4.84	3.95	0.45737	von Willebrand factor, type C (3);	0.062437	0.64402	D	0.000006	T	0.78641	0.4315	M	0.66939	2.045	0.53005	D	0.999969	P	0.47962	0.903	P	0.57502	0.822	T	0.80425	-0.1388	10	0.59425	D	0.04	.	12.8246	0.57712	0.0796:0.0:0.9204:0.0	.	222	Q2TAL6	VWC2_HUMAN	D	222	ENSP00000341819:G222D	ENSP00000341819:G222D	G	+	2	0	VWC2	49786242	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.650000	0.74368	2.383000	0.81215	0.561000	0.74099	GGC		0.617	VWC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251375.2	0	NM_198570		7:49815696
EXOSC5	56915	broad.mit.edu	37	19	41895788	41895788	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:41895788G>A	ENST00000221233.4	-	4	557	c.407C>T	c.(406-408)gCc>gTc	p.A136V	CTC-435M10.3_ENST00000604424.1_Intron|BCKDHA_ENST00000595085.1_Intron|EXOSC5_ENST00000596905.1_Missense_Mutation_p.A98V|CTC-435M10.3_ENST00000540732.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	136					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						CATGCAGGCGGCATTCAGACA	0.552																																						ENST00000221233.4		NA																	0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						c.(406-408)gCc>gTc		exosome component 5							55.0	55.0	55.0					19																	41895788		2203	4300	6503	SO:0001583	missense	56915				DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding	g.chr19:41895788G>A	AF285785	CCDS12580.1	19q13.1	2008-02-05				ENSG00000077348			24662	protein-coding gene	gene with protein product	"""exosome component Rrp46"""	606492				11110791, 11812149	Standard	NM_020158		Approved	hRrp46p, Rrp46p, RRP46, RRP41B, MGC12901, p12B	uc002oqo.3	Q9NQT4		ENST00000221233.4:c.407C>T	19.37:g.41895788G>A	ENSP00000221233:p.Ala136Val	False	False		Somatic	0				CTC-435M10.3_ENST00000604424.1_Intron|EXOSC5_ENST00000596905.1_Missense_Mutation_p.A98V|CTC-435M10.3_ENST00000540732.1_Intron|BCKDHA_ENST00000595085.1_Intron	p.A136V	NM_020158.3	NP_064543.3	WXS	Illumina HiSeq	Phase_I	Q9NQT4	EXOS5_HUMAN			4	557	-			136					Q32Q81|Q8NG16|Q96I89	Missense_Mutation	SNP	ENST00000221233.4	37	c.407C>T	CCDS12580.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253259	0.80135	.	.	ENSG00000077348	ENST00000221233	T	0.75938	-0.98	5.03	4.0	0.46444	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.160189	0.53938	N	0.000043	T	0.74831	0.3768	M	0.85630	2.765	0.53005	D	0.999964	P	0.46142	0.873	B	0.38378	0.272	T	0.80605	-0.1308	10	0.87932	D	0	-8.6688	12.5828	0.56399	0.0816:0.0:0.9184:0.0	.	136	Q9NQT4	EXOS5_HUMAN	V	136	ENSP00000221233:A136V	ENSP00000221233:A136V	A	-	2	0	EXOSC5	46587628	1.000000	0.71417	0.875000	0.34327	0.987000	0.75469	6.217000	0.72218	1.488000	0.48433	0.650000	0.86243	GCC		0.552	EXOSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463492.1	0	NM_020158		19:41895788
BMP1	649	broad.mit.edu	37	8	22064900	22064900	+	Missense_Mutation	SNP	C	C	T	rs150161793		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr8:22064900C>T	ENST00000306385.5	+	18	3116	c.2446C>T	c.(2446-2448)Ccc>Tcc	p.P816S	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	816	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CGCCAAGGCCCCCGTCCTCGG	0.627																																						ENST00000306385.5		NA																	0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(2446-2448)Ccc>Tcc		bone morphogenetic protein 1							73.0	80.0	78.0					8																	22064900		2203	4300	6503	SO:0001583	missense	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22064900C>T		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2446C>T	8.37:g.22064900C>T	ENSP00000305714:p.Pro816Ser	True	False		Somatic	0				BMP1_ENST00000354870.5_3'UTR	p.P816S	NM_006129.4	NP_006120.1	WXS	Illumina HiSeq	Phase_I	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	18	3116	+			816			CUB 4.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.2446C>T	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927502	0.73327	.	.	ENSG00000168487	ENST00000306385	T	0.30182	1.54	5.26	4.38	0.52667	CUB (5);	0.412825	0.17745	U	0.163437	T	0.34193	0.0889	L	0.48986	1.54	0.80722	D	1	B	0.23540	0.087	B	0.33690	0.168	T	0.08166	-1.0735	10	0.33141	T	0.24	.	14.7938	0.69863	0.0:0.8544:0.1456:0.0	.	816	P13497	BMP1_HUMAN	S	816	ENSP00000305714:P816S	ENSP00000305714:P816S	P	+	1	0	BMP1	22120845	0.989000	0.36119	0.182000	0.23118	0.911000	0.54048	4.070000	0.57548	1.204000	0.43247	0.561000	0.74099	CCC		0.627	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	0	NM_006132		8:22064900
AHNAK2	113146	broad.mit.edu	37	14	105412407	105412407	+	Silent	SNP	C	C	A	rs374653111	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:105412407C>A	ENST00000333244.5	-	7	9500	c.9381G>T	c.(9379-9381)ggG>ggT	p.G3127G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3127						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.G3127G(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGACAGGTCCCCCTCCAGCC	0.622													.|||	3	0.000599042	0.0008	0.0	5008	,	,		18147	0.001		0.0	False		,,,				2504	0.001					ENST00000333244.5		NA																	1	Substitution - coding silent(1)	p.G3127G(1)	ovary(1)	cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(9379-9381)ggG>ggT		AHNAK nucleoprotein 2		A		0,3924		0,0,1962	152.0	129.0	136.0		9381	-6.6	0.0	14		136	2,8232		0,2,4115	no	coding-synonymous	AHNAK2	NM_138420.2		0,2,6077	AA,AC,CC		0.0243,0.0,0.0165		3127/5796	105412407	2,12156	1962	4117	6079	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105412407C>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9381G>T	14.37:g.105412407C>A		True	False		Somatic	0				AHNAK2_ENST00000557457.1_Intron	p.G3127G	NM_138420.2	NP_612429.2	WXS	Illumina HiSeq	Phase_I	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	9500	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3127					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.9381G>T	CCDS45177.1																																																																																				0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	0	NM_138420		14:105412407
NLRP8	126205	broad.mit.edu	37	19	56466799	56466799	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:56466799G>A	ENST00000291971.3	+	3	1446	c.1375G>A	c.(1375-1377)Gca>Aca	p.A459T	NLRP8_ENST00000590542.1_Missense_Mutation_p.A459T	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	459	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCACTTGGCCGCAGACAGCAT	0.498																																						ENST00000291971.3		NA																	0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(1375-1377)Gca>Aca		NLR family, pyrin domain containing 8							108.0	101.0	104.0					19																	56466799		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56466799G>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1375G>A	19.37:g.56466799G>A	ENSP00000291971:p.Ala459Thr	False	False		Somatic	0				NLRP8_ENST00000590542.1_Missense_Mutation_p.A459T	p.A459T	NM_176811.2	NP_789781.2	WXS	Illumina HiSeq	Phase_I	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	1446	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	459			NACHT.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.1375G>A	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.979924	0.34942	.	.	ENSG00000179709	ENST00000291971	D	0.83837	-1.77	2.04	0.947	0.19555	.	.	.	.	.	D	0.87438	0.6177	M	0.74647	2.275	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.65010	0.928;0.931	T	0.75419	-0.3324	9	0.72032	D	0.01	.	5.6935	0.17843	0.0:0.0:0.6797:0.3203	.	459;459	Q86W28-2;Q86W28	.;NALP8_HUMAN	T	459	ENSP00000291971:A459T	ENSP00000291971:A459T	A	+	1	0	NLRP8	61158611	0.057000	0.20700	0.001000	0.08648	0.002000	0.02628	2.681000	0.46926	0.401000	0.25424	-0.426000	0.05927	GCA		0.498	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	0	NM_176811		19:56466799
SEMA4C	54910	broad.mit.edu	37	2	97533539	97533539	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:97533539G>A	ENST00000305476.5	-	2	217	c.85C>T	c.(85-87)Ccg>Tcg	p.P29S		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	29					cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GTCTTACGCGGCACAAGGTTC	0.642																																						ENST00000305476.5		NA																	0				NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						c.(85-87)Ccg>Tcg		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C							165.0	149.0	155.0					2																	97533539		2203	4300	6503	SO:0001583	missense	54910				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity	g.chr2:97533539G>A	AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10731	protein-coding gene	gene with protein product	"""M-Sema F"""	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.85C>T	2.37:g.97533539G>A	ENSP00000306844:p.Pro29Ser	False	False		Somatic	0					p.P29S	NM_017789.4	NP_060259.4	WXS	Illumina HiSeq	Phase_I	Q9C0C4	SEM4C_HUMAN			2	217	-			29					Q32MJ3|Q7Z5X0	Missense_Mutation	SNP	ENST00000305476.5	37	c.85C>T	CCDS2029.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312270	0.81358	.	.	ENSG00000168758	ENST00000305476;ENST00000442264;ENST00000449330	T;T;T	0.59638	1.43;0.25;0.25	4.3	4.3	0.51218	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (1);	0.285799	0.25277	N	0.031836	T	0.62097	0.2400	N	0.24115	0.695	0.38811	D	0.955416	D	0.89917	1.0	D	0.97110	1.0	T	0.67968	-0.5533	10	0.87932	D	0	.	12.123	0.53902	0.0:0.0:1.0:0.0	.	29	Q9C0C4	SEM4C_HUMAN	S	29	ENSP00000306844:P29S;ENSP00000393498:P29S;ENSP00000391094:P29S	ENSP00000306844:P29S	P	-	1	0	SEMA4C	96897266	0.004000	0.15560	1.000000	0.80357	0.838000	0.47535	0.611000	0.24268	2.224000	0.72417	0.491000	0.48974	CCG		0.642	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	0	NM_017789		2:97533539
METTL7A	25840	broad.mit.edu	37	12	51319018	51319018	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr12:51319018C>T	ENST00000548553.1	+	2	1178	c.197C>T	c.(196-198)gCg>gTg	p.A66V	METTL7A_ENST00000332160.4_Missense_Mutation_p.A66V			Q9H8H3	MET7A_HUMAN	methyltransferase like 7A	66						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)	methyltransferase activity (GO:0008168)	p.A66V(1)		endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						CAGGAGTTTGCGGGCCCCTCC	0.552																																						ENST00000548553.1		NA																	1	Substitution - Missense(1)	p.A66V(1)	lung(1)	endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						c.(196-198)gCg>gTg		methyltransferase like 7A							41.0	41.0	41.0					12																	51319018		2203	4300	6503	SO:0001583	missense	25840					endoplasmic reticulum|lipid particle|membrane	methyltransferase activity	g.chr12:51319018C>T		CCDS8804.1	12q13.12	2013-06-20			ENSG00000185432	ENSG00000185432			24550	protein-coding gene	gene with protein product						12975309	Standard	XM_006719332		Approved	DKFZP586A0522	uc001rxb.3	Q9H8H3	OTTHUMG00000169484	ENST00000548553.1:c.197C>T	12.37:g.51319018C>T	ENSP00000448785:p.Ala66Val	True	False		Somatic	0				METTL7A_ENST00000332160.4_Missense_Mutation_p.A66V	p.A66V			WXS	Illumina HiSeq	Phase_I	Q9H8H3	MET7A_HUMAN			2	1178	+			66					Q9H7R3|Q9UHZ7|Q9Y422	Missense_Mutation	SNP	ENST00000548553.1	37	c.197C>T	CCDS8804.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.439444	0.25900	.	.	ENSG00000185432	ENST00000548553;ENST00000550502;ENST00000332160;ENST00000433599	T;T;T	0.16597	2.33;2.33;2.33	5.0	-1.08	0.09936	.	0.852961	0.10781	N	0.634907	T	0.09598	0.0236	L	0.34521	1.04	0.09310	N	1	B;B	0.16802	0.017;0.019	B;B	0.12837	0.003;0.008	T	0.38993	-0.9635	10	0.20519	T	0.43	-1.5348	2.5233	0.04685	0.1123:0.4458:0.1094:0.3324	.	66;66	B4DDW1;Q9H8H3	.;MET7A_HUMAN	V	66	ENSP00000448785:A66V;ENSP00000450239:A66V;ENSP00000331787:A66V	ENSP00000331787:A66V	A	+	2	0	METTL7A	49605285	0.000000	0.05858	0.000000	0.03702	0.544000	0.35116	0.002000	0.13061	-0.304000	0.08843	-0.140000	0.14226	GCG		0.552	METTL7A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404294.2	0	NM_014033		12:51319018
MMRN1	22915	broad.mit.edu	37	4	90872802	90872802	+	Silent	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr4:90872802G>A	ENST00000394980.1	+	8	3484	c.3165G>A	c.(3163-3165)acG>acA	p.T1055T	MMRN1_ENST00000264790.2_Silent_p.T1055T|MMRN1_ENST00000508372.1_Silent_p.T797T|MMRN1_ENST00000394981.1_Silent_p.T358T			Q13201	MMRN1_HUMAN	multimerin 1	1055	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		ATGGGGGCACGTGCATAAATG	0.433																																						ENST00000394980.1		NA																	0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(3163-3165)acG>acA		multimerin 1							107.0	91.0	97.0					4																	90872802		2203	4300	6503	SO:0001819	synonymous_variant	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90872802G>A	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.3165G>A	4.37:g.90872802G>A		False	False		Somatic	0				MMRN1_ENST00000264790.2_Silent_p.T1055T|MMRN1_ENST00000394981.1_Silent_p.T358T|MMRN1_ENST00000508372.1_Silent_p.T797T	p.T1055T			WXS	Illumina HiSeq	Phase_I	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	8	3484	+		Hepatocellular(203;0.114)	1055			EGF-like.		Q4W5L1|Q6P3T8|Q6ZUL9	Silent	SNP	ENST00000394980.1	37	c.3165G>A	CCDS3635.1																																																																																				0.433	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	0	NM_007351		4:90872802
JADE1	79960	broad.mit.edu	37	4	129783124	129783124	+	Missense_Mutation	SNP	G	G	A	rs536855766		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr4:129783124G>A	ENST00000226319.6	+	9	1527	c.1247G>A	c.(1246-1248)cGt>cAt	p.R416H	PHF17_ENST00000511647.1_Missense_Mutation_p.R416H|PHF17_ENST00000413543.2_Missense_Mutation_p.R416H|PHF17_ENST00000512960.1_Missense_Mutation_p.R416H|PHF17_ENST00000452328.2_Missense_Mutation_p.R404H	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GTGAGTGTCCGTAAGCAGAAG	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		18532	0.0		0.0	False		,,,				2504	0.001					ENST00000226319.6		NA																	0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1246-1248)cGt>cAt									106.0	100.0	102.0					4																	129783124		2203	4300	6503	SO:0001583	missense	0				apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding	g.chr4:129783124G>A																												ENST00000226319.6:c.1247G>A	4.37:g.129783124G>A	ENSP00000226319:p.Arg416His	False	False		Somatic	0				PHF17_ENST00000512960.1_Missense_Mutation_p.R416H|PHF17_ENST00000413543.2_Missense_Mutation_p.R416H|PHF17_ENST00000511647.1_Missense_Mutation_p.R416H|PHF17_ENST00000452328.2_Missense_Mutation_p.R404H	p.R416H	NM_199320.2	NP_955352.1	WXS	Illumina HiSeq	Phase_I	Q6IE81	JADE1_HUMAN			9	1527	+			416						Missense_Mutation	SNP	ENST00000226319.6	37	c.1247G>A	CCDS34062.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.224990	0.58668	.	.	ENSG00000077684	ENST00000226319;ENST00000511647;ENST00000452328;ENST00000512960;ENST00000535321;ENST00000413543	T;T;T;T;T	0.49139	0.88;0.79;0.88;0.88;0.79	5.01	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.69628	0.3132	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.73830	-0.3859	9	.	.	.	.	13.6817	0.62489	0.0745:0.0:0.9255:0.0	.	404;416;416	Q6IE81-2;Q6IE81;Q6IE81-3	.;JADE1_HUMAN;.	H	416;416;404;416;416;416	ENSP00000226319:R416H;ENSP00000423737:R416H;ENSP00000388015:R404H;ENSP00000425730:R416H;ENSP00000404211:R416H	.	R	+	2	0	PHF17	130002574	1.000000	0.71417	0.821000	0.32701	0.166000	0.22503	8.901000	0.92560	1.346000	0.45694	-0.150000	0.13652	CGT		0.607	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1	0			4:129783124
ZFAT	57623	broad.mit.edu	37	8	135614834	135614834	+	Silent	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr8:135614834C>T	ENST00000377838.3	-	6	1302	c.1128G>A	c.(1126-1128)gcG>gcA	p.A376A	ZFAT_ENST00000520356.1_Silent_p.A364A|ZFAT_ENST00000523399.1_Silent_p.A314A|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520727.1_Silent_p.A364A|ZFAT_ENST00000429442.2_Silent_p.A364A|ZFAT_ENST00000520214.1_Silent_p.A364A	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	376					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GTGGGTCATGCGCGTCTCGGA	0.552																																						ENST00000520727.1		NA																	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1090-1092)gcG>gcA		zinc finger and AT hook domain containing							74.0	75.0	74.0					8																	135614834		2114	4240	6354	SO:0001819	synonymous_variant	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135614834C>T	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.1128G>A	8.37:g.135614834C>T		False	False		Somatic	0				ZFAT_ENST00000523399.1_Silent_p.A314A|ZFAT_ENST00000520214.1_Silent_p.A364A|ZFAT_ENST00000377838.3_Silent_p.A376A|ZFAT_ENST00000520356.1_Silent_p.A364A|ZFAT_ENST00000429442.2_Silent_p.A364A	p.A364A	NM_001029939.3	NP_001025110.2	WXS	Illumina HiSeq	Phase_I	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		7	1391	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		376					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Silent	SNP	ENST00000377838.3	37	c.1092G>A	CCDS47924.1																																																																																				0.552	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	0	NM_001029939		8:135614834
KCNG4	93107	broad.mit.edu	37	16	84256037	84256037	+	Missense_Mutation	SNP	G	G	A	rs142742654		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr16:84256037G>A	ENST00000308251.4	-	3	1414	c.1346C>T	c.(1345-1347)cCg>cTg	p.P449L		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	449					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						AGACGTGGCCGGGAAGGCCAT	0.627																																						ENST00000308251.4		NA																	0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						c.(1345-1347)cCg>cTg		potassium voltage-gated channel, subfamily G, member 4		G	LEU/PRO	0,4400		0,0,2200	71.0	70.0	70.0		1346	5.6	1.0	16	dbSNP_134	70	1,8599	1.2+/-3.3	0,1,4299	no	missense	KCNG4	NM_172347.2	98	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	449/520	84256037	1,12999	2200	4300	6500	SO:0001583	missense	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84256037G>A	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.1346C>T	16.37:g.84256037G>A	ENSP00000312129:p.Pro449Leu	True	False		Somatic	0					p.P449L	NM_172347.2	NP_758857.1	WXS	Illumina HiSeq	Phase_I	Q8TDN1	KCNG4_HUMAN			3	1414	-			449					Q96H24	Missense_Mutation	SNP	ENST00000308251.4	37	c.1346C>T	CCDS10945.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831268	0.91036	0.0	1.16E-4	ENSG00000168418	ENST00000308251	T	0.56103	0.48	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.75496	0.3857	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78380	-0.2226	10	0.87932	D	0	.	18.6264	0.91340	0.0:0.0:1.0:0.0	.	449	Q8TDN1	KCNG4_HUMAN	L	449	ENSP00000312129:P449L	ENSP00000312129:P449L	P	-	2	0	KCNG4	82813538	1.000000	0.71417	0.999000	0.59377	1.000000	0.99986	9.869000	0.99810	2.631000	0.89168	0.655000	0.94253	CCG		0.627	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	0	NM_172347		16:84256037
RAD21	5885	broad.mit.edu	37	8	117869572	117869572	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr8:117869572G>A	ENST00000297338.2	-	6	909	c.622C>T	c.(622-624)Cat>Tat	p.H208Y	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	208					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TATTCTAAATGGTTAATTTTC	0.358																																						ENST00000297338.2		NA																	0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32						c.(622-624)Cat>Tat		RAD21 homolog (S. pombe)							147.0	150.0	149.0					8																	117869572		2203	4300	6503	SO:0001583	missense	5885				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	g.chr8:117869572G>A	BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"""sister chromatid cohesion 1"""	606462	"""RAD21 (S. pombe) homolog"""			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.622C>T	8.37:g.117869572G>A	ENSP00000297338:p.His208Tyr	False	False		Somatic	0				RAD21_ENST00000523547.1_5'UTR	p.H208Y	NM_006265.2	NP_006256.1	WXS	Illumina HiSeq	Phase_I	O60216	RAD21_HUMAN			6	909	-	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)		208					A8K0E0|Q15001|Q99568	Missense_Mutation	SNP	ENST00000297338.2	37	c.622C>T	CCDS6321.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458476	0.63401	.	.	ENSG00000164754	ENST00000297338;ENST00000520992;ENST00000517485	T;T;T	0.53857	0.6;1.51;1.51	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.60702	0.2289	M	0.62723	1.935	0.80722	D	1	D	0.54207	0.965	P	0.47827	0.558	T	0.63225	-0.6685	10	0.52906	T	0.07	-17.6597	19.717	0.96124	0.0:0.0:1.0:0.0	.	208	O60216	RAD21_HUMAN	Y	208	ENSP00000297338:H208Y;ENSP00000429342:H208Y;ENSP00000427923:H208Y	ENSP00000297338:H208Y	H	-	1	0	RAD21	117938753	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.161000	0.94739	2.734000	0.93682	0.563000	0.77884	CAT		0.358	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	0	NM_006265		8:117869572
BRSK1	84446	broad.mit.edu	37	19	55814225	55814225	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:55814225C>T	ENST00000309383.1	+	10	1295	c.1018C>T	c.(1018-1020)Cgc>Tgc	p.R340C	BRSK1_ENST00000326848.7_Missense_Mutation_p.R35C|BRSK1_ENST00000585418.1_Missense_Mutation_p.R340C|BRSK1_ENST00000590333.1_Missense_Mutation_p.R356C	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	340	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		TCGCGAGCTGCGCAGTGAGGA	0.662																																						ENST00000309383.1		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48						c.(1018-1020)Cgc>Tgc		BR serine/threonine kinase 1							56.0	44.0	48.0					19																	55814225		2203	4300	6503	SO:0001583	missense	84446				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55814225C>T	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.1018C>T	19.37:g.55814225C>T	ENSP00000310649:p.Arg340Cys	False	False		Somatic	0				BRSK1_ENST00000326848.7_Missense_Mutation_p.R35C|BRSK1_ENST00000590333.1_Missense_Mutation_p.R356C|BRSK1_ENST00000585418.1_Missense_Mutation_p.R340C	p.R340C	NM_032430.1	NP_115806.1	WXS	Illumina HiSeq	Phase_I	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	10	1295	+		Renal(1328;0.245)	340			UBA.		F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	c.1018C>T	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	16.92	3.256628	0.59321	.	.	ENSG00000160469	ENST00000309383;ENST00000543410;ENST00000326848	T;T	0.72167	-0.63;1.95	4.69	3.62	0.41486	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (1);	0.301128	0.28865	N	0.013882	T	0.66157	0.2761	N	0.08118	0	0.49483	D	0.999797	D;D	0.71674	0.996;0.998	P;P	0.61201	0.771;0.885	T	0.72620	-0.4238	10	0.72032	D	0.01	.	13.1288	0.59369	0.1618:0.8382:0.0:0.0	.	340;356	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	C	340;35;35	ENSP00000310649:R340C;ENSP00000320853:R35C	ENSP00000310649:R340C	R	+	1	0	BRSK1	60506037	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.281000	0.43452	1.075000	0.40932	0.655000	0.94253	CGC		0.662	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	0	NM_032430		19:55814225
ZNF184	7738	broad.mit.edu	37	6	27420760	27420760	+	Missense_Mutation	SNP	A	A	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr6:27420760A>T	ENST00000211936.6	-	6	862	c.578T>A	c.(577-579)cTt>cAt	p.L193H	ZNF184_ENST00000377419.1_Missense_Mutation_p.L193H	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	193					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTGTGTTACAAGGTTTGAACT	0.368																																						ENST00000211936.6		NA																	0				breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(577-579)cTt>cAt		zinc finger protein 184							230.0	228.0	229.0					6																	27420760		2203	4300	6503	SO:0001583	missense	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27420760A>T	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.578T>A	6.37:g.27420760A>T	ENSP00000211936:p.Leu193His	False	False		Somatic	0				ZNF184_ENST00000377419.1_Missense_Mutation_p.L193H	p.L193H	NM_007149.2	NP_009080.2	WXS	Illumina HiSeq	Phase_I	Q99676	ZN184_HUMAN			6	862	-			193					B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	c.578T>A	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	A	16.80	3.222112	0.58560	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.08370	3.1;3.1	5.32	0.257	0.15574	.	0.879076	0.09630	N	0.776357	T	0.06371	0.0164	M	0.91300	3.195	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31888	-0.9927	10	0.54805	T	0.06	.	7.6793	0.28505	0.642:0.0:0.358:0.0	.	193	Q99676	ZN184_HUMAN	H	193	ENSP00000211936:L193H;ENSP00000366636:L193H	ENSP00000211936:L193H	L	-	2	0	ZNF184	27528739	0.003000	0.15002	0.002000	0.10522	0.577000	0.36160	1.919000	0.40015	0.147000	0.19030	0.454000	0.30748	CTT		0.368	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	0	NM_007149		6:27420760
TRIP11	9321	broad.mit.edu	37	14	92470905	92470905	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:92470905C>T	ENST00000267622.4	-	11	3788	c.3415G>A	c.(3415-3417)Gaa>Aaa	p.E1139K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1139					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTTTTATTTTCATCTTGCAGT	0.338			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4		NA		Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(3415-3417)Gaa>Aaa		thyroid hormone receptor interactor 11							65.0	61.0	62.0					14																	92470905		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92470905C>T	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.3415G>A	14.37:g.92470905C>T	ENSP00000267622:p.Glu1139Lys	True	False		Somatic	0					p.E1139K	NM_004239.3	NP_004230.2	WXS	Illumina HiSeq	Phase_I	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	3788	-			1139					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.3415G>A	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.785706	0.49997	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.07444	3.19	5.27	4.36	0.52297	.	0.167607	0.51477	D	0.000096	T	0.19725	0.0474	L	0.34521	1.04	0.50632	D	0.999884	D;D	0.89917	1.0;1.0	D;D	0.91635	0.982;0.999	T	0.01156	-1.1434	10	0.62326	D	0.03	.	15.583	0.76459	0.0:0.8616:0.1384:0.0	.	875;1139	F5H1Z0;Q15643	.;TRIPB_HUMAN	K	1139;875	ENSP00000267622:E1139K	ENSP00000267622:E1139K	E	-	1	0	TRIP11	91540658	1.000000	0.71417	0.729000	0.30791	0.253000	0.25986	7.773000	0.85462	1.158000	0.42547	0.563000	0.77884	GAA		0.338	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1	0			14:92470905
PDZRN3	23024	broad.mit.edu	37	3	73440202	73440202	+	Silent	SNP	G	G	A	rs538722275		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:73440202G>A	ENST00000263666.4	-	6	1434	c.1320C>T	c.(1318-1320)gaC>gaT	p.D440D	PDZRN3_ENST00000479530.1_Silent_p.D157D|PDZRN3_ENST00000466780.1_Silent_p.D97D|PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000462146.2_Silent_p.D97D|PDZRN3_ENST00000535920.1_Silent_p.D162D	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	440	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CGTCTTCATCGTCCGTCCGGT	0.443																																						ENST00000263666.4		NA																	0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1318-1320)gaC>gaT		PDZ domain containing ring finger 3							274.0	254.0	261.0					3																	73440202		2203	4300	6503	SO:0001819	synonymous_variant	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73440202G>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1320C>T	3.37:g.73440202G>A		True	False		Somatic	0				PDZRN3_ENST00000462146.2_Silent_p.D97D|PDZRN3_ENST00000535920.1_Silent_p.D162D|PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000479530.1_Silent_p.D157D|PDZRN3_ENST00000466780.1_Silent_p.D97D	p.D440D	NM_015009.1	NP_055824.1	WXS	Illumina HiSeq	Phase_I	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	6	1434	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	440			PDZ 2.		A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	ENST00000263666.4	37	c.1320C>T	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	G	8.064	0.768692	0.15983	.	.	ENSG00000121440	ENST00000494559	.	.	.	5.18	-9.21	0.00678	.	.	.	.	.	T	0.66327	0.2778	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74100	-0.3774	4	.	.	.	.	20.3542	0.98835	0.8963:0.0:0.1037:0.0	.	.	.	.	M	37	.	.	T	-	2	0	PDZRN3	73522892	0.432000	0.25554	0.086000	0.20670	0.897000	0.52465	-0.105000	0.10907	-1.917000	0.01074	-0.880000	0.02959	ACG		0.443	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	0	XM_041363		3:73440202
EPS8L2	64787	broad.mit.edu	37	11	722431	722431	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:722431G>A	ENST00000533256.1	+	14	1465	c.1090G>A	c.(1090-1092)Gca>Aca	p.A364T	EPS8L2_ENST00000318562.8_Missense_Mutation_p.A364T|EPS8L2_ENST00000530636.1_Missense_Mutation_p.A364T|EPS8L2_ENST00000526198.1_Missense_Mutation_p.A380T|AP006621.9_ENST00000527021.2_RNA			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	364					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCAGACATCGCACGCTCCGT	0.647																																						ENST00000533256.1		NA																	0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13						c.(1090-1092)Gca>Aca		EPS8-like 2							87.0	74.0	79.0					11																	722431		2203	4300	6503	SO:0001583	missense	64787					cytoplasm		g.chr11:722431G>A	AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.1090G>A	11.37:g.722431G>A	ENSP00000435585:p.Ala364Thr	False	False		Somatic	0				EPS8L2_ENST00000318562.8_Missense_Mutation_p.A364T|EPS8L2_ENST00000530636.1_Missense_Mutation_p.A364T|EPS8L2_ENST00000526198.1_Missense_Mutation_p.A380T|AP006621.9_ENST00000527021.2_RNA	p.A364T			WXS	Illumina HiSeq	Phase_I	Q9H6S3	ES8L2_HUMAN		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	14	1465	+		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	364					B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Missense_Mutation	SNP	ENST00000533256.1	37	c.1090G>A	CCDS31328.1	.	.	.	.	.	.	.	.	.	.	g	12.62	1.992138	0.35131	.	.	ENSG00000177106	ENST00000318562;ENST00000533256;ENST00000530636;ENST00000526198	T;T;T;T	0.61158	0.13;0.13;0.13;0.13	3.13	2.2	0.27929	.	0.089102	0.43919	U	0.000514	T	0.67896	0.2942	M	0.69823	2.125	0.09310	N	1	D;D	0.89917	0.999;1.0	P;P	0.61275	0.886;0.87	T	0.59225	-0.7494	10	0.87932	D	0	-11.1368	9.2022	0.37265	0.1144:0.0:0.8856:0.0	.	380;364	B7ZKL3;Q9H6S3	.;ES8L2_HUMAN	T	364;364;364;380	ENSP00000320828:A364T;ENSP00000435585:A364T;ENSP00000436035:A364T;ENSP00000436230:A380T	ENSP00000320828:A364T	A	+	1	0	EPS8L2	712431	0.964000	0.33143	0.005000	0.12908	0.689000	0.40095	3.519000	0.53458	0.664000	0.31047	0.486000	0.48141	GCA		0.647	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	0	NM_022772		11:722431
RBMS1	5937	broad.mit.edu	37	2	161159916	161159916	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:161159916T>C	ENST00000348849.3	-	5	915	c.485A>G	c.(484-486)aAa>aGa	p.K162R	RBMS1_ENST00000392753.3_Missense_Mutation_p.K162R|RBMS1_ENST00000409075.1_Missense_Mutation_p.K129R|RBMS1_ENST00000409289.2_Missense_Mutation_p.K129R|RBMS1_ENST00000409972.1_Missense_Mutation_p.K129R|RBMS1_ENST00000474820.1_5'UTR	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	162	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				DNA replication (GO:0006260)|RNA processing (GO:0006396)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)		PLA2R1/RBMS1(2)								TCCAAATGGTTTGAGCATATT	0.413																																						ENST00000348849.3		NA																PLA2R1/RBMS1(2)	0					NA						c.(484-486)aAa>aGa		RNA binding motif, single stranded interacting protein 1							155.0	136.0	142.0					2																	161159916		2203	4300	6503	SO:0001583	missense	5937				DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding	g.chr2:161159916T>C	D28482	CCDS2213.1	2q24.2	2013-02-12			ENSG00000153250	ENSG00000153250		"""RNA binding motif (RRM) containing"""	9907	protein-coding gene	gene with protein product	"""suppressor of cdc 2 (cdc13) with RNA binding motif 2"", ""c-myc gene single strand binding protein 2"""	602310	"""chromosome 2 open reading frame 12"""	C2orf12		8041632, 8134115, 7838710	Standard	NM_016836		Approved	SCR2, MSSP-1, MSSP-2, MSSP-3, YC1, HCC-4, DKFZp564H0764	uc002ubo.3	P29558	OTTHUMG00000132031	ENST00000348849.3:c.485A>G	2.37:g.161159916T>C	ENSP00000294904:p.Lys162Arg	True	False		Somatic	0				RBMS1_ENST00000409075.1_Missense_Mutation_p.K129R|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000392753.3_Missense_Mutation_p.K162R|RBMS1_ENST00000409289.2_Missense_Mutation_p.K129R|RBMS1_ENST00000409972.1_Missense_Mutation_p.K129R	p.K162R	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	WXS	Illumina HiSeq	Phase_I	P29558	RBMS1_HUMAN			5	915	-			162			RRM 2.		Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20	Missense_Mutation	SNP	ENST00000348849.3	37	c.485A>G	CCDS2213.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.291114	0.80914	.	.	ENSG00000153250	ENST00000348849;ENST00000409075;ENST00000409289;ENST00000392753;ENST00000409972	T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33	5.7	5.7	0.88788	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.29321	0.0730	N	0.25144	0.715	0.80722	D	1	B;B;B;P;B;B;B	0.51449	0.004;0.118;0.009;0.945;0.128;0.002;0.008	B;B;B;D;B;B;B	0.71870	0.02;0.275;0.07;0.975;0.179;0.044;0.131	T	0.04360	-1.0957	10	0.54805	T	0.06	.	15.9541	0.79871	0.0:0.0:0.0:1.0	.	129;28;162;162;28;129;162	D3DPB2;Q5CZ65;P29558;P29558-2;Q5CZ66;E7ETU5;B4DN88	.;.;RBMS1_HUMAN;.;.;.;.	R	162;129;129;162;129	ENSP00000294904:K162R;ENSP00000386347:K129R;ENSP00000386571:K129R;ENSP00000376508:K162R;ENSP00000387280:K129R	ENSP00000294904:K162R	K	-	2	0	RBMS1	160868162	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.040000	0.89188	2.163000	0.67991	0.533000	0.62120	AAA		0.413	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255043.4	0	NM_016836		2:161159916
PLXNB2	23654	broad.mit.edu	37	22	50716129	50716129	+	Missense_Mutation	SNP	G	G	C			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr22:50716129G>C	ENST00000449103.1	-	33	5227	c.5087C>G	c.(5086-5088)cCc>cGc	p.P1696R	PLXNB2_ENST00000359337.4_Missense_Mutation_p.P1696R			O15031	PLXB2_HUMAN	plexin B2	1696					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GATGAAGTGGGGGTTCTTGAG	0.627																																						ENST00000449103.1		NA																	0				breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(5086-5088)cCc>cGc		plexin B2							66.0	74.0	72.0					22																	50716129		2134	4260	6394	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50716129G>C		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.5087C>G	22.37:g.50716129G>C	ENSP00000409171:p.Pro1696Arg	True	False		Somatic	0				PLXNB2_ENST00000359337.4_Missense_Mutation_p.P1696R	p.P1696R			WXS	Illumina HiSeq	Phase_I	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	33	5227	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1696					A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.5087C>G	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.515467	0.85389	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000399964	T;T	0.70045	-0.45;-0.45	4.21	4.21	0.49690	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	0.084908	0.50627	D	0.000119	D	0.85265	0.5657	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89427	0.3714	10	0.87932	D	0	.	16.7466	0.85474	0.0:0.0:1.0:0.0	.	1696	O15031	PLXB2_HUMAN	R	1696;1696;326	ENSP00000409171:P1696R;ENSP00000352288:P1696R	ENSP00000352288:P1696R	P	-	2	0	PLXNB2	49058256	1.000000	0.71417	0.948000	0.38648	0.954000	0.61252	9.181000	0.94874	2.170000	0.68504	0.491000	0.48974	CCC		0.627	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	0	NM_012401		22:50716129
GPR18	2841	broad.mit.edu	37	13	99907388	99907388	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr13:99907388G>A	ENST00000340807.3	-	3	1295	c.739C>T	c.(739-741)Ccc>Tcc	p.P247S	UBAC2_ENST00000376440.2_Intron|GPR18_ENST00000397470.2_Missense_Mutation_p.P247S|UBAC2_ENST00000403766.3_Intron|GPR18_ENST00000397473.2_Missense_Mutation_p.P247S			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	247					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	ATGTGGAAGGGCATAAAGCAG	0.527																																						ENST00000340807.3		NA																	0				endometrium(2)|large_intestine(2)|lung(6)	10						c.(739-741)Ccc>Tcc		G protein-coupled receptor 18	Glycine(DB00145)						200.0	151.0	168.0					13																	99907388		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:99907388G>A	L42324	CCDS9491.1	13q32	2014-01-30			ENSG00000125245	ENSG00000125245		"""GPCR / Class A : Orphans"""	4472	protein-coding gene	gene with protein product		602042				9205118	Standard	NM_005292		Approved		uc010afv.3	Q14330	OTTHUMG00000017266	ENST00000340807.3:c.739C>T	13.37:g.99907388G>A	ENSP00000343428:p.Pro247Ser	True	False		Somatic	0				UBAC2_ENST00000376440.2_Intron|GPR18_ENST00000397473.2_Missense_Mutation_p.P247S|GPR18_ENST00000397470.2_Missense_Mutation_p.P247S|UBAC2_ENST00000403766.3_Intron	p.P247S			WXS	Illumina HiSeq	Phase_I	Q14330	GPR18_HUMAN			3	1295	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		247					Q6GTM3|Q96HI6|Q9H2L2	Missense_Mutation	SNP	ENST00000340807.3	37	c.739C>T	CCDS9491.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722418	0.89298	.	.	ENSG00000125245	ENST00000397473;ENST00000397470;ENST00000340807	T;T;T	0.80304	-1.36;-1.36;-1.36	5.88	5.88	0.94601	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.92143	0.7509	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92507	0.6013	9	.	.	.	-21.4099	20.2187	0.98312	0.0:0.0:1.0:0.0	.	247	Q14330	GPR18_HUMAN	S	247	ENSP00000380613:P247S;ENSP00000380610:P247S;ENSP00000343428:P247S	.	P	-	1	0	GPR18	98705389	1.000000	0.71417	0.904000	0.35570	0.964000	0.63967	9.476000	0.97823	2.780000	0.95670	0.655000	0.94253	CCC		0.527	GPR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045585.1	0			13:99907388
C4A	720	broad.mit.edu	37	6	31964274	31964274	+	Silent	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr6:31964274C>T	ENST00000428956.2	+	28	3657	c.3573C>T	c.(3571-3573)caC>caT	p.H1191H	C4A_ENST00000498271.1_Silent_p.H1191H	NM_007293.2	NP_009224.2	P0C0L4	CO4A_HUMAN	complement component 4A (Rodgers blood group)	1191					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement component C1q binding (GO:0001849)|endopeptidase inhibitor activity (GO:0004866)									Intravenous Immunoglobulin(DB00028)	TGGGTGCCCACGCAGCTGCCA	0.592																																						ENST00000428956.2		NA																	0					NA						c.(3571-3573)caC>caT		complement component 4A (Rodgers blood group)							63.0	76.0	72.0					6																	31964274		1553	3533	5086	SO:0001819	synonymous_variant	720							g.chr6:31964274C>T	L26261, M14823, X77491, AY224378	CCDS47404.1, CCDS59005.1	6p21.3	2014-09-17	2006-01-19		ENSG00000244731	ENSG00000244731		"""Blood group antigens"", ""Complement system"""	1323	protein-coding gene	gene with protein product		120810	"""complement component 4A"""				Standard	NM_001252204		Approved	CPAMD2, C4S, CO4, C4, C4A3, C4A2, C4A4, C4A6, C4B, RG		P0C0L4	OTTHUMG00000031186	ENST00000428956.2:c.3573C>T	6.37:g.31964274C>T		False	False		Somatic	0				C4A_ENST00000498271.1_Silent_p.H1191H	p.H1191H	NM_007293.2	NP_009224.2	WXS	Illumina HiSeq	Phase_I					28	3657	+			NA					A6H8M8|A6NHJ5|A7E2V2|B0QZR6|B0V2C8|B2RUT6|B7ZVZ6|P01028|P78445|Q13160|Q13906|Q14033|Q14835|Q4LE82|Q5JNX2|Q5JQM8|Q6P4R1|Q6U2E5|Q6U2E8|Q6U2F0|Q6U2F3|Q6U2F4|Q6U2F6|Q6U2F8|Q6U2G0|Q96EG2|Q96SA8|Q9NPK5|Q9UIP5	Silent	SNP	ENST00000428956.2	37	c.3573C>T	CCDS47404.1																																																																																				0.592	C4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076364.3	0	NM_007293		6:31964274
CNTN5	53942	broad.mit.edu	37	11	99872865	99872865	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:99872865G>A	ENST00000524871.1	+	9	1267	c.977G>A	c.(976-978)gGc>gAc	p.G326D	CNTN5_ENST00000528682.1_Missense_Mutation_p.G326D|CNTN5_ENST00000527185.1_Missense_Mutation_p.G326D|CNTN5_ENST00000279463.3_Missense_Mutation_p.G326D|CNTN5_ENST00000418526.2_Missense_Mutation_p.G252D	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	326	Ig-like C2-type 3.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TTTGCACTTGGCAAGTAAGTA	0.358																																						ENST00000524871.1		NA																	0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(976-978)gGc>gAc		contactin 5							81.0	78.0	79.0					11																	99872865		1853	4086	5939	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99872865G>A	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.977G>A	11.37:g.99872865G>A	ENSP00000435637:p.Gly326Asp	False	False		Somatic	0				CNTN5_ENST00000418526.2_Missense_Mutation_p.G252D|CNTN5_ENST00000527185.1_Missense_Mutation_p.G326D|CNTN5_ENST00000279463.3_Missense_Mutation_p.G326D|CNTN5_ENST00000528682.1_Missense_Mutation_p.G326D	p.G326D	NM_014361.3	NP_055176.1	WXS	Illumina HiSeq	Phase_I	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	9	1267	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	326			Ig-like C2-type 3.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.977G>A	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872029	0.91587	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28	5.68	5.68	0.88126	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94479	0.8223	H	0.98738	4.315	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96454	0.9336	10	0.87932	D	0	.	18.779	0.91924	0.0:0.0:1.0:0.0	.	326;252;326	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	D	326;326;326;252;326	ENSP00000433575:G326D;ENSP00000436185:G326D;ENSP00000435637:G326D;ENSP00000393229:G252D;ENSP00000279463:G326D	ENSP00000279463:G326D	G	+	2	0	CNTN5	99378075	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.476000	0.97823	2.682000	0.91365	0.591000	0.81541	GGC		0.358	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	0	NM_014361		11:99872865
POU2F1	5451	broad.mit.edu	37	1	167343484	167343484	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:167343484C>A	ENST00000541643.3	+	7	635	c.473C>A	c.(472-474)gCc>gAc	p.A158D	POU2F1_ENST00000429375.2_Intron|POU2F1_ENST00000420254.3_Missense_Mutation_p.A158D|POU2F1_ENST00000367862.5_Missense_Mutation_p.A170D|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367866.2_Missense_Mutation_p.A181D|POU2F1_ENST00000452019.1_Missense_Mutation_p.A158D			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	158					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GCCTCTGCTGCCACGCCCATG	0.617																																						ENST00000367862.5		NA																	0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						c.(508-510)gCc>gAc		POU class 2 homeobox 1							26.0	26.0	26.0					1																	167343484		2203	4299	6502	SO:0001583	missense	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167343484C>A	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.473C>A	1.37:g.167343484C>A	ENSP00000441285:p.Ala158Asp	False	False		Somatic	0				POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367866.2_Missense_Mutation_p.A181D|POU2F1_ENST00000541643.3_Missense_Mutation_p.A158D|POU2F1_ENST00000420254.3_Missense_Mutation_p.A158D|POU2F1_ENST00000452019.1_Missense_Mutation_p.A158D|POU2F1_ENST00000429375.2_Intron	p.A170D	NM_001198783.1	NP_001185712.1	WXS	Illumina HiSeq	Phase_I	P14859	PO2F1_HUMAN			6	744	+			158					B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	ENST00000541643.3	37	c.509C>A		.	.	.	.	.	.	.	.	.	.	C	37	6.377326	0.97520	.	.	ENSG00000143190	ENST00000367866;ENST00000452019;ENST00000492850;ENST00000367865;ENST00000420254;ENST00000541643;ENST00000367862;ENST00000443275	T;T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.77	5.77	0.91146	.	0.167697	0.37530	N	0.002053	D	0.84188	0.5417	L	0.52573	1.65	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.998	D;D;D;D	0.85130	0.991;0.996;0.997;0.99	D	0.84611	0.0678	10	0.72032	D	0.01	.	20.0589	0.97667	0.0:1.0:0.0:0.0	.	158;170;156;158	P14859-4;P14859-2;P14859-3;P14859	.;.;.;PO2F1_HUMAN	D	181;158;35;156;158;158;170;66	ENSP00000356840:A181D;ENSP00000391523:A158D;ENSP00000356839:A156D;ENSP00000414660:A158D;ENSP00000441285:A158D;ENSP00000356836:A170D;ENSP00000415993:A66D	ENSP00000356836:A170D	A	+	2	0	POU2F1	165610108	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.453000	0.80700	2.732000	0.93576	0.650000	0.86243	GCC		0.617	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	NM_002697		1:167343484
CFH	3075	broad.mit.edu	37	1	196714957	196714957	+	Silent	SNP	A	A	C			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:196714957A>C	ENST00000367429.4	+	21	3561	c.3321A>C	c.(3319-3321)ggA>ggC	p.G1107G		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1107	Sushi 19. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATTCTACAGGAAAATGTGGGC	0.398																																						ENST00000367429.4		NA																	0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(3319-3321)ggA>ggC		complement factor H							160.0	152.0	155.0					1																	196714957		2203	4300	6503	SO:0001819	synonymous_variant	3075				complement activation, alternative pathway	extracellular space		g.chr1:196714957A>C	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.3321A>C	1.37:g.196714957A>C		True	False		Somatic	0					p.G1107G	NM_000186.3	NP_000177.2	WXS	Illumina HiSeq	Phase_I	P08603	CFAH_HUMAN			21	3561	+			1107			Sushi 19.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Silent	SNP	ENST00000367429.4	37	c.3321A>C	CCDS1385.1																																																																																				0.398	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	0	NM_000186		1:196714957
TAF1	6872	broad.mit.edu	37	X	70603864	70603864	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chrX:70603864G>A	ENST00000373790.4	+	13	2048	c.1997G>A	c.(1996-1998)cGc>cAc	p.R666H	TAF1_ENST00000276072.3_Missense_Mutation_p.R687H|TAF1_ENST00000449580.1_Missense_Mutation_p.R666H|TAF1_ENST00000423759.1_Missense_Mutation_p.R687H	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	666	Histone acetyltransferase (HAT).				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|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)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TTTTTTATGCGCACACCTCAG	0.453																																						ENST00000449580.1		NA																	0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(1996-1998)cGc>cAc		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							220.0	177.0	192.0					X																	70603864		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70603864G>A		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.1997G>A	X.37:g.70603864G>A	ENSP00000362895:p.Arg666His	False	False		Somatic	0				TAF1_ENST00000423759.1_Missense_Mutation_p.R687H|TAF1_ENST00000373790.4_Missense_Mutation_p.R666H|TAF1_ENST00000276072.3_Missense_Mutation_p.R687H	p.R666H			WXS	Illumina HiSeq	Phase_I	P21675	TAF1_HUMAN			13	2048	+	Renal(35;0.156)	all_lung(315;0.000321)	666					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.1997G>A	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	32	5.171413	0.94807	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.10960	2.82;2.89;2.87;2.82	5.88	5.88	0.94601	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.35799	0.0944	M	0.72624	2.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.04140	-1.0974	10	0.87932	D	0	.	19.1532	0.93499	0.0:0.0:1.0:0.0	.	666;687	P21675;P21675-2	TAF1_HUMAN;.	H	666;666;687;687	ENSP00000362895:R666H;ENSP00000389000:R666H;ENSP00000406549:R687H;ENSP00000276072:R687H	ENSP00000276072:R687H	R	+	2	0	TAF1	70520589	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.230000	0.95299	2.474000	0.83562	0.600000	0.82982	CGC		0.453	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	0	NM_004606		X:70603864
SMG1	23049	broad.mit.edu	37	16	18858860	18858860	+	Silent	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr16:18858860G>A	ENST00000446231.2	-	38	6323	c.5911C>T	c.(5911-5913)Ctg>Ttg	p.L1971L	SMG1_ENST00000389467.3_Silent_p.L1971L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1971	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TGTTGTTGCAGCAAAACTCCC	0.493																																						ENST00000446231.2		NA																	0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(5911-5913)Ctg>Ttg		SMG1 phosphatidylinositol 3-kinase-related kinase							118.0	119.0	119.0					16																	18858860		2114	4241	6355	SO:0001819	synonymous_variant	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18858860G>A	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.5911C>T	16.37:g.18858860G>A		False	False		Somatic	0				SMG1_ENST00000389467.3_Silent_p.L1971L	p.L1971L			WXS	Illumina HiSeq	Phase_I	Q96Q15	SMG1_HUMAN			38	6323	-			1971			Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	c.5911C>T	CCDS45430.1																																																																																				0.493	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	0	NM_015092		16:18858860
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:112608394T>C	ENST00000341068.3	-	14	2381	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.T537A(5)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433																																						ENST00000341068.3		NA																	5	Substitution - Missense(5)	p.T537A(5)	lung(3)|kidney(1)|endometrium(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(1609-1611)Act>Gct		anaphase promoting complex subunit 1							109.0	106.0	107.0					2																	112608394		2203	4300	6503	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112608394T>C	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1609A>G	2.37:g.112608394T>C	ENSP00000339109:p.Thr537Ala	False	False		Somatic	0					p.T537A	NM_022662.3	NP_073153.1	WXS	Illumina HiSeq	Phase_I	Q9H1A4	APC1_HUMAN			14	2381	-			537					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.1609A>G	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.716|4.716	0.133071|0.133071	0.09032|0.09032	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	.|.	.|.	.|.	4.57|4.57	3.37|3.37	0.38596|0.38596	.|.	0.273018|.	0.23039|.	U|.	0.052629|.	T|T	0.55305|0.55305	0.1912|0.1912	L|L	0.45352|0.45352	1.415|1.415	0.37887|0.37887	D|D	0.930579|0.930579	B|.	0.14438|.	0.01|.	B|.	0.18263|.	0.021|.	T|T	0.53535|0.53535	-0.8425|-0.8425	9|5	0.08837|.	T|.	0.75|.	-8.0757|-8.0757	10.3103|10.3103	0.43704|0.43704	0.1479:0.0:0.0:0.8521|0.1479:0.0:0.0:0.8521	.|.	537|.	Q9H1A4|.	APC1_HUMAN|.	A|C	537|71	.|.	ENSP00000339109:T537A|.	T|Y	-|-	1|2	0|0	ANAPC1|ANAPC1	112324865|112324865	1.000000|1.000000	0.71417|0.71417	0.138000|0.138000	0.22173|0.22173	0.127000|0.127000	0.20565|0.20565	3.555000|3.555000	0.53727|0.53727	0.570000|0.570000	0.29347|0.29347	0.369000|0.369000	0.22263|0.22263	ACT|TAC		0.433	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	0	NM_022662		2:112608394
HSFY1P1	27437	broad.mit.edu	37	22	17308496	17308496	+	RNA	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr22:17308496G>A	ENST00000425038.1	+	0	133					NR_003607.1				heat shock transcription factor, Y-linked 1 pseudogene 1																		GAATCAACTGGTTCAAAAGCC	0.408																																						ENST00000425038.1		NA																	0					NA																																														0							g.chr22:17308496G>A	AY026053		22q11.2	2010-08-04	2010-08-04	2010-08-04	ENSG00000229027	ENSG00000229027			1846	pseudogene	pseudogene			"""cat eye syndrome chromosome region, candidate 8"", ""cat eye syndrome chromosome region, candidate 8 (non-protein coding)"""	CECR8		11381032	Standard	NR_003607		Approved	HSFYP1, HSFYL1	uc010gqr.1		OTTHUMG00000143727		22.37:g.17308496G>A		False	False		Somatic	0						NR_003607.1		WXS	Illumina HiSeq	Phase_I					0	133	+			NA						RNA	SNP	ENST00000425038.1	37																																																																																						0.408	HSFY1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000289790.2	0	NR_003607		22:17308496
NFKBIB	4793	broad.mit.edu	37	19	39395723	39395723	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:39395723G>A	ENST00000313582.5	+	2	282	c.248G>A	c.(247-249)gGc>gAc	p.G83D	NFKBIB_ENST00000392079.3_Missense_Mutation_p.G51D|NFKBIB_ENST00000572515.1_Missense_Mutation_p.G83D	NM_002503.4	NP_002494.2	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	83					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|signal transduction (GO:0007165)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TTCTCGGCCGGCACTGAGTAC	0.587																																					Pancreas(165;1492 2005 6979 7739 34483)	ENST00000392079.3		NA																	0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8						c.(151-153)gGc>gAc		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta							164.0	159.0	161.0					19																	39395723		2203	4300	6503	SO:0001583	missense	4793				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity	g.chr19:39395723G>A	L40407	CCDS12524.1, CCDS74362.1	19q13.1	2013-01-10				ENSG00000104825		"""Ankyrin repeat domain containing"""	7798	protein-coding gene	gene with protein product		604495				9763672	Standard	NM_002503		Approved	IKBB, TRIP9	uc002ojw.3	Q15653		ENST00000313582.5:c.248G>A	19.37:g.39395723G>A	ENSP00000312988:p.Gly83Asp	True	False		Somatic	0				NFKBIB_ENST00000313582.5_Missense_Mutation_p.G83D|NFKBIB_ENST00000572515.1_Missense_Mutation_p.G83D	p.G51D			WXS	Illumina HiSeq	Phase_I	Q15653	IKBB_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		2	250	+	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		83					A8K3F4|Q96BJ7	Missense_Mutation	SNP	ENST00000313582.5	37	c.152G>A	CCDS12524.1	.	.	.	.	.	.	.	.	.	.	G	4.067	0.010258	0.07912	.	.	ENSG00000104825	ENST00000509705;ENST00000313582;ENST00000392079	T;T	0.60424	0.19;0.69	4.94	3.91	0.45181	Ankyrin repeat-containing domain (4);	0.122338	0.37304	N	0.002151	T	0.33147	0.0853	N	0.02111	-0.68	0.09310	N	1	B;P;B	0.40107	0.409;0.703;0.409	B;B;B	0.42771	0.397;0.276;0.275	T	0.19160	-1.0314	10	0.41790	T	0.15	-22.9371	10.3219	0.43771	0.0919:0.0:0.9081:0.0	.	106;51;83	Q59EM7;G5E9C2;Q15653	.;.;IKBB_HUMAN	D	106;83;51	ENSP00000312988:G83D;ENSP00000375929:G51D	ENSP00000312988:G83D	G	+	2	0	NFKBIB	44087563	0.982000	0.34865	0.032000	0.17829	0.013000	0.08279	3.526000	0.53509	1.292000	0.44672	0.655000	0.94253	GGC		0.587	NFKBIB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438155.1	0	NM_002503		19:39395723
GLDN	342035	broad.mit.edu	37	15	51696848	51696848	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr15:51696848C>T	ENST00000335449.6	+	10	1609	c.1553C>T	c.(1552-1554)gCc>gTc	p.A518V	GLDN_ENST00000396399.2_Missense_Mutation_p.A394V	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	518	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		TCTGTTCTTGCCATGTTAGCA	0.378																																						ENST00000335449.6		NA																	0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1552-1554)gCc>gTc		gliomedin							145.0	141.0	142.0					15																	51696848		2196	4293	6489	SO:0001583	missense	342035				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane		g.chr15:51696848C>T	AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"""collomin"""	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.1553C>T	15.37:g.51696848C>T	ENSP00000335196:p.Ala518Val	False	False		Somatic	0				GLDN_ENST00000396399.2_Missense_Mutation_p.A394V	p.A518V	NM_181789.2	NP_861454.2	WXS	Illumina HiSeq	Phase_I	Q6ZMI3	GLDN_HUMAN		all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)	10	1609	+			518			Olfactomedin-like.		Q6UXZ7|Q7Z359	Missense_Mutation	SNP	ENST00000335449.6	37	c.1553C>T	CCDS10140.2	.	.	.	.	.	.	.	.	.	.	C	33	5.230301	0.95207	.	.	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.89123	-2.47;-2.47	5.8	5.8	0.92144	Olfactomedin-like (3);	0.000000	0.43110	D	0.000613	D	0.92899	0.7741	L	0.46741	1.465	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	D	0.91752	0.5413	10	0.42905	T	0.14	.	20.0693	0.97712	0.0:1.0:0.0:0.0	.	518	Q6ZMI3	GLDN_HUMAN	V	518;394;394	ENSP00000335196:A518V;ENSP00000379681:A394V	ENSP00000335196:A518V	A	+	2	0	GLDN	49484140	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.758000	0.94735	0.563000	0.77884	GCC		0.378	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2	0	NM_181789		15:51696848
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	WXS	Illumina HiSeq	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	NM_033360		12:25398284
RRN3P2	653390	broad.mit.edu	37	16	29110438	29110438	+	RNA	SNP	T	T	C			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr16:29110438T>C	ENST00000564580.1	+	0	1111							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.L368P(6)									TTGCAGTATCTTCAGAGTCTG	0.328																																						ENST00000564580.1		NA																	6	Substitution - Missense(6)	p.L368P(6)	endometrium(5)|kidney(1)		NA																																														0							g.chr16:29110438T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110438T>C		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	1111	+			NA						RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	t	5.164	0.215759	0.09810	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	U	0.000008	T	0.52645	0.1747	.	.	.	.	.	.	.	.	.	.	.	.	T	0.63580	-0.6605	5	0.56958	D	0.05	.	7.5159	0.27600	0.0:0.0:0.0:1.0	.	.	.	.	P	368	.	ENSP00000398611:L368P	L	+	2	0	AC009093.1	29017939	1.000000	0.71417	0.752000	0.31206	0.354000	0.29330	6.384000	0.73177	0.893000	0.36288	0.155000	0.16302	CTT		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	0	NR_003369		16:29110438
CPT1B	1375	broad.mit.edu	37	22	51015372	51015372	+	Missense_Mutation	SNP	G	G	A	rs569675787		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr22:51015372G>A	ENST00000360719.2	-	4	510	c.373C>T	c.(373-375)Cgc>Tgc	p.R125C	CHKB-CPT1B_ENST00000452668.1_5'Flank|CPT1B_ENST00000395650.2_Missense_Mutation_p.R125C|CPT1B_ENST00000440709.1_Missense_Mutation_p.R125C|CPT1B_ENST00000312108.7_Missense_Mutation_p.R125C|CPT1B_ENST00000457250.1_Missense_Mutation_p.R125C|CPT1B_ENST00000405237.3_Missense_Mutation_p.R125C|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_5'UTR	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	125					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		AGGGTTTGGCGGAAGAAGAAG	0.587											OREG0026685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(170;988 1933 25577 30295 48163)	ENST00000360719.2		NA																	0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(373-375)Cgc>Tgc		carnitine palmitoyltransferase 1B (muscle)							132.0	137.0	135.0					22																	51015372		2203	4300	6503	SO:0001583	missense	1375				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr22:51015372G>A	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.373C>T	22.37:g.51015372G>A	ENSP00000353945:p.Arg125Cys	True	False		Somatic	0	OREG0026685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	974	CPT1B_ENST00000312108.7_Missense_Mutation_p.R125C|CPT1B_ENST00000434492.2_5'UTR|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000440709.1_Missense_Mutation_p.R125C|CPT1B_ENST00000457250.1_Missense_Mutation_p.R125C|CPT1B_ENST00000395650.2_Missense_Mutation_p.R125C|CPT1B_ENST00000405237.3_Missense_Mutation_p.R125C	p.R125C	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	WXS	Illumina HiSeq	Phase_I	Q92523	CPT1B_HUMAN		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)	4	510	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	125					B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	ENST00000360719.2	37	c.373C>T	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169032	0.78339	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000395650;ENST00000417176	D;D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.91938	0.7447	M	0.85777	2.775	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;P;D	0.97110	0.997;0.852;1.0	D	0.92986	0.6410	10	0.87932	D	0	-26.6824	16.7373	0.85449	0.0:0.0:1.0:0.0	.	125;125;125	E9PCP2;B7Z4U4;Q92523	.;.;CPT1B_HUMAN	C	125	ENSP00000385486:R125C;ENSP00000312189:R125C;ENSP00000353945:R125C;ENSP00000409342:R125C;ENSP00000414713:R125C;ENSP00000379011:R125C;ENSP00000406316:R125C	ENSP00000312189:R125C	R	-	1	0	CPT1B	49362238	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.817000	0.62650	2.561000	0.86390	0.561000	0.74099	CGC		0.587	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	0	NM_152246		22:51015372
FAM3C	10447	broad.mit.edu	37	7	120991269	120991269	+	Silent	SNP	A	A	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:120991269A>T	ENST00000359943.3	-	9	735	c.522T>A	c.(520-522)acT>acA	p.T174T		NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C	174					multicellular organismal development (GO:0007275)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	cytokine activity (GO:0005125)			kidney(1)|lung(8)	9	all_neural(327;0.117)					AACCAAGATTAGTAATAGATG	0.428																																						ENST00000359943.3		NA																	0				kidney(1)|lung(8)	9						c.(520-522)acT>acA		family with sequence similarity 3, member C							74.0	71.0	72.0					7																	120991269		2203	4297	6500	SO:0001819	synonymous_variant	10447				multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity	g.chr7:120991269A>T	D87120	CCDS5782.1	7q22.1-q31.1	2014-08-14			ENSG00000196937	ENSG00000196937			18664	protein-coding gene	gene with protein product	"""predicted osteoblast protein"", ""interleukin-like EMT inducer"", ""interleukin-like epithelial-mesenchymal transition inducer"""	608618				12160727	Standard	NM_014888		Approved	GS3876, ILEI	uc010lkm.3	Q92520	OTTHUMG00000156979	ENST00000359943.3:c.522T>A	7.37:g.120991269A>T		False	False		Somatic	0					p.T174T	NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	WXS	Illumina HiSeq	Phase_I	Q92520	FAM3C_HUMAN			9	735	-	all_neural(327;0.117)		174					A6NDN2|A8K3R7	Silent	SNP	ENST00000359943.3	37	c.522T>A	CCDS5782.1																																																																																				0.428	FAM3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346945.1	0	NM_001040020		7:120991269
ADRA2B	151	broad.mit.edu	37	2	96780765	96780765	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:96780765C>T	ENST00000409345.3	-	1	1219	c.1124G>A	c.(1123-1125)gGc>gAc	p.G375D		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	375					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CACAAAAACGCCAATGACCAC	0.622																																						ENST00000409345.3		NA																	0				endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16						c.(1123-1125)gGc>gAc		adrenoceptor alpha 2B	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						51.0	58.0	56.0					2																	96780765		2197	4292	6489	SO:0001583	missense	151				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding	g.chr2:96780765C>T	M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"""GPCR / Class A : Adrenoceptors : alpha"""	282	protein-coding gene	gene with protein product		104260	"""adrenergic, alpha-2B-, receptor"""	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.1124G>A	2.37:g.96780765C>T	ENSP00000387281:p.Gly375Asp	False	False		Somatic	0					p.G375D	NM_000682.5	NP_000673	WXS	Illumina HiSeq	Phase_I	P18089	ADA2B_HUMAN			1	1219	-			378					Q4TUH9|Q53RF2|Q9BZK0	Missense_Mutation	SNP	ENST00000409345.3	37	c.1124G>A	CCDS56129.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308310	0.81247	.	.	ENSG00000222040	ENST00000409345	T	0.38560	1.13	5.61	5.61	0.85477	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.81346	0.4803	H	0.99682	4.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89685	0.3893	9	0.87932	D	0	.	17.1963	0.86893	0.0:1.0:0.0:0.0	.	378	P18089	ADA2B_HUMAN	D	375	ENSP00000387281:G375D	ENSP00000387281:G375D	G	-	2	0	ADRA2B	96144492	1.000000	0.71417	0.421000	0.26609	0.650000	0.38633	7.810000	0.86072	2.658000	0.90341	0.551000	0.68910	GGC		0.622	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1	0			2:96780765
ZFP82	284406	broad.mit.edu	37	19	36884698	36884698	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:36884698G>A	ENST00000392161.3	-	5	786	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	ZFP82_ENST00000392171.1_Missense_Mutation_p.R182C	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	182					regulation of transcription, DNA-templated (GO:0006355)|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(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGCTGTTGGCGCACTCTGAAC	0.438																																						ENST00000392161.3		NA																	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(544-546)Cgc>Tgc		ZFP82 zinc finger protein							98.0	87.0	91.0					19																	36884698		2203	4300	6503	SO:0001583	missense	284406				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36884698G>A	AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"""Zinc fingers, C2H2-type"", ""-"""	28682	protein-coding gene	gene with protein product			"""zinc finger protein 545"", ""zinc finger protein 82 homolog (mouse)"", ""zinc finger protein 82"""	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.544C>T	19.37:g.36884698G>A	ENSP00000431265:p.Arg182Cys	False	False		Somatic	0				ZFP82_ENST00000392171.1_Missense_Mutation_p.R182C	p.R182C	NM_133466.2	NP_597723.1	WXS	Illumina HiSeq	Phase_I	Q8N141	ZFP82_HUMAN			5	786	-			182					Q8NC63|Q8TF53	Missense_Mutation	SNP	ENST00000392161.3	37	c.544C>T	CCDS12493.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285544	0.40394	.	.	ENSG00000181007	ENST00000392161;ENST00000392171	T;T	0.16073	2.37;2.37	4.05	2.92	0.33932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37393	N	0.002115	T	0.26991	0.0661	L	0.43646	1.37	0.22911	N	0.998579	D	0.89917	1.0	D	0.63488	0.915	T	0.01977	-1.1236	10	0.35671	T	0.21	.	10.9206	0.47163	0.0:0.0:0.8124:0.1876	.	182	Q8N141	ZFP82_HUMAN	C	182	ENSP00000431265:R182C;ENSP00000446080:R182C	ENSP00000431265:R182C	R	-	1	0	ZFP82	41576538	0.000000	0.05858	0.991000	0.47740	0.979000	0.70002	-0.345000	0.07770	2.282000	0.76494	0.655000	0.94253	CGC		0.438	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	0	NM_133466		19:36884698
PRDM11	56981	broad.mit.edu	37	11	45246062	45246062	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:45246062C>A	ENST00000530656.1	+	7	1139	c.1139C>A	c.(1138-1140)gCa>gAa	p.A380E	PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000263765.4_Missense_Mutation_p.A380E|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000424263.2_Missense_Mutation_p.A346E			Q9NQV5	PRD11_HUMAN	PR domain containing 11	380							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						AGTCAGTGTGCAACAACAATG	0.582																																					NSCLC(118;1511 1736 6472 36603 43224)	ENST00000263765.4		NA																	0				endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(1138-1140)gCa>gAa		PR domain containing 11							104.0	110.0	108.0					11																	45246062		2203	4299	6502	SO:0001583	missense	56981							g.chr11:45246062C>A	AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.1139C>A	11.37:g.45246062C>A	ENSP00000435976:p.Ala380Glu	True	False		Somatic	0				PRDM11_ENST00000424263.2_Missense_Mutation_p.A346E|PRDM11_ENST00000530656.1_Missense_Mutation_p.A380E|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000528980.1_Intron	p.A380E			WXS	Illumina HiSeq	Phase_I	Q9NQV5	PRD11_HUMAN			8	1388	+			380					Q8N9F1	Missense_Mutation	SNP	ENST00000530656.1	37	c.1139C>A		.	.	.	.	.	.	.	.	.	.	C	3.853	-0.031534	0.07543	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000424263	T;T;T	0.23950	1.88;1.88;1.9	5.41	2.37	0.29283	.	0.371038	0.22974	N	0.053384	T	0.12220	0.0297	N	0.14661	0.345	0.09310	N	1	P	0.41848	0.763	B	0.39840	0.311	T	0.10965	-1.0607	10	0.25751	T	0.34	-4.2871	4.8943	0.13742	0.1119:0.3303:0.4654:0.0924	.	380	Q9NQV5	PRD11_HUMAN	E	380;380;346	ENSP00000263765:A380E;ENSP00000435976:A380E;ENSP00000394314:A346E	ENSP00000263765:A380E	A	+	2	0	PRDM11	45202638	0.994000	0.37717	0.003000	0.11579	0.009000	0.06853	3.098000	0.50259	0.656000	0.30886	-0.259000	0.10710	GCA		0.582	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	0	NM_020229		11:45246062
FBXW12	285231	broad.mit.edu	37	3	48436086	48436086	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:48436086G>A	ENST00000296438.5	+	11	1543	c.1357G>A	c.(1357-1359)Gac>Aac	p.D453N	FBXW12_ENST00000415155.1_Missense_Mutation_p.D383N|FBXW12_ENST00000436231.1_Missense_Mutation_p.D296N|FBXW12_ENST00000468158.1_Intron|FBXW12_ENST00000445170.1_Missense_Mutation_p.D434N	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	453										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAAAGTAAGTGACTCCAGCAT	0.358																																						ENST00000296438.5		NA																	0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1357-1359)Gac>Aac		F-box and WD repeat domain containing 12							155.0	144.0	148.0					3																	48436086		2203	4300	6503	SO:0001583	missense	285231							g.chr3:48436086G>A	AK097594, AY247969	CCDS2764.1, CCDS54577.1, CCDS54578.1	3p21.31	2011-07-01	2007-02-08	2004-07-21	ENSG00000164049	ENSG00000164049		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	20729	protein-coding gene	gene with protein product		609075	"""F-box only protein 35"", ""F-box and WD-40 domain protein 12"""	FBXO35		15040455	Standard	NM_207102		Approved	Fbw12	uc010hjv.3	Q6X9E4	OTTHUMG00000133530	ENST00000296438.5:c.1357G>A	3.37:g.48436086G>A	ENSP00000296438:p.Asp453Asn	True	False		Somatic	0				FBXW12_ENST00000468158.1_Intron|FBXW12_ENST00000415155.1_Missense_Mutation_p.D383N|FBXW12_ENST00000445170.1_Missense_Mutation_p.D434N|FBXW12_ENST00000436231.1_Missense_Mutation_p.D296N	p.D453N	NM_207102.2	NP_996985.2	WXS	Illumina HiSeq	Phase_I	Q6X9E4	FBW12_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	11	1543	+			453					E9PG36|Q494Y9|Q494Z0	Missense_Mutation	SNP	ENST00000296438.5	37	c.1357G>A	CCDS2764.1	.	.	.	.	.	.	.	.	.	.	G	3.756	-0.050498	0.07407	.	.	ENSG00000164049	ENST00000458736;ENST00000296438;ENST00000436231;ENST00000445170;ENST00000415155	T;T;T;T	0.29397	1.99;1.58;1.57;1.58	3.33	-4.85	0.03142	.	2.083830	0.03331	N	0.193337	T	0.11793	0.0287	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.11108	-1.0601	10	0.16420	T	0.52	-4.1095	0.9617	0.01397	0.3501:0.2821:0.2252:0.1426	.	352;434;383;453	E9PCA2;E9PG36;Q494Z0;Q6X9E4	.;.;.;FBW12_HUMAN	N	352;453;296;434;383	ENSP00000296438:D453N;ENSP00000413866:D296N;ENSP00000406139:D434N;ENSP00000414683:D383N	ENSP00000296438:D453N	D	+	1	0	FBXW12	48411090	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.732000	0.04904	-1.208000	0.02634	-0.282000	0.10007	GAC		0.358	FBXW12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257505.1	0	NM_207102		3:48436086
CNOT3	4849	broad.mit.edu	37	19	54646728	54646728	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:54646728G>A	ENST00000406403.1	+	1	1617	c.14G>A	c.(13-15)cGc>cAc	p.R5H	CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.R5H			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	5					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCGGACAAGCGCAAACTCCAA	0.527																																						ENST00000406403.1		NA																	0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(13-15)cGc>cAc		CCR4-NOT transcription complex, subunit 3							196.0	161.0	173.0					19																	54646728		2203	4300	6503	SO:0001583	missense	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54646728G>A	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.14G>A	19.37:g.54646728G>A	ENSP00000383954:p.Arg5His	False	False		Somatic	0				CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.R5H	p.R5H			WXS	Illumina HiSeq	Phase_I	O75175	CNOT3_HUMAN			1	1617	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		5					Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	c.14G>A	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	G	30	5.051461	0.93793	.	.	ENSG00000088038	ENST00000221232;ENST00000406403	T;T	0.73363	-0.74;-0.74	4.87	4.87	0.63330	Not CCR4-Not complex component, N-terminal (1);	0.135232	0.48286	D	0.000197	D	0.88328	0.6407	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.90703	0.4622	10	0.87932	D	0	-24.7136	15.3142	0.74059	0.0:0.0:1.0:0.0	.	5;5	B7Z6J7;O75175	.;CNOT3_HUMAN	H	5	ENSP00000221232:R5H;ENSP00000383954:R5H	ENSP00000221232:R5H	R	+	2	0	CNOT3	59338540	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.832000	0.86757	2.429000	0.82318	0.655000	0.94253	CGC		0.527	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	0	NM_014516		19:54646728
SEMA3D	223117	broad.mit.edu	37	7	84642125	84642125	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:84642125T>C	ENST00000284136.6	-	15	1784	c.1741A>G	c.(1741-1743)Atc>Gtc	p.I581V	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	581	PSI.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CACTGGGTGATTGGGTCGCCA	0.393																																					Ovarian(63;442 1191 17318 29975 31528)	ENST00000284136.6		NA																	0				NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						c.(1741-1743)Atc>Gtc		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D							131.0	120.0	124.0					7																	84642125		2203	4300	6503	SO:0001583	missense	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84642125T>C	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1741A>G	7.37:g.84642125T>C	ENSP00000284136:p.Ile581Val	False	False		Somatic	0				SEMA3D_ENST00000484038.1_5'UTR	p.I581V	NM_152754.2	NP_689967.2	WXS	Illumina HiSeq	Phase_I	O95025	SEM3D_HUMAN			15	1784	-			581			PSI.		A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	c.1741A>G	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	T	4.555	0.102996	0.08731	.	.	ENSG00000153993	ENST00000284136	T	0.20881	2.04	5.93	5.93	0.95920	.	0.228496	0.49305	D	0.000147	T	0.08935	0.0221	N	0.10733	0.035	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32824	-0.9892	10	0.15499	T	0.54	.	5.1256	0.14882	0.0:0.1083:0.1805:0.7112	.	581	O95025	SEM3D_HUMAN	V	581	ENSP00000284136:I581V	ENSP00000284136:I581V	I	-	1	0	SEMA3D	84480061	0.744000	0.28250	0.998000	0.56505	0.601000	0.36947	1.112000	0.31172	2.265000	0.75225	0.533000	0.62120	ATC		0.393	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	0	NM_152754		7:84642125
RET	5979	broad.mit.edu	37	10	43622039	43622039	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr10:43622039C>T	ENST00000355710.3	+	19	3288	c.3056C>T	c.(3055-3057)gCg>gTg	p.A1019V	RET_ENST00000340058.5_Missense_Mutation_p.A1019V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1019					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TTGGACCTTGCGGCGTCCACT	0.557		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(3055-3057)gCg>gTg		ret proto-oncogene	Sunitinib(DB01268)						252.0	239.0	243.0					10																	43622039		2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43622039C>T	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.3056C>T	10.37:g.43622039C>T	ENSP00000347942:p.Ala1019Val	False	False		Somatic	0				RET_ENST00000340058.5_Missense_Mutation_p.A1019V	p.A1019V	NM_020975.4	NP_066124.1	WXS	Illumina HiSeq	Phase_I	P07949	RET_HUMAN			19	3288	+		Ovarian(717;0.0423)	1019					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.3056C>T	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010130	0.75046	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	T;T	0.80304	-1.24;-1.36	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.83922	0.5359	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.998;0.999	D	0.85682	0.1301	10	0.52906	T	0.07	.	18.5126	0.90923	0.0:1.0:0.0:0.0	.	765;1019;1019	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	V	1019	ENSP00000347942:A1019V;ENSP00000344798:A1019V	ENSP00000344798:A1019V	A	+	2	0	RET	42942045	1.000000	0.71417	0.735000	0.30896	0.550000	0.35303	7.786000	0.85741	2.374000	0.81015	0.655000	0.94253	GCG		0.557	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	0	NM_020975		10:43622039
PLCD1	5333	broad.mit.edu	37	3	38049624	38049624	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:38049624G>A	ENST00000334661.4	-	14	2288	c.2066C>T	c.(2065-2067)gCg>gTg	p.A689V	PLCD1_ENST00000463876.1_Missense_Mutation_p.A710V	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	689	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TACCTCAAACGCAAACTCCGT	0.557																																						ENST00000463876.1		NA																	0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24						c.(2128-2130)gCg>gTg		phospholipase C, delta 1							120.0	115.0	117.0					3																	38049624		2203	4300	6503	SO:0001583	missense	5333				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:38049624G>A		CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"""EF-hand domain containing"""	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.2066C>T	3.37:g.38049624G>A	ENSP00000335600:p.Ala689Val	False	False		Somatic	0				PLCD1_ENST00000334661.4_Missense_Mutation_p.A689V	p.A710V	NM_001130964.1	NP_001124436.1	WXS	Illumina HiSeq	Phase_I	P51178	PLCD1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)	14	2482	-			689			C2.		B3KR14|Q86VN8	Missense_Mutation	SNP	ENST00000334661.4	37	c.2129C>T	CCDS2671.1	.	.	.	.	.	.	.	.	.	.	G	8.511	0.866463	0.17250	.	.	ENSG00000187091	ENST00000463876;ENST00000334661	T;T	0.68181	-0.31;-0.31	5.15	4.0	0.46444	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.475525	0.25677	N	0.029024	T	0.31702	0.0805	N	0.00525	-1.395	0.22648	N	0.998895	B;B	0.12013	0.005;0.003	B;B	0.08055	0.001;0.003	T	0.21143	-1.0254	10	0.23302	T	0.38	.	11.6796	0.51451	0.0:0.0:0.2929:0.7071	.	689;710	P51178;B3KR14	PLCD1_HUMAN;.	V	710;689	ENSP00000430344:A710V;ENSP00000335600:A689V	ENSP00000335600:A689V	A	-	2	0	PLCD1	38024628	0.000000	0.05858	0.989000	0.46669	0.071000	0.16799	0.102000	0.15272	0.932000	0.37266	-0.397000	0.06425	GCG		0.557	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253359.2	0			3:38049624
DPY19L2P1	554236	broad.mit.edu	37	7	35131521	35131521	+	RNA	SNP	G	G	A	rs200009436		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:35131521G>A	ENST00000436258.1	-	0	1848							Q6NXN4	D19P1_HUMAN	DPY19L2 pseudogene 1							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										ACAGCTTGACGCTTGCCATTG	0.398																																						ENST00000436258.1		NA																	0					NA																																														0							g.chr7:35131521G>A	BC066987		7p14.2	2014-03-18	2013-09-12		ENSG00000189212	ENSG00000189212			22305	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 1 (C. elegans)"""				Standard	NR_002833		Approved		uc031swy.1	Q6NXN4	OTTHUMG00000155026		7.37:g.35131521G>A		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	1848	-			NA					B4E2E3	RNA	SNP	ENST00000436258.1	37																																																																																						0.398	DPY19L2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338113.1	0			7:35131521
RYBP	23429	broad.mit.edu	37	3	72428210	72428210	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:72428210C>A	ENST00000477973.2	-	3	679	c.680G>T	c.(679-681)cGa>cTa	p.R227L		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	0					apoptotic process (GO:0006915)|histone H2A monoubiquitination (GO:0035518)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		TGATTTGTTTCGCTGGTCTTT	0.393																																						ENST00000477973.2		NA																	0				prostate(1)|upper_aerodigestive_tract(1)	2						c.(679-681)cGa>cTa		RING1 and YY1 binding protein							188.0	167.0	173.0					3																	72428210		1918	4139	6057	SO:0001583	missense	23429				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr3:72428210C>A	AF179286		3p14.2	2008-07-18			ENSG00000163602	ENSG00000163602			10480	protein-coding gene	gene with protein product	"""YY1 and E4TF1 associated factor 1"", ""ring1 interactor RYBP"", ""apoptin-associating protein 1"", ""death effector domain-associated factor"""	607535				10369680	Standard	NM_012234		Approved	YEAF1, AAP1, DEDAF	uc003dpe.3	Q8N488	OTTHUMG00000159190	ENST00000477973.2:c.680G>T	3.37:g.72428210C>A	ENSP00000419494:p.Arg227Leu	True	False		Somatic	0					p.R227L	NM_012234.5	NP_036366.3	WXS	Illumina HiSeq	Phase_I	Q8N488	RYBP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)	3	679	-		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)	NA					Q9P2W5|Q9UMW4	Missense_Mutation	SNP	ENST00000477973.2	37	c.680G>T		.	.	.	.	.	.	.	.	.	.	C	21.7	4.191335	0.78902	.	.	ENSG00000163602	ENST00000477973	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	T	0.65749	0.2721	.	.	.	.	.	.	.	.	.	.	.	.	T	0.68044	-0.5513	3	.	.	.	-29.6366	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	.	.	.	L	227	.	.	R	-	2	0	RYBP	72510900	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.592000	0.67543	2.941000	0.99782	0.655000	0.94253	CGA		0.393	RYBP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353762.3	0	NM_012234		3:72428210
SNX29P2	440352	broad.mit.edu	37	16	29376097	29376097	+	RNA	SNP	A	A	G			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr16:29376097A>G	ENST00000507381.1	+	0	836				SNX29P2_ENST00000398878.3_lincRNA			Q8IUI4	S29P2_HUMAN	sorting nexin 29 pseudogene 2									p.M128V(2)									CTCTGGGGACATGTTTAAAAA	0.478																																						ENST00000398878.3		NA																	2	Substitution - Missense(2)	p.M128V(2)	lung(2)		NA															43.0	51.0	49.0					16																	29376097		2190	4296	6486			0							g.chr16:29376097A>G	BX648280		16p11.2	2014-03-21	2011-08-16	2011-08-16	ENSG00000198106	ENSG00000198106			31914	pseudogene	pseudogene			"""RUN domain containing 2C"""	RUNDC2C			Standard	NR_002939		Approved		uc021tfw.1	Q8IUI4			16.37:g.29376097A>G		False	False		Somatic	0				SNX29P2_ENST00000507381.1_RNA				WXS	Illumina HiSeq	Phase_I					0	1525	+			NA						RNA	SNP	ENST00000507381.1	37			.	.	.	.	.	.	.	.	.	.	A	0.001	-3.694287	0.00006	.	.	ENSG00000198106	ENST00000398878;ENST00000507381;ENST00000356328	.	.	.	1.53	-2.05	0.07321	.	1.084360	0.06958	N	0.815784	T	0.13157	0.0319	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29181	-1.0020	8	0.02654	T	1	-10.7545	6.6064	0.22727	0.4858:0.0:0.5142:0.0	.	128;147	Q8IUI4;E9PDE2	RUN2B_HUMAN;.	V	128;147;128	.	ENSP00000348682:M128V	M	+	1	0	RUNDC2C	29283598	0.000000	0.05858	0.036000	0.18154	0.126000	0.20510	-0.101000	0.10973	-0.608000	0.05731	-1.731000	0.00696	ATG		0.478	SNX29P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361855.1	0	NR_002939		16:29376097
TSGA10IP	254187	broad.mit.edu	37	11	65714436	65714436	+	RNA	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:65714436G>A	ENST00000532620.1	+	0	464				TSGA10IP_ENST00000608857.1_RNA			Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						AAGAAGGACCGCAAGCCCAGG	0.597																																						ENST00000532620.1		NA																	0				endometrium(2)|kidney(3)|lung(9)	14								testis specific, 10 interacting protein							81.0	89.0	86.0					11																	65714436		2056	4204	6260			254187							g.chr11:65714436G>A	AK057442	CCDS66138.1	11q13.1	2014-03-25			ENSG00000175513	ENSG00000175513			26555	protein-coding gene	gene with protein product						14702039	Standard	NM_152762		Approved	FLJ32880, FAM161C	uc001ogk.1	Q3SY00	OTTHUMG00000166753		11.37:g.65714436G>A		False	False		Somatic	0				TSGA10IP_ENST00000608857.1_RNA				WXS	Illumina HiSeq	Phase_I	Q3SY00	T10IP_HUMAN			0	464	+			NA					Q3SXZ9|Q3SY01|Q96M26	RNA	SNP	ENST00000532620.1	37																																																																																						0.597	TSGA10IP-001	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000391373.2	0	NM_152762		11:65714436
KIAA1468	57614	broad.mit.edu	37	18	59919929	59919929	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr18:59919929C>T	ENST00000398130.2	+	12	1998	c.1766C>T	c.(1765-1767)gCg>gTg	p.A589V	KIAA1468_ENST00000256858.6_Missense_Mutation_p.A589V	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	589										autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				GTGGCATTTGCGCGTCATGTT	0.388																																						ENST00000256858.6		NA																	0				autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(1765-1767)gCg>gTg		KIAA1468							128.0	111.0	117.0					18																	59919929		2203	4300	6503	SO:0001583	missense	57614						binding	g.chr18:59919929C>T	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.1766C>T	18.37:g.59919929C>T	ENSP00000381198:p.Ala589Val	False	False		Somatic	0				KIAA1468_ENST00000398130.2_Missense_Mutation_p.A589V	p.A589V			WXS	Illumina HiSeq	Phase_I	Q9P260	K1468_HUMAN			12	2014	+		Colorectal(73;0.186)	589						Missense_Mutation	SNP	ENST00000398130.2	37	c.1766C>T	CCDS11979.2	.	.	.	.	.	.	.	.	.	.	C	34	5.376217	0.95945	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	T;T	0.44482	0.92;0.92	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65344	0.2682	M	0.66378	2.025	0.80722	D	1	D;D;D	0.89917	0.979;1.0;1.0	P;D;D	0.91635	0.802;0.999;0.998	T	0.61481	-0.7054	9	.	.	.	-14.7767	20.0621	0.97678	0.0:1.0:0.0:0.0	.	589;589;233	Q9P260-2;Q9P260;B2RD46	.;K1468_HUMAN;.	V	589	ENSP00000381198:A589V;ENSP00000256858:A589V	.	A	+	2	0	KIAA1468	58070909	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.723000	0.84788	2.750000	0.94351	0.655000	0.94253	GCG		0.388	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	0	NM_020854		18:59919929
UNC13A	23025	broad.mit.edu	37	19	17720864	17720864	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:17720864G>A	ENST00000519716.2	-	43	4695	c.4696C>T	c.(4696-4698)Cgg>Tgg	p.R1566W	UNC13A_ENST00000551649.1_Missense_Mutation_p.R1585W|UNC13A_ENST00000550896.1_Missense_Mutation_p.R1539W|UNC13A_ENST00000252773.7_Missense_Mutation_p.R1566W|UNC13A_ENST00000552293.1_Missense_Mutation_p.R1560W|UNC13A_ENST00000428389.2_Missense_Mutation_p.R1654W	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1566	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						ATGAACGGCCGGAAGATGCCA	0.517																																						ENST00000428389.2		NA																	0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(4960-4962)Cgg>Tgg		unc-13 homolog A (C. elegans)							122.0	130.0	127.0					19																	17720864		2154	4277	6431	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17720864G>A	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.4696C>T	19.37:g.17720864G>A	ENSP00000429562:p.Arg1566Trp	False	False		Somatic	0				UNC13A_ENST00000550896.1_Missense_Mutation_p.R1539W|UNC13A_ENST00000519716.2_Missense_Mutation_p.R1566W|UNC13A_ENST00000552293.1_Missense_Mutation_p.R1560W|UNC13A_ENST00000252773.7_Missense_Mutation_p.R1566W|UNC13A_ENST00000551649.1_Missense_Mutation_p.R1585W	p.R1654W			WXS	Illumina HiSeq	Phase_I	Q9UPW8	UN13A_HUMAN			44	4959	-			1566					E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.4960C>T	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007738	0.75046	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42;-0.42	4.13	4.13	0.48395	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	U	0.000000	D	0.84005	0.5377	M	0.89968	3.075	0.46981	D	0.999273	D	0.89917	1.0	D	0.85130	0.997	D	0.87780	0.2611	10	0.87932	D	0	-17.1577	13.9527	0.64129	0.0:0.0:1.0:0.0	.	1566	Q9UPW8	UN13A_HUMAN	W	1566;1654;1566;1585;1560;1539	ENSP00000429562:R1566W;ENSP00000400409:R1654W;ENSP00000252773:R1566W;ENSP00000447236:R1585W;ENSP00000447572:R1560W;ENSP00000446831:R1539W	ENSP00000252773:R1566W	R	-	1	2	UNC13A	17581864	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.923000	0.56469	1.869000	0.54173	0.478000	0.44815	CGG		0.517	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	0	XM_038604		19:17720864
CELSR2	1952	broad.mit.edu	37	1	109806332	109806332	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:109806332G>A	ENST00000271332.3	+	9	4995	c.4934G>A	c.(4933-4935)cGc>cAc	p.R1645H		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1645	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTCATGTTCCGCACGCGCCAG	0.662											OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3		NA																	0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(4933-4935)cGc>cAc		cadherin, EGF LAG seven-pass G-type receptor 2							74.0	72.0	73.0					1																	109806332		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109806332G>A	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.4934G>A	1.37:g.109806332G>A	ENSP00000271332:p.Arg1645His	False	False		Somatic	0	OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1422		p.R1645H	NM_001408.2	NP_001399.1	WXS	Illumina HiSeq	Phase_I	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	9	4995	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1645			Laminin G-like 2.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.4934G>A	CCDS796.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.924399	0.92319	.	.	ENSG00000143126	ENST00000271332	T	0.74737	-0.87	5.14	5.14	0.70334	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.86297	0.5899	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.87909	0.2696	9	0.87932	D	0	.	18.3881	0.90473	0.0:0.0:1.0:0.0	.	1645	Q9HCU4	CELR2_HUMAN	H	1645	ENSP00000271332:R1645H	ENSP00000271332:R1645H	R	+	2	0	CELSR2	109607855	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	9.156000	0.94705	2.686000	0.91538	0.561000	0.74099	CGC		0.662	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	0	NM_001408		1:109806332
ZNF148	7707	broad.mit.edu	37	3	124953158	124953158	+	Missense_Mutation	SNP	C	C	T	rs376674595		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:124953158C>T	ENST00000360647.4	-	8	1168	c.683G>A	c.(682-684)cGc>cAc	p.R228H	ZNF148_ENST00000485866.1_Missense_Mutation_p.R228H|ZNF148_ENST00000544464.1_Missense_Mutation_p.R23H|ZNF148_ENST00000497929.1_5'UTR|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.R228H|ZNF148_ENST00000492394.1_Missense_Mutation_p.R228H|ZNF148_ENST00000468369.1_Missense_Mutation_p.R36H	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	228					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TTCATCACAGCGAAATGGTTT	0.294																																						ENST00000360647.4		NA																	0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						c.(682-684)cGc>cAc		zinc finger protein 148		C	HIS/ARG	0,4406		0,0,2203	100.0	101.0	101.0		683	3.5	1.0	3		101	1,8593	1.2+/-3.3	0,1,4296	no	missense	ZNF148	NM_021964.2	29	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	benign	228/795	124953158	1,12999	2203	4297	6500	SO:0001583	missense	7707				cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chr3:124953158C>T	U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"""Zinc fingers, C2H2-type"""	12933	protein-coding gene	gene with protein product		601897	"""zinc finger protein 148 (pHZ-52)"""			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.683G>A	3.37:g.124953158C>T	ENSP00000353863:p.Arg228His	False	False		Somatic	0				ZNF148_ENST00000485866.1_Missense_Mutation_p.R228H|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000484491.1_Missense_Mutation_p.R228H|ZNF148_ENST00000492394.1_Missense_Mutation_p.R228H|ZNF148_ENST00000544464.1_Missense_Mutation_p.R23H|ZNF148_ENST00000468369.1_Missense_Mutation_p.R36H|SLC12A8_ENST00000423114.2_Intron	p.R228H	NM_021964.2	NP_068799.2	WXS	Illumina HiSeq	Phase_I	Q9UQR1	ZN148_HUMAN			8	1168	-			228					D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	ENST00000360647.4	37	c.683G>A	CCDS3031.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.738426	0.30774	0.0	1.16E-4	ENSG00000163848	ENST00000360647;ENST00000468369;ENST00000484491;ENST00000544464;ENST00000492394;ENST00000485866;ENST00000543574	T;T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23;2.23	5.32	3.49	0.39957	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.048859	0.85682	D	0.000000	T	0.13243	0.0321	L	0.35644	1.08	0.29133	N	0.879492	B;B	0.12013	0.005;0.001	B;B	0.06405	0.002;0.002	T	0.08027	-1.0742	10	0.44086	T	0.13	0.0288	9.7899	0.40699	0.0:0.786:0.0:0.214	.	36;228	G5E9X2;Q9UQR1	.;ZN148_HUMAN	H	228;36;228;23;228;228;228	ENSP00000353863:R228H;ENSP00000420102:R36H;ENSP00000420335:R228H;ENSP00000437916:R23H;ENSP00000419322:R228H;ENSP00000420448:R228H	ENSP00000353863:R228H	R	-	2	0	ZNF148	126435848	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.648000	0.46647	1.474000	0.48178	0.650000	0.86243	CGC		0.294	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	0	NM_021964		3:124953158
AIRE	326	broad.mit.edu	37	21	45710997	45710997	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr21:45710997C>T	ENST00000291582.5	+	8	1026	c.899C>T	c.(898-900)gCc>gTc	p.A300V	AIRE_ENST00000329347.4_Missense_Mutation_p.A93V|AIRE_ENST00000355347.4_Missense_Mutation_p.A93V	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	300					humoral immune response (GO:0006959)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|transcription regulatory region DNA binding (GO:0044212)|translation regulator activity (GO:0045182)|zinc ion binding (GO:0008270)	p.A103V(1)|p.A300V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GACGAGTGTGCCGTGTGTCGG	0.657									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy																													ENST00000291582.5		NA																	2	Substitution - Missense(2)	p.A103V(1)|p.A300V(1)	kidney(2)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14						c.(898-900)gCc>gTc		autoimmune regulator							99.0	83.0	89.0					21																	45710997		2203	4300	6503	SO:0001583	missense	326	Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy	Familial Cancer Database	APECED	positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding	g.chr21:45710997C>T	AB006684	CCDS13706.1	21q22.3	2014-09-17	2007-06-20		ENSG00000160224	ENSG00000160224		"""Zinc fingers, PHD-type"""	360	protein-coding gene	gene with protein product	"""autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"""	607358	"""autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)"""	APECED		9398840	Standard	NM_000383		Approved	PGA1, APS1	uc002zei.3	O43918	OTTHUMG00000086921	ENST00000291582.5:c.899C>T	21.37:g.45710997C>T	ENSP00000291582:p.Ala300Val	False	False		Somatic	0				AIRE_ENST00000355347.4_Missense_Mutation_p.A93V|AIRE_ENST00000329347.4_Missense_Mutation_p.A93V	p.A300V	NM_000383.3	NP_000374.1	WXS	Illumina HiSeq	Phase_I	O43918	AIRE_HUMAN		Colorectal(79;0.0806)	8	1026	+			300					B2RP50|O43922|O43932|O75745	Missense_Mutation	SNP	ENST00000291582.5	37	c.899C>T	CCDS13706.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920439	0.52653	.	.	ENSG00000160224	ENST00000291582;ENST00000337909;ENST00000397994;ENST00000355347;ENST00000329347	D;D;D	0.94497	-3.44;-3.44;-3.44	3.86	2.96	0.34315	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.44902	D	0.000411	D	0.93536	0.7937	N	0.21142	0.635	0.52099	D	0.999946	D;D	0.89917	0.999;1.0	D;D	0.87578	0.998;0.998	D	0.91753	0.5414	10	0.48119	T	0.1	-32.3727	8.9219	0.35617	0.2232:0.7768:0.0:0.0	.	103;300	B2RP50;O43918	.;AIRE_HUMAN	V	300;103;103;93;93	ENSP00000291582:A300V;ENSP00000347505:A93V;ENSP00000331055:A93V	ENSP00000291582:A300V	A	+	2	0	AIRE	44535425	1.000000	0.71417	0.089000	0.20774	0.196000	0.23810	6.738000	0.74822	0.725000	0.32318	0.462000	0.41574	GCC		0.657	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195842.2	0			21:45710997
PRX	57716	broad.mit.edu	37	19	40902713	40902713	+	Missense_Mutation	SNP	G	G	A	rs144305922		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:40902713G>A	ENST00000324001.7	-	7	1816	c.1546C>T	c.(1546-1548)Cgg>Tgg	p.R516W	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	516	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCTGGAAGCCGCACCTCCGGC	0.592																																						ENST00000324001.7		NA																	0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(1546-1548)Cgg>Tgg		periaxin		G	,TRP/ARG	0,4384		0,0,2192	76.0	89.0	85.0		,1546	2.5	0.0	19	dbSNP_134	85	1,8585		0,1,4292	no	utr-3,missense	PRX	NM_020956.2,NM_181882.2	,101	0,1,6484	AA,AG,GG		0.0116,0.0,0.0077	,probably-damaging	,516/1462	40902713	1,12969	2192	4293	6485	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40902713G>A	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1546C>T	19.37:g.40902713G>A	ENSP00000326018:p.Arg516Trp	False	False		Somatic	0				PRX_ENST00000291825.7_3'UTR	p.R516W	NM_181882.2	NP_870998.2	WXS	Illumina HiSeq	Phase_I	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	1816	-			516			55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.1546C>T	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.224920	0.58668	0.0	1.16E-4	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.02015	4.5	3.58	2.5	0.30297	.	1.860880	0.03022	N	0.150861	T	0.03871	0.0109	L	0.44542	1.39	0.36058	D	0.841268	D	0.63880	0.993	P	0.44561	0.453	T	0.39781	-0.9597	10	0.72032	D	0.01	.	6.0789	0.19931	0.0:0.212:0.5698:0.2181	.	516	Q9BXM0	PRAX_HUMAN	W	516	ENSP00000326018:R516W	ENSP00000326018:R516W	R	-	1	2	PRX	45594553	0.000000	0.05858	0.032000	0.17829	0.291000	0.27294	0.126000	0.15769	0.677000	0.31305	0.313000	0.20887	CGG		0.592	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	0	NM_020956		19:40902713
PPP2R2C	5522	broad.mit.edu	37	4	6380234	6380234	+	Silent	SNP	C	C	T	rs147944662	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr4:6380234C>T	ENST00000382599.4	-	3	450	c.234G>A	c.(232-234)ccG>ccA	p.P78P	PPP2R2C_ENST00000507294.1_Silent_p.P71P|PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000335585.5_Silent_p.P78P|PPP2R2C_ENST00000506140.1_Silent_p.P71P|PPP2R2C_ENST00000515571.1_Silent_p.P61P			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	78					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						AGTCAAACTCCGGCTCGTGGC	0.572																																						ENST00000335585.5		NA																	0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						c.(232-234)ccG>ccA		protein phosphatase 2, regulatory subunit B, gamma		C	,,,	3,4403	6.2+/-15.9	0,3,2200	145.0	136.0	139.0		213,213,183,234	-9.3	0.0	4	dbSNP_134	139	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PPP2R2C	NM_001206994.1,NM_001206995.1,NM_001206996.1,NM_181876.2	,,,	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	,,,	71/441,71/441,61/431,78/448	6380234	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	5522				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	g.chr4:6380234C>T	AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9306	protein-coding gene	gene with protein product	"""PP2A subunit B isoform gamma"""	605997	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"""			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.234G>A	4.37:g.6380234C>T		False	False		Somatic	0				PPP2R2C_ENST00000507294.1_Silent_p.P71P|PPP2R2C_ENST00000506140.1_Silent_p.P71P|PPP2R2C_ENST00000515571.1_Silent_p.P61P|PPP2R2C_ENST00000382599.4_Silent_p.P78P|PPP2R2C_ENST00000314348.8_Intron	p.P78P	NM_181876.2	NP_870991.1	WXS	Illumina HiSeq	Phase_I	Q9Y2T4	2ABG_HUMAN			3	257	-			78					A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Silent	SNP	ENST00000382599.4	37	c.234G>A																																																																																					0.572	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206889.2	0	NM_181876		4:6380234
FAT3	120114	broad.mit.edu	37	11	92599977	92599977	+	Missense_Mutation	SNP	G	G	A	rs376837097		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:92599977G>A	ENST00000298047.6	+	21	11746	c.11729G>A	c.(11728-11730)cGt>cAt	p.R3910H	FAT3_ENST00000533797.1_Missense_Mutation_p.R245H|FAT3_ENST00000525166.1_Missense_Mutation_p.R3760H|FAT3_ENST00000409404.2_Missense_Mutation_p.R3910H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3910	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R3910L(2)|p.R485L(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATCTCGGGCCGTGCTGTCAAC	0.627										TCGA Ovarian(4;0.039)																												ENST00000298047.6		NA																	3	Substitution - Missense(3)	p.R3910L(2)|p.R485L(1)	lung(3)	NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(11728-11730)cGt>cAt		FAT atypical cadherin 3							34.0	39.0	37.0					11																	92599977		2044	4192	6236	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92599977G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11729G>A	11.37:g.92599977G>A	ENSP00000298047:p.Arg3910His	False	False	TCGA Ovarian(4;0.039)	Somatic	0				FAT3_ENST00000533797.1_Missense_Mutation_p.R245H|FAT3_ENST00000409404.2_Missense_Mutation_p.R3910H|FAT3_ENST00000525166.1_Missense_Mutation_p.R3760H	p.R3910H			WXS	Illumina HiSeq	Phase_I	Q8TDW7	FAT3_HUMAN			21	11746	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3910			Laminin G-like.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.11729G>A		.	.	.	.	.	.	.	.	.	.	G	15.94	2.980435	0.53827	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	5.77	5.77	0.91146	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.72755	0.3500	L	0.61387	1.9	0.80722	D	1	P;B	0.39831	0.69;0.039	B;B	0.30495	0.116;0.023	T	0.71407	-0.4602	9	0.15499	T	0.54	.	19.9934	0.97376	0.0:0.0:1.0:0.0	.	3910;3910	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	H	3910;3910;3760;245	ENSP00000298047:R3910H;ENSP00000387040:R3910H;ENSP00000432586:R3760H;ENSP00000436399:R245H	ENSP00000298047:R3910H	R	+	2	0	FAT3	92239625	1.000000	0.71417	0.964000	0.40570	0.724000	0.41520	6.323000	0.72891	2.732000	0.93576	0.561000	0.74099	CGT		0.627	FAT3-201	KNOWN	basic	protein_coding	protein_coding		0	NM_001008781		11:92599977
