#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_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ACHE	43	hgsc.bcm.edu;ucsc.edu	37	7	100490365	100490367	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	GTT	GTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr7:100490365_100490367delGTT	ENST00000412389.1	-	2	1296_1298	c.1141_1143delAAC	c.(1141-1143)aacdel	p.N381del	ACHE_ENST00000241069.5_In_Frame_Del_p.N381del|ACHE_ENST00000428317.1_In_Frame_Del_p.N381del|ACHE_ENST00000302913.4_In_Frame_Del_p.N381del|ACHE_ENST00000411582.1_In_Frame_Del_p.N381del|ACHE_ENST00000419336.2_Intron			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	381					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	TGAGAGACTCGTTGTCTTTGCTG	0.631																																																	0																																										SO:0001651	inframe_deletion	43				CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"""Blood group antigens"""	108	protein-coding gene	gene with protein product	"""Yt blood group"""	100740	"""acetylcholinesterase (YT blood group)"", ""acetylcholinesterase (Yt blood group)"", ""acetylcholinesterase"""	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.1141_1143delAAC	7.37:g.100490365_100490367delGTT	ENSP00000394976:p.Asn381del	Somatic		WXS	Illumina HiSeq	Phase_I	A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	In_Frame_Del	DEL	ENST00000412389.1	37	CCDS5709.1																																																																																				0.631	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1		NM_015831	
ADAMTS17	170691	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	100594117	100594117	+	Silent	SNP	T	T	C			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr15:100594117T>C	ENST00000268070.4	-	16	2385	c.2280A>G	c.(2278-2280)ctA>ctG	p.L760L		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	760	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L760L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		AGTGCAGCGGTAGTTTGGTTG	0.532																																																	1	Substitution - coding silent(1)	kidney(1)											302.0	287.0	292.0					15																	100594117		2203	4300	6503	SO:0001819	synonymous_variant	170691			AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2280A>G	15.37:g.100594117T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q2I7G4|Q6ZN75	Silent	SNP	ENST00000268070.4	37	CCDS10383.1																																																																																				0.532	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1		NM_139057	
ARNTL2	56938	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	27529304	27529304	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr12:27529304delA	ENST00000266503.5	+	4	328	c.310delA	c.(310-312)aaafs	p.K104fs	ARNTL2_ENST00000539558.1_3'UTR|ARNTL2_ENST00000311001.5_Intron|ARNTL2_ENST00000395901.2_Intron|ARNTL2_ENST00000542388.1_Intron|ARNTL2_ENST00000544915.1_Frame_Shift_Del_p.K70fs|ARNTL2_ENST00000261178.5_Intron|ARNTL2_ENST00000546179.1_Intron			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	104	Interaction with PER2. {ECO:0000250|UniProtKB:Q2VPD4}.				circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					ACACCAAGTTAAAATGAAGGC	0.398																																																	0													130.0	117.0	122.0					12																	27529304		2203	4300	6503	SO:0001589	frameshift_variant	56938			AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"""Basic helix-loop-helix proteins"""	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.310delA	12.37:g.27529304delA	ENSP00000266503:p.Lys104fs	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Frame_Shift_Del	DEL	ENST00000266503.5	37	CCDS8712.1																																																																																				0.398	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403162.1		NM_020183	
ADAMTS20	80070	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	43777521	43777521	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr12:43777521G>A	ENST00000389420.3	-	31	4636	c.4637C>T	c.(4636-4638)tCa>tTa	p.S1546L		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1546	TSP type-1 13. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S1546L(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCTCTCACATGATGTTGAACA	0.343																																																	1	Substitution - Missense(1)	kidney(1)											138.0	128.0	131.0					12																	43777521		2203	4300	6503	SO:0001583	missense	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4637C>T	12.37:g.43777521G>A	ENSP00000374071:p.Ser1546Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	31	5.061367	0.93846	.	.	ENSG00000173157	ENST00000389420	T	0.59638	0.25	4.7	4.7	0.59300	.	0.000000	0.42548	D	0.000693	T	0.65228	0.2671	L	0.54323	1.7	0.80722	D	1	D	0.56035	0.974	P	0.55615	0.78	T	0.67803	-0.5576	10	0.62326	D	0.03	.	13.4994	0.61445	0.0:0.0:0.8434:0.1566	.	1546	P59510	ATS20_HUMAN	L	1546	ENSP00000374071:S1546L	ENSP00000374071:S1546L	S	-	2	0	ADAMTS20	42063788	0.981000	0.34729	0.030000	0.17652	0.910000	0.53928	3.774000	0.55341	2.539000	0.85634	0.655000	0.94253	TCA		0.343	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1		NM_025003	
CEP131	22994	broad.mit.edu;hgsc.bcm.edu	37	17	79166553	79166553	+	Silent	SNP	C	C	T			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr17:79166553C>T	ENST00000269392.4	-	19	2668	c.2421G>A	c.(2419-2421)ctG>ctA	p.L807L	AZI1_ENST00000575907.1_Intron|AZI1_ENST00000374782.3_Intron|AZI1_ENST00000450824.2_Silent_p.L804L	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		807					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)	p.L804L(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CCTGCTGGCCCAGCCGCTCCC	0.736																																																	1	Substitution - coding silent(1)	kidney(1)											12.0	15.0	14.0					17																	79166553		2042	4155	6197	SO:0001819	synonymous_variant	22994																														ENST00000269392.4:c.2421G>A	17.37:g.79166553C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6NHI8|B2RN11|Q96F50	Silent	SNP	ENST00000269392.4	37																																																																																					0.736	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1			
B3GNTL1	146712	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	80915092	80915092	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr17:80915092T>G	ENST00000320865.3	-	10	908	c.895A>C	c.(895-897)Atc>Ctc	p.I299L	B3GNTL1_ENST00000576599.1_Missense_Mutation_p.I188L	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	299							transferase activity, transferring glycosyl groups (GO:0016757)	p.I299L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			CCTTTCCTGATCTTGTTCTCG	0.622																																																	1	Substitution - Missense(1)	kidney(1)											176.0	161.0	166.0					17																	80915092		2203	4300	6503	SO:0001583	missense	146712			AY634364	CCDS32778.1	17q25.3	2013-02-22	2004-01-13	2004-01-14	ENSG00000175711	ENSG00000175711		"""Glycosyltransferase family 2 domain containing"""	21727	protein-coding gene	gene with protein product		615337					Standard	NM_001009905		Approved	B3GNT8	uc002kgg.1	Q67FW5	OTTHUMG00000177788	ENST00000320865.3:c.895A>C	17.37:g.80915092T>G	ENSP00000319979:p.Ile299Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q6GV30|Q8WUT3	Missense_Mutation	SNP	ENST00000320865.3	37	CCDS32778.1	.	.	.	.	.	.	.	.	.	.	T	15.81	2.941792	0.53079	.	.	ENSG00000175711	ENST00000320865	T	0.50548	0.74	3.67	3.67	0.42095	.	0.000000	0.85682	D	0.000000	T	0.46678	0.1405	M	0.78637	2.42	0.54753	D	0.999989	P	0.47545	0.897	B	0.41036	0.346	T	0.51601	-0.8685	9	.	.	.	-29.0067	8.8991	0.35484	0.0:0.0:0.0:1.0	.	299	Q67FW5	B3GNL_HUMAN	L	299	ENSP00000319979:I299L	.	I	-	1	0	B3GNTL1	78508381	1.000000	0.71417	0.997000	0.53966	0.510000	0.34073	2.809000	0.47971	1.654000	0.50703	0.533000	0.62120	ATC		0.622	B3GNTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438949.1		NM_001009905	
TMEM260	54916	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	57070637	57070637	+	Missense_Mutation	SNP	A	A	G	rs557113012		TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr14:57070637A>G	ENST00000261556.6	+	4	571	c.449A>G	c.(448-450)aAt>aGt	p.N150S	TMEM260_ENST00000538838.1_Missense_Mutation_p.N150S|TMEM260_ENST00000536419.1_Intron	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	150						integral component of membrane (GO:0016021)		p.N150S(1)									AGCTTAAACAATCTCTTTGTG	0.443																																																	1	Substitution - Missense(1)	kidney(1)											139.0	142.0	141.0					14																	57070637		2203	4300	6503	SO:0001583	missense	54916			AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 101"""	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.449A>G	14.37:g.57070637A>G	ENSP00000261556:p.Asn150Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A8KAN4|B3KPF5|Q86XE1	Missense_Mutation	SNP	ENST00000261556.6	37	CCDS9727.2	.	.	.	.	.	.	.	.	.	.	A	27.2	4.806847	0.90623	.	.	ENSG00000070269	ENST00000261556;ENST00000538838	T;T	0.39997	1.65;1.05	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.52549	0.1741	L	0.37507	1.11	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.41787	-0.9489	10	0.12430	T	0.62	-20.4052	16.1506	0.81618	1.0:0.0:0.0:0.0	.	150	Q9NX78	CN101_HUMAN	S	150	ENSP00000261556:N150S;ENSP00000441934:N150S	ENSP00000261556:N150S	N	+	2	0	C14orf101	56140390	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.903000	0.92573	2.206000	0.71126	0.528000	0.53228	AAT		0.443	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1		NM_017799	
REC114	283677	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	73843391	73843391	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr15:73843391C>T	ENST00000331090.6	+	4	474	c.446C>T	c.(445-447)cCt>cTt	p.P149L	C15orf60_ENST00000560581.1_Missense_Mutation_p.P121L	NM_001042367.1	NP_001035826.1	Q7Z4M0	RE114_HUMAN		149					DNA recombination (GO:0006310)|meiotic nuclear division (GO:0007126)			p.P149L(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						GTGCAGGTGCCTGATGGAAAC	0.537																																																	1	Substitution - Missense(1)	kidney(1)											60.0	63.0	62.0					15																	73843391		1973	4152	6125	SO:0001583	missense	283677																														ENST00000331090.6:c.446C>T	15.37:g.73843391C>T	ENSP00000328423:p.Pro149Leu	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000331090.6	37	CCDS45296.1	.	.	.	.	.	.	.	.	.	.	C	7.774	0.708123	0.15239	.	.	ENSG00000183324	ENST00000331090	T	0.44083	0.93	5.47	2.46	0.29980	.	0.736082	0.12880	N	0.431490	T	0.44371	0.1290	L	0.56769	1.78	0.09310	N	1	P	0.50819	0.939	P	0.48425	0.577	T	0.22103	-1.0226	10	0.40728	T	0.16	-26.1938	8.3226	0.32138	0.0:0.6225:0.2967:0.0809	.	149	Q7Z4M0	CO060_HUMAN	L	149	ENSP00000328423:P149L	ENSP00000328423:P149L	P	+	2	0	C15orf60	71630444	0.003000	0.15002	0.000000	0.03702	0.085000	0.17905	1.696000	0.37773	0.229000	0.21039	0.609000	0.83330	CCT		0.537	C15orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419069.1			
C2	717	broad.mit.edu;hgsc.bcm.edu	37	6	31912529	31912529	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr6:31912529C>T	ENST00000299367.5	+	16	2204	c.1928C>T	c.(1927-1929)tCc>tTc	p.S643F	C2_ENST00000469372.1_Missense_Mutation_p.S397F|C2_ENST00000442278.2_Missense_Mutation_p.S511F|CFB_ENST00000425368.2_5'Flank|C2_ENST00000468407.1_3'UTR|C2_ENST00000452323.2_Missense_Mutation_p.S429F|CFB_ENST00000556679.1_Missense_Mutation_p.S490F|CFB_ENST00000456570.1_Missense_Mutation_p.S490F|CFB_ENST00000477310.1_Missense_Mutation_p.S414F	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	643	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.S643F(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		GAGGTTGTCTCCCAAGAAAAA	0.557																																																	1	Substitution - Missense(1)	kidney(1)											100.0	97.0	98.0					6																	31912529		1511	2709	4220	SO:0001583	missense	717				CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.1928C>T	6.37:g.31912529C>T	ENSP00000299367:p.Ser643Phe	Somatic		WXS	Illumina HiSeq	Phase_I	B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	CCDS4728.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.91|16.91	3.254014|3.254014	0.59212|0.59212	.|.	.|.	ENSG00000166278|ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000383177|ENST00000469372;ENST00000497706;ENST00000452323;ENST00000299367;ENST00000375493;ENST00000442278;ENST00000556679;ENST00000456570;ENST00000477310	.|T;T;T;T;T;T;T;T	.|0.31510	.|1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49	5.39|5.39	-0.559|-0.559	0.11792|0.11792	.|Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.|1.126680	.|0.06875	.|N	.|0.801497	T|T	0.28797|0.28797	0.0714|0.0714	M|M	0.76328|0.76328	2.33|2.33	0.09310|0.09310	N|N	1|1	.|B;D;D;P;P;P;P;P;D	.|0.61080	.|0.005;0.975;0.989;0.956;0.914;0.944;0.914;0.465;0.989	.|B;P;P;P;P;P;P;B;P	.|0.58172	.|0.007;0.703;0.834;0.61;0.616;0.481;0.616;0.344;0.781	T|T	0.09885|0.09885	-1.0654|-1.0654	5|10	.|0.54805	.|T	.|0.06	-2.1251|-2.1251	5.0187|5.0187	0.14350|0.14350	0.0:0.4428:0.1494:0.4078|0.0:0.4428:0.1494:0.4078	.|.	.|490;614;429;397;511;328;511;643;430	.|B4E1Z4;B4DV48;B4DPF3;B4DQI1;E9PFN7;F8VNY6;B4DV20;P06681;E9PDZ0	.|.;.;.;.;.;.;.;CO2_HUMAN;.	S|F	417|397;430;429;643;328;511;490;490;414	.|ENSP00000418923:S397F;ENSP00000417482:S430F;ENSP00000392322:S429F;ENSP00000299367:S643F;ENSP00000395683:S511F;ENSP00000451848:S490F;ENSP00000410815:S490F;ENSP00000418996:S414F	.|ENSP00000299367:S643F	P|S	+|+	1|2	0|0	C2|CFB;C2;XXbac-BPG116M5.17	32020508|32020508	0.000000|0.000000	0.05858|0.05858	0.006000|0.006000	0.13384|0.13384	0.175000|0.175000	0.22909|0.22909	0.061000|0.061000	0.14366|0.14366	0.015000|0.015000	0.14971|0.14971	0.563000|0.563000	0.77884|0.77884	CCC|TCC		0.557	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			
CA5B	11238	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	15790716	15790716	+	Silent	SNP	C	C	T			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chrX:15790716C>T	ENST00000318636.3	+	4	574	c.438C>T	c.(436-438)gaC>gaT	p.D146D	CA5B_ENST00000454127.2_Silent_p.D146D	NM_007220.3	NP_009151.1	Q8WTZ4	CA5BL_HUMAN	carbonic anhydrase VB, mitochondrial	100						mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.D146D(1)		endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					ACACCGTGGACAGCAAATGCT	0.478																																																	1	Substitution - coding silent(1)	kidney(1)											157.0	145.0	149.0					X																	15790716		2203	4300	6503	SO:0001819	synonymous_variant	11238			AB021660	CCDS14171.1	Xp22.1	2008-08-13			ENSG00000169239	ENSG00000169239		"""Carbonic anhydrases"""	1378	protein-coding gene	gene with protein product		300230				10409679	Standard	XM_005274442		Approved		uc004cxe.3	Q9Y2D0	OTTHUMG00000021183	ENST00000318636.3:c.438C>T	X.37:g.15790716C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6NEZ4	Silent	SNP	ENST00000318636.3	37	CCDS14171.1																																																																																				0.478	CA5B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354933.1		NM_007220	
CACNG6	59285	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	54515324	54515324	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr19:54515324G>A	ENST00000252729.2	+	4	1254	c.664G>A	c.(664-666)Ggc>Agc	p.G222S	CACNG6_ENST00000352529.1_Missense_Mutation_p.G151S|CACNG6_ENST00000346968.2_Missense_Mutation_p.G176S	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	222					calcium ion transport (GO:0006816)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.G222S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		CTGGTCCCTGGGCTGCGGCGT	0.701																																																	1	Substitution - Missense(1)	kidney(1)											24.0	29.0	28.0					19																	54515324		2196	4280	6476	SO:0001583	missense	59285			AF288386	CCDS12870.1, CCDS12871.1	19q13.4	2008-05-02			ENSG00000130433	ENSG00000130433		"""Calcium channel subunits"""	13625	protein-coding gene	gene with protein product		606898				11170751	Standard	NM_145814		Approved		uc002qct.3	Q9BXT2	OTTHUMG00000064907	ENST00000252729.2:c.664G>A	19.37:g.54515324G>A	ENSP00000252729:p.Gly222Ser	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000252729.2	37	CCDS12870.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372862	0.82573	.	.	ENSG00000130433	ENST00000252729;ENST00000352529;ENST00000346968	T;T;T	0.69175	-0.38;1.56;1.56	3.76	3.76	0.43208	.	0.515069	0.18291	N	0.145712	T	0.68970	0.3059	L	0.29908	0.895	0.24229	N	0.995409	D;D;D	0.71674	0.998;0.997;0.99	D;D;D	0.70935	0.971;0.942;0.95	T	0.57400	-0.7818	10	0.32370	T	0.25	-3.403	11.4481	0.50136	0.0:0.0:1.0:0.0	.	151;176;222	A6NP74;A6NFR2;Q9BXT2	.;.;CCG6_HUMAN	S	222;151;176	ENSP00000252729:G222S;ENSP00000319135:G151S;ENSP00000319097:G176S	ENSP00000252729:G222S	G	+	1	0	CACNG6	59207136	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.278000	0.33179	2.421000	0.82119	0.558000	0.71614	GGC		0.701	CACNG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139359.1			
CELSR1	9620	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	46793698	46793698	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr22:46793698C>T	ENST00000262738.3	-	12	5573	c.5574G>A	c.(5572-5574)atG>atA	p.M1858I		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1858	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)	p.M1858I(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GTGCGTTGTTCATGTTCAGGG	0.622																																																	1	Substitution - Missense(1)	kidney(1)											130.0	80.0	97.0					22																	46793698		2203	4300	6503	SO:0001583	missense	9620			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.5574G>A	22.37:g.46793698C>T	ENSP00000262738:p.Met1858Ile	Somatic		WXS	Illumina HiSeq	Phase_I	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	9.965	1.223771	0.22457	.	.	ENSG00000075275	ENST00000262738	T	0.68025	-0.3	3.98	3.98	0.46160	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.85682	U	0.000000	T	0.57533	0.2060	L	0.42245	1.32	0.80722	D	1	B;B	0.28998	0.23;0.012	B;B	0.24006	0.05;0.009	T	0.57021	-0.7882	10	0.28530	T	0.3	.	16.0314	0.80579	0.0:1.0:0.0:0.0	.	179;1858	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	I	1858	ENSP00000262738:M1858I	ENSP00000262738:M1858I	M	-	3	0	CELSR1	45172362	1.000000	0.71417	0.995000	0.50966	0.563000	0.35712	5.189000	0.65098	1.948000	0.56530	0.491000	0.48974	ATG		0.622	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1		NM_014246	
COPA	1314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	160302290	160302290	+	Missense_Mutation	SNP	G	G	C	rs375088629		TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr1:160302290G>C	ENST00000241704.7	-	6	673	c.444C>G	c.(442-444)gaC>gaG	p.D148E	COPA_ENST00000368069.3_Missense_Mutation_p.D148E	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	148					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)	p.D148E(2)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATACTACCAAGTCTTCTGTGG	0.468																																																	2	Substitution - Missense(2)	kidney(2)						G	GLU/ASP,GLU/ASP	0,4406		0,0,2203	130.0	117.0	121.0		444,444	4.1	1.0	1		121	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	COPA	NM_001098398.1,NM_004371.3	45,45	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	148/1234,148/1225	160302290	1,13005	2203	4300	6503	SO:0001583	missense	1314			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.444C>G	1.37:g.160302290G>C	ENSP00000241704:p.Asp148Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T201|Q8IXZ9	Missense_Mutation	SNP	ENST00000241704.7	37	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505394	0.85282	0.0	1.16E-4	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.59364	0.27;0.27	5.05	4.13	0.48395	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.48003	0.1476	N	0.12746	0.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.61267	-0.7097	10	0.87932	D	0	-20.7266	12.412	0.55471	0.0817:0.0:0.9183:0.0	.	148;148	P53621;P53621-2	COPA_HUMAN;.	E	148	ENSP00000357048:D148E;ENSP00000241704:D148E	ENSP00000241704:D148E	D	-	3	2	COPA	158568914	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.348000	0.73009	1.354000	0.45846	0.561000	0.74099	GAC		0.468	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1		NM_004371	
CPS1	1373	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	211473212	211473212	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr2:211473212C>A	ENST00000233072.5	+	19	2516	c.2320C>A	c.(2320-2322)Ccc>Acc	p.P774T	CPS1_ENST00000451903.2_Missense_Mutation_p.P323T|CPS1_ENST00000430249.2_Missense_Mutation_p.P780T	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	774			P -> L (in CPS1D; the enzyme is inactive). {ECO:0000269|PubMed:20578160}.		anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.P780T(1)|p.P774T(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CACCAAGATTCCCCGCTGGGA	0.458																																																	2	Substitution - Missense(2)	kidney(2)											134.0	128.0	130.0					2																	211473212		2203	4300	6503	SO:0001583	missense	1373			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2320C>A	2.37:g.211473212C>A	ENSP00000233072:p.Pro774Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	C	33	5.194256	0.94960	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.98876	-5.2;-5.2;-5.2	6.16	6.16	0.99307	ATP-grasp fold, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.99569	0.9845	H	0.98005	4.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97994	1.0356	10	0.87932	D	0	-2.0161	20.8598	0.99761	0.0:1.0:0.0:0.0	.	784;774	Q59HF8;P31327	.;CPSM_HUMAN	T	780;782;774;323	ENSP00000402608:P780T;ENSP00000233072:P774T;ENSP00000406136:P323T	ENSP00000233072:P774T	P	+	1	0	CPS1	211181457	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	CCC		0.458	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			
DIP2A	23181	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	47970565	47970565	+	Missense_Mutation	SNP	G	G	A	rs572074409		TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr21:47970565G>A	ENST00000417564.2	+	23	2768	c.2747G>A	c.(2746-2748)cGc>cAc	p.R916H	DIP2A_ENST00000427143.2_Missense_Mutation_p.R852H|DIP2A_ENST00000318711.7_Missense_Mutation_p.R917H|DIP2A_ENST00000400274.1_Missense_Mutation_p.R912H			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	916					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.R852H(1)|p.R917H(1)|p.R916H(1)		cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		ACCAAACAGCGCTTTCTGGAA	0.552													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21343	0.0		0.0	False		,,,				2504	0.0																3	Substitution - Missense(3)	kidney(3)											77.0	77.0	77.0					21																	47970565		2037	4202	6239	SO:0001583	missense	23181			AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.2747G>A	21.37:g.47970565G>A	ENSP00000392066:p.Arg916His	Somatic		WXS	Illumina HiSeq	Phase_I	A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154551	0.57259	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000417564	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.29652	0.0740	N	0.22421	0.69	0.80722	D	1	B;B;B	0.18013	0.003;0.025;0.003	B;B;B	0.15870	0.002;0.014;0.004	T	0.06954	-1.0798	10	0.49607	T	0.09	-22.1421	11.6956	0.51542	0.0811:0.0:0.9189:0.0	.	917;852;916	E9PER1;E7EMA5;Q14689	.;.;DIP2A_HUMAN	H	912;852;917;916	ENSP00000383133:R912H;ENSP00000400528:R852H;ENSP00000323633:R917H;ENSP00000392066:R916H	ENSP00000323633:R917H	R	+	2	0	DIP2A	46794993	0.957000	0.32711	1.000000	0.80357	0.998000	0.95712	1.347000	0.33975	2.639000	0.89480	0.655000	0.94253	CGC		0.552	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1		NM_015151	
DNAJC18	202052	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	138749940	138749940	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr5:138749940G>A	ENST00000302060.5	-	8	1054	c.974C>T	c.(973-975)gCa>gTa	p.A325V		NM_152686.3	NP_689899.1	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18	325						integral component of membrane (GO:0016021)		p.A325V(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTATAATCCTGCCAAATTTGT	0.408																																																	1	Substitution - Missense(1)	kidney(1)											192.0	170.0	177.0					5																	138749940		2203	4300	6503	SO:0001583	missense	202052			AK024054	CCDS4214.1	5q31.2	2011-09-02		2005-08-09	ENSG00000170464	ENSG00000170464		"""Heat shock proteins / DNAJ (HSP40)"""	28429	protein-coding gene	gene with protein product							Standard	NM_152686		Approved	MGC29463	uc003len.3	Q9H819	OTTHUMG00000129225	ENST00000302060.5:c.974C>T	5.37:g.138749940G>A	ENSP00000302843:p.Ala325Val	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000302060.5	37	CCDS4214.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359425	0.82353	.	.	ENSG00000170464	ENST00000302060	T	0.59224	0.28	5.8	5.8	0.92144	Domain of unknown function DUF1977, DnaJ-like (1);	0.053627	0.85682	D	0.000000	T	0.78278	0.4258	M	0.85630	2.765	0.80722	D	1	D	0.65815	0.995	D	0.66716	0.946	T	0.80984	-0.1138	10	0.72032	D	0.01	1.4034	16.7737	0.85545	0.0:0.0:1.0:0.0	.	325	Q9H819	DJC18_HUMAN	V	325	ENSP00000302843:A325V	ENSP00000302843:A325V	A	-	2	0	DNAJC18	138777839	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.439000	0.73430	2.748000	0.94277	0.655000	0.94253	GCA		0.408	DNAJC18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374191.1		NM_152686	
EPX	8288	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	56277703	56277703	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr17:56277703G>A	ENST00000225371.5	+	10	1765	c.1655G>A	c.(1654-1656)gGg>gAg	p.G552E		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	552					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.G552E(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	AGGAGGATTGGGCTGGACCTG	0.637											OREG0024608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											68.0	66.0	67.0					17																	56277703		2203	4300	6503	SO:0001583	missense	8288			M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.1655G>A	17.37:g.56277703G>A	ENSP00000225371:p.Gly552Glu	Somatic	1014	WXS	Illumina HiSeq	Phase_I	Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676386	0.88445	.	.	ENSG00000121053	ENST00000225371	T	0.75938	-0.98	5.66	5.66	0.87406	.	0.096332	0.64402	D	0.000001	D	0.90872	0.7132	H	0.96518	3.835	0.50039	D	0.999845	D	0.89917	1.0	D	0.97110	1.0	D	0.93123	0.6526	10	0.87932	D	0	-20.1905	17.6144	0.88064	0.0:0.0:1.0:0.0	.	552	P11678	PERE_HUMAN	E	552	ENSP00000225371:G552E	ENSP00000225371:G552E	G	+	2	0	EPX	53632702	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.739000	0.68622	2.832000	0.97577	0.655000	0.94253	GGG		0.637	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1		NM_000502	
ERCC5	2073	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	103520522	103520522	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr13:103520522G>A	ENST00000355739.4	+	12	4016	c.2593G>A	c.(2593-2595)Gga>Aga	p.G865R	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.R1290K|ERCC5_ENST00000375954.1_Missense_Mutation_p.G98R	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	865	I-domain.			EGIPTVGCV -> GNTNCGLC (in Ref. 2; BAA03812). {ECO:0000305}.	DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)	p.G865R(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TTATACCGAAGGAATACCAAC	0.358			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""		E	1	Substitution - Missense(1)	kidney(1)											84.0	91.0	89.0					13																	103520522		2203	4300	6503	SO:0001583	missense	2073	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.2593G>A	13.37:g.103520522G>A	ENSP00000347978:p.Gly865Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006954	0.93287	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000375955;ENST00000375954	T;T	0.73789	-0.78;-0.78	5.02	5.02	0.67125	-3&apos (1);Helix-hairpin-helix motif, class 2 (1); exonuclease, C-terminal domain (1);5&apos (1);	0.116204	0.64402	D	0.000012	D	0.88142	0.6357	M	0.92268	3.29	0.80722	D	1	D;D	0.71674	0.998;0.977	P;P	0.58970	0.849;0.633	D	0.91422	0.5159	10	0.87932	D	0	-13.2318	18.34	0.90302	0.0:0.0:1.0:0.0	.	865;1290	P28715;Q59FZ7	ERCC5_HUMAN;.	R	1290;865;697;98	ENSP00000347978:G865R;ENSP00000365121:G98R	ENSP00000347978:G865R	G	+	1	0	ERCC5	102318523	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.854000	0.86942	2.353000	0.79882	0.491000	0.48974	GGA		0.358	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			
FAM27L	284123	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	21826096	21826096	+	lincRNA	SNP	G	G	T			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr17:21826096G>T	ENST00000426869.3	+	0	279					NR_028336.1		Q8N5T8	FA27L_HUMAN	family with sequence similarity 27-like									p.G25G(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		TCTTTTCTAGGATCAAGATGA	0.527																																																	1	Substitution - coding silent(1)	kidney(1)											43.0	45.0	45.0					17																	21826096		1907	4135	6042			284123			BC031617		17p11.2	2014-01-28				ENSG00000178130			32410	protein-coding gene	gene with protein product							Standard	NR_028336		Approved	MGC35151	uc002gyz.4	Q8N5T8			17.37:g.21826096G>T		Somatic		WXS	Illumina HiSeq	Phase_I		RNA	SNP	ENST00000426869.3	37																																																																																					0.527	FAM27L-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389059.2		NM_203392	
FOXRED1	55572	broad.mit.edu;hgsc.bcm.edu	37	11	126146919	126146919	+	Intron	SNP	C	C	T			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr11:126146919C>T	ENST00000263578.5	+	10	1175				FOXRED1_ENST00000532125.1_Intron|FOXRED1_ENST00000534011.1_Intron|FOXRED1_ENST00000442061.2_Intron	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1							integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		CTGGGCCTGTCCTTGTGTCCC	0.532																																																	0													42.0	39.0	40.0					11																	126146919		2201	4297	6498	SO:0001627	intron_variant	55572				CCDS8471.1	11q24.2	2006-02-03			ENSG00000110074	ENSG00000110074			26927	protein-coding gene	gene with protein product		613622				10497265	Standard	NM_017547		Approved	H17	uc001qdi.3	Q96CU9	OTTHUMG00000165827	ENST00000263578.5:c.1102-47C>T	11.37:g.126146919C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B3KN84|B4DHU2|Q71MG0|Q9BU39|Q9UKY9	RNA	SNP	ENST00000263578.5	37	CCDS8471.1																																																																																				0.532	FOXRED1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386434.1		NM_017547	
FLI1	2313	broad.mit.edu;ucsc.edu	37	11	128680490	128680490	+	Silent	SNP	C	C	T	rs200962985		TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr11:128680490C>T	ENST00000527786.2	+	9	1455	c.966C>T	c.(964-966)ggC>ggT	p.G322G	FLI1_ENST00000534087.2_Silent_p.G289G|FLI1_ENST00000525560.1_Silent_p.G129G|FLI1_ENST00000281428.8_Silent_p.G256G|FLI1_ENST00000344954.6_Silent_p.G289G	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	322					blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G322G(1)	EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		GGCGCTGGGGCGAGCGGAAAA	0.552			T	EWSR1	Ewing sarcoma																																			Dom	yes		11	11q24	2313	Friend leukemia virus integration 1		M	1	Substitution - coding silent(1)	kidney(1)						C	,	0,4390		0,0,2195	31.0	36.0	34.0		867,966	0.0	1.0	11		34	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous,coding-synonymous	FLI1	NM_001167681.2,NM_002017.3	,	0,1,6491	TT,TC,CC		0.0116,0.0,0.0077	,	289/420,322/453	128680490	1,12983	2195	4297	6492	SO:0001819	synonymous_variant	2313			M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"""Friend leukemia virus integration 1"""			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.966C>T	11.37:g.128680490C>T		Somatic		WXS	Illumina GAIIx	Phase_I	B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Silent	SNP	ENST00000527786.2	37	CCDS44768.1																																																																																				0.552	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2		NM_002017	
GIPR	2696	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	46174612	46174612	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr19:46174612G>A	ENST00000590918.1	+	4	341	c.242G>A	c.(241-243)cGt>cAt	p.R81H	GIPR_ENST00000304207.8_Intron|GIPR_ENST00000263281.3_Missense_Mutation_p.R81H	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	81					activation of adenylate cyclase activity (GO:0007190)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|endocrine pancreas development (GO:0031018)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|response to axon injury (GO:0048678)|response to calcium ion (GO:0051592)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gastric inhibitory peptide receptor activity (GO:0016519)|peptide hormone binding (GO:0017046)|transmembrane signaling receptor activity (GO:0004888)	p.R81H(1)		endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		GCCACTGCCCGTGCGTCCTGC	0.662																																																	1	Substitution - Missense(1)	kidney(1)											148.0	114.0	125.0					19																	46174612		2203	4300	6503	SO:0001583	missense	2696				CCDS12671.1	19q13.2-q13.3	2012-08-10				ENSG00000010310		"""GPCR / Class B : Glucagon receptors"""	4271	protein-coding gene	gene with protein product		137241				7490109	Standard	NM_000164		Approved		uc002pcu.1	P48546		ENST00000590918.1:c.242G>A	19.37:g.46174612G>A	ENSP00000467494:p.Arg81His	Somatic		WXS	Illumina HiSeq	Phase_I	B7WP14|B7ZKQ0|Q14401|Q16400|Q52M04|Q9UPI1	Missense_Mutation	SNP	ENST00000590918.1	37	CCDS12671.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.054920	0.75960	.	.	ENSG00000010310	ENST00000263281	T	0.53640	0.61	5.49	4.45	0.53987	GPCR, family 2, secretin-like, conserved site (1);GPCR, family 2, extracellular hormone receptor domain (3);	0.123156	0.37530	N	0.002059	T	0.38825	0.1055	L	0.34521	1.04	0.80722	D	1	P;P	0.47409	0.895;0.784	B;B	0.42771	0.295;0.397	T	0.24799	-1.0150	10	0.48119	T	0.1	.	11.9643	0.53025	0.0848:0.0:0.9151:0.0	.	81;81	P48546;P48546-2	GIPR_HUMAN;.	H	81	ENSP00000263281:R81H	ENSP00000263281:R81H	R	+	2	0	GIPR	50866452	0.040000	0.19996	0.856000	0.33681	0.971000	0.66376	0.582000	0.23834	1.318000	0.45170	0.542000	0.68232	CGT		0.662	GIPR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459640.1			
GPR148	344561	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	131487497	131487497	+	Missense_Mutation	SNP	G	G	T	rs113110453		TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr2:131487497G>T	ENST00000309926.4	+	1	855	c.773G>T	c.(772-774)cGg>cTg	p.R258L		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R258L(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					GGCTATTCCCGGGCCAGGGGC	0.577																																																	1	Substitution - Missense(1)	kidney(1)											119.0	112.0	114.0					2																	131487497		2203	4300	6503	SO:0001583	missense	344561			AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"""GPCR / Class A : Orphans"""	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.773G>T	2.37:g.131487497G>T	ENSP00000308908:p.Arg258Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q2M369|Q86SP7|Q86U87	Missense_Mutation	SNP	ENST00000309926.4	37	CCDS2163.1	.	.	.	.	.	.	.	.	.	.	.	15.04	2.714452	0.48622	.	.	ENSG00000173302	ENST00000309926	T	0.41758	0.99	2.87	-0.313	0.12754	GPCR, rhodopsin-like superfamily (1);	0.087538	0.41712	U	0.000825	T	0.35189	0.0923	N	0.24115	0.695	0.25094	N	0.990836	D	0.58268	0.982	P	0.56788	0.806	T	0.21415	-1.0246	10	0.72032	D	0.01	-7.6149	4.0145	0.09637	0.2374:0.0:0.578:0.1845	.	258	Q8TDV2	GP148_HUMAN	L	258	ENSP00000308908:R258L	ENSP00000308908:R258L	R	+	2	0	GPR148	131203967	1.000000	0.71417	0.001000	0.08648	0.848000	0.48234	2.781000	0.47750	-0.236000	0.09753	-0.521000	0.04368	CGG		0.577	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3		XM_293092	
GRIK2	2898	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	102503298	102503298	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr6:102503298A>G	ENST00000421544.1	+	15	2895	c.2405A>G	c.(2404-2406)aAt>aGt	p.N802S	GRIK2_ENST00000369134.4_Missense_Mutation_p.N753S|GRIK2_ENST00000318991.6_Missense_Mutation_p.N802S|GRIK2_ENST00000413795.1_Missense_Mutation_p.N802S|GRIK2_ENST00000369137.3_Missense_Mutation_p.N726S|GRIK2_ENST00000369138.1_Missense_Mutation_p.N802S	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	802					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.N802S(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TGGAGGGGCAATGGTTGCCCA	0.483																																																	2	Substitution - Missense(2)	kidney(2)											106.0	108.0	108.0					6																	102503298		2203	4300	6503	SO:0001583	missense	2898				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2405A>G	6.37:g.102503298A>G	ENSP00000397026:p.Asn802Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	A	13.46	2.242983	0.39697	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000369134;ENST00000540076	T;T;T;T;T;T	0.10860	2.83;2.83;2.83;2.83;2.83;2.83	5.68	5.68	0.88126	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.01661	0.0053	N	0.01352	-0.895	0.51482	D	0.999926	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.49204	-0.8964	10	0.23891	T	0.37	.	15.9826	0.80125	1.0:0.0:0.0:0.0	.	802;802;802	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	S	802;802;802;726;802;753;577	ENSP00000397026:N802S;ENSP00000405596:N802S;ENSP00000358134:N802S;ENSP00000358133:N726S;ENSP00000313276:N802S;ENSP00000358130:N753S	ENSP00000313276:N802S	N	+	2	0	GRIK2	102609991	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.339000	0.96797	2.176000	0.68965	0.477000	0.44152	AAT		0.483	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			
KHDRBS1	10657	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	32504213	32504213	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr1:32504213A>T	ENST00000327300.7	+	7	1335	c.1168A>T	c.(1168-1170)Agt>Tgt	p.S390C	KHDRBS1_ENST00000492989.1_Missense_Mutation_p.S351C|KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1			KH domain containing, RNA binding, signal transduction associated 1									p.S390C(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TTACAGCCAGAGTCAAGGGTG	0.408																																					Ovarian(173;401 1982 12359 31110 42403)												1	Substitution - Missense(1)	kidney(1)											125.0	110.0	115.0					1																	32504213		2203	4300	6503	SO:0001583	missense	10657			U78971	CCDS350.1, CCDS60067.1	1p32	2008-07-18			ENSG00000121774	ENSG00000121774			18116	protein-coding gene	gene with protein product	"""GAP-associated tyrosine phosphoprotein p62 (Sam68)"""	602489				1374686, 10564820	Standard	NM_006559		Approved	Sam68, p62, FLJ34027	uc001bub.4	Q07666	OTTHUMG00000003921	ENST00000327300.7:c.1168A>T	1.37:g.32504213A>T	ENSP00000313829:p.Ser390Cys	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000327300.7	37	CCDS350.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.085225	0.76642	.	.	ENSG00000121774	ENST00000327300;ENST00000492989;ENST00000355201	T;T	0.49432	0.78;0.79	5.33	4.04	0.47022	.	0.583053	0.20028	N	0.100765	T	0.48786	0.1519	L	0.50333	1.59	0.34601	D	0.716546	D;D	0.61697	0.983;0.99	B;P	0.53313	0.431;0.723	T	0.62798	-0.6778	10	0.72032	D	0.01	.	5.5018	0.16833	0.803:0.0:0.197:0.0	.	390;351	Q07666;Q07666-3	KHDR1_HUMAN;.	C	390;351;366	ENSP00000313829:S390C;ENSP00000417731:S351C	ENSP00000313829:S390C	S	+	1	0	KHDRBS1	32276800	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.170000	0.42443	2.157000	0.67596	0.533000	0.62120	AGT		0.408	KHDRBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011199.4		NM_006559	
KLK6	5653	broad.mit.edu;hgsc.bcm.edu	37	19	51462556	51462556	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr19:51462556G>A	ENST00000376851.3	-	6	1038	c.599C>T	c.(598-600)cCg>cTg	p.P200L	KLK6_ENST00000594641.1_Missense_Mutation_p.P200L|KLK6_ENST00000391808.1_Missense_Mutation_p.P93L|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000310157.2_Missense_Mutation_p.P200L|CTB-147C22.8_ENST00000594939.1_RNA|KLK6_ENST00000456750.2_Missense_Mutation_p.P93L|KLK6_ENST00000376853.4_Missense_Mutation_p.R72C	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	200	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amyloid precursor protein metabolic process (GO:0042982)|central nervous system development (GO:0007417)|collagen catabolic process (GO:0030574)|hormone metabolic process (GO:0042445)|myelination (GO:0042552)|neuron death (GO:0070997)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|protein autoprocessing (GO:0016540)|regulation of cell differentiation (GO:0045595)|regulation of neuron projection development (GO:0010975)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)	p.P200L(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		ACATACCAGCGGACCCCCAGA	0.527																																																	1	Substitution - Missense(1)	kidney(1)											130.0	120.0	124.0					19																	51462556		2203	4300	6503	SO:0001583	missense	5653			U62801	CCDS12811.1, CCDS42599.1	19q13.3	2011-09-07	2006-10-27			ENSG00000167755		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6367	protein-coding gene	gene with protein product		602652	"""protease, serine, 18"", ""kallikrein 6 (neurosin, zyme)"""	PRSS9, PRSS18		9003450, 16800724, 16800723	Standard	NM_002774		Approved	Bssp, Klk7, neurosin	uc002pui.3	Q92876		ENST00000376851.3:c.599C>T	19.37:g.51462556G>A	ENSP00000366047:p.Pro200Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A6NJA1|A8MW09|Q6H301	Missense_Mutation	SNP	ENST00000376851.3	37	CCDS12811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	14.33|14.33	2.503903|2.503903	0.44558|0.44558	.|.	.|.	ENSG00000167755|ENSG00000167755	ENST00000310157;ENST00000376851;ENST00000391808;ENST00000456750|ENST00000376853	D;D;D;D|D	0.98684|0.83506	-5.07;-5.07;-5.07;-5.07|-1.73	3.89|3.89	3.89|3.89	0.44902|0.44902	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	.|.	.|.	.|.	.|.	D|D	0.91334|0.91334	0.7267|0.7267	H|H	0.99498|0.99498	4.595|4.595	0.80722|0.80722	D|D	1|1	D;D|P	0.89917|0.50710	1.0;1.0|0.938	D;D|P	0.97110|0.45099	0.996;1.0|0.469	D|D	0.94608|0.94608	0.7802|0.7802	9|9	0.87932|0.87932	D|D	0|0	.|.	13.7773|13.7773	0.63062|0.63062	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	200;93|72	Q92876;Q92876-2|E7ETY0	KLK6_HUMAN;.|.	L|C	200;200;93;93|72	ENSP00000309148:P200L;ENSP00000366047:P200L;ENSP00000375684:P93L;ENSP00000409241:P93L|ENSP00000366049:R72C	ENSP00000309148:P200L|ENSP00000366049:R72C	P|R	-|-	2|1	0|0	KLK6|KLK6	56154368|56154368	1.000000|1.000000	0.71417|0.71417	0.341000|0.341000	0.25589|0.25589	0.018000|0.018000	0.09664|0.09664	8.539000|8.539000	0.90637|0.90637	2.156000|2.156000	0.67533|0.67533	0.645000|0.645000	0.84053|0.84053	CCG|CGC		0.527	KLK6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465060.1		NM_002774	
LRP1B	53353	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	142238027	142238027	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr2:142238027G>T	ENST00000389484.3	-	3	1252	c.281C>A	c.(280-282)tCc>tAc	p.S94Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	94	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.S94Y(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCACAGCTGGGATAAATGAAC	0.433										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												1	Substitution - Missense(1)	kidney(1)											119.0	102.0	108.0					2																	142238027		2203	4300	6503	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.281C>A	2.37:g.142238027G>T	ENSP00000374135:p.Ser94Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010424	0.54361	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95980	-3.87	5.51	5.51	0.81932	.	0.140035	0.48286	D	0.000188	D	0.96589	0.8887	M	0.73217	2.22	0.33736	D	0.618827	D	0.65815	0.995	D	0.63283	0.913	D	0.96344	0.9253	10	0.15499	T	0.54	.	15.2886	0.73849	0.0:0.1396:0.8604:0.0	.	94	Q9NZR2	LRP1B_HUMAN	Y	94;30	ENSP00000374135:S94Y	ENSP00000374135:S94Y	S	-	2	0	LRP1B	141954497	1.000000	0.71417	0.986000	0.45419	0.980000	0.70556	4.463000	0.60128	2.755000	0.94549	0.650000	0.86243	TCC		0.433	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2		NM_018557	
MED12	9968	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	70341181	70341181	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chrX:70341181G>T	ENST00000374080.3	+	6	772	c.740G>T	c.(739-741)gGa>gTa	p.G247V	MED12_ENST00000333646.6_Missense_Mutation_p.G247V|MED12_ENST00000374102.1_Missense_Mutation_p.G247V			Q93074	MED12_HUMAN	mediator complex subunit 12	247					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.G247V(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CCATAGGATGGAATGCTGGAC	0.488			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																																	Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	2	Substitution - Missense(2)	kidney(2)											116.0	104.0	108.0					X																	70341181		1946	4125	6071	SO:0001583	missense	9968			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.740G>T	X.37:g.70341181G>T	ENSP00000363193:p.Gly247Val	Somatic		WXS	Illumina HiSeq	Phase_I	O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	20.7	4.032206	0.75504	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.72282	-0.62;-0.61;-0.61;-0.64	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.85008	0.5599	M	0.78456	2.415	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.97110	0.998;0.998;1.0;0.995	D	0.86539	0.1827	10	0.87932	D	0	-8.3415	18.4857	0.90828	0.0:0.0:1.0:0.0	.	247;94;247;247	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	V	247;247;247;247;215	ENSP00000333125:G247V;ENSP00000363215:G247V;ENSP00000363193:G247V;ENSP00000414203:G215V	ENSP00000333125:G247V	G	+	2	0	MED12	70257906	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.381000	0.97205	2.562000	0.86427	0.600000	0.82982	GGA		0.488	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1		NM_005120	
MEF2A	4205	hgsc.bcm.edu	37	15	100211780	100211780	+	Missense_Mutation	SNP	A	A	G	rs201205600		TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr15:100211780A>G	ENST00000354410.5	+	5	943	c.314A>G	c.(313-315)tAt>tGt	p.Y105C	MEF2A_ENST00000449277.2_Intron|MEF2A_ENST00000453228.2_Intron|MEF2A_ENST00000338042.6_Intron|MEF2A_ENST00000557942.1_Intron|MEF2A_ENST00000557785.1_Intron|MEF2A_ENST00000558812.1_Intron	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	105					apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stress-activated MAPK cascade (GO:0051403)|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 from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)	p.Y105C(2)		endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			GATACTTCATATGTGCTAACT	0.343																																																	2	Substitution - Missense(2)	prostate(1)|central_nervous_system(1)											60.0	51.0	54.0					15																	100211780		1833	4073	5906	SO:0001583	missense	4205				CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"""Myocyte enhancer factors"""	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000354410.5:c.314A>G	15.37:g.100211780A>G	ENSP00000346389:p.Tyr105Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Missense_Mutation	SNP	ENST00000354410.5	37	CCDS45362.1	.	.	.	.	.	.	.	.	.	.	A	19.84	3.902360	0.72754	.	.	ENSG00000068305	ENST00000354410	T	0.65364	-0.15	5.42	5.42	0.78866	Holliday junction regulator protein family C-terminal repeat (1);	0.336013	0.36628	N	0.002491	T	0.77505	0.4140	M	0.76574	2.34	0.80722	D	1	P;P	0.47910	0.902;0.881	P;P	0.62014	0.897;0.804	T	0.78720	-0.2094	10	0.51188	T	0.08	-12.8212	15.739	0.77870	1.0:0.0:0.0:0.0	.	105;105	Q02078;Q02078-5	MEF2A_HUMAN;.	C	105	ENSP00000346389:Y105C	ENSP00000346389:Y105C	Y	+	2	0	MEF2A	98029303	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.910000	0.92685	2.184000	0.69523	0.379000	0.24179	TAT		0.343	MEF2A-001	KNOWN	overlapping_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000415980.1			
MON1B	22879	hgsc.bcm.edu;ucsc.edu	37	16	77228407	77228409	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	CCT	CCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr16:77228407_77228409delCCT	ENST00000248248.3	+	4	1001_1003	c.651_653delCCT	c.(649-654)gacctc>gac	p.L218del	MON1B_ENST00000439557.2_In_Frame_Del_p.L109del|MON1B_ENST00000545553.1_In_Frame_Del_p.L72del|MON1B_ENST00000320859.6_Intron	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	218										breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						AGAACTATGACCTCCGCCGCCTG	0.631																																																	0																																										SO:0001651	inframe_deletion	22879			BC024277	CCDS10925.1, CCDS67082.1, CCDS67083.1	16q23.1	2013-08-21	2013-08-21		ENSG00000103111	ENSG00000103111			25020	protein-coding gene	gene with protein product		608954	"""MON1 homolog B (yeast)"""			10048485	Standard	NM_014940		Approved	SAND2, HSRG1, KIAA0872	uc002fez.3	Q7L1V2	OTTHUMG00000137618	ENST00000248248.3:c.651_653delCCT	16.37:g.77228407_77228409delCCT	ENSP00000248248:p.Leu218del	Somatic		WXS	Illumina HiSeq	Phase_I	B4DDZ0|O94949	In_Frame_Del	DEL	ENST00000248248.3	37	CCDS10925.1																																																																																				0.631	MON1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269036.2		NM_014940	
MS4A3	932	broad.mit.edu;hgsc.bcm.edu	37	11	59834429	59834429	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr11:59834429G>T	ENST00000278865.3	+	5	430	c.357G>T	c.(355-357)caG>caT	p.Q119H	MS4A3_ENST00000534744.1_Missense_Mutation_p.Q73H|MS4A3_ENST00000358152.2_Missense_Mutation_p.Q73H|MS4A3_ENST00000395032.2_5'UTR	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	119						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.Q119H(1)		endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				TTTAGATACAGAACAGTTTTG	0.323																																																	1	Substitution - Missense(1)	kidney(1)											58.0	54.0	55.0					11																	59834429		2201	4295	6496	SO:0001583	missense	932			L35848	CCDS31567.1, CCDS31568.1, CCDS41651.1	11q12-q13.1	2008-03-25				ENSG00000149516			7317	protein-coding gene	gene with protein product		606498		CD20L		7524084	Standard	NM_006138		Approved	HTM4	uc001nom.3	Q96HJ5		ENST00000278865.3:c.357G>T	11.37:g.59834429G>T	ENSP00000278865:p.Gln119His	Somatic		WXS	Illumina HiSeq	Phase_I	A8MTP8|Q8NHW2	Missense_Mutation	SNP	ENST00000278865.3	37	CCDS31567.1	.	.	.	.	.	.	.	.	.	.	G	6.915	0.538380	0.13250	.	.	ENSG00000149516	ENST00000358152;ENST00000278865;ENST00000534744	T;T;T	0.02472	4.28;4.28;4.28	4.21	-6.75	0.01738	.	2.345970	0.02378	N	0.078586	T	0.06690	0.0171	L	0.54323	1.7	0.09310	N	1	P;D	0.54047	0.956;0.964	P;P	0.55785	0.678;0.784	T	0.30297	-0.9983	10	0.20046	T	0.44	-3.4145	8.7622	0.34680	0.2783:0.1494:0.5723:0.0	.	73;119	Q96HJ5-2;Q96HJ5	.;MS4A3_HUMAN	H	73;119;73	ENSP00000350872:Q73H;ENSP00000278865:Q119H;ENSP00000434117:Q73H	ENSP00000278865:Q119H	Q	+	3	2	MS4A3	59591005	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.583000	0.05807	-1.779000	0.01280	-0.511000	0.04467	CAG		0.323	MS4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394417.1			
NDUFA6	4700	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	42482196	42482196	+	Silent	SNP	G	G	A	rs150607291	byFrequency	TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr22:42482196G>A	ENST00000498737.2	-	3	588	c.456C>T	c.(454-456)caC>caT	p.H152H	NDUFA6_ENST00000602404.1_Silent_p.H126H|NDUFA6_ENST00000470753.1_Silent_p.H69H	NM_002490.3	NP_002481.2	P56556	NDUA6_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa	152					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.H152H(1)		kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5						TTCATGGATCGTGGCCAACAT	0.403													G|||	4	0.000798722	0.0008	0.0	5008	,	,		23465	0.0		0.001	False		,,,				2504	0.002																1	Substitution - coding silent(1)	kidney(1)						G		2,4404	4.2+/-10.8	0,2,2201	207.0	181.0	190.0		456	-11.5	0.2	22	dbSNP_134	190	15,8585	11.2+/-40.8	0,15,4285	no	coding-synonymous	NDUFA6	NM_002490.3		0,17,6486	AA,AG,GG		0.1744,0.0454,0.1307		152/155	42482196	17,12989	2203	4300	6503	SO:0001819	synonymous_variant	4700			AF047182	CCDS33656.1	22q13.2	2010-05-07	2002-08-29		ENSG00000184983	ENSG00000184983		"""LYR motif containing"", ""Mitochondrial respiratory chain complex / Complex I"""	7690	protein-coding gene	gene with protein product	"""complex I B14 subunit"""	602138	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6 (14kD, B14)"""			9763676, 9425316	Standard	NM_002490		Approved	B14, LYRM6, CI-B14, NADHB14	uc003bcb.3	P56556	OTTHUMG00000151287	ENST00000498737.2:c.456C>T	22.37:g.42482196G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2RE54|O43675|Q6FGW0|Q6IBT8|Q6IC39	Silent	SNP	ENST00000498737.2	37	CCDS33656.1																																																																																				0.403	NDUFA6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322089.4		NM_002490	
NFE2L2	4780	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	178098956	178098956	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr2:178098956A>T	ENST00000397062.3	-	2	643	c.89T>A	c.(88-90)cTt>cAt	p.L30H	NFE2L2_ENST00000446151.2_Missense_Mutation_p.L14H|NFE2L2_ENST00000464747.1_Missense_Mutation_p.L14H|NFE2L2_ENST00000397063.4_Missense_Mutation_p.L14H|NFE2L2_ENST00000423513.1_Missense_Mutation_p.L14H	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	30					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L30R(2)|p.L30H(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACTTACTCCAAGATCTATATC	0.363			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	3	Substitution - Missense(3)	endometrium(2)|kidney(1)											68.0	61.0	63.0					2																	178098956		1839	4101	5940	SO:0001583	missense	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.89T>A	2.37:g.178098956A>T	ENSP00000380252:p.Leu30His	Somatic		WXS	Illumina HiSeq	Phase_I	B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	A	19.86	3.906080	0.72868	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15;1.15	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.66287	0.2774	M	0.86953	2.85	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	T	0.72959	-0.4133	10	0.87932	D	0	.	16.098	0.81144	1.0:0.0:0.0:0.0	.	14;14;14;30	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	H	14;30;14;14;14;14;14	ENSP00000380253:L14H;ENSP00000380252:L30H;ENSP00000411575:L14H;ENSP00000391590:L14H;ENSP00000400073:L14H;ENSP00000412191:L14H;ENSP00000410015:L14H	ENSP00000380252:L30H	L	-	2	0	NFE2L2	177807202	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.962000	0.93254	2.210000	0.71456	0.460000	0.39030	CTT		0.363	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4		NM_006164	
NONO	4841	broad.mit.edu;hgsc.bcm.edu	37	X	70516749	70516749	+	Nonsense_Mutation	SNP	T	T	G			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chrX:70516749T>G	ENST00000276079.8	+	7	1000	c.795T>G	c.(793-795)taT>taG	p.Y265*	NONO_ENST00000490044.1_3'UTR|NONO_ENST00000535149.1_Nonsense_Mutation_p.Y176*|NONO_ENST00000373856.3_Nonsense_Mutation_p.Y265*|NONO_ENST00000373841.1_Nonsense_Mutation_p.Y265*	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	265	DBHS.				circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Y265*(1)	NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					CCTTTGAGTATGAATATGCCA	0.517			T	TFE3	papillary renal cancer																																			Dom	yes		X	Xq13.1	4841	"""non-POU domain containing, octamer-binding"""		E	1	Substitution - Nonsense(1)	kidney(1)											55.0	47.0	50.0					X																	70516749		2203	4300	6503	SO:0001587	stop_gained	4841			L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"""RNA binding motif (RRM) containing"""	7871	protein-coding gene	gene with protein product	"""Nuclear RNA-binding protein, 54-kD"", ""non-Pou domain-containing octamer (ATGCAAAT) binding protein"", ""protein phosphatase 1, regulatory subunit 114"""	300084	"""non-POU-domain-containing, octamer-binding"""			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.795T>G	X.37:g.70516749T>G	ENSP00000276079:p.Tyr265*	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Nonsense_Mutation	SNP	ENST00000276079.8	37	CCDS14410.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	33|33	5.280353|5.280353	0.95489|0.95489	.|.	.|.	ENSG00000147140|ENSG00000147140	ENST00000418921|ENST00000535149;ENST00000276079;ENST00000373856;ENST00000373841;ENST00000413858	.|.	.|.	.|.	5.23|5.23	4.06|4.06	0.47325|0.47325	.|.	.|0.058004	.|0.64402	.|D	.|0.000001	T|.	0.17704|.	0.0425|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.29882|.	-0.9997|.	3|.	.|0.02654	.|T	.|1	-6.2274|-6.2274	7.0077|7.0077	0.24846|0.24846	0.0:0.2505:0.0:0.7495|0.0:0.2505:0.0:0.7495	.|.	.|.	.|.	.|.	R|X	127|176;265;265;265;173	.|.	.|ENSP00000276079:Y265X	M|Y	+|+	2|3	0|2	NONO|NONO	70433474|70433474	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	0.774000|0.774000	0.26675|0.26675	0.804000|0.804000	0.34136|0.34136	0.430000|0.430000	0.28490|0.28490	ATG|TAT		0.517	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1		NM_007363	
PCDHGA1	56114	broad.mit.edu;hgsc.bcm.edu	37	5	140712520	140712520	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr5:140712520G>T	ENST00000517417.1	+	1	2269	c.2269G>T	c.(2269-2271)Gtc>Ttc	p.V757F	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.V757F	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	757					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V757F(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCCACGAGGTCTCCCTCAC	0.597																																																	2	Substitution - Missense(2)	kidney(2)											84.0	90.0	88.0					5																	140712520		2203	4296	6499	SO:0001583	missense	56114			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2269G>T	5.37:g.140712520G>T	ENSP00000431083:p.Val757Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	.	14.49	2.552118	0.45487	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.57273	0.57;0.41	3.89	2.04	0.26737	.	0.151802	0.30118	N	0.010380	T	0.57607	0.2065	M	0.83118	2.625	0.22858	N	0.998645	B;B	0.27765	0.188;0.046	B;B	0.36989	0.238;0.078	T	0.56655	-0.7943	10	0.59425	D	0.04	.	8.9695	0.35897	0.1784:0.0:0.8216:0.0	.	757;757	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	F	757	ENSP00000431083:V757F;ENSP00000367345:V757F	ENSP00000367345:V757F	V	+	1	0	PCDHGA1	140692704	0.179000	0.23135	0.984000	0.44739	0.918000	0.54935	1.555000	0.36277	0.401000	0.25424	0.585000	0.79938	GTC		0.597	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1		NM_018912	
PDXDC1	23042	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	15126793	15126793	+	Silent	SNP	G	G	T			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr16:15126793G>T	ENST00000396410.4	+	18	1744	c.1647G>T	c.(1645-1647)ctG>ctT	p.L549L	PDXDC1_ENST00000450288.2_Silent_p.L521L|PDXDC1_ENST00000563679.1_Silent_p.L567L|PDXDC1_ENST00000325823.7_Silent_p.L534L|PDXDC1_ENST00000447912.2_Silent_p.L458L|PDXDC1_ENST00000569715.1_Silent_p.L522L|PDXDC1_ENST00000535621.2_Intron	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	549					carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)	p.L549L(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTGGACTCCTGAAGAAGTTAA	0.413																																																	1	Substitution - coding silent(1)	kidney(1)											94.0	100.0	98.0					16																	15126793		2197	4300	6497	SO:0001819	synonymous_variant	23042			AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.1647G>T	16.37:g.15126793G>T		Somatic		WXS	Illumina HiSeq	Phase_I	B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Silent	SNP	ENST00000396410.4	37	CCDS32393.1																																																																																				0.413	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2		NM_015027	
PKHD1L1	93035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	110476839	110476839	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr8:110476839A>T	ENST00000378402.5	+	49	7882	c.7778A>T	c.(7777-7779)gAt>gTt	p.D2593V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2593					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.D2595V(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AACCACCCTGATGGGCCATCC	0.453										HNSCC(38;0.096)																																							1	Substitution - Missense(1)	kidney(1)											85.0	87.0	86.0					8																	110476839		1963	4167	6130	SO:0001583	missense	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.7778A>T	8.37:g.110476839A>T	ENSP00000367655:p.Asp2593Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.576533	0.45902	.	.	ENSG00000205038	ENST00000378402	D	0.81659	-1.52	5.55	5.55	0.83447	Pectin lyase fold/virulence factor (1);	0.119923	0.53938	D	0.000047	T	0.79839	0.4515	L	0.58302	1.8	0.80722	D	1	P	0.40875	0.731	B	0.42188	0.379	T	0.81867	-0.0735	10	0.62326	D	0.03	.	13.6434	0.62265	1.0:0.0:0.0:0.0	.	2593	Q86WI1	PKHL1_HUMAN	V	2593	ENSP00000367655:D2593V	ENSP00000367655:D2593V	D	+	2	0	PKHD1L1	110546015	1.000000	0.71417	0.991000	0.47740	0.083000	0.17756	7.693000	0.84214	2.110000	0.64415	0.533000	0.62120	GAT		0.453	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1		NM_177531	
PLCB1	23236	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	8698474	8698474	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr20:8698474G>T	ENST00000338037.6	+	14	1519	c.1492G>T	c.(1492-1494)Gag>Tag	p.E498*	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378641.3_Nonsense_Mutation_p.E498*|PLCB1_ENST00000378637.2_Nonsense_Mutation_p.E498*	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	498					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.E498*(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CAGCATGTTCGAGCCCTCATC	0.522																																																	2	Substitution - Nonsense(2)	kidney(2)											50.0	43.0	45.0					20																	8698474		2203	4300	6503	SO:0001587	stop_gained	23236			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.1492G>T	20.37:g.8698474G>T	ENSP00000338185:p.Glu498*	Somatic		WXS	Illumina HiSeq	Phase_I	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Nonsense_Mutation	SNP	ENST00000338037.6	37	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	G	45	11.782053	0.99602	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	.	.	.	5.95	5.95	0.96441	.	0.756820	0.13205	N	0.405609	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	.	.	.	X	498;498;498;418;418	.	ENSP00000338185:E498X	E	+	1	0	PLCB1	8646474	1.000000	0.71417	0.993000	0.49108	0.862000	0.49288	9.569000	0.98170	2.824000	0.97209	0.655000	0.94253	GAG		0.522	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			
PLEKHG2	64857	hgsc.bcm.edu;ucsc.edu	37	19	39914662	39914671	+	Frame_Shift_Del	DEL	CCTCCAGGTG	CCTCCAGGTG	-			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	CCTCCAGGTG	CCTCCAGGTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr19:39914662_39914671delCCTCCAGGTG	ENST00000409794.3	+	19	3739_3748	c.2889_2898delCCTCCAGGTG	c.(2887-2898)cacctccaggtgfs	p.HLQV963fs	PLEKHG2_ENST00000458508.2_Frame_Shift_Del_p.HLQV904fs|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000425673.1_Frame_Shift_Del_p.HLQV934fs|CTB-60E11.4_ENST00000601124.1_lincRNA	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	963					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L964L(1)|p.L905L(1)|p.L922L(1)		breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCCCCCTGCACCTCCAGGTGCCGGCTCTTA	0.562																																																	3	Substitution - coding silent(3)	lung(3)																																								SO:0001589	frameshift_variant	64857			AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.2889_2898delCCTCCAGGTG	19.37:g.39914662_39914671delCCTCCAGGTG	ENSP00000386733:p.His963fs	Somatic		WXS	Illumina HiSeq	Phase_I	B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Frame_Shift_Del	DEL	ENST00000409794.3	37	CCDS33022.2																																																																																				0.562	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1		NM_022835	
REXO1	57455	broad.mit.edu;hgsc.bcm.edu	37	19	1827759	1827759	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr19:1827759C>A	ENST00000170168.4	-	2	1123	c.1029G>T	c.(1027-1029)caG>caT	p.Q343H	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	343						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)	p.Q343H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACGTCGCACTGCACGGCCG	0.721																																																	1	Substitution - Missense(1)	kidney(1)											10.0	12.0	12.0					19																	1827759		2167	4258	6425	SO:0001583	missense	57455			AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.1029G>T	19.37:g.1827759C>A	ENSP00000170168:p.Gln343His	Somatic		WXS	Illumina HiSeq	Phase_I	Q9ULT2	Missense_Mutation	SNP	ENST00000170168.4	37	CCDS32866.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.769983	0.49680	.	.	ENSG00000079313	ENST00000170168;ENST00000413153	T	0.13901	2.55	4.12	3.04	0.35103	.	0.383769	0.26338	N	0.024957	T	0.32496	0.0831	M	0.71581	2.175	0.34831	D	0.739655	D;D	0.65815	0.994;0.995	D;P	0.78314	0.991;0.887	T	0.45498	-0.9257	10	0.72032	D	0.01	-37.3193	10.2611	0.43427	0.0:0.8341:0.0:0.1659	.	297;343	F5H016;Q8N1G1	.;REXO1_HUMAN	H	343;297	ENSP00000170168:Q343H	ENSP00000170168:Q343H	Q	-	3	2	REXO1	1778759	0.996000	0.38824	0.988000	0.46212	0.343000	0.28985	0.714000	0.25808	2.130000	0.65690	0.555000	0.69702	CAG		0.721	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1		NM_020695	
PRX	57716	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	40903260	40903260	+	Silent	SNP	C	C	T			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr19:40903260C>T	ENST00000324001.7	-	7	1269	c.999G>A	c.(997-999)gtG>gtA	p.V333V	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	333					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.V333V(1)		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)			GGTCCACCCCCACAGTCGGTG	0.667																																																	1	Substitution - coding silent(1)	kidney(1)											16.0	18.0	17.0					19																	40903260		2135	4212	6347	SO:0001819	synonymous_variant	57716			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.999G>A	19.37:g.40903260C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q9BXL9|Q9HCF2	Silent	SNP	ENST00000324001.7	37	CCDS33028.1																																																																																				0.667	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1		NM_020956	
RSF1	51773	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	77412660	77412660	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr11:77412660T>G	ENST00000308488.6	-	6	1916	c.1614A>C	c.(1612-1614)gaA>gaC	p.E538D	RSF1_ENST00000480887.1_Missense_Mutation_p.E286D|RSF1_ENST00000360355.2_Missense_Mutation_p.E507D			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	538					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)	p.E538D(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CAAGAGAAGTTTCCATTTCTG	0.413																																																	1	Substitution - Missense(1)	kidney(1)											166.0	170.0	168.0					11																	77412660		2200	4292	6492	SO:0001583	missense	51773			AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.1614A>C	11.37:g.77412660T>G	ENSP00000311513:p.Glu538Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	ENST00000308488.6	37	CCDS8253.1	.	.	.	.	.	.	.	.	.	.	T	8.563	0.878187	0.17395	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355;ENST00000526324;ENST00000528095	D;D;D;D;T	0.87412	-2.15;-2.17;-2.15;-2.25;1.31	5.23	2.8	0.32819	.	0.214314	0.33180	N	0.005184	T	0.75148	0.3810	N	0.14661	0.345	0.36178	D	0.849243	B	0.06786	0.001	B	0.08055	0.003	T	0.68074	-0.5505	10	0.30854	T	0.27	-10.0621	11.6163	0.51092	0.0:0.0:0.2936:0.7064	.	538	Q96T23	RSF1_HUMAN	D	538;286;507;339;537	ENSP00000311513:E538D;ENSP00000434509:E286D;ENSP00000353511:E507D;ENSP00000432022:E339D;ENSP00000436408:E537D	ENSP00000311513:E538D	E	-	3	2	RSF1	77090308	0.155000	0.22806	0.917000	0.36280	0.449000	0.32228	0.325000	0.19628	0.402000	0.25451	0.533000	0.62120	GAA		0.413	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2		NM_016578	
SBF1	6305	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	50893063	50893063	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr22:50893063G>A	ENST00000390679.3	-	35	5027	c.4843C>T	c.(4843-4845)Cct>Tct	p.P1615S	SBF1_ENST00000476293.1_5'Flank|SBF1_ENST00000380817.3_Missense_Mutation_p.P1641S|SBF1_ENST00000348911.6_Missense_Mutation_p.P1616S			O95248	MTMR5_HUMAN	SET binding factor 1	1615					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.P1641S(1)|p.P1615S(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		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;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GGGGGTTCAGGGGGCCCCTGG	0.667																																																	2	Substitution - Missense(2)	kidney(2)											43.0	50.0	48.0					22																	50893063		1883	4084	5967	SO:0001583	missense	6305			U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.4843C>T	22.37:g.50893063G>A	ENSP00000375097:p.Pro1615Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.355|2.355	-0.348049|-0.348049	0.05208|0.05208	.|.	.|.	ENSG00000100241|ENSG00000100241	ENST00000418590|ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	D|D;D;D	0.81659|0.85339	-1.52|-1.97;-1.97;-1.97	4.54|4.54	4.54|4.54	0.55810|0.55810	.|.	0.567885|0.567885	0.16522|0.16522	N|N	0.210741|0.210741	T|T	0.78717|0.78717	0.4327|0.4327	L|L	0.34521|0.34521	1.04|1.04	0.39911|0.39911	D|D	0.974036|0.974036	.|B;B;B	.|0.24043	.|0.0;0.096;0.0	.|B;B;B	.|0.21151	.|0.002;0.033;0.001	T|T	0.73936|0.73936	-0.3825|-0.3825	8|10	0.23891|0.18710	T|T	0.37|0.47	.|.	17.2455|17.2455	0.87027|0.87027	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1615;1641;162	.|O95248;O95248-4;A6PVG7	.|MTMR5_HUMAN;.;.	L|S	162|1641;1616;1651;1615	ENSP00000401538:P162L|ENSP00000370196:P1641S;ENSP00000252027:P1616S;ENSP00000375097:P1615S	ENSP00000401538:P162L|ENSP00000336522:P1651S	P|P	-|-	2|1	0|0	SBF1|SBF1	49239929|49239929	0.885000|0.885000	0.30320|0.30320	0.688000|0.688000	0.30117|0.30117	0.411000|0.411000	0.31082|0.31082	3.549000|3.549000	0.53681|0.53681	2.236000|2.236000	0.73375|0.73375	0.462000|0.462000	0.41574|0.41574	CCC|CCT		0.667	SBF1-201	KNOWN	basic	protein_coding	protein_coding				
SCG2	7857	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	224463615	224463615	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr2:224463615G>A	ENST00000305409.2	-	2	618	c.386C>T	c.(385-387)cCa>cTa	p.P129L		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.P129L(1)		NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		ATTTTCTTTTGGTGCAGACTG	0.433																																																	1	Substitution - Missense(1)	kidney(1)											165.0	164.0	165.0					2																	224463615		2203	4300	6503	SO:0001583	missense	7857			M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"""secretoneurin"", ""chromogranin C"""	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.386C>T	2.37:g.224463615G>A	ENSP00000304133:p.Pro129Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000305409.2	37	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	G	7.668	0.686303	0.14973	.	.	ENSG00000171951	ENST00000305409;ENST00000421386	T;T	0.01854	4.6;4.6	5.5	1.62	0.23740	.	0.512246	0.20377	N	0.093538	T	0.01558	0.0050	N	0.10972	0.075	0.09310	N	0.999995	B	0.06786	0.001	B	0.09377	0.004	T	0.47446	-0.9117	10	0.32370	T	0.25	.	11.335	0.49498	0.2611:0.0:0.7389:0.0	.	129	P13521	SCG2_HUMAN	L	129	ENSP00000304133:P129L;ENSP00000394702:P129L	ENSP00000304133:P129L	P	-	2	0	SCG2	224171859	0.001000	0.12720	0.011000	0.14972	0.899000	0.52679	0.449000	0.21744	0.365000	0.24400	0.585000	0.79938	CCA		0.433	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2		NM_003469	
SEMA6A	57556	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	115803361	115803361	+	Silent	SNP	C	C	G			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr5:115803361C>G	ENST00000343348.6	-	18	2599	c.1812G>C	c.(1810-1812)ctG>ctC	p.L604L	SEMA6A_ENST00000282394.6_Intron|CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000257414.8_Silent_p.L621L|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000510263.1_Silent_p.L604L|CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000513137.1_Silent_p.L31L	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	604					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)	p.L604L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GCTTCCAGTCCAGCATTCCTC	0.512																																																	1	Substitution - coding silent(1)	kidney(1)											111.0	108.0	109.0					5																	115803361		2011	4174	6185	SO:0001819	synonymous_variant	57556			AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.1812G>C	5.37:g.115803361C>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q9P2H9	Silent	SNP	ENST00000343348.6	37	CCDS47256.1																																																																																				0.512	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1		NM_020796	
SETD2	29072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	47142967	47142967	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr3:47142967A>G	ENST00000409792.3	-	8	5038	c.4996T>C	c.(4996-4998)Tat>Cat	p.Y1666H		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1666	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.Y1163H(1)|p.Y1666H(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TGGAACTGATAGTCAAACGTT	0.378			"""N, F, S, Mis"""		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Substitution - Missense(2)	kidney(2)											164.0	167.0	166.0					3																	47142967		2203	4300	6503	SO:0001583	missense	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4996T>C	3.37:g.47142967A>G	ENSP00000386759:p.Tyr1666His	Somatic		WXS	Illumina HiSeq	Phase_I	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	A	25.4	4.633677	0.87660	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	D	0.98958	-5.27	5.94	5.94	0.96194	SET domain (3);	0.000000	0.48767	D	0.000170	D	0.99632	0.9865	H	0.99783	4.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97217	0.9875	10	0.87932	D	0	.	16.4075	0.83691	1.0:0.0:0.0:0.0	.	1666;1666	F2Z317;Q9BYW2	.;SETD2_HUMAN	H	1666	ENSP00000386759:Y1666H	ENSP00000386759:Y1666H	Y	-	1	0	SETD2	47117971	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.238000	0.95380	2.275000	0.75901	0.528000	0.53228	TAT		0.378	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2		NM_014159	
SENP7	57337	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	101060582	101060582	+	Silent	SNP	C	C	A			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr3:101060582C>A	ENST00000394095.2	-	15	2201	c.2148G>T	c.(2146-2148)ctG>ctT	p.L716L	SENP7_ENST00000394091.1_Silent_p.L552L|SENP7_ENST00000358203.3_Silent_p.L552L|SENP7_ENST00000348610.3_Silent_p.L683L|SENP7_ENST00000394094.2_Silent_p.L651L|SENP7_ENST00000314261.7_Silent_p.L650L	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	716						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.L650L(1)|p.L716L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTTGCTTCTGCAGGAAGGTGT	0.438																																																	2	Substitution - coding silent(2)	kidney(2)											109.0	92.0	98.0					3																	101060582		2203	4300	6503	SO:0001819	synonymous_variant	57337				CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.2148G>T	3.37:g.101060582C>A		Somatic		WXS	Illumina HiSeq	Phase_I	A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Silent	SNP	ENST00000394095.2	37	CCDS2941.2																																																																																				0.438	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2		NM_020654	
SLC35B3	51000	hgsc.bcm.edu;ucsc.edu	37	6	8417152	8417152	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr6:8417152A>T	ENST00000379660.4	-	9	1399	c.950T>A	c.(949-951)tTg>tAg	p.L317*		NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	Q9H1N7	S35B3_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3	317					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.L317*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					AATTTTAATCAAAGCCAGAAC	0.348																																					Melanoma(83;700 1353 9357 11478 30548)												1	Substitution - Nonsense(1)	kidney(1)											72.0	80.0	77.0					6																	8417152		2203	4299	6502	SO:0001587	stop_gained	51000			AF132953	CCDS4508.1	6p24.3	2013-07-17	2013-07-17	2003-09-10	ENSG00000124786	ENSG00000124786		"""Solute carriers"""	21601	protein-coding gene	gene with protein product	"""3' phosphoadenosine 5' phosphosulfate transporter 2"""	610845	"""chromosome 6 open reading frame 196"", ""solute carrier family 35, member B3"""	C6orf196		10810093	Standard	XM_005249156		Approved	CGI-19, dJ453H5.1, PAPST2	uc010joe.3	Q9H1N7	OTTHUMG00000014224	ENST00000379660.4:c.950T>A	6.37:g.8417152A>T	ENSP00000368981:p.Leu317*	Somatic		WXS	Illumina HiSeq	Phase_I	A6NKX9|Q1XH11|Q6MZJ0|Q7Z662|Q9Y308	Nonsense_Mutation	SNP	ENST00000379660.4	37	CCDS4508.1	.	.	.	.	.	.	.	.	.	.	A	41	9.053889	0.99050	.	.	ENSG00000124786	ENST00000379660	.	.	.	5.36	5.36	0.76844	.	0.157935	0.40818	N	0.001014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.0454	15.6434	0.77025	1.0:0.0:0.0:0.0	.	.	.	.	X	317	.	.	L	-	2	0	SLC35B3	8362151	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.157000	0.94714	2.153000	0.67306	0.528000	0.53228	TTG		0.348	SLC35B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039802.1		NM_015948	
SLC9A5	6553	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	67290936	67290936	+	Silent	SNP	C	C	T			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr16:67290936C>T	ENST00000299798.11	+	7	1320	c.1255C>T	c.(1255-1257)Ctg>Ttg	p.L419L		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	419					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.L419L(1)		breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CGTCATCCTACTGGATAGGAC	0.557																																																	1	Substitution - coding silent(1)	kidney(1)											89.0	92.0	91.0					16																	67290936		2005	4193	6198	SO:0001819	synonymous_variant	6553				CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.1255C>T	16.37:g.67290936C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A5PKY7|Q9Y626	Silent	SNP	ENST00000299798.11	37	CCDS42178.1																																																																																				0.557	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			
STT3B	201595	hgsc.bcm.edu	37	3	31659455	31659456	+	Frame_Shift_Ins	INS	-	-	G	rs368102823		TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr3:31659455_31659456insG	ENST00000295770.2	+	8	1356_1357	c.1147_1148insG	c.(1147-1149)aggfs	p.R383fs	STT3B_ENST00000453168.1_3'UTR	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	383					co-translational protein modification (GO:0043686)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						ATGGAGTGGCAGGTTTTATTCA	0.307																																																	0																																										SO:0001589	frameshift_variant	201595			AK027789	CCDS2650.1	3p24.1	2013-03-06	2013-03-06		ENSG00000163527	ENSG00000163527	2.4.99.18		30611	protein-coding gene	gene with protein product	"""source of immunodominant MHC associated peptides"", ""dolichyl-diphosphooligosaccharide protein glycotransferase"""	608605	"""STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)"""			12887896, 12439619	Standard	XM_006713017		Approved	SIMP, FLJ90106, STT3-B	uc011axe.2	Q8TCJ2	OTTHUMG00000130673	ENST00000295770.2:c.1149dupG	3.37:g.31659457_31659457dupG	ENSP00000295770:p.Arg383fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q96JZ4|Q96KY7	Frame_Shift_Ins	INS	ENST00000295770.2	37	CCDS2650.1																																																																																				0.307	STT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253166.2		NM_178862	
TEP1	7011	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	20847178	20847178	+	Silent	SNP	G	G	A	rs138032035		TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr14:20847178G>A	ENST00000262715.5	-	36	5254	c.5214C>T	c.(5212-5214)gaC>gaT	p.D1738D	TEP1_ENST00000545983.1_Silent_p.D76D|TEP1_ENST00000556935.1_Silent_p.D1630D	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1738					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.D1738D(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCAGGAGCCCGTCGAAGGCAG	0.547																																																	1	Substitution - coding silent(1)	kidney(1)						G		1,4405	2.1+/-5.4	0,1,2202	86.0	86.0	86.0		5214	-7.8	0.7	14	dbSNP_134	86	0,8600		0,0,4300	no	coding-synonymous	TEP1	NM_007110.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1738/2628	20847178	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.5214C>T	14.37:g.20847178G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A0AUV9	Silent	SNP	ENST00000262715.5	37	CCDS9548.1																																																																																				0.547	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2		NM_007110	
TINAGL1	64129	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	32042883	32042883	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr1:32042883G>A	ENST00000271064.7	+	2	210	c.134G>A	c.(133-135)gGc>gAc	p.G45D	TINAGL1_ENST00000441210.2_Missense_Mutation_p.G45D|TINAGL1_ENST00000481165.1_3'UTR|RP11-73M7.1_ENST00000435872.1_RNA|TINAGL1_ENST00000537531.1_Missense_Mutation_p.G45D|TINAGL1_ENST00000457433.2_Missense_Mutation_p.G45D	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	45					endosomal transport (GO:0016197)|immune response (GO:0006955)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type peptidase activity (GO:0008234)|extracellular matrix structural constituent (GO:0005201)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.G45D(1)		breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		GACGCGGGAGGCCGGTACTGC	0.706																																																	1	Substitution - Missense(1)	kidney(1)											39.0	34.0	35.0					1																	32042883		2201	4298	6499	SO:0001583	missense	64129			AB050716	CCDS343.1, CCDS55586.1, CCDS72745.1	1p34.3	2014-04-22	2005-08-18	2005-08-18	ENSG00000142910	ENSG00000142910			19168	protein-coding gene	gene with protein product			"""lipocalin 7"", ""TINAG-like 1"""	LCN7		11170462	Standard	NM_022164		Approved	P3ECSL, LIECG3, ARG1, TINAGRP	uc001bta.3	Q9GZM7	OTTHUMG00000003884	ENST00000271064.7:c.134G>A	1.37:g.32042883G>A	ENSP00000271064:p.Gly45Asp	Somatic		WXS	Illumina HiSeq	Phase_I	A8K9Q5|B4DPK6|D3DPN8|Q8TEJ9|Q8WZ23|Q96GZ4|Q96JW3	Missense_Mutation	SNP	ENST00000271064.7	37	CCDS343.1	.	.	.	.	.	.	.	.	.	.	g	35	5.506696	0.96386	.	.	ENSG00000142910	ENST00000457433;ENST00000441210;ENST00000271064;ENST00000537531;ENST00000403321	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.71178	0.3309	M	0.79693	2.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.75929	-0.3144	10	0.87932	D	0	.	17.8316	0.88684	0.0:0.0:1.0:0.0	.	45;45;45	B4DPK6;E7EUP2;Q9GZM7	.;.;TINAL_HUMAN	D	45	ENSP00000395137:G45D;ENSP00000411798:G45D;ENSP00000271064:G45D;ENSP00000445392:G45D	ENSP00000271064:G45D	G	+	2	0	TINAGL1	31815470	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.146000	0.77373	2.618000	0.88619	0.655000	0.94253	GGC		0.706	TINAGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011072.1		NM_022164	
TOM1L1	10040	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	53014035	53014035	+	Silent	SNP	T	T	C			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr17:53014035T>C	ENST00000575882.1	+	9	1233	c.880T>C	c.(880-882)Ttg>Ctg	p.L294L	TOM1L1_ENST00000540336.1_Silent_p.L182L|TOM1L1_ENST00000445275.2_Silent_p.L294L|TOM1L1_ENST00000575333.1_Silent_p.L294L|TOM1L1_ENST00000348161.4_Silent_p.L217L|TOM1L1_ENST00000572158.1_Silent_p.L287L|TOM1L1_ENST00000570371.1_Silent_p.L294L|TOM1L1_ENST00000536554.1_Silent_p.L217L	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	294					activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)	p.L294L(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						ACAAAGGATTTTGGAGCAAAA	0.274																																																	1	Substitution - coding silent(1)	kidney(1)											59.0	60.0	60.0					17																	53014035		2203	4295	6498	SO:0001819	synonymous_variant	10040			AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"""target of myb1 (chicken) homolog-like 1"""			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.880T>C	17.37:g.53014035T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q53G06|Q8N749	Silent	SNP	ENST00000575882.1	37	CCDS11582.1																																																																																				0.274	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439029.2		NM_005486	
TP63	8626	broad.mit.edu;hgsc.bcm.edu	37	3	189586483	189586483	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr3:189586483G>C	ENST00000264731.3	+	8	1196	c.1107G>C	c.(1105-1107)aaG>aaC	p.K369N	TP63_ENST00000320472.5_Missense_Mutation_p.K369N|TP63_ENST00000354600.5_Missense_Mutation_p.K275N|TP63_ENST00000449992.1_Missense_Mutation_p.K190N|TP63_ENST00000392460.3_Missense_Mutation_p.K369N|TP63_ENST00000382063.4_Missense_Mutation_p.K284N|TP63_ENST00000456148.1_Missense_Mutation_p.K275N|TP63_ENST00000418709.2_Missense_Mutation_p.K369N|TP63_ENST00000392463.2_Missense_Mutation_p.K275N|TP63_ENST00000437221.1_Missense_Mutation_p.K275N|TP63_ENST00000392461.3_Missense_Mutation_p.K275N|TP63_ENST00000440651.2_Missense_Mutation_p.K369N	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	369	Interaction with HIPK2.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)	p.K369N(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACAGTACAAAGAACGGTGATG	0.517										HNSCC(45;0.13)																																							1	Substitution - Missense(1)	kidney(1)											133.0	125.0	128.0					3																	189586483		2203	4300	6503	SO:0001583	missense	8626			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1107G>C	3.37:g.189586483G>C	ENSP00000264731:p.Lys369Asn	Somatic		WXS	Illumina HiSeq	Phase_I	O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249808	0.80024	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	D;D;D;D;D;D;D;D;D;D;D;D	0.99737	-6.3;-6.56;-6.56;-6.56;-6.42;-6.58;-6.27;-6.5;-6.52;-6.52;-6.59;-6.37	6.03	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.99515	0.9827	L	0.57536	1.79	0.80722	D	1	D;D;D;P;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.588;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;B;D;D;D;D;D;D	0.97110	0.995;1.0;1.0;0.318;1.0;1.0;0.999;0.995;0.999;1.0	D	0.98567	1.0644	9	.	.	.	-14.4714	14.6053	0.68475	0.0696:0.0:0.9304:0.0	.	190;369;369;275;275;275;275;369;369;369	Q9H3D4-10;Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;.;P63_HUMAN;.	N	369;369;369;369;369;284;275;275;275;275;190;275	ENSP00000264731:K369N;ENSP00000407144:K369N;ENSP00000317510:K369N;ENSP00000376253:K369N;ENSP00000394337:K369N;ENSP00000371495:K284N;ENSP00000346614:K275N;ENSP00000392488:K275N;ENSP00000376256:K275N;ENSP00000376254:K275N;ENSP00000387839:K190N;ENSP00000389485:K275N	.	K	+	3	2	TP63	191069177	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.256000	0.72473	1.552000	0.49463	0.655000	0.94253	AAG		0.517	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1		NM_003722	
TPSD1	23430	hgsc.bcm.edu	37	16	1307050	1307050	+	Silent	SNP	C	C	T			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr16:1307050C>T	ENST00000211076.3	+	3	655	c.507C>T	c.(505-507)gaC>gaT	p.D169D	TPSD1_ENST00000397534.2_Silent_p.D162D|RP11-616M22.5_ENST00000566997.1_RNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	169	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				GCTGGGGCGACGTGGACAATA	0.677																																																	0													24.0	24.0	24.0					16																	1307050		2198	4297	6495	SO:0001819	synonymous_variant	23430			AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"""mMCP-7-like II"", ""mMCP-7-like I"", ""MMCP-7-LIKE-2"""	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.507C>T	16.37:g.1307050C>T		Somatic		WXS	Illumina HiSeq	Phase_I	O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Silent	SNP	ENST00000211076.3	37	CCDS10432.1																																																																																				0.677	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2			
TSHZ3	57616	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	31769985	31769986	+	Missense_Mutation	DNP	AT	AT	TA			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	A|T	A|T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr19:31769985_31769986AT>TA	ENST00000240587.4	-	2	1040_1041	c.713_714AT>TA	c.(712-714)cAT>cTA	p.H238L		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	238					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H238L(2)|p.H55L(2)|p.H238Q(1)|p.H55Q(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CGTCGCGGTAATGCCCCGTCTC	0.594																																																	6	Substitution - Missense(6)	kidney(6)																																								SO:0001583	missense	57616			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.713_714delinsTA	19.37:g.31769985_31769986delinsTA	ENSP00000240587:p.His238Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	CCDS12421.2																																																																																				0.594	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2		NM_020856	
UEVLD	55293	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	18600293	18600293	+	Missense_Mutation	SNP	G	G	T	rs571963007		TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr11:18600293G>T	ENST00000541984.1	-	2	167	c.105C>A	c.(103-105)ttC>ttA	p.F35L	UEVLD_ENST00000535484.1_5'UTR|UEVLD_ENST00000320750.6_Missense_Mutation_p.F35L|UEVLD_ENST00000396197.3_Missense_Mutation_p.F35L|UEVLD_ENST00000379387.4_Missense_Mutation_p.F35L|UEVLD_ENST00000300038.7_Missense_Mutation_p.F35L|UEVLD_ENST00000543987.1_Missense_Mutation_p.F35L|UEVLD_ENST00000540666.1_Intron	NM_001261386.1	NP_001248315.1			UEV and lactate/malate dehyrogenase domains									p.F35L(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TGGAATATTTGAAATGTGGGA	0.333																																																	2	Substitution - Missense(2)	kidney(2)											114.0	109.0	111.0					11																	18600293		2199	4293	6492	SO:0001583	missense	55293			AF503350	CCDS7843.1, CCDS41624.1, CCDS58122.1, CCDS58123.1, CCDS58124.1, CCDS58125.1, CCDS73266.1	11p15.1	2006-07-14			ENSG00000151116	ENSG00000151116			30866	protein-coding gene	gene with protein product		610985				12427560	Standard	NM_001040697		Approved	Attp, UEV3	uc001mot.4	Q8IX04	OTTHUMG00000167729	ENST00000541984.1:c.105C>A	11.37:g.18600293G>T	ENSP00000437538:p.Phe35Leu	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000541984.1	37	CCDS58125.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.526848	0.44969	.	.	ENSG00000151116	ENST00000543987;ENST00000396197;ENST00000320750;ENST00000379387;ENST00000541984;ENST00000300038	T;T;D;T;T	0.81579	-1.12;-0.27;-1.51;-0.65;-0.4	5.83	1.72	0.24424	Ubiquitin E2 variant, N-terminal (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.179830	0.64402	D	0.000012	T	0.58538	0.2129	N	0.05259	-0.085	0.41915	D	0.990485	B;B;P;B;B	0.46512	0.021;0.025;0.879;0.012;0.015	B;B;P;B;B	0.45639	0.012;0.011;0.488;0.004;0.011	T	0.60692	-0.7213	10	0.02654	T	1	-15.395	8.8215	0.35030	0.3057:0.0:0.6943:0.0	.	35;35;35;35;35	Q8IX04-5;B4DL43;Q8IX04-3;Q8IX04-2;Q8IX04	.;.;.;.;UEVLD_HUMAN	L	35	ENSP00000442974:F35L;ENSP00000379500:F35L;ENSP00000323353:F35L;ENSP00000368697:F35L;ENSP00000437538:F35L	ENSP00000300038:F35L	F	-	3	2	UEVLD	18556869	1.000000	0.71417	0.998000	0.56505	0.844000	0.47949	1.265000	0.33027	0.063000	0.16370	-0.367000	0.07326	TTC		0.333	UEVLD-015	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000395928.1		NM_018314	
ZFPM2	23414	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	106813670	106813670	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr8:106813670C>A	ENST00000407775.2	+	8	1610	c.1360C>A	c.(1360-1362)Cca>Aca	p.P454T	ZFPM2_ENST00000520492.1_Missense_Mutation_p.P322T|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P185T|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P322T|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	454					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P454T(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GAACCAGAGACCAGAGATACA	0.458																																																	1	Substitution - Missense(1)	kidney(1)											64.0	70.0	68.0					8																	106813670		1885	4111	5996	SO:0001583	missense	23414			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1360C>A	8.37:g.106813670C>A	ENSP00000384179:p.Pro454Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.928067	0.34002	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.18960	2.18;2.66;2.66;3.87	5.97	5.97	0.96955	.	0.163674	0.53938	D	0.000044	T	0.21387	0.0515	L	0.36672	1.1	0.54753	D	0.999987	B	0.28128	0.201	B	0.24541	0.054	T	0.01621	-1.1310	10	0.39692	T	0.17	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	454	Q8WW38	FOG2_HUMAN	T	454;322;322;185	ENSP00000384179:P454T;ENSP00000430757:P322T;ENSP00000428720:P322T;ENSP00000367733:P185T	ENSP00000367733:P185T	P	+	1	0	ZFPM2	106882846	1.000000	0.71417	0.996000	0.52242	0.717000	0.41224	6.146000	0.71777	2.836000	0.97738	0.655000	0.94253	CCA		0.458	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			
ZNF207	7756	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	30692370	30692370	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr17:30692370G>A	ENST00000321233.6	+	7	798	c.644G>A	c.(643-645)cGt>cAt	p.R215H	ZNF207_ENST00000341711.6_Missense_Mutation_p.R132H|ZNF207_ENST00000342555.6_Missense_Mutation_p.R234H|ZNF207_ENST00000577908.1_Missense_Mutation_p.R231H|ZNF207_ENST00000394673.2_Missense_Mutation_p.R231H|ZNF207_ENST00000394670.4_Missense_Mutation_p.R231H	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	215					attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R215H(1)		breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			CCTGTTCCACGTCCTGGAATT	0.463																																																	1	Substitution - Missense(1)	kidney(1)											85.0	82.0	83.0					17																	30692370		2203	4300	6503	SO:0001583	missense	7756			AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"""Zinc fingers, C2H2-type"""	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.644G>A	17.37:g.30692370G>A	ENSP00000322777:p.Arg215His	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	Missense_Mutation	SNP	ENST00000321233.6	37	CCDS11271.1	.	.	.	.	.	.	.	.	.	.	G	33	5.288249	0.95517	.	.	ENSG00000010244	ENST00000394670;ENST00000394673;ENST00000394679;ENST00000321233;ENST00000341711;ENST00000342555	T;T	0.48201	0.88;0.82	5.87	5.87	0.94306	.	0.097054	0.64402	D	0.000001	T	0.42607	0.1210	L	0.29908	0.895	0.58432	D	0.999999	D;P;P;P;P	0.56287	0.975;0.914;0.914;0.914;0.914	P;P;P;P;P	0.45660	0.489;0.489;0.489;0.489;0.489	T	0.12372	-1.0550	10	0.13470	T	0.59	.	20.2119	0.98289	0.0:0.0:1.0:0.0	.	215;234;231;231;215	A8MTG3;Q59G94;E1P660;O43670-2;O43670	.;.;.;.;ZN207_HUMAN	H	231;215;234;231;132;215	ENSP00000378165:R231H;ENSP00000344913:R132H	ENSP00000322777:R231H	R	+	2	0	ZNF207	27716483	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.788000	0.99064	2.784000	0.95788	0.585000	0.79938	CGT		0.463	ZNF207-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256251.2			
ZRANB1	54764	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	126670374	126670374	+	Silent	SNP	A	A	G			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr10:126670374A>G	ENST00000359653.4	+	6	1895	c.1524A>G	c.(1522-1524)gcA>gcG	p.A508A	ZRANB1_ENST00000471421.1_3'UTR	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	508	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.A508A(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		AAGACTGGGCATTTATACTCT	0.398																																																	1	Substitution - coding silent(1)	kidney(1)											132.0	134.0	133.0					10																	126670374		2203	4300	6503	SO:0001819	synonymous_variant	54764			AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"""Zinc fingers, RAN-binding domain containing"", ""OTU domain containing"""	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.1524A>G	10.37:g.126670374A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Silent	SNP	ENST00000359653.4	37	CCDS7642.1																																																																																				0.398	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050898.1		NM_017580	
HMGN2P46	283651	broad.mit.edu	37	15	45848224	45848224	+	lincRNA	SNP	G	G	T			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr15:45848224G>T	ENST00000557965.1	+	0	0				HMGN2P46_ENST00000409454.1_RNA																							TGCAGATTTTGTTTAGCTTTT	0.318																																																	0																																												0																															15.37:g.45848224G>T		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000557965.1	37																																																																																					0.318	RP11-96O20.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000416553.1			
EHBP1L1	254102	broad.mit.edu	37	11	65346872	65346872	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr11:65346872C>T	ENST00000309295.4	+	3	488	c.223C>T	c.(223-225)Cct>Tct	p.P75S		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	75						membrane (GO:0016020)		p.P75S(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GTGGATGGTACCTGAGAATGT	0.557																																																	1	Substitution - Missense(1)	kidney(1)											37.0	40.0	39.0					11																	65346872		2037	4179	6216	SO:0001583	missense	254102			AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.223C>T	11.37:g.65346872C>T	ENSP00000312671:p.Pro75Ser	Somatic		WXS	Illumina GAIIx	Phase_I	Q8TB89|Q9H7M7	Missense_Mutation	SNP	ENST00000309295.4	37	CCDS44649.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.968257	0.92855	.	.	ENSG00000173442	ENST00000309295;ENST00000533237	T;D	0.85484	-0.82;-1.99	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000003	D	0.91862	0.7424	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92695	0.6170	10	0.87932	D	0	.	14.1742	0.65529	0.0:1.0:0.0:0.0	.	75	Q8N3D4	EH1L1_HUMAN	S	75	ENSP00000312671:P75S;ENSP00000431996:P75S	ENSP00000312671:P75S	P	+	1	0	EHBP1L1	65103448	1.000000	0.71417	0.978000	0.43139	0.997000	0.91878	6.717000	0.74707	2.435000	0.82474	0.491000	0.48974	CCT		0.557	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1		XM_170658	
KIF26B	55083	broad.mit.edu	37	1	245848753	245848753	+	Missense_Mutation	SNP	G	G	A	rs376166521		TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr1:245848753G>A	ENST00000407071.2	+	12	2908	c.2468G>A	c.(2467-2469)cGc>cAc	p.R823H	KIF26B_ENST00000366518.4_Missense_Mutation_p.R442H	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	823					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.R823H(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GAAGAAGGCCGCATGCGCAGG	0.647																																																	2	Substitution - Missense(2)	kidney(2)						G	HIS/ARG	0,4364		0,0,2182	50.0	58.0	55.0		2468	5.8	0.5	1		55	1,8537		0,1,4268	no	missense	KIF26B	NM_018012.3	29	0,1,6450	AA,AG,GG		0.0117,0.0,0.0078	possibly-damaging	823/2109	245848753	1,12901	2182	4269	6451	SO:0001583	missense	55083			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.2468G>A	1.37:g.245848753G>A	ENSP00000385545:p.Arg823His	Somatic		WXS	Illumina GAIIx	Phase_I	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743989	0.69418	0.0	1.17E-4	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.79247	-1.25;-1.22	5.84	5.84	0.93424	.	.	.	.	.	T	0.77103	0.4081	M	0.62266	1.93	0.46437	D	0.999048	P;P	0.42692	0.787;0.627	B;B	0.38106	0.198;0.265	T	0.77440	-0.2587	9	0.41790	T	0.15	.	20.1278	0.97990	0.0:0.0:1.0:0.0	.	442;823	B7WPD9;Q2KJY2	.;KI26B_HUMAN	H	823;442;439	ENSP00000385545:R823H;ENSP00000355475:R442H	ENSP00000355475:R442H	R	+	2	0	KIF26B	243915376	1.000000	0.71417	0.453000	0.27007	0.698000	0.40448	9.869000	0.99810	2.768000	0.95171	0.561000	0.74099	CGC		0.647	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1		XM_371354	
MUCL1	118430	broad.mit.edu	37	12	55250594	55250594	+	Silent	SNP	T	T	A			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr12:55250594T>A	ENST00000308796.6	+	3	187	c.141T>A	c.(139-141)acT>acA	p.T47T	MUCL1_ENST00000547990.1_3'UTR|MUCL1_ENST00000546809.1_Silent_p.T42T	NM_058173.2	NP_477521.1	Q96DR8	MUCL1_HUMAN	mucin-like 1	47	3 X 8 AA tandem repeat of T-T-A-A-[APS]- T-T-A.|Thr-rich.		Missing. {ECO:0000269|PubMed:15880534}.		cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|membrane (GO:0016020)		p.T47T(1)		breast(1)|kidney(1)|lung(1)	3						ctgaaaccactgctgctgcaa	0.502																																																	1	Substitution - coding silent(1)	kidney(1)											129.0	101.0	111.0					12																	55250594		2203	4300	6503	SO:0001819	synonymous_variant	118430			AF414087	CCDS8885.1	12q13.2	2007-07-02							30588	protein-coding gene	gene with protein product	"""small breast epithelial mucin"""	610857				12019145	Standard	NM_058173		Approved	SBEM	uc001sgk.3	Q96DR8		ENST00000308796.6:c.141T>A	12.37:g.55250594T>A		Somatic		WXS	Illumina GAIIx	Phase_I	Q0VG95|Q32ZB5	Silent	SNP	ENST00000308796.6	37	CCDS8885.1																																																																																				0.502	MUCL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406062.1		NM_058173	
RWDD4P2	647009	broad.mit.edu	37	7	39894421	39894421	+	IGR	SNP	A	A	T			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr7:39894421A>T								LINC00265 (61730 upstream) : RN7SL496P (33550 downstream)																							CTTGGCTAATATACTCTGCTT	0.388																																																	0																																										SO:0001628	intergenic_variant	0																															7.37:g.39894421A>T		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP		37																																																																																				0	0.388									
SMO	6608	broad.mit.edu	37	7	128852025	128852025	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr7:128852025T>G	ENST00000249373.3	+	12	2377	c.2097T>G	c.(2095-2097)agT>agG	p.S699R	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	699					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.S699R(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	CTGCCCCCAGTACCATTCCTC	0.677			Mis		skin basal cell																																			Dom	yes		7	7q31-q32	6608	smoothened homolog (Drosophila)		E	1	Substitution - Missense(1)	kidney(1)											10.0	10.0	10.0					7																	128852025		2157	4209	6366	SO:0001583	missense	6608			U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"""GPCR / Class F : Frizzled receptors"""	11119	protein-coding gene	gene with protein product	"""frizzled family member 11"""	601500	"""smoothened (Drosophila) homolog"", ""smoothened homolog (Drosophila)"", ""smoothened, seven transmembrane spanning receptor"", ""smoothened, frizzled family receptor"""	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.2097T>G	7.37:g.128852025T>G	ENSP00000249373:p.Ser699Arg	Somatic		WXS	Illumina GAIIx	Phase_I	A4D1K5	Missense_Mutation	SNP	ENST00000249373.3	37	CCDS5811.1	.	.	.	.	.	.	.	.	.	.	T	10.58	1.390020	0.25118	.	.	ENSG00000128602	ENST00000249373	D	0.81659	-1.52	5.41	-3.47	0.04753	.	0.213470	0.56097	D	0.000035	D	0.82884	0.5134	L	0.47716	1.5	0.29588	N	0.848661	D	0.61697	0.99	D	0.66497	0.944	T	0.81239	-0.1023	10	0.72032	D	0.01	.	14.6758	0.68978	0.0:0.6858:0.0:0.3142	.	699	Q99835	SMO_HUMAN	R	699	ENSP00000249373:S699R	ENSP00000249373:S699R	S	+	3	2	SMO	128639261	0.000000	0.05858	0.165000	0.22776	0.056000	0.15407	-0.850000	0.04317	-0.981000	0.03520	-0.353000	0.07706	AGT		0.677	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1		NM_005631	
RBM33	155435	broad.mit.edu	37	7	155465597	155465597	+	Silent	SNP	A	A	T			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr7:155465597A>T	ENST00000401878.3	+	3	357	c.159A>T	c.(157-159)ctA>ctT	p.L53L	RBM33_ENST00000392759.3_Silent_p.L53L|RBM33_ENST00000287912.3_Silent_p.L53L	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	53							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L53L(3)		breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		AAGATTTGCTATCTGGCAAAA	0.323																																																	3	Substitution - coding silent(3)	kidney(3)											47.0	45.0	46.0					7																	155465597		1773	3970	5743	SO:0001819	synonymous_variant	155435			AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.159A>T	7.37:g.155465597A>T		Somatic		WXS	Illumina GAIIx	Phase_I	A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Silent	SNP	ENST00000401878.3	37	CCDS5941.2																																																																																				0.323	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3		NM_001008408	
ZNF747	65988	broad.mit.edu	37	16	30545836	30545836	+	Silent	SNP	C	C	A			TCGA-BP-5178-01A-01D-1429-08	TCGA-BP-5178-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60888dc5-1408-4bfb-bf27-f3e22f5488e4	ff9ec7ea-b456-45d6-87bb-78d0a4546c3e	g.chr16:30545836C>A	ENST00000252799.3	-	1	832	c.165G>T	c.(163-165)cgG>cgT	p.R55R	ZNF747_ENST00000535210.1_Silent_p.R55R|ZNF747_ENST00000569360.1_Silent_p.R55R|AC002310.12_ENST00000569752.1_RNA|AC002310.13_ENST00000568114.1_Intron|ZNF747_ENST00000568028.1_Silent_p.R55R|AC002310.12_ENST00000457283.3_RNA|ZNF747_ENST00000395094.3_Silent_p.R55R	NM_023931.2	NP_076420.1	Q9BV97	ZN747_HUMAN	zinc finger protein 747	55	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)	p.R55R(1)		kidney(1)|lung(3)|prostate(1)	5						TCTGCGCGGGCCGCAGGCAGC	0.726																																																	1	Substitution - coding silent(1)	kidney(1)											14.0	17.0	16.0					16																	30545836		2188	4288	6476	SO:0001819	synonymous_variant	65988			BC001361	CCDS10682.1	16p11.2	2013-01-08			ENSG00000169955	ENSG00000169955		"""Zinc fingers, C2H2-type"", ""-"""	28350	protein-coding gene	gene with protein product						10493829	Standard	NM_023931		Approved	MGC2474	uc002dyn.3	Q9BV97	OTTHUMG00000132401	ENST00000252799.3:c.165G>T	16.37:g.30545836C>A		Somatic		WXS	Illumina GAIIx	Phase_I	A8K827|B7WNU3|Q59FB4|Q96NW0	Silent	SNP	ENST00000252799.3	37	CCDS10682.1																																																																																				0.726	ZNF747-001	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255532.2		NM_023931	
