#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
ACD	65057	broad.mit.edu;ucsc.edu	37	16	67694268	67694269	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr16:67694268_67694269insG	ENST00000393919.4	-	1	377_378	c.113_114insC	c.(112-114)cctfs	p.P38fs	PARD6A_ENST00000458121.2_5'Flank|ACD_ENST00000219251.8_Frame_Shift_Ins_p.P38fs|PARD6A_ENST00000219255.3_5'Flank|PARD6A_ENST00000602551.1_5'Flank			Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	38					intracellular protein transport (GO:0006886)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of single-stranded telomeric DNA binding (GO:0060381)|positive regulation of telomerase activity (GO:0051973)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CCTGCGCACGAGGGCGTCCTGC	0.723																																																	0																																										SO:0001589	frameshift_variant	65057			AF070535	CCDS10842.1, CCDS42181.1	16q22	2012-08-23			ENSG00000102977	ENSG00000102977			25070	protein-coding gene	gene with protein product	"""TIN2 interacting protein 1"", ""POT1 and TIN2 organizing protein"""	609377				15231715, 15181449	Standard	NM_001082486		Approved	Ptop, Pip1, Tpp1, Tint1	uc002etq.4	Q96AP0	OTTHUMG00000137547	ENST00000393919.4:c.114dupC	16.37:g.67694271_67694271dupG	ENSP00000377496:p.Pro38fs	Somatic		WXS	Illumina GAIIx	Phase_I	Q562H5|Q9H8F9	Frame_Shift_Ins	INS	ENST00000393919.4	37	CCDS42181.1																																																																																				0.723	ACD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268880.1		NM_022914	
ACN9	57001	hgsc.bcm.edu;ucsc.edu	37	7	96747041	96747046	+	In_Frame_Del	DEL	GGGGCG	GGGGCG	-	rs199949264|rs566561181|rs569982446		TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	GGGGCG	GGGGCG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr7:96747041_96747046delGGGGCG	ENST00000360382.4	+	1	7_12	c.6_11delGGGGCG	c.(4-12)ccggggcgg>ccg	p.GR3del	ACN9_ENST00000432641.2_In_Frame_Del_p.GR3del					ACN9 homolog (S. cerevisiae)									p.R4Q(1)		large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3)	10	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)					GCGCTATGCCGGGGCGGCACGTTTCT	0.646																																																	1	Substitution - Missense(1)	lung(1)																																								SO:0001651	inframe_deletion	57001			BC028409	CCDS5648.1	7q22.1	2006-02-09			ENSG00000196636	ENSG00000196636			21752	protein-coding gene	gene with protein product		615773					Standard	NM_020186		Approved	DC11	uc003uoo.4	Q9NRP4	OTTHUMG00000154064	ENST00000360382.4:c.6_11delGGGGCG	7.37:g.96747041_96747046delGGGGCG	ENSP00000353548:p.Gly3_Arg4del	Somatic		WXS	Illumina HiSeq	Phase_I		In_Frame_Del	DEL	ENST00000360382.4	37																																																																																					0.646	ACN9-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333686.3		NM_020186	
ADCY5	111	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	123044195	123044195	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr3:123044195G>T	ENST00000462833.1	-	8	3274	c.2062C>A	c.(2062-2064)Cag>Aag	p.Q688K	ADCY5_ENST00000491190.1_Missense_Mutation_p.Q321K|ADCY5_ENST00000309879.5_Missense_Mutation_p.Q338K	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	688					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.Q688K(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TTGGACACCTGGTTGCCACCC	0.622																																																	1	Substitution - Missense(1)	kidney(1)											97.0	96.0	96.0					3																	123044195		2203	4300	6503	SO:0001583	missense	111			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.2062C>A	3.37:g.123044195G>T	ENSP00000419361:p.Gln688Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	G	7.344	0.621574	0.14193	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000001	T	0.49474	0.1559	N	0.00885	-1.115	0.45403	D	0.998389	B;B	0.29805	0.257;0.0	B;B	0.36030	0.216;0.004	T	0.58272	-0.7665	10	0.06365	T	0.9	.	13.9127	0.63878	0.0:0.0:0.848:0.152	.	688;321	O95622;B3KWA8	ADCY5_HUMAN;.	K	688;321;338;247	ENSP00000419361:Q688K;ENSP00000418537:Q321K;ENSP00000308685:Q338K;ENSP00000420082:Q247K	ENSP00000308685:Q338K	Q	-	1	0	ADCY5	124526885	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.844000	0.69430	2.728000	0.93425	0.655000	0.94253	CAG		0.622	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4		XM_171048	
ANGPTL6	83854	broad.mit.edu;hgsc.bcm.edu	37	19	10206762	10206762	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr19:10206762G>C	ENST00000253109.4	-	2	716	c.478C>G	c.(478-480)Ctg>Gtg	p.L160V	ANGPTL6_ENST00000592641.1_Missense_Mutation_p.L160V|ANGPTL6_ENST00000589181.1_Missense_Mutation_p.L160V	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	160					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)		p.L160V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			TTGACGTCCAGCTGGTGGAAC	0.751																																																	1	Substitution - Missense(1)	kidney(1)											8.0	9.0	8.0					19																	10206762		1868	3635	5503	SO:0001583	missense	83854			AB054064	CCDS12224.1	19p13.2	2013-02-06				ENSG00000130812		"""Fibrinogen C domain containing"""	23140	protein-coding gene	gene with protein product	"""angiopoietin-related protein 5"""	609336				12871997	Standard	NM_031917		Approved	ARP5, AGF	uc002mmy.1	Q8NI99		ENST00000253109.4:c.478C>G	19.37:g.10206762G>C	ENSP00000253109:p.Leu160Val	Somatic		WXS	Illumina HiSeq	Phase_I	A5PKV7|Q9BZZ0	Missense_Mutation	SNP	ENST00000253109.4	37	CCDS12224.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285247	0.80803	.	.	ENSG00000130812	ENST00000253109	T	0.68479	-0.33	4.26	1.63	0.23807	.	0.317119	0.25391	N	0.031013	T	0.72653	0.3487	L	0.46819	1.47	0.49389	D	0.99978	D	0.76494	0.999	D	0.78314	0.991	T	0.72443	-0.4292	10	0.62326	D	0.03	.	9.8642	0.41134	0.2187:0.0:0.7813:0.0	.	160	Q8NI99	ANGL6_HUMAN	V	160	ENSP00000253109:L160V	ENSP00000253109:L160V	L	-	1	2	ANGPTL6	10067762	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.974000	0.40559	0.821000	0.34540	0.455000	0.32223	CTG		0.751	ANGPTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451142.1		NM_031917	
ARID1A	8289	hgsc.bcm.edu;ucsc.edu	37	1	27105569	27105570	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	TC	TC	TC	-	TC	TC	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr1:27105569_27105570delTC	ENST00000324856.7	+	20	5551_5552	c.5180_5181delTC	c.(5179-5181)atcfs	p.I1727fs	ARID1A_ENST00000540690.1_Frame_Shift_Del_p.I55fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.I1344fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.I1510fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1727					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.G1729fs*7(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTGATTGAGATCTTTGGCATTT	0.475			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	1	Insertion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5180_5181delTC	1.37:g.27105569_27105570delTC	ENSP00000320485:p.Ile1727fs	Somatic		WXS	Illumina HiSeq	Phase_I	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	37	CCDS285.1																																																																																				0.475	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135	
ATG13	9776	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	46666953	46666953	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr11:46666953C>A	ENST00000434074.1	+	3	823	c.134C>A	c.(133-135)cCa>cAa	p.P45Q	ATG13_ENST00000312040.4_Missense_Mutation_p.P45Q|ATG13_ENST00000529655.1_Missense_Mutation_p.P45Q|ATG13_ENST00000530500.1_5'UTR|ATG13_ENST00000526508.1_Missense_Mutation_p.P45Q|ATG13_ENST00000451945.1_Missense_Mutation_p.P45Q|ATG13_ENST00000524625.1_Missense_Mutation_p.P45Q|ATG13_ENST00000528494.1_Missense_Mutation_p.P45Q|ATG13_ENST00000359513.4_Missense_Mutation_p.P45Q	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	45					autophagic vacuole assembly (GO:0000045)	ATG1/UKL1 signaling complex (GO:0034273)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)|ULK1-ATG13-FIP200 complex (GO:0070969)	protein kinase binding (GO:0019901)	p.P45Q(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						TCATCTTCTCCAACGGGTTCA	0.348																																																	2	Substitution - Missense(2)	kidney(2)											122.0	117.0	119.0					11																	46666953		2201	4299	6500	SO:0001583	missense	9776			AB014552	CCDS7921.1, CCDS44582.1, CCDS55760.1, CCDS55761.1	11p11.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000175224	ENSG00000175224			29091	protein-coding gene	gene with protein product		615088	"""KIAA0652"", ""ATG13 autophagy related 13 homolog (S. cerevisiae)"""	KIAA0652		15169610, 18339812, 17204848	Standard	NM_001205120		Approved		uc001nda.3	O75143	OTTHUMG00000166538	ENST00000434074.1:c.134C>A	11.37:g.46666953C>A	ENSP00000400642:p.Pro45Gln	Somatic		WXS	Illumina HiSeq	Phase_I	B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Missense_Mutation	SNP	ENST00000434074.1	37	CCDS44582.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775927	0.90195	.	.	ENSG00000175224	ENST00000395549;ENST00000434074;ENST00000312040;ENST00000451945;ENST00000529655;ENST00000533325;ENST00000526508;ENST00000524625;ENST00000359513;ENST00000528494;ENST00000526078	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.74612	0.3739	L	0.42245	1.32	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.80764	0.972;0.991;0.994	T	0.75277	-0.3374	9	0.66056	D	0.02	-13.3563	19.4568	0.94895	0.0:1.0:0.0:0.0	.	45;45;45	O75143;E9PQZ8;O75143-2	ATG13_HUMAN;.;.	Q	45	.	ENSP00000310321:P45Q	P	+	2	0	ATG13	46623529	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	7.103000	0.77014	2.832000	0.97577	0.655000	0.94253	CCA		0.348	ATG13-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390300.2		NM_014741	
ATP11C	286410	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	138827926	138827926	+	Silent	SNP	C	C	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chrX:138827926C>T	ENST00000327569.3	-	25	3026	c.2928G>A	c.(2926-2928)ggG>ggA	p.G976G	ATP11C_ENST00000359686.2_Silent_p.G976G|ATP11C_ENST00000361648.2_Silent_p.G976G|ATP11C_ENST00000370557.1_Silent_p.G970G|ATP11C_ENST00000370543.1_Silent_p.G976G|ATP11C_ENST00000460773.1_5'UTR	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	976					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.G976G(2)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					GAAAGTAAGTCCCAAAGAAGA	0.388																																																	2	Substitution - coding silent(2)	kidney(2)											91.0	81.0	84.0					X																	138827926		2203	4300	6503	SO:0001819	synonymous_variant	286410			AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.2928G>A	X.37:g.138827926C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Silent	SNP	ENST00000327569.3	37	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	C	9.512	1.105883	0.20632	.	.	ENSG00000101974	ENST00000433868	.	.	.	5.97	5.04	0.67666	.	.	.	.	.	T	0.71576	0.3356	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70483	-0.4859	4	.	.	.	.	15.8522	0.78940	0.1452:0.8548:0.0:0.0	.	.	.	.	N	9	.	.	D	-	1	0	ATP11C	138655592	0.998000	0.40836	1.000000	0.80357	0.984000	0.73092	0.597000	0.24059	2.527000	0.85204	0.600000	0.82982	GAC		0.388	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1		NM_173694	
ATP8B1	5205	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	55399034	55399034	+	Silent	SNP	A	A	G			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr18:55399034A>G	ENST00000283684.4	-	1	5	c.6T>C	c.(4-6)agT>agC	p.S2S	RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000536015.1_Silent_p.S2S			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	2					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.S2S(1)		breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				CTCTTTCTGTACTCATTCTGC	0.423																																																	1	Substitution - coding silent(1)	kidney(1)											250.0	250.0	250.0					18																	55399034		2203	4300	6503	SO:0001819	synonymous_variant	5205			AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.6T>C	18.37:g.55399034A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q9BTP8	Silent	SNP	ENST00000283684.4	37	CCDS11965.1																																																																																				0.423	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1		NM_005603	
ATRX	546	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	76939124	76939124	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chrX:76939124C>G	ENST00000373344.5	-	9	1838	c.1624G>C	c.(1624-1626)Gtt>Ctt	p.V542L	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.V504L	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	542					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.V542L(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TGATGATCAACTGAACTCTGA	0.383			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	3	Substitution - Missense(2)|Unknown(1)	kidney(2)|bone(1)											170.0	178.0	176.0					X																	76939124		2203	4294	6497	SO:0001583	missense	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1624G>C	X.37:g.76939124C>G	ENSP00000362441:p.Val542Leu	Somatic		WXS	Illumina HiSeq	Phase_I	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	c	1.467	-0.560940	0.03939	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.91295	-2.81;-2.82	5.21	0.811	0.18739	.	0.380247	0.24608	U	0.037065	T	0.74442	0.3717	N	0.03608	-0.345	0.40399	D	0.979622	B;B;B;B	0.11235	0.002;0.001;0.004;0.002	B;B;B;B	0.13407	0.002;0.002;0.009;0.002	T	0.59925	-0.7362	10	0.35671	T	0.21	-0.5405	6.3501	0.21370	0.3201:0.5107:0.0:0.1692	.	542;503;504;542	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	L	542;504;498	ENSP00000362441:V542L;ENSP00000378967:V504L	ENSP00000362441:V542L	V	-	1	0	ATRX	76825780	0.000000	0.05858	0.449000	0.26957	0.695000	0.40330	-0.701000	0.05075	0.084000	0.17077	0.496000	0.49642	GTT		0.383	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2		NM_000489	
BCL11B	64919	broad.mit.edu;hgsc.bcm.edu	37	14	99641322	99641322	+	Silent	SNP	C	C	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr14:99641322C>T	ENST00000357195.3	-	4	1860	c.1851G>A	c.(1849-1851)aaG>aaA	p.K617K	BCL11B_ENST00000443726.2_Silent_p.K423K|BCL11B_ENST00000345514.2_Silent_p.K546K	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	617	Gly-rich.				alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|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)	p.K617K(1)		NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CGCGCTTCTGCTTGTCGGCCA	0.756			T	TLX3	T-ALL																																			Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	1	Substitution - coding silent(1)	kidney(1)											15.0	14.0	15.0					14																	99641322		2038	3913	5951	SO:0001819	synonymous_variant	64919			AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.1851G>A	14.37:g.99641322C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q9H162	Silent	SNP	ENST00000357195.3	37	CCDS9950.1																																																																																				0.756	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2		NM_138576	
BCL6	604	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	187447399	187447399	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr3:187447399A>T	ENST00000406870.2	-	5	1160	c.794T>A	c.(793-795)aTc>aAc	p.I265N	RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.I265N|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.I265N	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	265					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I265N(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CTCTTCTGGGATTGTTTCCTT	0.557			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																			Dom	yes		3	3q27	604	B-cell CLL/lymphoma 6		L	1	Substitution - Missense(1)	kidney(1)											75.0	77.0	76.0					3																	187447399		2203	4300	6503	SO:0001583	missense	604				CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.794T>A	3.37:g.187447399A>T	ENSP00000384371:p.Ile265Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	A	9.266	1.044450	0.19748	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.08193	3.12;3.12;3.13	5.61	2.45	0.29901	.	0.479884	0.23914	N	0.043302	T	0.04048	0.0113	N	0.14661	0.345	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.11329	0.0;0.006	T	0.41662	-0.9496	10	0.25751	T	0.34	.	3.7355	0.08508	0.2798:0.2032:0.5171:0.0	.	265;265	B8PSA7;P41182	.;BCL6_HUMAN	N	265	ENSP00000384371:I265N;ENSP00000232014:I265N;ENSP00000413122:I265N	ENSP00000232014:I265N	I	-	2	0	BCL6	188930093	0.017000	0.18338	0.001000	0.08648	0.926000	0.56050	1.203000	0.32284	0.248000	0.21435	0.459000	0.35465	ATC		0.557	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1		NM_138931	
CFAP43	80217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	105922142	105922142	+	Missense_Mutation	SNP	A	A	C	rs367753321		TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr10:105922142A>C	ENST00000357060.3	-	25	3381	c.3266T>G	c.(3265-3267)aTt>aGt	p.I1089S	WDR96_ENST00000428666.1_Missense_Mutation_p.I1090S	NM_025145.5	NP_079421.5												p.I1089S(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCACGGCTTAATGTGTTTGTG	0.408																																																	1	Substitution - Missense(1)	kidney(1)											166.0	134.0	145.0					10																	105922142		2203	4300	6503	SO:0001583	missense	0																														ENST00000357060.3:c.3266T>G	10.37:g.105922142A>C	ENSP00000349568:p.Ile1089Ser	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000357060.3	37	CCDS31281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.17|12.17	1.856447|1.856447	0.32791|0.32791	.|.	.|.	ENSG00000197748|ENSG00000197748	ENST00000357060;ENST00000428666|ENST00000434629	T;T|.	0.16196|.	2.4;2.36|.	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	0.593193|.	0.15023|.	N|.	0.284884|.	T|T	0.46112|0.46112	0.1376|0.1376	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	B;B|.	0.25007|.	0.006;0.116|.	B;B|.	0.31101|.	0.018;0.124|.	T|T	0.38090|0.38090	-0.9677|-0.9677	10|5	0.26408|.	T|.	0.33|.	.|.	11.9237|11.9237	0.52806|0.52806	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1090;1089|.	G5E9L1;Q8NDM7|.	.;WDR96_HUMAN|.	S|V	1089;1090|450	ENSP00000349568:I1089S;ENSP00000400289:I1090S|.	ENSP00000349568:I1089S|.	I|L	-|-	2|1	0|2	WDR96|WDR96	105912132|105912132	0.011000|0.011000	0.17503|0.17503	0.004000|0.004000	0.12327|0.12327	0.010000|0.010000	0.07245|0.07245	2.629000|2.629000	0.46485|0.46485	2.126000|2.126000	0.65437|0.65437	0.443000|0.443000	0.29094|0.29094	ATT|TTA		0.408	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				
ELMSAN1	91748	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	74205375	74205375	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr14:74205375A>T	ENST00000286523.5	-	2	2119	c.1337T>A	c.(1336-1338)cTa>cAa	p.L446Q	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.L446Q|ELMSAN1_ENST00000486739.1_5'Flank	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	446					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.L446Q(1)									TCCGCCCCGTAGCACCTGCCC	0.677																																																	1	Substitution - Missense(1)	kidney(1)											47.0	45.0	46.0					14																	74205375		2203	4300	6503	SO:0001583	missense	0			BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.1337T>A	14.37:g.74205375A>T	ENSP00000286523:p.Leu446Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q6PK13|Q6PK59|Q6ZS23	Missense_Mutation	SNP	ENST00000286523.5	37	CCDS9819.1	.	.	.	.	.	.	.	.	.	.	A	11.96	1.793921	0.31777	.	.	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	4.69	3.55	0.40652	.	0.531605	0.16433	N	0.214636	T	0.08802	0.0218	N	0.08118	0	0.24560	N	0.993972	B;B	0.33448	0.412;0.412	B;B	0.32289	0.1;0.143	T	0.21552	-1.0242	10	0.49607	T	0.09	-1.0193	8.9755	0.35932	0.8419:0.0:0.1581:0.0	.	446;446	A0PJD3;Q6PJG2	.;CN043_HUMAN	Q	446	ENSP00000377634:L446Q;ENSP00000286523:L446Q;ENSP00000407767:L446Q;ENSP00000402380:L446Q	ENSP00000286523:L446Q	L	-	2	0	C14orf43	73275128	0.992000	0.36948	0.996000	0.52242	0.811000	0.45836	2.151000	0.42263	0.660000	0.30964	0.402000	0.26972	CTA		0.677	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1		NM_194278	
SPATA32	124783	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	43332848	43332848	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr17:43332848G>T	ENST00000331780.4	-	4	796	c.701C>A	c.(700-702)cCa>cAa	p.P234Q	MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|SPATA32_ENST00000543122.1_Missense_Mutation_p.P213Q|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA	NM_152343.2	NP_689556.2	Q96LK8	SPT32_HUMAN	spermatogenesis associated 32	234				P -> A (in Ref. 2; AAP97314). {ECO:0000305}.	spermatogenesis (GO:0007283)	perinuclear region of cytoplasm (GO:0048471)		p.P234Q(1)									GTCAATGGGTGGCGGGAGATC	0.587																																																	1	Substitution - Missense(1)	kidney(1)											83.0	67.0	72.0					17																	43332848		2203	4300	6503	SO:0001583	missense	0			AK058143	CCDS32669.1	17q21.31	2013-10-11	2012-10-08	2012-10-08	ENSG00000184361	ENSG00000184361			26349	protein-coding gene	gene with protein product	"""acrosome expressed 2"""		"""chromosome 17 open reading frame 46"", ""testis expressed 34"""	C17orf46, TEX34		18621766	Standard	NM_152343		Approved	FLJ25414, AEP2, VAD1.2	uc002iis.1	Q96LK8	OTTHUMG00000180363	ENST00000331780.4:c.701C>A	17.37:g.43332848G>T	ENSP00000331532:p.Pro234Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z4U1|Q8N6V6	Missense_Mutation	SNP	ENST00000331780.4	37	CCDS32669.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.851501	0.32699	.	.	ENSG00000184361	ENST00000331780;ENST00000543122	T;T	0.48522	0.81;0.81	3.61	-0.96	0.10340	.	0.697021	0.12623	N	0.452824	T	0.26159	0.0638	L	0.38838	1.175	0.09310	N	1	P	0.41784	0.762	B	0.35353	0.201	T	0.12400	-1.0549	10	0.33141	T	0.24	-7.909	1.0464	0.01570	0.2137:0.1765:0.4287:0.181	.	234	Q96LK8	CQ046_HUMAN	Q	234;213	ENSP00000331532:P234Q;ENSP00000442724:P213Q	ENSP00000331532:P234Q	P	-	2	0	C17orf46	40688631	0.009000	0.17119	0.000000	0.03702	0.044000	0.14063	1.827000	0.39102	-0.100000	0.12241	0.561000	0.74099	CCA		0.587	SPATA32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450946.1		NM_152343	
CACNA2D4	93589	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	2027490	2027490	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr12:2027490delG	ENST00000382722.5	-	1	512	c.150delC	c.(148-150)accfs	p.T50fs	CACNA2D4_ENST00000585732.1_Frame_Shift_Del_p.T50fs|RP5-1096D14.3_ENST00000544163.1_RNA|CACNA2D4_ENST00000586184.1_Frame_Shift_Del_p.T50fs|CACNA2D4_ENST00000587995.1_Frame_Shift_Del_p.T50fs	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	50					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GGAGGGCCGAGGTCTTCTGCA	0.622																																					Colon(2;101 179 21030 23310 28141)												0													22.0	25.0	24.0					12																	2027490		1898	4123	6021	SO:0001589	frameshift_variant	93589			AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.150delC	12.37:g.2027490delG	ENSP00000372169:p.Thr50fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z3S8|Q86XZ5|Q8IZS9	Frame_Shift_Del	DEL	ENST00000382722.5	37	CCDS44785.1																																																																																				0.622	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			
MCU	90550	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	74619047	74619047	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr10:74619047T>G	ENST00000373053.3	+	3	354	c.333T>G	c.(331-333)ttT>ttG	p.F111L	MCU_ENST00000357157.6_Missense_Mutation_p.F111L|MCU_ENST00000536019.1_Missense_Mutation_p.F62L	NM_138357.2	NP_612366.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	111					calcium ion transmembrane import into mitochondrion (GO:0036444)|calcium-mediated signaling (GO:0019722)|glucose homeostasis (GO:0042593)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein complex oligomerization (GO:0035786)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|uniplex complex (GO:1990246)	calcium channel activity (GO:0005262)|uniporter activity (GO:0015292)	p.F111L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						TTGGTGTATTTTTACGACAAC	0.423																																																	1	Substitution - Missense(1)	kidney(1)											180.0	169.0	173.0					10																	74619047		2203	4300	6503	SO:0001583	missense	0			BC034235	CCDS7317.1, CCDS59218.1, CCDS59219.1	10q22.2	2011-06-23	2011-06-23	2011-06-23	ENSG00000156026	ENSG00000156026			23526	protein-coding gene	gene with protein product		614197	"""coiled-coil domain containing 109A"""	C10orf42, CCDC109A		21685886, 21685888	Standard	NM_138357		Approved	FLJ46135	uc001jtc.3	Q8NE86	OTTHUMG00000018443	ENST00000373053.3:c.333T>G	10.37:g.74619047T>G	ENSP00000362144:p.Phe111Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B2RDF3|B3KXV7|Q96FL3	Missense_Mutation	SNP	ENST00000373053.3	37	CCDS7317.1	.	.	.	.	.	.	.	.	.	.	T	14.88	2.668608	0.47677	.	.	ENSG00000156026	ENST00000373053;ENST00000357157;ENST00000536019	T;T;T	0.33216	1.42;1.42;1.42	5.65	4.52	0.55395	Coiled-coil domain containing protein 109, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.24509	0.0594	L	0.41079	1.255	0.80722	D	1	B;B;B	0.19445	0.029;0.003;0.036	B;B;B	0.27608	0.063;0.016;0.081	T	0.06770	-1.0808	10	0.41790	T	0.15	-13.62	6.2994	0.21105	0.0:0.2952:0.0:0.7048	.	111;62;111	Q8NE86-2;Q8NE86-3;Q8NE86	.;.;MCU_HUMAN	L	111;111;62	ENSP00000362144:F111L;ENSP00000349680:F111L;ENSP00000440913:F62L	ENSP00000349680:F111L	F	+	3	2	MCU	74289053	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.708000	0.61859	0.973000	0.38340	0.477000	0.44152	TTT		0.423	MCU-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048594.1		NM_138357	
CEP95	90799	broad.mit.edu;hgsc.bcm.edu	37	17	62512942	62512942	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr17:62512942G>C	ENST00000556440.2	+	5	979	c.469G>C	c.(469-471)Ggg>Cgg	p.G157R	CEP95_ENST00000553412.1_Intron	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	157						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)		p.G157R(2)		endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						AGTTTCTTTTGGGAGGTAGCA	0.343																																																	2	Substitution - Missense(2)	kidney(2)											98.0	93.0	95.0					17																	62512942		1830	4078	5908	SO:0001583	missense	0			AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"""coiled-coil domain containing 45"""	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.469G>C	17.37:g.62512942G>C	ENSP00000450461:p.Gly157Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B4DMD2|Q96M81	Missense_Mutation	SNP	ENST00000556440.2	37	CCDS45763.1	.	.	.	.	.	.	.	.	.	.	G	1.211	-0.629729	0.03610	.	.	ENSG00000258890	ENST00000556440	T	0.30182	1.54	4.98	2.97	0.34412	.	1.369710	0.04364	N	0.358008	T	0.26593	0.0650	L	0.44542	1.39	0.80722	D	1	P	0.35383	0.498	B	0.34093	0.175	T	0.10847	-1.0612	10	0.22706	T	0.39	-0.8155	6.4086	0.21678	0.1:0.1855:0.7144:0.0	.	157	Q96GE4	CEP95_HUMAN	R	157	ENSP00000450461:G157R	ENSP00000437744:G157R	G	+	1	0	CEP95	59943404	0.995000	0.38212	0.973000	0.42090	0.020000	0.10135	1.106000	0.31098	0.791000	0.33826	-0.156000	0.13503	GGG		0.343	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2		NM_138363	
CDHR5	53841	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	621602	621602	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr11:621602T>C	ENST00000358353.3	-	6	789	c.467A>G	c.(466-468)aAg>aGg	p.K156R	CDHR5_ENST00000529337.1_5'Flank|CDHR5_ENST00000349570.7_Missense_Mutation_p.K156R|CDHR5_ENST00000397542.2_Missense_Mutation_p.K156R			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	156	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043, ECO:0000305}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)	p.K156R(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						AATGTCGTCCTTGTCGCGGTC	0.642																																																	1	Substitution - Missense(1)	kidney(1)											161.0	126.0	138.0					11																	621602		2203	4300	6503	SO:0001583	missense	53841			AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.467A>G	11.37:g.621602T>C	ENSP00000351118:p.Lys156Arg	Somatic		WXS	Illumina HiSeq	Phase_I	C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Missense_Mutation	SNP	ENST00000358353.3	37	CCDS7707.1	.	.	.	.	.	.	.	.	.	.	t	6.618	0.482408	0.12581	.	.	ENSG00000099834	ENST00000397542;ENST00000358353;ENST00000326366;ENST00000349570;ENST00000526077;ENST00000534311	T;T;T;T;T	0.45276	1.18;1.18;1.18;0.9;0.9	3.91	-1.65	0.08291	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.22781	0.0550	L	0.41236	1.265	0.09310	N	1	B;P;B;B	0.45827	0.403;0.867;0.091;0.112	B;B;B;B	0.39027	0.088;0.288;0.027;0.019	T	0.15752	-1.0426	9	0.15952	T	0.53	-6.3668	0.6771	0.00869	0.3469:0.1063:0.1785:0.3682	.	156;156;156;156	Q58EZ6;Q9HBB8-4;Q9HBB8-2;Q9HBB8	.;.;.;CDHR5_HUMAN	R	156;156;156;156;125;133	ENSP00000380676:K156R;ENSP00000351118:K156R;ENSP00000345726:K156R;ENSP00000435082:K125R;ENSP00000436295:K133R	ENSP00000326527:K156R	K	-	2	0	CDHR5	611602	0.000000	0.05858	0.006000	0.13384	0.001000	0.01503	-0.730000	0.04915	-0.140000	0.11394	-0.702000	0.03669	AAG		0.642	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2		NM_021924	
CELSR2	1952	hgsc.bcm.edu	37	1	109792735	109792736	+	In_Frame_Ins	INS	-	-	CGC	rs377757908|rs59201433|rs144034706	byFrequency	TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr1:109792735_109792736insCGC	ENST00000271332.3	+	1	95_96	c.34_35insCGC	c.(34-36)acg>aCGCcg	p.16_17insP		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	16					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCCCCTCCCAACgccgccgccg	0.752														2846	0.568291	0.4198	0.6311	5008	,	,		10222	0.5298		0.7276	False		,,,				2504	0.6002				NSCLC(158;1285 2011 34800 34852 42084)												0										1363,1439		473,417,511						3.0	0.1		dbSNP_130	6	4135,1897		1679,777,560	no	coding	CELSR2	NM_001408.2		2152,1194,1071	A1A1,A1R,RR		31.4489,48.6438,37.7632				5498,3336				SO:0001652	inframe_insertion	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.47_49dupCGC	1.37:g.109792742_109792744dupCGC	ENSP00000271332:p.Pro16_Pro16dup	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T2Y7|Q92566	In_Frame_Ins	INS	ENST00000271332.3	37	CCDS796.1																																																																																				0.752	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1		NM_001408	
CHST12	55501	hgsc.bcm.edu;ucsc.edu	37	7	2473500	2473500	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr7:2473500delA	ENST00000258711.6	+	2	1361	c.1226delA	c.(1225-1227)gaafs	p.E409fs		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	409					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CCCAAGCCCGAAAACCTCCTC	0.547																																																	0													55.0	61.0	59.0					7																	2473500		2203	4300	6503	SO:0001589	frameshift_variant	55501			AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.1226delA	7.37:g.2473500delA	ENSP00000258711:p.Glu409fs	Somatic		WXS	Illumina HiSeq	Phase_I	A4D1Z9|Q502W3|Q9NXY7	Frame_Shift_Del	DEL	ENST00000258711.6	37	CCDS5333.1																																																																																				0.547	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060170.3		NM_018641	
COPS5	10987	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	67970384	67970384	+	Silent	SNP	A	A	G			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr8:67970384A>G	ENST00000357849.4	-	3	761	c.441T>C	c.(439-441)ctT>ctC	p.L147L	PPP1R42_ENST00000517834.1_5'Flank|COPS5_ENST00000519963.1_5'Flank|COPS5_ENST00000517736.1_Silent_p.L83L|AC109335.1_ENST00000578628.1_RNA	NM_006837.2	NP_006828.2	Q92905	CSN5_HUMAN	COP9 signalosome subunit 5	147	MPN.				cullin deneddylation (GO:0010388)|exosomal secretion (GO:1990182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein deneddylation (GO:0000338)|protein deubiquitination (GO:0016579)|regulation of cell cycle (GO:0051726)|regulation of JNK cascade (GO:0046328)|transcription from RNA polymerase II promoter (GO:0006366)|translation (GO:0006412)|translational initiation (GO:0006413)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 3 complex (GO:0005852)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|transcription coactivator activity (GO:0003713)|translation initiation factor activity (GO:0003743)|ubiquitin-specific protease activity (GO:0004843)	p.L147L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CAATCCCAGAAAGCCAGCAGC	0.418																																																	1	Substitution - coding silent(1)	kidney(1)											60.0	59.0	59.0					8																	67970384		2203	4300	6503	SO:0001819	synonymous_variant	10987			U65928	CCDS6198.1	8q13.1	2013-03-14	2013-03-14		ENSG00000121022	ENSG00000121022			2240	protein-coding gene	gene with protein product		604850	"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 5"", ""COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis)"""			8837781, 9341143	Standard	NM_006837		Approved	JAB1, SGN5, MOV-34, CSN5	uc003xxe.3	Q92905	OTTHUMG00000164563	ENST00000357849.4:c.441T>C	8.37:g.67970384A>G		Somatic		WXS	Illumina HiSeq	Phase_I	O15386|Q6AW95|Q86WQ4|Q9BQ17	Silent	SNP	ENST00000357849.4	37	CCDS6198.1																																																																																				0.418	COPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379245.2			
CORO7	79585	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	4408461	4408461	+	Silent	SNP	C	C	T	rs151072609		TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr16:4408461C>T	ENST00000251166.4	-	24	2509	c.2364G>A	c.(2362-2364)acG>acA	p.T788T	CORO7-PAM16_ENST00000572274.1_5'UTR|PAM16_ENST00000576217.1_5'Flank|CORO7-PAM16_ENST00000572467.1_Silent_p.T788T|CORO7_ENST00000574025.1_Silent_p.T703T|CORO7_ENST00000537233.2_Silent_p.T770T|CORO7_ENST00000539968.1_Silent_p.T568T	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	788					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)	p.T788T(1)		breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CGTCGCACTCCGTCTTAGGCA	0.697																																																	1	Substitution - coding silent(1)	kidney(1)											37.0	39.0	39.0					16																	4408461		2196	4298	6494	SO:0001819	synonymous_variant	79585			AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.2364G>A	16.37:g.4408461C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B4DFD6|B4DL18|I3L416|Q17RK4	Silent	SNP	ENST00000251166.4	37	CCDS10513.1																																																																																				0.697	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2		NM_024535	
CUL7	9820	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	43017376	43017376	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr6:43017376C>T	ENST00000265348.3	-	7	1679	c.1594G>A	c.(1594-1596)Gaa>Aaa	p.E532K	CUL7_ENST00000535468.1_Missense_Mutation_p.E616K|CUL7_ENST00000478630.1_5'Flank			Q14999	CUL7_HUMAN	cullin 7	532					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.E532K(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ACGGCCAGTTCAGCTAGGATC	0.577																																																	1	Substitution - Missense(1)	kidney(1)											86.0	81.0	83.0					6																	43017376		2203	4300	6503	SO:0001583	missense	9820			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.1594G>A	6.37:g.43017376C>T	ENSP00000265348:p.Glu532Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.939456	0.73557	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.64803	-0.12;-0.12	5.6	5.6	0.85130	.	0.485127	0.23554	N	0.046938	T	0.62816	0.2459	M	0.68317	2.08	0.80722	D	1	P;D	0.65815	0.607;0.995	B;P	0.56278	0.187;0.795	T	0.69647	-0.5089	10	0.87932	D	0	-22.057	8.4214	0.32703	0.0:0.7488:0.1687:0.0825	.	616;532	F5H0L1;Q14999	.;CUL7_HUMAN	K	532;616	ENSP00000265348:E532K;ENSP00000438788:E616K	ENSP00000265348:E532K	E	-	1	0	CUL7	43125354	0.992000	0.36948	0.991000	0.47740	0.623000	0.37688	2.565000	0.45939	2.640000	0.89533	0.655000	0.94253	GAA		0.577	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1		NM_014780	
CRIP3	401262	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	43276136	43276136	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr6:43276136T>C	ENST00000274990.4	-	2	59	c.55A>G	c.(55-57)Agc>Ggc	p.S19G	ZNF318_ENST00000607252.1_5'UTR|CRIP3_ENST00000372569.3_Missense_Mutation_p.S19G			Q6Q6R5	CRIP3_HUMAN	cysteine-rich protein 3	19	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.S19G(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CCCAGGGAGCTCACCTTCTCA	0.612																																																	1	Substitution - Missense(1)	kidney(1)											51.0	47.0	48.0					6																	43276136		2203	4300	6503	SO:0001583	missense	401262			AY555741	CCDS4894.2	6p21	2008-02-05			ENSG00000146215	ENSG00000146215			17751	protein-coding gene	gene with protein product						15380775	Standard	NM_206922		Approved	TLP-A, bA480N24.2, TLP	uc003ouu.1	Q6Q6R5	OTTHUMG00000014727	ENST00000274990.4:c.55A>G	6.37:g.43276136T>C	ENSP00000274990:p.Ser19Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A2A436|Q5T043|Q6Q6R4|Q6Q6R6|Q6Q6R7	Missense_Mutation	SNP	ENST00000274990.4	37		.	.	.	.	.	.	.	.	.	.	T	20.6	4.016060	0.75161	.	.	ENSG00000146215	ENST00000372569;ENST00000274990	D;D	0.87729	-2.29;-2.29	5.03	5.03	0.67393	Zinc finger, LIM-type (5);	0.055333	0.64402	D	0.000002	D	0.91338	0.7268	M	0.76838	2.35	0.48901	D	0.999725	D;D	0.61697	0.989;0.99	P;D	0.72982	0.829;0.979	D	0.92381	0.5913	10	0.66056	D	0.02	-5.2528	12.7507	0.57306	0.0:0.0:0.0:1.0	.	19;19	Q6Q6R5;Q6Q6R5-3	CRIP3_HUMAN;.	G	19	ENSP00000361650:S19G;ENSP00000274990:S19G	ENSP00000274990:S19G	S	-	1	0	CRIP3	43384114	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.349000	0.59385	2.105000	0.64084	0.459000	0.35465	AGC		0.612	CRIP3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000313968.1			
EFTUD2	9343	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	42953390	42953390	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr17:42953390C>A	ENST00000426333.2	-	10	1078	c.781G>T	c.(781-783)Gac>Tac	p.D261Y	EFTUD2_ENST00000592576.1_Missense_Mutation_p.D251Y|EFTUD2_ENST00000591382.1_Missense_Mutation_p.D261Y|EFTUD2_ENST00000402521.3_Missense_Mutation_p.D226Y	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	261	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.D261Y(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				ATCAGCCGGTCAATCTTGTTG	0.502																																					Ovarian(10;65 485 10258 29980 30707)												1	Substitution - Missense(1)	kidney(1)											181.0	159.0	166.0					17																	42953390		2203	4300	6503	SO:0001583	missense	9343			D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.781G>T	17.37:g.42953390C>A	ENSP00000392094:p.Asp261Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483914	0.84854	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	D;D	0.95377	-3.69;-3.69	4.96	4.96	0.65561	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (2);	0.000000	0.85682	D	0.000000	D	0.98931	0.9637	H	0.99391	4.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99157	1.0860	10	0.87932	D	0	-0.249	18.4011	0.90516	0.0:1.0:0.0:0.0	.	251;261	B4DMC0;Q15029	.;U5S1_HUMAN	Y	261;251;226	ENSP00000392094:D261Y;ENSP00000385873:D226Y	ENSP00000262414:D251Y	D	-	1	0	EFTUD2	40308916	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	7.601000	0.82783	2.589000	0.87451	0.591000	0.81541	GAC		0.502	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1		NM_004247	
DNAH17	8632	broad.mit.edu;hgsc.bcm.edu	37	17	76535832	76535832	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr17:76535832T>C	ENST00000585328.1	-	18	2787	c.2663A>G	c.(2662-2664)aAc>aGc	p.N888S	DNAH17_ENST00000389840.5_Missense_Mutation_p.N888S	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	888	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.N888S(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TATAACCATGTTGTCCATTAG	0.348																																																	1	Substitution - Missense(1)	kidney(1)											57.0	56.0	56.0					17																	76535832		1849	4087	5936	SO:0001583	missense	8632			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.2663A>G	17.37:g.76535832T>C	ENSP00000465516:p.Asn888Ser	Somatic		WXS	Illumina HiSeq	Phase_I	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37		.	.	.	.	.	.	.	.	.	.	T	11.01	1.513454	0.27123	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.23147	1.92	4.8	4.8	0.61643	.	.	.	.	.	T	0.40886	0.1135	M	0.66439	2.03	0.40770	D	0.983081	.	.	.	.	.	.	T	0.23691	-1.0181	7	0.31617	T	0.26	.	14.3504	0.66697	0.0:0.0:0.0:1.0	.	.	.	.	S	888	ENSP00000374490:N888S	ENSP00000300671:N888S	N	-	2	0	DNAH17	74047427	1.000000	0.71417	1.000000	0.80357	0.268000	0.26511	5.305000	0.65750	1.795000	0.52594	0.533000	0.62120	AAC		0.348	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2		NM_173628	
EGFR	1956	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	55249116	55249116	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr7:55249116A>G	ENST00000275493.2	+	20	2591	c.2414A>G	c.(2413-2415)cAc>cGc	p.H805R	EGFR_ENST00000442591.1_Intron|EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000455089.1_Missense_Mutation_p.H760R|EGFR_ENST00000454757.2_Missense_Mutation_p.H752R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	805	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.H805R(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GTCCGGGAACACAAAGACAAT	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	1	Substitution - Missense(1)	kidney(1)											93.0	81.0	85.0					7																	55249116		2203	4300	6503	SO:0001583	missense	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2414A>G	7.37:g.55249116A>G	ENSP00000275493:p.His805Arg	Somatic		WXS	Illumina HiSeq	Phase_I	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	A	17.17	3.320565	0.60634	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	D;D;D	0.82081	-1.57;-1.57;-1.57	5.92	4.75	0.60458	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.087681	0.85682	D	0.000000	T	0.77205	0.4096	L	0.33293	1	0.42793	D	0.993904	B;P	0.49090	0.305;0.919	B;B	0.44044	0.032;0.439	T	0.78011	-0.2371	10	0.56958	D	0.05	.	12.3069	0.54908	0.8582:0.1418:0.0:0.0	.	760;805	Q504U8;P00533	.;EGFR_HUMAN	R	760;675;805;752	ENSP00000415559:H760R;ENSP00000275493:H805R;ENSP00000395243:H752R	ENSP00000275493:H805R	H	+	2	0	EGFR	55216610	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.303000	0.96183	1.041000	0.40125	0.533000	0.62120	CAC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2		NM_005228	
EP300	2033	broad.mit.edu;hgsc.bcm.edu	37	22	41513594	41513594	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr22:41513594C>A	ENST00000263253.7	+	2	1717	c.498C>A	c.(496-498)aaC>aaA	p.N166K		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	166					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.N166K(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGGGAATGAACACAGGGATGA	0.507			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	1	Substitution - Missense(1)	kidney(1)											101.0	84.0	90.0					22																	41513594		2203	4300	6503	SO:0001583	missense	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.498C>A	22.37:g.41513594C>A	ENSP00000263253:p.Asn166Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.793045	0.31685	.	.	ENSG00000100393	ENST00000263253	D	0.83163	-1.69	6.17	6.17	0.99709	.	0.000000	0.52532	D	0.000064	D	0.85371	0.5681	M	0.63843	1.955	0.39998	D	0.975139	P	0.47302	0.893	P	0.52066	0.689	T	0.81344	-0.0975	10	0.16896	T	0.51	-9.8786	14.9567	0.71120	0.0:0.9326:0.0:0.0674	.	166	Q09472	EP300_HUMAN	K	166	ENSP00000263253:N166K	ENSP00000263253:N166K	N	+	3	2	EP300	39843540	0.939000	0.31865	1.000000	0.80357	0.994000	0.84299	1.152000	0.31663	2.941000	0.99782	0.655000	0.94253	AAC		0.507	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1		NM_001429	
ESPL1	9700	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53685569	53685569	+	Silent	SNP	C	C	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr12:53685569C>T	ENST00000257934.4	+	26	5707	c.5616C>T	c.(5614-5616)ctC>ctT	p.L1872L	ESPL1_ENST00000552462.1_Silent_p.L1872L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1872					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)	p.L1872L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CCCAGGAGCTCCTGAATGAGG	0.612																																					Colon(53;1069 1201 2587 5382)												1	Substitution - coding silent(1)	kidney(1)											132.0	123.0	126.0					12																	53685569		2203	4300	6503	SO:0001819	synonymous_variant	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.5616C>T	12.37:g.53685569C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000257934.4	37	CCDS8852.1																																																																																				0.612	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2		NM_012291	
FAM83B	222584	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	54735119	54735119	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr6:54735119G>C	ENST00000306858.7	+	2	191	c.75G>C	c.(73-75)aaG>aaC	p.K25N		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	25								p.K25N(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CTCACTACAAGGAATGGTATC	0.423																																																	1	Substitution - Missense(1)	kidney(1)											142.0	128.0	133.0					6																	54735119		2203	4300	6503	SO:0001583	missense	222584			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.75G>C	6.37:g.54735119G>C	ENSP00000304078:p.Lys25Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.975494	0.53720	.	.	ENSG00000168143	ENST00000306858	T	0.11063	2.81	5.08	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.10423	0.0255	N	0.26092	0.79	0.49051	D	0.99974	D	0.89917	1.0	D	0.83275	0.996	T	0.07966	-1.0745	10	0.46703	T	0.11	-29.8232	9.8932	0.41302	0.1563:0.0:0.8437:0.0	.	25	Q5T0W9	FA83B_HUMAN	N	25	ENSP00000304078:K25N	ENSP00000304078:K25N	K	+	3	2	FAM83B	54843078	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.459000	0.35234	1.273000	0.44346	0.467000	0.42956	AAG		0.423	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1		XM_294139	
FAT1	2195	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	187549319	187549319	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr4:187549319G>C	ENST00000441802.2	-	9	5008	c.4799C>G	c.(4798-4800)tCg>tGg	p.S1600W		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1600	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S1600W(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGACTCGATCGAGTACAGCAC	0.448										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												2	Substitution - Missense(2)	kidney(2)											38.0	40.0	39.0					4																	187549319		2028	4192	6220	SO:0001583	missense	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.4799C>G	4.37:g.187549319G>C	ENSP00000406229:p.Ser1600Trp	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.574685	0.65878	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.03212	4.01	5.49	5.49	0.81192	Cadherin (4);Cadherin-like (1);	0.102483	0.64402	D	0.000002	T	0.31606	0.0802	H	0.95917	3.74	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.44528	-0.9322	10	0.62326	D	0.03	.	19.5755	0.95441	0.0:0.0:1.0:0.0	.	1600	Q14517	FAT1_HUMAN	W	1600;1599	ENSP00000406229:S1600W	ENSP00000260147:S1599W	S	-	2	0	FAT1	187786313	1.000000	0.71417	0.855000	0.33649	0.676000	0.39594	5.902000	0.69869	2.865000	0.98341	0.655000	0.94253	TCG		0.448	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3		NM_005245	
FGD6	55785	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	95546724	95546724	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr12:95546724C>A	ENST00000343958.4	-	4	2855	c.2632G>T	c.(2632-2634)Gag>Tag	p.E878*	FGD6_ENST00000546711.1_Nonsense_Mutation_p.E878*|FGD6_ENST00000549499.1_Nonsense_Mutation_p.E878*	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	878	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.E878*(1)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CTCATGATCTCCTTGGCAATA	0.333																																																	1	Substitution - Nonsense(1)	kidney(1)											172.0	169.0	170.0					12																	95546724		2203	4300	6503	SO:0001587	stop_gained	55785			AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.2632G>T	12.37:g.95546724C>A	ENSP00000344446:p.Glu878*	Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Nonsense_Mutation	SNP	ENST00000343958.4	37	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	C	42	9.350047	0.99145	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	.	.	.	6.04	6.04	0.98038	.	0.000000	0.49305	D	0.000144	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-28.3216	20.5792	0.99380	0.0:1.0:0.0:0.0	.	.	.	.	X	878	.	ENSP00000344446:E878X	E	-	1	0	FGD6	94070855	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.273000	0.72581	2.873000	0.98535	0.561000	0.74099	GAG		0.333	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1		NM_018351	
FGF3	2248	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	69631129	69631129	+	Missense_Mutation	SNP	G	G	A	rs281860303		TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr11:69631129G>A	ENST00000334134.2	-	2	373	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	95					anatomical structure morphogenesis (GO:0009653)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cardiac muscle tissue development (GO:0055026)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|post-anal tail morphogenesis (GO:0036342)|semicircular canal morphogenesis (GO:0048752)|signal transduction (GO:0007165)|thymus development (GO:0048538)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	growth factor activity (GO:0008083)	p.R95W(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			GCCAGGTACCGCCCGGAGAAG	0.607																																																	1	Substitution - Missense(1)	kidney(1)											164.0	137.0	147.0					11																	69631129		2200	4294	6494	SO:0001583	missense	2248				CCDS8195.1	11q13	2010-06-25	2010-06-25		ENSG00000186895	ENSG00000186895			3681	protein-coding gene	gene with protein product	"""INT-2 proto-oncogene protein"", ""oncogene INT2"", ""V-INT2 murine mammary tumor virus integration site oncogene homolog"", ""murine mammary tumor virus integration site 2, mouse"""	164950	"""fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog)"""	INT2			Standard	NM_005247		Approved	HBGF-3	uc001oph.3	P11487	OTTHUMG00000167888	ENST00000334134.2:c.283C>T	11.37:g.69631129G>A	ENSP00000334122:p.Arg95Trp	Somatic		WXS	Illumina HiSeq	Phase_I	Q0VG69	Missense_Mutation	SNP	ENST00000334134.2	37	CCDS8195.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367914	0.61513	.	.	ENSG00000186895	ENST00000334134	T	0.69175	-0.38	4.83	3.9	0.45041	.	0.056028	0.64402	D	0.000001	T	0.81245	0.4782	M	0.86573	2.825	0.58432	D	0.99999	D	0.89917	1.0	D	0.97110	1.0	T	0.81385	-0.0957	9	.	.	.	.	8.2131	0.31494	0.0:0.1271:0.5573:0.3156	.	95	P11487	FGF3_HUMAN	W	95	ENSP00000334122:R95W	.	R	-	1	2	FGF3	69340066	1.000000	0.71417	0.908000	0.35775	0.997000	0.91878	3.455000	0.52993	1.004000	0.39156	0.555000	0.69702	CGG		0.607	FGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396835.1		NM_005247	
GON4L	54856	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	155747557	155747557	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr1:155747557C>A	ENST00000368331.1	-	15	1995	c.1947G>T	c.(1945-1947)gaG>gaT	p.E649D	GON4L_ENST00000361040.5_Missense_Mutation_p.E649D|GON4L_ENST00000437809.1_Missense_Mutation_p.E649D|GON4L_ENST00000271883.5_Missense_Mutation_p.E649D|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	649					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E649D(3)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GTTCAAATAGCTCCTTCACTG	0.443																																																	3	Substitution - Missense(3)	kidney(3)											147.0	128.0	135.0					1																	155747557		2203	4300	6503	SO:0001583	missense	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.1947G>T	1.37:g.155747557C>A	ENSP00000357315:p.Glu649Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37		.	.	.	.	.	.	.	.	.	.	C	20.9	4.072007	0.76415	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040;ENST00000368327	T;T;T;T	0.13657	2.76;2.76;2.76;2.57	5.34	3.47	0.39725	.	0.061949	0.64402	D	0.000005	T	0.13030	0.0316	L	0.41236	1.265	0.33437	D	0.58188	D;D;D;D;D	0.76494	0.991;0.999;0.999;0.998;0.999	P;D;D;D;D	0.81914	0.846;0.958;0.972;0.99;0.995	T	0.04333	-1.0959	10	0.40728	T	0.16	.	8.8714	0.35318	0.0:0.7705:0.0:0.2295	.	429;649;649;649;649	Q6PHZ4;A4PB68;Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;.;.;GON4L_HUMAN;.	D	649;649;649;649;649;128	ENSP00000396117:E649D;ENSP00000357315:E649D;ENSP00000271883:E649D;ENSP00000354322:E649D	ENSP00000271883:E649D	E	-	3	2	GON4L	154014181	0.943000	0.32029	0.998000	0.56505	0.981000	0.71138	-0.052000	0.11865	0.655000	0.30866	0.580000	0.79431	GAG		0.443	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_032292	
FMOD	2331	broad.mit.edu;ucsc.edu	37	1	203316461	203316461	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr1:203316461G>T	ENST00000354955.4	-	2	1401	c.938C>A	c.(937-939)aCc>aAc	p.T313N	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	313					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)		p.T313N(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CTCCAGGTTGGTGTTGACTGG	0.522																																																	1	Substitution - Missense(1)	kidney(1)											141.0	131.0	135.0					1																	203316461		2203	4300	6503	SO:0001583	missense	2331			U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3774	protein-coding gene	gene with protein product	"""fibromodulin proteoglycan"""	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.938C>A	1.37:g.203316461G>T	ENSP00000347041:p.Thr313Asn	Somatic		WXS	Illumina GAIIx	Phase_I	Q15331|Q8IV47	Missense_Mutation	SNP	ENST00000354955.4	37	CCDS30976.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629856	0.46944	.	.	ENSG00000122176	ENST00000435105;ENST00000354955	T	0.04970	3.52	5.27	4.35	0.52113	.	0.053102	0.64402	D	0.000001	T	0.11410	0.0278	N	0.20845	0.615	0.47276	D	0.999376	D	0.69078	0.997	D	0.65874	0.939	T	0.35226	-0.9797	10	0.21540	T	0.41	-5.1135	14.7297	0.69372	0.0:0.1455:0.8545:0.0	.	313	Q06828	FMOD_HUMAN	N	300;313	ENSP00000347041:T313N	ENSP00000347041:T313N	T	-	2	0	FMOD	201583084	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.313000	0.51935	1.210000	0.43336	0.655000	0.94253	ACC		0.522	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1		NM_002023	
GPC5	2262	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	92346002	92346002	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr13:92346002T>C	ENST00000377067.3	+	3	1259	c.887T>C	c.(886-888)aTc>aCc	p.I296T		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	296					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.I296T(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CATGCATATATCCGGTCGTTG	0.512																																																	1	Substitution - Missense(1)	kidney(1)											130.0	118.0	122.0					13																	92346002		2203	4300	6503	SO:0001583	missense	2262			AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.887T>C	13.37:g.92346002T>C	ENSP00000366267:p.Ile296Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	T	18.11	3.550348	0.65311	.	.	ENSG00000179399	ENST00000377067	T	0.59224	0.28	5.59	5.59	0.84812	.	0.051058	0.85682	D	0.000000	T	0.65523	0.2699	M	0.73598	2.24	0.45250	D	0.998256	B	0.33379	0.41	B	0.41174	0.349	T	0.69394	-0.5157	10	0.87932	D	0	-20.888	14.9507	0.71071	0.0:0.0:0.0:1.0	.	296	P78333	GPC5_HUMAN	T	296	ENSP00000366267:I296T	ENSP00000366267:I296T	I	+	2	0	GPC5	91144003	1.000000	0.71417	0.993000	0.49108	0.568000	0.35870	8.040000	0.89188	2.122000	0.65172	0.528000	0.53228	ATC		0.512	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1		NM_004466	
GPKOW	27238	broad.mit.edu;ucsc.edu	37	X	48979947	48979947	+	Silent	SNP	A	A	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chrX:48979947A>T	ENST00000156109.5	-	1	204	c.126T>A	c.(124-126)tcT>tcA	p.S42S		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	42						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.S42S(1)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						TCTCCTCCGGAGATGGCCCCG	0.637																																																	1	Substitution - coding silent(1)	kidney(1)											21.0	21.0	21.0					X																	48979947		2201	4298	6499	SO:0001819	synonymous_variant	27238			U66359	CCDS35251.1	Xp11.23	2013-01-28			ENSG00000068394	ENSG00000068394		"""G patch domain containing"""	30677	protein-coding gene	gene with protein product	"""G patch domain containing 5"""					21880142, 22365833	Standard	NM_015698		Approved	T54, GPATC5, GPATCH5, Spp2	uc004dmr.3	Q92917	OTTHUMG00000021511	ENST00000156109.5:c.126T>A	X.37:g.48979947A>T		Somatic		WXS	Illumina GAIIx	Phase_I	Q59EK5|Q9BQA8	Silent	SNP	ENST00000156109.5	37	CCDS35251.1																																																																																				0.637	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056535.2		NM_015698	
GPR62	118442	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	51990645	51990645	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr3:51990645T>A	ENST00000322241.4	+	1	1316	c.977T>A	c.(976-978)cTc>cAc	p.L326H		NM_080865.3	NP_543141.3	Q9BZJ7	GPR62_HUMAN	G protein-coupled receptor 62	326						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.L326H(1)		endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCGCGGGCACTCTTGCAATGC	0.706																																																	1	Substitution - Missense(1)	kidney(1)											13.0	17.0	16.0					3																	51990645		2187	4274	6461	SO:0001583	missense	118442			AF317653	CCDS2838.1	3p21.1	2012-08-21			ENSG00000180929	ENSG00000180929		"""GPCR / Class A : Orphans"""	13301	protein-coding gene	gene with protein product		606917				11165367	Standard	NM_080865		Approved		uc003dca.4	Q9BZJ7	OTTHUMG00000157367	ENST00000322241.4:c.977T>A	3.37:g.51990645T>A	ENSP00000319250:p.Leu326His	Somatic		WXS	Illumina HiSeq	Phase_I	F1DAM4|Q5KU27	Missense_Mutation	SNP	ENST00000322241.4	37	CCDS2838.1	.	.	.	.	.	.	.	.	.	.	T	16.06	3.016468	0.54468	.	.	ENSG00000180929	ENST00000322241	T	0.03635	3.86	4.98	4.98	0.66077	.	0.304822	0.17819	U	0.160925	T	0.05364	0.0142	L	0.29908	0.895	0.34722	D	0.728825	D	0.56287	0.975	P	0.49708	0.62	T	0.52764	-0.8532	10	0.20046	T	0.44	-32.8335	12.1802	0.54208	0.0:0.0:0.0:1.0	.	326	Q9BZJ7	GPR62_HUMAN	H	326	ENSP00000319250:L326H	ENSP00000319250:L326H	L	+	2	0	GPR62	51965685	0.966000	0.33281	0.012000	0.15200	0.278000	0.26855	3.817000	0.55668	1.862000	0.54008	0.459000	0.35465	CTC		0.706	GPR62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348611.1			
HCN4	10021	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	73616205	73616205	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr15:73616205C>A	ENST00000261917.3	-	8	3222	c.2229G>T	c.(2227-2229)caG>caT	p.Q743H		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	743					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.Q743H(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GCACAATCTGCTGGATGATCT	0.617																																																	1	Substitution - Missense(1)	kidney(1)											66.0	72.0	70.0					15																	73616205		2198	4297	6495	SO:0001583	missense	10021			AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.2229G>T	15.37:g.73616205C>A	ENSP00000261917:p.Gln743His	Somatic		WXS	Illumina HiSeq	Phase_I	Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.923447	0.33908	.	.	ENSG00000138622	ENST00000261917	T	0.80480	-1.38	3.46	2.5	0.30297	.	.	.	.	.	D	0.86879	0.6039	M	0.76328	2.33	0.44129	D	0.996918	D	0.76494	0.999	D	0.80764	0.994	D	0.86531	0.1822	9	0.59425	D	0.04	.	9.0434	0.36331	0.0:0.8161:0.0:0.1839	.	743	Q9Y3Q4	HCN4_HUMAN	H	743	ENSP00000261917:Q743H	ENSP00000261917:Q743H	Q	-	3	2	HCN4	71403258	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	3.343000	0.52167	1.761000	0.52028	0.313000	0.20887	CAG		0.617	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2		NM_005477	
HGD	3081	broad.mit.edu;hgsc.bcm.edu	37	3	120369637	120369637	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr3:120369637T>C	ENST00000283871.5	-	6	877	c.418A>G	c.(418-420)Acc>Gcc	p.T140A	HGD_ENST00000488183.1_5'Flank	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	140					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)	p.T140A(1)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		TCCATGGAGGTATTGCAGAGG	0.493																																																	1	Substitution - Missense(1)	kidney(1)											178.0	160.0	166.0					3																	120369637		2203	4296	6499	SO:0001583	missense	3081				CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"""homogentisate oxidase"""	607474	"""homogentisate 1,2-dioxygenase (homogentisate oxidase)"""	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.418A>G	3.37:g.120369637T>C	ENSP00000283871:p.Thr140Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A8K417|B2R8Z0	Missense_Mutation	SNP	ENST00000283871.5	37	CCDS3000.1	.	.	.	.	.	.	.	.	.	.	T	5.352	0.250323	0.10130	.	.	ENSG00000113924	ENST00000283871;ENST00000476082	D;D	0.98792	-5.14;-5.14	6.06	0.649	0.17806	Cupin, RmlC-type (1);	0.336851	0.33834	N	0.004511	D	0.90848	0.7125	N	0.03194	-0.395	0.29231	N	0.873256	B	0.02656	0.0	B	0.01281	0.0	D	0.84871	0.0825	10	0.06494	T	0.89	-10.0713	4.057	0.09821	0.2673:0.1492:0.0:0.5835	.	140	Q93099	HGD_HUMAN	A	140;99	ENSP00000283871:T140A;ENSP00000419560:T99A	ENSP00000283871:T140A	T	-	1	0	HGD	121852327	1.000000	0.71417	0.978000	0.43139	0.735000	0.41995	2.217000	0.42880	0.153000	0.19213	-0.297000	0.09499	ACC		0.493	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1			
HNRNPH1	3187	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	179050064	179050064	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr5:179050064G>A	ENST00000356731.5	-	1	1606	c.71C>T	c.(70-72)gCc>gTc	p.A24V	HNRNPH1_ENST00000510411.1_Missense_Mutation_p.A24V|HNRNPH1_ENST00000442819.2_Missense_Mutation_p.A24V|HNRNPH1_ENST00000524180.1_5'UTR|HNRNPH1_ENST00000393432.4_Missense_Mutation_p.A24V|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.A24V			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	24	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)	p.A24V(3)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						CACTTCATCGGCCGAGCAAGA	0.637																																																	3	Substitution - Missense(3)	kidney(3)											83.0	72.0	76.0					5																	179050064		2203	4300	6503	SO:0001583	missense	3187			BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"""RNA binding motif (RRM) containing"""	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.71C>T	5.37:g.179050064G>A	ENSP00000349168:p.Ala24Val	Somatic		WXS	Illumina HiSeq	Phase_I	B3KW86|D3DWQ2|Q6IBM4	Missense_Mutation	SNP	ENST00000356731.5	37	CCDS4446.1	.	.	.	.	.	.	.	.	.	.	g	6.515	0.463169	0.12402	.	.	ENSG00000169045	ENST00000393432;ENST00000442819;ENST00000356731;ENST00000329433;ENST00000510411;ENST00000503105;ENST00000508103;ENST00000506721;ENST00000523137;ENST00000505811;ENST00000510431;ENST00000519056;ENST00000504348;ENST00000513225;ENST00000515158;ENST00000521116;ENST00000515714;ENST00000503664;ENST00000522256	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;3.36;1.56;1.56;1.56;1.56;1.56	3.58	3.58	0.41010	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.261210	0.37906	N	0.001892	T	0.16257	0.0391	N	0.12443	0.215	0.58432	D	0.999995	B	0.09022	0.002	B	0.16722	0.016	T	0.07009	-1.0795	10	0.20519	T	0.43	-2.2153	10.5509	0.45087	0.0:0.0:0.8062:0.1938	.	24	P31943	HNRH1_HUMAN	V	24	ENSP00000377082:A24V;ENSP00000397797:A24V;ENSP00000349168:A24V;ENSP00000327539:A24V;ENSP00000426275:A24V;ENSP00000427408:A24V;ENSP00000425732:A24V;ENSP00000420850:A24V;ENSP00000427986:A24V;ENSP00000424087:A24V;ENSP00000423140:A24V;ENSP00000430970:A24V;ENSP00000427388:A24V;ENSP00000426518:A24V;ENSP00000421695:A24V;ENSP00000429661:A24V;ENSP00000425343:A24V;ENSP00000426726:A24V	ENSP00000327539:A24V	A	-	2	0	HNRNPH1	178982670	0.775000	0.28604	0.783000	0.31826	0.887000	0.51463	2.903000	0.48711	1.699000	0.51192	0.491000	0.48974	GCC		0.637	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253497.3		NM_005520	
HSP90B1	7184	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	104341195	104341195	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr12:104341195A>C	ENST00000299767.5	+	17	2551	c.2369A>C	c.(2368-2370)gAa>gCa	p.E790A	C12orf73_ENST00000543740.2_5'Flank	NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	790					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)	p.E790A(1)		central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	gatgaagaagaagaaACAGCA	0.418																																																	1	Substitution - Missense(1)	kidney(1)											222.0	226.0	225.0					12																	104341195		2203	4300	6503	SO:0001583	missense	7184			AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.2369A>C	12.37:g.104341195A>C	ENSP00000299767:p.Glu790Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q96A97	Missense_Mutation	SNP	ENST00000299767.5	37	CCDS9094.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.79|14.79	2.641172|2.641172	0.47153|0.47153	.|.	.|.	ENSG00000166598|ENSG00000166598	ENST00000299767;ENST00000421266|ENST00000550595	T|.	0.09630|.	2.96|.	4.76|4.76	3.61|3.61	0.41365|0.41365	.|.	1.212360|.	0.05821|.	N|.	0.615759|.	T|T	0.39572|0.39572	0.1083|0.1083	N|N	0.19112|0.19112	0.55|0.55	0.37603|0.37603	D|D	0.920635|0.920635	B|.	0.12630|.	0.006|.	B|.	0.12156|.	0.007|.	T|T	0.29761|0.29761	-1.0001|-1.0001	10|5	0.56958|.	D|.	0.05|.	.|.	8.7015|8.7015	0.34329|0.34329	0.9092:0.0:0.0908:0.0|0.9092:0.0:0.0908:0.0	.|.	790|.	P14625|.	ENPL_HUMAN|.	A|Q	790;540|141	ENSP00000299767:E790A|.	ENSP00000299767:E790A|.	E|K	+|+	2|1	0|0	HSP90B1|HSP90B1	102865325|102865325	0.132000|0.132000	0.22450|0.22450	0.954000|0.954000	0.39281|0.39281	0.965000|0.965000	0.64279|0.64279	2.870000|2.870000	0.48451|0.48451	0.923000|0.923000	0.37045|0.37045	0.533000|0.533000	0.62120|0.62120	GAA|AAG		0.418	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1		NM_003299	
IRF9	10379	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24633841	24633841	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr14:24633841C>G	ENST00000396864.3	+	7	955	c.668C>G	c.(667-669)aCc>aGc	p.T223S	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Missense_Mutation_p.T121S	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	223					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T223S(1)		NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		CTGCTGCTCACCTTCATCTAC	0.632																																																	1	Substitution - Missense(1)	kidney(1)											87.0	88.0	88.0					14																	24633841		2202	4300	6502	SO:0001583	missense	10379			M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"""interferon-stimulated transcription factor 3, gamma (48kD)"", ""interferon-stimulated transcription factor 3, gamma 48kDa"""	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.668C>G	14.37:g.24633841C>G	ENSP00000380073:p.Thr223Ser	Somatic		WXS	Illumina HiSeq	Phase_I	D3DS61	Missense_Mutation	SNP	ENST00000396864.3	37	CCDS9615.1	.	.	.	.	.	.	.	.	.	.	C	8.264	0.811907	0.16537	.	.	ENSG00000213928	ENST00000396864	T	0.80480	-1.38	5.32	5.32	0.75619	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.180634	0.36555	U	0.002527	T	0.81908	0.4922	L	0.37850	1.14	0.28479	N	0.915062	D	0.58970	0.984	P	0.62435	0.902	T	0.72587	-0.4248	10	0.16420	T	0.52	-21.8671	14.357	0.66745	0.0:1.0:0.0:0.0	.	223	Q00978	IRF9_HUMAN	S	223	ENSP00000380073:T223S	ENSP00000380073:T223S	T	+	2	0	IRF9	23703681	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.230000	0.32612	2.769000	0.95229	0.563000	0.77884	ACC		0.632	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071927.2			
ITGAL	3683	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	30505581	30505581	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr16:30505581C>T	ENST00000356798.6	+	12	1442	c.1262C>T	c.(1261-1263)gCc>gTc	p.A421V	ITGAL_ENST00000358164.5_Missense_Mutation_p.A338V|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000568012.1_3'UTR	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	421					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)	p.A421V(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	TCGTTGCTGGCCTCGGGAGCC	0.602																																					NSCLC(110;1462 1641 3311 33990 49495)												1	Substitution - Missense(1)	kidney(1)											54.0	56.0	56.0					16																	30505581		2197	4300	6497	SO:0001583	missense	3683				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.1262C>T	16.37:g.30505581C>T	ENSP00000349252:p.Ala421Val	Somatic		WXS	Illumina HiSeq	Phase_I	O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	C	6.211	0.407051	0.11754	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	T;T	0.13538	2.58;2.58	5.79	5.79	0.91817	.	0.222230	0.31909	N	0.006877	T	0.10809	0.0264	L	0.28504	0.86	0.80722	D	1	P;P	0.49185	0.92;0.64	B;B	0.43052	0.406;0.267	T	0.04065	-1.0980	10	0.02654	T	1	.	15.5362	0.76004	0.0:1.0:0.0:0.0	.	338;421	Q96HB1;P20701	.;ITAL_HUMAN	V	421;338	ENSP00000349252:A421V;ENSP00000350886:A338V	ENSP00000349252:A421V	A	+	2	0	ITGAL	30413082	0.779000	0.28652	0.965000	0.40720	0.042000	0.13812	1.207000	0.32333	2.740000	0.93945	0.563000	0.77884	GCC		0.602	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			
KBTBD8	84541	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	67058722	67058722	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr3:67058722G>C	ENST00000417314.2	+	4	1768	c.1719G>C	c.(1717-1719)gaG>gaC	p.E573D	KBTBD8_ENST00000295568.4_Missense_Mutation_p.E547D|KBTBD8_ENST00000460576.1_Missense_Mutation_p.E131D			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	573						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)		p.E573D(1)|p.E547D(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		AAGTGTATGAGACCCCAGATC	0.448																																																	2	Substitution - Missense(2)	kidney(2)											80.0	80.0	80.0					3																	67058722		2203	4300	6503	SO:0001583	missense	84541			AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"""BTB/POZ domain containing"""	30691	protein-coding gene	gene with protein product	"""T-cell activation kelch repeat protein"""					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.1719G>C	3.37:g.67058722G>C	ENSP00000401878:p.Glu573Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B4DTW6|Q96JI5	Missense_Mutation	SNP	ENST00000417314.2	37	CCDS2906.2	.	.	.	.	.	.	.	.	.	.	G	9.882	1.201980	0.22121	.	.	ENSG00000163376	ENST00000295568;ENST00000460576;ENST00000417314	T;T;T	0.67171	-0.25;-0.25;-0.25	5.37	2.6	0.31112	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.47284	0.1437	N	0.08118	0	0.46564	D	0.999104	P;P	0.49961	0.915;0.93	P;P	0.48627	0.522;0.584	T	0.29058	-1.0024	10	0.21540	T	0.41	.	7.8156	0.29258	0.3865:0.0:0.6135:0.0	.	131;573	B4DTW6;Q8NFY9	.;KBTB8_HUMAN	D	547;131;573	ENSP00000295568:E547D;ENSP00000419738:E131D;ENSP00000401878:E573D	ENSP00000295568:E547D	E	+	3	2	KBTBD8	67141412	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.503000	0.45407	0.646000	0.30693	0.650000	0.86243	GAG		0.448	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1		NM_032505	
KNG1	3827	hgsc.bcm.edu;ucsc.edu	37	3	186460113	186460114	+	Frame_Shift_Del	DEL	TT	TT	-	rs373927173		TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	TT	TT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr3:186460113_186460114delTT	ENST00000265023.4	+	10	2140_2141	c.1928_1929delTT	c.(1927-1929)cttfs	p.L643fs	RP11-573D15.8_ENST00000596329.1_RNA|RP11-573D15.8_ENST00000596632.1_RNA|RP11-573D15.8_ENST00000609652.1_RNA|RP11-573D15.8_ENST00000354642.2_RNA|RP11-573D15.8_ENST00000609726.1_RNA|KNG1_ENST00000287611.2_Intron|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Intron	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	643					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		ACTGATGGCCTTTCTTAATTTA	0.371																																																	0																																										SO:0001589	frameshift_variant	3827				CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"""Endogenous ligands"""	6383	protein-coding gene	gene with protein product	"""alpha-2-thiol proteinase inhibitor"", ""bradykinin"""	612358	"""kininogen"""	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.1928_1929delTT	3.37:g.186460113_186460114delTT	ENSP00000265023:p.Leu643fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Frame_Shift_Del	DEL	ENST00000265023.4	37	CCDS43183.1																																																																																				0.371	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1		NM_001102416	
LPPR4	9890	broad.mit.edu;ucsc.edu	37	1	99767414	99767414	+	Silent	SNP	T	T	C			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr1:99767414T>C	ENST00000370185.3	+	6	1424	c.927T>C	c.(925-927)taT>taC	p.Y309Y	LPPR4_ENST00000370184.1_Silent_p.Y151Y|LPPR4_ENST00000457765.1_Intron	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		309					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)	p.Y309Y(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TTGATGTCTATTGTGGCTTTT	0.358																																																	1	Substitution - coding silent(1)	kidney(1)											142.0	137.0	139.0					1																	99767414		2203	4300	6503	SO:0001819	synonymous_variant	9890																														ENST00000370185.3:c.927T>C	1.37:g.99767414T>C		Somatic		WXS	Illumina GAIIx	Phase_I	E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Silent	SNP	ENST00000370185.3	37	CCDS757.1																																																																																				0.358	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			
LRRCC1	85444	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	86022019	86022019	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr8:86022019G>T	ENST00000360375.3	+	2	443	c.294G>T	c.(292-294)ttG>ttT	p.L98F	LRRCC1_ENST00000414626.2_Missense_Mutation_p.L78F	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	98					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L98F(1)|p.L78F(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						CCTGCAATTTGATTACAAAAG	0.303																																																	2	Substitution - Missense(2)	kidney(2)											51.0	46.0	47.0					8																	86022019		1826	4076	5902	SO:0001583	missense	85444			BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.294G>T	8.37:g.86022019G>T	ENSP00000353538:p.Leu98Phe	Somatic		WXS	Illumina HiSeq	Phase_I	B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	G	8.166	0.790614	0.16258	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.09817	2.94;2.94	5.52	2.62	0.31277	.	0.000000	0.30676	N	0.009104	T	0.08133	0.0203	L	0.45228	1.405	0.41441	D	0.987926	B;B	0.33448	0.412;0.23	B;B	0.35353	0.148;0.201	T	0.16188	-1.0411	10	0.09843	T	0.71	-1.2889	7.0882	0.25270	0.2602:0.1224:0.6174:0.0	.	78;98	Q9C099-2;Q9C099	.;LRCC1_HUMAN	F	98;78	ENSP00000353538:L98F;ENSP00000394695:L78F	ENSP00000353538:L98F	L	+	3	2	LRRCC1	86209271	1.000000	0.71417	1.000000	0.80357	0.171000	0.22731	1.198000	0.32223	1.328000	0.45358	0.591000	0.81541	TTG		0.303	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1		NM_033402	
LRP12	29967	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	105503616	105503616	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr8:105503616G>A	ENST00000276654.5	-	7	1973	c.1865C>T	c.(1864-1866)tCa>tTa	p.S622L	LRP12_ENST00000424843.2_Missense_Mutation_p.S603L|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	622					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)	p.S622L(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TCCATCTGCTGAGACCAAAGC	0.438																																																	1	Substitution - Missense(1)	kidney(1)											74.0	72.0	73.0					8																	105503616		2203	4300	6503	SO:0001583	missense	29967			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1865C>T	8.37:g.105503616G>A	ENSP00000276654:p.Ser622Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	G	36	5.620357	0.96660	.	.	ENSG00000147650	ENST00000424843;ENST00000276654	D;D	0.84516	-1.86;-1.79	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.88596	0.6479	L	0.27053	0.805	0.80722	D	1	D;D	0.63880	0.989;0.993	D;D	0.75020	0.985;0.977	D	0.88012	0.2763	10	0.48119	T	0.1	-21.3852	20.5373	0.99239	0.0:0.0:1.0:0.0	.	603;622	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	L	603;622	ENSP00000399148:S603L;ENSP00000276654:S622L	ENSP00000276654:S622L	S	-	2	0	LRP12	105572792	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.145000	0.94634	2.857000	0.98124	0.650000	0.86243	TCA		0.438	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1		NM_013437	
MAGEB10	139422	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	27840420	27840420	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chrX:27840420G>A	ENST00000356790.2	+	3	1242	c.997G>A	c.(997-999)Ggt>Agt	p.G333S		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	333								p.G333S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						TGCCACAGCCGGTGCACGTTC	0.483																																																	1	Substitution - Missense(1)	kidney(1)											33.0	28.0	29.0					X																	27840420		2201	4295	6496	SO:0001583	missense	139422				CCDS35221.1	Xp21.3	2008-02-05			ENSG00000177689	ENSG00000177689			25377	protein-coding gene	gene with protein product		300761				11454705	Standard	NM_182506		Approved	FLJ32965	uc004dbw.3	Q96LZ2	OTTHUMG00000046084	ENST00000356790.2:c.997G>A	X.37:g.27840420G>A	ENSP00000368304:p.Gly333Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q494Y6|Q494Y7|Q9BZ78	Missense_Mutation	SNP	ENST00000356790.2	37	CCDS35221.1	.	.	.	.	.	.	.	.	.	.	G	0.024	-1.385230	0.01194	.	.	ENSG00000177689	ENST00000356790	T	0.01527	4.8	2.5	-1.47	0.08772	.	.	.	.	.	T	0.00580	0.0019	N	0.01168	-0.975	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.45116	-0.9283	9	0.02654	T	1	.	2.8991	0.05700	0.4147:0.2522:0.3331:0.0	.	333	Q96LZ2	MAGBA_HUMAN	S	333	ENSP00000368304:G333S	ENSP00000368304:G333S	G	+	1	0	MAGEB10	27750341	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.560000	0.05964	-0.458000	0.07023	-1.404000	0.01136	GGT		0.483	MAGEB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106216.1		NM_182506	
MAPK10	5602	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	87023072	87023072	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr4:87023072A>G	ENST00000359221.3	-	7	1065	c.539T>C	c.(538-540)cTc>cCc	p.L180P	MAPK10_ENST00000395169.3_Missense_Mutation_p.L142P|MAPK10_ENST00000361569.2_Missense_Mutation_p.L180P|MAPK10_ENST00000513839.1_5'Flank|MAPK10_ENST00000395160.3_Missense_Mutation_p.L35P|MAPK10_ENST00000395166.1_Missense_Mutation_p.L142P|MAPK10_ENST00000449047.2_Missense_Mutation_p.L35P|MAPK10_ENST00000395157.3_Missense_Mutation_p.L35P|MAPK10_ENST00000395161.2_Missense_Mutation_p.L180P			P53779	MK10_HUMAN	mitogen-activated protein kinase 10	180	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|signal transduction (GO:0007165)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|JUN kinase activity (GO:0004705)|MAP kinase kinase activity (GO:0004708)	p.L35P(1)|p.L180P(1)		breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		AGCAGAATGGAGGTGCTTAAT	0.383																																																	2	Substitution - Missense(2)	kidney(2)											200.0	188.0	192.0					4																	87023072		2203	4300	6503	SO:0001583	missense	5602			U07620	CCDS3612.1, CCDS3613.1, CCDS34026.1, CCDS43247.1	4q22-q23	2011-06-09			ENSG00000109339	ENSG00000109339	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6872	protein-coding gene	gene with protein product		602897		PRKM10		8654373, 12436199	Standard	NM_002753		Approved	JNK3, p493F12, p54bSAPK	uc003hpt.3	P53779	OTTHUMG00000130604	ENST00000359221.3:c.539T>C	4.37:g.87023072A>G	ENSP00000352157:p.Leu180Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A6NFS3|A6NG28|B3KQ94|Q15707|Q49AP1	Missense_Mutation	SNP	ENST00000359221.3	37	CCDS34026.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.739048	0.89573	.	.	ENSG00000109339	ENST00000395169;ENST00000359221;ENST00000395157;ENST00000361569;ENST00000395166;ENST00000395160;ENST00000449047;ENST00000395161	D;D;D;D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	5.94	5.94	0.96194	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96565	0.8879	H	0.96943	3.91	0.80722	D	1	D;D;D;D;D	0.89917	0.995;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.921;1.0;1.0;1.0;1.0	D	0.97864	1.0282	10	0.87932	D	0	-14.6937	16.4127	0.83723	1.0:0.0:0.0:0.0	.	66;35;142;180;180	B7Z1Z1;Q499Y8;P53779-3;P53779-2;P53779	.;.;.;.;MK10_HUMAN	P	142;180;35;180;142;35;35;180	ENSP00000378598:L142P;ENSP00000352157:L180P;ENSP00000378586:L35P;ENSP00000355297:L180P;ENSP00000378595:L142P;ENSP00000378589:L35P;ENSP00000414469:L35P;ENSP00000378590:L180P	ENSP00000352157:L180P	L	-	2	0	MAPK10	87242096	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	9.231000	0.95317	2.279000	0.76181	0.528000	0.53228	CTC		0.383	MAPK10-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361363.2			
MARCKS	4082	broad.mit.edu;hgsc.bcm.edu	37	6	114178975	114178975	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr6:114178975G>C	ENST00000368635.4	+	1	435	c.54G>C	c.(52-54)agG>agC	p.R18S		NM_002356.5	NP_002347.5	P29966	MARCS_HUMAN	myristoylated alanine-rich protein kinase C substrate	18					energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|germinal vesicle (GO:0042585)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|calmodulin binding (GO:0005516)	p.R18S(1)		breast(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		CCGCGGAGAGGCCTGGGGAGG	0.552																																																	1	Substitution - Missense(1)	kidney(1)											17.0	18.0	18.0					6																	114178975		2201	4297	6498	SO:0001583	missense	4082			M68956	CCDS5101.1	6q21	2014-04-10	2001-12-17	2001-12-20	ENSG00000155130	ENSG00000277443			6759	protein-coding gene	gene with protein product		177061	"""myristoylated alanine-rich protein kinase C substrate (MARCKS, 80K-L)"""	MACS		1560845, 8420923	Standard	NM_002356		Approved	PKCSL, 80K-L	uc003pvy.4	P29966	OTTHUMG00000188327	ENST00000368635.4:c.54G>C	6.37:g.114178975G>C	ENSP00000357624:p.Arg18Ser	Somatic		WXS	Illumina HiSeq	Phase_I	E1P560|Q2LA83|Q5TDB7	Missense_Mutation	SNP	ENST00000368635.4	37	CCDS5101.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.342609	0.41498	.	.	ENSG00000155130	ENST00000368635	T	0.36340	1.26	4.94	4.07	0.47477	.	0.125018	0.52532	D	0.000072	T	0.20659	0.0497	L	0.34521	1.04	0.32839	D	0.505167	P	0.34462	0.454	B	0.40940	0.344	T	0.10894	-1.0610	10	0.54805	T	0.06	.	12.9036	0.58139	0.1304:0.0:0.8696:0.0	.	18	P29966	MARCS_HUMAN	S	18	ENSP00000357624:R18S	ENSP00000357624:R18S	R	+	3	2	MARCKS	114285668	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.520000	0.35899	2.746000	0.94184	0.561000	0.74099	AGG		0.552	MARCKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041903.1		NM_002356	
MLYCD	23417	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	83949048	83949048	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr16:83949048A>G	ENST00000262430.4	+	5	1455	c.1436A>G	c.(1435-1437)cAg>cGg	p.Q479R	RP11-505K9.4_ENST00000561562.1_Intron|RP11-505K9.4_ENST00000566309.1_Intron	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	479	Catalytic domain.				acetyl-CoA biosynthetic process (GO:0006085)|cellular lipid metabolic process (GO:0044255)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA catabolic process (GO:2001294)|positive regulation of fatty acid oxidation (GO:0046321)|regulation of glucose metabolic process (GO:0010906)|response to ischemia (GO:0002931)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	malonyl-CoA decarboxylase activity (GO:0050080)|receptor binding (GO:0005102)	p.Q479R(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						GCCTCTGAGCAGGTCCTCAGC	0.557																																																	1	Substitution - Missense(1)	kidney(1)											27.0	29.0	29.0					16																	83949048		1953	4144	6097	SO:0001583	missense	23417			AF153679	CCDS42206.1	16q24	2009-02-04				ENSG00000103150			7150	protein-coding gene	gene with protein product		606761				10455107, 9869665	Standard	NM_012213		Approved	MCD, hMCD	uc002fgz.3	O95822		ENST00000262430.4:c.1436A>G	16.37:g.83949048A>G	ENSP00000262430:p.Gln479Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q9UNU5|Q9Y3F2	Missense_Mutation	SNP	ENST00000262430.4	37	CCDS42206.1	.	.	.	.	.	.	.	.	.	.	A	19.90	3.912205	0.72983	.	.	ENSG00000103150	ENST00000262430	D	0.94376	-3.41	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.95004	0.8383	M	0.71581	2.175	0.80722	D	1	D	0.63046	0.992	P	0.56434	0.798	D	0.95179	0.8297	10	0.59425	D	0.04	-46.6801	13.9448	0.64077	1.0:0.0:0.0:0.0	.	479	O95822	DCMC_HUMAN	R	479	ENSP00000262430:Q479R	ENSP00000262430:Q479R	Q	+	2	0	MLYCD	82506549	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.515000	0.67049	1.962000	0.57031	0.459000	0.35465	CAG		0.557	MLYCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433009.1		NM_012213	
MSH4	4438	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	76262748	76262748	+	Silent	SNP	T	T	C			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr1:76262748T>C	ENST00000263187.3	+	1	182	c.78T>C	c.(76-78)ccT>ccC	p.P26P		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	26					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)	p.P26P(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						CCCGCTCACCTCAGGGTCCCC	0.632								Mismatch excision repair (MMR)																																									1	Substitution - coding silent(1)	kidney(1)											32.0	34.0	33.0					1																	76262748		2203	4300	6503	SO:0001819	synonymous_variant	4438			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.78T>C	1.37:g.76262748T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q5T4U6|Q8NEB3|Q9UNP8	Silent	SNP	ENST00000263187.3	37	CCDS670.1																																																																																				0.632	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1		NM_002440	
NOL6	65083	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	33470170	33470170	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr9:33470170A>G	ENST00000379471.2	-	4	485	c.398T>C	c.(397-399)cTc>cCc	p.L133P	NOL6_ENST00000455041.2_Intron|NOL6_ENST00000464829.1_5'UTR			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	133					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.L133P(1)		endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CCCAGCTGGGAGCCATGCCTG	0.562																																																	1	Substitution - Missense(1)	kidney(1)											33.0	31.0	32.0					9																	33470170		2203	4299	6502	SO:0001583	missense	65083			AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.398T>C	9.37:g.33470170A>G	ENSP00000368784:p.Leu133Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	ENST00000379471.2	37		.	.	.	.	.	.	.	.	.	.	A	20.3	3.974266	0.74246	.	.	ENSG00000165271	ENST00000353159;ENST00000297990;ENST00000379471;ENST00000325914	T;T;T	0.48836	0.8;1.4;1.39	5.15	5.15	0.70609	.	0.128077	0.52532	D	0.000068	T	0.67887	0.2941	M	0.77103	2.36	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.996;0.996;0.992	T	0.67496	-0.5656	10	0.30078	T	0.28	.	14.64	0.68717	1.0:0.0:0.0:0.0	.	133;133;133;133	Q9H6R4-4;Q9H6R4-2;Q9H6R4-3;Q9H6R4	.;.;.;NOL6_HUMAN	P	133	ENSP00000313978:L133P;ENSP00000297990:L133P;ENSP00000368784:L133P	ENSP00000297990:L133P	L	-	2	0	NOL6	33460170	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.435000	0.90297	1.945000	0.56424	0.379000	0.24179	CTC		0.562	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2		NM_022917	
NRBP1	29959	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	27656879	27656879	+	Silent	SNP	T	T	C			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr2:27656879T>C	ENST00000233557.3	+	5	1189	c.357T>C	c.(355-357)gaT>gaC	p.D119D	NRBP1_ENST00000379852.3_Silent_p.D119D|NRBP1_ENST00000379863.3_Silent_p.D119D			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	119	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)	p.D119D(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CTGTGTTTGATAATCTGATTC	0.388																																																	1	Substitution - coding silent(1)	kidney(1)											260.0	273.0	269.0					2																	27656879		2203	4300	6503	SO:0001819	synonymous_variant	29959			AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"""nuclear receptor binding protein"""	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.357T>C	2.37:g.27656879T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B3KV40|D6W558|Q53FZ5|Q96SU3	Silent	SNP	ENST00000233557.3	37	CCDS1753.1																																																																																				0.388	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1		NM_013392	
NSMAF	8439	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	59506790	59506790	+	Splice_Site	SNP	C	C	G			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr8:59506790C>G	ENST00000038176.3	-	23	2164		c.e23+1		NSMAF_ENST00000427130.2_Splice_Site	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor						ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)	p.?(2)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				GGAACACTGACCTTGGGATGT	0.438																																																	2	Unknown(2)	kidney(2)											120.0	114.0	116.0					8																	59506790		2203	4300	6503	SO:0001630	splice_region_variant	8439			X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.1951+1G>C	8.37:g.59506790C>G		Somatic		WXS	Illumina HiSeq	Phase_I	B4DFB0|E9PCH0|Q8IW26	Splice_Site	SNP	ENST00000038176.3	37	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082894	0.36758	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1072	0.93301	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NSMAF	59669344	1.000000	0.71417	0.998000	0.56505	0.134000	0.20937	6.663000	0.74431	2.763000	0.94921	0.555000	0.69702	.		0.438	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1		NM_003580	Intron
ORAI1	84876	hgsc.bcm.edu	37	12	122064774	122064779	+	In_Frame_Del	DEL	CCGCCA	CCGCCA	-	rs141919534|rs531278468		TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	CCGCCA	CCGCCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr12:122064774_122064779delCCGCCA	ENST00000330079.7	+	1	320_325	c.127_132delCCGCCA	c.(127-132)ccgccadel	p.PP47del		NM_032790.3	NP_116179	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	0	Pro-rich.				blood coagulation (GO:0007596)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|regulation of calcium ion transport (GO:0051924)|store-operated calcium entry (GO:0002115)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|store-operated calcium channel activity (GO:0015279)	p.P43_P44delPP(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		cccgggggccccgccaccgccaccgc	0.748														5007	0.9998	1.0	1.0	5008	,	,		5795	1.0		1.0	False		,,,				2504	0.999																1	Deletion - In frame(1)	breast(1)																																								SO:0001651	inframe_deletion	84876			AK027372		12q24.31	2014-09-17	2007-08-14	2007-08-14	ENSG00000182500	ENSG00000276045		"""ORAI calcium release-activated calcium modulators"""	25896	protein-coding gene	gene with protein product	"""calcium release-activated calcium modulator 1"""	610277	"""transmembrane protein 142A"""	TMEM142A		16582901	Standard	NM_032790		Approved	FLJ14466, CRACM1	uc021rff.1	Q96D31		ENST00000330079.7:c.127_132delCCGCCA	12.37:g.122064780_122064785delCCGCCA	ENSP00000328216:p.Pro47_Pro48del	Somatic		WXS	Illumina HiSeq	Phase_I	Q3MHV3|Q6DHX2|Q96BP7|Q96K71	In_Frame_Del	DEL	ENST00000330079.7	37	CCDS41851.1																																																																																				0.748	ORAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402151.1		NM_032790	
SLC7A7	9056	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	23239464	23239464	+	IGR	SNP	C	C	G			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr14:23239464C>G	ENST00000397532.3	-	0	2447				OXA1L_ENST00000604262.1_Missense_Mutation_p.P216A|OXA1L_ENST00000285848.5_Missense_Mutation_p.P276A|OXA1L_ENST00000412791.1_Missense_Mutation_p.P216A|OXA1L_ENST00000358043.5_Missense_Mutation_p.P200A			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7						amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)	p.P276A(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		ACTCTATAAACCTCTCATTCT	0.423																																																	1	Substitution - Missense(1)	kidney(1)											75.0	71.0	72.0					14																	23239464		2203	4300	6503	SO:0001628	intergenic_variant	5018			AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"""Solute carriers"""	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692		14.37:g.23239464C>G		Somatic		WXS	Illumina HiSeq	Phase_I	B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Missense_Mutation	SNP	ENST00000397532.3	37	CCDS9574.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774653	0.31411	.	.	ENSG00000155463	ENST00000285848;ENST00000431881;ENST00000412791;ENST00000358043	T;T;T	0.29655	1.56;1.59;1.58	5.99	4.14	0.48551	.	0.099426	0.64402	D	0.000002	T	0.26412	0.0645	L	0.33668	1.02	0.36559	D	0.872281	P;B;P	0.49447	0.562;0.188;0.924	B;B;P	0.47251	0.266;0.229;0.542	T	0.17077	-1.0381	10	0.33940	T	0.23	-16.6951	8.37	0.32410	0.0:0.5968:0.3125:0.0907	.	216;216;276	E7EVY0;Q15070;Q2M1J6	.;OXA1L_HUMAN;.	A	276;85;216;200	ENSP00000285848:P276A;ENSP00000387601:P216A;ENSP00000350740:P200A	ENSP00000285848:P276A	P	+	1	0	OXA1L	22309304	0.997000	0.39634	0.956000	0.39512	0.756000	0.42949	3.172000	0.50832	1.545000	0.49373	-0.140000	0.14226	CCT		0.423	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3			
OTUB2	78990	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	94511094	94511094	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr14:94511094G>A	ENST00000203664.5	+	5	675	c.466G>A	c.(466-468)Gag>Aag	p.E156K		NM_023112.3	NP_075601.1	Q96DC9	OTUB2_HUMAN	OTU deubiquitinase, ubiquitin aldehyde binding 2	156	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular amino acid metabolic process (GO:0006520)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)	p.E156K(1)		kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5		all_cancers(154;0.12)		Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215)		CTTCATTGATGAGGAGATGGA	0.592																																																	1	Substitution - Missense(1)	kidney(1)											74.0	62.0	66.0					14																	94511094		2203	4300	6503	SO:0001583	missense	78990			AF318378	CCDS9917.1	14q32.13-q32.2	2014-02-24	2014-02-24	2004-05-28		ENSG00000089723		"""OTU domain containing"""	20351	protein-coding gene	gene with protein product		608338	"""chromosome 14 open reading frame 137"", ""OTU domain, ubiquitin aldehyde binding 2"""	C14orf137		12704427, 19996094	Standard	NM_023112		Approved	FLJ21916, MGC3102	uc001ych.4	Q96DC9		ENST00000203664.5:c.466G>A	14.37:g.94511094G>A	ENSP00000203664:p.Glu156Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IA10|Q9H6T1	Missense_Mutation	SNP	ENST00000203664.5	37	CCDS9917.1	.	.	.	.	.	.	.	.	.	.	G	32	5.160752	0.94727	.	.	ENSG00000089723	ENST00000203664	T	0.47869	0.83	5.45	5.45	0.79879	Ovarian tumour, otubain (1);	0.124834	0.53938	D	0.000054	T	0.50786	0.1636	L	0.41824	1.3	0.80722	D	1	P	0.52463	0.953	P	0.50659	0.647	T	0.46205	-0.9208	10	0.41790	T	0.15	-23.5162	16.7746	0.85548	0.0:0.0:1.0:0.0	.	156	Q96DC9	OTUB2_HUMAN	K	156	ENSP00000203664:E156K	ENSP00000203664:E156K	E	+	1	0	OTUB2	93580847	1.000000	0.71417	0.986000	0.45419	0.966000	0.64601	7.317000	0.79018	2.557000	0.86248	0.561000	0.74099	GAG		0.592	OTUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412855.1			
PAQR8	85315	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	52268836	52268836	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr6:52268836T>A	ENST00000442253.2	+	2	999	c.825T>A	c.(823-825)tgT>tgA	p.C275*	PAQR8_ENST00000360726.3_Nonsense_Mutation_p.C275*	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	275					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)	p.C275*(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					CGGGTTCCTGTGACATCGTGG	0.577																																																	1	Substitution - Nonsense(1)	kidney(1)											118.0	107.0	111.0					6																	52268836		2203	4300	6503	SO:0001587	stop_gained	85315			AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"""chromosome 6 open reading frame 33"""	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.825T>A	6.37:g.52268836T>A	ENSP00000406197:p.Cys275*	Somatic		WXS	Illumina HiSeq	Phase_I	B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Nonsense_Mutation	SNP	ENST00000442253.2	37	CCDS4941.1	.	.	.	.	.	.	.	.	.	.	T	29.6	5.023116	0.93462	.	.	ENSG00000170915	ENST00000442253;ENST00000360726	.	.	.	5.64	3.32	0.38043	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.8031	9.7946	0.40726	0.0:0.1253:0.0:0.8747	.	.	.	.	X	275	.	.	C	+	3	2	PAQR8	52376795	0.969000	0.33509	1.000000	0.80357	0.969000	0.65631	0.088000	0.14979	2.147000	0.66899	0.533000	0.62120	TGT		0.577	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2		NM_133367	
PBRM1	55193	broad.mit.edu;ucsc.edu	37	3	52678783	52678784	+	Frame_Shift_Ins	INS	-	-	T	rs369874660		TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr3:52678783_52678784insT	ENST00000296302.7	-	8	836_837	c.835_836insA	c.(835-837)atafs	p.I279fs	PBRM1_ENST00000394830.3_Frame_Shift_Ins_p.I279fs|PBRM1_ENST00000356770.4_Frame_Shift_Ins_p.I279fs|PBRM1_ENST00000409057.1_Frame_Shift_Ins_p.I279fs|PBRM1_ENST00000409767.1_Frame_Shift_Ins_p.I279fs|PBRM1_ENST00000410007.1_Frame_Shift_Ins_p.I279fs|PBRM1_ENST00000409114.3_Frame_Shift_Ins_p.I279fs|PBRM1_ENST00000337303.4_Frame_Shift_Ins_p.I279fs			Q86U86	PB1_HUMAN	polybromo 1	279					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.I279fs*4(7)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		Catataaaatatttttttaatt	0.361			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	7	Deletion - Frameshift(7)	kidney(7)																																								SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.836dupA	3.37:g.52678790_52678790dupT	ENSP00000296302:p.Ile279fs	Somatic		WXS	Illumina GAIIx	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Ins	INS	ENST00000296302.7	37																																																																																					0.361	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PLD1	5337	broad.mit.edu;hgsc.bcm.edu	37	3	171377081	171377081	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr3:171377081A>T	ENST00000351298.4	-	21	2477	c.2351T>A	c.(2350-2352)tTc>tAc	p.F784Y	PLD1_ENST00000356327.5_Missense_Mutation_p.F746Y|PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000340989.4_Missense_Mutation_p.F784Y	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	784	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.F784Y(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ACAGCTTATGAAAAACTGGTT	0.353																																					NSCLC(149;2174 3517 34058)												1	Substitution - Missense(1)	kidney(1)											128.0	129.0	129.0					3																	171377081		2203	4300	6503	SO:0001583	missense	5337			U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.2351T>A	3.37:g.171377081A>T	ENSP00000342793:p.Phe784Tyr	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000351298.4	37	CCDS3216.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	32|32	5.178458|5.178458	0.94846|0.94846	.|.	.|.	ENSG00000075651|ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000340989|ENST00000446289	T;T;T|.	0.30448|.	1.53;1.53;1.53|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87775|0.87775	0.6262|0.6262	H|H	0.96633|0.96633	3.855|3.855	0.80722|0.80722	D|D	1|1	D;D;D;P|.	0.63880|.	0.968;0.991;0.993;0.94|.	D;D;D;D|.	0.68621|.	0.931;0.931;0.959;0.931|.	D|D	0.91719|0.91719	0.5387|0.5387	10|5	0.72032|.	D|.	0.01|.	-20.3084|-20.3084	14.8791|14.8791	0.70519|0.70519	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	746;784;769;784|.	Q13393-2;Q13393-4;Q59EA4;Q13393|.	.;.;.;PLD1_HUMAN|.	Y|T	746;784;784|47	ENSP00000348681:F746Y;ENSP00000342793:F784Y;ENSP00000340326:F784Y|.	ENSP00000340326:F784Y|.	F|S	-|-	2|1	0|0	PLD1|PLD1	172859775|172859775	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.494000|8.494000	0.90477|0.90477	2.163000|2.163000	0.67991|0.67991	0.460000|0.460000	0.39030|0.39030	TTC|TCA		0.353	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2		NM_002662	
PNPLA6	10908	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	7614966	7614966	+	Silent	SNP	C	C	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr19:7614966C>T	ENST00000221249.6	+	17	2096	c.1665C>T	c.(1663-1665)acC>acT	p.T555T	PNPLA6_ENST00000450331.3_Silent_p.T555T|PNPLA6_ENST00000600737.1_Silent_p.T594T|PNPLA6_ENST00000414982.3_Silent_p.T603T|PNPLA6_ENST00000545201.2_Silent_p.T529T|PNPLA6_ENST00000594864.1_3'UTR	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	594					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)	p.T555T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GCGACTGCACCTTCCTGCGGA	0.622																																																	1	Substitution - coding silent(1)	kidney(1)											104.0	99.0	101.0					19																	7614966		2203	4300	6503	SO:0001819	synonymous_variant	10908			AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.1665C>T	19.37:g.7614966C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Silent	SNP	ENST00000221249.6	37	CCDS32891.1																																																																																				0.622	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1		NM_006702	
PPFIA4	8497	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	203024644	203024644	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr1:203024644delA	ENST00000447715.2	+	21	2289	c.1848delA	c.(1846-1848)ctafs	p.L616fs	PPFIA4_ENST00000295706.4_Frame_Shift_Del_p.L132fs|PPFIA4_ENST00000414050.2_Frame_Shift_Del_p.L345fs|PPFIA4_ENST00000367240.2_Frame_Shift_Del_p.L617fs|PPFIA4_ENST00000599966.1_Frame_Shift_Del_p.L132fs|PPFIA4_ENST00000272198.6_Frame_Shift_Del_p.L132fs			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	616					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						TGGAAGCCCTAAACCTGAAGC	0.622																																																	0													68.0	79.0	76.0					1																	203024644		2134	4239	6373	SO:0001589	frameshift_variant	8497			AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.1848delA	1.37:g.203024644delA	ENSP00000402576:p.Leu616fs	Somatic		WXS	Illumina HiSeq	Phase_I	A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Frame_Shift_Del	DEL	ENST00000447715.2	37																																																																																					0.622	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1		NM_015053	
PRNP	5621	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	4680528	4680528	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr20:4680528A>G	ENST00000379440.4	+	2	949	c.662A>G	c.(661-663)gAa>gGa	p.E221G	PRNP_ENST00000430350.2_Missense_Mutation_p.E221G	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	F7VJQ1	APRIO_HUMAN	prion protein	0						integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)		p.E221G(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						TACGAGAGGGAATCTCAGGCC	0.527																																																	1	Substitution - Missense(1)	kidney(1)											129.0	111.0	117.0					20																	4680528		2203	4300	6503	SO:0001583	missense	5621			M13899	CCDS13080.1	20p13	2014-06-05	2008-07-28		ENSG00000171867	ENSG00000171867		"""CD molecules"""	9449	protein-coding gene	gene with protein product	"""Creutzfeldt-Jakob disease"", ""Gerstmann-Strausler-Scheinker syndrome"", ""fatal familial insomnia"", ""p27-30"""	176640	"""prion protein (p27-30)"""	PRIP, GSS, CJD			Standard	NM_000311		Approved	CD230, PRP, AltPrP	uc002wkw.4	F7VJQ1	OTTHUMG00000031786	ENST00000379440.4:c.662A>G	20.37:g.4680528A>G	ENSP00000368752:p.Glu221Gly	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000379440.4	37	CCDS13080.1	.	.	.	.	.	.	.	.	.	.	A	7.376	0.627737	0.14257	.	.	ENSG00000171867	ENST00000379440;ENST00000430350;ENST00000424424;ENST00000444805	D;D;D	0.89343	-2.5;-2.5;-2.5	5.1	2.71	0.32032	Prion/Doppel protein, beta-ribbon domain (3);	0.366113	0.23007	N	0.053006	D	0.92028	0.7474	M	0.68317	2.08	0.09310	N	1	D;D	0.65815	0.981;0.995	P;D	0.68353	0.819;0.957	D	0.84419	0.0570	10	0.87932	D	0	-4.3625	8.9812	0.35966	0.6325:0.3675:0.0:0.0	.	221;253	P04156;O75942	PRIO_HUMAN;.	G	221;221;221;160	ENSP00000368752:E221G;ENSP00000399376:E221G;ENSP00000411599:E221G	ENSP00000368752:E221G	E	+	2	0	PRNP	4628528	0.440000	0.25618	0.002000	0.10522	0.040000	0.13550	2.315000	0.43752	0.356000	0.24157	0.533000	0.62120	GAA		0.527	PRNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077820.2		NM_000311	
PTPN18	26469	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	131116984	131116984	+	Silent	SNP	C	C	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr2:131116984C>T	ENST00000175756.5	+	4	395	c.294C>T	c.(292-294)agC>agT	p.S98S	PTPN18_ENST00000347849.3_Intron|PTPN18_ENST00000420717.1_3'UTR	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	98	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.S98S(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					TGGATGGAAGCCTGGCCTACA	0.617																																																	1	Substitution - coding silent(1)	kidney(1)											99.0	89.0	92.0					2																	131116984		2203	4300	6503	SO:0001819	synonymous_variant	26469			X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.294C>T	2.37:g.131116984C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B4E1E6|Q53P42	Silent	SNP	ENST00000175756.5	37	CCDS2161.1																																																																																				0.617	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2			
PXDNL	137902	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	52370154	52370154	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr8:52370154T>C	ENST00000356297.4	-	9	986	c.886A>G	c.(886-888)Aga>Gga	p.R296G	PXDNL_ENST00000543296.1_Missense_Mutation_p.R296G	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	296	Ig-like C2-type 1.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.R296G(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCTGACTCTCTGGTGTTTCGG	0.448																																																	1	Substitution - Missense(1)	kidney(1)											170.0	169.0	170.0					8																	52370154		1975	4163	6138	SO:0001583	missense	137902				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.886A>G	8.37:g.52370154T>C	ENSP00000348645:p.Arg296Gly	Somatic		WXS	Illumina HiSeq	Phase_I	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	T	9.103	1.004551	0.19199	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.67345	-0.26;-0.26	3.71	1.2	0.21068	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55940	0.1952	L	0.44542	1.39	0.21064	N	0.999791	B	0.33345	0.409	B	0.35770	0.21	T	0.41592	-0.9500	9	0.31617	T	0.26	.	8.0584	0.30619	0.0:0.0:0.4678:0.5322	.	296	A1KZ92	PXDNL_HUMAN	G	296	ENSP00000348645:R296G;ENSP00000444865:R296G	ENSP00000348645:R296G	R	-	1	2	PXDNL	52532707	0.007000	0.16637	0.012000	0.15200	0.722000	0.41435	0.174000	0.16743	0.025000	0.15241	0.454000	0.30748	AGA		0.448	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1		NM_144651	
RAB11FIP3	9727	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	476674	476674	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr16:476674G>T	ENST00000262305.4	+	1	1056	c.668G>T	c.(667-669)cGc>cTc	p.R223L	RAB11FIP3_ENST00000457159.1_Missense_Mutation_p.R223L	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	223	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytokinesis (GO:0000910)|endocytic recycling (GO:0032456)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|endosome (GO:0005768)|intercellular bridge (GO:0045171)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)	p.R223L(1)		breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				GGTTTCGTCCGCATCGAGGAC	0.711																																					Melanoma(160;2366 2595 4474 8099)												1	Substitution - Missense(1)	kidney(1)											27.0	36.0	33.0					16																	476674		2198	4298	6496	SO:0001583	missense	9727			AB014565	CCDS32351.1, CCDS45364.1	16p13.3	2013-01-10			ENSG00000090565	ENSG00000090565		"""EF-hand domain containing"""	17224	protein-coding gene	gene with protein product		608738				9734811, 11481332	Standard	NM_014700		Approved	KIAA0665, Rab11-FIP3, eferin	uc002chf.3	O75154	OTTHUMG00000047843	ENST00000262305.4:c.668G>T	16.37:g.476674G>T	ENSP00000262305:p.Arg223Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B0QYI8|B0QYT8|B1AHQ0|B4DEI7|B4DZR6|Q4VXV7|Q7Z5E9|Q9H155|Q9H1G0|Q9NUI0	Missense_Mutation	SNP	ENST00000262305.4	37	CCDS32351.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387123	0.82902	.	.	ENSG00000090565	ENST00000262305;ENST00000457159;ENST00000434585	T;T;T	0.71341	-0.56;-0.56;-0.56	3.32	2.35	0.29111	EF-hand-like domain (1);	.	.	.	.	T	0.71350	0.3329	M	0.66297	2.02	0.80722	D	1	P	0.47409	0.895	P	0.50162	0.633	T	0.69537	-0.5119	9	0.59425	D	0.04	.	6.347	0.21355	0.2396:0.0:0.7604:0.0	.	223	O75154	RFIP3_HUMAN	L	223;223;99	ENSP00000262305:R223L;ENSP00000398730:R223L;ENSP00000399644:R99L	ENSP00000262305:R223L	R	+	2	0	RAB11FIP3	416675	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	3.551000	0.53698	0.597000	0.29811	0.393000	0.25936	CGC		0.711	RAB11FIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109066.4		NM_014700	
RAB24	53917	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	176728925	176728925	+	Splice_Site	SNP	C	C	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr5:176728925C>T	ENST00000303251.6	-	7	967		c.e7+1		PRELID1_ENST00000503216.1_5'Flank|PRELID1_ENST00000303204.4_5'Flank|RAB24_ENST00000393611.2_Splice_Site|RAB24_ENST00000303270.6_Splice_Site	NM_001031677.2	NP_001026847.1	Q969Q5	RAB24_HUMAN	RAB24, member RAS oncogene family						autophagy (GO:0006914)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	autophagic vacuole (GO:0005776)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)	p.?(1)				all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAAGCACACACCTGTCATCAC	0.537																																																	1	Unknown(1)	kidney(1)											122.0	121.0	121.0					5																	176728925		2203	4300	6503	SO:0001630	splice_region_variant	53917			AF087904	CCDS34300.1	5q35.3	2009-10-06			ENSG00000169228	ENSG00000169228		"""RAB, member RAS oncogene"""	9765	protein-coding gene	gene with protein product		612415					Standard	NM_001031677		Approved		uc003mfw.3	Q969Q5	OTTHUMG00000130849	ENST00000303251.6:c.547+1G>A	5.37:g.176728925C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z4Z7	Splice_Site	SNP	ENST00000303251.6	37	CCDS34300.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743514	0.69418	.	.	ENSG00000169228	ENST00000393611;ENST00000303251;ENST00000303270	.	.	.	4.68	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7856	0.88536	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RAB24	176661531	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.920000	0.75799	2.432000	0.82394	0.561000	0.74099	.		0.537	RAB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253416.1		NM_130781	Intron
RAD51AP2	729475	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	17699551	17699551	+	Silent	SNP	G	G	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr2:17699551G>T	ENST00000399080.2	-	1	155	c.132C>A	c.(130-132)gtC>gtA	p.V44V		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	44								p.V44V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCGCCTTAAAGACACCTCCAG	0.572																																																	1	Substitution - coding silent(1)	kidney(1)											72.0	76.0	75.0					2																	17699551		1901	4114	6015	SO:0001819	synonymous_variant	729475			AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.132C>A	2.37:g.17699551G>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000399080.2	37	CCDS42656.1																																																																																				0.572	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3		NM_001099218	
RANBP17	64901	broad.mit.edu;hgsc.bcm.edu	37	5	170336745	170336745	+	Silent	SNP	G	G	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr5:170336745G>T	ENST00000523189.1	+	6	734	c.570G>T	c.(568-570)gtG>gtT	p.V190V		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	190					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)	p.V190V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ACGTTTTAGTGCTAGCATGCT	0.308			T	TRD@	ALL																																			Dom	yes		5	5q34	64901	RAN binding protein 17		L	1	Substitution - coding silent(1)	kidney(1)											75.0	72.0	73.0					5																	170336745		2202	4293	6495	SO:0001819	synonymous_variant	64901			AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.570G>T	5.37:g.170336745G>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q8IU74	Silent	SNP	ENST00000523189.1	37	CCDS34287.1																																																																																				0.308	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1		NM_022897	
RER1	11079	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	2333758	2333758	+	Missense_Mutation	SNP	A	A	G	rs367686071		TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr1:2333758A>G	ENST00000605895.1	+	6	611	c.478A>G	c.(478-480)Atc>Gtc	p.I160V	RER1_ENST00000488353.1_Missense_Mutation_p.I160V|RER1_ENST00000378518.1_3'UTR|RER1_ENST00000378513.3_3'UTR|RER1_ENST00000378512.1_3'UTR	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN	retention in endoplasmic reticulum sorting receptor 1	160				HAATKGILVAMVCTFFDAFNVPVFWPILVMYFIMLFCITMK RQIKHMIKYRYIPFTHGKRRYRGKEDAGKAFAS -> DASV CGDGRCSCKAGGGRQCPVLAADAALTFSPHLKACGYQGHPC GYGLYFLRRFQRPGVLADSGDVLHHALLYHDEEANQAHD (in Ref. 2; AAC72940). {ECO:0000305}.	positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)	cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of Golgi membrane (GO:0030173)		p.I160V(1)		endometrium(3)|kidney(1)	4	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		GCTCTTCTGTATCACGATGAA	0.552													A|||	1	0.000199681	0.0008	0.0	5008	,	,		18088	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)						A	VAL/ILE	1,4149		0,1,2074	132.0	133.0	133.0		478	5.2	1.0	1		133	0,8444		0,0,4222	no	missense	RER1	NM_007033.4	29	0,1,6296	GG,GA,AA		0.0,0.0241,0.0079	benign	160/197	2333758	1,12593	2075	4222	6297	SO:0001583	missense	11079			AF157324	CCDS41232.1	1p36	2013-10-18	2013-10-18		ENSG00000157916	ENSG00000157916			30309	protein-coding gene	gene with protein product			"""RER1 retention in endoplasmic reticulum 1 homolog (S. cerevisiae)"""			9309388, 17668005	Standard	NM_007033		Approved		uc001aje.2	O15258	OTTHUMG00000001403	ENST00000605895.1:c.478A>G	1.37:g.2333758A>G	ENSP00000475168:p.Ile160Val	Somatic		WXS	Illumina HiSeq	Phase_I	O95322	Missense_Mutation	SNP	ENST00000605895.1	37	CCDS41232.1	.	.	.	.	.	.	.	.	.	.	A	16.37	3.105521	0.56291	2.41E-4	0.0	ENSG00000157916	ENST00000306256;ENST00000434662	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.55924	0.1951	L	0.38733	1.17	0.80722	D	1	B	0.21225	0.053	B	0.28916	0.096	T	0.55780	-0.8087	9	0.54805	T	0.06	.	14.2383	0.65941	1.0:0.0:0.0:0.0	.	160	O15258	RER1_HUMAN	V	160	.	ENSP00000302088:I160V	I	+	1	0	RER1	2323618	1.000000	0.71417	0.999000	0.59377	0.755000	0.42902	8.127000	0.89593	1.979000	0.57680	0.383000	0.25322	ATC		0.552	RER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004061.2			
REXO2	25996	broad.mit.edu;hgsc.bcm.edu	37	11	114314631	114314631	+	Silent	SNP	T	T	C	rs199983925		TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr11:114314631T>C	ENST00000265881.5	+	3	428	c.285T>C	c.(283-285)gaT>gaC	p.D95D	REXO2_ENST00000539275.1_Intron|REXO2_ENST00000538791.1_5'Flank|REXO2_ENST00000539754.1_Silent_p.D95D|RP11-212D19.4_ENST00000544347.1_3'UTR	NM_015523.3	NP_056338.2	Q9Y3B8	ORN_HUMAN	RNA exonuclease 2	95	Exonuclease.				nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117)	focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)	p.D95D(1)		cervix(1)|endometrium(1)|kidney(1)|lung(1)	4		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494)		GCATGTCAGATTGGTGTAAGG	0.453																																																	1	Substitution - coding silent(1)	kidney(1)											120.0	96.0	104.0					11																	114314631		2201	4296	6497	SO:0001819	synonymous_variant	25996			AF151872	CCDS8371.1	11q23.2	2013-06-10	2013-06-10		ENSG00000076043	ENSG00000076043			17851	protein-coding gene	gene with protein product		607149	"""REX2, RNA exonuclease 2 homolog (S. cerevisiae)"""			10851236, 10810093, 23741365	Standard	NM_015523		Approved	DKFZP566E144, SFN, CGI-114	uc001poy.3	Q9Y3B8	OTTHUMG00000168271	ENST00000265881.5:c.285T>C	11.37:g.114314631T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	Silent	SNP	ENST00000265881.5	37	CCDS8371.1	.	.	.	.	.	.	.	.	.	.	T	8.574	0.880645	0.17467	.	.	ENSG00000076043	ENST00000544827	.	.	.	5.97	-4.5	0.03493	.	.	.	.	.	T	0.46483	0.1395	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46470	-0.9189	4	.	.	.	-13.774	4.8023	0.13303	0.1068:0.4704:0.1638:0.2589	.	.	.	.	T	55	.	.	I	+	2	0	REXO2	113819841	0.850000	0.29656	0.991000	0.47740	0.992000	0.81027	-0.127000	0.10547	-0.386000	0.07821	-0.290000	0.09829	ATT		0.453	REXO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399087.1		NM_015523	
RNF145	153830	hgsc.bcm.edu;ucsc.edu	37	5	158601127	158601128	+	Frame_Shift_Ins	INS	-	-	GGACATT			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr5:158601127_158601128insGGACATT	ENST00000424310.2	-	6	1019_1020	c.660_661insAATGTCC	c.(658-663)tccctgfs	p.L221fs	RNF145_ENST00000519865.1_Frame_Shift_Ins_p.L221fs|RNF145_ENST00000518802.1_Frame_Shift_Ins_p.L251fs|RNF145_ENST00000520638.1_Frame_Shift_Ins_p.L235fs|RNF145_ENST00000274542.2_Frame_Shift_Ins_p.L249fs|RNF145_ENST00000521606.2_Frame_Shift_Ins_p.L238fs	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	221						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGATTCCACAGGGACATTCCCA	0.411																																																	0																																										SO:0001589	frameshift_variant	153830			BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.654_660dupAATGTCC	5.37:g.158601128_158601134dupGGACATT	ENSP00000409064:p.Leu221fs	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z903|B7Z949|E7EVI7|Q8IVP7	Frame_Shift_Ins	INS	ENST00000424310.2	37	CCDS56390.1																																																																																				0.411	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1		NM_144726	
RPH3AL	9501	hgsc.bcm.edu;ucsc.edu	37	17	171101	171102	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr17:171101_171102insCT	ENST00000331302.7	-	4	489_490	c.182_183insAG	c.(181-183)aggfs	p.R61fs	RP11-1260E13.1_ENST00000570501.1_RNA|RPH3AL_ENST00000323434.8_Frame_Shift_Ins_p.R61fs|RPH3AL_ENST00000576001.1_5'Flank|RP11-1260E13.1_ENST00000572998.1_RNA|RPH3AL_ENST00000536489.2_Frame_Shift_Ins_p.R61fs	NM_001190411.1|NM_006987.3	NP_001177340.1|NP_008918.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	61	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of protein secretion (GO:0050714)|regulation of calcium ion-dependent exocytosis (GO:0017158)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|secretory granule membrane (GO:0030667)	cytoskeletal protein binding (GO:0008092)|metal ion binding (GO:0046872)			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		GCCGCTCTGCCCTCTGGATGAC	0.678																																																	0																																										SO:0001589	frameshift_variant	9501				CCDS10994.1, CCDS54059.1	17p13.3	2014-07-02			ENSG00000181031	ENSG00000181031		"""Synaptotagmins"""	10296	protein-coding gene	gene with protein product		604881				10395805	Standard	NM_006987		Approved	Noc2	uc021tmx.1	Q9UNE2	OTTHUMG00000090273	ENST00000331302.7:c.181_182dupAG	17.37:g.171104_171105dupCT	ENSP00000328977:p.Arg61fs	Somatic		WXS	Illumina HiSeq	Phase_I	D3DTG7|Q9BSB3	Frame_Shift_Ins	INS	ENST00000331302.7	37	CCDS10994.1																																																																																				0.678	RPH3AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206597.2		NM_006987	
SIPA1L1	26037	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	72055449	72055449	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr14:72055449A>T	ENST00000555818.1	+	2	1208	c.860A>T	c.(859-861)aAa>aTa	p.K287I	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.K287I|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.K287I	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	287					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)	p.K287I(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CGACGTTCAAAATCTGAAACT	0.423																																																	1	Substitution - Missense(1)	kidney(1)											68.0	72.0	71.0					14																	72055449		2203	4300	6503	SO:0001583	missense	26037			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.860A>T	14.37:g.72055449A>T	ENSP00000450832:p.Lys287Ile	Somatic		WXS	Illumina HiSeq	Phase_I	J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	A	15.18	2.757263	0.49468	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	T;T;T	0.47528	0.84;0.84;0.84	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.69106	0.3074	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	0.99;1.0;0.997	P;D;D	0.91635	0.728;0.999;0.916	T	0.72027	-0.4414	10	0.87932	D	0	-33.844	16.6406	0.85098	1.0:0.0:0.0:0.0	.	287;287;287	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	I	287	ENSP00000370630:K287I;ENSP00000450832:K287I;ENSP00000351352:K287I	ENSP00000351352:K287I	K	+	2	0	SIPA1L1	71125202	1.000000	0.71417	0.999000	0.59377	0.209000	0.24338	7.355000	0.79434	2.326000	0.78906	0.533000	0.62120	AAA		0.423	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1		NM_015556	
SERPINA12	145264	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	94964436	94964436	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr14:94964436T>A	ENST00000341228.2	-	3	1094	c.299A>T	c.(298-300)cAg>cTg	p.Q100L	SERPINA12_ENST00000556881.1_Missense_Mutation_p.Q100L	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	100					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q100L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GTTGAACCCCTGCTTGATCTC	0.527																																																	1	Substitution - Missense(1)	kidney(1)											98.0	99.0	99.0					14																	94964436		2203	4300	6503	SO:0001583	missense	145264			AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"""Serine (or cysteine) peptidase inhibitors"""	18359	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"""			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.299A>T	14.37:g.94964436T>A	ENSP00000342109:p.Gln100Leu	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000341228.2	37	CCDS9926.1	.	.	.	.	.	.	.	.	.	.	T	12.70	2.016973	0.35606	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.88354	-2.37;-2.37	5.59	4.45	0.53987	Serpin domain (3);	1.527140	0.03622	N	0.236555	D	0.88153	0.6360	M	0.62088	1.915	0.09310	N	1	B	0.31548	0.328	B	0.32762	0.152	T	0.73917	-0.3831	10	0.72032	D	0.01	.	5.4959	0.16802	0.0:0.1615:0.1488:0.6897	.	100	Q8IW75	SPA12_HUMAN	L	100	ENSP00000451738:Q100L;ENSP00000342109:Q100L	ENSP00000342109:Q100L	Q	-	2	0	SERPINA12	94034189	0.000000	0.05858	0.007000	0.13788	0.033000	0.12548	0.085000	0.14912	0.962000	0.38057	0.533000	0.62120	CAG		0.527	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1		NM_173850	
SGSH	6448	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	78196524	78196524	+	5'Flank	SNP	T	T	G			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr17:78196524T>G	ENST00000326317.6	-	0	0				SGSH_ENST00000534910.1_5'Flank|SGSH_ENST00000572208.1_5'Flank|SLC26A11_ENST00000361193.3_Missense_Mutation_p.L102R|SLC26A11_ENST00000411502.3_Missense_Mutation_p.L102R|SGSH_ENST00000570923.1_5'Flank|SLC26A11_ENST00000571602.1_3'UTR|SLC26A11_ENST00000572725.1_Missense_Mutation_p.L102R|SLC26A11_ENST00000546047.2_Missense_Mutation_p.L102R	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase						carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)	p.L102R(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GATGTGACTCTGGGCCCCACC	0.607																																																	1	Substitution - Missense(1)	kidney(1)											200.0	162.0	175.0					17																	78196524		2203	4300	6503	SO:0001631	upstream_gene_variant	284129			BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"""sulfamidase"", ""mucopolysaccharidosis type IIIA"""	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688			17.37:g.78196524T>G	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_I	A8K5E2	Missense_Mutation	SNP	ENST00000326317.6	37	CCDS11770.1	.	.	.	.	.	.	.	.	.	.	t	23.8	4.453853	0.84209	.	.	ENSG00000181045	ENST00000411502;ENST00000546047;ENST00000361193	D;D;D	0.92099	-2.97;-2.97;-2.97	4.52	4.52	0.55395	.	0.233301	0.36234	N	0.002718	D	0.96812	0.8959	M	0.93150	3.385	0.54753	D	0.999983	D	0.89917	1.0	D	0.79108	0.992	D	0.97698	1.0183	10	0.87932	D	0	-11.3387	13.5904	0.61957	0.0:0.0:0.0:1.0	.	102	Q86WA9	S2611_HUMAN	R	102	ENSP00000403998:L102R;ENSP00000440724:L102R;ENSP00000355384:L102R	ENSP00000355384:L102R	L	+	2	0	SLC26A11	75811119	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.725000	0.84808	1.706000	0.51276	0.373000	0.22412	CTG		0.607	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1		NM_000199	
SLCO4C1	353189	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	101597654	101597654	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr5:101597654A>G	ENST00000310954.6	-	5	1269	c.983T>C	c.(982-984)tTa>tCa	p.L328S		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1									p.L328S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AGGTATTATTAAAGACCAAGC	0.373																																																	1	Substitution - Missense(1)	kidney(1)											95.0	96.0	96.0					5																	101597654		2203	4300	6503	SO:0001583	missense	353189			AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.983T>C	5.37:g.101597654A>G	ENSP00000309741:p.Leu328Ser	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000310954.6	37	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.328443	0.81690	.	.	ENSG00000173930	ENST00000310954	D	0.82344	-1.6	5.82	5.82	0.92795	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.53938	D	0.000048	T	0.78123	0.4234	L	0.31752	0.955	0.35235	D	0.777314	B	0.25719	0.132	B	0.33254	0.16	T	0.79369	-0.1832	10	0.34782	T	0.22	.	16.1654	0.81750	1.0:0.0:0.0:0.0	.	328	Q6ZQN7	SO4C1_HUMAN	S	328	ENSP00000309741:L328S	ENSP00000309741:L328S	L	-	2	0	SLCO4C1	101625553	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.508000	0.73721	2.214000	0.71695	0.477000	0.44152	TTA		0.373	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1		NM_180991	
SNRPB	6628	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	2442418	2442418	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr20:2442418C>T	ENST00000438552.2	-	7	869	c.707G>A	c.(706-708)cGc>cAc	p.R236H	SNRPB_ENST00000381342.2_3'UTR|SNORD119_ENST00000515997.1_RNA	NM_198216.1	NP_937859.1	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	236	Repeat-rich region.				gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822)	p.R236H(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						CCTTGGTGGGCGCATTCCCGG	0.542																																																	1	Substitution - Missense(1)	kidney(1)											47.0	51.0	50.0					20																	2442418		2203	4300	6503	SO:0001583	missense	6628				CCDS13026.1, CCDS13027.1	20p13	2011-10-11			ENSG00000125835	ENSG00000125835			11153	protein-coding gene	gene with protein product		182282		SNRPB1		1376292	Standard	NM_003091		Approved	COD, SmB/SmB', Sm-B/B', snRNP-B	uc002wfz.1	P14678	OTTHUMG00000031694	ENST00000438552.2:c.707G>A	20.37:g.2442418C>T	ENSP00000412566:p.Arg236His	Somatic		WXS	Illumina HiSeq	Phase_I	Q15490|Q6IB35|Q9UIS5	Missense_Mutation	SNP	ENST00000438552.2	37	CCDS13026.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892568	0.33442	.	.	ENSG00000125835	ENST00000438552;ENST00000303103	T	0.44881	0.91	4.7	1.51	0.23008	.	0.298090	0.36338	N	0.002646	T	0.26195	0.0639	N	0.24115	0.695	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06534	-1.0821	10	0.87932	D	0	.	7.9054	0.29759	0.0:0.7006:0.0:0.2994	.	236	P14678	RSMB_HUMAN	H	236;284	ENSP00000412566:R236H	ENSP00000303591:R284H	R	-	2	0	SNRPB	2390418	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.285000	0.33261	0.234000	0.21139	0.561000	0.74099	CGC		0.542	SNRPB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077585.2			
SON	6651	hgsc.bcm.edu	37	21	34948697	34948697	+	Frame_Shift_Del	DEL	A	A	-	rs199930883|rs34373121		TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr21:34948697delA	ENST00000356577.4	+	12	7723	c.7248delA	c.(7246-7248)agafs	p.R2416fs	AP000304.1_ENST00000595468.1_5'Flank|DONSON_ENST00000303113.6_Intron|SON_ENST00000381692.2_Frame_Shift_Del_p.R444fs|SON_ENST00000470533.1_Intron|SON_ENST00000290239.6_3'UTR	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	2416	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.			ALTR -> SPYQ (in Ref. 2; AAK07692). {ECO:0000305}.	cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CCCTTACCAGACCCAATTGTA	0.363													-|A|-|insertion	5008	1.0	1.0	1.0	5008	,	,		14481	1.0		1.0	False		,,,				2504	1.0																0													9.0	10.0	10.0					21																	34948697		1712	3586	5298	SO:0001589	frameshift_variant	6651			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.7248delA	21.37:g.34948697delA	ENSP00000348984:p.Arg2416fs	Somatic		WXS	Illumina HiSeq	Phase_I	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Frame_Shift_Del	DEL	ENST00000356577.4	37	CCDS13629.1																																																																																				0.363	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2		NM_138927	
SPESP1	246777	hgsc.bcm.edu;ucsc.edu	37	15	69238350	69238350	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr15:69238350delA	ENST00000310673.3	+	2	631	c.477delA	c.(475-477)ccafs	p.P159fs	SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000448182.3_Intron|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000260364.5_Intron|RP11-809H16.2_ENST00000557966.1_RNA	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	159					acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						CTGAGGCACCAAGAATGTTGC	0.433																																																	0													96.0	96.0	96.0					15																	69238350		2200	4298	6498	SO:0001589	frameshift_variant	246777			AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484			15570	protein-coding gene	gene with protein product		609399				12773409	Standard	NM_145658		Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.477delA	15.37:g.69238350delA	ENSP00000312284:p.Pro159fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NG22|Q8WVH8	Frame_Shift_Del	DEL	ENST00000310673.3	37	CCDS10230.1																																																																																				0.433	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257125.1		NM_145658	
SPG21	51324	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	65273294	65273294	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr15:65273294G>T	ENST00000204566.2	-	3	428	c.133C>A	c.(133-135)Cct>Act	p.P45T	SPG21_ENST00000560564.1_5'UTR|SPG21_ENST00000559199.1_5'UTR|SPG21_ENST00000416889.2_Missense_Mutation_p.P45T|SPG21_ENST00000433215.2_Missense_Mutation_p.P45T	NM_016630.3	NP_057714.1	Q9NZD8	SPG21_HUMAN	spastic paraplegia 21 (autosomal recessive, Mast syndrome)	45					antigen receptor-mediated signaling pathway (GO:0050851)|cell death (GO:0008219)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network transport vesicle (GO:0030140)	CD4 receptor binding (GO:0042609)	p.P45T(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						AATATGAGAGGACACCTGATA	0.478																																																	1	Substitution - Missense(1)	kidney(1)											86.0	80.0	82.0					15																	65273294		2202	4299	6501	SO:0001583	missense	51324			AF208861	CCDS10198.1, CCDS45279.1	15q21-q22	2008-02-05	2007-04-23		ENSG00000090487	ENSG00000090487			20373	protein-coding gene	gene with protein product	"""maspardin"""	608181				11113139, 14564668	Standard	XM_006720564		Approved	ACP33, GL010, BM-019, MAST	uc002aoe.3	Q9NZD8	OTTHUMG00000133098	ENST00000204566.2:c.133C>A	15.37:g.65273294G>T	ENSP00000204566:p.Pro45Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B4DW44|Q6ZMB6	Missense_Mutation	SNP	ENST00000204566.2	37	CCDS10198.1	.	.	.	.	.	.	.	.	.	.	G	31	5.092918	0.94149	.	.	ENSG00000090487	ENST00000204566;ENST00000416889;ENST00000433215	T;T	0.33438	1.41;1.41	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.57286	0.2043	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.51180	-0.8738	10	0.32370	T	0.25	-9.0198	18.8037	0.92028	0.0:0.0:1.0:0.0	.	45;45	Q9NZD8-2;Q9NZD8	.;SPG21_HUMAN	T	45	ENSP00000204566:P45T;ENSP00000404111:P45T	ENSP00000204566:P45T	P	-	1	0	SPG21	63060347	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.767000	0.98960	2.682000	0.91365	0.650000	0.86243	CCT		0.478	SPG21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256758.3		NM_016630	
STAB2	55576	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	104056757	104056757	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr12:104056757C>A	ENST00000388887.2	+	18	2207	c.2003C>A	c.(2002-2004)aCa>aAa	p.T668K		NM_017564.9	NP_060034.9			stabilin 2									p.T668K(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGTGATGAAACAAAGAGAGAG	0.458																																																	1	Substitution - Missense(1)	kidney(1)											116.0	114.0	114.0					12																	104056757		2203	4300	6503	SO:0001583	missense	55576			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.2003C>A	12.37:g.104056757C>A	ENSP00000373539:p.Thr668Lys	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000388887.2	37	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	C	5.343	0.248596	0.10130	.	.	ENSG00000136011	ENST00000388887	T	0.62498	0.02	5.31	2.46	0.29980	.	0.342311	0.29822	N	0.011113	T	0.36552	0.0971	N	0.20685	0.6	0.09310	N	1	B	0.28713	0.22	B	0.30495	0.116	T	0.25882	-1.0119	10	0.06757	T	0.87	.	3.6469	0.08188	0.168:0.5712:0.1138:0.1469	.	668	Q8WWQ8	STAB2_HUMAN	K	668	ENSP00000373539:T668K	ENSP00000373539:T668K	T	+	2	0	STAB2	102580887	0.000000	0.05858	0.019000	0.16419	0.260000	0.26232	0.546000	0.23284	0.219000	0.20840	0.655000	0.94253	ACA		0.458	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			
SVEP1	79987	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	113170849	113170849	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr9:113170849A>T	ENST00000401783.2	-	38	7367	c.7031T>A	c.(7030-7032)gTt>gAt	p.V2344D	SVEP1_ENST00000297826.5_Missense_Mutation_p.V270D|SVEP1_ENST00000374469.1_Missense_Mutation_p.V2321D	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2344	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.V2347D(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AAATGTCACAACTCCTACCTC	0.488																																																	1	Substitution - Missense(1)	kidney(1)											56.0	55.0	55.0					9																	113170849		1901	4132	6033	SO:0001583	missense	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.7031T>A	9.37:g.113170849A>T	ENSP00000384917:p.Val2344Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	A	9.169	1.020780	0.19433	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826;ENST00000374463	T;T;T	0.66995	-0.24;-0.24;-0.24	5.62	4.47	0.54385	Complement control module (2);Sushi/SCR/CCP (3);	0.388539	0.29021	N	0.013395	T	0.76786	0.4036	M	0.88570	2.965	0.28791	N	0.89933	P	0.50819	0.939	P	0.52386	0.697	T	0.71951	-0.4437	10	0.20519	T	0.43	.	11.5904	0.50943	0.9301:0.0:0.0699:0.0	.	2344	Q4LDE5	SVEP1_HUMAN	D	2344;2321;270;16	ENSP00000384917:V2344D;ENSP00000363593:V2321D;ENSP00000297826:V270D	ENSP00000297826:V270D	V	-	2	0	SVEP1	112210670	0.989000	0.36119	0.349000	0.25694	0.013000	0.08279	4.945000	0.63568	0.955000	0.37878	0.533000	0.62120	GTT		0.488	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				
SYT16	83851	hgsc.bcm.edu;ucsc.edu	37	14	62462755	62462755	+	Silent	SNP	G	G	A	rs373261948		TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr14:62462755G>A	ENST00000430451.2	+	1	215	c.18G>A	c.(16-18)gcG>gcA	p.A6A	SYT16_ENST00000446982.2_Silent_p.A6A	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	6					exocytosis (GO:0006887)			p.A6A(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TGGCCATGGCGTCTCAGGATG	0.468																																																	2	Substitution - coding silent(2)	kidney(2)						G		0,3806		0,0,1903	70.0	68.0	69.0		18	-9.7	0.3	14		69	1,8249		0,1,4124	no	coding-synonymous	SYT16	NM_031914.2		0,1,6027	AA,AG,GG		0.0121,0.0,0.0083		6/646	62462755	1,12055	1903	4125	6028	SO:0001819	synonymous_variant	83851			BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.18G>A	14.37:g.62462755G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Silent	SNP	ENST00000430451.2	37	CCDS45121.1																																																																																				0.468	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1		NM_031914	
TAS2R42	353164	broad.mit.edu;hgsc.bcm.edu	37	12	11339532	11339532	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr12:11339532T>G	ENST00000334266.1	-	1	11	c.12A>C	c.(10-12)gaA>gaC	p.E4D		NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	4					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E4D(1)		breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			TTTTGTCCAATTCGGTGGCCA	0.368																																					Melanoma(15;352 722 10077 19546 48810)												1	Substitution - Missense(1)	kidney(1)											60.0	64.0	63.0					12																	11339532		2203	4298	6501	SO:0001583	missense	353164			AX097739, AB199241	CCDS31747.1	12p13	2012-08-22			ENSG00000186136	ENSG00000186136		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18888	protein-coding gene	gene with protein product		613966				12679530	Standard	NM_181429		Approved	T2R24, T2R55, hT2R55, TAS2R55	uc001qzr.1	Q7RTR8	OTTHUMG00000168567	ENST00000334266.1:c.12A>C	12.37:g.11339532T>G	ENSP00000334050:p.Glu4Asp	Somatic		WXS	Illumina HiSeq	Phase_I	A2RRP4|Q645X0	Missense_Mutation	SNP	ENST00000334266.1	37	CCDS31747.1	.	.	.	.	.	.	.	.	.	.	.	3.485	-0.105069	0.06967	.	.	ENSG00000186136	ENST00000334266	T	0.00768	5.72	3.2	-0.73	0.11154	.	2.013780	0.03492	U	0.216738	T	0.00875	0.0029	L	0.46157	1.445	0.09310	N	1	P	0.39216	0.664	B	0.38562	0.276	T	0.48234	-0.9053	10	0.12103	T	0.63	.	2.1613	0.03826	0.2831:0.2861:0.0:0.4308	.	4	Q7RTR8	T2R42_HUMAN	D	4	ENSP00000334050:E4D	ENSP00000334050:E4D	E	-	3	2	TAS2R42	11230799	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.742000	0.04850	0.002000	0.14630	0.460000	0.39030	GAA		0.368	TAS2R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400243.1		NM_181429	
TCOF1	6949	hgsc.bcm.edu;ucsc.edu	37	5	149771631	149771632	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr5:149771631_149771632insC	ENST00000504761.2	+	21	3409_3410	c.3409_3410insC	c.(3409-3411)accfs	p.T1137fs	TCOF1_ENST00000377797.3_Frame_Shift_Ins_p.T1137fs|TCOF1_ENST00000439160.2_Frame_Shift_Ins_p.T1099fs|TCOF1_ENST00000323668.7_Frame_Shift_Ins_p.T1060fs|TCOF1_ENST00000451292.1_Frame_Shift_Ins_p.T1174fs|TCOF1_ENST00000445265.2_Frame_Shift_Ins_p.T1060fs|TCOF1_ENST00000513346.1_Frame_Shift_Ins_p.T1136fs			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1137					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGCAGGCCACCAAAGCCCCT	0.589																																																	0																																										SO:0001589	frameshift_variant	6949				CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.3411dupC	5.37:g.149771633_149771633dupC	ENSP00000421655:p.Thr1137fs	Somatic		WXS	Illumina HiSeq	Phase_I	A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Frame_Shift_Ins	INS	ENST00000504761.2	37	CCDS54936.1																																																																																				0.589	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1		NM_001008656	
THAP9	79725	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	83838698	83838698	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr4:83838698G>A	ENST00000302236.5	+	5	1384	c.1333G>A	c.(1333-1335)Gtg>Atg	p.V445M	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	445					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)	p.V445M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				GCAGCACCTCGTGGAGTTAGT	0.353																																																	1	Substitution - Missense(1)	kidney(1)											61.0	64.0	63.0					4																	83838698		2203	4300	6503	SO:0001583	missense	79725			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.1333G>A	4.37:g.83838698G>A	ENSP00000305533:p.Val445Met	Somatic		WXS	Illumina HiSeq	Phase_I	B3KRE2|Q59AC9	Missense_Mutation	SNP	ENST00000302236.5	37	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.801250	0.31869	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.90844	-2.74	3.87	3.87	0.44632	.	0.157469	0.30011	N	0.010629	D	0.92506	0.7620	L	0.55990	1.75	0.80722	D	1	D	0.71674	0.998	P	0.61397	0.888	D	0.92147	0.5725	10	0.48119	T	0.1	-15.0565	14.1522	0.65392	0.0:0.0:1.0:0.0	.	445	Q9H5L6	THAP9_HUMAN	M	445	ENSP00000305533:V445M	ENSP00000305533:V445M	V	+	1	0	THAP9	84057722	1.000000	0.71417	0.993000	0.49108	0.022000	0.10575	4.068000	0.57534	2.450000	0.82876	0.655000	0.94253	GTG		0.353	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1		NM_024672	
TLL1	7092	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	166986847	166986847	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr4:166986847G>C	ENST00000061240.2	+	16	2667	c.2020G>C	c.(2020-2022)Gat>Cat	p.D674H	TLL1_ENST00000507499.1_Missense_Mutation_p.D697H	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	674	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D674H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TTGCAAATATGATTATGTGGA	0.373																																																	1	Substitution - Missense(1)	kidney(1)											113.0	113.0	113.0					4																	166986847		2203	4299	6502	SO:0001583	missense	7092			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.2020G>C	4.37:g.166986847G>C	ENSP00000061240:p.Asp674His	Somatic		WXS	Illumina HiSeq	Phase_I	B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.715821	0.89112	.	.	ENSG00000038295	ENST00000061240;ENST00000507499	T;T	0.35236	1.32;1.32	5.97	5.97	0.96955	CUB (5);	0.000000	0.85682	U	0.000000	T	0.79540	0.4463	H	0.99573	4.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87909	0.2696	10	0.87932	D	0	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	697;674	E9PD25;O43897	.;TLL1_HUMAN	H	674;697	ENSP00000061240:D674H;ENSP00000426082:D697H	ENSP00000061240:D674H	D	+	1	0	TLL1	167206297	1.000000	0.71417	0.981000	0.43875	0.813000	0.45954	9.813000	0.99286	2.836000	0.97738	0.655000	0.94253	GAT		0.373	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			
TM9SF2	9375	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	100207857	100207857	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr13:100207857T>A	ENST00000376387.4	+	15	1898	c.1708T>A	c.(1708-1710)Tct>Act	p.S570T		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	570					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)		p.S570T(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					TATTACCTGTTCTGAAGCAAC	0.338																																																	1	Substitution - Missense(1)	kidney(1)											255.0	218.0	231.0					13																	100207857		2202	4300	6502	SO:0001583	missense	9375			U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.1708T>A	13.37:g.100207857T>A	ENSP00000365567:p.Ser570Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A8K399|Q2TAY5	Missense_Mutation	SNP	ENST00000376387.4	37	CCDS9493.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.979375	0.74360	.	.	ENSG00000125304	ENST00000376387	T	0.46451	0.87	5.68	5.68	0.88126	.	0.047242	0.85682	D	0.000000	T	0.50240	0.1604	M	0.79343	2.45	0.80722	D	1	B;B	0.31153	0.31;0.18	B;B	0.34242	0.178;0.178	T	0.54906	-0.8223	10	0.72032	D	0.01	-36.7566	16.2164	0.82224	0.0:0.0:0.0:1.0	.	536;570	E9PHW5;Q99805	.;TM9S2_HUMAN	T	570	ENSP00000365567:S570T	ENSP00000365567:S570T	S	+	1	0	TM9SF2	99005858	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.948000	0.87774	2.289000	0.77006	0.533000	0.62120	TCT		0.338	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045602.3			
TMC5	79838	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	19475156	19475156	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr16:19475156A>G	ENST00000396229.2	+	8	2044	c.1295A>G	c.(1294-1296)cAg>cGg	p.Q432R	TMC5_ENST00000541464.1_Missense_Mutation_p.Q432R|TMC5_ENST00000561503.1_Missense_Mutation_p.Q73R|TMC5_ENST00000564959.1_Missense_Mutation_p.Q115R|TMC5_ENST00000381414.4_Missense_Mutation_p.Q432R|TMC5_ENST00000542583.2_Missense_Mutation_p.Q432R|TMC5_ENST00000219821.5_Missense_Mutation_p.Q186R	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	432					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.Q432R(1)|p.Q186R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AGCCTGTGGCAGAAGACGCTG	0.458																																																	2	Substitution - Missense(2)	kidney(2)											115.0	99.0	104.0					16																	19475156		2197	4300	6497	SO:0001583	missense	79838			AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.1295A>G	16.37:g.19475156A>G	ENSP00000379531:p.Gln432Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	A	16.49	3.136831	0.56936	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.68	5.68	0.88126	.	0.164710	0.56097	D	0.000027	T	0.48786	0.1519	N	0.21448	0.665	0.51482	D	0.999929	D;B;D;D;D;D	0.76494	0.999;0.057;0.999;0.998;0.998;0.999	D;B;D;D;D;D	0.71414	0.973;0.05;0.973;0.919;0.94;0.973	T	0.39354	-0.9618	10	0.21540	T	0.41	-19.8255	15.9365	0.79712	1.0:0.0:0.0:0.0	.	432;115;186;186;432;432	F5GYU8;E7EU57;Q6UXY8-3;B3KUQ8;Q6UXY8;Q6UXY8-2	.;.;.;.;TMC5_HUMAN;.	R	432;432;432;432;186;115	ENSP00000441227:Q432R;ENSP00000370822:Q432R;ENSP00000379531:Q432R;ENSP00000446274:Q432R;ENSP00000219821:Q186R	ENSP00000219821:Q186R	Q	+	2	0	TMC5	19382657	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	7.105000	0.77031	2.170000	0.68504	0.528000	0.53228	CAG		0.458	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1		NM_024780	
TMEM169	92691	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	216965265	216965265	+	Nonstop_Mutation	SNP	A	A	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr2:216965265A>T	ENST00000295658.4	+	3	1101	c.894A>T	c.(892-894)taA>taT	p.*298Y	TMEM169_ENST00000437356.2_Nonstop_Mutation_p.*298Y|TMEM169_ENST00000454545.1_Nonstop_Mutation_p.*298Y|TMEM169_ENST00000406027.2_Nonstop_Mutation_p.*298Y	NM_001142311.1|NM_001142312.1|NM_138390.3	NP_001135783.1|NP_001135784.1|NP_612399.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	0						integral component of membrane (GO:0016021)		p.*298Y(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCACGGTCTAAACTCCCAACA	0.453																																																	1	Nonstop extension(1)	kidney(1)											73.0	81.0	78.0					2																	216965265		2203	4300	6503	SO:0001578	stop_lost	92691			AK091582	CCDS2401.1	2q35	2008-02-05			ENSG00000163449	ENSG00000163449			25130	protein-coding gene	gene with protein product						12477932	Standard	NM_001142310		Approved	FLJ34263	uc002vfv.4	Q96HH4	OTTHUMG00000133053	ENST00000295658.4:c.894A>T	2.37:g.216965265A>T	ENSP00000295658:p.*298Tyrext*18	Somatic		WXS	Illumina HiSeq	Phase_I	B2R8W6	Missense_Mutation	SNP	ENST00000295658.4	37	CCDS2401.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.594170	0.46214	.	.	ENSG00000163449	ENST00000454545;ENST00000437356;ENST00000295658;ENST00000406027	.	.	.	5.08	2.72	0.32119	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1152	0.30940	0.832:0.0:0.168:0.0	.	.	.	.	Y	298	.	.	X	+	3	2	TMEM169	216673510	1.000000	0.71417	0.237000	0.24090	0.991000	0.79684	6.327000	0.72910	0.411000	0.25702	0.533000	0.62120	TAA		0.453	TMEM169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256666.2		NM_138390	
TNKS	8658	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	9588524	9588524	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr8:9588524A>C	ENST00000310430.6	+	14	2152	c.2126A>C	c.(2125-2127)gAt>gCt	p.D709A	TNKS_ENST00000518281.1_Missense_Mutation_p.D472A	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	709					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)	p.D709A(2)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CACGGTGCCGATGTCCATGCC	0.448																																																	2	Substitution - Missense(2)	kidney(2)											95.0	80.0	85.0					8																	9588524		2203	4300	6503	SO:0001583	missense	8658			AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.2126A>C	8.37:g.9588524A>C	ENSP00000311579:p.Asp709Ala	Somatic		WXS	Illumina HiSeq	Phase_I	O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	A	35	5.427349	0.96131	.	.	ENSG00000173273	ENST00000310430;ENST00000518281	T;T	0.70631	-0.5;-0.5	5.76	5.76	0.90799	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.82706	0.5095	M	0.87827	2.91	0.80722	D	1	P	0.52692	0.955	P	0.53988	0.739	D	0.85493	0.1186	10	0.56958	D	0.05	.	16.0796	0.80995	1.0:0.0:0.0:0.0	.	709	O95271	TNKS1_HUMAN	A	709;472	ENSP00000311579:D709A;ENSP00000429890:D472A	ENSP00000311579:D709A	D	+	2	0	TNKS	9625934	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.339000	0.96797	2.206000	0.71126	0.533000	0.62120	GAT		0.448	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1		NM_003747	
TOPBP1	11073	broad.mit.edu;hgsc.bcm.edu	37	3	133329915	133329915	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr3:133329915C>A	ENST00000260810.5	-	25	4237	c.4106G>T	c.(4105-4107)aGa>aTa	p.R1369I		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1369					cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)	p.R1282I(1)|p.R1369I(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						AAGTGCTAGTCTTCGTTGCTG	0.368								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)												2	Substitution - Missense(2)	kidney(2)											217.0	210.0	213.0					3																	133329915		1891	4110	6001	SO:0001583	missense	11073			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.4106G>T	3.37:g.133329915C>A	ENSP00000260810:p.Arg1369Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	37	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.753338	0.49362	.	.	ENSG00000163781	ENST00000260810	T	0.12147	2.71	5.27	-2.15	0.07102	BRCT (1);	0.321794	0.41605	D	0.000851	T	0.07638	0.0192	L	0.40543	1.245	0.53005	D	0.999966	B	0.20780	0.048	B	0.15870	0.014	T	0.39663	-0.9603	10	0.07644	T	0.81	.	7.7767	0.29041	0.1351:0.1501:0.0:0.7149	.	1369	Q92547	TOPB1_HUMAN	I	1369	ENSP00000260810:R1369I	ENSP00000260810:R1369I	R	-	2	0	TOPBP1	134812605	0.982000	0.34865	0.973000	0.42090	0.956000	0.61745	0.154000	0.16343	-0.283000	0.09115	-0.216000	0.12614	AGA		0.368	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1		NM_007027	
TPM2	7169	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	35684288	35684288	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr9:35684288C>T	ENST00000360958.2	-	8	831	c.727G>A	c.(727-729)Gag>Aag	p.E243K	TPM2_ENST00000329305.2_Missense_Mutation_p.E243K|TPM2_ENST00000378292.3_Missense_Mutation_p.E243K|TPM2_ENST00000378300.5_Missense_Mutation_p.E243K	NM_003289.3	NP_003280.2	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	243					muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)	cytosol (GO:0005829)|muscle thin filament tropomyosin (GO:0005862)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)	p.E243K(2)		NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACAGACCTCTCGGCAAACTCT	0.498																																																	2	Substitution - Missense(2)	kidney(2)											74.0	67.0	69.0					9																	35684288		2203	4300	6503	SO:0001583	missense	7169				CCDS6586.1, CCDS6587.1	9p13	2014-09-17	2003-12-02		ENSG00000198467	ENSG00000198467		"""Tropomyosins"""	12011	protein-coding gene	gene with protein product	"""nemaline myopathy type 4"""	190990	"""arthrogryposis multiplex congenital, distal, type 1"""	AMCD1		7606936	Standard	NM_003289		Approved	DA1, NEM4	uc003zxq.3	P07951	OTTHUMG00000019878	ENST00000360958.2:c.727G>A	9.37:g.35684288C>T	ENSP00000354219:p.Glu243Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A6NM85|P06468|Q13894|Q53FM4|Q5TCU4|Q5TCU7|Q9UH67	Missense_Mutation	SNP	ENST00000360958.2	37	CCDS6587.1	.	.	.	.	.	.	.	.	.	.	C	32	5.173758	0.94807	.	.	ENSG00000198467	ENST00000378300;ENST00000378292;ENST00000329305;ENST00000360958	D;D;D;D	0.99571	-6.19;-6.19;-6.19;-6.19	5.0	4.11	0.48088	.	.	.	.	.	D	0.99768	0.9905	H	0.98111	4.15	0.50467	D	0.999877	D;D;D;D	0.89917	0.998;0.973;1.0;1.0	D;P;D;D	0.91635	0.98;0.683;0.999;0.983	D	0.97172	0.9845	9	0.87932	D	0	-5.6404	12.8298	0.57740	0.0:0.921:0.0:0.079	.	243;243;243;243	A7XZE4;P07951;Q5TCU8;P07951-2	.;TPM2_HUMAN;.;.	K	243	ENSP00000367550:E243K;ENSP00000367542:E243K;ENSP00000367541:E243K;ENSP00000354219:E243K	ENSP00000367541:E243K	E	-	1	0	TPM2	35674288	1.000000	0.71417	0.872000	0.34217	0.976000	0.68499	7.606000	0.82863	1.321000	0.45227	0.563000	0.77884	GAG		0.498	TPM2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052376.1		NM_003289	
TRAPPC8	22878	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	29511372	29511372	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr18:29511372T>A	ENST00000283351.4	-	2	607	c.272A>T	c.(271-273)gAt>gTt	p.D91V	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.D37V|TRAPPC8_ENST00000582513.1_Missense_Mutation_p.D91V|TRAPPC8_ENST00000584876.1_5'UTR	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	91					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.D91V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGAAACAACATCATTCAAAAG	0.408																																																	1	Substitution - Missense(1)	kidney(1)											160.0	156.0	157.0					18																	29511372		2203	4300	6503	SO:0001583	missense	22878			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.272A>T	18.37:g.29511372T>A	ENSP00000283351:p.Asp91Val	Somatic		WXS	Illumina HiSeq	Phase_I	A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	T	14.75	2.628068	0.46944	.	.	ENSG00000153339	ENST00000283351	T	0.09350	2.99	5.98	5.98	0.97165	.	0.068910	0.64402	D	0.000009	T	0.18964	0.0455	L	0.46157	1.445	0.80722	D	1	P;P	0.52577	0.954;0.919	P;P	0.50754	0.649;0.536	T	0.00349	-1.1798	10	0.39692	T	0.17	.	16.4696	0.84102	0.0:0.0:0.0:1.0	.	91;91	Q6PCC9;Q9Y2L5	.;TPPC8_HUMAN	V	91	ENSP00000283351:D91V	ENSP00000283351:D91V	D	-	2	0	TRAPPC8	27765370	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.922000	0.75811	2.289000	0.77006	0.482000	0.46254	GAT		0.408	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1		NM_014939	
UBE2J1	51465	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	90039627	90039627	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr6:90039627G>T	ENST00000435041.2	-	8	1006	c.728C>A	c.(727-729)cCt>cAt	p.P243H		NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	243					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)	p.P243H(1)		NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		CTTAGCTACAGGTTGGGTAGG	0.473																																																	1	Substitution - Missense(1)	kidney(1)											114.0	114.0	114.0					6																	90039627		2203	4300	6503	SO:0001583	missense	51465			AJ245898	CCDS5021.1	6q15	2014-01-28	2012-06-08		ENSG00000198833	ENSG00000198833		"""Ubiquitin-conjugating enzymes E2"""	17598	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2, J1 (UBC6 homolog, yeast)"""			10708578	Standard	NM_016021		Approved	HSPC153, CGI-76, NCUBE1, UBC6	uc003pnc.3	Q9Y385	OTTHUMG00000016337	ENST00000435041.2:c.728C>A	6.37:g.90039627G>T	ENSP00000451261:p.Pro243His	Somatic		WXS	Illumina HiSeq	Phase_I	A8K3F9|Q53F25|Q5W0N4|Q9BZ32|Q9NQL3|Q9NY66|Q9P011|Q9P0S0|Q9UF10	Missense_Mutation	SNP	ENST00000435041.2	37	CCDS5021.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.568352	0.45798	.	.	ENSG00000198833	ENST00000435041;ENST00000536477	T	0.66460	-0.21	5.87	5.87	0.94306	.	0.544877	0.21343	N	0.076099	T	0.52964	0.1767	L	0.36672	1.1	0.28843	N	0.896506	P	0.51653	0.947	B	0.43916	0.436	T	0.56902	-0.7902	10	0.52906	T	0.07	-12.4154	20.5827	0.99408	0.0:0.0:1.0:0.0	.	243	Q9Y385	UB2J1_HUMAN	H	243;228	ENSP00000451261:P243H	ENSP00000354684:P243H	P	-	2	0	UBE2J1	90096346	0.987000	0.35691	0.520000	0.27837	0.682000	0.39822	5.403000	0.66338	2.941000	0.99782	0.655000	0.94253	CCT		0.473	UBE2J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043742.2		NM_016021	
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191469	10191469	+	Splice_Site	SNP	A	A	G	rs5030816		TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr3:10191469A>G	ENST00000256474.2	+	3	1303		c.e3-1		VHL_ENST00000477538.1_Splice_Site|VHL_ENST00000345392.2_Splice_Site	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase						cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.?(8)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TTGCCCTTCCAGTGTATACTC	0.498		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	8	Unknown(8)	kidney(7)|adrenal_gland(1)	GRCh37	CS941546|CS961704|CS961705	VHL	S	rs5030816						87.0	79.0	82.0					3																	10191469		2203	4300	6503	SO:0001630	splice_region_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.464-1A>G	3.37:g.10191469A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Splice_Site	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	A	13.14	2.147006	0.37923	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	.	.	.	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2441	0.54560	1.0:0.0:0.0:0.0	rs5030816	.	.	.	.	-1	.	.	.	+	.	.	VHL	10166469	1.000000	0.71417	0.996000	0.52242	0.357000	0.29423	6.694000	0.74587	2.052000	0.61016	0.533000	0.62120	.		0.498	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	Intron
ZFP90	146198	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	68598499	68598499	+	Silent	SNP	T	T	C			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr16:68598499T>C	ENST00000570495.1	+	5	2101	c.1809T>C	c.(1807-1809)caT>caC	p.H603H	ZFP90_ENST00000563169.2_Silent_p.H603H|ZFP90_ENST00000398253.2_Silent_p.H603H			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	603					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.H603H(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		AGAGAATTCATACTGGAGAAA	0.398																																																	1	Substitution - coding silent(1)	kidney(1)											99.0	111.0	107.0					16																	68598499		2138	4286	6424	SO:0001819	synonymous_variant	146198			AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"""Zinc fingers, C2H2-type"", ""-"""	23329	protein-coding gene	gene with protein product		609451	"""zinc finger protein 90 homolog (mouse)"""			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.1809T>C	16.37:g.68598499T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B2RU00|B3KVE7|Q49AD1|Q96MQ6	Silent	SNP	ENST00000570495.1	37	CCDS42183.1	.	.	.	.	.	.	.	.	.	.	T	11.50	1.658142	0.29425	.	.	ENSG00000184939	ENST00000327567	.	.	.	5.96	0.885	0.19188	.	.	.	.	.	T	0.32585	0.0834	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.05419	-1.0886	5	0.09338	T	0.73	-11.2196	5.3952	0.16265	0.0:0.3049:0.1408:0.5543	.	.	.	.	T	76	.	ENSP00000329859:I76T	I	+	2	0	ZFP90	67156000	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	0.449000	0.21744	0.141000	0.18875	0.454000	0.30748	ATA		0.398	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3		XM_085375	
ZNF185	7739	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	152132417	152132417	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chrX:152132417A>T	ENST00000370268.4	+	18	1676	c.1639A>T	c.(1639-1641)Act>Tct	p.T547S	ZNF185_ENST00000454925.1_Missense_Mutation_p.T185S|ZNF185_ENST00000324823.6_Missense_Mutation_p.T315S|ZNF185_ENST00000318529.8_Missense_Mutation_p.T326S|ZNF185_ENST00000535861.1_Missense_Mutation_p.T579S|ZNF185_ENST00000449285.2_Missense_Mutation_p.T548S|ZNF185_ENST00000539731.1_Missense_Mutation_p.T550S|ZNF185_ENST00000370270.2_Missense_Mutation_p.T579S|ZNF185_ENST00000318504.7_Missense_Mutation_p.T488S			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	547						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.T579S(1)|p.T310S(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					GGTCACTGTTACTGTCACTGC	0.537																																																	2	Substitution - Missense(2)	kidney(2)											93.0	89.0	90.0					X																	152132417		2072	4179	6251	SO:0001583	missense	7739			AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"""Zinc fingers, C2H2-type"""	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.1639A>T	X.37:g.152132417A>T	ENSP00000359291:p.Thr547Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Missense_Mutation	SNP	ENST00000370268.4	37	CCDS48184.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	9.666|9.666|9.666	1.145355|1.145355|1.145355	0.21288|0.21288|0.21288	.|.|.	.|.|.	ENSG00000147394|ENSG00000147394|ENSG00000147394	ENST00000454925|ENST00000535861;ENST00000539731;ENST00000449285;ENST00000318504;ENST00000535156;ENST00000324823;ENST00000370268;ENST00000318529;ENST00000370270|ENST00000426821	.|T;T;T;T;T|.	.|0.51071|.	.|0.74;0.72;0.75;0.74;0.75|.	3.66|3.66|3.66	2.46|2.46|2.46	0.29980|0.29980|0.29980	.|.|.	.|0.119972|.	.|0.36972|.	.|N|.	.|0.002301|.	T|T|T	0.42314|0.42314|0.42314	0.1197|0.1197|0.1197	L|L|L	0.58101|0.58101|0.58101	1.795|1.795|1.795	0.09310|0.09310|0.09310	N|N|N	1|1|1	.|B;B;D;B;B;B;B;D;B|.	.|0.56035|.	.|0.161;0.161;0.974;0.433;0.169;0.138;0.244;0.965;0.161|.	.|B;B;P;B;B;B;B;P;B|.	.|0.51487|.	.|0.075;0.075;0.671;0.172;0.075;0.055;0.061;0.555;0.075|.	T|T|T	0.29027|0.29027|0.29027	-1.0025|-1.0025|-1.0025	5|10|5	.|0.66056|.	.|D|.	.|0.02|.	-9.6154|-9.6154|-9.6154	6.263|6.263|6.263	0.20912|0.20912|0.20912	0.745:0.255:0.0:0.0|0.745:0.255:0.0:0.0|0.745:0.255:0.0:0.0	.|.|.	.|548;488;518;550;579;547;185;326;310|.	.|O15231-3;B8K2L9;B8K2M0;F5GZL4;F5GXF7;O15231;Q8N1R8;F8W8V7;O15231-2|.	.|.;.;.;.;.;ZN185_HUMAN;.;.;.|.	F|S|F	187|579;550;548;488;382;315;547;326;310|332	.|ENSP00000440847:T579S;ENSP00000444367:T550S;ENSP00000395228:T548S;ENSP00000312782:T488S;ENSP00000359291:T547S|.	.|ENSP00000312782:T488S|.	L|T|Y	+|+|+	3|1|2	2|0|0	ZNF185|ZNF185|ZNF185	151883073|151883073|151883073	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.005000|0.005000|0.005000	0.12908|0.12908|0.12908	0.029000|0.029000|0.029000	0.11900|0.11900|0.11900	0.009000|0.009000|0.009000	0.13219|0.13219|0.13219	0.575000|0.575000|0.575000	0.29434|0.29434|0.29434	0.417000|0.417000|0.417000	0.27973|0.27973|0.27973	TTA|ACT|TAC		0.537	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1		NM_007150	
ZNF595	152687	hgsc.bcm.edu	37	4	85995	85996	+	3'UTR	INS	-	-	A	rs61336127|rs397762835		TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr4:85995_85996insA	ENST00000339368.6	+	0	804_805							Q8IYB9	ZN595_HUMAN	zinc finger protein 595						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		AGAAACCCTACAATGTGAAAAA	0.401													AAA|AA|AAA|deletion	5008	1.0	1.0	1.0	5008	,	,		15241	1.0		1.0	False		,,,				2504	1.0																0										3875,15		1931,13,1						0.1	0.1		dbSNP_134	13	7943,47		3955,33,7	no	frameshift	ZNF595	NM_182524.2		5886,46,8	A1A1,A1R,RR		0.5882,0.3856,0.5219				11818,62				SO:0001624	3_prime_UTR_variant	152687			BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000339368.6:c.*802->A	4.37:g.85997_85997dupA		Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Ins	INS	ENST00000339368.6	37																																																																																					0.401	ZNF595-001	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000357814.2		NM_182524	
ZNF626	199777	hgsc.bcm.edu	37	19	20807177	20807178	+	Frame_Shift_Ins	INS	-	-	A	rs71174721|rs35575803	byFrequency	TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr19:20807177_20807178insA	ENST00000601440.1	-	4	1651_1652	c.1505_1506insT	c.(1504-1506)atcfs	p.I502fs	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	502					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TCTCCAGTATGATTCTCTCATG	0.391													aa|A|AA|deletion	3654	0.729633	0.4985	0.8386	5008	,	,		12106	0.7956		0.8708	False		,,,				2504	0.7515																0																																										SO:0001589	frameshift_variant	199777			BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1506dupT	19.37:g.20807178_20807178dupA	ENSP00000469958:p.Ile502fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N8T4|Q96QM1	Frame_Shift_Ins	INS	ENST00000601440.1	37	CCDS42535.1																																																																																				0.391	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2		NM_145297	
ZNF761	388561	hgsc.bcm.edu	37	19	53958187	53958187	+	RNA	DEL	A	A	-			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr19:53958187delA	ENST00000454407.1	+	0	879							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AGCTTGGATCAAGCTTTCATT	0.378																																																	0													112.0	112.0	112.0					19																	53958187		2203	4300	6503			388561			AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958187delA		Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZNB9	Frame_Shift_Del	DEL	ENST00000454407.1	37																																																																																					0.378	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript			NM_001008401	
ZNF786	136051	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	148769510	148769510	+	Silent	SNP	A	A	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr7:148769510A>T	ENST00000491431.1	-	4	418	c.354T>A	c.(352-354)ccT>ccA	p.P118P	ZNF786_ENST00000451334.3_Silent_p.P81P|ZNF786_ENST00000316286.9_Silent_p.P32P	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	118					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P117P(1)		breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ACTGGCTTTCAGGATCTAATT	0.493																																																	1	Substitution - coding silent(1)	kidney(1)											54.0	50.0	51.0					7																	148769510		1920	4123	6043	SO:0001819	synonymous_variant	136051			AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"""Zinc fingers, C2H2-type"", ""-"""	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.354T>A	7.37:g.148769510A>T		Somatic		WXS	Illumina HiSeq	Phase_I	A1A568|B4DMI1	Silent	SNP	ENST00000491431.1	37	CCDS47738.1																																																																																				0.493	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1		NM_152411	
ANKRD30BP2	149992	broad.mit.edu	37	21	14424153	14424153	+	IGR	SNP	C	C	A	rs10439727	byFrequency	TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr21:14424153C>A								RNU6-614P (4143 upstream) : AL050302.1 (317777 downstream)																							GAGGCTGCACCCTTGGCGGAA	0.443																																																	0																																										SO:0001628	intergenic_variant	0																															21.37:g.14424153C>A		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP		37																																																																																				0	0.443									
ESPL1	9700	broad.mit.edu	37	12	53670456	53670456	+	Silent	SNP	C	C	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr12:53670456C>T	ENST00000257934.4	+	8	1844	c.1753C>T	c.(1753-1755)Ctg>Ttg	p.L585L	ESPL1_ENST00000552462.1_Silent_p.L585L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	585					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)	p.L585L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GGCCCTCCTGCTGAGGGAGGA	0.637																																					Colon(53;1069 1201 2587 5382)												1	Substitution - coding silent(1)	kidney(1)											24.0	24.0	24.0					12																	53670456		2200	4297	6497	SO:0001819	synonymous_variant	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.1753C>T	12.37:g.53670456C>T		Somatic		WXS	Illumina GAIIx	Phase_I		Silent	SNP	ENST00000257934.4	37	CCDS8852.1																																																																																				0.637	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2		NM_012291	
KLK6	5653	broad.mit.edu	37	19	51462529	51462529	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr19:51462529C>T	ENST00000376851.3	-	6	1065	c.626G>A	c.(625-627)gGc>gAc	p.G209D	KLK6_ENST00000456750.2_Missense_Mutation_p.G102D|CTB-147C22.8_ENST00000594939.1_RNA|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000310157.2_Missense_Mutation_p.G209D|KLK6_ENST00000594641.1_Missense_Mutation_p.G209D|KLK6_ENST00000391808.1_Missense_Mutation_p.G102D|KLK6_ENST00000376853.4_Missense_Mutation_p.A81T	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	209	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.G209D(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)		TGACACAAGGCCTCGGAGGTG	0.517																																																	1	Substitution - Missense(1)	kidney(1)											240.0	219.0	226.0					19																	51462529		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.626G>A	19.37:g.51462529C>T	ENSP00000366047:p.Gly209Asp	Somatic		WXS	Illumina GAIIx	Phase_I	A6NJA1|A8MW09|Q6H301	Missense_Mutation	SNP	ENST00000376851.3	37	CCDS12811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	14.93|14.93	2.683170|2.683170	0.47991|0.47991	.|.	.|.	ENSG00000167755|ENSG00000167755	ENST00000376853|ENST00000310157;ENST00000376851;ENST00000391808;ENST00000456750	D|D;D;D;D	0.82526|0.99545	-1.62|-6.13;-6.13;-6.13;-6.13	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	0.99785|0.99785	0.9910|0.9910	H|H	0.98426|0.98426	4.23|4.23	0.80722|0.80722	D|D	1|1	P|D;D	0.42078|0.89917	0.77|1.0;1.0	B|D;D	0.42087|0.97110	0.375|1.0;1.0	D|D	0.96753|0.96753	0.9555|0.9555	9|9	0.59425|0.87932	D|D	0.04|0	.|.	13.7773|13.7773	0.63062|0.63062	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	81|209;102	E7ETY0|Q92876;Q92876-2	.|KLK6_HUMAN;.	T|D	81|209;209;102;102	ENSP00000366049:A81T|ENSP00000309148:G209D;ENSP00000366047:G209D;ENSP00000375684:G102D;ENSP00000409241:G102D	ENSP00000366049:A81T|ENSP00000309148:G209D	A|G	-|-	1|2	0|0	KLK6|KLK6	56154341|56154341	1.000000|1.000000	0.71417|0.71417	0.067000|0.067000	0.19924|0.19924	0.008000|0.008000	0.06430|0.06430	5.082000|5.082000	0.64450|0.64450	2.156000|2.156000	0.67533|0.67533	0.645000|0.645000	0.84053|0.84053	GCC|GGC		0.517	KLK6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465060.1		NM_002774	
Unknown	0	broad.mit.edu	37	5	99715528	99715528	+	IGR	SNP	C	C	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr5:99715528C>T								RNU6-1119P (226045 upstream) : RP11-346J10.1 (21616 downstream)																							AGCGGACAGTCGAAGCCCTTC	0.607																																																	0																																										SO:0001628	intergenic_variant	100133050																															5.37:g.99715528C>T		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP		37																																																																																				0	0.607									
Unknown	0	broad.mit.edu	37	9	66500841	66500841	+	IGR	SNP	C	C	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr9:66500841C>T								RP11-262H14.1 (31531 upstream) : RP11-262H14.7 (16364 downstream)																							CCACCTGGTGCCCAGGGCTCC	0.632																																																	0																																										SO:0001628	intergenic_variant	0																															9.37:g.66500841C>T		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP		37																																																																																				0	0.632									
RYR3	6263	broad.mit.edu	37	15	33962623	33962623	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr15:33962623T>G	ENST00000389232.4	+	38	5796	c.5726T>G	c.(5725-5727)gTt>gGt	p.V1909G	RYR3_ENST00000415757.3_Missense_Mutation_p.V1909G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1909	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.V1909G(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGCTAGGGGTTCCTTTggaa	0.473																																																	1	Substitution - Missense(1)	kidney(1)											29.0	34.0	33.0					15																	33962623		1904	4132	6036	SO:0001583	missense	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5726T>G	15.37:g.33962623T>G	ENSP00000373884:p.Val1909Gly	Somatic		WXS	Illumina GAIIx	Phase_I	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	T	15.07	2.722948	0.48728	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.68025	-0.3;-0.25	5.99	5.99	0.97316	.	0.238660	0.33610	N	0.004737	T	0.60418	0.2267	L	0.43923	1.385	0.58432	D	0.999993	B;B	0.29766	0.256;0.0	B;B	0.24848	0.056;0.0	T	0.61667	-0.7016	10	0.72032	D	0.01	.	15.6603	0.77182	0.0:0.0:0.0:1.0	.	1909;1909	Q15413-2;Q15413	.;RYR3_HUMAN	G	1909	ENSP00000373884:V1909G;ENSP00000399610:V1909G	ENSP00000354735:V1909G	V	+	2	0	RYR3	31749915	1.000000	0.71417	0.995000	0.50966	0.576000	0.36127	5.995000	0.70631	2.284000	0.76573	0.528000	0.53228	GTT		0.473	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			
SDK2	54549	broad.mit.edu	37	17	71429919	71429919	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr17:71429919C>A	ENST00000392650.3	-	10	1264	c.1264G>T	c.(1264-1266)Gca>Tca	p.A422S	SDK2_ENST00000388726.3_Missense_Mutation_p.A422S	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	422	Ig-like C2-type 5.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.A422S(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GTCTCACATGCTAGCACCACT	0.572																																																	1	Substitution - Missense(1)	kidney(1)											57.0	44.0	48.0					17																	71429919		2203	4300	6503	SO:0001583	missense	54549			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.1264G>T	17.37:g.71429919C>A	ENSP00000376421:p.Ala422Ser	Somatic		WXS	Illumina GAIIx	Phase_I	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	CCDS45769.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.800|4.800	0.148735|0.148735	0.09185|0.09185	.|.	.|.	ENSG00000069188|ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000316893|ENST00000416616	T;T|.	0.66099|.	-0.19;-0.19|.	4.8|4.8	4.8|4.8	0.61643|0.61643	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.341831|.	0.28901|.	N|.	0.013771|.	T|T	0.11495|0.11495	0.0280|0.0280	N|N	0.01424|0.01424	-0.875|-0.875	0.32991|0.32991	D|D	0.525016|0.525016	B;B|.	0.09022|.	0.002;0.001|.	B;B|.	0.15052|.	0.012;0.012|.	T|T	0.18116|0.18116	-1.0347|-1.0347	10|5	0.13108|.	T|.	0.6|.	.|.	4.2422|4.2422	0.10654|0.10654	0.1624:0.5943:0.157:0.0863|0.1624:0.5943:0.157:0.0863	.|.	422;422|.	Q58EX2-2;Q58EX2|.	.;SDK2_HUMAN|.	S|I	46;422;422;422|326	ENSP00000376421:A422S;ENSP00000373378:A422S|.	ENSP00000324967:A422S|.	A|S	-|-	1|2	0|0	SDK2|SDK2	68941514|68941514	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.964000|0.964000	0.63967|0.63967	2.598000|2.598000	0.46223|0.46223	2.375000|2.375000	0.81037|0.81037	0.462000|0.462000	0.41574|0.41574	GCA|AGC		0.572	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2		NM_019064	
TCF3	6929	broad.mit.edu	37	19	1625673	1625673	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr19:1625673C>T	ENST00000262965.5	-	7	745	c.401G>A	c.(400-402)aGc>aAc	p.S134N	TCF3_ENST00000395423.3_Missense_Mutation_p.S83N|TCF3_ENST00000588136.1_Missense_Mutation_p.S134N|TCF3_ENST00000344749.5_Missense_Mutation_p.S134N|TCF3_ENST00000453954.2_Missense_Mutation_p.S50N	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0	Pro-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.S134N(2)		breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		GGGCCCGGGGCTGTTGAGGGC	0.672			T	"""PBX1, HLF, TFPT"""	pre B-ALL																																			Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	2	Substitution - Missense(2)	kidney(2)											8.0	8.0	8.0					19																	1625673		2142	4259	6401	SO:0001583	missense	6929			M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"""Basic helix-loop-helix proteins"""	11633	protein-coding gene	gene with protein product	"""transcription factor E2-alpha"", ""immunoglobulin transcription factor 1"", ""kappa-E2-binding factor"", ""E2A immunoglobulin enhancer-binding factor E12/E47"", ""VDR interacting repressor"""	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.401G>A	19.37:g.1625673C>T	ENSP00000262965:p.Ser134Asn	Somatic		WXS	Illumina GAIIx	Phase_I	Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000262965.5	37	CCDS12074.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.387409	0.42308	.	.	ENSG00000071564	ENST00000262965;ENST00000344749;ENST00000453954;ENST00000395423	T;T;T	0.72835	-0.69;-0.69;-0.69	4.4	4.4	0.53042	.	0.104953	0.64402	D	0.000005	T	0.80347	0.4606	M	0.62088	1.915	0.47905	D	0.999541	D;D;B	0.76494	0.999;0.993;0.326	D;D;B	0.85130	0.997;0.968;0.113	T	0.78173	-0.2307	10	0.28530	T	0.3	-5.384	13.6992	0.62597	0.0:1.0:0.0:0.0	.	134;134;83	P15923-2;P15923;Q2TB39	.;TFE2_HUMAN;.	N	134;134;134;83	ENSP00000262965:S134N;ENSP00000344375:S134N;ENSP00000378813:S83N	ENSP00000262965:S134N	S	-	2	0	TCF3	1576673	1.000000	0.71417	1.000000	0.80357	0.143000	0.21401	1.735000	0.38176	1.976000	0.57569	0.561000	0.74099	AGC		0.672	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1		NM_003200	
Unknown	0	broad.mit.edu	37	9	88455022	88455022	+	IGR	SNP	G	G	A			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr9:88455022G>A								RP11-213G2.2 (48573 upstream) : NAA35 (101038 downstream)																							ACACAAGTCCGCCTATGTACT	0.398																																																	0																																										SO:0001628	intergenic_variant	0																															9.37:g.88455022G>A		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP		37																																																																																				0	0.398									
SPATA31C2	645961	broad.mit.edu	37	9	90746972	90746972	+	IGR	SNP	G	G	T			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr9:90746972G>T								U6 (133722 upstream) : U3 (242211 downstream)																							CTCCAGATGGGACAGGGGCTG	0.552																																																	0													127.0	113.0	117.0					9																	90746972		692	1590	2282	SO:0001628	intergenic_variant	0																															9.37:g.90746972G>T		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP		37																																																																																				0	0.552									
ZFR2	23217	broad.mit.edu	37	19	3831667	3831667	+	Missense_Mutation	SNP	C	C	T	rs200980853		TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr19:3831667C>T	ENST00000262961.4	-	4	599	c.589G>A	c.(589-591)Gcc>Acc	p.A197T	ZFR2_ENST00000591965.1_5'UTR	NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	197	Pro-rich.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.A197T(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		CCCGTGTAGGCGGTGCAGGTG	0.627																																																	1	Substitution - Missense(1)	kidney(1)						C	THR/ALA	0,4114		0,0,2057	17.0	19.0	18.0		589	-2.2	0.0	19		18	2,8378		0,2,4188	yes	missense	ZFR2	NM_015174.1	58	0,2,6245	TT,TC,CC		0.0239,0.0,0.016	benign	197/940	3831667	2,12492	2057	4190	6247	SO:0001583	missense	23217			AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"""KIAA1086"""	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.589G>A	19.37:g.3831667C>T	ENSP00000262961:p.Ala197Thr	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000262961.4	37	CCDS45921.1	.	.	.	.	.	.	.	.	.	.	C	0.081	-1.183484	0.01620	0.0	2.39E-4	ENSG00000105278	ENST00000262961;ENST00000438164	T;T	0.12672	3.39;2.66	3.18	-2.2	0.06994	.	1.444590	0.05194	U	0.503682	T	0.04679	0.0127	N	0.05078	-0.115	0.09310	N	1	B	0.18610	0.029	B	0.06405	0.002	T	0.33369	-0.9871	10	0.05620	T	0.96	0.1176	3.4887	0.07629	0.4221:0.2123:0.3656:0.0	.	197	Q9UPR6	ZFR2_HUMAN	T	197	ENSP00000262961:A197T;ENSP00000388974:A197T	ENSP00000262961:A197T	A	-	1	0	ZFR2	3782667	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.092000	0.11129	-0.179000	0.10654	-0.280000	0.10049	GCC		0.627	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453648.2		NM_015174	
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																																	10	Substitution - Missense(10)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)											117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu	Somatic		WXS	Illumina GAIIx	Phase_I	A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1		XM_001725708	
PIK3CA	5290	broad.mit.edu	37	3	178952077	178952077	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5713-01A-11D-1669-08	TCGA-B0-5713-11A-01D-1669-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM	.		Illumina GAIIx	2f35dbf4-3223-4550-951b-1409a30ece68	befd76b7-c750-45f1-b5fd-a132ad345ac2	g.chr3:178952077T>A	ENST00000263967.3	+	21	3289	c.3132T>A	c.(3130-3132)aaT>aaA	p.N1044K	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1044	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.N1044K(14)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AACAAATGAATGATGCACATC	0.368		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	.		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	14	Substitution - Missense(14)	endometrium(7)|breast(3)|kidney(2)|ovary(1)|large_intestine(1)											99.0	89.0	92.0					3																	178952077		1910	4124	6034	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3132T>A	3.37:g.178952077T>A	ENSP00000263967:p.Asn1044Lys	Somatic		WXS	Illumina GAIIx	Phase_I	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	T	16.09	3.023845	0.54683	.	.	ENSG00000121879	ENST00000263967	T	0.81078	-1.45	6.08	3.62	0.41486	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.72070	0.3415	N	0.17723	0.515	0.80722	D	1	D	0.54207	0.965	P	0.50082	0.63	T	0.67444	-0.5669	10	0.22706	T	0.39	-24.648	11.0342	0.47791	0.0:0.1289:0.0:0.8711	.	1044	P42336	PK3CA_HUMAN	K	1044	ENSP00000263967:N1044K	ENSP00000263967:N1044K	N	+	3	2	PIK3CA	180434771	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.521000	0.35910	1.088000	0.41272	0.482000	0.46254	AAT		0.368	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			
