#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
AGAP3	116988	broad.mit.edu;hgsc.bcm.edu	37	7	150784022	150784022	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr7:150784022A>C	ENST00000397238.2	+	1	194	c.194A>C	c.(193-195)aAc>aCc	p.N65T	AGAP3_ENST00000473312.1_Missense_Mutation_p.N65T|AGAP3_ENST00000479901.1_Missense_Mutation_p.N65T|AGAP3_ENST00000463381.1_Intron	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	29					cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)	p.N65T(2)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GCGCTCTCCAACTCCGCGGCC	0.731																																																	2	Substitution - Missense(2)	kidney(2)											21.0	25.0	24.0					7																	150784022		2134	4291	6425	SO:0001583	missense	116988			AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000397238.2:c.194A>C	7.37:g.150784022A>C	ENSP00000380413:p.Asn65Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000397238.2	37	CCDS43681.1	.	.	.	.	.	.	.	.	.	.	A	17.28	3.348526	0.61183	.	.	ENSG00000133612	ENST00000473312;ENST00000479901;ENST00000397238;ENST00000335355	D;D;T	0.88741	-2.25;-2.42;-0.52	2.42	2.42	0.29668	.	0.000000	0.52532	U	0.000067	D	0.82815	0.5119	L	0.43152	1.355	0.80722	D	1	P;P;P	0.45176	0.852;0.728;0.533	B;B;B	0.40285	0.243;0.325;0.205	T	0.82010	-0.0669	10	0.72032	D	0.01	.	8.329	0.32175	1.0:0.0:0.0:0.0	.	65;65;65	C9J975;Q96P47-4;E9PAL8	.;.;.	T	65;65;65;29	ENSP00000418921:N65T;ENSP00000418125:N65T;ENSP00000380413:N65T	ENSP00000334157:N29T	N	+	2	0	AGAP3	150414955	1.000000	0.71417	0.818000	0.32626	0.891000	0.51852	5.990000	0.70595	1.094000	0.41399	0.155000	0.16302	AAC		0.731	AGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351908.3		NM_031946	
B4GALNT4	338707	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	372684	372684	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr11:372684T>C	ENST00000329962.6	+	3	278	c.278T>C	c.(277-279)aTg>aCg	p.M93T		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	93					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)	p.M93T(1)		endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GACCTAGACATGCTGTTTCCT	0.612																																																	1	Substitution - Missense(1)	kidney(1)											20.0	23.0	22.0					11																	372684		2193	4283	6476	SO:0001583	missense	338707			AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.278T>C	11.37:g.372684T>C	ENSP00000328277:p.Met93Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q96LV2	Missense_Mutation	SNP	ENST00000329962.6	37	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	T	1.753	-0.488644	0.04352	.	.	ENSG00000182272	ENST00000329962	T	0.04360	3.64	3.17	-4.78	0.03209	.	1.811310	0.02866	N	0.130865	T	0.04048	0.0113	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41448	-0.9508	10	0.16420	T	0.52	-6.9736	2.719	0.05195	0.1308:0.4152:0.1327:0.3213	.	93	Q76KP1	B4GN4_HUMAN	T	93	ENSP00000328277:M93T	ENSP00000328277:M93T	M	+	2	0	B4GALNT4	362684	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-0.431000	0.06965	-0.816000	0.04340	0.391000	0.25812	ATG		0.612	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2		NM_178537	
BCL2A1	597	broad.mit.edu;hgsc.bcm.edu	37	15	80253472	80253472	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr15:80253472C>T	ENST00000267953.3	-	2	791	c.465G>A	c.(463-465)atG>atA	p.M155I	BCL2A1_ENST00000335661.6_3'UTR	NM_004049.3	NP_004040.1	Q16548	B2LA1_HUMAN	BCL2-related protein A1	155					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)	mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.M155I(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						CTAGAAAAGTCATCCAGCCAG	0.353																																																	1	Substitution - Missense(1)	kidney(1)											92.0	88.0	89.0					15																	80253472		2203	4300	6503	SO:0001583	missense	597				CCDS10312.1, CCDS45322.1	15q24.3	2014-05-20			ENSG00000140379	ENSG00000140379			991	protein-coding gene	gene with protein product		601056		HBPA1		8589678, 12771180	Standard	NM_004049		Approved	GRS, BFL1, BCL2L5, ACC-1, ACC-2	uc002bfc.4	Q16548	OTTHUMG00000144173	ENST00000267953.3:c.465G>A	15.37:g.80253472C>T	ENSP00000267953:p.Met155Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q6FGZ4|Q6FH19|Q86W13|Q99524	Missense_Mutation	SNP	ENST00000267953.3	37	CCDS10312.1	.	.	.	.	.	.	.	.	.	.	C	8.425	0.847383	0.17034	.	.	ENSG00000140379	ENST00000267953	T	0.16597	2.33	3.89	3.89	0.44902	.	.	.	.	.	T	0.10165	0.0249	N	0.14661	0.345	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.14924	-1.0455	9	0.25751	T	0.34	-15.5076	11.703	0.51581	0.0:1.0:0.0:0.0	.	155	Q16548	B2LA1_HUMAN	I	155	ENSP00000267953:M155I	ENSP00000267953:M155I	M	-	3	0	BCL2A1	78040527	0.988000	0.35896	0.997000	0.53966	0.647000	0.38526	2.189000	0.42621	1.880000	0.54463	0.555000	0.69702	ATG		0.353	BCL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291372.1		NM_004049	
BIVM	54841	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	103474191	103474191	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr13:103474191T>C	ENST00000257336.1	+	6	1479	c.800T>C	c.(799-801)cTt>cCt	p.L267P	BIVM-ERCC5_ENST00000602836.1_Silent_p.T238T|RNY5P8_ENST00000410369.1_RNA|BIVM_ENST00000448849.2_Missense_Mutation_p.L38P|BIVM_ENST00000419638.1_Missense_Mutation_p.L267P	NM_017693.3	NP_060163.2	Q86UB2	BIVM_HUMAN	basic, immunoglobulin-like variable motif containing	267						cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.L267P(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AATACAACACTTATGAGGTAT	0.383																																																	1	Substitution - Missense(1)	kidney(1)											93.0	91.0	92.0					13																	103474191		2203	4300	6503	SO:0001583	missense	54841			AF411385	CCDS9505.1, CCDS53879.1	13q33.1	2008-05-14			ENSG00000134897	ENSG00000134897			16034	protein-coding gene	gene with protein product						12036287	Standard	NM_017693		Approved	FLJ20159		Q86UB2	OTTHUMG00000017309	ENST00000257336.1:c.800T>C	13.37:g.103474191T>C	ENSP00000257336:p.Leu267Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q2M1J2|Q9NXM4	Missense_Mutation	SNP	ENST00000257336.1	37	CCDS9505.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.417719	0.83449	.	.	ENSG00000134897;ENSG00000134897;ENSG00000134897;ENSG00000134899	ENST00000257336;ENST00000448849;ENST00000419638;ENST00000418659	.	.	.	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000002	T	0.77745	0.4176	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.80379	-0.1407	9	0.87932	D	0	.	15.7373	0.77856	0.0:0.0:0.0:1.0	.	38;238;267	Q86UB2-2;Q59FZ7;Q86UB2	.;.;BIVM_HUMAN	P	267;38;267;238	.	ENSP00000257336:L267P	L	+	2	0	ERCC5;BIVM	102272192	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.623000	0.83113	2.184000	0.69523	0.454000	0.30748	CTT		0.383	BIVM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045704.2			
BIVM	54841	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	103474193	103474193	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr13:103474193A>T	ENST00000257336.1	+	6	1481	c.802A>T	c.(802-804)Atg>Ttg	p.M268L	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.Y239F|RNY5P8_ENST00000410369.1_RNA|BIVM_ENST00000448849.2_Missense_Mutation_p.M39L|BIVM_ENST00000419638.1_Missense_Mutation_p.M268L	NM_017693.3	NP_060163.2	Q86UB2	BIVM_HUMAN	basic, immunoglobulin-like variable motif containing	268						cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.M268L(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TACAACACTTATGAGGTATGA	0.388																																																	1	Substitution - Missense(1)	kidney(1)											90.0	88.0	88.0					13																	103474193		2203	4300	6503	SO:0001583	missense	54841			AF411385	CCDS9505.1, CCDS53879.1	13q33.1	2008-05-14			ENSG00000134897	ENSG00000134897			16034	protein-coding gene	gene with protein product						12036287	Standard	NM_017693		Approved	FLJ20159		Q86UB2	OTTHUMG00000017309	ENST00000257336.1:c.802A>T	13.37:g.103474193A>T	ENSP00000257336:p.Met268Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q2M1J2|Q9NXM4	Missense_Mutation	SNP	ENST00000257336.1	37	CCDS9505.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.571927	0.86542	.	.	ENSG00000134897;ENSG00000134897;ENSG00000134897;ENSG00000134899	ENST00000257336;ENST00000448849;ENST00000419638;ENST00000418659	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.76126	0.3944	M	0.61703	1.905	0.46458	D	0.999058	D;D;P	0.64830	0.977;0.994;0.91	D;D;D	0.70716	0.965;0.97;0.909	T	0.77175	-0.2684	9	0.51188	T	0.08	.	15.7373	0.77856	1.0:0.0:0.0:0.0	.	39;239;268	Q86UB2-2;Q59FZ7;Q86UB2	.;.;BIVM_HUMAN	L	268;39;268;239	.	ENSP00000257336:M268L	M	+	1	0	ERCC5;BIVM	102272194	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.871000	0.92346	2.184000	0.69523	0.454000	0.30748	ATG		0.388	BIVM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045704.2			
BSDC1	55108	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	32842063	32842063	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr1:32842063A>T	ENST00000455895.2	-	9	989	c.956T>A	c.(955-957)cTg>cAg	p.L319Q	BSDC1_ENST00000526031.1_Missense_Mutation_p.L224Q|BSDC1_ENST00000446293.2_Missense_Mutation_p.L336Q|BSDC1_ENST00000413080.1_Missense_Mutation_p.L258Q|BSDC1_ENST00000463967.1_5'Flank|BSDC1_ENST00000449308.1_Missense_Mutation_p.L319Q|BSDC1_ENST00000341071.7_Missense_Mutation_p.L336Q|BSDC1_ENST00000419121.2_Missense_Mutation_p.L263Q	NM_001143888.1|NM_018045.6	NP_001137360.1|NP_060515.3	Q9NW68	BSDC1_HUMAN	BSD domain containing 1	319								p.L336Q(2)		breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ATCCACAGCCAGGCCCTGTTC	0.642																																																	2	Substitution - Missense(2)	kidney(2)											91.0	84.0	87.0					1																	32842063		2203	4300	6503	SO:0001583	missense	55108			BX641056	CCDS363.2, CCDS44101.1, CCDS44102.1, CCDS44103.1, CCDS72752.1	1p35.1	2008-02-05			ENSG00000160058	ENSG00000160058			25501	protein-coding gene	gene with protein product						12477932	Standard	XM_005270985		Approved	FLJ10276, RP4-811H24.7	uc010ohg.2	Q9NW68	OTTHUMG00000007588	ENST00000455895.2:c.956T>A	1.37:g.32842063A>T	ENSP00000412173:p.Leu319Gln	Somatic		WXS	Illumina HiSeq	Phase_I	B4DMS7|B4DTI7|B4DTP7|B4E2X8|Q49AT8|Q68DY6|Q6IAA3|Q6MZK1|Q6UXS1|Q9HAL9	Missense_Mutation	SNP	ENST00000455895.2	37	CCDS363.2	.	.	.	.	.	.	.	.	.	.	A	0.417	-0.910067	0.02434	.	.	ENSG00000160058	ENST00000455895;ENST00000413080;ENST00000341071;ENST00000526031;ENST00000419121;ENST00000446293;ENST00000449308	.	.	.	4.87	-7.3	0.01446	.	1.220010	0.05520	N	0.561909	T	0.23688	0.0573	L	0.44542	1.39	0.09310	N	1	B;B;B;P;B	0.36753	0.284;0.135;0.284;0.568;0.083	B;B;B;B;B	0.35073	0.128;0.097;0.097;0.195;0.045	T	0.14727	-1.0462	9	0.14252	T	0.57	0.7124	8.5519	0.33458	0.1569:0.0:0.5578:0.2854	.	224;263;336;336;319	Q9NW68-9;Q9NW68-8;Q9NW68-7;Q9NW68-3;Q9NW68	.;.;.;.;BSDC1_HUMAN	Q	319;258;336;224;263;336;319	.	ENSP00000344816:L336Q	L	-	2	0	BSDC1	32614650	0.861000	0.29849	0.006000	0.13384	0.122000	0.20287	0.804000	0.27098	-1.397000	0.02068	-0.464000	0.05259	CTG		0.642	BSDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020056.3		NM_018045	
CATIP	375307	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	219232614	219232614	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr2:219232614T>G	ENST00000289388.3	+	10	1120	c.1091T>G	c.(1090-1092)tTg>tGg	p.L364W	AC021016.6_ENST00000441749.1_RNA|C2orf62_ENST00000481940.1_3'UTR	NM_198559.1	NP_940961.1	Q7Z7H3	CATIP_HUMAN		364					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L364W(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCACCGGCCTTGGGCTCCTCC	0.731																																																	1	Substitution - Missense(1)	kidney(1)											23.0	24.0	24.0					2																	219232614		2202	4294	6496	SO:0001583	missense	375307																														ENST00000289388.3:c.1091T>G	2.37:g.219232614T>G	ENSP00000289388:p.Leu364Trp	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000289388.3	37	CCDS2414.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.043348	0.75732	.	.	ENSG00000158428	ENST00000289388	.	.	.	4.71	4.71	0.59529	.	0.504604	0.17220	N	0.182345	T	0.60235	0.2253	L	0.54323	1.7	0.24838	N	0.992486	D	0.65815	0.995	P	0.60415	0.874	T	0.54754	-0.8246	9	0.59425	D	0.04	-4.6639	13.8528	0.63508	0.0:0.0:0.0:1.0	.	364	Q7Z7H3	CB062_HUMAN	W	364	.	ENSP00000289388:L364W	L	+	2	0	C2orf62	218940858	0.229000	0.23729	0.758000	0.31321	0.569000	0.35902	4.837000	0.62796	1.753000	0.51906	0.459000	0.35465	TTG		0.731	C2orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256771.1			
CAGE1	285782	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	7373597	7373597	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr6:7373597C>A	ENST00000512086.1	-	5	1657	c.1455G>T	c.(1453-1455)ttG>ttT	p.L485F	CAGE1_ENST00000509324.1_5'Flank|CAGE1_ENST00000296742.7_Missense_Mutation_p.L349F|CAGE1_ENST00000502583.1_Missense_Mutation_p.L485F|CAGE1_ENST00000338150.4_Missense_Mutation_p.L485F|CAGE1_ENST00000379918.4_Missense_Mutation_p.L485F			Q8TC20	CAGE1_HUMAN	cancer antigen 1	485								p.L485F(2)|p.L349F(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					CCTGTAAAGACAAGAACTCTT	0.388																																																	3	Substitution - Missense(3)	kidney(3)											59.0	51.0	53.0					6																	7373597		1803	4073	5876	SO:0001583	missense	285782			BC026194	CCDS47367.1, CCDS54964.1, CCDS54965.1	6p24.3	2009-08-06	2005-01-26	2005-01-27	ENSG00000164304	ENSG00000164304			21622	protein-coding gene	gene with protein product	"""cancer/testis antigen 95"""	608304	"""cancer/testis antigen 3"""	CTAG3		12531476	Standard	NM_205864		Approved	bA69L16.7, CT95	uc003mxl.2	Q8TC20	OTTHUMG00000014200	ENST00000512086.1:c.1455G>T	6.37:g.7373597C>A	ENSP00000427583:p.Leu485Phe	Somatic		WXS	Illumina HiSeq	Phase_I	D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Missense_Mutation	SNP	ENST00000512086.1	37		.	.	.	.	.	.	.	.	.	.	C	17.13	3.312121	0.60414	.	.	ENSG00000164304	ENST00000541116;ENST00000379918;ENST00000502583;ENST00000296742;ENST00000512086;ENST00000338150;ENST00000542431;ENST00000512691	T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71	4.75	1.92	0.25849	.	0.311276	0.23380	N	0.048819	T	0.44932	0.1317	M	0.61703	1.905	0.29736	N	0.837514	D;B;P	0.89917	1.0;0.385;0.559	D;B;B	0.91635	0.999;0.161;0.264	T	0.33954	-0.9848	10	0.59425	D	0.04	-1.904	5.3273	0.15913	0.0:0.6418:0.1679:0.1903	.	485;485;485	Q8TC20-3;D6RCT9;Q8TC20	.;.;CAGE1_HUMAN	F	485;485;485;349;485;485;485;497	ENSP00000369250:L485F;ENSP00000425493:L485F;ENSP00000296742:L349F;ENSP00000427583:L485F;ENSP00000338107:L485F;ENSP00000423789:L497F	ENSP00000296742:L349F	L	-	3	2	CAGE1	7318596	0.994000	0.37717	0.999000	0.59377	0.991000	0.79684	0.433000	0.21477	0.264000	0.21851	0.591000	0.81541	TTG		0.388	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	protein_coding	OTTHUMT00000367136.1		NM_175745	
CCDC129	223075	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	31682989	31682989	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr7:31682989A>G	ENST00000407970.3	+	11	2043	c.2005A>G	c.(2005-2007)Aaa>Gaa	p.K669E	CCDC129_ENST00000451887.2_Missense_Mutation_p.K695E|CCDC129_ENST00000409210.1_Missense_Mutation_p.K577E|CCDC129_ENST00000319386.3_Missense_Mutation_p.K521E	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	669								p.K521E(1)|p.K669E(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CCACCTCCATAAACTGCCTGG	0.473																																																	2	Substitution - Missense(2)	kidney(2)											86.0	81.0	83.0					7																	31682989		2203	4300	6503	SO:0001583	missense	223075			AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.2005A>G	7.37:g.31682989A>G	ENSP00000384416:p.Lys669Glu	Somatic		WXS	Illumina HiSeq	Phase_I	A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	A	13.53	2.265337	0.40095	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.19394	2.15;2.42;2.42;2.17	5.8	-6.46	0.01908	.	1.594740	0.03149	N	0.167669	T	0.18130	0.0435	L	0.59436	1.845	0.09310	N	1	B;B;B;B	0.17038	0.02;0.02;0.02;0.005	B;B;B;B	0.15484	0.013;0.013;0.013;0.013	T	0.28776	-1.0033	10	0.30854	T	0.27	-2.465	5.6557	0.17640	0.2063:0.1298:0.5372:0.1266	.	695;679;669;521	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	E	521;669;695;679;577	ENSP00000313062:K521E;ENSP00000384416:K669E;ENSP00000395835:K695E;ENSP00000387214:K577E	ENSP00000313062:K521E	K	+	1	0	CCDC129	31649514	0.000000	0.05858	0.000000	0.03702	0.100000	0.18952	-0.307000	0.08167	-0.735000	0.04837	0.533000	0.62120	AAA		0.473	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1		NM_194300	
CDK8	1024	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	26974672	26974672	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr13:26974672C>T	ENST00000381527.3	+	10	1519	c.1016C>T	c.(1015-1017)cCa>cTa	p.P339L	CDK8_ENST00000480323.1_3'UTR|CDK8_ENST00000536792.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	339					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.P339L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		TTAGAAGACCCACTTCCTACA	0.433																																																	1	Substitution - Missense(1)	kidney(1)											160.0	148.0	152.0					13																	26974672		2203	4300	6503	SO:0001583	missense	1024			X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"""Cyclin-dependent kinases"""	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.1016C>T	13.37:g.26974672C>T	ENSP00000370938:p.Pro339Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VUF3|Q6ISB5	Missense_Mutation	SNP	ENST00000381527.3	37	CCDS9317.1	.	.	.	.	.	.	.	.	.	.	C	31	5.104572	0.94245	.	.	ENSG00000132964	ENST00000381527	T	0.41758	0.99	5.8	5.8	0.92144	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.69088	0.3072	M	0.81942	2.565	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.76575	0.988;0.974	T	0.71705	-0.4512	10	0.87932	D	0	-9.6043	20.0479	0.97616	0.0:1.0:0.0:0.0	.	339;339	P49336-2;P49336	.;CDK8_HUMAN	L	339	ENSP00000370938:P339L	ENSP00000370938:P339L	P	+	2	0	CDK8	25872672	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.440000	0.80464	2.750000	0.94351	0.650000	0.86243	CCA		0.433	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1			
CFTR	1080	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	117199625	117199625	+	Silent	SNP	C	C	A			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr7:117199625C>A	ENST00000003084.6	+	11	1632	c.1500C>A	c.(1498-1500)ggC>ggA	p.G500G	AC000111.3_ENST00000441019.1_RNA|CFTR_ENST00000454343.1_Silent_p.G439G	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	500	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)	p.G500G(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	TTATGCCTGGCACCATTAAAG	0.378									Cystic Fibrosis																																								1	Substitution - coding silent(1)	kidney(1)																																								SO:0001819	synonymous_variant	1080	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.1500C>A	7.37:g.117199625C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Silent	SNP	ENST00000003084.6	37	CCDS5773.1																																																																																				0.378	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3		NM_000492	
CHPF2	54480	hgsc.bcm.edu	37	7	150934826	150934827	+	Frame_Shift_Ins	INS	-	-	G	rs144589067	byFrequency	TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr7:150934826_150934827insG	ENST00000035307.2	+	4	2891_2892	c.1378_1379insG	c.(1378-1380)cggfs	p.R460fs	RP4-548D19.3_ENST00000607902.1_RNA|CHPF2_ENST00000495645.1_Frame_Shift_Ins_p.R452fs|MIR671_ENST00000390183.1_RNA	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	460					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TGGGCACCGGCGGGCCCTGGCT	0.653																																																	0																																										SO:0001589	frameshift_variant	54480			AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.1381dupG	7.37:g.150934829_150934829dupG	ENSP00000035307:p.Arg460fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2DBD8|Q6P2I4|Q6UXD2	Frame_Shift_Ins	INS	ENST00000035307.2	37	CCDS34779.1																																																																																				0.653	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2		NM_019015	
CNTNAP3	79937	broad.mit.edu	37	9	39085772	39085772	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr9:39085772A>C	ENST00000297668.6	-	21	3476	c.3403T>G	c.(3403-3405)Ttc>Gtc	p.F1135V	CNTNAP3_ENST00000377656.2_Missense_Mutation_p.F1054V|CNTNAP3_ENST00000358144.2_3'UTR	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	1135	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F1135V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ACGGCGTTGAATTCTGTCCCT	0.388																																																	1	Substitution - Missense(1)	kidney(1)											71.0	91.0	84.0					9																	39085772		2172	4243	6415	SO:0001583	missense	79937			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.3403T>G	9.37:g.39085772A>C	ENSP00000297668:p.Phe1135Val	Somatic		WXS	Illumina GAIIx	Phase_I	B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	A	18.22	3.575084	0.65878	.	.	ENSG00000106714	ENST00000297668;ENST00000377656	T;T	0.77489	-1.1;-1.1	3.28	3.28	0.37604	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.84506	0.5487	M	0.87827	2.91	0.80722	D	1	D;B	0.53312	0.959;0.368	P;B	0.53062	0.717;0.292	D	0.86760	0.1966	9	0.72032	D	0.01	.	10.912	0.47114	1.0:0.0:0.0:0.0	.	1054;1135	A6NC89;Q9BZ76	.;CNTP3_HUMAN	V	1135;1054	ENSP00000297668:F1135V;ENSP00000366884:F1054V	ENSP00000297668:F1135V	F	-	1	0	CNTNAP3	39075772	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	6.849000	0.75414	1.495000	0.48549	0.397000	0.26171	TTC		0.388	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1		NM_033655	
COPA	1314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	160261217	160261217	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr1:160261217T>C	ENST00000241704.7	-	31	3557	c.3328A>G	c.(3328-3330)Aat>Gat	p.N1110D	COPA_ENST00000368069.3_Missense_Mutation_p.N1119D	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1110					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)	p.N1119D(1)|p.N1110D(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AAGAACAGATTGAGGGCTGTA	0.547											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Substitution - Missense(2)	kidney(2)											100.0	89.0	92.0					1																	160261217		2203	4300	6503	SO:0001583	missense	1314			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.3328A>G	1.37:g.160261217T>C	ENSP00000241704:p.Asn1110Asp	Somatic	1807	WXS	Illumina HiSeq	Phase_I	Q5T201|Q8IXZ9	Missense_Mutation	SNP	ENST00000241704.7	37	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.892313	0.91889	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.50277	0.75;0.75	5.97	5.97	0.96955	Coatomer, alpha subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65595	0.2706	M	0.88450	2.955	0.80722	D	1	P;P	0.51791	0.71;0.948	P;P	0.62435	0.755;0.902	T	0.71234	-0.4653	10	0.51188	T	0.08	-25.9874	15.2848	0.73819	0.0:0.0:0.0:1.0	.	1110;1119	P53621;P53621-2	COPA_HUMAN;.	D	1119;1110	ENSP00000357048:N1119D;ENSP00000241704:N1110D	ENSP00000241704:N1110D	N	-	1	0	COPA	158527841	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.320000	0.79064	2.288000	0.76882	0.533000	0.62120	AAT		0.547	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1		NM_004371	
DIP2C	22982	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	375466	375466	+	Silent	SNP	G	G	C	rs367686379		TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr10:375466G>C	ENST00000280886.6	-	30	3747	c.3660C>G	c.(3658-3660)gcC>gcG	p.A1220A		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1220						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.A1220A(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ACTGACTCACGGCAAGAAGCC	0.562																																																	1	Substitution - coding silent(1)	kidney(1)											60.0	52.0	55.0					10																	375466		2203	4300	6503	SO:0001819	synonymous_variant	22982			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3660C>G	10.37:g.375466G>C		Somatic		WXS	Illumina HiSeq	Phase_I	B4DPI5|Q5SS78	Silent	SNP	ENST00000280886.6	37	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	G	3.009	-0.204321	0.06180	.	.	ENSG00000151240	ENST00000434695	.	.	.	5.84	-4.66	0.03329	.	.	.	.	.	T	0.63177	0.2489	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62378	-0.6867	4	.	.	.	-28.521	14.5995	0.68429	0.524:0.0:0.476:0.0	.	.	.	.	G	26	.	.	R	-	1	0	DIP2C	365466	0.855000	0.29742	0.502000	0.27614	0.075000	0.17131	0.043000	0.13971	-1.173000	0.02758	-0.781000	0.03364	CGT		0.562	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1		NM_014974	
EP300	2033	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	41574794	41574794	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr22:41574794A>G	ENST00000263253.7	+	31	8298	c.7079A>G	c.(7078-7080)gAa>gGa	p.E2360G	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2360					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.E2360G(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						AACCCCATGGAACAAGGGCAT	0.577			"""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)											57.0	61.0	59.0					22																	41574794		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.7079A>G	22.37:g.41574794A>G	ENSP00000263253:p.Glu2360Gly	Somatic		WXS	Illumina HiSeq	Phase_I	B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	A	12.81	2.051018	0.36181	.	.	ENSG00000100393	ENST00000263253	D	0.84516	-1.86	5.65	5.65	0.86999	.	0.478549	0.17157	N	0.184831	T	0.79834	0.4514	L	0.34521	1.04	0.40037	D	0.975601	B	0.27791	0.189	B	0.22386	0.039	T	0.78229	-0.2285	10	0.62326	D	0.03	-9.3055	15.8689	0.79091	1.0:0.0:0.0:0.0	.	2360	Q09472	EP300_HUMAN	G	2360	ENSP00000263253:E2360G	ENSP00000263253:E2360G	E	+	2	0	EP300	39904740	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.261000	0.65496	2.150000	0.67090	0.533000	0.62120	GAA		0.577	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1		NM_001429	
EPHA10	284656	broad.mit.edu;hgsc.bcm.edu	37	1	38192872	38192872	+	Silent	SNP	C	C	A			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr1:38192872C>A	ENST00000373048.4	-	8	1673	c.1674G>T	c.(1672-1674)ggG>ggT	p.G558G	EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000540011.1_Silent_p.G53G|EPHA10_ENST00000330210.7_Silent_p.G53G|EPHA10_ENST00000427468.2_Silent_p.G558G	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	558					ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)	p.G559G(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGTCCCTGGACCCTGAGGCAG	0.632																																																	1	Substitution - coding silent(1)	kidney(1)											43.0	58.0	53.0					1																	38192872		2034	4180	6214	SO:0001819	synonymous_variant	284656			AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.1674G>T	1.37:g.38192872C>A		Somatic		WXS	Illumina HiSeq	Phase_I	A4FU89|J3KPB5|Q6NW42	Silent	SNP	ENST00000373048.4	37	CCDS41305.1																																																																																				0.632	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2		NM_173641	
FAM73A	374986	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	78325069	78325069	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr1:78325069C>A	ENST00000370791.3	+	10	1218	c.1186C>A	c.(1186-1188)Cag>Aag	p.Q396K	FAM73A_ENST00000443751.2_Missense_Mutation_p.Q358K	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	396						integral component of membrane (GO:0016021)		p.Q396K(1)		breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		ACAGGCTTTTCAGGTATTTTT	0.423																																																	1	Substitution - Missense(1)	kidney(1)											86.0	82.0	83.0					1																	78325069		2203	4300	6503	SO:0001583	missense	374986				CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.1186C>A	1.37:g.78325069C>A	ENSP00000359827:p.Gln396Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q6MZG0	Missense_Mutation	SNP	ENST00000370791.3	37	CCDS681.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540700	0.85917	.	.	ENSG00000180488	ENST00000370791;ENST00000443751	T;T	0.23552	1.9;1.9	5.4	5.4	0.78164	.	0.056426	0.64402	D	0.000001	T	0.30665	0.0772	L	0.57536	1.79	0.80722	D	1	P;D;D	0.57257	0.885;0.979;0.979	P;P;P	0.52343	0.465;0.696;0.696	T	0.01587	-1.1318	10	0.42905	T	0.14	-21.14	19.1567	0.93514	0.0:1.0:0.0:0.0	.	358;396;396	F8W7S1;B7ZLZ8;Q8NAN2	.;.;FA73A_HUMAN	K	396;358	ENSP00000359827:Q396K;ENSP00000393675:Q358K	ENSP00000359827:Q396K	Q	+	1	0	FAM73A	78097657	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.314000	0.59166	2.527000	0.85204	0.655000	0.94253	CAG		0.423	FAM73A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026931.1		NM_198549	
BRINP2	57795	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	177199237	177199237	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr1:177199237G>T	ENST00000361539.4	+	2	537	c.225G>T	c.(223-225)atG>atT	p.M75I		NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	75					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.M75I(1)									CTGACTTCATGGAGCGGTACC	0.617																																																	1	Substitution - Missense(1)	kidney(1)											58.0	63.0	62.0					1																	177199237		2203	4299	6502	SO:0001583	missense	57795				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.225G>T	1.37:g.177199237G>T	ENSP00000354481:p.Met75Ile	Somatic		WXS	Illumina HiSeq	Phase_I	O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276275	0.40294	.	.	ENSG00000198797	ENST00000361539	T	0.12984	2.63	5.63	5.63	0.86233	.	0.114949	0.56097	D	0.000024	T	0.12944	0.0314	L	0.40543	1.245	0.40975	D	0.984733	B	0.09022	0.002	B	0.12156	0.007	T	0.05616	-1.0874	10	0.33940	T	0.23	-18.7681	12.6262	0.56630	0.0757:0.0:0.9243:0.0	.	75	Q9C0B6	FAM5B_HUMAN	I	75	ENSP00000354481:M75I	ENSP00000354481:M75I	M	+	3	0	FAM5B	175465860	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.877000	0.39598	2.652000	0.90054	0.655000	0.94253	ATG		0.617	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1		NM_021165	
FBLN1	2192	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	45937233	45937233	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr22:45937233G>C	ENST00000327858.6	+	9	1142	c.1047G>C	c.(1045-1047)gaG>gaC	p.E349D	FBLN1_ENST00000476366.1_3'UTR|FBLN1_ENST00000262722.7_Missense_Mutation_p.E349D|FBLN1_ENST00000340923.5_Missense_Mutation_p.E349D|FBLN1_ENST00000442170.2_Missense_Mutation_p.E349D|FBLN1_ENST00000348697.2_Missense_Mutation_p.E349D|FBLN1_ENST00000402984.3_Missense_Mutation_p.E387D	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	349	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)	p.E349D(3)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		ATCTCAACGAGGAGGGAACGC	0.537																																																	3	Substitution - Missense(3)	kidney(3)											102.0	85.0	90.0					22																	45937233		2203	4300	6503	SO:0001583	missense	2192				CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"""Fibulins"""	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1047G>C	22.37:g.45937233G>C	ENSP00000331544:p.Glu349Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	ENST00000327858.6	37	CCDS14067.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.821188	0.32237	.	.	ENSG00000077942	ENST00000348697;ENST00000402984;ENST00000262722;ENST00000327858;ENST00000442170;ENST00000340923	D;D;D;D;D;D	0.92299	-3.01;-3.01;-3.01;-2.2;-3.01;-3.01	5.41	-3.92	0.04155	EGF-like calcium-binding (2);	0.347798	0.33005	N	0.005396	T	0.79358	0.4432	N	0.21583	0.68	0.39554	D	0.969025	B;B;B;B	0.18863	0.031;0.002;0.022;0.014	B;B;B;B	0.23419	0.046;0.006;0.032;0.027	T	0.58370	-0.7648	10	0.14656	T	0.56	.	3.8269	0.08858	0.1947:0.4181:0.281:0.1062	.	387;349;349;349	B1AHL2;P23142;B1AHL4;P23142-4	.;FBLN1_HUMAN;.;.	D	349;387;349;349;349;349	ENSP00000262723:E349D;ENSP00000385521:E387D;ENSP00000262722:E349D;ENSP00000331544:E349D;ENSP00000393812:E349D;ENSP00000342212:E349D	ENSP00000262722:E349D	E	+	3	2	FBLN1	44315897	0.989000	0.36119	0.946000	0.38457	0.837000	0.47467	0.271000	0.18626	-0.448000	0.07128	0.655000	0.94253	GAG		0.537	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1		NM_006486	
FLG	2312	broad.mit.edu;hgsc.bcm.edu	37	1	152283060	152283060	+	Missense_Mutation	SNP	G	G	T	rs201565622		TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr1:152283060G>T	ENST00000368799.1	-	3	4337	c.4302C>A	c.(4300-4302)agC>agA	p.S1434R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1434	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S1434R(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AACGTCCAGAGCTTTCCCCTG	0.557									Ichthyosis																																								1	Substitution - Missense(1)	kidney(1)											197.0	196.0	196.0					1																	152283060		2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4302C>A	1.37:g.152283060G>T	ENSP00000357789:p.Ser1434Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	g	2.718	-0.267264	0.05754	.	.	ENSG00000143631	ENST00000368799	T	0.02258	4.37	2.84	-5.68	0.02436	.	.	.	.	.	T	0.00241	0.0007	N	0.00642	-1.3	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42599	-0.9442	9	0.15066	T	0.55	.	9.2116	0.37322	0.1618:0.2265:0.6117:0.0	.	1434	P20930	FILA_HUMAN	R	1434	ENSP00000357789:S1434R	ENSP00000357789:S1434R	S	-	3	2	FLG	150549684	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.082000	0.03400	-1.689000	0.01434	-0.227000	0.12334	AGC		0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1		NM_002016	
FOXC2	2303	broad.mit.edu	37	16	86601069	86601069	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr16:86601069G>A	ENST00000320354.4	+	1	213	c.128G>A	c.(127-129)gGc>gAc	p.G43D	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	43					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.G43D(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						GTCTATTCCGGCCACCCGGAG	0.697									Late-onset Hereditary Lymphedema																																								1	Substitution - Missense(1)	kidney(1)											29.0	34.0	33.0					16																	86601069		2197	4299	6496	SO:0001583	missense	2303	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"""Forkhead boxes"""	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.128G>A	16.37:g.86601069G>A	ENSP00000326371:p.Gly43Asp	Somatic		WXS	Illumina GAIIx	Phase_I	C6KMR9|Q14DA6	Missense_Mutation	SNP	ENST00000320354.4	37	CCDS10958.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591915	0.66219	.	.	ENSG00000176692	ENST00000320354	D	0.95171	-3.63	4.01	4.01	0.46588	.	0.501813	0.16184	U	0.225696	D	0.87148	0.6105	N	0.22421	0.69	0.38221	D	0.940764	P	0.44195	0.828	B	0.33799	0.17	D	0.87393	0.2364	10	0.37606	T	0.19	.	11.0438	0.47846	0.0:0.1893:0.8107:0.0	.	43	Q99958	FOXC2_HUMAN	D	43	ENSP00000326371:G43D	ENSP00000326371:G43D	G	+	2	0	FOXC2	85158570	1.000000	0.71417	0.996000	0.52242	0.946000	0.59487	4.197000	0.58413	2.075000	0.62263	0.556000	0.70494	GGC		0.697	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2		NM_005251	
FSCB	84075	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	44975274	44975274	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr14:44975274G>T	ENST00000340446.4	-	1	1208	c.917C>A	c.(916-918)gCc>gAc	p.A306D	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000556228.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	306						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.A306D(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		AACTGCAGTGGCTGCCTCAGC	0.517																																																	1	Substitution - Missense(1)	kidney(1)											48.0	49.0	49.0					14																	44975274		2203	4300	6503	SO:0001583	missense	84075			AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.917C>A	14.37:g.44975274G>T	ENSP00000344579:p.Ala306Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.994830	0.35226	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.28454	1.61	2.17	0.199	0.15175	.	.	.	.	.	T	0.24084	0.0583	L	0.34521	1.04	0.09310	N	1	P	0.40282	0.711	P	0.47864	0.559	T	0.17715	-1.0360	9	0.17832	T	0.49	5.0398	2.6704	0.05065	0.1695:0.0:0.5495:0.281	.	306	Q5H9T9	FSCB_HUMAN	D	306	ENSP00000344579:A306D	ENSP00000344579:A306D	A	-	2	0	FSCB	44045024	0.008000	0.16893	0.002000	0.10522	0.288000	0.27193	1.659000	0.37387	0.051000	0.15978	-0.259000	0.10710	GCC		0.517	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1		NM_032135	
GRIN1	2902	broad.mit.edu	37	9	140040311	140040311	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr9:140040311C>T	ENST00000371561.3	+	3	1624	c.527C>T	c.(526-528)gCt>gTt	p.A176V	GRIN1_ENST00000371559.4_Missense_Mutation_p.A176V|GRIN1_ENST00000371555.4_Missense_Mutation_p.A176V|GRIN1_ENST00000371546.4_Missense_Mutation_p.A176V|GRIN1_ENST00000371550.4_Missense_Mutation_p.A176V|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371560.3_Missense_Mutation_p.A176V|GRIN1_ENST00000350902.5_Missense_Mutation_p.A176V|GRIN1_ENST00000315048.3_Missense_Mutation_p.A176V|GRIN1_ENST00000371553.3_Missense_Mutation_p.A176V	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	176					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)	p.A176V(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGCCGGGCGGCTCAGAAACGC	0.677																																					NSCLC(113;717 1653 2089 20474 37618)												1	Substitution - Missense(1)	kidney(1)											40.0	28.0	32.0					9																	140040311		2202	4298	6500	SO:0001583	missense	2902				CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4584	protein-coding gene	gene with protein product		138249	"""N-methyl-D-aspartate receptor subunit NR1"""	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.527C>T	9.37:g.140040311C>T	ENSP00000360616:p.Ala176Val	Somatic		WXS	Illumina GAIIx	Phase_I	A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Missense_Mutation	SNP	ENST00000371561.3	37	CCDS7031.1	.	.	.	.	.	.	.	.	.	.	C	6.779	0.512739	0.12944	.	.	ENSG00000176884	ENST00000371561;ENST00000315048;ENST00000350902;ENST00000371550;ENST00000371546;ENST00000371555;ENST00000371553;ENST00000371559;ENST00000371560	T;T;T;T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	3.33	3.33	0.38152	Extracellular ligand-binding receptor (1);	0.000000	0.85682	U	0.000000	T	0.50820	0.1638	N	0.04203	-0.255	0.58432	D	0.999995	B;B;P;P;P;B	0.39391	0.094;0.009;0.62;0.62;0.671;0.141	B;B;B;B;B;B	0.22386	0.032;0.017;0.023;0.023;0.039;0.021	T	0.60255	-0.7299	10	0.07644	T	0.81	.	13.3549	0.60623	0.0:1.0:0.0:0.0	.	176;176;176;176;176;176	Q5VSF4;Q5VSF5;Q05586-2;Q05586-3;Q05586;A2AVK2	.;.;.;.;NMDZ1_HUMAN;.	V	176	ENSP00000360616:A176V;ENSP00000316696:A176V;ENSP00000316915:A176V;ENSP00000360605:A176V;ENSP00000360601:A176V;ENSP00000360610:A176V;ENSP00000360608:A176V;ENSP00000360614:A176V;ENSP00000360615:A176V	ENSP00000316696:A176V	A	+	2	0	GRIN1	139160132	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.073000	0.76784	1.696000	0.51158	0.313000	0.20887	GCT		0.677	GRIN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055267.3		NM_007327	
GTF2E1	2960	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	120495384	120495384	+	Silent	SNP	C	C	T			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr3:120495384C>T	ENST00000283875.5	+	4	858	c.765C>T	c.(763-765)gtC>gtT	p.V255V		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	255					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.V255V(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		AGAATGTTGTCATTAACATGG	0.502																																																	1	Substitution - coding silent(1)	kidney(1)											103.0	97.0	99.0					3																	120495384		2203	4300	6503	SO:0001819	synonymous_variant	2960			S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"""General transcription factors"""	4650	protein-coding gene	gene with protein product		189962	"""general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"""			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.765C>T	3.37:g.120495384C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q16103	Silent	SNP	ENST00000283875.5	37	CCDS3002.1																																																																																				0.502	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356770.1		NM_005513	
HDLBP	3069	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	242179325	242179325	+	Silent	SNP	G	G	A			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr2:242179325G>A	ENST00000391975.1	-	18	2609	c.2382C>T	c.(2380-2382)atC>atT	p.I794I	HDLBP_ENST00000391976.2_Silent_p.I794I|HDLBP_ENST00000427183.2_Silent_p.I761I|HDLBP_ENST00000310931.4_Silent_p.I794I	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	794	KH 9. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)	p.I794I(1)		breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CCAGGTTTTGGATCAAGGCCT	0.582																																																	1	Substitution - coding silent(1)	kidney(1)											75.0	75.0	75.0					2																	242179325		2203	4300	6503	SO:0001819	synonymous_variant	3069				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.2382C>T	2.37:g.242179325G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Silent	SNP	ENST00000391975.1	37	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.930|6.930	0.541224|0.541224	0.13250|0.13250	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000373292|ENST00000427487	.|.	.|.	.|.	5.38|5.38	-4.96|-4.96	0.03038|0.03038	.|.	.|.	.|.	.|.	.|.	T|T	0.63462|0.63462	0.2513|0.2513	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.64080|0.64080	-0.6491|-0.6491	4|4	.|.	.|.	.|.	-12.1993|-12.1993	15.1693|15.1693	0.72858|0.72858	0.5666:0.0:0.4334:0.0|0.5666:0.0:0.4334:0.0	.|.	.|.	.|.	.|.	S|F	603|196	.|.	.|.	P|S	-|-	1|2	0|0	HDLBP|HDLBP	241827998|241827998	1.000000|1.000000	0.71417|0.71417	0.001000|0.001000	0.08648|0.08648	0.592000|0.592000	0.36648|0.36648	0.758000|0.758000	0.26447|0.26447	-0.965000|-0.965000	0.03591|0.03591	0.655000|0.655000	0.94253|0.94253	CCA|TCC		0.582	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5		NM_203346	
HIST1H2AM	8336	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	27860781	27860781	+	Silent	SNP	C	C	G			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr6:27860781C>G	ENST00000359611.2	-	1	182	c.147G>C	c.(145-147)ccG>ccC	p.P49P	HIST1H2BO_ENST00000303806.4_5'Flank|HIST1H3J_ENST00000479986.1_5'UTR|HIST1H3J_ENST00000359303.2_5'Flank	NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	49						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.P49P(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						CCAGGTAAACCGGCGCGCCGG	0.657																																																	1	Substitution - coding silent(1)	kidney(1)											47.0	55.0	53.0					6																	27860781		2203	4299	6502	SO:0001819	synonymous_variant	8336			X57138	CCDS4639.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000233224	ENSG00000278677		"""Histones / Replication-dependent"""	4735	protein-coding gene	gene with protein product		602796	"""H2A histone family, member N"", ""histone 1, H2am"""	H2AFN		1768865, 9439656, 12408966	Standard	NM_003514		Approved	H2A/n, H2A.1	uc003nkb.1	P0C0S8	OTTHUMG00000014494	ENST00000359611.2:c.147G>C	6.37:g.27860781C>G		Somatic		WXS	Illumina HiSeq	Phase_I	P02261|Q2M1R2|Q76PA6	Silent	SNP	ENST00000359611.2	37	CCDS4639.1																																																																																				0.657	HIST1H2AM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040162.1		NM_003514	
KIAA0195	9772	broad.mit.edu;hgsc.bcm.edu	37	17	73485346	73485346	+	Splice_Site	SNP	G	G	A			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr17:73485346G>A	ENST00000314256.7	+	8	1158		c.e8-1		KIAA0195_ENST00000375248.5_Splice_Site|KIAA0195_ENST00000583795.1_Splice_Site|KIAA0195_ENST00000579208.1_Intron	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195							integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.?(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCTTTCTGCAGATGGTGCCTG	0.562																																																	1	Unknown(1)	kidney(1)											82.0	63.0	69.0					17																	73485346		2203	4300	6503	SO:0001630	splice_region_variant	9772				CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.765-1G>A	17.37:g.73485346G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O75536|Q86XF1	Splice_Site	SNP	ENST00000314256.7	37	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194453	0.78902	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1817	0.93627	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA0195	70996941	1.000000	0.71417	0.989000	0.46669	0.861000	0.49209	8.465000	0.90383	2.526000	0.85167	0.561000	0.74099	.		0.562	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1		NM_014738	Intron
LAMA5	3911	broad.mit.edu;hgsc.bcm.edu	37	20	60921136	60921136	+	Splice_Site	SNP	C	C	T	rs112620160		TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr20:60921136C>T	ENST00000252999.3	-	10	1484		c.e10+1		LAMA5_ENST00000370692.3_Splice_Site|LAMA5_ENST00000370677.3_Splice_Site	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5						angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)	p.?(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CAGGTGCTCACGGTAGCAGCT	0.652																																																	1	Unknown(1)	kidney(1)											40.0	40.0	40.0					20																	60921136		2202	4297	6499	SO:0001630	splice_region_variant	3911			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.1417+1G>A	20.37:g.60921136C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q8TDF8|Q8WZA7|Q9H1P1	Splice_Site	SNP	ENST00000252999.3	37	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852263	0.71719	.	.	ENSG00000130702	ENST00000252999;ENST00000370692;ENST00000370677	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8106	0.88614	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LAMA5	60354531	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	7.316000	0.79007	2.196000	0.70406	0.561000	0.74099	.		0.652	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2		NM_005560	Intron
LAMC2	3918	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	183204764	183204764	+	Nonsense_Mutation	SNP	T	T	G			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr1:183204764T>G	ENST00000264144.4	+	16	2420	c.2355T>G	c.(2353-2355)taT>taG	p.Y785*	LAMC2_ENST00000493293.1_Nonsense_Mutation_p.Y785*	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	785	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)	p.Y785*(1)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CTGAGGACTATTCCAAACAAG	0.517											OREG0014042	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Nonsense(1)	kidney(1)											112.0	98.0	103.0					1																	183204764		2203	4300	6503	SO:0001587	stop_gained	3918			Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.2355T>G	1.37:g.183204764T>G	ENSP00000264144:p.Tyr785*	Somatic	1982	WXS	Illumina HiSeq	Phase_I	Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Nonsense_Mutation	SNP	ENST00000264144.4	37	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	T	36	5.882579	0.97062	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	.	.	.	5.84	-0.673	0.11373	.	0.786356	0.11335	N	0.574673	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.7308	0.18038	0.0:0.3027:0.1452:0.5522	.	.	.	.	X	785	.	ENSP00000264144:Y785X	Y	+	3	2	LAMC2	181471387	0.012000	0.17670	0.002000	0.10522	0.606000	0.37113	-0.343000	0.07791	-0.358000	0.08162	-0.256000	0.11100	TAT		0.517	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1		NM_005562	
LAMC3	10319	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	133911635	133911635	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr9:133911635G>C	ENST00000361069.4	+	4	1025	c.892G>C	c.(892-894)Ggc>Cgc	p.G298R	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	298	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)	p.G298R(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CAACACCACCGGCACAGACTG	0.677																																																	1	Substitution - Missense(1)	kidney(1)											33.0	36.0	35.0					9																	133911635		2198	4297	6495	SO:0001583	missense	10319			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.892G>C	9.37:g.133911635G>C	ENSP00000354360:p.Gly298Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.651399	0.67472	.	.	ENSG00000050555	ENST00000361069;ENST00000355048;ENST00000320021	D	0.91945	-2.94	5.06	5.06	0.68205	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	D	0.98160	0.9392	H	0.99634	4.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99867	1.1091	10	0.87932	D	0	.	17.3931	0.87437	0.0:0.0:1.0:0.0	.	298	Q9Y6N6	LAMC3_HUMAN	R	298	ENSP00000354360:G298R	ENSP00000325873:G298R	G	+	1	0	LAMC3	132901456	1.000000	0.71417	0.079000	0.20413	0.147000	0.21601	7.690000	0.84178	2.334000	0.79466	0.462000	0.41574	GGC		0.677	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3		NM_006059	
LRIG1	26018	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	66502055	66502055	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr3:66502055T>C	ENST00000273261.3	-	3	817	c.293A>G	c.(292-294)tAc>tGc	p.Y98C	LRIG1_ENST00000383703.3_Missense_Mutation_p.Y98C	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	98					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)		p.Y98C(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		ATTATTGAGGTACCTGTAACA	0.428																																																	1	Substitution - Missense(1)	kidney(1)											147.0	131.0	136.0					3																	66502055		2203	4300	6503	SO:0001583	missense	26018			AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.293A>G	3.37:g.66502055T>C	ENSP00000273261:p.Tyr98Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	CCDS33783.1	.	.	.	.	.	.	.	.	.	.	T	18.68	3.676260	0.67928	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.58506	0.33;0.33	5.91	4.69	0.59074	.	0.370683	0.27677	N	0.018304	T	0.71719	0.3373	M	0.82823	2.61	0.37636	D	0.92187	P;P	0.51351	0.931;0.944	P;P	0.59115	0.77;0.852	T	0.75836	-0.3177	10	0.54805	T	0.06	.	8.6143	0.33822	0.2119:0.0:0.0:0.7881	.	98;98	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	C	98;98;25	ENSP00000273261:Y98C;ENSP00000373208:Y98C	ENSP00000273261:Y98C	Y	-	2	0	LRIG1	66584745	0.988000	0.35896	1.000000	0.80357	0.910000	0.53928	0.125000	0.15749	0.938000	0.37419	0.533000	0.62120	TAC		0.428	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1		NM_015541	
MACROD2	140733	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	15967789	15967789	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr20:15967789A>C	ENST00000310348.4	+	15	1139	c.1139A>C	c.(1138-1140)aAa>aCa	p.K380T	MACROD2_ENST00000217246.4_Missense_Mutation_p.K380T|MACROD2_ENST00000407045.3_Missense_Mutation_p.K31T|MACROD2_ENST00000378058.3_Missense_Mutation_p.K145T|MACROD2_ENST00000402914.1_Missense_Mutation_p.K145T			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	380	Glu-rich.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)	p.K145T(1)|p.K380T(1)		breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				CAAGAAGAAAAAGAAGGTGAA	0.383																																																	2	Substitution - Missense(2)	kidney(2)											107.0	104.0	105.0					20																	15967789		2203	4300	6503	SO:0001583	missense	140733			BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.1139A>C	20.37:g.15967789A>C	ENSP00000309809:p.Lys380Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	ENST00000310348.4	37	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	A	11.66	1.705387	0.30232	.	.	ENSG00000172264	ENST00000217246;ENST00000310348;ENST00000402914;ENST00000378058;ENST00000407045	T;T;T;T	0.48836	2.42;2.42;0.8;0.8	5.68	4.52	0.55395	.	0.518330	0.17852	N	0.159801	T	0.39462	0.1079	L	0.34521	1.04	0.19775	N	0.999955	B;B;B	0.25609	0.13;0.041;0.069	B;B;B	0.32533	0.147;0.023;0.034	T	0.39333	-0.9619	10	0.72032	D	0.01	-2.7354	9.5361	0.39224	0.843:0.0:0.0:0.157	.	31;380;380	A1Z1Q3-6;A1Z1Q3;A1Z1Q3-2	.;MACD2_HUMAN;.	T	380;380;145;145;31	ENSP00000217246:K380T;ENSP00000309809:K380T;ENSP00000385290:K145T;ENSP00000367297:K145T	ENSP00000217246:K380T	K	+	2	0	MACROD2	15915789	0.995000	0.38212	0.416000	0.26546	0.904000	0.53231	1.120000	0.31271	2.166000	0.68216	0.482000	0.46254	AAA		0.383	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_080676	
MALAT1	378938	broad.mit.edu;hgsc.bcm.edu	37	11	65268083	65268083	+	lincRNA	SNP	A	A	G			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr11:65268083A>G	ENST00000534336.1	+	0	2851				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		GCTAGGAAAAAGGATTCCAGG	0.532																																																	0													146.0	128.0	134.0					11																	65268083		874	1988	2862			378938			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65268083A>G		Somatic		WXS	Illumina HiSeq	Phase_I		RNA	SNP	ENST00000534336.1	37																																																																																					0.532	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1		NR_002819	
MYBL2	4605	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	42344673	42344673	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr20:42344673G>T	ENST00000217026.4	+	14	2176	c.2049G>T	c.(2047-2049)caG>caT	p.Q683H	MYBL2_ENST00000396863.4_Missense_Mutation_p.Q659H	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	683					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q683H(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AAGCCCGGCAGCTCCTGGGCC	0.602																																																	1	Substitution - Missense(1)	kidney(1)											108.0	115.0	113.0					20																	42344673		2203	4300	6503	SO:0001583	missense	4605				CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.2049G>T	20.37:g.42344673G>T	ENSP00000217026:p.Gln683His	Somatic		WXS	Illumina HiSeq	Phase_I	B2RBS5|B7Z8D9|F8W6N6|Q53F07	Missense_Mutation	SNP	ENST00000217026.4	37	CCDS13322.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598318	0.66332	.	.	ENSG00000101057	ENST00000396863;ENST00000217026	T;T	0.15487	2.42;2.42	4.73	4.73	0.59995	.	0.193934	0.46758	D	0.000265	T	0.31389	0.0795	L	0.51422	1.61	0.36438	D	0.86534	D;D	0.67145	0.995;0.996	P;D	0.64687	0.885;0.928	T	0.24621	-1.0155	10	0.72032	D	0.01	-20.5399	10.5481	0.45072	0.0916:0.0:0.9084:0.0	.	659;683	F8W6N6;P10244	.;MYBB_HUMAN	H	659;683	ENSP00000380072:Q659H;ENSP00000217026:Q683H	ENSP00000217026:Q683H	Q	+	3	2	MYBL2	41778087	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.932000	0.48940	2.355000	0.79922	0.491000	0.48974	CAG		0.602	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1		NM_002466	
MYH2	4620	broad.mit.edu;hgsc.bcm.edu	37	17	10426861	10426861	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr17:10426861C>A	ENST00000245503.5	-	37	5808	c.5424G>T	c.(5422-5424)caG>caT	p.Q1808H	MYH2_ENST00000397183.2_Missense_Mutation_p.Q1808H|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1808					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.Q1808H(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCAGGGCCAGCTGCTCAGCCT	0.552																																																	1	Substitution - Missense(1)	kidney(1)											99.0	102.0	101.0					17																	10426861		2203	4300	6503	SO:0001583	missense	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.5424G>T	17.37:g.10426861C>A	ENSP00000245503:p.Gln1808His	Somatic		WXS	Illumina HiSeq	Phase_I	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.450995	0.63290	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.80033	-1.33;-1.33	5.5	4.53	0.55603	Myosin tail (1);	0.000000	0.37483	U	0.002063	D	0.92054	0.7482	H	0.96430	3.82	0.42892	D	0.9942	D	0.89917	1.0	D	0.97110	1.0	D	0.93478	0.6825	10	0.87932	D	0	.	10.6722	0.45766	0.0:0.8553:0.0:0.1447	.	1808	Q9UKX2	MYH2_HUMAN	H	1808	ENSP00000245503:Q1808H;ENSP00000380367:Q1808H	ENSP00000245503:Q1808H	Q	-	3	2	MYH2	10367586	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.682000	0.37628	1.556000	0.49512	0.655000	0.94253	CAG		0.552	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3		NM_017534	
MYO5B	4645	broad.mit.edu;hgsc.bcm.edu	37	18	47432966	47432966	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr18:47432966A>T	ENST00000285039.7	-	19	2536	c.2237T>A	c.(2236-2238)aTc>aAc	p.I746N		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	746	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)	p.I746N(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCGAAAGAAGATCTTGGTGCG	0.557																																																	1	Substitution - Missense(1)	kidney(1)											60.0	64.0	63.0					18																	47432966		1911	4121	6032	SO:0001583	missense	4645			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.2237T>A	18.37:g.47432966A>T	ENSP00000285039:p.Ile746Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.732196	0.89482	.	.	ENSG00000167306	ENST00000285039	D	0.96334	-3.98	5.42	5.42	0.78866	Myosin head, motor domain (2);	0.056179	0.64402	D	0.000001	D	0.98801	0.9596	H	0.97315	3.98	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.99636	1.0987	10	0.87932	D	0	.	15.2907	0.73865	1.0:0.0:0.0:0.0	.	746	Q9ULV0	MYO5B_HUMAN	N	746	ENSP00000285039:I746N	ENSP00000285039:I746N	I	-	2	0	MYO5B	45686964	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.606000	0.90888	2.268000	0.75426	0.533000	0.62120	ATC		0.557	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			
NAF1	92345	broad.mit.edu;ucsc.edu	37	4	164050358	164050358	+	Silent	SNP	A	A	G			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr4:164050358A>G	ENST00000274054.2	-	8	1369	c.1176T>C	c.(1174-1176)ccT>ccC	p.P392P	NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	392					pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.P392P(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				AGAAATGCTGAGGTGGAGGCC	0.458																																																	1	Substitution - coding silent(1)	kidney(1)											103.0	112.0	109.0					4																	164050358		2203	4300	6503	SO:0001819	synonymous_variant	92345				CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"""nuclear assembly factor 1 homolog (S. cerevisiae)"""			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.1176T>C	4.37:g.164050358A>G		Somatic		WXS	Illumina GAIIx	Phase_I	D3DP28|E9PAZ2	Silent	SNP	ENST00000274054.2	37	CCDS3803.1																																																																																				0.458	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2		NM_138386	
NEO1	4756	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	73590937	73590937	+	Silent	SNP	T	T	C			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr15:73590937T>C	ENST00000339362.5	+	28	4597	c.4150T>C	c.(4150-4152)Tta>Cta	p.L1384L	NEO1_ENST00000261908.6_Silent_p.L1384L|NEO1_ENST00000558964.1_Silent_p.L1373L|NEO1_ENST00000560262.1_Silent_p.L1331L			Q92859	NEO1_HUMAN	neogenin 1	1384					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.L1384L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						AAGCACACCATTACTGTCCCA	0.582																																																	1	Substitution - coding silent(1)	kidney(1)											78.0	66.0	70.0					15																	73590937		2198	4297	6495	SO:0001819	synonymous_variant	4756			U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.4150T>C	15.37:g.73590937T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B7ZKM9|B7ZKN0|O00340|Q17RX1	Silent	SNP	ENST00000339362.5	37	CCDS10247.1																																																																																				0.582	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2		NM_002499	
NLE1	54475	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	33464021	33464021	+	Splice_Site	SNP	T	T	G			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr17:33464021T>G	ENST00000442241.4	-	7	866	c.827A>C	c.(826-828)gAc>gCc	p.D276A	NLE1_ENST00000586869.1_5'UTR|NLE1_ENST00000593176.1_5'Flank|NLE1_ENST00000360831.5_Splice_Site_p.D234A	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	276					hematopoietic stem cell homeostasis (GO:0061484)|inner cell mass cell differentiation (GO:0001826)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of mitotic cell cycle (GO:0045930)|Notch signaling pathway (GO:0007219)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|ribosomal large subunit biogenesis (GO:0042273)	nucleolus (GO:0005730)|nucleus (GO:0005634)		p.D276A(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				AGCACTTACGTCATGAGCTCT	0.572																																																	1	Substitution - Missense(1)	kidney(1)											92.0	95.0	94.0					17																	33464021		2203	4300	6503	SO:0001630	splice_region_variant	54475				CCDS11291.1, CCDS45647.1	17q12	2013-01-10		2005-08-09	ENSG00000073536	ENSG00000073536		"""WD repeat domain containing"""	19889	protein-coding gene	gene with protein product	"""Notchless gene homolog, (Drosophila)"""						Standard	XM_005257989		Approved	FLJ10458	uc002hiy.1	Q9NVX2	OTTHUMG00000132928	ENST00000442241.4:c.828+1A>C	17.37:g.33464021T>G		Somatic		WXS	Illumina HiSeq	Phase_I	O60868|Q59GJ8|Q9BU54	Missense_Mutation	SNP	ENST00000442241.4	37	CCDS11291.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.89|17.89	3.500520|3.500520	0.64298|0.64298	.|.	.|.	ENSG00000073536|ENSG00000073536	ENST00000442241;ENST00000537697|ENST00000436188	T|.	0.56444|.	0.46|.	4.6|4.6	4.6|4.6	0.57074|0.57074	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56601|0.56601	0.1996|0.1996	L|L	0.41710|0.41710	1.295|1.295	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.83275|.	0.996|.	T|T	0.53865|0.53865	-0.8378|-0.8378	10|5	0.56958|.	D|.	0.05|.	-14.6923|-14.6923	12.0147|12.0147	0.53307|0.53307	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	276|.	Q9NVX2|.	NLE1_HUMAN|.	A|P	276;252|56	ENSP00000413572:D276A|.	ENSP00000413572:D276A|.	D|T	-|-	2|1	0|0	NLE1|NLE1	30488134|30488134	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.689000|0.689000	0.40095|0.40095	7.250000|7.250000	0.78287|0.78287	1.950000|1.950000	0.56595|0.56595	0.533000|0.533000	0.62120|0.62120	GAC|ACG		0.572	NLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256441.2		NM_018096	Missense_Mutation
NMT2	9397	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	15154856	15154856	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr10:15154856T>C	ENST00000378165.4	-	10	1357	c.1277A>G	c.(1276-1278)aAc>aGc	p.N426S	NMT2_ENST00000378150.1_Missense_Mutation_p.N413S|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000535341.1_Missense_Mutation_p.N413S|NMT2_ENST00000540259.1_Missense_Mutation_p.N238S	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	426					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)	p.N426S(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						TGTGTGGATGTTGTAGAATGA	0.547																																					Melanoma(117;1345 1645 4130 12688 30625)												1	Substitution - Missense(1)	kidney(1)											194.0	189.0	191.0					10																	15154856		2203	4300	6503	SO:0001583	missense	9397			AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.1277A>G	10.37:g.15154856T>C	ENSP00000367407:p.Asn426Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Missense_Mutation	SNP	ENST00000378165.4	37	CCDS7109.1	.	.	.	.	.	.	.	.	.	.	T	17.19	3.326188	0.60743	.	.	ENSG00000152465	ENST00000378165;ENST00000378150;ENST00000378143;ENST00000540259;ENST00000535341	T	0.44482	0.92	5.69	5.69	0.88448	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, C-terminal (1);	0.043191	0.85682	D	0.000000	T	0.50582	0.1624	M	0.86651	2.83	0.80722	D	1	P;P;P	0.41929	0.637;0.765;0.637	B;B;B	0.37267	0.245;0.206;0.245	T	0.62534	-0.6834	10	0.66056	D	0.02	-35.6656	15.9506	0.79830	0.0:0.0:0.0:1.0	.	426;413;426	B2RCF3;Q5VUC6;O60551	.;.;NMT2_HUMAN	S	426;413;457;238;413	ENSP00000367407:N426S	ENSP00000367385:N457S	N	-	2	0	NMT2	15194862	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	5.019000	0.64060	2.166000	0.68216	0.533000	0.62120	AAC		0.547	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046958.2		NM_004808	
NUP88	4927	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	5290385	5290385	+	Silent	SNP	G	G	A			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr17:5290385G>A	ENST00000573584.1	-	15	2471	c.1962C>T	c.(1960-1962)ctC>ctT	p.L654L	NUP88_ENST00000573169.1_5'Flank	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	654					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.L654L(1)		endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						CACTATCAGAGAGAACTGGGA	0.388																																																	1	Substitution - coding silent(1)	kidney(1)											94.0	93.0	93.0					17																	5290385		2203	4300	6503	SO:0001819	synonymous_variant	4927			Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"""nucleoporin 88kD"""			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.1962C>T	17.37:g.5290385G>A		Somatic		WXS	Illumina HiSeq	Phase_I	D3DTM2|Q9BWE5	Missense_Mutation	SNP	ENST00000573584.1	37	CCDS11070.1																																																																																				0.388	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216918.3		NM_002532	
OR2H2	7932	hgsc.bcm.edu	37	6	29555969	29555969	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr6:29555969delT	ENST00000383640.2	+	1	287	c.248delT	c.(247-249)ctcfs	p.L83fs	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	83					defense response (GO:0006952)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|mating (GO:0007618)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						CTGGTCAACCTCTGGGGCCCA	0.522																																																	0													130.0	121.0	124.0					6																	29555969		1511	2709	4220	SO:0001589	frameshift_variant	7932				CCDS34365.1	6p22.2-p21.31	2012-08-09				ENSG00000204657		"""GPCR / Class A : Olfactory receptors"""	8253	protein-coding gene	gene with protein product		600578					Standard	XM_005249407		Approved	hs6M1-12	uc003nmr.1	O95918		ENST00000383640.2:c.248delT	6.37:g.29555969delT	ENSP00000373136:p.Leu83fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q15062|Q2M1Y3|Q5STL8|Q5SUK1|Q6IFN7|Q6NTB7|Q96R14	Frame_Shift_Del	DEL	ENST00000383640.2	37	CCDS34365.1																																																																																				0.522	OR2H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076057.2			
PBRM1	55193	broad.mit.edu	37	3	52678806	52678806	+	Splice_Site	SNP	C	C	T			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr3:52678806C>T	ENST00000296302.7	-	8	815		c.e8-1		PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000409114.3_Splice_Site|PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000356770.4_Splice_Site|PBRM1_ENST00000394830.3_Splice_Site			Q86U86	PB1_HUMAN	polybromo 1						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.?(3)		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)		AATTTGCATCCTGTCAAGATA	0.338			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	3	Unknown(3)	kidney(3)											35.0	36.0	35.0					3																	52678806		2201	4296	6497	SO:0001630	splice_region_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.814-1G>A	3.37:g.52678806C>T		Somatic		WXS	Illumina GAIIx	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Splice_Site	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	C	23.7	4.446384	0.84101	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.995	0.89181	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PBRM1	52653846	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.006000	0.70724	2.683000	0.91414	0.563000	0.77884	.		0.338	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	Intron
PCDHB13	56123	broad.mit.edu;hgsc.bcm.edu	37	5	140594137	140594137	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr5:140594137C>T	ENST00000341948.4	+	1	629	c.442C>T	c.(442-444)Cct>Tct	p.P148S		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	148	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P148S(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAGAGCAGTCCTCCTGGGAC	0.418																																																	1	Substitution - Missense(1)	kidney(1)											68.0	70.0	69.0					5																	140594137		2203	4300	6503	SO:0001583	missense	56123			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.442C>T	5.37:g.140594137C>T	ENSP00000345491:p.Pro148Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	c	11.05	1.525321	0.27299	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.54279	0.58	3.71	-7.42	0.01388	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.32971	0.0847	L	0.45285	1.41	0.09310	N	1	B	0.17667	0.023	B	0.15870	0.014	T	0.15350	-1.0440	9	0.31617	T	0.26	.	1.8563	0.03179	0.1614:0.235:0.3684:0.2352	.	148	Q9Y5F0	PCDBD_HUMAN	S	148	ENSP00000345491:P148S	ENSP00000345491:P148S	P	+	1	0	PCDHB13	140574321	0.000000	0.05858	0.000000	0.03702	0.703000	0.40648	-7.249000	0.00040	-2.381000	0.00594	-0.339000	0.08088	CCT		0.418	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1		NM_018933	
PRKD3	23683	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	37486752	37486752	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr2:37486752G>T	ENST00000379066.1	-	16	2881	c.2119C>A	c.(2119-2121)Ctt>Att	p.L707I	PRKD3_ENST00000234179.2_Missense_Mutation_p.L707I			O94806	KPCD3_HUMAN	protein kinase D3	707	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)	p.L707I(2)		breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				GCTGATGCAAGCAGCACATTT	0.358																																					Melanoma(80;621 1355 8613 11814 51767)												2	Substitution - Missense(2)	kidney(2)											102.0	100.0	100.0					2																	37486752		2203	4300	6503	SO:0001583	missense	23683			AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.2119C>A	2.37:g.37486752G>T	ENSP00000368356:p.Leu707Ile	Somatic		WXS	Illumina HiSeq	Phase_I	D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	CCDS1789.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.59|19.59	3.856979|3.856979	0.71834|0.71834	.|.	.|.	ENSG00000115825|ENSG00000115825	ENST00000452104|ENST00000379066;ENST00000234179	.|T;T	.|0.66460	.|-0.21;-0.21	5.43|5.43	5.43|5.43	0.79202|0.79202	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.64402	.|D	.|0.000002	.|T	.|0.75354	.|0.3838	L|L	0.42529|0.42529	1.33|1.33	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.89917	.|1.0	.|D	.|0.81914	.|0.995	.|T	.|0.77273	.|-0.2649	.|10	.|0.87932	.|D	.|0	-15.516|-15.516	13.539|13.539	0.61662|0.61662	0.0743:0.0:0.9257:0.0|0.0743:0.0:0.9257:0.0	.|.	.|707	.|O94806	.|KPCD3_HUMAN	X|I	99|707	.|ENSP00000368356:L707I;ENSP00000234179:L707I	.|ENSP00000234179:L707I	C|L	-|-	3|1	2|0	PRKD3|PRKD3	37340256|37340256	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.678000|5.678000	0.68153|0.68153	2.544000|2.544000	0.85801|0.85801	0.585000|0.585000	0.79938|0.79938	TGC|CTT		0.358	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3		NM_005813	
PTEN	5728	broad.mit.edu;hgsc.bcm.edu	37	10	89717762	89717762	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr10:89717762A>T	ENST00000371953.3	+	7	2144	c.787A>T	c.(787-789)Aag>Tag	p.K263*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	263	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.K263*(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.D252_K263>AKE(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAAACAGAACAAGATGCTAAA	0.368		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	52	Whole gene deletion(37)|Deletion - Frameshift(9)|Substitution - Nonsense(3)|Deletion - In frame(1)|Complex - deletion inframe(1)|Unknown(1)	prostate(16)|central_nervous_system(11)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)|endometrium(1)|kidney(1)											97.0	88.0	91.0					10																	89717762		2203	4300	6503	SO:0001587	stop_gained	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.787A>T	10.37:g.89717762A>T	ENSP00000361021:p.Lys263*	Somatic		WXS	Illumina HiSeq	Phase_I	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	49	15.476535	0.99835	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.15	5.15	0.70609	.	0.093551	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.1303	14.9657	0.71193	1.0:0.0:0.0:0.0	.	.	.	.	X	263	.	.	K	+	1	0	PTEN	89707742	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.918000	0.92759	1.928000	0.55862	0.477000	0.44152	AAG		0.368	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1		NM_000314	
RBMX	27316	hgsc.bcm.edu	37	X	135961587	135961587	+	5'UTR	DEL	G	G	-	rs201673579|rs2011584		TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chrX:135961587delG	ENST00000320676.7	-	0	154				RBMX_ENST00000431446.3_5'UTR|RBMX_ENST00000565438.1_Intron|RBMX_ENST00000562646.1_5'UTR|SNORD61_ENST00000384252.1_RNA|RBMX_ENST00000570135.1_5'UTR	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked						cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.?(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CTTCAACCATGTTTTTTTTTT	0.393																																																	1	Unknown(1)	ovary(1)											53.0	53.0	53.0					X																	135961587		2198	4294	6492	SO:0001623	5_prime_UTR_variant	27316				CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"""RNA binding motif (RRM) containing"""	9910	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G"""	300199	"""RNA binding motif protein, X chromosome"""			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.-1C>-	X.37:g.135961587delG		Somatic		WXS	Illumina HiSeq	Phase_I	B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Frame_Shift_Del	DEL	ENST00000320676.7	37	CCDS14661.1																																																																																				0.393	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1		NM_002139	
RIF1	55183	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	152300220	152300220	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr2:152300220T>G	ENST00000243326.5	+	17	2466	c.1983T>G	c.(1981-1983)aaT>aaG	p.N661K	RIF1_ENST00000444746.2_Missense_Mutation_p.N661K|RIF1_ENST00000430328.2_Missense_Mutation_p.N661K|RIF1_ENST00000428287.2_Missense_Mutation_p.N661K|RIF1_ENST00000453091.2_Missense_Mutation_p.N661K			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.N661K(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AATTGATTAATCAGGTATGAA	0.303																																																	1	Substitution - Missense(1)	kidney(1)											67.0	71.0	69.0					2																	152300220		2202	4300	6502	SO:0001583	missense	55183			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.1983T>G	2.37:g.152300220T>G	ENSP00000243326:p.Asn661Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	CCDS2194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.56|12.56	1.976000|1.976000	0.34848|0.34848	.|.	.|.	ENSG00000080345|ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328|ENST00000414861	D;D;D;D;D|.	0.98807|.	-5.15;-5.15;-5.15;-5.15;-5.15|.	5.34|5.34	2.89|2.89	0.33648|0.33648	.|.	0.095883|.	0.64402|.	D|.	0.000001|.	T|T	0.56411|0.56411	0.1983|0.1983	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	P;P|.	0.47762|.	0.565;0.9|.	B;B|.	0.42522|.	0.156;0.39|.	T|T	0.51803|0.51803	-0.8659|-0.8659	10|5	0.05721|.	T|.	0.95|.	-14.1098|-14.1098	4.9068|4.9068	0.13802|0.13802	0.0:0.4595:0.0:0.5405|0.0:0.4595:0.0:0.5405	.|.	661;661|.	Q5UIP0;Q5UIP0-2|.	RIF1_HUMAN;.|.	K|A	661|653	ENSP00000390181:N661K;ENSP00000414615:N661K;ENSP00000415691:N661K;ENSP00000243326:N661K;ENSP00000416123:N661K|.	ENSP00000243326:N661K|.	N|S	+|+	3|1	2|0	RIF1|RIF1	152008466|152008466	0.944000|0.944000	0.32072|0.32072	1.000000|1.000000	0.80357|0.80357	0.959000|0.959000	0.62525|0.62525	-0.040000|-0.040000	0.12104|0.12104	0.824000|0.824000	0.34613|0.34613	0.377000|0.377000	0.23210|0.23210	AAT|TCA		0.303	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			
RNF216	54476	broad.mit.edu	37	7	5752486	5752486	+	Silent	SNP	G	G	T			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr7:5752486G>T	ENST00000425013.2	-	12	1895	c.1671C>A	c.(1669-1671)ctC>ctA	p.L557L	RNF216_ENST00000389902.3_Silent_p.L614L	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	557					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.L614L(1)	FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CCATGCAGCTGAGCTCCAACT	0.438																																																	1	Substitution - coding silent(1)	kidney(1)											34.0	33.0	33.0					7																	5752486		2203	4300	6503	SO:0001819	synonymous_variant	54476			AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.1671C>A	7.37:g.5752486G>T		Somatic		WXS	Illumina GAIIx	Phase_I	Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Silent	SNP	ENST00000425013.2	37	CCDS34595.1																																																																																				0.438	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1		NM_207111	
S100A10	6281	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	151955649	151955649	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr1:151955649C>A	ENST00000368811.3	-	3	943	c.284G>T	c.(283-285)gGa>gTa	p.G95V	S100A10_ENST00000478574.1_5'Flank|S100A10_ENST00000368809.1_Missense_Mutation_p.G95V	NM_002966.2	NP_002957.1	P60903	S10AA_HUMAN	S100 calcium binding protein A10	95					cellular response to acid chemical (GO:0071229)|establishment of protein localization to plasma membrane (GO:0090002)|membrane budding (GO:0006900)|membrane raft assembly (GO:0001765)|positive regulation of binding (GO:0051099)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein heterotetramerization (GO:0051290)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)	p.G95V(1)|p.G95E(1)		breast(1)|kidney(1)|lung(2)|ovary(2)	6	Melanoma(130;0.0648)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTACTTCTTTCCCTTCTGCTT	0.483																																																	2	Substitution - Missense(2)	ovary(1)|kidney(1)											195.0	203.0	200.0					1																	151955649		2203	4300	6503	SO:0001583	missense	6281			BC015973	CCDS1008.1	1q21	2012-04-04	2006-09-11		ENSG00000197747	ENSG00000197747		"""S100 calcium binding proteins"""	10487	protein-coding gene	gene with protein product	"""annexin II tetramer (AIIt) p11 subunit"""	114085	"""S100 calcium-binding protein A10 (annexin II ligand, calpactin I, light polypeptide (p11))"", ""S100 calcium binding protein A10 (annexin II ligand, calpactin I, light polypeptide (p11))"""	ANX2LG, CAL1L		8276421	Standard	NM_002966		Approved	P11, 42C, CLP11	uc001ezl.3	P60903	OTTHUMG00000013068	ENST00000368811.3:c.284G>T	1.37:g.151955649C>A	ENSP00000357801:p.Gly95Val	Somatic		WXS	Illumina HiSeq	Phase_I	A8K4V8|P08206|Q5T1C5	Missense_Mutation	SNP	ENST00000368811.3	37	CCDS1008.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944271	0.73672	.	.	ENSG00000197747	ENST00000368811;ENST00000368809	T;T	0.05855	3.38;3.38	5.56	5.56	0.83823	.	0.422619	0.25720	N	0.028742	T	0.04497	0.0123	.	.	.	0.80722	D	1	P	0.34780	0.468	B	0.39503	0.301	T	0.10567	-1.0624	9	0.87932	D	0	.	10.2653	0.43452	0.0:0.913:0.0:0.087	.	95	P60903	S10AA_HUMAN	V	95	ENSP00000357801:G95V;ENSP00000357799:G95V	ENSP00000357799:G95V	G	-	2	0	S100A10	150222273	0.375000	0.25089	0.984000	0.44739	0.982000	0.71751	2.801000	0.47908	2.890000	0.99128	0.655000	0.94253	GGA		0.483	S100A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036673.1		NM_002966	
SALL2	6297	broad.mit.edu	37	14	21992408	21992408	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr14:21992408C>A	ENST00000327430.3	-	2	1748	c.1454G>T	c.(1453-1455)aGt>aTt	p.S485I	SALL2_ENST00000450879.2_Missense_Mutation_p.S348I|SALL2_ENST00000317492.5_Intron|AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	485					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.S485I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CTCTGTGGCACTGAGTGCTGT	0.587																																																	1	Substitution - Missense(1)	kidney(1)											37.0	34.0	35.0					14																	21992408		2203	4300	6503	SO:0001583	missense	6297			AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.1454G>T	14.37:g.21992408C>A	ENSP00000333537:p.Ser485Ile	Somatic		WXS	Illumina GAIIx	Phase_I	B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP	ENST00000327430.3	37	CCDS32045.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.449|8.449	0.852696|0.852696	0.17106|0.17106	.|.	.|.	ENSG00000165821|ENSG00000165821	ENST00000327430;ENST00000450879;ENST00000541876|ENST00000546363	T;T|.	0.04083|.	3.81;3.71|.	4.6|4.6	3.67|3.67	0.42095|0.42095	.|.	0.162978|.	0.29212|.	N|.	0.012816|.	T|T	0.40247|0.40247	0.1109|0.1109	L|L	0.29908|0.29908	0.895|0.895	0.33370|0.33370	D|D	0.573403|0.573403	P;P;P|.	0.40476|.	0.718;0.718;0.578|.	B;B;B|.	0.34242|.	0.128;0.178;0.088|.	T|T	0.48433|0.48433	-0.9036|-0.9036	10|5	0.16420|.	T|.	0.52|.	-21.0715|-21.0715	9.7356|9.7356	0.40386|0.40386	0.0:0.7703:0.2297:0.0|0.0:0.7703:0.2297:0.0	.|.	348;348;485|.	B4DK65;E7EW59;Q9Y467|.	.;.;SALL2_HUMAN|.	I|L	485;348;485|344	ENSP00000333537:S485I;ENSP00000396773:S348I|.	ENSP00000333537:S485I|.	S|V	-|-	2|1	0|0	SALL2|SALL2	21062248|21062248	0.973000|0.973000	0.33851|0.33851	0.998000|0.998000	0.56505|0.56505	0.783000|0.783000	0.44284|0.44284	0.258000|0.258000	0.18387|0.18387	2.385000|2.385000	0.81259|0.81259	0.563000|0.563000	0.77884|0.77884	AGT|GTG		0.587	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1		NM_005407	
SBF1	6305	broad.mit.edu;hgsc.bcm.edu	37	22	50903272	50903272	+	Silent	SNP	T	T	C			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr22:50903272T>C	ENST00000390679.3	-	13	1591	c.1407A>G	c.(1405-1407)gaA>gaG	p.E469E	SBF1_ENST00000380817.3_Silent_p.E469E|SBF1_ENST00000348911.6_Silent_p.E470E			O95248	MTMR5_HUMAN	SET binding factor 1	469					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.E469E(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GCTCTGCCAGTTCCTGGACGT	0.657																																																	2	Substitution - coding silent(2)	kidney(2)											46.0	52.0	50.0					22																	50903272		2139	4235	6374	SO:0001819	synonymous_variant	6305			U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.1407A>G	22.37:g.50903272T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Silent	SNP	ENST00000390679.3	37																																																																																					0.657	SBF1-201	KNOWN	basic	protein_coding	protein_coding				
SEPT4	5414	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	56603081	56603081	+	Silent	SNP	C	C	A			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr17:56603081C>A	ENST00000317268.3	-	4	689	c.513G>T	c.(511-513)cgG>cgT	p.R171R	SEPT4_ENST00000457347.2_Silent_p.R186R|SEPT4_ENST00000583114.1_Silent_p.R24R|SEPT4_ENST00000317256.6_Silent_p.R152R|SEPT4_ENST00000579371.1_Silent_p.R72R|RP11-112H10.4_ENST00000578022.1_RNA|SEPT4_ENST00000580844.1_Silent_p.R72R|RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000426861.1_Silent_p.R152R|SEPT4_ENST00000580791.1_5'Flank|SEPT4_ENST00000393086.1_Silent_p.R152R|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000580809.1_Silent_p.R53R|SEPT4_ENST00000412945.3_Silent_p.R163R	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	171	Septin-type G.				apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)	p.R171R(1)|p.R152R(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTTTCCGGTCCCGGTACAGAT	0.522																																																	2	Substitution - coding silent(2)	kidney(2)											110.0	96.0	101.0					17																	56603081		2203	4300	6503	SO:0001819	synonymous_variant	5414			AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"""Septins"""	9165	protein-coding gene	gene with protein product	"""bradeoin"", ""septin-M"""	603696	"""peanut-like 2 (Drosophila)"""	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.513G>T	17.37:g.56603081C>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Silent	SNP	ENST00000317268.3	37	CCDS11610.1																																																																																				0.522	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445420.1		NM_080417	
SPEN	23013	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	16257994	16257995	+	Missense_Mutation	DNP	TG	TG	CA			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	T|G	T|G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr1:16257994_16257995TG>CA	ENST00000375759.3	+	11	5463_5464	c.5259_5260TG>CA	c.(5257-5262)ccTGac>ccCAac	p.D1754N		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1754					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.P1753>?(1)|p.P1753P(1)|p.D1754N(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ATCCAGAGCCTGACAGTACCCA	0.564																																																	3	Substitution - Missense(1)|Substitution - coding silent(1)|Complex(1)	kidney(3)																																								SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	Exception_encountered	1.37:g.16257994_16257995delinsCA	ENSP00000364912:p.Asp1754Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent|Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1																																																																																				0.564	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1		NM_015001	
SPEN	23013	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	16262076	16262076	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr1:16262076C>G	ENST00000375759.3	+	11	9545	c.9341C>G	c.(9340-9342)cCa>cGa	p.P3114R		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3114					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.P3114R(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGCATCCGGCCAGAAGCGCTT	0.652																																																	1	Substitution - Missense(1)	kidney(1)											56.0	51.0	53.0					1																	16262076		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.9341C>G	1.37:g.16262076C>G	ENSP00000364912:p.Pro3114Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.212725	0.39102	.	.	ENSG00000065526	ENST00000375759	T	0.10099	2.91	5.1	5.1	0.69264	.	.	.	.	.	T	0.30008	0.0751	M	0.63428	1.95	0.42698	D	0.993606	D	0.69078	0.997	D	0.66602	0.945	T	0.01140	-1.1439	9	0.37606	T	0.19	-8.9069	18.4992	0.90875	0.0:1.0:0.0:0.0	.	3114	Q96T58	MINT_HUMAN	R	3114	ENSP00000364912:P3114R	ENSP00000364912:P3114R	P	+	2	0	SPEN	16134663	0.323000	0.24643	0.986000	0.45419	0.953000	0.61014	4.117000	0.57877	2.377000	0.81083	0.491000	0.48974	CCA		0.652	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1		NM_015001	
SREBF2	6721	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	42273293	42273293	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr22:42273293C>T	ENST00000361204.4	+	8	1613	c.1447C>T	c.(1447-1449)Ctt>Ttt	p.L483F		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	483	Interaction with LMNA. {ECO:0000250}.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L483F(1)		NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CTCACGGATTCTTCTGTGTGT	0.562																																																	1	Substitution - Missense(1)	kidney(1)											135.0	130.0	132.0					22																	42273293		2203	4300	6503	SO:0001583	missense	6721			U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.1447C>T	22.37:g.42273293C>T	ENSP00000354476:p.Leu483Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	ENST00000361204.4	37	CCDS14023.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.964004	0.92791	.	.	ENSG00000198911	ENST00000361204;ENST00000444813;ENST00000457567	T	0.54866	0.55	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.71854	0.3389	L	0.58101	1.795	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.69847	-0.5034	10	0.56958	D	0.05	-16.3421	20.6227	0.99507	0.0:1.0:0.0:0.0	.	483	Q12772	SRBP2_HUMAN	F	483	ENSP00000354476:L483F	ENSP00000354476:L483F	L	+	1	0	SREBF2	40603239	0.997000	0.39634	0.996000	0.52242	0.985000	0.73830	3.140000	0.50585	2.885000	0.99019	0.643000	0.83706	CTT		0.562	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1		NM_004599	
TMEM102	284114	broad.mit.edu	37	17	7340786	7340786	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr17:7340786delG	ENST00000323206.1	+	3	1761	c.1488delG	c.(1486-1488)aagfs	p.K496fs	FGF11_ENST00000572907.1_5'Flank|RP11-104H15.7_ENST00000575310.1_RNA|RP11-104H15.8_ENST00000576615.1_RNA|RP11-104H15.9_ENST00000570444.1_RNA|FGF11_ENST00000293829.4_5'Flank|RP11-104H15.10_ENST00000575331.1_RNA|TMEM102_ENST00000396568.1_Frame_Shift_Del_p.K496fs|FGF11_ENST00000575235.1_5'Flank	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	496					apoptotic process (GO:0006915)|positive regulation of cell adhesion (GO:0045785)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell migration (GO:2000406)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|protein complex (GO:0043234)				kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				TGGCCCGCAAGGGGGGCGGTT	0.736																																																	0													2.0	2.0	2.0					17																	7340786		1084	2633	3717	SO:0001589	frameshift_variant	284114			AK094197	CCDS11104.1	17p13.1	2008-04-21			ENSG00000181284	ENSG00000181284			26722	protein-coding gene	gene with protein product		613936				12477932	Standard	NM_178518		Approved	FLJ36878	uc002ggx.1	Q8N9M5	OTTHUMG00000132901	ENST00000323206.1:c.1488delG	17.37:g.7340786delG	ENSP00000315387:p.Lys496fs	Somatic		WXS	Illumina GAIIx	Phase_I	D3DTP8	Frame_Shift_Del	DEL	ENST00000323206.1	37	CCDS11104.1																																																																																				0.736	TMEM102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256405.1		NM_178518	
TRIM23	373	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	64907630	64907630	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr5:64907630C>G	ENST00000231524.9	-	4	816	c.445G>C	c.(445-447)Gag>Cag	p.E149Q	TRIM23_ENST00000381018.3_Missense_Mutation_p.E149Q|TRIM23_ENST00000274327.7_Missense_Mutation_p.E149Q|TRIM23_ENST00000508808.1_5'Flank	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	149					GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E149Q(1)|p.E149K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		TGAGAACACTCAGAGCACAAA	0.408																																																	2	Substitution - Missense(2)	urinary_tract(1)|kidney(1)											97.0	92.0	93.0					5																	64907630		2203	4300	6503	SO:0001583	missense	373			L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	660	protein-coding gene	gene with protein product		601747	"""ADP-ribosylation factor domain protein 1, 64kDa"", ""tripartite motif-containing 23"""	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.445G>C	5.37:g.64907630C>G	ENSP00000231524:p.Glu149Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q9BZY4|Q9BZY5	Missense_Mutation	SNP	ENST00000231524.9	37	CCDS3987.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.055636	0.75960	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	T;T;T	0.45276	0.9;0.9;0.9	5.37	5.37	0.77165	Zinc finger, B-box (3);Zinc finger, C2H2 (1);	0.160378	0.56097	D	0.000028	T	0.42314	0.1197	L	0.36672	1.1	0.51482	D	0.99992	B;B;B	0.26258	0.099;0.145;0.018	B;B;B	0.33620	0.167;0.099;0.043	T	0.31613	-0.9937	10	0.52906	T	0.07	.	19.4688	0.94954	0.0:1.0:0.0:0.0	.	149;149;149	P36406;P36406-2;P36406-3	TRI23_HUMAN;.;.	Q	149	ENSP00000231524:E149Q;ENSP00000370406:E149Q;ENSP00000274327:E149Q	ENSP00000231524:E149Q	E	-	1	0	TRIM23	64943386	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.714000	0.68422	2.659000	0.90383	0.655000	0.94253	GAG		0.408	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2		NM_001656	
TSPAN31	6302	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	58140428	58140428	+	Silent	SNP	G	G	C			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr12:58140428G>C	ENST00000257910.3	+	4	643	c.369G>C	c.(367-369)ctG>ctC	p.L123L	CDK4_ENST00000551888.1_5'Flank|TSPAN31_ENST00000547472.1_Silent_p.L40L|TSPAN31_ENST00000553221.1_3'UTR|TSPAN31_ENST00000547992.1_Intron	NM_005981.3	NP_005972.1	Q12999	TSN31_HUMAN	tetraspanin 31	123					positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.L123L(1)		endometrium(1)|kidney(1)|lung(5)	7	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			GGGATGAACTGGAAAGAAGTT	0.448																																																	1	Substitution - coding silent(1)	kidney(1)											141.0	131.0	134.0					12																	58140428		2203	4300	6503	SO:0001819	synonymous_variant	6302				CCDS8952.1	12q13-q14	2013-02-14	2005-08-16	2005-08-16		ENSG00000135452		"""Tetraspanins"""	10539	protein-coding gene	gene with protein product		181035	"""sarcoma amplified sequence"""	SAS			Standard	NM_005981		Approved		uc001spt.3	Q12999		ENST00000257910.3:c.369G>C	12.37:g.58140428G>C		Somatic		WXS	Illumina HiSeq	Phase_I	O00577|Q53X76	Silent	SNP	ENST00000257910.3	37	CCDS8952.1																																																																																				0.448	TSPAN31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408778.1			
KRTAP4-6	81871	broad.mit.edu	37	17	39296278	39296278	+	Silent	SNP	G	G	A			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr17:39296278G>A	ENST00000345847.4	-	1	461	c.462C>T	c.(460-462)tgC>tgT	p.C154C		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	154	30 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament (GO:0045095)		p.C154C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						tggattcacagcaagaggggc	0.662																																																	1	Substitution - coding silent(1)	kidney(1)																																								SO:0001819	synonymous_variant	0			AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.462C>T	17.37:g.39296278G>A		Somatic		WXS	Illumina GAIIx	Phase_I	Q9BYR1	RNA	SNP	ENST00000345847.4	37	CCDS54125.1																																																																																				0.662	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			
MIR4477B	100616194	broad.mit.edu	37	9	68413605	68413606	+	RNA	DEL	CT	CT	-	rs376859471		TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr9:68413605_68413606delCT	ENST00000581659.1	+	0	0					NR_039688.1|NR_039689.1				microRNA 4477b																		TTTGCTGAAACTCTGGGGTTGA	0.609																																																	0																																												0					9	2011-09-12						"""ncRNAs / Micro RNAs"""	41898	non-coding RNA	RNA, micro							Standard	NR_039689		Approved	hsa-mir-4477b					9.37:g.68413607_68413608delCT		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	DEL	ENST00000581659.1	37																																																																																					0.609	MIR4477B-201	KNOWN	basic	miRNA	miRNA			NR_039689	
VPS11	55823	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	118940211	118940211	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr11:118940211C>G	ENST00000300793.6	+	4	435	c.393C>G	c.(391-393)ttC>ttG	p.F131L	VPS11_ENST00000527798.1_3'UTR|RP11-110I1.13_ENST00000607709.1_RNA	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	132					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.F131L(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		CTCGAATCTTCCCTGCTATTC	0.453																																																	1	Substitution - Missense(1)	kidney(1)											88.0	85.0	86.0					11																	118940211		1902	4134	6036	SO:0001583	missense	55823			AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"""RING-type (C3HC4) zinc fingers"""	14583	protein-coding gene	gene with protein product		608549	"""vacuolar protein sorting 11 (yeast homolog)"""				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.393C>G	11.37:g.118940211C>G	ENSP00000475301:p.Phe131Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Missense_Mutation	SNP	ENST00000300793.6	37																																																																																					0.453	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_021729	
ZFP64	55734	hgsc.bcm.edu;ucsc.edu	37	20	50776871	50776871	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr20:50776871delC	ENST00000216923.4	-	5	903	c.554delG	c.(553-555)agcfs	p.S185fs	ZFP64_ENST00000477786.1_5'UTR|ZFP64_ENST00000361387.2_Frame_Shift_Del_p.S185fs|ZFP64_ENST00000346617.4_Frame_Shift_Del_p.S131fs|ZFP64_ENST00000371518.2_Frame_Shift_Del_p.S185fs|ZFP64_ENST00000371515.4_Frame_Shift_Del_p.S183fs	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	185					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GTCTTTCCGGCTAAAGCACTT	0.507																																																	0													151.0	139.0	143.0					20																	50776871		2203	4300	6503	SO:0001589	frameshift_variant	55734			AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.554delG	20.37:g.50776871delC	ENSP00000216923:p.Ser185fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q9NTS7|Q9NVH4	Frame_Shift_Del	DEL	ENST00000216923.4	37	CCDS13440.1																																																																																				0.507	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1		NM_018197	
ZMIZ2	83637	broad.mit.edu	37	7	44801378	44801378	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr7:44801378C>G	ENST00000309315.4	+	11	1593	c.1470C>G	c.(1468-1470)agC>agG	p.S490R	ZMIZ2_ENST00000433667.1_Missense_Mutation_p.S458R|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.S464R|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.S490R|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.S432R	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	490	Interaction with AR.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)	p.S490R(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGCAGGTCAGCGTCAATGCCA	0.607																																					NSCLC(20;604 852 1948 16908 50522)												1	Substitution - Missense(1)	kidney(1)											80.0	81.0	81.0					7																	44801378		2203	4300	6503	SO:0001583	missense	83637			AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.1470C>G	7.37:g.44801378C>G	ENSP00000311778:p.Ser490Arg	Somatic		WXS	Illumina GAIIx	Phase_I	A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	ENST00000309315.4	37	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519237	0.85495	.	.	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	4.73	3.82	0.43975	.	0.000000	0.64402	D	0.000001	T	0.60340	0.2261	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.81914	0.992;0.98;0.995	T	0.60581	-0.7235	10	0.45353	T	0.12	-17.4912	10.8008	0.46487	0.0:0.8476:0.0:0.1524	.	464;490;432	Q8NF64-2;Q8NF64;Q8NF64-3	.;ZMIZ2_HUMAN;.	R	432;490;490;458;464;490	ENSP00000409648:S432R;ENSP00000311778:S490R;ENSP00000414723:S490R;ENSP00000396601:S458R;ENSP00000265346:S464R	ENSP00000265346:S464R	S	+	3	2	ZMIZ2	44767903	0.987000	0.35691	1.000000	0.80357	0.989000	0.77384	0.276000	0.18716	2.444000	0.82710	0.655000	0.94253	AGC		0.607	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1		NM_031449	
ZNF398	57541	broad.mit.edu	37	7	148876816	148876816	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr7:148876816T>A	ENST00000475153.1	+	6	2119	c.1852T>A	c.(1852-1854)Tct>Act	p.S618T	ZNF398_ENST00000426851.2_Missense_Mutation_p.S447T|ZNF398_ENST00000540950.1_Missense_Mutation_p.S623T|ZNF398_ENST00000335901.4_Missense_Mutation_p.S447T|ZNF398_ENST00000483892.1_Missense_Mutation_p.S447T|ZNF398_ENST00000420008.2_Missense_Mutation_p.S447T|ZNF398_ENST00000491174.1_Missense_Mutation_p.S447T			Q8TD17	ZN398_HUMAN	zinc finger protein 398	618					positive regulation of transcription, DNA-templated (GO:0045893)|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.S618T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			GCTTGAAACTTCTGGCCTGGG	0.552																																																	1	Substitution - Missense(1)	kidney(1)											52.0	58.0	56.0					7																	148876816		2203	4300	6503	SO:0001583	missense	57541			AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"""Zinc fingers, C2H2-type"", ""-"""	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.1852T>A	7.37:g.148876816T>A	ENSP00000420418:p.Ser618Thr	Somatic		WXS	Illumina GAIIx	Phase_I	A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Missense_Mutation	SNP	ENST00000475153.1	37	CCDS5894.1	.	.	.	.	.	.	.	.	.	.	T	10.33	1.320543	0.23994	.	.	ENSG00000197024	ENST00000426851;ENST00000420008;ENST00000475153;ENST00000483892;ENST00000491174;ENST00000540950;ENST00000335901	T;T;T;T;T;T;T	0.06687	3.27;3.27;3.36;3.27;3.27;3.37;3.27	4.69	-1.11	0.09840	.	0.284575	0.25660	N	0.029159	T	0.03434	0.0099	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.33929	-0.9849	10	0.62326	D	0.03	-4.3425	0.545	0.00652	0.1792:0.1978:0.1642:0.4587	.	623;618	B4DXA9;Q8TD17	.;ZN398_HUMAN	T	447;447;618;447;447;623;447	ENSP00000389972:S447T;ENSP00000416751:S447T;ENSP00000420418:S618T;ENSP00000418564:S447T;ENSP00000419391:S447T;ENSP00000439340:S623T;ENSP00000338984:S447T	ENSP00000338984:S447T	S	+	1	0	ZNF398	148507749	0.000000	0.05858	0.874000	0.34290	0.903000	0.53119	-0.465000	0.06680	0.008000	0.14787	0.529000	0.55759	TCT		0.552	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352722.2			
ZNF407	55628	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	72346178	72346178	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr18:72346178A>C	ENST00000299687.5	+	1	3203	c.3203A>C	c.(3202-3204)gAg>gCg	p.E1068A	ZNF407_ENST00000582337.1_Missense_Mutation_p.E1068A|ZNF407_ENST00000577538.1_Missense_Mutation_p.E1068A|ZNF407_ENST00000309902.6_Missense_Mutation_p.E1068A	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1068					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E1068A(2)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GCAGCAACAGAGAAGCACAAA	0.428																																																	2	Substitution - Missense(2)	kidney(2)											77.0	75.0	76.0					18																	72346178		2037	4206	6243	SO:0001583	missense	55628			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.3203A>C	18.37:g.72346178A>C	ENSP00000299687:p.Glu1068Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.399298	0.83120	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.26518	1.73;2.99	6.16	6.16	0.99307	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);	0.066071	0.64402	D	0.000020	T	0.42810	0.1219	L	0.32530	0.975	0.34635	D	0.720011	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.993;0.984	T	0.55134	-0.8188	10	0.62326	D	0.03	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	1068;1068;1068	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	A	1068	ENSP00000299687:E1068A;ENSP00000310359:E1068A	ENSP00000299687:E1068A	E	+	2	0	ZNF407	70475166	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.962000	0.93254	0.719000	0.32188	0.650000	0.86243	GAG		0.428	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1		NM_017757	
ZNF491	126069	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	11917136	11917136	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5158-01A-01D-1421-08	TCGA-B8-5158-10A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d730534-98e7-464e-945c-5964cec5362a	696dff10-52f1-4ab8-8d28-7b33864e1cea	g.chr19:11917136T>A	ENST00000323169.5	+	3	699	c.368T>A	c.(367-369)gTa>gAa	p.V123E	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	123					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.V123E(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						AGATATATGGTAACGCACAGT	0.398																																																	1	Substitution - Missense(1)	kidney(1)											91.0	92.0	91.0					19																	11917136		2203	4300	6503	SO:0001583	missense	126069			AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"""Zinc fingers, C2H2-type"""	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.368T>A	19.37:g.11917136T>A	ENSP00000313443:p.Val123Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q3MJ35|Q8NAT8	Missense_Mutation	SNP	ENST00000323169.5	37	CCDS12267.1	.	.	.	.	.	.	.	.	.	.	t	9.848	1.192895	0.21954	.	.	ENSG00000177599	ENST00000323169;ENST00000455048;ENST00000450087	T;T	0.17370	2.44;2.28	0.914	-0.367	0.12541	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07188	0.0182	N	0.04148	-0.265	0.09310	N	0.999998	B	0.28636	0.218	B	0.31390	0.129	T	0.33752	-0.9856	9	0.72032	D	0.01	.	3.1434	0.06463	0.2339:0.0:0.4679:0.2981	.	123	Q8N8L2	ZN491_HUMAN	E	123	ENSP00000313443:V123E;ENSP00000392176:V123E	ENSP00000313443:V123E	V	+	2	0	ZNF491	11778136	0.000000	0.05858	0.053000	0.19242	0.643000	0.38383	-4.253000	0.00265	-0.187000	0.10516	0.418000	0.28097	GTA		0.398	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1		NM_152356	
