#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
ACSL4	2182	hgsc.bcm.edu;ucsc.edu	37	X	108912271	108912271	+	Silent	SNP	A	A	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chrX:108912271A>G	ENST00000469796.2	-	10	1653	c.1257T>C	c.(1255-1257)ctT>ctC	p.L419L	ACSL4_ENST00000348502.6_Silent_p.L378L|ACSL4_ENST00000340800.2_Silent_p.L419L			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	419					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	ACAGATTGCAAAGAGGTGCAT	0.318																																					Pancreas(188;358 2127 38547 41466 45492)												0													136.0	130.0	132.0					X																	108912271		2203	4297	6500	SO:0001819	synonymous_variant	2182			BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"""Acyl-CoA synthetase family"""	3571	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", "" long-chain fatty-acid-Coenzyme A ligase 4"""	300157	"""fatty-acid-Coenzyme A ligase, long-chain 4"", ""mental retardation, X-linked 63"", ""mental retardation, X-linked 68"""	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.1257T>C	X.37:g.108912271A>G		Somatic		WXS	SOLID	Phase_I	D3DUY2|O60848|O60849|Q5JWV8	Silent	SNP	ENST00000469796.2	37	CCDS14548.1																																																																																				0.318	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2		NM_004458	
AHNAK2	113146	hgsc.bcm.edu	37	14	105406727	105406727	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr14:105406727A>G	ENST00000333244.5	-	7	15180	c.15061T>C	c.(15061-15063)Ttt>Ctt	p.F5021L	AHNAK2_ENST00000557457.1_Missense_Mutation_p.F19L	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5021						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCATGGCAAAGCCAGGCTTT	0.547																																																	0													104.0	105.0	105.0					14																	105406727		2012	4182	6194	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.15061T>C	14.37:g.105406727A>G	ENSP00000353114:p.Phe5021Leu	Somatic		WXS	SOLID	Phase_I	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	A	14.44	2.535270	0.45176	.	.	ENSG00000185567	ENST00000557457;ENST00000333244	T;T	0.02103	4.45;5.4	4.15	0.262	0.15597	.	.	.	.	.	T	0.01905	0.0060	L	0.41415	1.275	0.09310	N	1	B	0.30146	0.27	B	0.28139	0.086	T	0.46978	-0.9152	9	0.07990	T	0.79	.	7.165	0.25685	0.7077:0.0:0.2923:0.0	.	5021	Q8IVF2	AHNK2_HUMAN	L	19;5021	ENSP00000450998:F19L;ENSP00000353114:F5021L	ENSP00000353114:F5021L	F	-	1	0	AHNAK2	104477772	0.030000	0.19436	0.000000	0.03702	0.003000	0.03518	0.892000	0.28322	0.057000	0.16193	0.459000	0.35465	TTT		0.547	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1		NM_138420	
ALPK2	115701	hgsc.bcm.edu;ucsc.edu	37	18	56171280	56171280	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr18:56171280C>A	ENST00000361673.3	-	11	6343	c.6130G>T	c.(6130-6132)Gat>Tat	p.D2044Y		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	2044	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TCTTTCCCATCCCTGATGGAA	0.443																																																	0													189.0	181.0	184.0					18																	56171280		2203	4300	6503	SO:0001583	missense	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.6130G>T	18.37:g.56171280C>A	ENSP00000354991:p.Asp2044Tyr	Somatic		WXS	SOLID	Phase_I	Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395619	0.83011	.	.	ENSG00000198796	ENST00000361673	T	0.06218	3.33	5.63	5.63	0.86233	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.070034	0.51477	D	0.000081	T	0.21307	0.0513	L	0.47716	1.5	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	T	0.00059	-1.2165	10	0.62326	D	0.03	-11.7448	19.3517	0.94389	0.0:1.0:0.0:0.0	.	2044	Q86TB3	ALPK2_HUMAN	Y	2044	ENSP00000354991:D2044Y	ENSP00000354991:D2044Y	D	-	1	0	ALPK2	54322260	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.426000	0.80270	2.680000	0.91292	0.644000	0.83932	GAT		0.443	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1		NM_052947	
ANAPC1	64682	hgsc.bcm.edu;ucsc.edu	37	2	112638368	112638370	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	ATC	ATC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr2:112638368_112638370delATC	ENST00000341068.3	-	2	805_807	c.33_35delGAT	c.(31-36)atgatt>att	p.M11del	ANAPC1_ENST00000489177.1_5'UTR	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	11					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CCTTGCTGCAATCATCGTTGTCC	0.433																																																	0																																										SO:0001651	inframe_deletion	64682			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.33_35delGAT	2.37:g.112638371_112638373delATC	ENSP00000339109:p.Met11del	Somatic		WXS	SOLID	Phase_I	Q2M3H8|Q9BSE6|Q9H8D0	In_Frame_Del	DEL	ENST00000341068.3	37	CCDS2093.1																																																																																				0.433	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2		NM_022662	
AP2B1	163	hgsc.bcm.edu;ucsc.edu	37	17	33921080	33921080	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr17:33921080A>C	ENST00000262325.7	+	2	584	c.31A>C	c.(31-33)Aaa>Caa	p.K11Q	AP2B1_ENST00000538556.1_5'UTR|AP2B1_ENST00000589344.1_Missense_Mutation_p.K11Q|AP2B1_ENST00000312678.8_Missense_Mutation_p.K11Q|AP2B1_ENST00000537622.2_Missense_Mutation_p.K11Q|AP2B1_ENST00000592545.1_Missense_Mutation_p.K11Q	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	11					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CACAACCAATAAAAAAGGTAA	0.353																																																	0													47.0	44.0	45.0					17																	33921080		2199	4297	6496	SO:0001583	missense	163			M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.31A>C	17.37:g.33921080A>C	ENSP00000262325:p.Lys11Gln	Somatic		WXS	SOLID	Phase_I	A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	ENST00000262325.7	37	CCDS32622.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.117551	0.77323	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000537622	T;T;T	0.13196	2.61;2.61;2.61	4.28	4.28	0.50868	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.39410	0.1077	M	0.86573	2.825	0.80722	D	1	P;P;B	0.48911	0.917;0.68;0.443	P;P;B	0.62649	0.905;0.507;0.373	T	0.41251	-0.9519	10	0.66056	D	0.02	-2.6475	12.6688	0.56857	1.0:0.0:0.0:0.0	.	11;11;11	B4DWG4;P63010;P63010-2	.;AP2B1_HUMAN;.	Q	11	ENSP00000262325:K11Q;ENSP00000314414:K11Q;ENSP00000437413:K11Q	ENSP00000262325:K11Q	K	+	1	0	AP2B1	30945193	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.977000	0.88081	1.928000	0.55862	0.383000	0.25322	AAA		0.353	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			
AP3B2	8120	hgsc.bcm.edu	37	15	83332659	83332660	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr15:83332659_83332660insA	ENST00000261722.3	-	19	2479_2480	c.2272_2273insT	c.(2272-2274)tcafs	p.S758fs	AP3B2_ENST00000535348.1_Frame_Shift_Ins_p.S726fs|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Frame_Shift_Ins_p.S777fs	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	758	Glu/Ser-rich.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			ATCAGAGGATGACGCTTCTCCT	0.545																																																	0																																										SO:0001589	frameshift_variant	8120			U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.2273dupT	15.37:g.83332660_83332660dupA	ENSP00000261722:p.Ser758fs	Somatic		WXS	SOLID	Phase_I	A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Frame_Shift_Ins	INS	ENST00000261722.3	37	CCDS45331.1																																																																																				0.545	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			
APBA2	321	hgsc.bcm.edu;ucsc.edu	37	15	29385399	29385399	+	Silent	SNP	G	G	T	rs370646611		TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr15:29385399G>T	ENST00000558402.1	+	8	1790	c.1191G>T	c.(1189-1191)gcG>gcT	p.A397A	APBA2_ENST00000558330.1_Silent_p.A397A|APBA2_ENST00000411764.1_Silent_p.A397A|APBA2_ENST00000561069.1_Silent_p.A397A|APBA2_ENST00000558259.1_Silent_p.A397A			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	397	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		TGATGCAAGCGCAGGAGGCCG	0.592																																																	0													65.0	59.0	61.0					15																	29385399		2203	4300	6503	SO:0001819	synonymous_variant	321			AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1191G>T	15.37:g.29385399G>T		Somatic		WXS	SOLID	Phase_I	E9PGI4|O60571|Q5XKC0	Silent	SNP	ENST00000558402.1	37	CCDS10022.1																																																																																				0.592	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3		NM_005503	
ATP2A1	487	hgsc.bcm.edu	37	16	28909647	28909647	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr16:28909647G>T	ENST00000357084.3	+	14	1906	c.1639G>T	c.(1639-1641)Gcg>Tcg	p.A547S	ATP2A1_ENST00000395503.4_Missense_Mutation_p.A547S|ATP2A1_ENST00000536376.1_Missense_Mutation_p.A422S	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	547					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						AAAGATCATGGCGGTGATCAA	0.652																																																	0													56.0	62.0	60.0					16																	28909647		2197	4300	6497	SO:0001583	missense	487				CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1639G>T	16.37:g.28909647G>T	ENSP00000349595:p.Ala547Ser	Somatic		WXS	SOLID	Phase_I	A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	G	2.124	-0.400846	0.04865	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.82619	-1.63;-1.63;-1.63	5.43	-9.36	0.00629	ATPase, cation-transporting, domain N (1);ATPase, P-type, cytoplasmic domain N (1);	0.604497	0.17647	N	0.166834	T	0.58666	0.2138	L	0.27975	0.815	0.28813	N	0.898119	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.59473	-0.7448	10	0.02654	T	1	.	8.8327	0.35093	0.3466:0.0:0.4531:0.2002	.	422;547;547	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	S	547;547;584;422	ENSP00000349595:A547S;ENSP00000378879:A547S;ENSP00000443101:A422S	ENSP00000349595:A547S	A	+	1	0	ATP2A1	28817148	0.000000	0.05858	0.009000	0.14445	0.530000	0.34684	-1.209000	0.03002	-1.051000	0.03226	-0.894000	0.02916	GCG		0.652	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2		NM_004320	
BIN1	274	hgsc.bcm.edu	37	2	127808049	127808049	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr2:127808049A>C	ENST00000316724.5	-	18	2033	c.1622T>G	c.(1621-1623)cTc>cGc	p.L541R	BIN1_ENST00000357970.3_Missense_Mutation_p.L498R|BIN1_ENST00000466111.1_5'UTR|BIN1_ENST00000393041.3_Missense_Mutation_p.L423R|BIN1_ENST00000259238.4_Missense_Mutation_p.L445R|BIN1_ENST00000351659.3_Missense_Mutation_p.L454R|BIN1_ENST00000352848.3_Missense_Mutation_p.L402R|BIN1_ENST00000376113.2_Missense_Mutation_p.L372R|BIN1_ENST00000348750.4_Missense_Mutation_p.L357R|BIN1_ENST00000409400.1_Missense_Mutation_p.L387R|BIN1_ENST00000393040.3_Missense_Mutation_p.L430R|BIN1_ENST00000346226.3_Missense_Mutation_p.L466R	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	541	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		ACCAGCCTTGAGCTGCAGCTC	0.642											OREG0014962	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													131.0	102.0	112.0					2																	127808049		2203	4300	6503	SO:0001583	missense	274			U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"""amphiphysin II"""	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.1622T>G	2.37:g.127808049A>C	ENSP00000316779:p.Leu541Arg	Somatic	1560	WXS	SOLID	Phase_I	O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Missense_Mutation	SNP	ENST00000316724.5	37	CCDS2138.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.704621	0.88924	.	.	ENSG00000136717	ENST00000376113;ENST00000357970;ENST00000393040;ENST00000348750;ENST00000259238;ENST00000346226;ENST00000393041;ENST00000351659;ENST00000352848;ENST00000316724;ENST00000409400	T;T;T;T;T;T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	4.58	4.58	0.56647	Src homology-3 domain (4);Variant SH3 (1);	0.063541	0.64402	D	0.000006	D	0.84642	0.5517	H	0.96518	3.835	0.58432	D	0.99999	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.993;0.999;1.0;0.989;1.0;0.986;0.999;0.989;1.0;1.0;0.999;0.998;1.0	D	0.89218	0.3569	10	0.87932	D	0	-23.7089	13.1099	0.59267	1.0:0.0:0.0:0.0	.	418;333;423;387;430;466;454;402;445;498;372;357;541	B7Z2Z2;B7Z6Y2;O00499-4;O00499-7;O00499-6;O00499-2;O00499-3;O00499-8;O00499-11;O00499-5;O00499-10;O00499-9;O00499	.;.;.;.;.;.;.;.;.;.;.;.;BIN1_HUMAN	R	372;498;430;357;445;466;423;454;402;541;387	ENSP00000365281:L372R;ENSP00000350654:L498R;ENSP00000376760:L430R;ENSP00000259237:L357R;ENSP00000259238:L445R;ENSP00000315411:L466R;ENSP00000376761:L423R;ENSP00000315388:L454R;ENSP00000315284:L402R;ENSP00000316779:L541R;ENSP00000386797:L387R	ENSP00000259238:L445R	L	-	2	0	BIN1	127524519	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.475000	0.60210	1.942000	0.56320	0.454000	0.30748	CTC		0.642	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254298.2		NM_139343	
CCDC186	55088	hgsc.bcm.edu;ucsc.edu	37	10	115895715	115895715	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr10:115895715C>G	ENST00000369287.3	-	9	1713	c.1447G>C	c.(1447-1449)Gaa>Caa	p.E483Q	C10orf118_ENST00000543782.1_Missense_Mutation_p.E81Q	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		483										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TCTTCTAGTTCCTTTATTTTG	0.328																																																	0													161.0	147.0	152.0					10																	115895715		2203	4300	6503	SO:0001583	missense	55088																														ENST00000369287.3:c.1447G>C	10.37:g.115895715C>G	ENSP00000358293:p.Glu483Gln	Somatic		WXS	SOLID	Phase_I	Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	ENST00000369287.3	37	CCDS7587.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.1|24.1	4.488082|4.488082	0.84854|0.84854	.|.	.|.	ENSG00000165813|ENSG00000165813	ENST00000369287;ENST00000543782;ENST00000430353|ENST00000428953	T;T|.	0.58210|.	0.35;0.35|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72581|0.72581	0.3478|0.3478	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.85130|.	0.996;0.997|.	T|T	0.69774|0.69774	-0.5054|-0.5054	10|5	0.45353|.	T|.	0.12|.	.|.	19.1558|19.1558	0.93510|0.93510	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	81;483|.	F6VCB7;Q7Z3E2|.	.;CJ118_HUMAN|.	Q|A	483;81;589|111	ENSP00000358293:E483Q;ENSP00000441576:E81Q|.	ENSP00000358293:E483Q|.	E|G	-|-	1|2	0|0	C10orf118|C10orf118	115885705|115885705	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.316000|7.316000	0.79007|0.79007	2.597000|2.597000	0.87782|0.87782	0.549000|0.549000	0.68633|0.68633	GAA|GGA		0.328	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1			
CCDC120	90060	hgsc.bcm.edu	37	X	48919829	48919829	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chrX:48919829A>G	ENST00000376396.3	+	3	241	c.22A>G	c.(22-24)Atc>Gtc	p.I8V	CCDC120_ENST00000496529.2_Missense_Mutation_p.I8V|CCDC120_ENST00000603986.1_Missense_Mutation_p.I43V|CCDC120_ENST00000536628.2_Intron|CCDC120_ENST00000597275.1_Missense_Mutation_p.I8V|CCDC120_ENST00000422185.2_Missense_Mutation_p.I8V	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	8										breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						AGGTCAGCTGATCAGCTCTCC	0.567																																																	0													148.0	94.0	112.0					X																	48919829		2203	4300	6503	SO:0001583	missense	90060			BC008769	CCDS14316.1, CCDS55413.1, CCDS55414.1, CCDS55414.2	Xp11.23	2008-02-05			ENSG00000147144	ENSG00000147144			28910	protein-coding gene	gene with protein product						12477932	Standard	NM_033626		Approved	JM11	uc011mmr.3	Q96HB5	OTTHUMG00000021509	ENST00000376396.3:c.22A>G	X.37:g.48919829A>G	ENSP00000365577:p.Ile8Val	Somatic		WXS	SOLID	Phase_I	B4DFC1|B4DTU2|F5GZU4	Missense_Mutation	SNP	ENST00000376396.3	37	CCDS14316.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.138036	0.77775	.	.	ENSG00000147144	ENST00000376396;ENST00000422185	.	.	.	5.51	4.34	0.51931	.	0.098704	0.44688	N	0.000428	T	0.47358	0.1441	L	0.38175	1.15	0.80722	D	1	B;B	0.32245	0.361;0.361	B;B	0.36666	0.23;0.23	T	0.36286	-0.9754	9	0.38643	T	0.18	-4.2591	8.3674	0.32395	0.9077:0.0:0.0923:0.0	.	43;8	B4DFC1;Q96HB5	.;CC120_HUMAN	V	8	.	ENSP00000365577:I8V	I	+	1	0	CCDC120	48806773	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.565000	0.53798	0.732000	0.32470	0.356000	0.21956	ATC		0.567	CCDC120-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056528.1		NM_033626	
CCDC25	55246	hgsc.bcm.edu;ucsc.edu	37	8	27622729	27622729	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr8:27622729T>C	ENST00000356537.4	-	2	161	c.68A>G	c.(67-69)aAa>aGa	p.K23R	CCDC25_ENST00000539095.1_5'UTR|CCDC25_ENST00000522915.1_Intron	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25	23						extracellular vesicular exosome (GO:0070062)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		ACTTTCATATTTATCTTTTCC	0.323																																																	0													55.0	53.0	54.0					8																	27622729		1787	4058	5845	SO:0001583	missense	55246			AK001715	CCDS6062.2	8p21.1	2006-09-20			ENSG00000147419	ENSG00000147419			25591	protein-coding gene	gene with protein product						12477932	Standard	NM_018246		Approved	FLJ10853	uc003xgc.3	Q86WR0	OTTHUMG00000132173	ENST00000356537.4:c.68A>G	8.37:g.27622729T>C	ENSP00000348933:p.Lys23Arg	Somatic		WXS	SOLID	Phase_I	Q0P663|Q96SI2|Q9NV98	Missense_Mutation	SNP	ENST00000356537.4	37	CCDS6062.2	.	.	.	.	.	.	.	.	.	.	T	21.8	4.197004	0.79015	.	.	ENSG00000147419	ENST00000356537	.	.	.	6.01	6.01	0.97437	Domain of unknown function DUF814 (1);	0.000000	0.85682	D	0.000000	T	0.79341	0.4429	M	0.91561	3.22	0.80722	D	1	D	0.53885	0.963	P	0.55615	0.78	D	0.84070	0.0379	9	0.87932	D	0	-23.8622	12.9203	0.58228	0.0:0.0:0.0:1.0	.	23	Q86WR0	CCD25_HUMAN	R	23	.	ENSP00000348933:K23R	K	-	2	0	CCDC25	27678648	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.767000	0.62286	2.307000	0.77673	0.528000	0.53228	AAA		0.323	CCDC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255224.1		NM_018246	
CD2AP	23607	hgsc.bcm.edu	37	6	47541956	47541956	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr6:47541956G>C	ENST00000359314.5	+	6	1154	c.698G>C	c.(697-699)aGt>aCt	p.S233T		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	233					mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AGAACATCCAGTAGTGAAACA	0.358																																																	0													86.0	92.0	90.0					6																	47541956		2203	4300	6503	SO:0001583	missense	23607			AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.698G>C	6.37:g.47541956G>C	ENSP00000352264:p.Ser233Thr	Somatic		WXS	SOLID	Phase_I	A6NL34|Q5VYA3|Q9UG97	Missense_Mutation	SNP	ENST00000359314.5	37	CCDS34472.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.777436	0.49786	.	.	ENSG00000198087	ENST00000359314	T	0.27256	1.68	5.97	3.2	0.36748	.	2.195920	0.01655	N	0.024767	T	0.16642	0.0400	M	0.70275	2.135	0.39354	D	0.965809	B	0.22003	0.063	B	0.25884	0.064	T	0.15925	-1.0420	10	0.41790	T	0.15	-2.9591	7.8474	0.29433	0.1328:0.2489:0.6183:0.0	.	233	Q9Y5K6	CD2AP_HUMAN	T	233	ENSP00000352264:S233T	ENSP00000352264:S233T	S	+	2	0	CD2AP	47649915	1.000000	0.71417	0.971000	0.41717	0.996000	0.88848	3.289000	0.51747	0.408000	0.25621	0.591000	0.81541	AGT		0.358	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040817.2			
CNOT1	23019	hgsc.bcm.edu	37	16	58577565	58577565	+	Silent	SNP	A	A	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr16:58577565A>G	ENST00000317147.5	-	31	4712	c.4380T>C	c.(4378-4380)ccT>ccC	p.P1460P	CNOT1_ENST00000245138.4_Silent_p.P311P|CNOT1_ENST00000569240.1_Silent_p.P1455P|CNOT1_ENST00000441024.2_Silent_p.P1460P	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1460	Interaction with CNOT6, CNOT6L, CNOT7 and CNOT8.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TCATGAGCAAAGGTTCCCTGC	0.428																																																	0													150.0	129.0	136.0					16																	58577565		2198	4300	6498	SO:0001819	synonymous_variant	23019			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.4380T>C	16.37:g.58577565A>G		Somatic		WXS	SOLID	Phase_I	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Silent	SNP	ENST00000317147.5	37	CCDS10799.1																																																																																				0.428	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3		NM_016284	
CPSF6	11052	hgsc.bcm.edu;ucsc.edu	37	12	69644959	69644959	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr12:69644959A>G	ENST00000435070.2	+	2	221	c.111A>G	c.(109-111)atA>atG	p.I37M	CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Missense_Mutation_p.I37M|CPSF6_ENST00000550987.1_3'UTR|CPSF6_ENST00000456847.3_Missense_Mutation_p.I37M	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	37					mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			ACGATGTCATATCTCCATCTG	0.408																																																	0													84.0	76.0	79.0					12																	69644959		2203	4300	6503	SO:0001583	missense	11052			X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"""RNA binding motif (RRM) containing"""	13871	protein-coding gene	gene with protein product	"""cleavage factor Im complex 68 kDa subunit"""	604979	"""cleavage and polyadenylation specific factor 6, 68kD subunit"""			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.111A>G	12.37:g.69644959A>G	ENSP00000391774:p.Ile37Met	Somatic		WXS	SOLID	Phase_I	A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	ENST00000435070.2	37	CCDS8988.1	.	.	.	.	.	.	.	.	.	.	A	17.30	3.354787	0.61293	.	.	ENSG00000111605	ENST00000435070;ENST00000456847;ENST00000266679	.	.	.	4.73	2.78	0.32641	.	0.000000	0.85682	D	0.000000	T	0.67720	0.2923	M	0.64404	1.975	0.80722	D	1	D;P	0.60575	0.988;0.943	D;D	0.69654	0.965;0.924	T	0.64782	-0.6326	8	.	.	.	-2.4128	8.8002	0.34905	0.2893:0.6355:0.0:0.0752	.	37;37	Q16630-2;Q16630	.;CPSF6_HUMAN	M	37	.	.	I	+	3	3	CPSF6	67931226	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.356000	0.34079	0.592000	0.29728	0.460000	0.39030	ATA		0.408	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1		NM_007007	
CXorf66	347487	hgsc.bcm.edu	37	X	139038424	139038424	+	Silent	SNP	A	A	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chrX:139038424A>G	ENST00000370540.1	-	3	740	c.717T>C	c.(715-717)ccT>ccC	p.P239P		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	239						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						AATGTTTGGGAGGCTTAGCCA	0.433																																																	0													163.0	153.0	157.0					X																	139038424		2203	4300	6503	SO:0001819	synonymous_variant	347487				CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"""secreted glycoprotein, X-linked"""					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.717T>C	X.37:g.139038424A>G		Somatic		WXS	SOLID	Phase_I		Silent	SNP	ENST00000370540.1	37	CCDS35411.1																																																																																				0.433	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058572.1		NM_001013403	
CYP2J2	1573	hgsc.bcm.edu	37	1	60392210	60392210	+	Splice_Site	SNP	A	A	T			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr1:60392210A>T	ENST00000371204.3	-	1	252	c.209T>A	c.(208-210)cTg>cAg	p.L70Q		NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	70					arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	CACTCCTACCAGCTGAACCTC	0.627																																																	0													55.0	57.0	56.0					1																	60392210		2203	4300	6503	SO:0001630	splice_region_variant	1573			BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"""Cytochrome P450s"""	2634	protein-coding gene	gene with protein product		601258	"""cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"""			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.210+1T>A	1.37:g.60392210A>T		Somatic		WXS	SOLID	Phase_I	B2RD33|Q8TF13	Missense_Mutation	SNP	ENST00000371204.3	37	CCDS613.1	.	.	.	.	.	.	.	.	.	.	A	5.568	0.289559	0.10567	.	.	ENSG00000134716	ENST00000371204	T	0.66815	-0.23	5.31	-5.98	0.02220	.	1.077840	0.06922	N	0.809591	T	0.16428	0.0395	N	0.00037	-2.525	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.27739	-1.0065	10	0.32370	T	0.25	.	1.2077	0.01898	0.2425:0.3429:0.1295:0.2851	.	70	P51589	CP2J2_HUMAN	Q	70	ENSP00000360247:L70Q	ENSP00000360247:L70Q	L	-	2	0	CYP2J2	60164798	0.000000	0.05858	0.004000	0.12327	0.005000	0.04900	-3.166000	0.00575	-1.337000	0.02236	-2.613000	0.00159	CTG		0.627	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024940.1		NM_000775	Missense_Mutation
CYP4F12	66002	hgsc.bcm.edu;ucsc.edu	37	19	15794425	15794425	+	Missense_Mutation	SNP	A	A	G	rs116788636|rs386807235	byFrequency	TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr19:15794425A>G	ENST00000550308.1	+	7	1150	c.770A>G	c.(769-771)cAc>cGc	p.H257R	CYP4F12_ENST00000324632.10_Missense_Mutation_p.H257R	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	257					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	CGGCGCTTCCACAGGGCCTGC	0.547													.|||	73	0.0145767	0.0522	0.0043	5008	,	,		20966	0.0		0.001	False		,,,				2504	0.0																0								A	ARG/HIS	173,4223		0,173,2025	79.0	81.0	80.0		770	-4.9	0.1	19	dbSNP_132	80	1,8589		0,1,4294	no	missense	CYP4F12	NM_023944.3	29	0,174,6319	GG,GA,AA		0.0116,3.9354,1.3399	benign	257/525	15794425	174,12812	2198	4295	6493	SO:0001583	missense	66002			AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.770A>G	19.37:g.15794425A>G	ENSP00000448998:p.His257Arg	Somatic		WXS	SOLID	Phase_I	E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	CCDS42517.1	20	0.009157509157509158	18	0.036585365853658534	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	.	0.001	-3.865349	0.00003	0.039354	1.16E-4	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.67865	-0.29;-0.29	2.47	-4.94	0.03057	.	1.089430	0.07278	N	0.870346	T	0.05090	0.0136	N	0.00368	-1.59	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.11542	-1.0583	10	0.02654	T	1	.	5.3926	0.16251	0.2262:0.0:0.5255:0.2483	.	257	Q9HCS2	CP4FC_HUMAN	R	257	ENSP00000448998:H257R;ENSP00000321821:H257R	ENSP00000321821:H257R	H	+	2	0	CYP4F12	15655425	0.000000	0.05858	0.056000	0.19401	0.005000	0.04900	-0.089000	0.11180	-1.586000	0.01632	-4.406000	0.00006	CAC		0.547	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			
DIAPH3	81624	hgsc.bcm.edu	37	13	60616944	60616944	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr13:60616944T>G	ENST00000400324.4	-	5	726	c.506A>C	c.(505-507)aAg>aCg	p.K169T	DIAPH3_ENST00000400330.1_Missense_Mutation_p.K169T|DIAPH3-AS1_ENST00000435636.1_RNA|DIAPH3-AS1_ENST00000422052.1_RNA|DIAPH3_ENST00000400320.1_Missense_Mutation_p.K123T|DIAPH3_ENST00000400319.1_Missense_Mutation_p.K99T|DIAPH3_ENST00000377908.2_Missense_Mutation_p.K158T|DIAPH3-AS1_ENST00000432995.1_RNA|DIAPH3_ENST00000267215.4_Missense_Mutation_p.K169T	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	169	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TCGGCTTCTCTTAAGACTTCC	0.398																																																	0													77.0	73.0	74.0					13																	60616944		1821	4073	5894	SO:0001583	missense	81624			AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.506A>C	13.37:g.60616944T>G	ENSP00000383178:p.Lys169Thr	Somatic		WXS	SOLID	Phase_I	A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	T	17.63	3.438360	0.62955	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000453990	D;D;D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59;-2.59;-2.59	5.65	4.27	0.50696	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.106361	0.64402	D	0.000005	D	0.90473	0.7016	M	0.72118	2.19	0.29857	N	0.827958	P;P;P;P	0.48998	0.627;0.918;0.866;0.822	B;P;P;P	0.54401	0.219;0.751;0.527;0.583	D	0.86327	0.1696	10	0.49607	T	0.09	.	7.0814	0.25234	0.0:0.2216:0.0:0.7784	.	99;123;158;169	A8MYX0;C9JL55;C9JDG1;Q9NSV4	.;.;.;DIAP3_HUMAN	T	169;169;158;123;99;158;99;123;169;169	ENSP00000383178:K169T;ENSP00000383184:K169T;ENSP00000367141:K158T;ENSP00000383173:K99T;ENSP00000383174:K123T;ENSP00000267215:K169T	ENSP00000267215:K169T	K	-	2	0	DIAPH3	59514945	1.000000	0.71417	0.984000	0.44739	0.603000	0.37013	1.611000	0.36879	0.773000	0.33404	0.477000	0.44152	AAG		0.398	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3		NM_001042517	
DIP2B	57609	hgsc.bcm.edu	37	12	51072503	51072503	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr12:51072503C>G	ENST00000301180.5	+	8	992	c.958C>G	c.(958-960)Cag>Gag	p.Q320E		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	320						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GGAGGGACGGCAGATGACCCC	0.517																																																	0													79.0	73.0	75.0					12																	51072503		2203	4300	6503	SO:0001583	missense	57609			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.958C>G	12.37:g.51072503C>G	ENSP00000301180:p.Gln320Glu	Somatic		WXS	SOLID	Phase_I	Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	C	8.637	0.894977	0.17613	.	.	ENSG00000066084	ENST00000455310;ENST00000301180	T	0.47528	0.84	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.34629	0.0904	L	0.39633	1.23	0.80722	D	1	B;P	0.35612	0.004;0.512	B;B	0.30251	0.016;0.113	T	0.28618	-1.0038	10	0.02654	T	1	-11.7826	18.2696	0.90064	0.0:1.0:0.0:0.0	.	320;330	Q9P265;E9PHD6	DIP2B_HUMAN;.	E	330;320	ENSP00000301180:Q320E	ENSP00000301180:Q320E	Q	+	1	0	DIP2B	49358770	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.699000	0.61796	2.619000	0.88677	0.467000	0.42956	CAG		0.517	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1		NM_173602	
DNAH7	56171	hgsc.bcm.edu	37	2	196753531	196753531	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr2:196753531G>A	ENST00000312428.6	-	32	5321	c.5221C>T	c.(5221-5223)Cct>Tct	p.P1741S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1741	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACAGTGGCAGGGGAAGCAACT	0.323																																																	0													67.0	67.0	67.0					2																	196753531		1853	4101	5954	SO:0001583	missense	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.5221C>T	2.37:g.196753531G>A	ENSP00000311273:p.Pro1741Ser	Somatic		WXS	SOLID	Phase_I	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506602	0.64410	.	.	ENSG00000118997	ENST00000312428	D	0.98889	-5.21	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.99594	0.9853	H	0.99182	4.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97578	1.0109	10	0.87932	D	0	.	19.1053	0.93293	0.0:0.0:1.0:0.0	.	1741	Q8WXX0	DYH7_HUMAN	S	1741	ENSP00000311273:P1741S	ENSP00000311273:P1741S	P	-	1	0	DNAH7	196461776	1.000000	0.71417	1.000000	0.80357	0.157000	0.22087	9.683000	0.98657	2.690000	0.91761	0.655000	0.94253	CCT		0.323	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3		NM_018897	
DNTT	1791	hgsc.bcm.edu	37	10	98064300	98064300	+	Missense_Mutation	SNP	C	C	G	rs148791733		TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr10:98064300C>G	ENST00000371174.2	+	1	148	c.46C>G	c.(46-48)Ccc>Gcc	p.P16A	DNTT_ENST00000419175.1_Missense_Mutation_p.P16A|RP11-35J23.1_ENST00000454484.2_RNA			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	16					DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GAAGAAGAGACCCCGGCAGAC	0.567																																																	0													53.0	59.0	57.0					10																	98064300		2203	4300	6503	SO:0001583	missense	1791			AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"""DNA polymerases"""	2983	protein-coding gene	gene with protein product	"""Terminal deoxynucleotidyltransferase"""	187410	"""deoxynucleotidyltransferase, terminal"""				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.46C>G	10.37:g.98064300C>G	ENSP00000360216:p.Pro16Ala	Somatic		WXS	SOLID	Phase_I	Q53FH1|Q5W103|Q96E50	Missense_Mutation	SNP	ENST00000371174.2	37	CCDS7447.1	.	.	.	.	.	.	.	.	.	.	C	0.170	-1.072311	0.01918	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.10382	2.88;2.88	5.76	-0.0252	0.13936	.	0.610673	0.17480	N	0.172743	T	0.06325	0.0163	L	0.49640	1.575	0.20403	N	0.9999	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.003	T	0.42949	-0.9421	10	0.02654	T	1	-1.1525	1.4246	0.02320	0.1285:0.3158:0.2936:0.2621	.	16;16	P04053-2;P04053	.;TDT_HUMAN	A	16	ENSP00000401169:P16A;ENSP00000360216:P16A	ENSP00000360216:P16A	P	+	1	0	DNTT	98054290	0.971000	0.33674	0.968000	0.41197	0.483000	0.33249	0.220000	0.17660	0.279000	0.22186	0.655000	0.94253	CCC		0.567	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1		NM_004088	
ECM2	1842	hgsc.bcm.edu	37	9	95267851	95267851	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr9:95267851A>T	ENST00000344604.5	-	7	1577	c.1428T>A	c.(1426-1428)ttT>ttA	p.F476L	ECM2_ENST00000444490.2_Missense_Mutation_p.F454L|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	476					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						GTATAATTCTAAATTTATTTT	0.328																																																	0													81.0	90.0	87.0					9																	95267851		2203	4300	6503	SO:0001583	missense	1842			AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.1428T>A	9.37:g.95267851A>T	ENSP00000344758:p.Phe476Leu	Somatic		WXS	SOLID	Phase_I	B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	ENST00000344604.5	37	CCDS6698.1	.	.	.	.	.	.	.	.	.	.	A	13.90	2.373872	0.42105	.	.	ENSG00000106823	ENST00000444490;ENST00000344604	T;T	0.18016	2.24;5.96	5.85	0.704	0.18121	.	0.088733	0.85682	N	0.000000	T	0.09468	0.0233	N	0.00879	-1.12	0.54753	D	0.999984	P;D;B	0.54397	0.614;0.966;0.381	B;D;B	0.64506	0.432;0.926;0.325	T	0.15009	-1.0452	10	0.06891	T	0.86	.	11.4194	0.49971	0.6014:0.0:0.3986:0.0	.	476;454;454	O94769;B4DK93;O94769-2	ECM2_HUMAN;.;.	L	454;476	ENSP00000393971:F454L;ENSP00000344758:F476L	ENSP00000344758:F476L	F	-	3	2	ECM2	94307672	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.542000	0.23222	0.174000	0.19809	0.533000	0.62120	TTT		0.328	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1		NM_001393	
EIF3CL	728689	hgsc.bcm.edu	37	16	28403353	28403355	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	TCC	TCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr16:28403353_28403355delTCC	ENST00000398943.3	-	9	1021_1023	c.885_887delGGA	c.(883-888)gaggac>gac	p.E295del	EIF3CL_ENST00000380876.4_In_Frame_Del_p.E295del|EIF3CL_ENST00000398944.3_In_Frame_Del_p.E295del			B5ME19	EIFCL_HUMAN	eukaryotic translation initiation factor 3, subunit C-like	295					formation of translation preinitiation complex (GO:0001731)|regulation of translational initiation (GO:0006446)	eukaryotic 43S preinitiation complex (GO:0016282)|eukaryotic 48S preinitiation complex (GO:0033290)|eukaryotic translation initiation factor 3 complex (GO:0005852)	translation initiation factor activity (GO:0003743)										GCCTTCATTGTCCTCCTCCTCCT	0.547																																																	0																																										SO:0001651	inframe_deletion	728689				CCDS42136.1	16p11.2	2008-10-28			ENSG00000205609	ENSG00000205609			26347	protein-coding gene	gene with protein product							Standard	NM_001099661		Approved			B5ME19	OTTHUMG00000097025	ENST00000398943.3:c.885_887delGGA	16.37:g.28403362_28403364delTCC	ENSP00000381916:p.Glu295del	Somatic		WXS	SOLID	Phase_I		In_Frame_Del	DEL	ENST00000398943.3	37	CCDS42136.1																																																																																				0.547	EIF3CL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214116.1			
EIF4G2	1982	hgsc.bcm.edu	37	11	10825488	10825488	+	Silent	SNP	A	A	C			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr11:10825488A>C	ENST00000526148.1	-	8	1170	c.660T>G	c.(658-660)ctT>ctG	p.L220L	EIF4G2_ENST00000396525.2_Silent_p.L220L|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000339995.5_Silent_p.L220L|EIF4G2_ENST00000525995.1_5'Flank|SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000525681.1_Silent_p.L220L	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2											NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GAATAAGATCAAGCTTGCCAA	0.443																																																	0													144.0	138.0	140.0					11																	10825488		2201	4294	6495	SO:0001819	synonymous_variant	1982			U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.660T>G	11.37:g.10825488A>C		Somatic		WXS	SOLID	Phase_I		Silent	SNP	ENST00000526148.1	37	CCDS31428.1																																																																																				0.443	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1		NM_001418	
EXT2	2132	hgsc.bcm.edu	37	11	44130770	44130770	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr11:44130770T>G	ENST00000343631.3	+	3	692	c.563T>G	c.(562-564)tTg>tGg	p.L188W	EXT2_ENST00000533608.1_Missense_Mutation_p.L188W|EXT2_ENST00000358681.4_Missense_Mutation_p.L188W|EXT2_ENST00000529186.1_3'UTR|EXT2_ENST00000395673.3_Missense_Mutation_p.L221W			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	188					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						AATCACCTGTTGTTCAACATG	0.443			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses																														yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	multiple exostoses type 2 gene		M	0													119.0	117.0	118.0					11																	44130770		2203	4300	6503	SO:0001583	missense	2132	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3513	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608210	"""exostoses (multiple) 2"", ""exostosin 2"""			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.563T>G	11.37:g.44130770T>G	ENSP00000342656:p.Leu188Trp	Somatic		WXS	SOLID	Phase_I	B2R5Z6|C9JU51|J3KPT2|O15288	Missense_Mutation	SNP	ENST00000343631.3	37	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.903184	0.92035	.	.	ENSG00000151348	ENST00000533608;ENST00000358681;ENST00000395673;ENST00000343631	D;D;D;D	0.98090	-4.71;-4.71;-4.71;-4.71	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.98510	0.9503	M	0.76328	2.33	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.999;0.998;0.999;0.999	D	0.99824	1.1049	10	0.87932	D	0	-6.8675	15.58	0.76425	0.0:0.0:0.0:1.0	.	188;188;188;188;201	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	W	188;188;221;188	ENSP00000431173:L188W;ENSP00000351509:L188W;ENSP00000379032:L221W;ENSP00000342656:L188W	ENSP00000342656:L188W	L	+	2	0	EXT2	44087346	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.930000	0.87610	2.076000	0.62316	0.533000	0.62120	TTG		0.443	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1		NM_000401	
FAM115C	285966	hgsc.bcm.edu	37	7	143400301	143400301	+	Missense_Mutation	SNP	A	A	G	rs1568852		TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr7:143400301A>G	ENST00000441159.2	+	2	280	c.214A>G	c.(214-216)Act>Gct	p.T72A	FAM115C_ENST00000357344.4_Missense_Mutation_p.T72A|FAM115C_ENST00000444908.2_Missense_Mutation_p.T72A|FAM115C_ENST00000411497.2_Intron			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	72				T -> A (in Ref. 1; AAN87343 and 5; AAI17234). {ECO:0000305}.	hematopoietic progenitor cell differentiation (GO:0002244)					endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						CCTGTCGCATACTGGCTTGGC	0.602																																																	0													27.0	57.0	49.0					7																	143400301		1221	3223	4444	SO:0001583	missense	285966			AY167570	CCDS34769.1, CCDS47735.1, CCDS47735.2	7q35	2010-08-03	2008-06-12	2008-06-12	ENSG00000170379	ENSG00000170379			26878	protein-coding gene	gene with protein product			"""family with sequence similarity 139, member A"""	FAM139A			Standard	NM_173678		Approved	FLJ40722	uc003wdf.3	A6NFQ2	OTTHUMG00000153232	ENST00000441159.2:c.214A>G	7.37:g.143400301A>G	ENSP00000404265:p.Thr72Ala	Somatic		WXS	SOLID	Phase_I	B4DK02|Q14D25|Q17RQ4|Q8IWQ0|Q8NF84	Missense_Mutation	SNP	ENST00000441159.2	37		.	.	.	.	.	.	.	.	.	.	G	0.003	-2.521307	0.00149	.	.	ENSG00000170379	ENST00000444908;ENST00000357344;ENST00000441159	T;T;T	0.21191	2.02;2.02;2.02	3.92	-4.7	0.03288	.	0.749503	0.12146	N	0.495365	T	0.01976	0.0062	N	0.00066	-2.3	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24870	-1.0148	10	0.02654	T	1	-0.7804	0.7285	0.00953	0.2312:0.2226:0.3213:0.2248	.	72	A6NFQ2-2	.	A	72	ENSP00000412724:T72A;ENSP00000349902:T72A;ENSP00000404265:T72A	ENSP00000349902:T72A	T	+	1	0	FAM115C	143031234	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.290000	0.08354	-1.506000	0.01805	-0.684000	0.03749	ACT		0.602	FAM115C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000330287.1		NM_173678	
FBXO27	126433	hgsc.bcm.edu;ucsc.edu	37	19	39517640	39517640	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr19:39517640C>T	ENST00000292853.4	-	5	697	c.578G>A	c.(577-579)gGa>gAa	p.G193E	FBXO27_ENST00000509137.2_Missense_Mutation_p.G193E|FBXO27_ENST00000600828.1_Missense_Mutation_p.G192E	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	193	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GTGTCGGGCTCCCCACCTGTG	0.552																																																	0													87.0	88.0	88.0					19																	39517640		2203	4300	6503	SO:0001583	missense	126433			AF436061	CCDS12527.1	19q13.2	2008-02-05	2004-06-15			ENSG00000161243		"""F-boxes /  ""other"""""	18753	protein-coding gene	gene with protein product		609099	"""F-box only protein 27"""			126433	Standard	NM_178820		Approved	Fbg5, Fbx27	uc002okh.3	Q8NI29		ENST00000292853.4:c.578G>A	19.37:g.39517640C>T	ENSP00000292853:p.Gly193Glu	Somatic		WXS	SOLID	Phase_I	Q96C87	Missense_Mutation	SNP	ENST00000292853.4	37	CCDS12527.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821319	0.50633	.	.	ENSG00000161243	ENST00000292853;ENST00000509137	T;T	0.26518	1.73;1.73	3.97	0.41	0.16387	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.436751	0.18874	N	0.128765	T	0.11793	0.0287	L	0.28458	0.855	0.26887	N	0.967412	B	0.34349	0.45	B	0.33295	0.161	T	0.19321	-1.0309	10	0.09590	T	0.72	-33.6935	2.4972	0.04624	0.182:0.4856:0.2242:0.1082	.	193	Q8NI29	FBX27_HUMAN	E	193	ENSP00000292853:G193E;ENSP00000437662:G193E	ENSP00000292853:G193E	G	-	2	0	FBXO27	44209480	0.001000	0.12720	0.830000	0.32933	0.050000	0.14768	-0.517000	0.06275	0.086000	0.17137	0.491000	0.48974	GGA		0.552	FBXO27-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463281.1			
FBXW8	26259	hgsc.bcm.edu	37	12	117448164	117448164	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr12:117448164T>A	ENST00000309909.5	+	8	1358	c.1276T>A	c.(1276-1278)Ttg>Atg	p.L426M	FBXW8_ENST00000455858.2_Missense_Mutation_p.L360M			Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	426					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|labyrinthine layer blood vessel development (GO:0060716)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|spongiotrophoblast layer development (GO:0060712)	Cul7-RING ubiquitin ligase complex (GO:0031467)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		ACGCCGCCTCTTGAAGCTGGG	0.547																																																	0													176.0	137.0	150.0					12																	117448164		2203	4300	6503	SO:0001583	missense	26259			AF176707	CCDS9182.1, CCDS44988.1	12q24.23	2013-01-09	2007-02-08	2003-06-13				"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13597	protein-coding gene	gene with protein product		609073	"""F-box only protein 29"", ""F-box and WD-40 domain protein 8"""	FBXO29		10531035, 10531037	Standard	NM_012174		Approved	FBX29, FBW6, FBW8	uc001twg.1	Q8N3Y1	OTTHUMG00000169329	ENST00000309909.5:c.1276T>A	12.37:g.117448164T>A	ENSP00000310686:p.Leu426Met	Somatic		WXS	SOLID	Phase_I	Q9UK95	Missense_Mutation	SNP	ENST00000309909.5	37	CCDS9182.1	.	.	.	.	.	.	.	.	.	.	T	15.04	2.714153	0.48622	.	.	ENSG00000174989	ENST00000309909;ENST00000455858;ENST00000505227	T;T	0.04862	3.54;3.54	5.81	3.47	0.39725	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.509297	0.21256	N	0.077556	T	0.08088	0.0202	L	0.29908	0.895	0.24904	N	0.992086	D;P	0.55172	0.97;0.923	P;B	0.54312	0.748;0.424	T	0.19679	-1.0298	10	0.39692	T	0.17	-2.9501	5.1445	0.14977	0.277:0.0:0.1466:0.5764	.	426;360	Q8N3Y1;Q8N3Y1-2	FBXW8_HUMAN;.	M	426;360;360	ENSP00000310686:L426M;ENSP00000389144:L360M	ENSP00000310686:L426M	L	+	1	2	FBXW8	115932547	0.511000	0.26179	1.000000	0.80357	0.698000	0.40448	1.123000	0.31308	2.217000	0.71921	0.533000	0.62120	TTG		0.547	FBXW8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403561.1		NM_012174	
FECH	2235	hgsc.bcm.edu;ucsc.edu	37	18	55238682	55238682	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr18:55238682C>A	ENST00000262093.5	-	4	556	c.405G>T	c.(403-405)tgG>tgT	p.W135C	FECH_ENST00000382873.3_Missense_Mutation_p.W141C|FECH_ENST00000585699.1_5'UTR	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	135					cellular response to dexamethasone stimulus (GO:0071549)|cholesterol metabolic process (GO:0008203)|detection of UV (GO:0009589)|erythrocyte differentiation (GO:0030218)|generation of precursor metabolites and energy (GO:0006091)|heme biosynthetic process (GO:0006783)|iron ion homeostasis (GO:0055072)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|regulation of gene expression (GO:0010468)|regulation of hemoglobin biosynthetic process (GO:0046984)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insecticide (GO:0017085)|response to lead ion (GO:0010288)|response to light stimulus (GO:0009416)|response to methylmercury (GO:0051597)|response to platinum ion (GO:0070541)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle assembly (GO:0034379)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	2 iron, 2 sulfur cluster binding (GO:0051537)|ferrochelatase activity (GO:0004325)|ferrous iron binding (GO:0008198)|heme binding (GO:0020037)|iron-responsive element binding (GO:0030350)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				GCTTGGAAGTCCATATCTTGA	0.478																																																	0													127.0	110.0	116.0					18																	55238682		2203	4300	6503	SO:0001583	missense	2235			D00726	CCDS11964.1, CCDS32836.1	18q21.2-q21.3	2010-05-11	2010-05-11		ENSG00000066926	ENSG00000066926	4.99.1.1		3647	protein-coding gene	gene with protein product	"""protoporphyria"""	612386	"""ferrochelatase (protoporphyria)"""			1838349	Standard	NM_001012515		Approved		uc002lgp.4	P22830	OTTHUMG00000132740	ENST00000262093.5:c.405G>T	18.37:g.55238682C>A	ENSP00000262093:p.Trp135Cys	Somatic		WXS	SOLID	Phase_I	A8KA72|Q8IXN1|Q8NAN0	Missense_Mutation	SNP	ENST00000262093.5	37	CCDS11964.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.771936	0.90108	.	.	ENSG00000066926	ENST00000262093;ENST00000382873	D;D	0.96940	-4.18;-4.18	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.98707	0.9566	M	0.93328	3.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99091	1.0840	10	0.62326	D	0.03	-13.4827	19.6196	0.95650	0.0:1.0:0.0:0.0	.	135;141	P22830;P22830-2	HEMH_HUMAN;.	C	135;141	ENSP00000262093:W135C;ENSP00000372326:W141C	ENSP00000262093:W135C	W	-	3	0	FECH	53389680	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.663000	0.83820	2.750000	0.94351	0.561000	0.74099	TGG		0.478	FECH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256098.1			
FLT4	2324	hgsc.bcm.edu	37	5	180053263	180053263	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr5:180053263T>A	ENST00000261937.6	-	9	1184	c.1106A>T	c.(1105-1107)tAc>tTc	p.Y369F	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.Y369F|FLT4_ENST00000502649.1_Missense_Mutation_p.Y369F	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	369	Ig-like C2-type 4.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCCATCCTTGTACCTGGCCAG	0.637																																					Colon(97;1075 1466 27033 27547 35871)												0													80.0	84.0	83.0					5																	180053263		2203	4300	6503	SO:0001583	missense	2324			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1106A>T	5.37:g.180053263T>A	ENSP00000261937:p.Tyr369Phe	Somatic		WXS	SOLID	Phase_I	A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	T	10.32	1.316386	0.23908	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.14391	2.51;2.51;2.51	4.46	3.25	0.37280	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.09247	0.0228	L	0.35542	1.07	0.40515	D	0.980772	B;B;B	0.26120	0.142;0.019;0.019	B;B;B	0.27262	0.078;0.075;0.075	T	0.21759	-1.0236	9	0.17369	T	0.5	.	6.1841	0.20488	0.2041:0.0:0.1401:0.6558	.	369;369;369	P35916-3;E9PD35;P35916	.;.;VGFR3_HUMAN	F	369;369;369;179	ENSP00000261937:Y369F;ENSP00000377016:Y369F;ENSP00000426057:Y369F	ENSP00000261937:Y369F	Y	-	2	0	FLT4	179985869	0.994000	0.37717	1.000000	0.80357	0.478000	0.33099	0.062000	0.14389	0.664000	0.31047	0.454000	0.30748	TAC		0.637	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			
CMTR1	23070	hgsc.bcm.edu	37	6	37429369	37429369	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr6:37429369C>G	ENST00000373451.4	+	11	1304	c.1140C>G	c.(1138-1140)agC>agG	p.S380R	CMTR1_ENST00000493656.1_3'UTR	NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	380	RrmJ-type SAM-dependent 2'-O-MTase. {ECO:0000255|PROSITE-ProRule:PRU00945}.				7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)										AGATCCTCAGCAAGCAGCTGC	0.547																																																	0													123.0	113.0	116.0					6																	37429369		2203	4300	6503	SO:0001583	missense	23070			BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"""G patch domain containing"""	21077	protein-coding gene	gene with protein product			"""KIAA0082"", ""FtsJ methyltransferase domain containing 2"""	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.1140C>G	6.37:g.37429369C>G	ENSP00000362550:p.Ser380Arg	Somatic		WXS	SOLID	Phase_I	A8K949|Q14670|Q96FJ9	Missense_Mutation	SNP	ENST00000373451.4	37	CCDS4835.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647653	0.87958	.	.	ENSG00000137200	ENST00000373451;ENST00000455891;ENST00000373427	T;T	0.36520	1.25;1.25	5.76	4.71	0.59529	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.000000	0.85682	D	0.000000	T	0.61375	0.2342	M	0.90977	3.165	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.77004	0.967;0.989	T	0.68209	-0.5469	10	0.59425	D	0.04	-20.3025	14.7683	0.69657	0.0:0.9188:0.0:0.0812	.	324;380	Q5T7F5;Q8N1G2	.;MTR1_HUMAN	R	380;324;324	ENSP00000362550:S380R;ENSP00000414233:S324R	ENSP00000362526:S324R	S	+	3	2	FTSJD2	37537347	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.763000	0.62257	2.725000	0.93324	0.591000	0.81541	AGC		0.547	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1		NM_015050	
GLB1L	79411	hgsc.bcm.edu	37	2	220102299	220102299	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr2:220102299A>G	ENST00000295759.7	-	16	1937	c.1624T>C	c.(1624-1626)Tcc>Ccc	p.S542P	GLB1L_ENST00000409640.1_Missense_Mutation_p.S452P|GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000356283.3_Missense_Mutation_p.S452P|GLB1L_ENST00000392089.2_Missense_Mutation_p.S542P			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	542					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AATGTTTTGGAGTAGAATGTG	0.468																																																	0													80.0	82.0	81.0					2																	220102299		2203	4300	6503	SO:0001583	missense	79411				CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.1624T>C	2.37:g.220102299A>G	ENSP00000295759:p.Ser542Pro	Somatic		WXS	SOLID	Phase_I	Q96DR0	Missense_Mutation	SNP	ENST00000295759.7	37	CCDS2437.1	.	.	.	.	.	.	.	.	.	.	A	9.019	0.984337	0.18889	.	.	ENSG00000163521	ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283	D;D;D;D	0.94232	-3.38;-3.38;-3.38;-3.38	5.09	5.09	0.68999	Galactose-binding domain-like (1);	0.447334	0.23904	N	0.043415	D	0.94026	0.8086	L	0.54323	1.7	0.42832	D	0.994029	D;D	0.71674	0.998;0.965	P;P	0.62649	0.905;0.579	D	0.92708	0.6180	10	0.37606	T	0.19	-17.0788	8.4212	0.32700	0.7088:0.0:0.0:0.2912	.	452;542	Q6UWU2-2;Q6UWU2	.;GLB1L_HUMAN	P	542;452;542;452	ENSP00000295759:S542P;ENSP00000386354:S452P;ENSP00000375939:S542P;ENSP00000348628:S452P	ENSP00000295759:S542P	S	-	1	0	GLB1L	219810543	1.000000	0.71417	0.996000	0.52242	0.745000	0.42441	2.209000	0.42806	2.129000	0.65627	0.533000	0.62120	TCC		0.468	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2		NM_024506	
GYPB	2994	hgsc.bcm.edu	37	4	145038027	145038027	+	Intron	SNP	C	C	T	rs146754148	byFrequency	TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr4:145038027C>T	ENST00000283126.7	-	1	93				GYPA_ENST00000360771.4_Missense_Mutation_p.G113S|GYPA_ENST00000512064.1_Missense_Mutation_p.G100S|GYPA_ENST00000324022.10_Missense_Mutation_p.G80S|GYPA_ENST00000535709.1_Missense_Mutation_p.G87S|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000512789.1_Missense_Mutation_p.G48S|GYPA_ENST00000504786.1_Missense_Mutation_p.G81S|GYPA_ENST00000503627.1_Missense_Mutation_p.G68S			P06028	GLPB_HUMAN	glycophorin B (MNS blood group)							integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.G113S(1)		breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					CGGCGAATACCGTAAGAAATT	0.363													N|||	6	0.00119808	0.0008	0.0	5008	,	,		16389	0.0		0.003	False		,,,				2504	0.002																1	Substitution - Missense(1)	central_nervous_system(1)						T	SER/GLY	1,4405		0,1,2202	120.0	122.0	121.0		337	-9.6	0.0	4	dbSNP_134	121	6,8594		0,6,4294	yes	missense	GYPA	NM_002099.6	56	0,7,6496	TT,TC,CC		0.0698,0.0227,0.0538	benign	113/151	145038027	7,12999	2203	4300	6503	SO:0001627	intron_variant	2993				CCDS54809.1	4q31.21	2014-09-17	2006-02-23			ENSG00000250361		"""CD molecules"", ""Blood group antigens"""	4703	protein-coding gene	gene with protein product		111740	"""glycophorin B (includes Ss blood group)"", ""glycophorin B (Ss blood group)"""	MNS			Standard	NM_002100		Approved	GPB, SS, CD235b		P06028		ENST00000283126.7:c.37+23724G>A	4.37:g.145038027C>T		Somatic		WXS	SOLID	Phase_I	B8Q174|E2QBW7|Q0VAF4|Q58HE9|Q58HF0|Q58HF1|Q9UCH7	Missense_Mutation	SNP	ENST00000283126.7	37		2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	a	7.118	0.577426	0.13686	2.27E-4	6.98E-4	ENSG00000170180	ENST00000360771;ENST00000324022;ENST00000535709;ENST00000512064;ENST00000512789;ENST00000504786;ENST00000503627	T;T;T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44;2.44;2.44	4.79	-9.57	0.00562	.	1.318910	0.05208	N	0.506259	T	0.04861	0.0131	N	0.02916	-0.46	0.09310	N	1	B;B;B;B;B	0.22851	0.076;0.044;0.033;0.019;0.001	B;B;B;B;B	0.14578	0.007;0.007;0.011;0.011;0.002	T	0.30357	-0.9981	10	0.02654	T	1	-7.0E-4	10.8318	0.46665	0.1479:0.6916:0.0685:0.092	.	80;48;100;81;113	B8Q185;Q13030;E9PD10;E7EQF3;P02724	.;.;.;.;GLPA_HUMAN	S	113;80;87;100;48;81;68	ENSP00000354003:G113S;ENSP00000324483:G80S;ENSP00000445398:G87S;ENSP00000426130:G100S;ENSP00000425193:G48S;ENSP00000425549:G81S;ENSP00000421243:G68S	ENSP00000324483:G80S	G	-	1	0	GYPA	145257477	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.121000	0.03270	-2.698000	0.00400	-1.898000	0.00530	GGT		0.363	GYPB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_002100	
HDAC1	3065	hgsc.bcm.edu;ucsc.edu	37	1	32797118	32797118	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr1:32797118C>G	ENST00000373548.3	+	10	1107	c.1023C>G	c.(1021-1023)ttC>ttG	p.F341L	HDAC1_ENST00000490081.1_3'UTR|HDAC1_ENST00000373541.2_Missense_Mutation_p.F148L	NM_004964.2	NP_004955.2	Q13547	HDAC1_HUMAN	histone deacetylase 1	341					ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|mitotic cell cycle (GO:0000278)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deacetylation (GO:0006476)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	GACCAGATTTCAAGCTCCACA	0.473																																																	0													104.0	94.0	98.0					1																	32797118		2203	4300	6503	SO:0001583	missense	3065			D50405	CCDS360.1	1p34	2008-02-05			ENSG00000116478	ENSG00000116478			4852	protein-coding gene	gene with protein product		601241		RPD3L1		8602529	Standard	NM_004964		Approved	HD1, GON-10	uc001bvb.1	Q13547	OTTHUMG00000007529	ENST00000373548.3:c.1023C>G	1.37:g.32797118C>G	ENSP00000362649:p.Phe341Leu	Somatic		WXS	SOLID	Phase_I	Q92534	Missense_Mutation	SNP	ENST00000373548.3	37	CCDS360.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992503	0.54041	.	.	ENSG00000116478	ENST00000373548;ENST00000373541	T;T	0.77098	-1.07;-1.07	4.17	3.24	0.37175	Histone deacetylase domain (1);	0.000000	0.85682	D	0.000000	D	0.83285	0.5221	H	0.96080	3.765	0.54753	D	0.999987	B	0.13594	0.008	B	0.12837	0.008	T	0.83103	-0.0127	10	0.87932	D	0	-19.146	10.9081	0.47092	0.0:0.8353:0.0:0.1647	.	341	Q13547	HDAC1_HUMAN	L	341;148	ENSP00000362649:F341L;ENSP00000362642:F148L	ENSP00000362642:F148L	F	+	3	2	HDAC1	32569705	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	1.230000	0.32612	1.059000	0.40554	0.563000	0.77884	TTC		0.473	HDAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019815.3		NM_004964	
HELZ	9931	hgsc.bcm.edu;ucsc.edu	37	17	65110477	65110477	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr17:65110477A>C	ENST00000358691.5	-	28	4047	c.3881T>G	c.(3880-3882)aTt>aGt	p.I1294S	HELZ_ENST00000580168.1_Missense_Mutation_p.I1295S	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1294						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TGGTGTTCGAATCTTATTAAT	0.343																																																	0													165.0	148.0	153.0					17																	65110477		1811	4081	5892	SO:0001583	missense	9931			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.3881T>G	17.37:g.65110477A>C	ENSP00000351524:p.Ile1294Ser	Somatic		WXS	SOLID	Phase_I	I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	A	13.14	2.147084	0.37923	.	.	ENSG00000198265	ENST00000358691	D	0.83837	-1.77	5.65	5.65	0.86999	.	0.053496	0.85682	D	0.000000	T	0.74869	0.3773	L	0.29908	0.895	0.41601	D	0.988852	P;P	0.49783	0.652;0.928	B;B	0.39465	0.225;0.3	T	0.79992	-0.1569	10	0.87932	D	0	-18.2388	14.8491	0.70284	1.0:0.0:0.0:0.0	.	1295;1294	B7ZLW2;P42694	.;HELZ_HUMAN	S	1294	ENSP00000351524:I1294S	ENSP00000351524:I1294S	I	-	2	0	HELZ	62540939	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.915000	0.69973	2.154000	0.67381	0.445000	0.29226	ATT		0.343	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1		NM_014877	
HLA-A	3105	hgsc.bcm.edu	37	6	29910663	29910663	+	Missense_Mutation	SNP	G	G	A	rs707910	byFrequency	TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr6:29910663G>A	ENST00000396634.1	+	4	544	c.203G>A	c.(202-204)aGg>aAg	p.R68K	HLA-A_ENST00000376806.5_Missense_Mutation_p.R68K|HLA-A_ENST00000376809.5_Missense_Mutation_p.R68K|HLA-A_ENST00000376802.2_Missense_Mutation_p.R68K			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	68	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GCGAGCCAGAGGATGGAGCCG	0.687									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			g|||	454	0.090655	0.0847	0.0476	5008	,	,		14754	0.0188		0.1262	False		,,,				2504	0.1667																0								G	LYS/ARG	347,4057		17,313,1872	48.0	46.0	47.0		203	2.8	0.4	6	dbSNP_86	47	1395,7203		130,1135,3034	no	missense	HLA-A	NM_002116.7	26	147,1448,4906	AA,AG,GG		16.2247,7.8792,13.3979	benign	68/366	29910663	1742,11260	2202	4299	6501	SO:0001583	missense	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.203G>A	6.37:g.29910663G>A	ENSP00000379873:p.Arg68Lys	Somatic		WXS	SOLID	Phase_I	O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	CCDS34373.1	168	0.07692307692307693	39	0.07926829268292683	17	0.04696132596685083	10	0.017482517482517484	102	0.1345646437994723	.	13.11	2.139534	0.37728	0.078792	0.162247	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00816	5.66;5.66;5.66;5.66	3.72	2.85	0.33270	MHC class I, alpha chain, alpha1/alpha2 (3);MHC classes I/II-like antigen recognition protein (3);MHC class I-like antigen recognition (3);	0.236115	0.21148	U	0.079368	T	0.02047	0.0064	M	0.80508	2.5	0.58432	P	5.000000000032756E-6	P;B;B;B;B	0.51147	0.942;0.0;0.0;0.0;0.0	D;B;B;B;B	0.74348	0.983;0.001;0.002;0.001;0.004	T	0.23547	-1.0185	9	0.87932	D	0	.	7.302	0.26426	0.1248:0.0:0.8752:0.0	rs707910;rs2230979;rs3200124;rs9260131;rs16896268;rs41541315	68;68;68;68;68	P13746;Q5SRN7;P16188;Q5SRN5;P04439	1A11_HUMAN;.;1A30_HUMAN;.;1A03_HUMAN	K	68	ENSP00000379873:R68K;ENSP00000366002:R68K;ENSP00000366005:R68K;ENSP00000365998:R68K	ENSP00000348012:R68K	R	+	2	0	HLA-A	30018642	0.002000	0.14202	0.442000	0.26870	0.608000	0.37181	0.867000	0.27968	0.936000	0.37367	0.478000	0.44815	AGG		0.687	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1		NM_002116	
IL6ST	3572	hgsc.bcm.edu	37	5	55264141	55264141	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr5:55264141T>C	ENST00000381298.2	-	5	766	c.454A>G	c.(454-456)Aca>Gca	p.T152A	IL6ST_ENST00000381294.3_Missense_Mutation_p.T152A|IL6ST_ENST00000577363.1_Intron|IL6ST_ENST00000522633.2_Missense_Mutation_p.T152A|IL6ST_ENST00000336909.5_Missense_Mutation_p.T152A|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000396816.1_Intron|IL6ST_ENST00000502326.3_Missense_Mutation_p.T152A|IL6ST_ENST00000536319.1_Missense_Mutation_p.T152A|IL6ST_ENST00000381287.4_Missense_Mutation_p.T152A|IL6ST_ENST00000381293.2_Intron	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	152	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TCCAAGTGTGTTTCCCTTCCA	0.338			O		hepatocellular ca																																			Dom	yes		5	5q11	3572	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""		E	0													133.0	131.0	132.0					5																	55264141		2202	4299	6501	SO:0001583	missense	3572			M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.454A>G	5.37:g.55264141T>C	ENSP00000370698:p.Thr152Ala	Somatic		WXS	SOLID	Phase_I	A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	37	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.202335	0.79127	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294;ENST00000381287;ENST00000536319;ENST00000522633;ENST00000542298	T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25	5.76	5.76	0.90799	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.110117	0.64402	D	0.000011	T	0.58481	0.2125	M	0.79693	2.465	0.80722	D	1	P;D;P	0.54601	0.762;0.967;0.859	P;P;P	0.57057	0.478;0.812;0.583	T	0.64179	-0.6468	10	0.72032	D	0.01	.	16.3786	0.83431	0.0:0.0:0.0:1.0	.	152;152;152	Q5FC04;P40189-2;P40189	.;.;IL6RB_HUMAN	A	152	ENSP00000370698:T152A;ENSP00000338799:T152A;ENSP00000370694:T152A;ENSP00000370687:T152A;ENSP00000444456:T152A;ENSP00000435399:T152A	ENSP00000338799:T152A	T	-	1	0	IL6ST	55299898	1.000000	0.71417	0.820000	0.32676	0.846000	0.48090	5.091000	0.64505	2.323000	0.78572	0.528000	0.53228	ACA		0.338	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3		NM_002184	
ITGAL	3683	hgsc.bcm.edu	37	16	30495168	30495168	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr16:30495168A>G	ENST00000356798.6	+	8	923	c.743A>G	c.(742-744)gAg>gGg	p.E248G	ITGAL_ENST00000454514.2_3'UTR|RNU7-61P_ENST00000515897.1_RNA|RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000358164.5_Missense_Mutation_p.E165G|ITGAL_ENST00000433423.2_Intron|RP11-297C4.3_ENST00000562525.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	248	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	TTCCGGGAGGAGCTGGGGGCC	0.582																																					NSCLC(110;1462 1641 3311 33990 49495)												0													92.0	89.0	90.0					16																	30495168		2197	4300	6497	SO:0001583	missense	3683				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.743A>G	16.37:g.30495168A>G	ENSP00000349252:p.Glu248Gly	Somatic		WXS	SOLID	Phase_I	O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	A	16.33	3.092449	0.55968	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	D;D	0.84223	-1.82;-1.82	5.96	4.86	0.63082	von Willebrand factor, type A (3);	0.393242	0.21649	N	0.071208	D	0.82462	0.5042	M	0.64404	1.975	0.23946	N	0.996388	P;B	0.41784	0.762;0.24	B;B	0.41202	0.35;0.1	T	0.75314	-0.3361	10	0.34782	T	0.22	.	10.2107	0.43138	0.9217:0.0:0.0783:0.0	.	165;248	Q96HB1;P20701	.;ITAL_HUMAN	G	248;165	ENSP00000349252:E248G;ENSP00000350886:E165G	ENSP00000349252:E248G	E	+	2	0	ITGAL	30402669	0.081000	0.21417	0.011000	0.14972	0.288000	0.27193	3.645000	0.54389	2.283000	0.76528	0.477000	0.44152	GAG		0.582	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			
ITPR2	3709	hgsc.bcm.edu;ucsc.edu	37	12	26703220	26703220	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr12:26703220A>G	ENST00000381340.3	-	37	5449	c.5033T>C	c.(5032-5034)tTa>tCa	p.L1678S		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1678					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CATTTCTCGTAATGTCTGAAG	0.289																																																	0													92.0	80.0	84.0					12																	26703220		1790	4057	5847	SO:0001583	missense	3709			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.5033T>C	12.37:g.26703220A>G	ENSP00000370744:p.Leu1678Ser	Somatic		WXS	SOLID	Phase_I	O94773	Missense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.204941	0.79127	.	.	ENSG00000123104	ENST00000381340	T	0.75704	-0.96	5.14	5.14	0.70334	.	0.067347	0.64402	D	0.000013	D	0.87208	0.6120	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88989	0.3413	10	0.59425	D	0.04	.	15.288	0.73843	1.0:0.0:0.0:0.0	.	1678	Q14571	ITPR2_HUMAN	S	1678	ENSP00000370744:L1678S	ENSP00000370744:L1678S	L	-	2	0	ITPR2	26594487	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.673000	0.91186	2.076000	0.62316	0.460000	0.39030	TTA		0.289	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1		NM_002223	
KANK2	25959	hgsc.bcm.edu;ucsc.edu	37	19	11277265	11277265	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr19:11277265T>C	ENST00000586659.1	-	13	2839	c.2525A>G	c.(2524-2526)gAg>gGg	p.E842G	KANK2_ENST00000587317.1_5'UTR|KANK2_ENST00000432929.2_Missense_Mutation_p.E850G|KANK2_ENST00000589359.1_Missense_Mutation_p.E850G|KANK2_ENST00000355150.5_Missense_Mutation_p.E842G			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	842					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGTAGGGCTCTCGTCATCTGA	0.587																																																	0													124.0	109.0	114.0					19																	11277265		2203	4300	6503	SO:0001583	missense	25959			AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	29300	protein-coding gene	gene with protein product		614610	"""matrix-remodelling associated 3"", ""ankyrin repeat domain 25"""	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.2525A>G	19.37:g.11277265T>C	ENSP00000465650:p.Glu842Gly	Somatic		WXS	SOLID	Phase_I	B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Missense_Mutation	SNP	ENST00000586659.1	37	CCDS12255.1	.	.	.	.	.	.	.	.	.	.	T	15.06	2.722299	0.48728	.	.	ENSG00000197256	ENST00000432929;ENST00000355150	T;T	0.39787	1.06;1.08	3.11	3.11	0.35812	.	0.597988	0.16146	N	0.227512	T	0.42765	0.1217	N	0.22421	0.69	0.34849	D	0.741459	D;D	0.61080	0.963;0.989	P;D	0.70487	0.644;0.969	T	0.43426	-0.9392	10	0.19147	T	0.46	-23.7638	8.0124	0.30361	0.0:0.0:0.0:1.0	.	842;850	Q63ZY3;Q63ZY3-2	KANK2_HUMAN;.	G	850;842	ENSP00000395650:E850G;ENSP00000347276:E842G	ENSP00000347276:E842G	E	-	2	0	KANK2	11138265	0.517000	0.26226	0.987000	0.45799	0.598000	0.36846	1.545000	0.36169	1.675000	0.50919	0.383000	0.25322	GAG		0.587	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2		NM_015493	
CFAP97	57587	hgsc.bcm.edu;ucsc.edu	37	4	186085307	186085307	+	Silent	SNP	C	C	A			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr4:186085307C>A	ENST00000458385.2	-	4	1466	c.1347G>T	c.(1345-1347)gtG>gtT	p.V449V		NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		449										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		CTGTTGGTTTCACGGCCTCAA	0.393																																																	0													128.0	119.0	122.0					4																	186085307		1895	4116	6011	SO:0001819	synonymous_variant	57587																														ENST00000458385.2:c.1347G>T	4.37:g.186085307C>A		Somatic		WXS	SOLID	Phase_I	B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Silent	SNP	ENST00000458385.2	37	CCDS47168.1																																																																																				0.393	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360717.2			
KIAA1549	57670	hgsc.bcm.edu;ucsc.edu	37	7	138556052	138556052	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr7:138556052G>A	ENST00000422774.1	-	13	4450	c.4402C>T	c.(4402-4404)Cac>Tac	p.H1468Y	KIAA1549_ENST00000242365.4_Missense_Mutation_p.H1418Y|KIAA1549_ENST00000440172.1_Missense_Mutation_p.H1468Y			Q9HCM3	K1549_HUMAN	KIAA1549	1468						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CTGTCCACGTGCTCGAAGATG	0.597			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)			Dom	yes		7	7q34	57670	KIAA1549		O	0													48.0	57.0	54.0					7																	138556052		2057	4197	6254	SO:0001583	missense	57670				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.4402C>T	7.37:g.138556052G>A	ENSP00000416040:p.His1468Tyr	Somatic		WXS	SOLID	Phase_I	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	G	36	5.755488	0.96898	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.27890	1.64;1.64;1.66	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.56775	0.2008	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;0.998	D;D;D;D	0.91635	0.999;0.994;0.998;0.994	T	0.59595	-0.7425	10	0.87932	D	0	.	17.8161	0.88634	0.0:0.0:1.0:0.0	.	1468;252;1468;252	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	Y	1468;1418;1468	ENSP00000406661:H1468Y;ENSP00000242365:H1418Y;ENSP00000416040:H1468Y	ENSP00000242365:H1418Y	H	-	1	0	KIAA1549	138206592	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	9.263000	0.95617	2.676000	0.91093	0.655000	0.94253	CAC		0.597	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			
MAGEL2	54551	hgsc.bcm.edu;ucsc.edu	37	15	23890714	23890714	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr15:23890714T>C	ENST00000532292.1	-	1	461	c.367A>G	c.(367-369)Ata>Gta	p.I123V		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	0					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CTGCGGTCTATAGAAGAGGCC	0.592																																																	0													23.0	24.0	24.0					15																	23890714		1871	4105	5976	SO:0001583	missense	54551			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.367A>G	15.37:g.23890714T>C	ENSP00000433433:p.Ile123Val	Somatic		WXS	SOLID	Phase_I		Missense_Mutation	SNP	ENST00000532292.1	37																																																																																					0.592	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2		NM_019066	
LRRK1	79705	hgsc.bcm.edu	37	15	101595297	101595297	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr15:101595297G>T	ENST00000388948.3	+	27	4560	c.4201G>T	c.(4201-4203)Gag>Tag	p.E1401*	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Nonsense_Mutation_p.E1398*	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGACGTCAAGGAGCACATCAA	0.557																																																	0													136.0	133.0	134.0					15																	101595297		2059	4199	6258	SO:0001587	stop_gained	79705			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.4201G>T	15.37:g.101595297G>T	ENSP00000373600:p.Glu1401*	Somatic		WXS	SOLID	Phase_I		Nonsense_Mutation	SNP	ENST00000388948.3	37	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	G	33	5.264221	0.95399	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762	.	.	.	4.78	4.78	0.61160	.	0.116059	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	18.1639	0.89718	0.0:0.0:1.0:0.0	.	.	.	.	X	1401;1398;92	.	ENSP00000284395:E1398X	E	+	1	0	LRRK1	99412820	1.000000	0.71417	0.936000	0.37596	0.810000	0.45777	5.934000	0.70138	2.347000	0.79759	0.591000	0.81541	GAG		0.557	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2		NM_024652	
MICAL3	57553	hgsc.bcm.edu	37	22	18389489	18389489	+	Silent	SNP	C	C	T			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr22:18389489C>T	ENST00000441493.2	-	2	442	c.90G>A	c.(88-90)aaG>aaA	p.K30K	MICAL3_ENST00000400561.2_Silent_p.K30K|MICAL3_ENST00000444520.1_Silent_p.K30K|MICAL3_ENST00000383094.3_Silent_p.K30K|MICAL3_ENST00000585038.1_Silent_p.K30K|MICAL3_ENST00000207726.7_Silent_p.K30K|MICAL3_ENST00000414725.2_Silent_p.K30K|MICAL3_ENST00000429452.1_Silent_p.K30K	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	30	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CCTGGAAAGCCTTGAGGGTTC	0.527																																																	0													152.0	142.0	145.0					22																	18389489		1568	3582	5150	SO:0001819	synonymous_variant	57553			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.90G>A	22.37:g.18389489C>T		Somatic		WXS	SOLID	Phase_I	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Silent	SNP	ENST00000441493.2	37	CCDS46659.1																																																																																				0.527	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			
MUC16	94025	hgsc.bcm.edu;ucsc.edu	37	19	9057886	9057886	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr19:9057886C>G	ENST00000397910.4	-	3	29763	c.29560G>C	c.(29560-29562)Gtt>Ctt	p.V9854L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9856	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATGTGAAAACAGTGGTATCG	0.468																																																	0													154.0	145.0	148.0					19																	9057886		2010	4183	6193	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.29560G>C	19.37:g.9057886C>G	ENSP00000381008:p.Val9854Leu	Somatic		WXS	SOLID	Phase_I	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	5.579	0.291676	0.10567	.	.	ENSG00000181143	ENST00000397910	T	0.35605	1.3	2.43	-4.75	0.03239	.	.	.	.	.	T	0.18551	0.0445	N	0.19112	0.55	.	.	.	B	0.02656	0.0	B	0.06405	0.002	T	0.23261	-1.0193	8	0.87932	D	0	.	4.0956	0.09990	0.0:0.2634:0.3471:0.3895	.	9854	B5ME49	.	L	9854	ENSP00000381008:V9854L	ENSP00000381008:V9854L	V	-	1	0	MUC16	8918886	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-5.919000	0.00090	-1.056000	0.03205	-0.232000	0.12228	GTT		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690	
MUC17	140453	hgsc.bcm.edu;ucsc.edu	37	7	100677944	100677944	+	Missense_Mutation	SNP	T	T	C	rs10264727	byFrequency	TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr7:100677944T>C	ENST00000306151.4	+	3	3311	c.3247T>C	c.(3247-3249)Tct>Cct	p.S1083P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1083	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGTTCATCTTCTACAACTGC	0.507																																																	0								C	PRO/SER	1107,3299		5,1097,1101	457.0	379.0	405.0		3247	-1.5	0.0	7	dbSNP_119	405	933,7667		0,933,3367	no	missense	MUC17	NM_001040105.1	74	5,2030,4468	CC,CT,TT		10.8488,25.1248,15.6851	benign	1083/4494	100677944	2040,10966	2203	4300	6503	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3247T>C	7.37:g.100677944T>C	ENSP00000302716:p.Ser1083Pro	Somatic		WXS	SOLID	Phase_I	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.509	-0.867515	0.02590	0.251248	0.108488	ENSG00000169876	ENST00000306151	T	0.02656	4.21	0.74	-1.48	0.08745	.	.	.	.	.	T	0.00012	0.0000	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30679	-0.9970	9	0.02654	T	1	.	2.5705	0.04793	0.3829:0.1792:0.0:0.4379	rs10264727	1083	Q685J3	MUC17_HUMAN	P	1083	ENSP00000302716:S1083P	ENSP00000302716:S1083P	S	+	1	0	MUC17	100464664	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.501000	0.00450	-2.418000	0.00566	-1.386000	0.01163	TCT		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1		NM_001040105	
MUC6	4588	hgsc.bcm.edu	37	11	1016991	1016991	+	Missense_Mutation	SNP	T	T	G	rs72311383|rs74788171	byFrequency	TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr11:1016991T>G	ENST00000421673.2	-	31	5860	c.5810A>C	c.(5809-5811)aAc>aCc	p.N1937T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1937	Approximate repeats.|Thr-rich.			NITPKHTSTGTRTPV -> KITTNPTSIGSSTPM (in Ref. 5; AAA35866). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGGGTGATGTTGGTGGTAGA	0.557													T|||	2	0.000399361	0.0	0.0	5008	,	,		25974	0.002		0.0	False		,,,				2504	0.0																0													557.0	571.0	566.0					11																	1016991		2199	4294	6493	SO:0001583	missense	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5810A>C	11.37:g.1016991T>G	ENSP00000406861:p.Asn1937Thr	Somatic		WXS	SOLID	Phase_I	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.104302	0.00356	.	.	ENSG00000184956	ENST00000421673	T	0.17691	2.26	2.4	-1.53	0.08611	.	.	.	.	.	T	0.03827	0.0108	N	0.00648	-1.295	0.09310	N	1	B	0.13594	0.008	B	0.18561	0.022	T	0.44922	-0.9296	9	0.13853	T	0.58	.	5.5029	0.16838	0.0:0.3657:0.4291:0.2051	.	1937	Q6W4X9	MUC6_HUMAN	T	1937	ENSP00000406861:N1937T	ENSP00000406861:N1937T	N	-	2	0	MUC6	1006991	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.460000	0.21924	-0.212000	0.10109	-1.123000	0.02005	AAC		0.557	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2		XM_290540	
NUB1	51667	hgsc.bcm.edu;ucsc.edu	37	7	151042440	151042440	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr7:151042440C>A	ENST00000355851.4	+	2	82	c.5C>A	c.(4-6)gCa>gAa	p.A2E	NUB1_ENST00000413040.2_Missense_Mutation_p.A26E|NUB1_ENST00000568733.1_Missense_Mutation_p.A26E|NUB1_ENST00000566856.1_Missense_Mutation_p.A2E	NM_001243351.1	NP_001230280.1	Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	2					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|response to interferon-gamma (GO:0034341)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		TCAGGGATGGCACAAAAGAAA	0.328																																																	0													48.0	47.0	47.0					7																	151042440		1815	4081	5896	SO:0001583	missense	51667			AF300717	CCDS47751.1, CCDS47751.2, CCDS59089.1	7q36	2006-07-27			ENSG00000013374	ENSG00000013374			17623	protein-coding gene	gene with protein product	"""NEDD8 ultimate buster-1"""	607981				10508479, 11259415	Standard	NM_001243351		Approved	BS4, NYREN18	uc003wjx.3	Q9Y5A7	OTTHUMG00000157365	ENST00000355851.4:c.5C>A	7.37:g.151042440C>A	ENSP00000348110:p.Ala2Glu	Somatic		WXS	SOLID	Phase_I	O95422|Q75MR9|Q8IX22|Q9BXR2	Missense_Mutation	SNP	ENST00000355851.4	37		.	.	.	.	.	.	.	.	.	.	C	19.54	3.847403	0.71603	.	.	ENSG00000013374	ENST00000413040;ENST00000355851;ENST00000470229;ENST00000490215;ENST00000483358	T;T;T	0.41065	1.01;1.01;1.01	4.62	4.62	0.57501	.	0.102412	0.64402	D	0.000004	T	0.62672	0.2447	M	0.67953	2.075	0.48901	D	0.999721	D;D;D	0.89917	1.0;0.997;0.996	D;D;D	0.91635	0.999;0.943;0.964	T	0.66248	-0.5971	10	0.87932	D	0	-3.6751	15.3677	0.74535	0.0:1.0:0.0:0.0	.	2;2;2	F8WDL9;Q9Y5A7;Q9Y5A7-2	.;NUB1_HUMAN;.	E	2	ENSP00000348110:A2E;ENSP00000418234:A2E;ENSP00000420086:A2E	ENSP00000348110:A2E	A	+	2	0	NUB1	150673373	0.999000	0.42202	0.998000	0.56505	0.930000	0.56654	4.542000	0.60677	2.558000	0.86282	0.655000	0.94253	GCA		0.328	NUB1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_016118	
OAS1	4938	hgsc.bcm.edu;ucsc.edu	37	12	113357353	113357353	+	Missense_Mutation	SNP	C	C	T	rs373092179		TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr12:113357353C>T	ENST00000202917.5	+	6	1461	c.1198C>T	c.(1198-1200)Ctc>Ttc	p.L400F	OAS1_ENST00000551241.1_Intron|RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000445409.2_Missense_Mutation_p.P367L	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	400					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						CTGCACCATCCTCTGAATGCC	0.522																																																	0								C	LEU/PRO,PHE/LEU	0,4406		0,0,2203	109.0	93.0	98.0		1100,1198	1.6	0.0	12		98	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	OAS1	NM_001032409.1,NM_016816.2	98,22	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	367/415,400/401	113357353	1,13005	2203	4300	6503	SO:0001583	missense	4938			X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"""2',5'-oligoadenylate synthetase 1 (40-46 kD)"""	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.1198C>T	12.37:g.113357353C>T	ENSP00000202917:p.Leu400Phe	Somatic		WXS	SOLID	Phase_I	A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Missense_Mutation	SNP	ENST00000202917.5	37	CCDS41838.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.339|8.339	0.828357|0.828357	0.16749|0.16749	0.0|0.0	1.16E-4|1.16E-4	ENSG00000089127|ENSG00000089127	ENST00000202917|ENST00000445409	T|T	0.06068|0.07444	3.35|3.19	3.55|3.55	1.58|1.58	0.23477|0.23477	.|.	.|12.085900	.|0.00166	.|N	.|0.000000	T|T	0.05044|0.05044	0.0135|0.0135	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|B	0.30033|0.21225	0.266|0.053	B|B	0.24394|0.17098	0.053|0.017	T|T	0.33497|0.33497	-0.9866|-0.9866	9|10	0.87932|0.22706	D|T	0|0.39	.|.	5.2818|5.2818	0.15680|0.15680	0.0:0.7077:0.0:0.2923|0.0:0.7077:0.0:0.2923	.|.	400|367	P00973|P00973-3	OAS1_HUMAN|.	F|L	400|367	ENSP00000202917:L400F|ENSP00000388001:P367L	ENSP00000202917:L400F|ENSP00000388001:P367L	L|P	+|+	1|2	0|0	OAS1|OAS1	111841736|111841736	0.011000|0.011000	0.17503|0.17503	0.004000|0.004000	0.12327|0.12327	0.005000|0.005000	0.04900|0.04900	-0.042000|-0.042000	0.12063|0.12063	0.435000|0.435000	0.26365|0.26365	-0.355000|-0.355000	0.07637|0.07637	CTC|CCT		0.522	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405896.2			
OLFM1	10439	hgsc.bcm.edu	37	9	137982084	137982084	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr9:137982084C>G	ENST00000371793.3	+	2	445	c.194C>G	c.(193-195)tCt>tGt	p.S65C	OLFM1_ENST00000277415.11_Missense_Mutation_p.S47C|OLFM1_ENST00000371796.3_Missense_Mutation_p.S38C|OLFM1_ENST00000392991.4_Missense_Mutation_p.S65C|OLFM1_ENST00000252854.4_Missense_Mutation_p.S47C	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	65					negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		GTGTACAGCTCTGCCCAGGAC	0.622																																																	0													59.0	50.0	53.0					9																	137982084		2203	4300	6503	SO:0001583	missense	10439			AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"""pancortin"""	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.194C>G	9.37:g.137982084C>G	ENSP00000360858:p.Ser65Cys	Somatic		WXS	SOLID	Phase_I	Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Missense_Mutation	SNP	ENST00000371793.3	37		.	.	.	.	.	.	.	.	.	.	C	26.6	4.755140	0.89843	.	.	ENSG00000130558	ENST00000277415;ENST00000252854;ENST00000339720;ENST00000371796;ENST00000392991;ENST00000371793	T;D;T;D;T;D	0.90004	0.59;-2.6;0.59;-2.6;0.59;-2.6	4.75	4.75	0.60458	.	0.116151	0.64402	D	0.000010	D	0.93363	0.7884	L	0.58810	1.83	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.996;0.999	D;D;D;D	0.91635	0.93;0.999;0.969;0.964	D	0.94185	0.7435	10	0.87932	D	0	.	18.1101	0.89533	0.0:1.0:0.0:0.0	.	65;65;47;47	Q99784;Q99784-2;Q6IMJ8;Q6IMJ7	NOE1_HUMAN;.;.;.	C	47;47;54;38;65;65	ENSP00000277415:S47C;ENSP00000252854:S47C;ENSP00000340318:S54C;ENSP00000360861:S38C;ENSP00000376717:S65C;ENSP00000360858:S65C	ENSP00000252854:S47C	S	+	2	0	OLFM1	137121905	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.556000	0.82233	2.309000	0.77851	0.655000	0.94253	TCT		0.622	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1		NM_014279	
OR52R1	119695	hgsc.bcm.edu	37	11	4825594	4825594	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr11:4825594C>G	ENST00000356069.2	-	1	16	c.17G>C	c.(16-18)gGg>gCg	p.G6A	MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000380382.1_Missense_Mutation_p.G85A|MMP26_ENST00000380390.1_Intron	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGAGCTGTTCCCTGAAGCCAG	0.463																																																	0													104.0	92.0	96.0					11																	4825594		2201	4298	6499	SO:0001583	missense	119695			BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"""GPCR / Class A : Olfactory receptors"""	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.17G>C	11.37:g.4825594C>G	ENSP00000348368:p.Gly6Ala	Somatic		WXS	SOLID	Phase_I	Q6IFI0	Missense_Mutation	SNP	ENST00000356069.2	37	CCDS31360.2	.	.	.	.	.	.	.	.	.	.	C	14.21	2.468123	0.43839	.	.	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.00368	9.81;7.76	5.57	0.586	0.17434	.	1.506670	0.04216	U	0.332617	T	0.00241	0.0007	N	0.25286	0.73	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.44802	-0.9304	10	0.72032	D	0.01	.	1.8086	0.03086	0.1274:0.3819:0.1242:0.3665	.	6	Q8NGF1	O52R1_HUMAN	A	6;85	ENSP00000348368:G6A;ENSP00000369742:G85A	ENSP00000348368:G6A	G	-	2	0	OR52R1	4782170	0.000000	0.05858	0.001000	0.08648	0.695000	0.40330	-1.073000	0.03430	0.183000	0.20059	0.650000	0.86243	GGG		0.463	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1		NM_001005177	
PCDH17	27253	hgsc.bcm.edu;ucsc.edu	37	13	58299308	58299308	+	Silent	SNP	G	G	A			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr13:58299308G>A	ENST00000377918.3	+	4	3386	c.3360G>A	c.(3358-3360)caG>caA	p.Q1120Q		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1120					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TTCTTGAGCAGCTTGACCACC	0.537																																					Melanoma(72;952 1291 1619 12849 33676)												0													172.0	177.0	176.0					13																	58299308		2203	4300	6503	SO:0001819	synonymous_variant	27253			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.3360G>A	13.37:g.58299308G>A		Somatic		WXS	SOLID	Phase_I	A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	ENST00000377918.3	37	CCDS31986.1																																																																																				0.537	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1		NM_001040429	
PELI2	57161	hgsc.bcm.edu	37	14	56746421	56746421	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr14:56746421A>G	ENST00000267460.4	+	3	521	c.235A>G	c.(235-237)Ata>Gta	p.I79V		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	79	FHA; atypical.				innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein phosphorylation (GO:0001934)|protein ubiquitination (GO:0016567)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)	ligase activity (GO:0016874)			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						TCAACACAGTATATCCTACAC	0.318																																																	0													135.0	133.0	133.0					14																	56746421		2203	4300	6503	SO:0001583	missense	57161			AF302502	CCDS9726.1	14q21	2012-02-23	2012-02-23		ENSG00000139946	ENSG00000139946		"""Pellino homologs"""	8828	protein-coding gene	gene with protein product		614798	"""pellino (Drosophila) homolog 2"", ""pellino homolog 2 (Drosophila)"""			11306823, 12860405	Standard	XM_006720211		Approved		uc001xch.3	Q9HAT8	OTTHUMG00000152336	ENST00000267460.4:c.235A>G	14.37:g.56746421A>G	ENSP00000267460:p.Ile79Val	Somatic		WXS	SOLID	Phase_I	B2RDY5	Missense_Mutation	SNP	ENST00000267460.4	37	CCDS9726.1	.	.	.	.	.	.	.	.	.	.	A	8.592	0.884720	0.17540	.	.	ENSG00000139946	ENST00000267460	T	0.41400	1.0	4.84	4.84	0.62591	.	0.141155	0.64402	D	0.000008	T	0.26122	0.0637	N	0.24115	0.695	0.48511	D	0.999662	B	0.06786	0.001	B	0.10450	0.005	T	0.07908	-1.0748	10	0.10636	T	0.68	-19.69	10.9339	0.47235	0.924:0.0:0.076:0.0	.	79	Q9HAT8	PELI2_HUMAN	V	79	ENSP00000267460:I79V	ENSP00000267460:I79V	I	+	1	0	PELI2	55816174	1.000000	0.71417	0.981000	0.43875	0.991000	0.79684	6.152000	0.71812	2.159000	0.67721	0.455000	0.32223	ATA		0.318	PELI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276925.1			
PHF12	57649	hgsc.bcm.edu	37	17	27233226	27233226	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr17:27233226A>G	ENST00000332830.4	-	15	3800	c.2990T>C	c.(2989-2991)gTg>gCg	p.V997A	PHF12_ENST00000577226.1_3'UTR	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GGAGCGCAGCACAGGGCCCTG	0.582																																																	0													37.0	45.0	42.0					17																	27233226		2203	4300	6503	SO:0001583	missense	57649			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.2990T>C	17.37:g.27233226A>G	ENSP00000329933:p.Val997Ala	Somatic		WXS	SOLID	Phase_I		Missense_Mutation	SNP	ENST00000332830.4	37	CCDS32598.1	.	.	.	.	.	.	.	.	.	.	a	13.88	2.369025	0.42003	.	.	ENSG00000109118	ENST00000332830	D	0.96554	-4.05	5.14	3.99	0.46301	.	0.000000	0.85682	D	0.000000	D	0.92704	0.7681	L	0.47716	1.5	0.80722	D	1	P;P	0.34662	0.462;0.462	B;B	0.31614	0.133;0.133	D	0.91456	0.5185	10	0.42905	T	0.14	-23.698	9.8648	0.41136	0.847:0.0:0.0:0.153	.	979;997	B4DFE2;Q96QT6	.;PHF12_HUMAN	A	997	ENSP00000329933:V997A	ENSP00000329933:V997A	V	-	2	0	PHF12	24257352	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.266000	0.58871	1.943000	0.56356	0.529000	0.55759	GTG		0.582	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1		NM_020889	
PPP1R12A	4659	hgsc.bcm.edu;ucsc.edu	37	12	80214666	80214666	+	Silent	SNP	A	A	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr12:80214666A>G	ENST00000450142.2	-	8	1268	c.1002T>C	c.(1000-1002)atT>atC	p.I334I	PPP1R12A_ENST00000550107.1_Silent_p.I334I|PPP1R12A_ENST00000437004.2_Silent_p.I334I|RP11-530C5.2_ENST00000548469.1_RNA|PPP1R12A_ENST00000546369.1_Silent_p.I247I|PPP1R12A_ENST00000261207.5_Silent_p.I334I	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	334					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						CCAGAGATTCAATACGGGATG	0.358																																																	0													128.0	117.0	120.0					12																	80214666		1862	4084	5946	SO:0001819	synonymous_variant	4659			D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7618	protein-coding gene	gene with protein product	"""myosin phosphatase-targeting subunit 1"", ""myosin binding subunit"""	602021	"""protein phosphatase 1, regulatory (inhibitor) subunit 12A"""	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.1002T>C	12.37:g.80214666A>G		Somatic		WXS	SOLID	Phase_I	B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Silent	SNP	ENST00000450142.2	37	CCDS44947.1																																																																																				0.358	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407254.2		NM_002480	
PSD3	23362	hgsc.bcm.edu	37	8	18662356	18662356	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr8:18662356T>G	ENST00000327040.8	-	5	1789	c.1687A>C	c.(1687-1689)Act>Cct	p.T563P	PSD3_ENST00000440756.2_Missense_Mutation_p.T563P|PSD3_ENST00000286485.8_Missense_Mutation_p.T29P|PSD3_ENST00000523619.1_Missense_Mutation_p.T498P	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	563	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		AAAATTTCAGTGCTCCCCATT	0.413																																																	0													163.0	167.0	166.0					8																	18662356		2203	4300	6503	SO:0001583	missense	23362			AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.1687A>C	8.37:g.18662356T>G	ENSP00000324127:p.Thr563Pro	Somatic		WXS	SOLID	Phase_I	A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	CCDS43720.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.77|14.77	2.634895|2.634895	0.47049|0.47049	.|.	.|.	ENSG00000156011|ENSG00000156011	ENST00000521027|ENST00000327040;ENST00000440756;ENST00000286485;ENST00000523619;ENST00000519851	.|T;T;T;T;T	.|0.19669	.|2.74;2.73;2.13;2.73;2.19	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.28962|0.28962	0.0719|0.0719	L|L	0.42245|0.42245	1.32|1.32	0.29933|0.29933	N|N	0.821692|0.821692	.|B;P	.|0.47604	.|0.372;0.898	.|B;P	.|0.49799	.|0.209;0.622	T|T	0.13045|0.13045	-1.0524|-1.0524	5|10	.|0.54805	.|T	.|0.06	.|.	14.5927|14.5927	0.68378|0.68378	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|563;29	.|E9KL50;Q9NYI0-3	.|.;.	P|P	10|563;563;29;498;4	.|ENSP00000324127:T563P;ENSP00000401704:T563P;ENSP00000286485:T29P;ENSP00000430640:T498P;ENSP00000429069:T4P	.|ENSP00000286485:T29P	H|T	-|-	2|1	0|0	PSD3|PSD3	18706636|18706636	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.713000|0.713000	0.41058|0.41058	3.054000|3.054000	0.49908|0.49908	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	CAC|ACT		0.413	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1		NM_015310	
RFC5	5985	hgsc.bcm.edu;ucsc.edu	37	12	118462688	118462688	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr12:118462688T>A	ENST00000454402.2	+	6	572	c.454T>A	c.(454-456)Tgc>Agc	p.C152S	RFC5_ENST00000392542.2_Missense_Mutation_p.C131S|RFC5_ENST00000229043.3_Missense_Mutation_p.C67S	NM_001206801.1|NM_007370.5	NP_001193730.1|NP_031396.1	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	152					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TACCAGATTCTGCCTCATCTG	0.448																																																	0													82.0	85.0	84.0					12																	118462688		2203	4300	6503	SO:0001583	missense	5985				CCDS9185.1, CCDS41843.2	12q24.3	2010-04-21	2002-08-29		ENSG00000111445	ENSG00000111445		"""ATPases / AAA-type"""	9973	protein-coding gene	gene with protein product		600407	"""replication factor C (activator 1) 5 (36.5kD)"""			7774928	Standard	NM_007370		Approved	RFC36	uc001twq.3	P40937	OTTHUMG00000156438	ENST00000454402.2:c.454T>A	12.37:g.118462688T>A	ENSP00000408295:p.Cys152Ser	Somatic		WXS	SOLID	Phase_I	A8MZ62|B3KSX8	Missense_Mutation	SNP	ENST00000454402.2	37	CCDS9185.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.802501	0.90538	.	.	ENSG00000111445	ENST00000449641;ENST00000537315;ENST00000229043;ENST00000454402;ENST00000392542	T;T;D	0.92805	1.29;0.98;-3.11	5.47	5.47	0.80525	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.96750	0.8939	M	0.91459	3.21	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.999	D	0.97593	1.0118	10	0.87932	D	0	-15.5631	14.5424	0.68005	0.0:0.0:0.0:1.0	.	131;166;152	A8MZ62;Q59GW7;P40937	.;.;RFC5_HUMAN	S	67;67;67;152;131	ENSP00000229043:C67S;ENSP00000408295:C152S;ENSP00000376325:C131S	ENSP00000229043:C67S	C	+	1	0	RFC5	116947071	1.000000	0.71417	0.998000	0.56505	0.833000	0.47200	7.934000	0.87649	2.071000	0.62044	0.460000	0.39030	TGC		0.448	RFC5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344196.2		NM_007370	
SERAC1	84947	hgsc.bcm.edu	37	6	158565367	158565367	+	Silent	SNP	A	A	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr6:158565367A>G	ENST00000367104.3	-	7	704	c.573T>C	c.(571-573)ttT>ttC	p.F191F	SERAC1_ENST00000367101.1_Silent_p.F191F|SERAC1_ENST00000367102.2_Silent_p.F191F	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	191					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		GTAGGAGAAAAAAGCGAAGAT	0.333																																																	0													79.0	82.0	81.0					6																	158565367		2203	4300	6503	SO:0001819	synonymous_variant	84947			BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.573T>C	6.37:g.158565367A>G		Somatic		WXS	SOLID	Phase_I	Q49AT1|Q5VTX3|Q6PKF3	Silent	SNP	ENST00000367104.3	37	CCDS5255.1																																																																																				0.333	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1		NM_032861	
SI	6476	hgsc.bcm.edu;ucsc.edu	37	3	164741459	164741459	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr3:164741459G>A	ENST00000264382.3	-	26	3060	c.2998C>T	c.(2998-3000)Caa>Taa	p.Q1000*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1000	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GTATTTAGTTGGAGGTCAGCT	0.398										HNSCC(35;0.089)																																							0													139.0	132.0	134.0					3																	164741459		2203	4300	6503	SO:0001587	stop_gained	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2998C>T	3.37:g.164741459G>A	ENSP00000264382:p.Gln1000*	Somatic		WXS	SOLID	Phase_I	A2RUC3|Q1JQ80|Q1RMC2	Nonsense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	37	6.175857	0.97348	.	.	ENSG00000090402	ENST00000264382	.	.	.	5.53	-2.43	0.06522	.	0.854793	0.10559	N	0.660551	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	2.4282	0.04465	0.1298:0.1763:0.3039:0.3901	.	.	.	.	X	1000	.	ENSP00000264382:Q1000X	Q	-	1	0	SI	166224153	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.022000	0.12480	-0.100000	0.12241	-0.176000	0.13171	CAA		0.398	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1		NM_001041	
SLC22A7	10864	hgsc.bcm.edu	37	6	43271898	43271898	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr6:43271898T>C	ENST00000372585.5	+	10	1603	c.1508T>C	c.(1507-1509)cTg>cCg	p.L503P	SLC22A7_ENST00000372574.3_Missense_Mutation_p.L501P|SLC22A7_ENST00000372589.3_Missense_Mutation_p.L501P|ZNF318_ENST00000607252.1_5'Flank	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	503					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GGGATCGCCCTGCTGGCTGCC	0.657																																																	0													63.0	72.0	69.0					6																	43271898		2203	4299	6502	SO:0001583	missense	10864			AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"""Solute carriers"""	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.1508T>C	6.37:g.43271898T>C	ENSP00000361666:p.Leu503Pro	Somatic		WXS	SOLID	Phase_I	B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	ENST00000372585.5	37	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	T	21.7	4.186809	0.78789	.	.	ENSG00000137204	ENST00000372589;ENST00000372585;ENST00000372574;ENST00000436107	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.25	5.25	0.73442	.	0.278152	0.31246	N	0.007985	T	0.78419	0.4280	M	0.92367	3.3	0.80722	D	1	D;D	0.63046	0.992;0.992	D;D	0.66602	0.945;0.945	D	0.84265	0.0485	10	0.87932	D	0	.	12.6659	0.56842	0.0:0.0:0.0:1.0	.	501;501	Q9Y694-2;Q9Y694-3	.;.	P	501;503;501;196	ENSP00000361670:L501P;ENSP00000361666:L503P;ENSP00000361655:L501P;ENSP00000393836:L196P	ENSP00000361655:L501P	L	+	2	0	SLC22A7	43379876	0.621000	0.27077	0.966000	0.40874	0.880000	0.50808	4.826000	0.62715	1.982000	0.57802	0.402000	0.26972	CTG		0.657	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1			
SLC7A4	6545	hgsc.bcm.edu	37	22	21385634	21385634	+	Silent	SNP	G	G	A			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr22:21385634G>A	ENST00000382932.2	-	2	535	c.468C>T	c.(466-468)caC>caT	p.H156H	MIR649_ENST00000384843.1_RNA|AC002472.11_ENST00000450652.1_RNA|SLC7A4_ENST00000403586.1_Silent_p.H156H	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	156				THVGSWQVPLLGHYPDFLAAGIILLASAFVSCGARVSS -> DPRGFLAGAPPGPLPGLPGCWHHPPWPLPLSPVEPACPP (in Ref. 1; CAA04263). {ECO:0000305}.	basic amino acid transport (GO:0015802)|cellular amino acid metabolic process (GO:0006520)|transport (GO:0006810)	integral component of membrane (GO:0016021)	basic amino acid transmembrane transporter activity (GO:0015174)	p.H156Q(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AAGAACCCACGTGGGTCTCAG	0.632																																																	1	Substitution - Missense(1)	lung(1)											33.0	35.0	35.0					22																	21385634		2203	4299	6502	SO:0001819	synonymous_variant	6545			AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960		"""Solute carriers"""	11062	protein-coding gene	gene with protein product		603752	"""solute carrier family 7 (cationic amino acid transporter, y+ system), member 4"", ""solute carrier family 7 (orphan transporter), member 4"""			9598310, 11665818	Standard	NM_004173		Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.468C>T	22.37:g.21385634G>A		Somatic		WXS	SOLID	Phase_I	Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Silent	SNP	ENST00000382932.2	37	CCDS33608.1																																																																																				0.632	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320467.1		NM_004173	
SLU7	10569	hgsc.bcm.edu	37	5	159840612	159840612	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr5:159840612C>T	ENST00000297151.4	-	5	808	c.421G>A	c.(421-423)Gga>Aga	p.G141R		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	141					alternative mRNA splicing, via spliceosome (GO:0000380)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	pre-mRNA 3'-splice site binding (GO:0030628)|second spliceosomal transesterification activity (GO:0000386)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AATTTGGCTCCAACTCGCCTA	0.403																																																	0													92.0	86.0	88.0					5																	159840612		2203	4300	6503	SO:0001583	missense	10569			AF101074	CCDS4352.1	5q33.3	2010-04-13			ENSG00000164609	ENSG00000164609			16939	protein-coding gene	gene with protein product	zinc knuckle motif containing	605974				10197984, 15728250	Standard	NM_006425		Approved	9G8	uc003lyg.3	O95391	OTTHUMG00000130324	ENST00000297151.4:c.421G>A	5.37:g.159840612C>T	ENSP00000297151:p.Gly141Arg	Somatic		WXS	SOLID	Phase_I	D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	Missense_Mutation	SNP	ENST00000297151.4	37	CCDS4352.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954505	0.73902	.	.	ENSG00000164609	ENST00000297151;ENST00000521826	T;T	0.56941	1.32;0.43	5.56	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.76285	0.3966	M	0.91972	3.26	0.80722	D	1	D	0.71674	0.998	D	0.66602	0.945	T	0.81953	-0.0697	10	0.59425	D	0.04	-17.6121	14.3914	0.66981	0.0:0.9289:0.0:0.0711	.	141	O95391	SLU7_HUMAN	R	141	ENSP00000297151:G141R;ENSP00000428943:G141R	ENSP00000297151:G141R	G	-	1	0	SLU7	159773190	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	7.390000	0.79816	1.352000	0.45808	-0.253000	0.11424	GGA		0.403	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252673.1		NM_006425	
SMARCB1	6598	hgsc.bcm.edu	37	22	24159114	24159114	+	Silent	SNP	C	C	A			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr22:24159114C>A	ENST00000263121.7	+	6	982	c.786C>A	c.(784-786)gtC>gtA	p.V262V	SMARCB1_ENST00000407082.3_Silent_p.V216V|SMARCB1_ENST00000407422.3_Silent_p.V253V|SMARCB1_ENST00000477836.1_3'UTR|SMARCB1_ENST00000344921.6_Silent_p.V271V	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	262	2 X approximate tandem repeats.				ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(3)|p.E210fs*15(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				ACCAGCGCGTCATCATCAAGG	0.602			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid																																	yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"""		M	4	Unknown(3)|Deletion - Frameshift(1)	central_nervous_system(3)|soft_tissue(1)											96.0	72.0	80.0					22																	24159114		2203	4300	6503	SO:0001819	synonymous_variant	6598			U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"""sucrose nonfermenting, yeast, homolog-like 1"", ""integrase interactor 1"", ""malignant rhabdoid tumor suppressor"", ""protein phosphatase 1, regulatory subunit 144"""	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.786C>A	22.37:g.24159114C>A		Somatic		WXS	SOLID	Phase_I	O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Silent	SNP	ENST00000263121.7	37	CCDS13817.1																																																																																				0.602	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1		NM_003073	
SMO	6608	hgsc.bcm.edu	37	7	128849218	128849218	+	Silent	SNP	C	C	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr7:128849218C>G	ENST00000249373.3	+	8	1726	c.1446C>G	c.(1444-1446)cgC>cgG	p.R482R	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	482					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	AGTGGGAGCGCAGCTTCCGGG	0.587			Mis		skin basal cell																																			Dom	yes		7	7q31-q32	6608	smoothened homolog (Drosophila)		E	0													106.0	89.0	94.0					7																	128849218		2203	4300	6503	SO:0001819	synonymous_variant	6608			U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"""GPCR / Class F : Frizzled receptors"""	11119	protein-coding gene	gene with protein product	"""frizzled family member 11"""	601500	"""smoothened (Drosophila) homolog"", ""smoothened homolog (Drosophila)"", ""smoothened, seven transmembrane spanning receptor"", ""smoothened, frizzled family receptor"""	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.1446C>G	7.37:g.128849218C>G		Somatic		WXS	SOLID	Phase_I	A4D1K5	Silent	SNP	ENST00000249373.3	37	CCDS5811.1																																																																																				0.587	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1		NM_005631	
SPIRE1	56907	hgsc.bcm.edu	37	18	12454459	12454459	+	Silent	SNP	T	T	C			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr18:12454459T>C	ENST00000409402.4	-	13	1929	c.1662A>G	c.(1660-1662)gaA>gaG	p.E554E	SPIRE1_ENST00000453447.2_Silent_p.E420E|SPIRE1_ENST00000410092.3_Silent_p.E540E|SPIRE1_ENST00000383356.2_Silent_p.E381E|SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000309836.5_Silent_p.E343E	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1											breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						GAGCGAGGCATTCCACTGGGT	0.453																																																	0													148.0	135.0	140.0					18																	12454459		2203	4300	6503	SO:0001819	synonymous_variant	56907			AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"""spire homolog 1 (Drosophila)"", ""spire family actin nucleation factor 1"""			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.1662A>G	18.37:g.12454459T>C		Somatic		WXS	SOLID	Phase_I		Silent	SNP	ENST00000409402.4	37	CCDS45829.1																																																																																				0.453	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333109.2		XM_290818	
STIM1	6786	hgsc.bcm.edu;ucsc.edu	37	11	3988829	3988829	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr11:3988829C>G	ENST00000300737.4	+	2	756	c.187C>G	c.(187-189)Ctc>Gtc	p.L63V	STIM1_ENST00000527651.1_Missense_Mutation_p.L63V	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	63	EF-hand.				activation of store-operated calcium channel activity (GO:0032237)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|regulation of calcium ion transport (GO:0051924)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)|microtubule (GO:0005874)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|microtubule plus-end binding (GO:0051010)|store-operated calcium channel activity (GO:0015279)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		GGATGAGAAACTCAGCTTCGA	0.478																																																	0													211.0	183.0	193.0					11																	3988829		2201	4298	6499	SO:0001583	missense	6786			BC021300, U52426	CCDS7749.1, CCDS60706.1, CCDS73247.1	11p15.5	2014-09-17			ENSG00000167323	ENSG00000167323		"""Sterile alpha motif (SAM) domain containing"""	11386	protein-coding gene	gene with protein product		605921				8921403, 11463338, 11983428	Standard	NM_003156		Approved	GOK, D11S4896E	uc021qco.1	Q13586	OTTHUMG00000133360	ENST00000300737.4:c.187C>G	11.37:g.3988829C>G	ENSP00000300737:p.Leu63Val	Somatic		WXS	SOLID	Phase_I	E9PQJ4|Q8N382	Missense_Mutation	SNP	ENST00000300737.4	37	CCDS7749.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.660197	0.88154	.	.	ENSG00000167323	ENST00000300737;ENST00000527651	T;T	0.80653	-0.38;-1.4	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.89424	0.6711	M	0.73962	2.25	0.80722	D	1	P;P	0.39535	0.677;0.677	P;P	0.59012	0.85;0.85	D	0.89080	0.3475	10	0.72032	D	0.01	-9.6939	17.776	0.88508	0.0:1.0:0.0:0.0	.	63;63	E9PQJ4;Q13586	.;STIM1_HUMAN	V	63	ENSP00000300737:L63V;ENSP00000436208:L63V	ENSP00000300737:L63V	L	+	1	0	STIM1	3945405	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.279000	0.78599	2.806000	0.96561	0.655000	0.94253	CTC		0.478	STIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257196.1		NM_003156	
STK31	56164	hgsc.bcm.edu;ucsc.edu	37	7	23821077	23821077	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr7:23821077G>T	ENST00000355870.3	+	16	2124	c.2005G>T	c.(2005-2007)Gaa>Taa	p.E669*	STK31_ENST00000354639.3_Nonsense_Mutation_p.E646*|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Nonsense_Mutation_p.E646*|STK31_ENST00000433467.2_Nonsense_Mutation_p.E669*	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	669						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GAAAATAAAAGAAGAAATAAC	0.299																																																	0													64.0	71.0	68.0					7																	23821077		2203	4292	6495	SO:0001587	stop_gained	56164			AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.2005G>T	7.37:g.23821077G>T	ENSP00000348132:p.Glu669*	Somatic		WXS	SOLID	Phase_I	B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Nonsense_Mutation	SNP	ENST00000355870.3	37	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	G	38	7.091110	0.98055	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	.	.	.	5.07	3.2	0.36748	.	0.372764	0.26140	N	0.026109	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-1.6284	13.8347	0.63402	0.0:0.3691:0.6309:0.0	.	.	.	.	X	669;669;646;646	.	ENSP00000346660:E646X	E	+	1	0	STK31	23787602	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	2.870000	0.48451	1.136000	0.42199	-0.499000	0.04595	GAA		0.299	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2		NM_031414	
TARBP1	6894	hgsc.bcm.edu	37	1	234553902	234553902	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr1:234553902T>C	ENST00000040877.1	-	22	3632	c.3633A>G	c.(3631-3633)atA>atG	p.I1211M		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1211					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TAATCCATTCTATAAAATATT	0.264																																																	0													22.0	26.0	24.0					1																	234553902		2181	4262	6443	SO:0001583	missense	6894				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.3633A>G	1.37:g.234553902T>C	ENSP00000040877:p.Ile1211Met	Somatic		WXS	SOLID	Phase_I	Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	T	12.32	1.902682	0.33628	.	.	ENSG00000059588	ENST00000040877	T	0.32515	1.45	4.88	1.1	0.20463	Armadillo-type fold (1);	0.162161	0.51477	D	0.000082	T	0.19846	0.0477	L	0.47716	1.5	0.46499	D	0.999077	P	0.49253	0.921	B	0.42882	0.401	T	0.25916	-1.0118	10	0.11182	T	0.66	-13.9908	3.58	0.07949	0.1333:0.0736:0.1393:0.6538	.	1211	Q13395	TARB1_HUMAN	M	1211	ENSP00000040877:I1211M	ENSP00000040877:I1211M	I	-	3	3	TARBP1	232620525	1.000000	0.71417	0.991000	0.47740	0.989000	0.77384	1.963000	0.40452	0.016000	0.14998	0.383000	0.25322	ATA		0.264	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1		NM_005646	
TMEM102	284114	hgsc.bcm.edu	37	17	7339626	7339626	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr17:7339626G>C	ENST00000323206.1	+	3	601	c.328G>C	c.(328-330)Gcc>Ccc	p.A110P	RP11-104H15.7_ENST00000575310.1_RNA|RP11-104H15.8_ENST00000576615.1_RNA|TMEM102_ENST00000396568.1_Missense_Mutation_p.A110P|RP11-104H15.9_ENST00000570444.1_RNA|FGF11_ENST00000293829.4_5'Flank|FGF11_ENST00000575235.1_5'Flank	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	110			A -> V (in dbSNP:rs3809718).		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)				GGGTCCCTACGCCCGGGGACC	0.622																																																	0													52.0	57.0	55.0					17																	7339626		2203	4300	6503	SO:0001583	missense	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.328G>C	17.37:g.7339626G>C	ENSP00000315387:p.Ala110Pro	Somatic		WXS	SOLID	Phase_I	D3DTP8	Missense_Mutation	SNP	ENST00000323206.1	37	CCDS11104.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164508	0.57476	.	.	ENSG00000181284	ENST00000323206;ENST00000396568	T;T	0.51817	0.69;0.69	5.66	-5.74	0.02391	.	1.349380	0.04583	N	0.395255	T	0.43964	0.1271	L	0.39898	1.24	0.09310	N	0.999996	P	0.52842	0.956	P	0.49708	0.62	T	0.54330	-0.8310	10	0.62326	D	0.03	-4.9548	7.8389	0.29387	0.5863:0.0:0.295:0.1187	.	110	Q8N9M5	TM102_HUMAN	P	110	ENSP00000315387:A110P;ENSP00000379815:A110P	ENSP00000315387:A110P	A	+	1	0	TMEM102	7280350	0.002000	0.14202	0.008000	0.14137	0.995000	0.86356	0.044000	0.13992	-1.133000	0.02903	0.655000	0.94253	GCC		0.622	TMEM102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256405.1		NM_178518	
TP53BP1	7158	hgsc.bcm.edu	37	15	43738686	43738686	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr15:43738686G>A	ENST00000263801.3	-	14	3176	c.2924C>T	c.(2923-2925)tCt>tTt	p.S975F	TP53BP1_ENST00000605155.1_5'Flank|TP53BP1_ENST00000382044.4_Missense_Mutation_p.S980F|TP53BP1_ENST00000450115.2_Missense_Mutation_p.S980F|TP53BP1_ENST00000382039.3_Missense_Mutation_p.S980F	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	975					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|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 transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGCAGCCCCAGAATCCCCTTT	0.468								Other conserved DNA damage response genes																																									0													101.0	101.0	101.0					15																	43738686		2201	4298	6499	SO:0001583	missense	7158			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.2924C>T	15.37:g.43738686G>A	ENSP00000263801:p.Ser975Phe	Somatic		WXS	SOLID	Phase_I	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.020236	0.75275	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.12879	3.44;3.44;3.41;3.44;2.64	5.47	5.47	0.80525	.	0.247893	0.37053	N	0.002278	T	0.32071	0.0817	M	0.74881	2.28	0.48830	D	0.999711	D;P;P;P	0.55385	0.971;0.828;0.892;0.892	P;B;P;P	0.52909	0.713;0.44;0.643;0.643	T	0.03130	-1.1069	10	0.72032	D	0.01	-6.5825	18.6892	0.91577	0.0:0.0:1.0:0.0	.	980;975;980;980	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	F	975;980;980;980;940	ENSP00000263801:S975F;ENSP00000371475:S980F;ENSP00000371470:S980F;ENSP00000393497:S980F;ENSP00000388028:S940F	ENSP00000263801:S975F	S	-	2	0	TP53BP1	41525978	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.574000	0.53863	2.729000	0.93468	0.655000	0.94253	TCT		0.468	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			
TRPM2	7226	hgsc.bcm.edu	37	21	45798894	45798894	+	Silent	SNP	C	C	A			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr21:45798894C>A	ENST00000397928.1	+	8	1474	c.1029C>A	c.(1027-1029)gcC>gcA	p.A343A	TRPM2_ENST00000300481.9_Silent_p.A343A|TRPM2_ENST00000397932.2_Silent_p.A343A|TRPM2_ENST00000300482.5_Silent_p.A343A|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	343					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TCGACAACGCCACCACCAACG	0.627																																																	0													66.0	60.0	62.0					21																	45798894		2203	4300	6503	SO:0001819	synonymous_variant	7226			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.1029C>A	21.37:g.45798894C>A		Somatic		WXS	SOLID	Phase_I	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	ENST00000397928.1	37	CCDS13710.1																																																																																				0.627	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1		NM_003307	
CEP41	95681	hgsc.bcm.edu;ucsc.edu	37	7	130056770	130056770	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr7:130056770C>G	ENST00000223208.5	-	3	405	c.135G>C	c.(133-135)gaG>gaC	p.E45D	CEP41_ENST00000541543.1_Intron|CEP41_ENST00000343969.5_Missense_Mutation_p.E45D	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	45					cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein polyglutamylation (GO:0018095)|protein transport (GO:0015031)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|primary cilium (GO:0072372)											TTTTCTTAATCTCTTCGAGCT	0.333																																																	0													123.0	118.0	120.0					7																	130056770		2202	4299	6501	SO:0001583	missense	0			AJ278890	CCDS5821.1, CCDS59078.1, CCDS59079.1, CCDS59080.1	7q32	2014-02-20	2011-10-04	2011-10-04	ENSG00000106477	ENSG00000106477			12370	protein-coding gene	gene with protein product		610523	"""testis specific, 14"""	TSGA14		14654843, 22246503	Standard	NM_018718		Approved	DKFZp762H1311, FLJ22445, JBTS15	uc003vpz.4	Q9BYV8	OTTHUMG00000157823	ENST00000223208.5:c.135G>C	7.37:g.130056770C>G	ENSP00000223208:p.Glu45Asp	Somatic		WXS	SOLID	Phase_I	A4D1M0|B4DQ35|F5H0V6|Q7Z496|Q86TM1|Q8NFU8|Q9H6A3|Q9NPV3	Missense_Mutation	SNP	ENST00000223208.5	37	CCDS5821.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.297204	0.40694	.	.	ENSG00000106477	ENST00000223208;ENST00000343969;ENST00000492389;ENST00000472739;ENST00000477003;ENST00000475282;ENST00000469826	D;D;D;D;D;D;T	0.89746	-2.56;-2.54;-2.17;-2.17;-2.2;-1.8;-1.22	5.71	3.89	0.44902	.	0.113385	0.64402	D	0.000017	D	0.85080	0.5615	M	0.62723	1.935	0.80722	D	1	B;B	0.26483	0.146;0.15	B;B	0.27887	0.084;0.039	T	0.79600	-0.1736	10	0.23891	T	0.37	-24.242	8.9824	0.35972	0.0:0.826:0.0:0.174	.	45;45	Q9BYV8-2;Q9BYV8	.;CEP41_HUMAN	D	45;45;10;10;42;10;32	ENSP00000223208:E45D;ENSP00000342738:E45D;ENSP00000419192:E10D;ENSP00000417593:E10D;ENSP00000420670:E42D;ENSP00000418363:E10D;ENSP00000418712:E32D	ENSP00000223208:E45D	E	-	3	2	TSGA14	129844006	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.120000	0.31271	1.413000	0.46997	0.655000	0.94253	GAG		0.333	CEP41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349702.2		NM_018718	
TUBA3D	113457	hgsc.bcm.edu	37	2	132238286	132238286	+	Silent	SNP	C	C	T	rs111626841	byFrequency	TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr2:132238286C>T	ENST00000321253.6	+	4	1127	c.1020C>T	c.(1018-1020)acC>acT	p.T340T		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	340					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CCAAGCGCACCATCCAGTTTG	0.562													.|||	839	0.167532	0.4592	0.1037	5008	,	,		15998	0.004		0.0924	False		,,,				2504	0.0644				Ovarian(137;2059 2432 35543 39401)												0								T		1721,2685	627.4+/-394.9	382,957,864	78.0	81.0	80.0		1020	1.5	1.0	2	dbSNP_132	80	712,7888	779.9+/-407.7	41,630,3629	no	coding-synonymous	TUBA3D	NM_080386.2		423,1587,4493	TT,TC,CC		8.2791,39.0604,18.7068		340/451	132238286	2433,10573	2203	4300	6503	SO:0001819	synonymous_variant	113457			K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"""Tubulins"""	24071	protein-coding gene	gene with protein product	"""alpha-tubulin isotype H2-alpha"""					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.1020C>T	2.37:g.132238286C>T		Somatic		WXS	SOLID	Phase_I	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000321253.6	37	CCDS33290.1																																																																																				0.562	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2		NM_080386	
USP43	124739	hgsc.bcm.edu	37	17	9631914	9631916	+	In_Frame_Del	DEL	GGG	GGG	-			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	GGG	GGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr17:9631914_9631916delGGG	ENST00000285199.7	+	15	3075_3077	c.2979_2981delGGG	c.(2977-2982)cagggg>cag	p.G994del	USP43_ENST00000570475.1_In_Frame_Del_p.G989del|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	994					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GACCCCTGCAGGGGACACTCACC	0.581																																																	0																																										SO:0001651	inframe_deletion	124739			AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"""Ubiquitin-specific peptidases"""	20072	protein-coding gene	gene with protein product			"""ubiquitin specific protease 43"""			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.2979_2981delGGG	17.37:g.9631914_9631916delGGG	ENSP00000285199:p.Gly994del	Somatic		WXS	SOLID	Phase_I	A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	In_Frame_Del	DEL	ENST00000285199.7	37	CCDS45610.1																																																																																				0.581	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3		NM_153210	
ZNF337	26152	hgsc.bcm.edu	37	20	25655968	25655968	+	Silent	SNP	C	C	T			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr20:25655968C>T	ENST00000376436.1	-	4	2495	c.1956G>A	c.(1954-1956)ggG>ggA	p.G652G	RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Silent_p.G620G|RP4-694B14.5_ENST00000421829.1_RNA|ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000252979.5_Silent_p.G652G|RP4-694B14.5_ENST00000428254.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	652					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(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGGGCTTCTCCCCTGAGTGTG	0.527																																																	0													82.0	80.0	81.0					20																	25655968		2203	4300	6503	SO:0001819	synonymous_variant	26152				CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.1956G>A	20.37:g.25655968C>T		Somatic		WXS	SOLID	Phase_I	B4DSM2|Q9Y3Y5	Silent	SNP	ENST00000376436.1	37	CCDS13174.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.809542	0.31961	.	.	ENSG00000130684	ENST00000376412	.	.	.	1.13	0.113	0.14631	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.3842	0.16208	0.0:0.7807:0.0:0.2193	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF337	25603968	0.001000	0.12720	0.024000	0.17045	0.921000	0.55340	-1.113000	0.03296	0.045000	0.15804	0.298000	0.19748	.		0.527	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			
ZNF682	91120	hgsc.bcm.edu;ucsc.edu	37	19	20117844	20117844	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr19:20117844T>A	ENST00000397165.2	-	4	627	c.467A>T	c.(466-468)aAa>aTa	p.K156I	ZNF682_ENST00000595736.1_Missense_Mutation_p.K80I|ZNF682_ENST00000358523.5_Missense_Mutation_p.K124I|ZNF682_ENST00000597972.1_Missense_Mutation_p.K162I|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000397162.1_Missense_Mutation_p.K124I	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	156					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						ATTTGATGATTTACTAAAGAC	0.299																																																	0													67.0	63.0	64.0					19																	20117844		1812	4076	5888	SO:0001583	missense	91120			AC006539	CCDS42533.1, CCDS42534.1	19p12	2014-02-13			ENSG00000197124	ENSG00000197124		"""Zinc fingers, C2H2-type"", ""-"""	28857	protein-coding gene	gene with protein product							Standard	NM_033196		Approved	BC39498_3	uc002noq.3	O95780	OTTHUMG00000182650	ENST00000397165.2:c.467A>T	19.37:g.20117844T>A	ENSP00000380351:p.Lys156Ile	Somatic		WXS	SOLID	Phase_I	B3KU64|E9PFJ5|Q96JV9	Missense_Mutation	SNP	ENST00000397165.2	37	CCDS42533.1	.	.	.	.	.	.	.	.	.	.	T	5.628	0.300516	0.10678	.	.	ENSG00000197124	ENST00000397165;ENST00000397162;ENST00000358523	T;T;T	0.52295	0.67;0.67;0.67	1.23	1.23	0.21249	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43122	0.1233	M	0.76328	2.33	0.09310	N	1	B	0.24092	0.097	B	0.20384	0.029	T	0.44651	-0.9314	9	0.56958	D	0.05	.	4.0246	0.09682	0.0:0.0:0.3777:0.6222	.	156	O95780	ZN682_HUMAN	I	156;124;124	ENSP00000380351:K156I;ENSP00000380348:K124I;ENSP00000351324:K124I	ENSP00000351324:K124I	K	-	2	0	ZNF682	19978844	0.000000	0.05858	0.011000	0.14972	0.006000	0.05464	-0.630000	0.05502	0.532000	0.28657	0.358000	0.22013	AAA		0.299	ZNF682-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462888.1		NM_033196	
ZNF845	91664	hgsc.bcm.edu	37	19	53856496	53856496	+	Silent	SNP	A	A	G			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr19:53856496A>G	ENST00000595091.1	+	5	2787	c.2568A>G	c.(2566-2568)gaA>gaG	p.E856E	ZNF845_ENST00000458035.1_Silent_p.E856E			Q96IR2	ZN845_HUMAN	zinc finger protein 845	856					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ATACTGGAGAAAAACCTTACA	0.383																																																	0													33.0	32.0	32.0					19																	53856496		692	1591	2283	SO:0001819	synonymous_variant	91664			BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2568A>G	19.37:g.53856496A>G		Somatic		WXS	SOLID	Phase_I		Silent	SNP	ENST00000595091.1	37	CCDS46170.1																																																																																				0.383	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1		XM_039908	
PBRM1	55193	ucsc.edu	37	3	52676048	52676048	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AK-3425-01A-02D-1361-10	TCGA-AK-3425-10A-01D-1361-10	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM	.		Illumina GAIIx	a806567e-5877-4a25-964b-34fd55c2dc53	0d33d80e-21da-45e8-b3bc-1b9084b8043a	g.chr3:52676048delC	ENST00000296302.7	-	10	1010	c.1009delG	c.(1009-1011)gtafs	p.V337fs	PBRM1_ENST00000409114.3_Frame_Shift_Del_p.V337fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.V305fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.V337fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.V337fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.V337fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.V337fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.V337fs			Q86U86	PB1_HUMAN	polybromo 1	337					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.A336fs*25(2)|p.A304fs*25(1)		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)		CCTCCTTGTACTGCTCTTTTA	0.353			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	.		Rec	yes		3	3p21	55193	polybromo 1		E	3	Complex - frameshift(3)	kidney(3)											212.0	201.0	205.0					3																	52676048		2203	4300	6503	SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1009delG	3.37:g.52676048delC	ENSP00000296302:p.Val337fs	Somatic		WXS	SOLID	.	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.353	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
