#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_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	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_Codon	i_COSMIC_Gene	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	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_Start_position_hg18	i_TranscriptID	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_refseq_mrna_id	i_secondary_variant_classification
WNT16	51384	hgsc.bcm.edu	37	7	120971878	120971879	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr7:120971878_120971879insG	ENST00000222462.2	+	3	783_784	c.493_494insG	c.(493-495)tggfs	p.W165fs	WNT16_ENST00000361301.2_Frame_Shift_Ins_p.W155fs	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	165					bone remodeling (GO:0046849)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|optic cup formation involved in camera-type eye development (GO:0003408)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|replicative senescence (GO:0090399)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.C168fs*4(2)|p.G167fs*17(1)		breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					AGGCTGGCACTGGGGGGGCTGC	0.535																																					p.W155fs												.	.	3	Insertion - Frameshift(2)|Deletion - Frameshift(1)	ovary(1)|lung(1)|large_intestine(1)	c.463_464insG	7						.																																			120759115	SO:0001589	frameshift_variant	51384	exon3			AF152584	CCDS5780.1, CCDS5781.1	7q31	2008-07-18			ENSG00000002745	ENSG00000002745		"""Wingless-type MMTV integration sites"""	16267	protein-coding gene	gene with protein product		606267				10500199	Standard	NM_016087		Approved		uc003vjw.3	Q9UBV4	OTTHUMG00000156963	ENST00000222462.2:c.500dupG	7.37:g.120971885_120971885dupG	ENSP00000222462:p.Trp165fs	Somatic		Capture	SOLID	Phase_I	120759114	NM_016087	Q2M3G1|Q9Y5C0	Frame_Shift_Ins	INS	ENST00000222462.2	37	CCDS5781.1																																																																																				0.535	WNT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346843.1	NM_057168	
GAL3ST4	79690	hgsc.bcm.edu	37	7	99758315	99758316	+	Frame_Shift_Ins	INS	-	-	G	rs376149350		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr7:99758315_99758316insG	ENST00000360039.4	-	4	1088_1089	c.696_697insC	c.(694-699)cccagafs	p.R233fs	C7orf43_ENST00000457641.1_5'Flank|GAL3ST4_ENST00000413800.1_Frame_Shift_Ins_p.R233fs|C7orf43_ENST00000316937.3_5'Flank|GAL3ST4_ENST00000411994.1_Frame_Shift_Ins_p.P131fs|C7orf43_ENST00000419841.1_5'Flank|GAL3ST4_ENST00000426974.2_Frame_Shift_Ins_p.R171fs|GAL3ST4_ENST00000423751.1_Frame_Shift_Ins_p.P131fs	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	233					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)	p.R233fs*36(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTGGGGTCTCTGGGGGGATGAA	0.589																																					p.R233fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.697_698insC	7						.																																			99596252	SO:0001589	frameshift_variant	79690	exon4			AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"""Sulfotransferases, membrane-bound"""	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.697dupC	7.37:g.99758321_99758321dupG	ENSP00000353142:p.Arg233fs	Somatic		Capture	SOLID	Phase_I	99596251	NM_024637	A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Frame_Shift_Ins	INS	ENST00000360039.4	37	CCDS5688.1																																																																																				0.589	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2	NM_024637	
TNFAIP2	7127	hgsc.bcm.edu	37	14	103601588	103601589	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr14:103601588_103601589insG	ENST00000560869.1	+	12	2495_2496	c.1856_1857insG	c.(1855-1860)aaggggfs	p.KG619fs	TNFAIP2_ENST00000451723.2_Frame_Shift_Ins_p.KG288fs|TNFAIP2_ENST00000538222.1_Frame_Shift_Ins_p.KG102fs|TNFAIP2_ENST00000333007.1_Frame_Shift_Ins_p.KG619fs			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	619					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|exocytosis (GO:0006887)	exocyst (GO:0000145)|extracellular space (GO:0005615)		p.N621fs*6(1)		NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			CTGGCCATCAAGGGGAACCTAT	0.599																																					p.K619fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1856_1857insG	14						.																																			102671342	SO:0001589	frameshift_variant	7127	exon11				CCDS9979.1	14q32	2011-01-31				ENSG00000185215			11895	protein-coding gene	gene with protein product	"""exocyst complex component 3-like 3"""	603300				1374453	Standard	NM_006291		Approved	B94, EXOC3L3	uc001ymm.1	Q03169		ENST00000560869.1:c.1860dupG	14.37:g.103601592_103601592dupG	ENSP00000452634:p.Lys619fs	Somatic		Capture	SOLID	Phase_I	102671341	NM_006291	Q86VI0	Frame_Shift_Ins	INS	ENST00000560869.1	37	CCDS9979.1																																																																																				0.599	TNFAIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415674.1	NM_006291	
SNAPC1	6617	hgsc.bcm.edu	37	14	62242910	62242911	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr14:62242910_62242911insT	ENST00000216294.4	+	5	736_737	c.632_633insT	c.(631-636)gattttfs	p.DF211fs	RP11-618G20.1_ENST00000555937.1_RNA	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	211	SNAPC4-binding.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.D214fs*1(2)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		ATAAAGGATGATTTTTTTGACA	0.356																																					p.D211fs	NSCLC(27;223 907 37180 39193 46568)											.	.	2	Insertion - Frameshift(2)	large_intestine(1)|ovary(1)	c.632_633insT	14						.																																			61312664	SO:0001589	frameshift_variant	6617	exon5			Z47542	CCDS9755.1	14q22	2008-08-11	2002-08-29		ENSG00000023608	ENSG00000023608			11134	protein-coding gene	gene with protein product		600591	"""small nuclear RNA activating complex, polypeptide 1, 43kD"""			9644240	Standard	NM_003082		Approved	SNAP43, PTFgamma	uc001xft.3	Q16533	OTTHUMG00000140343	ENST00000216294.4:c.639dupT	14.37:g.62242917_62242917dupT	ENSP00000216294:p.Asp211fs	Somatic		Capture	SOLID	Phase_I	61312663	NM_003082		Frame_Shift_Ins	INS	ENST00000216294.4	37	CCDS9755.1																																																																																				0.356	SNAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276976.2	NM_003082	
UBR5	51366	hgsc.bcm.edu	37	8	103358496	103358497	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr8:103358496_103358497insC	ENST00000520539.1	-	7	1309_1310	c.703_704insG	c.(703-705)gatfs	p.D235fs	UBR5_ENST00000220959.4_Frame_Shift_Ins_p.D235fs|UBR5_ENST00000521922.1_Frame_Shift_Ins_p.D235fs	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	235					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.D235fs*2(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GGCTGTATCATCCCCATCATCT	0.421																																					p.D235fs	Ovarian(131;96 1741 5634 7352 27489)											.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.704_705insG	8						.																																			103427673	SO:0001589	frameshift_variant	51366	exon7			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.704dupG	8.37:g.103358500_103358500dupC	ENSP00000429084:p.Asp235fs	Somatic		Capture	SOLID	Phase_I	103427672	NM_015902	B2RP24|J3KMW7|O94970|Q9NPL3	Frame_Shift_Ins	INS	ENST00000520539.1	37	CCDS34933.1																																																																																				0.421	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902	
HIF3A	64344	hgsc.bcm.edu	37	19	46812523	46812524	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr19:46812523_46812524insC	ENST00000377670.4	+	6	708_709	c.677_678insC	c.(676-681)atccccfs	p.IP226fs	HIF3A_ENST00000339613.2_Frame_Shift_Ins_p.IP170fs|HIF3A_ENST00000600383.1_Frame_Shift_Ins_p.IP157fs|HIF3A_ENST00000472815.1_Frame_Shift_Ins_p.IP157fs|RNU6-924P_ENST00000362926.1_RNA|HIF3A_ENST00000244303.6_Frame_Shift_Ins_p.IP157fs|HIF3A_ENST00000300862.3_Frame_Shift_Ins_p.IP224fs|HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000420102.2_Frame_Shift_Ins_p.IP175fs	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	226					cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.H226fs*28(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		TGCGAAGCCATCCCCCACCCAG	0.653																																					p.I226fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.677_678insC	19						.																																			51504364	SO:0001589	frameshift_variant	64344	exon6			AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.682dupC	19.37:g.46812528_46812528dupC	ENSP00000366898:p.Ile226fs	Somatic		Capture	SOLID	Phase_I	51504363	NM_152795	B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Frame_Shift_Ins	INS	ENST00000377670.4	37	CCDS12681.2																																																																																				0.653	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3		
GTF2F1	2962	hgsc.bcm.edu	37	19	6381750	6381751	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr19:6381750_6381751insC	ENST00000394456.5	-	7	1257_1258	c.793_794insG	c.(793-795)gacfs	p.D265fs	GTF2F1_ENST00000429701.2_Frame_Shift_Ins_p.D180fs|PSPN_ENST00000597721.1_5'Flank	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	265					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	catalytic activity (GO:0003824)|DNA binding (GO:0003677)|phosphatase activator activity (GO:0019211)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.D265fs*16(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						GCCCTCGAAGTCCCCATCATCG	0.639																																					p.D265fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.794_795insG	19						.																																			6332751	SO:0001589	frameshift_variant	2962	exon7				CCDS12165.1	19p13.3	2010-03-23	2002-08-29		ENSG00000125651	ENSG00000125651		"""General transcription factors"""	4652	protein-coding gene	gene with protein product		189968	"""general transcription factor IIF, polypeptide 1 (74kD subunit)"""			1734284	Standard	NM_002096		Approved	TFIIF, BTF4, RAP74, TF2F1	uc002meq.2	P35269	OTTHUMG00000168087	ENST00000394456.5:c.794dupG	19.37:g.6381754_6381754dupC	ENSP00000377969:p.Asp265fs	Somatic		Capture	SOLID	Phase_I	6332750	NM_002096	B2RCS0|Q9BWN0	Frame_Shift_Ins	INS	ENST00000394456.5	37	CCDS12165.1																																																																																				0.639	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398033.1	NM_002096	
UBE4B	10277	hgsc.bcm.edu	37	1	10211546	10211547	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:10211546_10211547insT	ENST00000253251.8	+	20	3305_3306	c.2466_2467insT	c.(2467-2469)tttfs	p.F823fs	UBE4B_ENST00000377157.3_Frame_Shift_Ins_p.F707fs|UBE4B_ENST00000343090.6_Frame_Shift_Ins_p.F952fs					ubiquitination factor E4B									p.E825fs*1(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GAACCCAGAAGTTTTTTGAAAT	0.446																																					p.K822fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.2466_2467insT	1						.																																			10134134	SO:0001589	frameshift_variant	10277	exon20			AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.2472dupT	1.37:g.10211552_10211552dupT	ENSP00000253251:p.Phe823fs	Somatic		Capture	SOLID	Phase_I	10134133	NM_006048		Frame_Shift_Ins	INS	ENST00000253251.8	37	CCDS110.1																																																																																				0.446	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048	
GJA5	2702	hgsc.bcm.edu	37	1	147231207	147231208	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:147231207_147231208insC	ENST00000271348.2	-	2	300_301	c.139_140insG	c.(139-141)gatfs	p.D47fs	RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Frame_Shift_Ins_p.D47fs	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	47					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)	p.D47fs*2(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			AGCCTGCTCATCCCCCCAGGAA	0.564																																					p.D47fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.140_141insG	1						.																																			145697832	SO:0001589	frameshift_variant	2702	exon2				CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"""Ion channels / Gap junction proteins (connexins)"""	4279	protein-coding gene	gene with protein product	"""connexin 40"""	121013	"""gap junction protein, alpha 5, 40kD (connexin 40)"", ""gap junction protein, alpha 5, 40kDa (connexin 40)"""				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.140dupG	1.37:g.147231213_147231213dupC	ENSP00000271348:p.Asp47fs	Somatic		Capture	SOLID	Phase_I	145697831	NM_005266	Q5T3B6|Q5U0N6	Frame_Shift_Ins	INS	ENST00000271348.2	37	CCDS929.1																																																																																				0.564	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039422.2	NM_181703	
ADAMTS4	9507	hgsc.bcm.edu	37	1	161167945	161167946	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:161167945_161167946insC	ENST00000367996.5	-	1	900_901	c.472_473insG	c.(472-474)gctfs	p.A158fs	NDUFS2_ENST00000367993.3_5'Flank|ADAMTS4_ENST00000367995.3_Frame_Shift_Ins_p.A158fs|ADAMTS4_ENST00000478394.1_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	158					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)	p.A158fs*2(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	GTGGAGTTCAGCCCCCCGATAT	0.624																																					p.A158fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.473_474insG	1						.																																			159434570	SO:0001589	frameshift_variant	9507	exon1			AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.473dupG	1.37:g.161167951_161167951dupC	ENSP00000356975:p.Ala158fs	Somatic		Capture	SOLID	Phase_I	159434569	NM_005099	Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Frame_Shift_Ins	INS	ENST00000367996.5	37	CCDS1223.1																																																																																				0.624	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099	
ANGEL2	90806	hgsc.bcm.edu	37	1	213186743	213186744	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:213186743_213186744insG	ENST00000366962.3	-	2	230_231	c.76_77insC	c.(76-78)catfs	p.H26fs	ANGEL2_ENST00000360506.2_Intron|ANGEL2_ENST00000535388.1_Intron|ANGEL2_ENST00000544555.1_Intron|ANGEL2_ENST00000540642.1_Intron	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	26								p.H26fs*28(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		CCTCGAGTGATGGGGAAACATG	0.446																																					p.H26fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.77_78insC	1						.																																			211253367	SO:0001589	frameshift_variant	90806	exon2			AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.77dupC	1.37:g.213186747_213186747dupG	ENSP00000355929:p.His26fs	Somatic		Capture	SOLID	Phase_I	211253366	NM_144567	B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Frame_Shift_Ins	INS	ENST00000366962.3	37	CCDS1512.1																																																																																				0.446	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	NM_144567	
CENPF	1063	hgsc.bcm.edu	37	1	214830652	214830653	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:214830652_214830653insA	ENST00000366955.3	+	18	9030_9031	c.8862_8863insA	c.(8863-8865)aaafs	p.K2955fs		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	3051	Sufficient for centromere localization.|Sufficient for nuclear localization.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.S2957fs*19(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGAGCTTTTCTAAAAAAAGCAA	0.455																																					p.S2954fs	Colon(80;575 1284 11000 14801 43496)											.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.8862_8863insA	1						.																																			212897276	SO:0001589	frameshift_variant	1063	exon18			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.8869dupA	1.37:g.214830659_214830659dupA	ENSP00000355922:p.Lys2955fs	Somatic		Capture	SOLID	Phase_I	212897275	NM_016343	Q13171|Q13246|Q5VVM7	Frame_Shift_Ins	INS	ENST00000366955.3	37	CCDS31023.1																																																																																				0.455	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343	
IFNLR1	163702	hgsc.bcm.edu	37	1	24484089	24484090	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:24484089_24484090insC	ENST00000327535.1	-	7	1105_1106	c.1093_1094insG	c.(1093-1095)gtgfs	p.V365fs	IFNLR1_ENST00000327575.2_3'UTR|IFNLR1_ENST00000374421.3_Frame_Shift_Ins_p.V336fs	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	Q8IU57	INLR1_HUMAN	interferon, lambda receptor 1	365					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mucosal immune response (GO:0002385)|negative regulation of cell proliferation (GO:0008285)|regulation of defense response to virus by host (GO:0050691)|response to type III interferon (GO:0034342)	integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)		p.V365fs*45(1)									CCCTGAGTCCACCCCACCAGCC	0.619																																					p.V336fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1007_1008insG	1						.																																			24356677	SO:0001589	frameshift_variant	163702	exon7			AY129153	CCDS248.1, CCDS249.1, CCDS250.1	1p36.11	2012-11-27	2012-11-26	2012-11-26	ENSG00000185436	ENSG00000185436		"""Interferons"""	18584	protein-coding gene	gene with protein product	"""interferon lambda receptor 1"""	607404	"""interleukin 28 receptor, alpha"", ""interleukin 28 receptor, alpha (interferon, lambda receptor)"""	IL28RA			Standard	NM_173064		Approved	CRF2/12, IFNLR, IL-28R1	uc001bis.3	Q8IU57	OTTHUMG00000003036	ENST00000327535.1:c.1094dupG	1.37:g.24484093_24484093dupC	ENSP00000327824:p.Val365fs	Somatic		Capture	SOLID	Phase_I	24356676	NM_173064	Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8	Frame_Shift_Ins	INS	ENST00000327535.1	37	CCDS248.1																																																																																				0.619	IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008402.1	NM_170743	
ARID1A	8289	hgsc.bcm.edu	37	1	27088668	27088669	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:27088668_27088669insC	ENST00000324856.7	+	7	2648_2649	c.2277_2278insC	c.(2278-2280)cccfs	p.P760fs	ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.P760fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.P377fs|RN7SL501P_ENST00000578818.1_RNA	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	760					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.Q761fs*56(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ACCCCCAGATGCCCCAGTACAG	0.515			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																p.M759fs			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.2277_2278insC	1						.																																			26961256	SO:0001589	frameshift_variant	8289	exon7			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.2281dupC	1.37:g.27088672_27088672dupC	ENSP00000320485:p.Pro760fs	Somatic		Capture	SOLID	Phase_I	26961255	NM_139135	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Ins	INS	ENST00000324856.7	37	CCDS285.1																																																																																				0.515	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135	
HIST1H3C	8352	hgsc.bcm.edu	37	6	26046034	26046035	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:26046034_26046035insG	ENST00000540144.1	+	1	396_397	c.396_397insG	c.(397-399)gggfs	p.G133fs	HIST1H2BB_ENST00000357905.2_5'Flank	NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	133					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.E134fs*>4(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						GTCGCATCCGTGGGGAAAGGGC	0.49																																					p.R132fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.396_397insG	6						.																																			26154014	SO:0001589	frameshift_variant	8352	exon1			X57128	CCDS4576.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196532	ENSG00000278272		"""Histones / Replication-dependent"""	4768	protein-coding gene	gene with protein product		602812	"""H3 histone family, member C"", ""histone 1, H3c"""	H3FC		8227173, 9119399, 12408966	Standard	NM_003531		Approved	H3/c, H3.1	uc003nfv.3	P68431	OTTHUMG00000014416	ENST00000540144.1:c.400dupG	6.37:g.26046038_26046038dupG	ENSP00000439493:p.Gly133fs	Somatic		Capture	SOLID	Phase_I	26154013	NM_003531	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Frame_Shift_Ins	INS	ENST00000540144.1	37	CCDS4576.1																																																																																				0.490	HIST1H3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040078.1	NM_003531	
SLC44A4	80736	hgsc.bcm.edu	37	6	31842261	31842262	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:31842261_31842262insG	ENST00000229729.6	-	7	524_525	c.504_505insC	c.(502-507)cccagtfs	p.S169fs	SLC44A4_ENST00000544672.1_Frame_Shift_Ins_p.S93fs|SLC44A4_ENST00000375562.4_Frame_Shift_Ins_p.S127fs|SLC44A4_ENST00000465707.1_5'Flank	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	169					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S169fs*30(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	AGGAGGAAACTGGGGCAGAGTT	0.525																																					p.S127fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.379_380insC	6						.																																			31950241	SO:0001589	frameshift_variant	80736	exon6			AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"""Solute carriers"""	13941	protein-coding gene	gene with protein product		606107	"""chromosome 6 open reading frame 29"""	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.505dupC	6.37:g.31842265_31842265dupG	ENSP00000229729:p.Ser169fs	Somatic		Capture	SOLID	Phase_I	31950240	NM_001178044	A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Frame_Shift_Ins	INS	ENST00000229729.6	37	CCDS4724.2																																																																																				0.525	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3		
AP2B1	163	hgsc.bcm.edu	37	17	34037294	34037295	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr17:34037294_34037295insA	ENST00000262325.7	+	19	3092_3093	c.2539_2540insA	c.(2539-2541)gaafs	p.E847fs	AP2B1_ENST00000592545.1_Frame_Shift_Ins_p.E823fs|AP2B1_ENST00000538556.1_Frame_Shift_Ins_p.E790fs|AP2B1_ENST00000589344.1_Frame_Shift_Ins_p.E861fs|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000537622.2_Frame_Shift_Ins_p.E861fs|AP2B1_ENST00000312678.8_Frame_Shift_Ins_p.E861fs	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	847	Interaction with ARRB1.				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)	p.N862fs*2(1)		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)		TATTCCCAATGAAAATGAACTT	0.361																																					p.E847fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.2539_2540insA	17						.																																			31061408	SO:0001589	frameshift_variant	163	exon19			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.2543dupA	17.37:g.34037298_34037298dupA	ENSP00000262325:p.Glu847fs	Somatic		Capture	SOLID	Phase_I	31061407	NM_001282	A6NJP3|P21851|Q7Z451|Q96J19	Frame_Shift_Ins	INS	ENST00000262325.7	37	CCDS32622.1																																																																																				0.361	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1		
PPP1R1B	84152	hgsc.bcm.edu	37	17	37786244	37786245	+	Frame_Shift_Ins	INS	-	-	CCTT			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr17:37786244_37786245insCCTT	ENST00000254079.4	+	4	654_655	c.185_186insCCTT	c.(184-189)caccatfs	p.H63fs	PPP1R1B_ENST00000394267.2_Frame_Shift_Ins_p.H27fs|PPP1R1B_ENST00000579000.1_Intron|PPP1R1B_ENST00000394265.1_Frame_Shift_Ins_p.H27fs|PPP1R1B_ENST00000580825.1_Frame_Shift_Ins_p.H63fs	NM_032192.3	NP_115568.2	Q9UD71	PPR1B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1B	63					intracellular signal transduction (GO:0035556)|negative regulation of catalytic activity (GO:0043086)|negative regulation of female receptivity (GO:0007621)|negative regulation of protein kinase activity (GO:0006469)|regulation of catalytic activity (GO:0050790)|response to amphetamine (GO:0001975)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	protein kinase inhibitor activity (GO:0004860)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 1 regulator activity (GO:0008599)	p.H63fs*26(1)		kidney(1)|large_intestine(1)|liver(1)|lung(2)	5	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGAGAGGGGCACCATCTCAAGT	0.604																																					p.H62fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.185_186insCCTT	17						.																																			35039771	SO:0001589	frameshift_variant	84152	exon4			AI124650	CCDS11339.1, CCDS11340.1	17q12	2012-04-17	2008-07-31		ENSG00000131771	ENSG00000131771	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9287	protein-coding gene	gene with protein product	"""dopamine and cAMP regulated phosphoprotein"""	604399				8120638	Standard	NM_032192		Approved	DARPP-32, FLJ20940	uc002hrz.3	Q9UD71	OTTHUMG00000133210	Exception_encountered	17.37:g.37786244_37786245insCCTT	ENSP00000254079:p.His63fs	Somatic		Capture	SOLID	Phase_I	35039770	NM_032192	Q547V9|Q547W0|Q9H7G1	Frame_Shift_Ins	INS	ENST00000254079.4	37	CCDS11339.1																																																																																				0.604	PPP1R1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256925.2	NM_032192	
ZPBP2	124626	hgsc.bcm.edu	37	17	38027839	38027840	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr17:38027839_38027840insA	ENST00000348931.4	+	4	558_559	c.367_368insA	c.(367-369)gaafs	p.E123fs	ZPBP2_ENST00000377940.3_Frame_Shift_Ins_p.E101fs|ZPBP2_ENST00000584588.1_Frame_Shift_Ins_p.E123fs	NM_199321.2	NP_955353.1	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	123					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)		p.T125fs*7(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			AACTCAAGAAGAAAAAACAGTC	0.327																																					p.E101fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.301_302insA	17						.																																			35281366	SO:0001589	frameshift_variant	124626	exon3			BC043152	CCDS11352.1, CCDS11353.2	17q21.1	2013-01-11			ENSG00000186075	ENSG00000186075		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	20678	protein-coding gene	gene with protein product		608499					Standard	XM_005257031		Approved	ZPBPL, MGC41930	uc002hte.3	Q6X784	OTTHUMG00000133022	ENST00000348931.4:c.373dupA	17.37:g.38027845_38027845dupA	ENSP00000335384:p.Glu123fs	Somatic		Capture	SOLID	Phase_I	35281365	NM_198844	A8K8L8|Q6X783|Q86XL5	Frame_Shift_Ins	INS	ENST00000348931.4	37	CCDS11352.1																																																																																				0.327	ZPBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256609.2	NM_198844	
DHX8	1659	hgsc.bcm.edu	37	17	41601081	41601082	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr17:41601081_41601082insC	ENST00000262415.3	+	23	3601_3602	c.3529_3530insC	c.(3529-3531)gccfs	p.A1177fs	DHX8_ENST00000540306.1_Intron	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1177					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.A1179fs*10(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TGTGGAGTTTGCCCCAGCCTTC	0.535																																					p.A1177fs	NSCLC(56;1548 1661 49258 49987)											.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.3529_3530insC	17						.																																			38956608	SO:0001589	frameshift_variant	1659	exon23			D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.3533dupC	17.37:g.41601085_41601085dupC	ENSP00000262415:p.Ala1177fs	Somatic		Capture	SOLID	Phase_I	38956607	NM_004941		Frame_Shift_Ins	INS	ENST00000262415.3	37	CCDS11464.1																																																																																				0.535	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1		
ABCA10	10349	hgsc.bcm.edu	37	17	67210909	67210910	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr17:67210909_67210910insA	ENST00000269081.4	-	10	1850_1851	c.941_942insT	c.(940-942)ttcfs	p.F314fs	ABCA10_ENST00000432313.2_Frame_Shift_Ins_p.F314fs|ABCA10_ENST00000416101.2_Frame_Shift_Ins_p.F314fs	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	314					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.I315fs*5(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					ATGCCAAAATGAAAAAAGTGGC	0.302																																					p.F314fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.942_943insT	17						.																																			64722505	SO:0001589	frameshift_variant	10349	exon10			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.942dupT	17.37:g.67210915_67210915dupA	ENSP00000269081:p.Phe314fs	Somatic		Capture	SOLID	Phase_I	64722504	NM_080282	C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Frame_Shift_Ins	INS	ENST00000269081.4	37	CCDS11684.1																																																																																				0.302	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282	
BTBD11	121551	hgsc.bcm.edu	37	12	108012040	108012041	+	Frame_Shift_Ins	INS	-	-	C	rs150221761		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr12:108012040_108012041insC	ENST00000280758.5	+	10	2865_2866	c.2337_2338insC	c.(2338-2340)cccfs	p.P780fs	BTBD11_ENST00000490090.2_Frame_Shift_Ins_p.P780fs|BTBD11_ENST00000357167.4_Frame_Shift_Ins_p.P317fs|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000420571.2_Intron	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	780						integral component of membrane (GO:0016021)		p.C783fs*22(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AGACAGCCCCGCCCCCCTTGTG	0.609																																					p.P779fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.2337_2338insC	12						.																																			106536171	SO:0001589	frameshift_variant	121551	exon10			AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2343dupC	12.37:g.108012046_108012046dupC	ENSP00000280758:p.Pro780fs	Somatic		Capture	SOLID	Phase_I	106536170	NM_001018072	A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Frame_Shift_Ins	INS	ENST00000280758.5	37	CCDS31893.1																																																																																				0.609	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322	
LRP1	4035	hgsc.bcm.edu	37	12	57559879	57559880	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr12:57559879_57559880insC	ENST00000243077.3	+	17	3150_3151	c.2684_2685insC	c.(2683-2688)tgccccfs	p.CP895fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	895	LDL-receptor class A 4. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.S897fs*23(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAGCACACCTGCCCCTCGGACC	0.609																																					p.C895fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.2684_2685insC	12						.																																			55846147	SO:0001589	frameshift_variant	4035	exon17			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.2688dupC	12.37:g.57559883_57559883dupC	ENSP00000243077:p.Cys895fs	Somatic		Capture	SOLID	Phase_I	55846146	NM_002332	Q2PP12|Q86SW0|Q8IVG8	Frame_Shift_Ins	INS	ENST00000243077.3	37	CCDS8932.1																																																																																				0.609	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332	
DMD	1756	hgsc.bcm.edu	37	X	31947840	31947841	+	De_novo_Start_InFrame	INS	-	-	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chrX:31947840_31947841insT	ENST00000474231.1	-	0	444_445				DMD_ENST00000378707.3_De_novo_Start_InFrame|DMD_ENST00000343523.2_De_novo_Start_InFrame|DMD_ENST00000541735.1_De_novo_Start_InFrame|DMD_ENST00000359836.1_De_novo_Start_InFrame|DMD_ENST00000357033.4_Frame_Shift_Ins_p.L2262fs|DMD_ENST00000378677.2_Frame_Shift_Ins_p.L2258fs	NM_004021.2	NP_004012	P11532	DMD_HUMAN	dystrophin						cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.L921fs*11(1)|p.L2258fs*11(1)|p.L2257fs*11(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCCCTGGCGCAGGGGCAACTCT	0.406																																					p.L2139fs												.	.	3	Insertion - Frameshift(3)	large_intestine(3)	c.6416_6417insA	X						.																																			31857762			1756	exon47			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336		X.37:g.31947840_31947841insT		Somatic		Capture	SOLID	Phase_I	31857761	NM_004010	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Frame_Shift_Ins	INS	ENST00000474231.1	37																																																																																					0.406	DMD-016	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000356267.1	NM_004006	
MTTP	4547	hgsc.bcm.edu	37	4	100512852	100512853	+	In_Frame_Ins	INS	-	-	ATAGAA			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr4:100512852_100512853insATAGAA	ENST00000265517.5	+	6	866_867	c.663_664insATAGAA	c.(664-666)ata>ATAGAAata	p.222_222I>IEI	MTTP_ENST00000457717.1_In_Frame_Ins_p.222_222I>IEI|MTTP_ENST00000511045.1_In_Frame_Ins_p.249_249I>IEI			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	222	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)	p.K221_I222insIE(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	CCACCTATAAGATAGAAGACAG	0.332																																					p.K221delinsKIE												.	.	1	Insertion - In frame(1)	large_intestine(1)	c.663_664insATAGAA	4						.																																			100731876	SO:0001652	inframe_insertion	4547	exon7				CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.664_669dupATAGAA	4.37:g.100512853_100512858dupATAGAA	Exception_encountered	Somatic		Capture	SOLID	Phase_I	100731875	NM_000253	A8K428|Q08AM4|Q6P5T3	In_Frame_Ins	INS	ENST00000265517.5	37	CCDS3651.1																																																																																				0.332	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3		
ANK2	287	hgsc.bcm.edu	37	4	114279033	114279034	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr4:114279033_114279034insC	ENST00000357077.4	+	38	9312_9313	c.9259_9260insC	c.(9259-9261)accfs	p.T3087fs	ANK2_ENST00000264366.6_Frame_Shift_Ins_p.T3054fs|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3087					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.T3089fs*2(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCCTGCTAGGACCCCAACTGAA	0.47																																					p.T3087fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.9259_9260insC	4						.																																			114498483	SO:0001589	frameshift_variant	287	exon38			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.9263dupC	4.37:g.114279037_114279037dupC	ENSP00000349588:p.Thr3087fs	Somatic		Capture	SOLID	Phase_I	114498482	NM_001148	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Frame_Shift_Ins	INS	ENST00000357077.4	37	CCDS3702.1																																																																																				0.470	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
PCDH10	57575	hgsc.bcm.edu	37	4	134071648	134071649	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr4:134071648_134071649insC	ENST00000264360.5	+	1	1179_1180	c.353_354insC	c.(352-357)aaccccfs	p.NP118fs	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	118	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S121fs*13(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ATTAATGACAACCCCCCCTCTT	0.604																																					p.N118fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.353_354insC	4						.																																			134291099	SO:0001589	frameshift_variant	57575	exon1			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.360dupC	4.37:g.134071655_134071655dupC	ENSP00000264360:p.Asn118fs	Somatic		Capture	SOLID	Phase_I	134291098	NM_032961	Q4W5F6|Q96SF0	Frame_Shift_Ins	INS	ENST00000264360.5	37	CCDS34063.1																																																																																				0.604	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961	
GATB	5188	hgsc.bcm.edu	37	4	152609850	152609851	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr4:152609850_152609851insT	ENST00000515812.1	-	9	1155_1156	c.1139_1140insA	c.(1138-1140)aagfs	p.K380fs	PET112_ENST00000263985.6_Frame_Shift_Ins_p.K421fs|PET112_ENST00000507592.1_5'Flank														p.V422fs*3(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						AACTAGTCACCTTTTTTGGCTC	0.401																																					p.K421fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1263_1264insA	4						.																																			152829301	SO:0001589	frameshift_variant	5188	exon10																														ENST00000515812.1:c.1140dupA	4.37:g.152609856_152609856dupT	ENSP00000426859:p.Lys380fs	Somatic		Capture	SOLID	Phase_I	152829300	NM_004564		Frame_Shift_Ins	INS	ENST00000515812.1	37																																																																																					0.401	PET112-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365672.1		
CPZ	8532	hgsc.bcm.edu	37	4	8613844	8613845	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr4:8613844_8613845insG	ENST00000360986.4	+	8	1492_1493	c.1318_1319insG	c.(1318-1320)aggfs	p.R440fs	CPZ_ENST00000429646.2_Frame_Shift_Ins_p.R48fs|CPZ_ENST00000382480.2_Frame_Shift_Ins_p.R303fs|CPZ_ENST00000315782.6_Frame_Shift_Ins_p.R429fs	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	440					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.S442fs*27(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TTTCCTGAAGAGGGGGAGCATC	0.624																																					p.R429fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1285_1286insG	4						.																																			8664745	SO:0001589	frameshift_variant	8532	exon7			U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.1323dupG	4.37:g.8613849_8613849dupG	ENSP00000354255:p.Arg440fs	Somatic		Capture	SOLID	Phase_I	8664744	NM_003652	O00520|Q96MX2	Frame_Shift_Ins	INS	ENST00000360986.4	37	CCDS33953.1																																																																																				0.624	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652	
KCNH7	90134	hgsc.bcm.edu	37	2	163374273	163374274	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:163374273_163374274insG	ENST00000332142.5	-	4	957_958	c.858_859insC	c.(856-861)cccaagfs	p.K287fs	KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Frame_Shift_Ins_p.K287fs	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	287					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.K287fs*5(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	AATATGTTCTTGGGGTGGACGC	0.386																																					p.K287fs	GBM(196;1492 2208 17507 24132 45496)											.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.859_860insC	2						.																																			163082520	SO:0001589	frameshift_variant	90134	exon4			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.859dupC	2.37:g.163374277_163374277dupG	ENSP00000331727:p.Lys287fs	Somatic		Capture	SOLID	Phase_I	163082519	NM_173162	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Frame_Shift_Ins	INS	ENST00000332142.5	37	CCDS2219.1																																																																																				0.386	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272	
CYBRD1	79901	hgsc.bcm.edu	37	2	172410000	172410001	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:172410000_172410001insT	ENST00000321348.4	+	3	745_746	c.547_548insT	c.(547-549)attfs	p.I183fs	CYBRD1_ENST00000375252.3_Frame_Shift_Ins_p.DF113fs|CYBRD1_ENST00000409484.1_Frame_Shift_Ins_p.I125fs	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1	183	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				cellular iron ion homeostasis (GO:0006879)|response to iron ion (GO:0010039)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|oxidoreductase activity, oxidizing metal ions (GO:0016722)	p.S185fs*44(1)		endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						AGAGAAACTGATTTTTTCCCTG	0.332																																					p.I183fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.547_548insT	2						.																																			172118247	SO:0001589	frameshift_variant	79901	exon3			AK027115	CCDS2244.1, CCDS46449.1, CCDS58736.1	2q31	2013-03-14			ENSG00000071967	ENSG00000071967		"""Cytochrome b genes"""	20797	protein-coding gene	gene with protein product	"""ferric-chelate reductase 3"", ""cytochrome b561 family, member A2"""	605745				11230685	Standard	NM_001127383		Approved	DCYTB, FLJ23462, FRRS3, CYB561A2	uc002ugy.4	Q53TN4	OTTHUMG00000132260	ENST00000321348.4:c.553dupT	2.37:g.172410006_172410006dupT	ENSP00000319141:p.Ile183fs	Somatic		Capture	SOLID	Phase_I	172118246	NM_024843	B2RE79|B4DWD7|Q6KC16|Q6KC17|Q6P147|Q6ZR51|Q9H0Q8|Q9H5G5	Frame_Shift_Ins	INS	ENST00000321348.4	37	CCDS2244.1																																																																																				0.332	CYBRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255344.2	NM_024843	
DGKD	8527	hgsc.bcm.edu	37	2	234360636	234360637	+	Frame_Shift_Ins	INS	-	-	TACC			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:234360636_234360637insTACC	ENST00000264057.2	+	18	2206_2207	c.2194_2195insTACC	c.(2194-2196)ttafs	p.-733fs	DGKD_ENST00000409813.3_Frame_Shift_Ins_p.-689fs	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa						blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.G734fs*12(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GTCTGGTTCCTTACCCGGTGGC	0.5																																					p.L732fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.2194_2195insTACC	2						.																																			234025376	SO:0001589	frameshift_variant	8527	exon18			D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.2195_2198dupTACC	2.37:g.234360637_234360640dupTACC	ENSP00000264057:p.Pro733fs	Somatic		Capture	SOLID	Phase_I	234025375	NM_152879	Q14158|Q6PK55|Q8NG53	Frame_Shift_Ins	INS	ENST00000264057.2	37	CCDS2504.1																																																																																				0.500	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648	
MTERF4	130916	hgsc.bcm.edu	37	2	242035715	242035716	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:242035715_242035716insC	ENST00000391980.2	-	4	901_902	c.843_844insG	c.(841-846)gggcagfs	p.Q282fs	MTERFD2_ENST00000464344.2_Intron|MTERFD2_ENST00000495694.1_Intron|MTERFD2_ENST00000406593.1_Frame_Shift_Ins_p.Q94fs	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		282					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	rRNA binding (GO:0019843)	p.Q282fs*6(1)		endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		ATCTGTGTCTGCCCCTTCTTAT	0.465																																					p.Q282fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.844_845insG	2						.																																			241684389	SO:0001589	frameshift_variant	130916	exon4																														ENST00000391980.2:c.844dupG	2.37:g.242035719_242035719dupC	ENSP00000375840:p.Gln282fs	Somatic		Capture	SOLID	Phase_I	241684388	NM_182501	A8K6K0|Q9P0E0	Frame_Shift_Ins	INS	ENST00000391980.2	37	CCDS2544.1																																																																																				0.465	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323798.4		
MAPRE3	22924	hgsc.bcm.edu	37	2	27248516	27248517	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:27248516_27248517insC	ENST00000233121.2	+	5	733_734	c.535_536insC	c.(535-537)gccfs	p.A179fs	MAPRE3_ENST00000405074.3_Frame_Shift_Ins_p.A164fs|MAPRE3_ENST00000402218.1_Frame_Shift_Ins_p.A164fs			Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family, member 3	179					mitotic nuclear division (GO:0007067)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule plus-end binding (GO:1903033)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)	p.C182fs*16(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGCAATGTGGCCCCCCCCTGC	0.564																																					p.A179fs												.	.	2	Insertion - Frameshift(2)	ovary(1)|large_intestine(1)	c.535_536insC	2						.			39,4227		0,39,2094						4.4	1.0			60	29,8225		0,29,4098	no	frameshift	MAPRE3	NM_012326.2		0,68,6192	A1A1,A1R,RR		0.3513,0.9142,0.5431				68,12452				27102021	SO:0001589	frameshift_variant	22924	exon5			Y11174	CCDS1731.1	2p23.3-p23.1	2008-06-04			ENSG00000084764	ENSG00000084764			6892	protein-coding gene	gene with protein product		605788				9233623	Standard	NM_012326		Approved	RP3, EB3	uc002rhw.3	Q9UPY8	OTTHUMG00000097067	ENST00000233121.2:c.543dupC	2.37:g.27248524_27248524dupC	ENSP00000233121:p.Ala179fs	Somatic		Capture	SOLID	Phase_I	27102020	NM_012326	B7WPK5|O00265|Q6FHB0|Q6FI15|Q9BZP7|Q9BZP8	Frame_Shift_Ins	INS	ENST00000233121.2	37	CCDS1731.1																																																																																				0.564	MAPRE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214183.1	NM_012326	
RASA3	22821	hgsc.bcm.edu	37	13	114793378	114793379	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr13:114793378_114793379insG	ENST00000334062.7	-	6	595_596	c.474_475insC	c.(472-477)cccatcfs	p.I159fs	RASA3_ENST00000389544.4_Frame_Shift_Ins_p.I127fs|RASA3_ENST00000542651.1_Frame_Shift_Ins_p.H127fs	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	159	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)	p.I159fs*7(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CCATTCACGATGGGGAGGCCCT	0.639																																					p.I159fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.475_476insC	13						.																																			113811481	SO:0001589	frameshift_variant	22821	exon6				CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"""Pleckstrin homology (PH) domain containing"""	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.475dupC	13.37:g.114793382_114793382dupG	ENSP00000335029:p.Ile159fs	Somatic		Capture	SOLID	Phase_I	113811480	NM_007368	A6NL15|F8W6X8|Q8IUY2	Frame_Shift_Ins	INS	ENST00000334062.7	37	CCDS32016.1																																																																																				0.639	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	NM_007368	
COL17A1	1308	hgsc.bcm.edu	37	10	105812843	105812844	+	Frame_Shift_Ins	INS	-	-	G	rs151209053		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr10:105812843_105812844insG	ENST00000353479.5	-	23	2174_2175	c.1884_1885insC	c.(1882-1887)cccatgfs	p.M629fs	COL17A1_ENST00000480127.1_5'Flank|COL17A1_ENST00000369733.3_Frame_Shift_Ins_p.M629fs	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	629	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.M629fs*6(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CGAGGTCCCATGGGGCCTTCTC	0.589																																					p.M629fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1885_1886insC	10						.																																			105802834	SO:0001589	frameshift_variant	1308	exon23			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.1885dupC	10.37:g.105812847_105812847dupG	ENSP00000340937:p.Met629fs	Somatic		Capture	SOLID	Phase_I	105802833	NM_000494	Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Frame_Shift_Ins	INS	ENST00000353479.5	37	CCDS7554.1																																																																																				0.589	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494	
SLC35G1	159371	hgsc.bcm.edu	37	10	95658416	95658417	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr10:95658416_95658417insA	ENST00000427197.1	+	2	328_329	c.267_268insA	c.(268-270)aaafs	p.K90fs	SLC35G1_ENST00000371408.3_Frame_Shift_Ins_p.K89fs	NM_001134658.1|NM_153226.2	NP_001128130.1|NP_694958.1	Q2M3R5	S35G1_HUMAN	solute carrier family 35, member G1	90	EamA 1.				calcium ion export from cell (GO:1990034)|cytosolic calcium ion homeostasis (GO:0051480)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V91fs*10(1)									CTTTATTTGTTAAAAAAGTGCA	0.386																																					p.V88fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.264_265insA	10						.																																			95648407	SO:0001589	frameshift_variant	159371	exon2			AK091309	CCDS7432.1, CCDS44459.1	10q23.33	2013-05-22	2011-08-03	2011-08-03	ENSG00000176273	ENSG00000176273		"""Solute carriers"""	26607	protein-coding gene	gene with protein product			"""transmembrane protein 20"""	TMEM20		21569384	Standard	NM_153226		Approved	FLJ33990, C10orf60	uc001kjg.2	Q2M3R5	OTTHUMG00000018779	ENST00000427197.1:c.273dupA	10.37:g.95658422_95658422dupA	ENSP00000400932:p.Lys90fs	Somatic		Capture	SOLID	Phase_I	95648406	NM_153226	Q86YG5|Q8NBA5	Frame_Shift_Ins	INS	ENST00000427197.1	37	CCDS44459.1																																																																																				0.386	SLC35G1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_153226	
GLRA1	2741	hgsc.bcm.edu	37	5	151235898	151235899	+	Frame_Shift_Ins	INS	-	-	G	rs114046477|rs121918414	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr5:151235898_151235899insG	ENST00000455880.2	-	5	808_809	c.522_523insC	c.(520-525)cccatgfs	p.M175fs	GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000274576.4_Frame_Shift_Ins_p.M175fs|GLRA1_ENST00000545569.1_Frame_Shift_Ins_p.M92fs			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	175					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)	p.M175fs*19(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGGACATCCATGGGGAAATTCT	0.495																																					p.M175fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.523_524insC	5	GRCh37	CM012966	GLRA1	M	rs121918414	.																																			151216092	SO:0001589	frameshift_variant	2741	exon5				CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"""Ligand-gated ion channels / Glycine receptors"""	4326	protein-coding gene	gene with protein product	"""startle disease/hyperekplexia"", ""stiff person syndrome"""	138491	"""glycine receptor, alpha 1 (startle disease/hyperekplexia)"""	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.523dupC	5.37:g.151235902_151235902dupG	ENSP00000411593:p.Met175fs	Somatic		Capture	SOLID	Phase_I	151216091	NM_000171	B2R6T3|Q14C77|Q6DJV9	Frame_Shift_Ins	INS	ENST00000455880.2	37	CCDS54942.1																																																																																				0.495	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1		
GCNT4	51301	hgsc.bcm.edu	37	5	74324982	74324983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr5:74324982_74324983insG	ENST00000322348.4	-	1	1741_1742	c.880_881insC	c.(880-882)catfs	p.H294fs		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	294					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.H294fs*2(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CTGAATGTTATGGGGGGGTGCT	0.366																																					p.H294fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.881_882insC	5						.																																			74360739	SO:0001589	frameshift_variant	51301	exon1			AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	17973	protein-coding gene	gene with protein product	"""core 2 beta-1,6-N-acetylglucosaminyltransferase 3"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"""		"""glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.881dupC	5.37:g.74324989_74324989dupG	ENSP00000317027:p.His294fs	Somatic		Capture	SOLID	Phase_I	74360738	NM_016591		Frame_Shift_Ins	INS	ENST00000322348.4	37	CCDS4026.1																																																																																				0.366	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254040.1	NM_016591	
SRRT	51593	hgsc.bcm.edu	37	7	100482129	100482129	+	Missense_Mutation	SNP	C	C	T	rs375882161		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr7:100482129C>T	ENST00000347433.4	+	7	1056	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C	SRRT_ENST00000457580.2_Missense_Mutation_p.R300C|SRRT_ENST00000432932.1_Missense_Mutation_p.R300C|SRRT_ENST00000388793.4_Missense_Mutation_p.R300C			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	300	Glu-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.R300C(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GGACGGGGAGCGCAAAACCAA	0.642																																					p.R300C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C898T	7						.	C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4404		0,0,2202	50.0	52.0	51.0		898,898,898,898	3.9	1.0	7		51	2,8596	2.2+/-6.3	0,2,4297	no	missense,missense,missense,missense	SRRT	NM_001128852.1,NM_001128853.1,NM_001128854.1,NM_015908.5	180,180,180,180	0,2,6499	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	300/876,300/873,300/872,300/877	100482129	2,13000	2202	4299	6501	100320065	SO:0001583	missense	51593	exon7				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.898C>T	7.37:g.100482129C>T	ENSP00000314491:p.Arg300Cys	Somatic		Capture	SOLID	Phase_I	100320065	NM_001128852	A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	ENST00000347433.4	37	CCDS34709.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.096891	0.37048	0.0	2.33E-4	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000432932;ENST00000347433	T;T	0.17691	2.26;2.26	3.91	3.91	0.45181	.	0.231821	0.36555	N	0.002525	T	0.18215	0.0437	N	0.14661	0.345	0.50313	D	0.999861	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	P;P;P;P	0.56343	0.796;0.796;0.796;0.63	T	0.02691	-1.1123	10	0.56958	D	0.05	.	11.5862	0.50920	0.0:1.0:0.0:0.0	.	300;300;300;300	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	C	300	ENSP00000416553:R300C;ENSP00000314491:R300C	ENSP00000314491:R300C	R	+	1	0	SRRT	100320065	0.484000	0.25964	0.999000	0.59377	0.005000	0.04900	1.025000	0.30090	2.203000	0.70933	0.491000	0.48974	CGC		0.642	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908	
PIK3CG	5294	hgsc.bcm.edu	37	7	106509556	106509556	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr7:106509556C>T	ENST00000359195.3	+	2	1860	c.1550C>T	c.(1549-1551)tCc>tTc	p.S517F	PIK3CG_ENST00000440650.2_Missense_Mutation_p.S517F|PIK3CG_ENST00000496166.1_Missense_Mutation_p.S517F	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	517	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S517F(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						ATGTCCATCTCCATTCTTCTG	0.532																																					p.S517F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1550T	7						.						157.0	141.0	146.0					7																	106509556		2203	4300	6503	106296792	SO:0001583	missense	5294	exon2				CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1550C>T	7.37:g.106509556C>T	ENSP00000352121:p.Ser517Phe	Somatic		Capture	SOLID	Phase_I	106296792	NM_002649	A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.304270	0.40795	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.70869	-0.52;-0.52;-0.52	6.02	5.13	0.70059	C2 calcium/lipid-binding domain, CaLB (1);	2.313240	0.01150	N	0.006394	T	0.75803	0.3899	L	0.56769	1.78	0.58432	D	0.999995	B	0.17038	0.02	B	0.25759	0.063	T	0.41556	-0.9502	10	0.36615	T	0.2	-20.3539	17.3237	0.87242	0.0:0.8748:0.1252:0.0	.	517	P48736	PK3CG_HUMAN	F	517	ENSP00000392258:S517F;ENSP00000419260:S517F;ENSP00000352121:S517F	ENSP00000352121:S517F	S	+	2	0	PIK3CG	106296792	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.953000	0.56699	1.532000	0.49169	0.655000	0.94253	TCC		0.532	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1		
CPED1	79974	hgsc.bcm.edu	37	7	120780995	120780995	+	Missense_Mutation	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr7:120780995T>C	ENST00000310396.5	+	15	2281	c.1814T>C	c.(1813-1815)gTa>gCa	p.V605A	CPED1_ENST00000423795.1_Missense_Mutation_p.V385A|CPED1_ENST00000450913.2_Missense_Mutation_p.V605A	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	605						endoplasmic reticulum (GO:0005783)		p.V605A(1)									TTTGATGTGGTAACAGTGACA	0.443																																					p.V605A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1814C	7						.						89.0	83.0	85.0					7																	120780995		2203	4300	6503	120568231	SO:0001583	missense	79974	exon15				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.1814T>C	7.37:g.120780995T>C	ENSP00000309772:p.Val605Ala	Somatic		Capture	SOLID	Phase_I	120568231	NM_024913	A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	T	18.78	3.696152	0.68386	.	.	ENSG00000106034	ENST00000310396;ENST00000450913;ENST00000423795	T;T;T	0.41065	1.01;1.01;1.01	5.58	5.58	0.84498	.	0.209202	0.40385	N	0.001102	T	0.55321	0.1913	M	0.64997	1.995	0.80722	D	1	D;D;P	0.55385	0.971;0.971;0.951	P;P;P	0.53954	0.654;0.721;0.738	T	0.59679	-0.7409	10	0.72032	D	0.01	.	15.7443	0.77926	0.0:0.0:0.0:1.0	.	385;605;605	G5E9U2;A4D0V7-2;A4D0V7	.;.;CG058_HUMAN	A	605;605;385	ENSP00000309772:V605A;ENSP00000406122:V605A;ENSP00000415573:V385A	ENSP00000309772:V605A	V	+	2	0	C7orf58	120568231	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	5.833000	0.69349	2.116000	0.64780	0.460000	0.39030	GTA		0.443	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913	
LRRC4	64101	hgsc.bcm.edu	37	7	127669889	127669889	+	Missense_Mutation	SNP	C	C	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr7:127669889C>G	ENST00000249363.3	-	2	1062	c.805G>C	c.(805-807)Gtg>Ctg	p.V269L	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	269					postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		TTGAGTTCCACAAGTGAAGCC	0.537																																					p.V269L												.	.	0			c.G805C	7						.						76.0	55.0	62.0					7																	127669889		2203	4300	6503	127457125	SO:0001583	missense	64101	exon2			AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"""Immunoglobulin superfamily / I-set domain containing"""	15586	protein-coding gene	gene with protein product		610486	"""leucine-rich repeat-containing 4"""			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.805G>C	7.37:g.127669889C>G	ENSP00000249363:p.Val269Leu	Somatic		Capture	SOLID	Phase_I	127457125	NM_022143	A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Missense_Mutation	SNP	ENST00000249363.3	37	CCDS5799.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.828868	0.32329	.	.	ENSG00000128594	ENST00000249363	T	0.57595	0.39	4.7	4.7	0.59300	.	0.000000	0.64402	D	0.000008	T	0.44414	0.1292	L	0.33293	1	0.50813	D	0.999896	P	0.41102	0.738	B	0.40602	0.334	T	0.40739	-0.9547	10	0.37606	T	0.19	.	15.1891	0.73028	0.0:1.0:0.0:0.0	.	269	Q9HBW1	LRRC4_HUMAN	L	269	ENSP00000249363:V269L	ENSP00000249363:V269L	V	-	1	0	LRRC4	127457125	1.000000	0.71417	0.990000	0.47175	0.998000	0.95712	5.932000	0.70121	2.408000	0.81797	0.655000	0.94253	GTG		0.537	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349170.1	NM_022143	
LRRC4	64101	hgsc.bcm.edu	37	7	127670115	127670115	+	Missense_Mutation	SNP	C	C	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr7:127670115C>G	ENST00000249363.3	-	2	836	c.579G>C	c.(577-579)gaG>gaC	p.E193D	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	193					postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		TGAACAGCCCCTCAAAAGCTC	0.552																																					p.E193D												.	.	0			c.G579C	7						.						36.0	38.0	38.0					7																	127670115		2201	4294	6495	127457351	SO:0001583	missense	64101	exon2			AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"""Immunoglobulin superfamily / I-set domain containing"""	15586	protein-coding gene	gene with protein product		610486	"""leucine-rich repeat-containing 4"""			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.579G>C	7.37:g.127670115C>G	ENSP00000249363:p.Glu193Asp	Somatic		Capture	SOLID	Phase_I	127457351	NM_022143	A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Missense_Mutation	SNP	ENST00000249363.3	37	CCDS5799.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.298289	0.23650	.	.	ENSG00000128594	ENST00000249363	D	0.91740	-2.9	4.56	4.56	0.56223	.	0.000000	0.64402	D	0.000001	T	0.75882	0.3910	N	0.02802	-0.49	0.53688	D	0.999975	P	0.38280	0.625	B	0.31614	0.133	T	0.76143	-0.3067	10	0.21540	T	0.41	.	8.4498	0.32864	0.0:0.8962:0.0:0.1038	.	193	Q9HBW1	LRRC4_HUMAN	D	193	ENSP00000249363:E193D	ENSP00000249363:E193D	E	-	3	2	LRRC4	127457351	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.662000	0.25038	2.316000	0.78162	0.655000	0.94253	GAG		0.552	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349170.1	NM_022143	
AHCYL2	23382	hgsc.bcm.edu	37	7	129062736	129062736	+	Missense_Mutation	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr7:129062736A>G	ENST00000325006.3	+	13	1571	c.1517A>G	c.(1516-1518)cAt>cGt	p.H506R	AHCYL2_ENST00000474594.1_Missense_Mutation_p.H403R|AHCYL2_ENST00000490911.1_Missense_Mutation_p.H403R|AHCYL2_ENST00000446544.2_Missense_Mutation_p.H505R|AHCYL2_ENST00000446212.1_Missense_Mutation_p.H404R|AHCYL2_ENST00000531335.2_Missense_Mutation_p.H425R	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	506					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)	p.H506R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						CAAGTTGACCATGTGATATGG	0.522																																					p.H506R	Pancreas(160;1736 1964 29875 40941 45605)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1517G	7						.						186.0	160.0	169.0					7																	129062736		2203	4300	6503	128849972	SO:0001583	missense	23382	exon13			AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"""S-adenosylhomocysteine hydrolase-like 2"""				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.1517A>G	7.37:g.129062736A>G	ENSP00000315931:p.His506Arg	Somatic		Capture	SOLID	Phase_I	128849972	NM_015328	B4DIZ5|D9N155|O94917	Missense_Mutation	SNP	ENST00000325006.3	37	CCDS5812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.75|19.75	3.885741|3.885741	0.72410|0.72410	.|.	.|.	ENSG00000158467|ENSG00000158467	ENST00000325006;ENST00000446544;ENST00000531335;ENST00000474594;ENST00000446212;ENST00000490911|ENST00000466924	T;T;T;T;T;T|.	0.75938|.	-0.98;-0.97;-0.95;-0.95;-0.95;-0.95|.	5.46|5.46	5.46|5.46	0.80206|0.80206	S-adenosyl-L-homocysteine hydrolase, NAD binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57489|0.57489	0.2057|0.2057	L|L	0.35854|0.35854	1.095|1.095	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	0.999;0.998;1.0;0.998;1.0|.	D;D;D;D;D|.	0.77557|.	0.976;0.964;0.99;0.964;0.983|.	T|T	0.54583|0.54583	-0.8272|-0.8272	10|5	0.19590|.	T|.	0.45|.	-17.0929|-17.0929	14.371|14.371	0.66840|0.66840	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	403;404;506;403;505|.	B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2|.	.;.;SAHH3_HUMAN;.;.|.	R|V	506;505;425;403;404;403|413	ENSP00000315931:H506R;ENSP00000413639:H505R;ENSP00000431787:H425R;ENSP00000420459:H403R;ENSP00000405267:H404R;ENSP00000420801:H403R|.	ENSP00000315931:H506R|.	H|M	+|+	2|1	0|0	AHCYL2|AHCYL2	128849972|128849972	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.283000|9.283000	0.95860|0.95860	2.069000|2.069000	0.61940|0.61940	0.459000|0.459000	0.35465|0.35465	CAT|ATG		0.522	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354065.1		
STRIP2	57464	hgsc.bcm.edu	37	7	129122851	129122851	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr7:129122851C>T	ENST00000249344.2	+	20	2258	c.2218C>T	c.(2218-2220)Cgt>Tgt	p.R740C	RNU1-72P_ENST00000362976.1_RNA|STRIP2_ENST00000435494.2_Missense_Mutation_p.R740C	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	740					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)		p.R740C(1)									CCAGAAAGTGCGTCACCGCAT	0.448																																					p.R740C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2218T	7						.						92.0	77.0	82.0					7																	129122851		2203	4300	6503	128910087	SO:0001583	missense	57464	exon20			AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.2218C>T	7.37:g.129122851C>T	ENSP00000249344:p.Arg740Cys	Somatic		Capture	SOLID	Phase_I	128910087	NM_020704	Q8WUZ4	Missense_Mutation	SNP	ENST00000249344.2	37	CCDS34752.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174252	0.78452	.	.	ENSG00000128578	ENST00000249344;ENST00000435494	T;T	0.60424	0.19;0.19	5.32	3.37	0.38596	.	0.000000	0.85682	D	0.000000	T	0.80374	0.4611	M	0.93106	3.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.85779	0.1360	10	0.87932	D	0	-16.371	14.0067	0.64468	0.2694:0.7306:0.0:0.0	.	740;740	Q9ULQ0;Q9ULQ0-2	FA40B_HUMAN;.	C	740	ENSP00000249344:R740C;ENSP00000392393:R740C	ENSP00000249344:R740C	R	+	1	0	FAM40B	128910087	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.864000	0.56024	1.361000	0.45981	0.655000	0.94253	CGT		0.448	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336	
PLXNA4	91584	hgsc.bcm.edu	37	7	131825532	131825532	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr7:131825532G>A	ENST00000359827.3	-	30	6226	c.5264C>T	c.(5263-5265)cCg>cTg	p.P1755L	PLXNA4_ENST00000321063.4_Missense_Mutation_p.P1755L			Q9HCM2	PLXA4_HUMAN	plexin A4	1755					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.P1755L(1)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CACAAACTGCGGGTTCTTGAT	0.562																																					p.P1755L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5264T	7						.						117.0	126.0	123.0					7																	131825532		2202	4300	6502	131476072	SO:0001583	missense	91584	exon30			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.5264C>T	7.37:g.131825532G>A	ENSP00000352882:p.Pro1755Leu	Somatic		Capture	SOLID	Phase_I	131476072	NM_020911	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.701491	0.88924	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.70045	-0.45;-0.45	5.22	4.34	0.51931	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.056957	0.64402	D	0.000001	D	0.84179	0.5415	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87397	0.2367	10	0.87932	D	0	.	13.8548	0.63519	0.0738:0.0:0.9262:0.0	.	1755	Q9HCM2	PLXA4_HUMAN	L	1755	ENSP00000323194:P1755L;ENSP00000352882:P1755L	ENSP00000323194:P1755L	P	-	2	0	PLXNA4	131476072	1.000000	0.71417	0.965000	0.40720	0.995000	0.86356	9.694000	0.98686	1.199000	0.43173	0.591000	0.81541	CCG		0.562	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775	
PLXNA4	91584	hgsc.bcm.edu	37	7	132192456	132192456	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr7:132192456C>T	ENST00000359827.3	-	2	1959	c.997G>A	c.(997-999)Gac>Aac	p.D333N	PLXNA4_ENST00000321063.4_Missense_Mutation_p.D333N|PLXNA4_ENST00000378539.5_Missense_Mutation_p.D333N|PLXNA4_ENST00000423507.2_Missense_Mutation_p.D333N			Q9HCM2	PLXA4_HUMAN	plexin A4	333	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.D333N(3)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AAGAGCAGGTCATCATCTGGA	0.577																																					p.D333N												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G997A	7						.						71.0	66.0	68.0					7																	132192456		2203	4300	6503	131842996	SO:0001583	missense	91584	exon3			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.997G>A	7.37:g.132192456C>T	ENSP00000352882:p.Asp333Asn	Somatic		Capture	SOLID	Phase_I	131842996	NM_181775	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.437998	0.62955	.	.	ENSG00000221866	ENST00000321063;ENST00000359827;ENST00000423507;ENST00000378539	T;T;T;T	0.05513	3.43;3.43;3.43;3.43	5.72	4.84	0.62591	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.64402	U	0.000004	T	0.28499	0.0705	M	0.82323	2.585	0.58432	D	0.999999	D;D;D	0.89917	0.972;0.999;1.0	P;D;D	0.72338	0.895;0.977;0.973	T	0.09751	-1.0660	10	0.59425	D	0.04	.	16.9099	0.86138	0.0:0.8721:0.1279:0.0	.	333;333;333	Q9HCM2-2;A4D1N6;Q9HCM2	.;.;PLXA4_HUMAN	N	333	ENSP00000323194:D333N;ENSP00000352882:D333N;ENSP00000392772:D333N;ENSP00000367800:D333N	ENSP00000323194:D333N	D	-	1	0	PLXNA4	131842996	1.000000	0.71417	0.958000	0.39756	0.371000	0.29859	6.058000	0.71126	1.397000	0.46682	0.655000	0.94253	GAC		0.577	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775	
PLXNA4	91584	hgsc.bcm.edu	37	7	132193158	132193158	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr7:132193158G>A	ENST00000359827.3	-	2	1257	c.295C>T	c.(295-297)Cgc>Tgc	p.R99C	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R99C|PLXNA4_ENST00000378539.5_Missense_Mutation_p.R99C|PLXNA4_ENST00000423507.2_Missense_Mutation_p.R99C			Q9HCM2	PLXA4_HUMAN	plexin A4	99	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.R99C(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGGACGATGCGGGGTGGGTAA	0.567																																					p.R99C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C295T	7						.						59.0	59.0	59.0					7																	132193158		2203	4300	6503	131843698	SO:0001583	missense	91584	exon3			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.295C>T	7.37:g.132193158G>A	ENSP00000352882:p.Arg99Cys	Somatic		Capture	SOLID	Phase_I	131843698	NM_181775	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.806004	0.50421	.	.	ENSG00000221866	ENST00000321063;ENST00000359827;ENST00000423507;ENST00000378539	T;T;T;T	0.10860	2.83;2.83;2.83;2.83	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.085958	0.47093	U	0.000251	T	0.20981	0.0505	L	0.44542	1.39	0.80722	D	1	D;D;D	0.58970	0.973;0.979;0.984	P;P;P	0.59595	0.781;0.86;0.697	T	0.00127	-1.2019	10	0.56958	D	0.05	.	12.3192	0.54975	0.0:0.0:0.7142:0.2858	.	99;99;99	Q9HCM2-2;A4D1N6;Q9HCM2	.;.;PLXA4_HUMAN	C	99	ENSP00000323194:R99C;ENSP00000352882:R99C;ENSP00000392772:R99C;ENSP00000367800:R99C	ENSP00000323194:R99C	R	-	1	0	PLXNA4	131843698	1.000000	0.71417	1.000000	0.80357	0.657000	0.38888	4.202000	0.58446	2.537000	0.85549	0.462000	0.41574	CGC		0.567	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775	
PLXNA4	91584	hgsc.bcm.edu	37	7	132193311	132193311	+	Missense_Mutation	SNP	C	C	T	rs139738239	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr7:132193311C>T	ENST00000359827.3	-	2	1104	c.142G>A	c.(142-144)Gcc>Acc	p.A48T	PLXNA4_ENST00000321063.4_Missense_Mutation_p.A48T|PLXNA4_ENST00000378539.5_Missense_Mutation_p.A48T|PLXNA4_ENST00000423507.2_Missense_Mutation_p.A48T			Q9HCM2	PLXA4_HUMAN	plexin A4	48	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.A48T(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AAACCCTCGGCGGGCTCTCCT	0.587													C|||	2	0.000399361	0.0008	0.0	5008	,	,		17693	0.001		0.0	False		,,,				2504	0.0				p.A48T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G142A	7						.	C	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	40.0	42.0	41.0		142,142,142	-5.3	0.0	7	dbSNP_134	41	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense	PLXNA4	NM_001105543.1,NM_020911.1,NM_181775.3	58,58,58	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	benign,benign,benign	48/493,48/1895,48/523	132193311	4,13002	2203	4300	6503	131843851	SO:0001583	missense	91584	exon3			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.142G>A	7.37:g.132193311C>T	ENSP00000352882:p.Ala48Thr	Somatic		Capture	SOLID	Phase_I	131843851	NM_181775	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.914448	0.00503	0.0	4.65E-4	ENSG00000221866	ENST00000321063;ENST00000359827;ENST00000423507;ENST00000378539	T;T;T;T	0.02216	5.59;5.59;4.4;4.39	5.34	-5.28	0.02755	Semaphorin/CD100 antigen (2);	0.281266	0.26522	N	0.023918	T	0.01092	0.0036	N	0.12746	0.255	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.06405	0.002;0.002;0.001	T	0.44697	-0.9311	10	0.13108	T	0.6	.	8.6539	0.34051	0.1549:0.3839:0.0:0.4612	.	48;48;48	Q9HCM2-2;A4D1N6;Q9HCM2	.;.;PLXA4_HUMAN	T	48	ENSP00000323194:A48T;ENSP00000352882:A48T;ENSP00000392772:A48T;ENSP00000367800:A48T	ENSP00000323194:A48T	A	-	1	0	PLXNA4	131843851	0.001000	0.12720	0.001000	0.08648	0.000000	0.00434	-0.853000	0.04303	-1.496000	0.01828	-2.619000	0.00157	GCC		0.587	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775	
DGKI	9162	hgsc.bcm.edu	37	7	137330249	137330249	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr7:137330249C>T	ENST00000288490.5	-	6	773	c.773G>A	c.(772-774)cGg>cAg	p.R258Q	DGKI_ENST00000446122.1_Missense_Mutation_p.R258Q|DGKI_ENST00000424189.2_Missense_Mutation_p.R258Q|DGKI_ENST00000453654.2_5'UTR	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	258					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.R258Q(1)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CCCCTCCTGCCGACGCCTGTG	0.473																																					p.R258Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G773A	7						.						75.0	67.0	70.0					7																	137330249		2203	4300	6503	136980789	SO:0001583	missense	9162	exon6			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.773G>A	7.37:g.137330249C>T	ENSP00000288490:p.Arg258Gln	Somatic		Capture	SOLID	Phase_I	136980789	NM_004717	A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	C	31	5.094059	0.94149	.	.	ENSG00000157680	ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	D;D	0.93076	-3.16;-3.16	5.63	5.63	0.86233	Protein kinase C-like, phorbol ester/diacylglycerol binding (2);	0.000000	0.85682	D	0.000000	D	0.95868	0.8655	M	0.67953	2.075	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	D	0.94392	0.7615	10	0.29301	T	0.29	.	16.6104	0.84881	0.0:1.0:0.0:0.0	.	258	O75912	DGKI_HUMAN	Q	206;258;258;258	ENSP00000288490:R258Q;ENSP00000399131:R258Q	ENSP00000288490:R258Q	R	-	2	0	DGKI	136980789	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.527000	0.67123	2.665000	0.90641	0.655000	0.94253	CGG		0.473	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717	
BRAF	673	hgsc.bcm.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												p.V600E	Colon(40;35 892 2973 5743 27438)		Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	BRAF,pituitary,NS,Substitution - Missense,0	.	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	c.T1799A	7						.						112.0	104.0	107.0					7																	140453136		2203	4300	6503	140099605	SO:0001583	missense	673	exon15	Familial Cancer Database	CFC, CFCS	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu	Somatic		Capture	SOLID	Phase_I	140099605	NM_004333	A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333	
EZH2	2146	hgsc.bcm.edu	37	7	148507452	148507452	+	Missense_Mutation	SNP	A	A	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr7:148507452A>T	ENST00000460911.1	-	17	2075	c.1987T>A	c.(1987-1989)Tgc>Agc	p.C663S	EZH2_ENST00000541220.1_Missense_Mutation_p.C612S|EZH2_ENST00000350995.2_Missense_Mutation_p.C624S|EZH2_ENST00000476773.1_Missense_Mutation_p.C612S|EZH2_ENST00000478654.1_Missense_Mutation_p.C612S|EZH2_ENST00000320356.2_Missense_Mutation_p.C668S|EZH2_ENST00000483967.1_Missense_Mutation_p.C654S			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	663	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.C668S(1)|p.C624S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			AGAAAGCTGCACATGTATTTA	0.423			Mis		DLBCL																																p.C624S			Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1870A	7						.						112.0	93.0	99.0					7																	148507452		2202	4300	6502	148138385	SO:0001583	missense	2146	exon16				CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.1987T>A	7.37:g.148507452A>T	ENSP00000419711:p.Cys663Ser	Somatic		Capture	SOLID	Phase_I	148138385	NM_152998	B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	ENST00000460911.1	37	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	a	17.39	3.376988	0.61735	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	T;T;T;T;T;T;T	0.79653	-0.95;-1.29;-1.29;-1.29;-0.95;-0.95;-1.29	5.45	5.45	0.79879	SET domain (3);	0.000000	0.85682	D	0.000000	T	0.67392	0.2888	N	0.17838	0.53	0.80722	D	1	B;B;B;B;B	0.31548	0.008;0.017;0.001;0.017;0.328	B;B;B;B;B	0.28709	0.093;0.047;0.017;0.093;0.079	T	0.65179	-0.6231	10	0.18276	T	0.48	.	15.542	0.76057	1.0:0.0:0.0:0.0	.	654;612;663;624;668	Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;EZH2_HUMAN;.;.	S	612;668;663;624;612;612;654	ENSP00000417062:C612S;ENSP00000320147:C668S;ENSP00000419711:C663S;ENSP00000223193:C624S;ENSP00000443219:C612S;ENSP00000419050:C612S;ENSP00000419856:C654S	ENSP00000320147:C668S	C	-	1	0	EZH2	148138385	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.042000	0.93793	2.064000	0.61679	0.533000	0.62120	TGC		0.423	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456	
HOXA1	3198	hgsc.bcm.edu	37	7	27134370	27134370	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr7:27134370G>A	ENST00000343060.4	-	2	758	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C	HOXA1_ENST00000355633.5_3'UTR|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000495032.1_RNA|HOTAIRM1_ENST00000429611.3_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	233					abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.R233C(2)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AAGTTGGTGCGCACCGCGTTG	0.537																																					p.R233C												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C697T	7						.						96.0	87.0	90.0					7																	27134370		2203	4300	6503	27100895	SO:0001583	missense	3198	exon2				CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"""Homeoboxes / ANTP class : HOXL subclass"""	5099	protein-coding gene	gene with protein product		142955	"""homeo box A1"""	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.697C>T	7.37:g.27134370G>A	ENSP00000343246:p.Arg233Cys	Somatic		Capture	SOLID	Phase_I	27100895	NM_005522	A4D184|B2R8U7|O43363	Missense_Mutation	SNP	ENST00000343060.4	37	CCDS5401.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.499115	0.64298	.	.	ENSG00000105991	ENST00000343060	D	0.99186	-5.53	5.31	5.31	0.75309	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.046812	0.85682	D	0.000000	D	0.99609	0.9858	H	0.99347	4.525	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97614	1.0131	10	0.87932	D	0	.	13.2081	0.59809	0.0:0.0:0.7196:0.2804	.	233	P49639	HXA1_HUMAN	C	233	ENSP00000343246:R233C	ENSP00000343246:R233C	R	-	1	0	HOXA1	27100895	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.432000	0.44784	2.495000	0.84180	0.655000	0.94253	CGC		0.537	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1		
HOXA3	3200	hgsc.bcm.edu	37	7	27148210	27148210	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr7:27148210G>A	ENST00000396352.4	-	3	855	c.656C>T	c.(655-657)cCg>cTg	p.P219L	HOXA3_ENST00000317201.2_Missense_Mutation_p.P219L|HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000521401.1_5'Flank	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	219					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P219L(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CACCCGGCGCGGCCGGCACAG	0.617																																					p.P219L	Esophageal Squamous(136;1368 1743 5685 7935 50360)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C656T	7						.						93.0	90.0	91.0					7																	27148210		2203	4300	6503	27114735	SO:0001583	missense	3200	exon3				CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"""Homeoboxes / ANTP class : HOXL subclass"""	5104	protein-coding gene	gene with protein product		142954	"""homeo box A3"""	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.656C>T	7.37:g.27148210G>A	ENSP00000379640:p.Pro219Leu	Somatic		Capture	SOLID	Phase_I	27114735	NM_030661	A4D181	Missense_Mutation	SNP	ENST00000396352.4	37	CCDS5404.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557011	0.65425	.	.	ENSG00000105997	ENST00000396352;ENST00000317201;ENST00000396350	D;D	0.96104	-3.91;-3.91	5.03	5.03	0.67393	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.150880	0.64402	D	0.000009	D	0.95360	0.8494	L	0.43598	1.365	0.80722	D	1	D	0.57571	0.98	P	0.52481	0.7	D	0.95890	0.8906	10	0.87932	D	0	.	18.5723	0.91140	0.0:0.0:1.0:0.0	.	219	O43365	HXA3_HUMAN	L	219;219;61	ENSP00000379640:P219L;ENSP00000324884:P219L	ENSP00000324884:P219L	P	-	2	0	HOXA3	27114735	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.618000	0.98365	2.620000	0.88729	0.655000	0.94253	CCG		0.617	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2		
AMPH	273	hgsc.bcm.edu	37	7	38670906	38670906	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr7:38670906G>A	ENST00000356264.2	-	1	261	c.46C>T	c.(46-48)Cga>Tga	p.R16*	AMPH_ENST00000325590.5_Nonsense_Mutation_p.R16*|AMPH_ENST00000428293.2_Nonsense_Mutation_p.R16*	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	16					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)	p.R16*(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CGGTTGAGTCGCTTCTGGACG	0.736																																					p.R16X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C46T	7						.						13.0	10.0	11.0					7																	38670906		2164	4236	6400	38637431	SO:0001587	stop_gained	273	exon1				CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.46C>T	7.37:g.38670906G>A	ENSP00000348602:p.Arg16*	Somatic		Capture	SOLID	Phase_I	38637431	NM_139316	A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Nonsense_Mutation	SNP	ENST00000356264.2	37	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	G	40	8.521271	0.98848	.	.	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000544070	.	.	.	4.35	3.35	0.38373	.	0.084914	0.43579	D	0.000560	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-7.0482	12.8805	0.58014	0.0:0.0:0.7308:0.2692	.	.	.	.	X	16	.	ENSP00000317441:R16X	R	-	1	2	AMPH	38637431	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.006000	0.40874	1.951000	0.56629	0.467000	0.42956	CGA		0.736	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635	
INHBA	3624	hgsc.bcm.edu	37	7	41739610	41739610	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr7:41739610C>T	ENST00000242208.4	-	2	609	c.363G>A	c.(361-363)tcG>tcA	p.S121S	INHBA-AS1_ENST00000422822.1_RNA|INHBA-AS1_ENST00000415848.2_RNA|INHBA-AS1_ENST00000420821.1_RNA|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Silent_p.S121S	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	121					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)	p.S121S(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TGATGATCTCCGAGGTCTGCT	0.527										TSP Lung(11;0.080)																											p.S121S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G363A	7						.						184.0	177.0	179.0					7																	41739610		2203	4300	6503	41706135	SO:0001819	synonymous_variant	3624	exon2				CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.363G>A	7.37:g.41739610C>T		Somatic		Capture	SOLID	Phase_I	41706135	NM_002192	Q14599	Silent	SNP	ENST00000242208.4	37	CCDS5464.1																																																																																				0.527	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1		
GLI3	2737	hgsc.bcm.edu	37	7	42079690	42079690	+	Silent	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr7:42079690A>G	ENST00000395925.3	-	7	1059	c.975T>C	c.(973-975)cgT>cgC	p.R325R	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	325					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R325R(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AAGAGCTGCTACGGGAATTAT	0.423									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																												p.R325R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T975C	7						.						170.0	150.0	157.0					7																	42079690		2203	4300	6503	42046215	SO:0001819	synonymous_variant	2737	exon7	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.975T>C	7.37:g.42079690A>G		Somatic		Capture	SOLID	Phase_I	42046215	NM_000168	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	CCDS5465.1																																																																																				0.423	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168	
PKD1L1	168507	hgsc.bcm.edu	37	7	47842927	47842927	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr7:47842927G>A	ENST00000289672.2	-	53	7893	c.7843C>T	c.(7843-7845)Cgg>Tgg	p.R2615W	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2615					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.R2615W(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGGATTCCCCGGAGCCATCGA	0.483																																					p.R2615W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7843T	7						.						96.0	88.0	91.0					7																	47842927		2203	4300	6503	47809452	SO:0001583	missense	168507	exon53			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.7843C>T	7.37:g.47842927G>A	ENSP00000289672:p.Arg2615Trp	Somatic		Capture	SOLID	Phase_I	47809452	NM_138295	Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.729413	0.69074	.	.	ENSG00000158683	ENST00000289672	T	0.70164	-0.46	5.18	4.29	0.51040	Polycystin cation channel, PKD1/PKD2 (1);	0.617134	0.14484	N	0.316770	T	0.54935	0.1889	N	0.14661	0.345	0.80722	D	1	P	0.46277	0.875	P	0.44394	0.448	T	0.58188	-0.7680	10	0.59425	D	0.04	-10.8872	13.5747	0.61866	0.0:0.1574:0.8426:0.0	.	2615	Q8TDX9	PK1L1_HUMAN	W	2615	ENSP00000289672:R2615W	ENSP00000289672:R2615W	R	-	1	2	PKD1L1	47809452	0.996000	0.38824	0.910000	0.35882	0.942000	0.58702	1.954000	0.40362	1.184000	0.42957	0.551000	0.68910	CGG		0.483	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295	
PKD1L1	168507	hgsc.bcm.edu	37	7	47968830	47968830	+	Missense_Mutation	SNP	G	G	A	rs146712857	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr7:47968830G>A	ENST00000289672.2	-	7	1081	c.1031C>T	c.(1030-1032)gCg>gTg	p.A344V		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	344					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.A344V(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGCAGTCACCGCCATTGCCTC	0.532													g|||	6	0.00119808	0.0045	0.0	5008	,	,		18714	0.0		0.0	False		,,,				2504	0.0				p.A344V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1031T	7						.	A	VAL/ALA	16,4390	23.3+/-48.9	0,16,2187	134.0	126.0	129.0		1031	-6.3	0.0	7	dbSNP_134	129	0,8600		0,0,4300	yes	missense	PKD1L1	NM_138295.3	64	0,16,6487	AA,AG,GG		0.0,0.3631,0.123	benign	344/2850	47968830	16,12990	2203	4300	6503	47935355	SO:0001583	missense	168507	exon7			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.1031C>T	7.37:g.47968830G>A	ENSP00000289672:p.Ala344Val	Somatic		Capture	SOLID	Phase_I	47935355	NM_138295	Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	CCDS34633.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	g	10.23	1.292851	0.23564	0.003631	0.0	ENSG00000158683	ENST00000289672	T	0.19806	2.12	4.11	-6.26	0.02033	.	6.298750	0.00397	N	0.000050	T	0.08980	0.0222	N	0.24115	0.695	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.29336	-1.0015	10	0.02654	T	1	0.2251	0.9581	0.01390	0.4249:0.1232:0.2018:0.2501	.	344	Q8TDX9	PK1L1_HUMAN	V	344	ENSP00000289672:A344V	ENSP00000289672:A344V	A	-	2	0	PKD1L1	47935355	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.751000	0.04803	-1.106000	0.03008	-1.002000	0.02502	GCG		0.532	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295	
MLXIPL	51085	hgsc.bcm.edu	37	7	73020266	73020266	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr7:73020266G>A	ENST00000313375.3	-	6	841	c.794C>T	c.(793-795)tCg>tTg	p.S265L	MLXIPL_ENST00000434326.1_Intron|MLXIPL_ENST00000354613.1_Missense_Mutation_p.S265L|MLXIPL_ENST00000429400.2_Missense_Mutation_p.S265L|MLXIPL_ENST00000395189.1_Intron|MLXIPL_ENST00000414749.2_Missense_Mutation_p.S265L	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	265					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.S265L(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTGCAGGGGCGAAGGGCCGGA	0.622																																					p.S265L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C794T	7						.						27.0	25.0	26.0					7																	73020266		2203	4300	6503	72658202	SO:0001583	missense	51085	exon6			AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"""carbohydrate response element binding protein"""	605678	"""Williams Beuren syndrome chromosome region 14"""	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.794C>T	7.37:g.73020266G>A	ENSP00000320886:p.Ser265Leu	Somatic		Capture	SOLID	Phase_I	72658202	NM_032952	C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	ENST00000313375.3	37	CCDS5553.1	.	.	.	.	.	.	.	.	.	.	G	4.907	0.168519	0.09339	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000456640	T;T;T;T;T	0.33438	2.56;2.56;2.56;2.56;1.41	3.47	2.57	0.30868	.	0.608884	0.15684	N	0.249774	T	0.17238	0.0414	N	0.20685	0.6	0.09310	N	0.999992	B;B;B;B	0.12013	0.003;0.005;0.005;0.005	B;B;B;B	0.08055	0.001;0.003;0.003;0.003	T	0.21449	-1.0245	10	0.23891	T	0.37	-0.025	7.8263	0.29318	0.0:0.0:0.7516:0.2484	.	265;265;265;265	Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	MLXPL_HUMAN;.;.;.	L	265;265;265;265;227	ENSP00000412330:S265L;ENSP00000406296:S265L;ENSP00000320886:S265L;ENSP00000346629:S265L;ENSP00000402615:S227L	ENSP00000320886:S265L	S	-	2	0	MLXIPL	72658202	0.005000	0.15991	0.003000	0.11579	0.264000	0.26372	1.573000	0.36472	0.651000	0.30788	0.313000	0.20887	TCG		0.622	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	NM_032951	
CLIP2	7461	hgsc.bcm.edu	37	7	73811460	73811460	+	Missense_Mutation	SNP	C	C	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr7:73811460C>A	ENST00000395060.1	+	13	2777	c.2777C>A	c.(2776-2778)cCg>cAg	p.P926Q	CLIP2_ENST00000223398.6_Missense_Mutation_p.P926Q|CLIP2_ENST00000361545.5_Missense_Mutation_p.P891Q			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	926						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)		p.P891Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TCCCCAGGGCCGGAGAGGGAC	0.632																																					p.P926Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2777A	7						.						99.0	90.0	93.0					7																	73811460		2203	4300	6503	73449396	SO:0001583	missense	7461	exon14			AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.2777C>A	7.37:g.73811460C>A	ENSP00000378500:p.Pro926Gln	Somatic		Capture	SOLID	Phase_I	73449396	NM_003388	O14527|O43611	Missense_Mutation	SNP	ENST00000395060.1	37	CCDS5569.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.561440	0.45590	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	T;T;T	0.58797	0.32;0.31;0.32	4.54	4.54	0.55810	.	0.219310	0.39909	N	0.001232	T	0.44456	0.1294	N	0.14661	0.345	0.29558	N	0.850811	P;B	0.42203	0.773;0.2	B;B	0.43360	0.417;0.111	T	0.40251	-0.9573	10	0.23302	T	0.38	-19.0161	15.8489	0.78912	0.0:1.0:0.0:0.0	.	891;926	Q9UDT6-2;Q9UDT6	.;CLIP2_HUMAN	Q	926;926;891;926	ENSP00000223398:P926Q;ENSP00000355151:P891Q;ENSP00000378500:P926Q	ENSP00000223398:P926Q	P	+	2	0	CLIP2	73449396	1.000000	0.71417	0.966000	0.40874	0.875000	0.50365	5.378000	0.66190	2.081000	0.62600	0.561000	0.74099	CCG		0.632	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388	
GTF2I	2969	hgsc.bcm.edu	37	7	74125430	74125430	+	Silent	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr7:74125430T>C	ENST00000324896.4	+	9	1142	c.753T>C	c.(751-753)taT>taC	p.Y251Y	AC083884.8_ENST00000434256.1_RNA|GTF2I_ENST00000346152.4_Silent_p.Y251Y|GTF2I_ENST00000353920.4_Silent_p.Y251Y|GTF2I_ENST00000443166.1_Silent_p.Y251Y|GTF2I_ENST00000416070.1_Silent_p.Y251Y|AC083884.8_ENST00000450426.2_RNA|AC083884.8_ENST00000594967.1_RNA	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	251					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y251Y(1)		NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						ATTATCAATATAACATTCAAG	0.284																																					p.Y251Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T753C	7						.						32.0	31.0	31.0					7																	74125430		2202	4299	6501	73763366	SO:0001819	synonymous_variant	2969	exon9			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.753T>C	7.37:g.74125430T>C		Somatic		Capture	SOLID	Phase_I	73763366	NM_033000	O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Silent	SNP	ENST00000324896.4	37	CCDS5573.1																																																																																				0.284	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252708.1	NM_032999	
HIP1	3092	hgsc.bcm.edu	37	7	75197554	75197554	+	Missense_Mutation	SNP	G	G	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr7:75197554G>T	ENST00000336926.6	-	9	778	c.752C>A	c.(751-753)cCa>cAa	p.P251Q	HIP1_ENST00000434438.2_Missense_Mutation_p.P251Q	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	251				KLHSCLP -> EFAAAST (in Ref. 7; CAA70574). {ECO:0000305}.	activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)	p.P251Q(1)		breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GGTGTCAGCTGGGAGGCCTGG	0.577			T	PDGFRB	CMML																																p.P251Q			Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C752A	7						.						76.0	74.0	75.0					7																	75197554		2203	4300	6503	75035490	SO:0001583	missense	3092	exon9			AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.752C>A	7.37:g.75197554G>T	ENSP00000336747:p.Pro251Gln	Somatic		Capture	SOLID	Phase_I	75035490	NM_005338	B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668547	0.88348	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.30448	1.53;1.53	4.79	4.79	0.61399	ANTH (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58793	0.2147	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.995;1.0	T	0.64466	-0.6401	10	0.62326	D	0.03	-14.6787	16.7751	0.85549	0.0:0.0:1.0:0.0	.	251;251	E7ES17;O00291	.;HIP1_HUMAN	Q	251	ENSP00000336747:P251Q;ENSP00000410300:P251Q	ENSP00000336747:P251Q	P	-	2	0	HIP1	75035490	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.595000	0.98260	2.362000	0.80069	0.655000	0.94253	CCA		0.577	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338	
GRM3	2913	hgsc.bcm.edu	37	7	86468692	86468692	+	Missense_Mutation	SNP	G	G	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr7:86468692G>T	ENST00000361669.2	+	4	2961	c.1862G>T	c.(1861-1863)gGg>gTg	p.G621V	GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.G493V|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.G213V	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	621					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.G621V(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					TTATTGTTTGGGGTTGGCCTG	0.478																																					p.G621V	GBM(52;969 1098 3139 52280)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1862T	7						.						238.0	180.0	200.0					7																	86468692		2203	4300	6503	86306628	SO:0001583	missense	2913	exon4				CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.1862G>T	7.37:g.86468692G>T	ENSP00000355316:p.Gly621Val	Somatic		Capture	SOLID	Phase_I	86306628	NM_000840	Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110748	0.77210	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.90133	-2.62;-2.62;-2.62	6.04	6.04	0.98038	GPCR, family 3, C-terminal (2);	0.047287	0.85682	D	0.000000	D	0.96194	0.8759	M	0.86573	2.825	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.96100	0.9068	10	0.87932	D	0	.	19.583	0.95478	0.0:0.0:1.0:0.0	.	213;493;621	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	V	621;213;493	ENSP00000355316:G621V;ENSP00000444064:G213V;ENSP00000441407:G493V	ENSP00000355316:G621V	G	+	2	0	GRM3	86306628	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.873000	0.98535	0.563000	0.77884	GGG		0.478	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2		
ZNF804B	219578	hgsc.bcm.edu	37	7	88963898	88963898	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr7:88963898G>A	ENST00000333190.4	+	4	2211	c.1602G>A	c.(1600-1602)ccG>ccA	p.P534P		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	534							metal ion binding (GO:0046872)	p.P534P(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATCAATATCCGAAACCAAAGA	0.368										HNSCC(36;0.09)																											p.P534P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1602A	7						.						47.0	49.0	48.0					7																	88963898		2202	4298	6500	88801834	SO:0001819	synonymous_variant	219578	exon4			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1602G>A	7.37:g.88963898G>A		Somatic		Capture	SOLID	Phase_I	88801834	NM_181646	B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	37	CCDS5613.1																																																																																				0.368	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646	
CDK14	5218	hgsc.bcm.edu	37	7	90741976	90741976	+	Missense_Mutation	SNP	G	G	A	rs546258215		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr7:90741976G>A	ENST00000380050.3	+	13	1405	c.1274G>A	c.(1273-1275)cGg>cAg	p.R425Q	CDK14_ENST00000265741.3_Missense_Mutation_p.R407Q|CDK14_ENST00000436577.2_Missense_Mutation_p.R296Q|CDK14_ENST00000406263.1_Missense_Mutation_p.R379Q			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	425					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.R407Q(2)|p.R425Q(1)		breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						CTGCCGCCACGGCTATGGGAA	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		18235	0.0		0.0	False		,,,				2504	0.001				p.R407Q	GBM(83;1228 1256 8311 16577 31299)											.	.	3	Substitution - Missense(3)	endometrium(2)|large_intestine(1)	c.G1220A	7						.						72.0	63.0	66.0					7																	90741976		2203	4300	6503	90579912	SO:0001583	missense	5218	exon12				CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"""Cyclin-dependent kinases"""	8883	protein-coding gene	gene with protein product		610679	"""PFTAIRE protein kinase 1"""	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.1274G>A	7.37:g.90741976G>A	ENSP00000369390:p.Arg425Gln	Somatic		Capture	SOLID	Phase_I	90579912	NM_012395	A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Missense_Mutation	SNP	ENST00000380050.3	37		.	.	.	.	.	.	.	.	.	.	G	21.6	4.175106	0.78564	.	.	ENSG00000058091	ENST00000380050;ENST00000265741;ENST00000406263;ENST00000436577	T;T;T;T	0.71579	-0.48;-0.47;-0.46;-0.58	6.07	6.07	0.98685	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000001	T	0.68641	0.3023	N	0.04508	-0.205	0.58432	D	0.999999	D;B;D	0.64830	0.994;0.159;0.994	D;B;D	0.64042	0.921;0.019;0.921	T	0.70561	-0.4838	10	0.27785	T	0.31	-12.114	20.6593	0.99626	0.0:0.0:1.0:0.0	.	296;407;425	E7EUK8;O94921-2;O94921	.;.;CDK14_HUMAN	Q	425;407;379;296	ENSP00000369390:R425Q;ENSP00000265741:R407Q;ENSP00000385034:R379Q;ENSP00000398936:R296Q	ENSP00000265741:R407Q	R	+	2	0	CDK14	90579912	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.819000	0.91997	2.885000	0.99019	0.655000	0.94253	CGG		0.502	CDK14-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000059970.5	NM_012395	
AKAP9	10142	hgsc.bcm.edu	37	7	91727020	91727020	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr7:91727020G>A	ENST00000359028.2	+	42	10756	c.10531G>A	c.(10531-10533)Ggc>Agc	p.G3511S	AKAP9_ENST00000356239.3_Missense_Mutation_p.G3507S|AKAP9_ENST00000358100.2_Missense_Mutation_p.G3457S			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3511					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.G3507S(1)|p.G3511S(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGGAGGAACCGGCTGTAATCA	0.373			T	BRAF	papillary thyroid																																p.G3499S			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G10495A	7						.						116.0	116.0	116.0					7																	91727020		2203	4300	6503	91564956	SO:0001583	missense	10142	exon42			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.10531G>A	7.37:g.91727020G>A	ENSP00000351922:p.Gly3511Ser	Somatic		Capture	SOLID	Phase_I	91564956	NM_147185	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	G	7.136	0.580899	0.13686	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.03496	4.0;3.99;4.07;3.91	5.18	4.3	0.51218	.	0.738549	0.11660	N	0.541935	T	0.03871	0.0109	L	0.40543	1.245	0.09310	N	1	B;B;B;B;B	0.21905	0.027;0.062;0.037;0.062;0.062	B;B;B;B;B	0.15484	0.006;0.013;0.004;0.008;0.008	T	0.44221	-0.9342	10	0.15499	T	0.54	.	9.1838	0.37158	0.0819:0.157:0.7611:0.0	.	782;3511;3511;3507;3499	B3KQF9;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	S	3507;3511;3457;3511;1353	ENSP00000348573:G3507S;ENSP00000351922:G3511S;ENSP00000350813:G3457S;ENSP00000378042:G1353S	ENSP00000348573:G3507S	G	+	1	0	AKAP9	91564956	0.044000	0.20184	0.238000	0.24106	0.418000	0.31294	2.175000	0.42491	1.313000	0.45069	0.585000	0.79938	GGC		0.373	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	
BAIAP2L1	55971	hgsc.bcm.edu	37	7	97984394	97984394	+	Silent	SNP	G	G	A	rs139302290		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr7:97984394G>A	ENST00000005260.8	-	3	389	c.174C>T	c.(172-174)atC>atT	p.I58I	BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	58	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)	p.I58I(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			CAATCTCACCGATCTTGGCCA	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		19932	0.0		0.001	False		,,,				2504	0.0				p.I58I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C174T	7						.	G		1,4405	2.1+/-5.4	0,1,2202	112.0	91.0	98.0		174	-4.5	0.9	7	dbSNP_134	98	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	BAIAP2L1	NM_018842.4		0,6,6497	AA,AG,GG		0.0581,0.0227,0.0461		58/512	97984394	6,13000	2203	4300	6503	97822330	SO:0001819	synonymous_variant	55971	exon3			AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.174C>T	7.37:g.97984394G>A		Somatic		Capture	SOLID	Phase_I	97822330	NM_018842	A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Silent	SNP	ENST00000005260.8	37	CCDS34687.1																																																																																				0.493	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334681.1	NM_018842	
TRRAP	8295	hgsc.bcm.edu	37	7	98602803	98602803	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr7:98602803C>T	ENST00000359863.4	+	68	10752	c.10543C>T	c.(10543-10545)Cgg>Tgg	p.R3515W	TRRAP_ENST00000446306.3_Missense_Mutation_p.R3504W|TRRAP_ENST00000355540.3_Missense_Mutation_p.R3486W	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3515					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.R3515W(2)|p.R3486W(2)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CGCAGCCCGGCGGCTGTACAT	0.592																																					p.R3486W												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C10456T	7						.						82.0	76.0	78.0					7																	98602803		2203	4300	6503	98440739	SO:0001583	missense	8295	exon67			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.10543C>T	7.37:g.98602803C>T	ENSP00000352925:p.Arg3515Trp	Somatic		Capture	SOLID	Phase_I	98440739	NM_003496	A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.256506	0.59321	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	D;D	0.82433	-1.61;-1.61	5.53	4.39	0.52855	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.92260	0.7545	M	0.91920	3.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93017	0.6437	10	0.87932	D	0	.	12.6071	0.56529	0.8551:0.1449:0.0:0.0	.	3486;3243;3515	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	W	3515;3486;3503	ENSP00000352925:R3515W;ENSP00000347733:R3486W	ENSP00000347733:R3486W	R	+	1	2	TRRAP	98440739	1.000000	0.71417	0.980000	0.43619	0.375000	0.29983	5.137000	0.64789	0.945000	0.37605	-0.500000	0.04577	CGG		0.592	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496	
TRRAP	8295	hgsc.bcm.edu	37	7	98608742	98608742	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr7:98608742C>T	ENST00000359863.4	+	70	11173	c.10964C>T	c.(10963-10965)gCg>gTg	p.A3655V	TRRAP_ENST00000446306.3_Missense_Mutation_p.A3644V|AC004893.11_ENST00000360902.1_RNA|TRRAP_ENST00000355540.3_Missense_Mutation_p.A3626V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3655	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.A3655V(1)|p.A3626V(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAGGAGTGGGCGCTGCACACC	0.572																																					p.A3626V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C10877T	7						.						84.0	78.0	80.0					7																	98608742		2203	4300	6503	98446678	SO:0001583	missense	8295	exon69			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.10964C>T	7.37:g.98608742C>T	ENSP00000352925:p.Ala3655Val	Somatic		Capture	SOLID	Phase_I	98446678	NM_003496	A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.240308|5.240308	0.95240|0.95240	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.75260|.	-0.92;-0.92|.	5.53|5.53	5.53|5.53	0.82687|0.82687	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75265|0.75265	0.3826|0.3826	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;0.999|.	D;D;D|.	0.91635|.	0.999;0.958;0.948|.	T|T	0.73056|0.73056	-0.4103|-0.4103	10|5	0.35671|.	T|.	0.21|.	.|.	19.4728|19.4728	0.94969|0.94969	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3626;3383;3655|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	V|C	3655;3626;3643|3384	ENSP00000352925:A3655V;ENSP00000347733:A3626V|.	ENSP00000347733:A3626V|.	A|R	+|+	2|1	0|0	TRRAP|TRRAP	98446678|98446678	1.000000|1.000000	0.71417|0.71417	0.961000|0.961000	0.40146|0.40146	0.990000|0.990000	0.78478|0.78478	7.818000|7.818000	0.86416|0.86416	2.608000|2.608000	0.88229|0.88229	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.572	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496	
LRRC4	64101	hgsc.bcm.edu	37	7	127669897	127669898	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	GC	GC	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr7:127669897_127669898delGC	ENST00000249363.3	-	2	1053_1054	c.796_797delGC	c.(796-798)gctfs	p.A266fs	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	266					postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.A266fs*11(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		CACAAGTGAAGCCAGCCCGTCA	0.545																																					p.266_266del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.796_797del	7						.																																			127457134	SO:0001589	frameshift_variant	64101	exon2			AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"""Immunoglobulin superfamily / I-set domain containing"""	15586	protein-coding gene	gene with protein product		610486	"""leucine-rich repeat-containing 4"""			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.796_797delGC	7.37:g.127669897_127669898delGC	ENSP00000249363:p.Ala266fs	Somatic		Capture	SOLID	Phase_I	127457133	NM_022143	A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Frame_Shift_Del	DEL	ENST00000249363.3	37	CCDS5799.1																																																																																				0.545	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349170.1	NM_022143	
PRKAG2	51422	hgsc.bcm.edu	37	7	151478357	151478357	+	Missense_Mutation	SNP	C	C	T	rs369471907		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr7:151478357C>T	ENST00000287878.4	-	3	851	c.347G>A	c.(346-348)cGc>cAc	p.R116H	PRKAG2_ENST00000392801.2_Missense_Mutation_p.R72H|PRKAG2_ENST00000461529.1_5'UTR	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	116					ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)	p.R116H(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	TCGAGGGGAGCGTGGCGGGGA	0.647																																					p.R116H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G347A	7						.						68.0	69.0	69.0					7																	151478357		2203	4300	6503	151109290	SO:0001583	missense	51422	exon3			AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"""AMPK gamma2"""	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.347G>A	7.37:g.151478357C>T	ENSP00000287878:p.Arg116His	Somatic		Capture	SOLID	Phase_I	151109290	NM_016203	Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Missense_Mutation	SNP	ENST00000287878.4	37	CCDS5928.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.689693	0.68271	.	.	ENSG00000106617	ENST00000287878;ENST00000392801	D;D	0.89196	-2.08;-2.48	5.1	5.1	0.69264	.	0.068626	0.53938	D	0.000044	D	0.91267	0.7247	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.83275	0.996;0.781	D	0.92476	0.5989	10	0.66056	D	0.02	.	17.5175	0.87778	0.0:1.0:0.0:0.0	.	116;116	Q8NCK6;Q9UGJ0	.;AAKG2_HUMAN	H	116;72	ENSP00000287878:R116H;ENSP00000376549:R72H	ENSP00000287878:R116H	R	-	2	0	PRKAG2	151109290	1.000000	0.71417	0.810000	0.32431	0.343000	0.28985	3.298000	0.51818	2.363000	0.80096	0.563000	0.77884	CGC		0.647	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348440.2	NM_016203	
MKKS	8195	hgsc.bcm.edu	37	20	10393186	10393186	+	Missense_Mutation	SNP	T	T	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr20:10393186T>G	ENST00000347364.3	-	3	1739	c.977A>C	c.(976-978)aAa>aCa	p.K326T	MKKS_ENST00000399054.2_Missense_Mutation_p.K326T	NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	326	Substrate-binding apical domain.				artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|chaperone-mediated protein complex assembly (GO:0051131)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|gonad development (GO:0008406)|heart development (GO:0007507)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of multicellular organism growth (GO:0040018)|protein folding (GO:0006457)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sensory perception of smell (GO:0007608)|social behavior (GO:0035176)|spermatid development (GO:0007286)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)|unfolded protein binding (GO:0051082)	p.K326T(1)		kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						ACCTGTCATTTTAGTCAGGGG	0.353																																					p.K326T	Melanoma(79;1979 2212 6640)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A977C	20						.						93.0	94.0	93.0					20																	10393186		2203	4300	6503	10341186	SO:0001583	missense	8195	exon3			AF221993	CCDS13111.1	20p12	2013-01-08			ENSG00000125863	ENSG00000125863		"""Heat Shock Proteins / Chaperonins"""	7108	protein-coding gene	gene with protein product		604896		BBS6		9467007	Standard	NR_072977		Approved		uc002wnu.2	Q9NPJ1	OTTHUMG00000031868	ENST00000347364.3:c.977A>C	20.37:g.10393186T>G	ENSP00000246062:p.Lys326Thr	Somatic		Capture	SOLID	Phase_I	10341186	NM_018848	A8K7B0|D3DW18	Missense_Mutation	SNP	ENST00000347364.3	37	CCDS13111.1	.	.	.	.	.	.	.	.	.	.	T	13.93	2.383358	0.42207	.	.	ENSG00000125863	ENST00000347364;ENST00000399054	T;T	0.77098	-1.07;-1.07	5.87	5.87	0.94306	.	0.265502	0.44902	D	0.000416	T	0.74329	0.3702	L	0.60455	1.87	0.36615	D	0.87545	B	0.31153	0.31	B	0.30943	0.122	T	0.79305	-0.1858	10	0.87932	D	0	-28.6679	12.3641	0.55219	0.0:0.0672:0.0:0.9328	.	326	Q9NPJ1	MKKS_HUMAN	T	326	ENSP00000246062:K326T;ENSP00000382008:K326T	ENSP00000246062:K326T	K	-	2	0	MKKS	10341186	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.625000	0.54238	2.371000	0.80710	0.533000	0.62120	AAA		0.353	MKKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077991.3		
ZNF133	7692	hgsc.bcm.edu	37	20	18295980	18295980	+	Missense_Mutation	SNP	C	C	T	rs149892450	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr20:18295980C>T	ENST00000316358.4	+	4	582	c.485C>T	c.(484-486)aCt>aTt	p.T162I	ZNF133_ENST00000377671.3_Missense_Mutation_p.T161I|ZNF133_ENST00000402618.2_Missense_Mutation_p.T99I|ZNF133_ENST00000538547.1_Missense_Mutation_p.T67I|RP4-568F9.3_ENST00000436848.1_RNA|ZNF133_ENST00000396026.3_Missense_Mutation_p.T165I|ZNF133_ENST00000401790.1_Missense_Mutation_p.T162I|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000535822.1_Missense_Mutation_p.T67I	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	162					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T161I(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						AAGAAAAGGACTCTGGGAGCG	0.582													C|||	6	0.00119808	0.0	0.0	5008	,	,		18808	0.0		0.005	False		,,,				2504	0.001				p.T161I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C482T	20						.	C	ILE/THR,ILE/THR	2,4404	6.2+/-15.9	0,2,2201	90.0	101.0	97.0		482,482	1.2	0.0	20	dbSNP_134	97	30,8570	20.4+/-63.3	0,30,4270	yes	missense,missense	ZNF133	NM_001083330.1,NM_003434.4	89,89	0,32,6471	TT,TC,CC		0.3488,0.0454,0.246	benign,benign	161/654,161/654	18295980	32,12974	2203	4300	6503	18243980	SO:0001583	missense	7692	exon7			AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"""Zinc fingers, C2H2-type"", ""-"""	12917	protein-coding gene	gene with protein product		604075	"""zinc finger protein 150 (pHZ-66)"", ""zinc finger protein 133 (clone pHZ-13)"""	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.485C>T	20.37:g.18295980C>T	ENSP00000346090:p.Thr162Ile	Somatic		Capture	SOLID	Phase_I	18243980	NM_003434	A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	Missense_Mutation	SNP	ENST00000316358.4	37		4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	C	3.720	-0.057729	0.07317	4.54E-4	0.003488	ENSG00000125846	ENST00000377671;ENST00000396026;ENST00000402618;ENST00000401790;ENST00000538547;ENST00000535822;ENST00000316358;ENST00000425686	T;T;T;T;T;T;T;T	0.07021	3.42;3.39;3.24;3.39;3.23;3.23;3.39;5.54	4.29	1.23	0.21249	.	0.756574	0.11753	N	0.532871	T	0.03263	0.0095	N	0.24115	0.695	0.09310	N	1	B;B;B;B	0.24483	0.104;0.074;0.018;0.032	B;B;B;B	0.25405	0.03;0.031;0.019;0.06	T	0.46317	-0.9200	10	0.18710	T	0.47	-0.5254	4.3884	0.11328	0.1588:0.5967:0.154:0.0905	.	99;165;162;161	B4DIB8;B4DHU7;P52736;P52736-2	.;.;ZN133_HUMAN;.	I	161;165;99;162;67;67;162;162	ENSP00000366899:T161I;ENSP00000400897:T165I;ENSP00000385279:T99I;ENSP00000383945:T162I;ENSP00000442978:T67I;ENSP00000439427:T67I;ENSP00000346090:T162I;ENSP00000406638:T162I	ENSP00000346090:T162I	T	+	2	0	ZNF133	18243980	0.000000	0.05858	0.000000	0.03702	0.760000	0.43138	-0.020000	0.12525	0.318000	0.23185	0.655000	0.94253	ACT		0.582	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000127616.1	NM_003434	
ABHD12	26090	hgsc.bcm.edu	37	20	25300888	25300888	+	Silent	SNP	G	G	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr20:25300888G>T	ENST00000339157.5	-	4	761	c.489C>A	c.(487-489)gcC>gcA	p.A163A	ABHD12_ENST00000376542.3_Silent_p.A163A	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12	163					adult walking behavior (GO:0007628)|phosphatidylserine catabolic process (GO:0006660)|response to auditory stimulus (GO:0010996)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)	acylglycerol lipase activity (GO:0047372)	p.A163A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						TGGAAGCCAAGGCATCCTCAT	0.572																																					p.A163A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C489A	20						.						146.0	102.0	117.0					20																	25300888		2203	4300	6503	25248888	SO:0001819	synonymous_variant	26090	exon4			AL117442	CCDS13172.1, CCDS42857.1	20p11.21	2007-04-24	2006-03-10	2006-03-10	ENSG00000100997	ENSG00000100997		"""Abhydrolase domain containing"""	15868	protein-coding gene	gene with protein product		613599	"""chromosome 20 open reading frame 22"""	C20orf22			Standard	NM_015600		Approved	DKFZP434P106, dJ965G21.2, BEM46L2, ABHD12A	uc002wuq.3	Q8N2K0	OTTHUMG00000032121	ENST00000339157.5:c.489C>A	20.37:g.25300888G>T		Somatic		Capture	SOLID	Phase_I	25248888	NM_001042472	A6NED4|A6NJ90|A8K450|B4DE71|Q5T710|Q5T711|Q96CR1|Q9BX05|Q9NPX7|Q9UFV6	Silent	SNP	ENST00000339157.5	37	CCDS42857.1																																																																																				0.572	ABHD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078423.2	NM_015600	
KIF3B	9371	hgsc.bcm.edu	37	20	30897913	30897913	+	Silent	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr20:30897913T>C	ENST00000375712.3	+	2	500	c.333T>C	c.(331-333)ggT>ggC	p.G111G	KIF3B_ENST00000418717.2_5'Flank	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	111	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)	p.G111G(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GAATCCGTGGTGACCCTGAAA	0.453																																					p.G111G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T333C	20						.						71.0	65.0	67.0					20																	30897913		2203	4300	6503	30361574	SO:0001819	synonymous_variant	9371	exon2			AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.333T>C	20.37:g.30897913T>C		Somatic		Capture	SOLID	Phase_I	30361574	NM_004798	B2RMP4|B4DSR5|E1P5M5	Silent	SNP	ENST00000375712.3	37	CCDS13200.1																																																																																				0.453	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798	
AAR2	25980	hgsc.bcm.edu	37	20	34828371	34828371	+	Missense_Mutation	SNP	G	G	A	rs201316006		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr20:34828371G>A	ENST00000373932.3	+	2	927	c.581G>A	c.(580-582)cGg>cAg	p.R194Q	AAR2_ENST00000397286.3_Missense_Mutation_p.R194Q|AAR2_ENST00000320849.4_Missense_Mutation_p.R194Q	NM_015511.3	NP_056326.2	Q9Y312	AAR2_HUMAN	AAR2 splicing factor homolog (S. cerevisiae)	194								p.R194Q(1)									GGCCTGGCCCGGCTACCAGAG	0.602																																					p.R194Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G581A	20						.	G	GLN/ARG	0,4406		0,0,2203	60.0	66.0	64.0		581	4.1	1.0	20		64	2,8598	2.2+/-6.3	0,2,4298	no	missense	C20orf4	NM_015511.3	43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	194/385	34828371	2,13004	2203	4300	6503	34291785	SO:0001583	missense	25980	exon2				CCDS13273.1	20q11.23	2012-07-20	2012-07-20	2012-07-20	ENSG00000131043	ENSG00000131043			15886	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 4"""	C20orf4			Standard	NM_015511		Approved	bA234K24.2	uc002xfc.3	Q9Y312	OTTHUMG00000032380	ENST00000373932.3:c.581G>A	20.37:g.34828371G>A	ENSP00000363043:p.Arg194Gln	Somatic		Capture	SOLID	Phase_I	34291785	NM_015511	E1P5S7|Q9H4F9|Q9P1P3|Q9UFK9	Missense_Mutation	SNP	ENST00000373932.3	37	CCDS13273.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682753	0.88542	0.0	2.33E-4	ENSG00000131043	ENST00000397286;ENST00000320849;ENST00000373932	T;T;T	0.43688	1.53;0.94;0.94	5.03	4.07	0.47477	.	0.048606	0.85682	D	0.000000	T	0.54287	0.1849	M	0.62723	1.935	0.51012	D	0.999906	D;D	0.69078	0.997;0.995	D;P	0.63033	0.91;0.87	T	0.52609	-0.8553	10	0.10636	T	0.68	.	14.3712	0.66840	0.0:0.0:0.8511:0.1489	.	194;194	A2A2Q9;Q9Y312	.;CT004_HUMAN	Q	194	ENSP00000380455:R194Q;ENSP00000313674:R194Q;ENSP00000363043:R194Q	ENSP00000313674:R194Q	R	+	2	0	C20orf4	34291785	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.042000	0.76565	1.467000	0.48044	0.655000	0.94253	CGG		0.602	AAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079001.2	NM_015511	
SAMHD1	25939	hgsc.bcm.edu	37	20	35555604	35555604	+	Missense_Mutation	SNP	C	C	T	rs369489315		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr20:35555604C>T	ENST00000262878.4	-	6	876	c.677G>A	c.(676-678)cGc>cAc	p.R226H	SAMHD1_ENST00000373694.5_Missense_Mutation_p.R11H	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	226	HD.				dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R226H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				CACCTCCGGGCGAGCAAGTGG	0.363																																					p.R226H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G677A	20						.	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	111.0	105.0	107.0		677	5.0	1.0	20		107	0,8600		0,0,4300	no	missense	SAMHD1	NM_015474.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	226/627	35555604	1,13005	2203	4300	6503	34989018	SO:0001583	missense	25939	exon6			AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"""Sterile alpha motif (SAM) domain containing"""	15925	protein-coding gene	gene with protein product	"""HD domain containing 1"", ""monocyte protein 5"", ""Aicardi-Goutieres syndrome 5"""	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.677G>A	20.37:g.35555604C>T	ENSP00000262878:p.Arg226His	Somatic		Capture	SOLID	Phase_I	34989018	NM_015474	B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Missense_Mutation	SNP	ENST00000262878.4	37	CCDS13288.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.142068	0.77775	2.27E-4	0.0	ENSG00000101347	ENST00000262878;ENST00000373694	D;D	0.90324	-2.65;-2.47	5.91	4.97	0.65823	Metal-dependent phosphohydrolase, HD domain (1);Metal-dependent phosphohydrolase, HD subdomain (1);HD domain (1);	0.163502	0.56097	D	0.000034	D	0.92903	0.7742	L	0.53780	1.695	0.51012	D	0.999906	D	0.89917	1.0	D	0.68621	0.959	D	0.92698	0.6172	10	0.54805	T	0.06	-15.8338	11.1402	0.48398	0.0:0.8597:0.0:0.1403	.	226	Q9Y3Z3	SAMH1_HUMAN	H	226;11	ENSP00000262878:R226H;ENSP00000362798:R11H	ENSP00000262878:R226H	R	-	2	0	SAMHD1	34989018	1.000000	0.71417	0.982000	0.44146	0.998000	0.95712	4.205000	0.58466	1.521000	0.48983	0.655000	0.94253	CGC		0.363	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	NM_015474	
RBL1	5933	hgsc.bcm.edu	37	20	35696398	35696398	+	Missense_Mutation	SNP	C	C	T	rs368931671		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr20:35696398C>T	ENST00000373664.3	-	3	548	c.482G>A	c.(481-483)cGg>cAg	p.R161Q	RBL1_ENST00000344359.3_Missense_Mutation_p.R161Q	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	161					chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|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)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)	p.R161Q(1)		NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CCTCTGCTTCCGGCTTCGTGG	0.294																																					p.R161Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G482A	20						.	C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	76.0	82.0	80.0		482,482	5.3	1.0	20		80	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RBL1	NM_002895.2,NM_183404.1	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	161/1069,161/1015	35696398	1,13005	2203	4300	6503	35129812	SO:0001583	missense	5933	exon3			L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.482G>A	20.37:g.35696398C>T	ENSP00000362768:p.Arg161Gln	Somatic		Capture	SOLID	Phase_I	35129812	NM_002895	A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	37	CCDS13289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.399102|5.399102	0.96030|0.96030	0.0|0.0	1.16E-4|1.16E-4	ENSG00000080839|ENSG00000080839	ENST00000525052|ENST00000373664;ENST00000344359	.|D;D	.|0.93547	.|-3.01;-3.24	5.34|5.34	5.34|5.34	0.76211|0.76211	.|Domain of unknown function DUF3452, retinoblastoma-associated (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96870|0.96870	0.8978|0.8978	M|M	0.83118|0.83118	2.625|2.625	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.993;0.997	D|D	0.95912|0.95912	0.8924|0.8924	5|10	.|0.39692	.|T	.|0.17	-2.9757|-2.9757	19.2283|19.2283	0.93825|0.93825	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|161;161	.|P28749-2;P28749	.|.;RBL1_HUMAN	R|Q	21|161	.|ENSP00000362768:R161Q;ENSP00000343646:R161Q	.|ENSP00000343646:R161Q	G|R	-|-	1|2	0|0	RBL1|RBL1	35129812|35129812	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.873000|0.873000	0.50193|0.50193	7.615000|7.615000	0.83006|0.83006	2.779000|2.779000	0.95612|0.95612	0.591000|0.591000	0.81541|0.81541	GGA|CGG		0.294	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895	
KIAA1755	85449	hgsc.bcm.edu	37	20	36869991	36869991	+	Missense_Mutation	SNP	A	A	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr20:36869991A>T	ENST00000279024.4	-	3	813	c.542T>A	c.(541-543)aTa>aAa	p.I181K		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	181								p.I181K(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TGGGCTGGTTATCTTGGTCCA	0.537																																					p.I181K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T542A	20						.						132.0	135.0	134.0					20																	36869991		2203	4300	6503	36303405	SO:0001583	missense	85449	exon3			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.542T>A	20.37:g.36869991A>T	ENSP00000279024:p.Ile181Lys	Somatic		Capture	SOLID	Phase_I	36303405	NM_001029864	Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.693488	0.88735	.	.	ENSG00000149633	ENST00000279024	T	0.10192	2.9	5.84	5.84	0.93424	.	0.110714	0.39687	N	0.001283	T	0.28830	0.0715	M	0.62723	1.935	0.80722	D	1	D	0.71674	0.998	P	0.62649	0.905	T	0.00844	-1.1543	10	0.87932	D	0	.	15.0652	0.71989	1.0:0.0:0.0:0.0	.	181	Q5JYT7	K1755_HUMAN	K	181	ENSP00000279024:I181K	ENSP00000279024:I181K	I	-	2	0	KIAA1755	36303405	1.000000	0.71417	0.995000	0.50966	0.830000	0.47004	9.339000	0.96797	2.228000	0.72767	0.533000	0.62120	ATA		0.537	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864	
LBP	3929	hgsc.bcm.edu	37	20	36982723	36982723	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr20:36982723C>T	ENST00000217407.2	+	4	569	c.408C>T	c.(406-408)atC>atT	p.I136I		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	136					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)	p.I136I(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TCAAGGGCATCAGCATTTCGG	0.567																																					p.I136I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C408T	20						.						109.0	93.0	99.0					20																	36982723		2203	4300	6503	36416137	SO:0001819	synonymous_variant	3929	exon4				CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"""BPI fold containing"""	6517	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 2"""	151990	"""lipopolysaccharide-binding protein"""			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.408C>T	20.37:g.36982723C>T		Somatic		Capture	SOLID	Phase_I	36416137	NM_004139	B2R938|O43438|Q92672|Q9H403|Q9UD66	Silent	SNP	ENST00000217407.2	37	CCDS13304.1																																																																																				0.567	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139	
EYA2	2139	hgsc.bcm.edu	37	20	45801509	45801509	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr20:45801509G>A	ENST00000327619.5	+	12	1566	c.1192G>A	c.(1192-1194)Gtt>Att	p.V398I	EYA2_ENST00000357410.3_Missense_Mutation_p.V398I|EYA2_ENST00000317304.6_Missense_Mutation_p.V368I	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	398					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)	p.V398I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CAAGAACAACGTTGGTGGTGA	0.607																																					p.V398I	Pancreas(120;56 1725 18501 25218 43520)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1192A	20						.						87.0	67.0	74.0					20																	45801509		2203	4300	6503	45234916	SO:0001583	missense	2139	exon12				CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3520	protein-coding gene	gene with protein product		601654	"""eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)"""			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.1192G>A	20.37:g.45801509G>A	ENSP00000333640:p.Val398Ile	Somatic		Capture	SOLID	Phase_I	45234916	NM_172110	Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Missense_Mutation	SNP	ENST00000327619.5	37	CCDS13403.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620858	0.87460	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304	D;D;D	0.83250	-1.7;-1.7;-1.7	5.59	4.64	0.57946	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.059939	0.64402	D	0.000003	D	0.90174	0.6929	M	0.76002	2.32	0.80722	D	1	D;D;P;P	0.76494	0.999;0.982;0.945;0.888	D;P;P;B	0.76071	0.987;0.627;0.503;0.418	D	0.90986	0.4831	10	0.62326	D	0.03	-19.0939	14.4131	0.67128	0.071:0.0:0.929:0.0	.	398;368;398;398	O00167-3;E7ETN2;A8KAG7;O00167	.;.;.;EYA2_HUMAN	I	398;398;368;368	ENSP00000333640:V398I;ENSP00000349986:V398I;ENSP00000321590:V368I	ENSP00000321590:V368I	V	+	1	0	EYA2	45234916	1.000000	0.71417	0.999000	0.59377	0.800000	0.45204	7.894000	0.87336	1.370000	0.46153	0.655000	0.94253	GTT		0.607	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244	
PRNP	5621	hgsc.bcm.edu	37	20	4680469	4680469	+	Silent	SNP	C	C	T	rs145556589	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr20:4680469C>T	ENST00000379440.4	+	2	890	c.603C>T	c.(601-603)acC>acT	p.T201T	PRNP_ENST00000430350.2_Silent_p.T201T	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	F7VJQ1	APRIO_HUMAN	prion protein	0						integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)		p.T201T(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						TCACCGAGACCGACGTTAAGA	0.517													C|||	2	0.000399361	0.0015	0.0	5008	,	,		22134	0.0		0.0	False		,,,				2504	0.0				p.T201T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C603T	20						.	C	,,,,	2,4404	4.2+/-10.8	0,2,2201	180.0	153.0	162.0		603,603,603,603,603	-7.2	0.5	20	dbSNP_134	162	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PRNP	NM_000311.3,NM_001080121.1,NM_001080122.1,NM_001080123.1,NM_183079.2	,,,,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,,,	201/254,201/254,201/254,201/254,201/254	4680469	2,13004	2203	4300	6503	4628469	SO:0001819	synonymous_variant	5621	exon2			M13899	CCDS13080.1	20p13	2014-06-05	2008-07-28		ENSG00000171867	ENSG00000171867		"""CD molecules"""	9449	protein-coding gene	gene with protein product	"""Creutzfeldt-Jakob disease"", ""Gerstmann-Strausler-Scheinker syndrome"", ""fatal familial insomnia"", ""p27-30"""	176640	"""prion protein (p27-30)"""	PRIP, GSS, CJD			Standard	NM_000311		Approved	CD230, PRP, AltPrP	uc002wkw.4	F7VJQ1	OTTHUMG00000031786	ENST00000379440.4:c.603C>T	20.37:g.4680469C>T		Somatic		Capture	SOLID	Phase_I	4628469	NM_183079		Silent	SNP	ENST00000379440.4	37	CCDS13080.1																																																																																				0.517	PRNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077820.2	NM_000311	
ZMYND8	23613	hgsc.bcm.edu	37	20	45867833	45867833	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr20:45867833C>T	ENST00000311275.7	-	15	2527	c.2274G>A	c.(2272-2274)ccG>ccA	p.P758P	ZMYND8_ENST00000355972.4_Silent_p.P758P|ZMYND8_ENST00000360911.3_Silent_p.P753P|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000352431.2_Silent_p.P778P|ZMYND8_ENST00000471951.2_Silent_p.P778P|ZMYND8_ENST00000446994.2_Silent_p.P695P|ZMYND8_ENST00000396281.4_Silent_p.P758P|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000536340.1_Silent_p.P785P|ZMYND8_ENST00000372023.3_Silent_p.P753P|ZMYND8_ENST00000262975.4_Silent_p.P758P|ZMYND8_ENST00000461685.1_Silent_p.P778P|ZMYND8_ENST00000540497.1_Silent_p.P706P	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	758					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)	p.P778P(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CCGGTGTTTCCGGGGGAGAAT	0.592																																					p.P778P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2334A	20						.						66.0	82.0	77.0					20																	45867833		2203	4300	6503	45301240	SO:0001819	synonymous_variant	23613	exon15			U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.2274G>A	20.37:g.45867833C>T		Somatic		Capture	SOLID	Phase_I	45301240	NM_012408	B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Silent	SNP	ENST00000311275.7	37		.	.	.	.	.	.	.	.	.	.	C	0.234	-1.018908	0.02078	.	.	ENSG00000101040	ENST00000467200	.	.	.	5.53	-11.1	0.00147	.	.	.	.	.	T	0.33990	0.0882	.	.	.	0.50039	D	0.999849	.	.	.	.	.	.	T	0.42155	-0.9468	4	.	.	.	-10.221	3.6157	0.08077	0.4832:0.2696:0.1001:0.147	.	.	.	.	R	686	.	.	G	-	1	0	ZMYND8	45301240	0.000000	0.05858	0.053000	0.19242	0.093000	0.18481	-2.916000	0.00696	-2.077000	0.00874	-1.058000	0.02302	GGA		0.592	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047	
PREX1	57580	hgsc.bcm.edu	37	20	47267997	47267997	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr20:47267997G>A	ENST00000371941.3	-	22	2614	c.2592C>T	c.(2590-2592)ggC>ggT	p.G864G	PREX1_ENST00000396220.1_Silent_p.G864G	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	864					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G864G(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGCACCTGACGCCTGCCGTGC	0.652																																					p.G864G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2592T	20						.						71.0	58.0	63.0					20																	47267997		2203	4300	6503	46701404	SO:0001819	synonymous_variant	57580	exon22			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.2592C>T	20.37:g.47267997G>A		Somatic		Capture	SOLID	Phase_I	46701404	NM_020820	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Silent	SNP	ENST00000371941.3	37	CCDS13410.1																																																																																				0.652	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820	
DDX27	55661	hgsc.bcm.edu	37	20	47841700	47841700	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr20:47841700G>A	ENST00000371764.4	+	6	666	c.657G>A	c.(655-657)tcG>tcA	p.S219S	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	219						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.S219S(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AAAACCTCTCGTTCCAGGACA	0.423																																					p.S219S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G657A	20						.						132.0	131.0	132.0					20																	47841700		2203	4300	6503	47275107	SO:0001819	synonymous_variant	55661	exon6			AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.657G>A	20.37:g.47841700G>A		Somatic		Capture	SOLID	Phase_I	47275107	NM_017895	A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Silent	SNP	ENST00000371764.4	37	CCDS13416.1																																																																																				0.423	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1		
DPM1	8813	hgsc.bcm.edu	37	20	49576527	49576527	+	5'Flank	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr20:49576527C>T	ENST00000371588.5	-	0	0				MOCS3_ENST00000244051.1_Missense_Mutation_p.A383V|DPM1_ENST00000371583.5_5'Flank|DPM1_ENST00000371582.4_5'Flank|DPM1_ENST00000466152.1_5'Flank	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)	p.A383V(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						CGCAGGGATGCGGAGAGCCTG	0.507																																					p.A383V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1148T	20						.						163.0	165.0	164.0					20																	49576527		2203	4300	6503	49009934	SO:0001631	upstream_gene_variant	27304	exon1			AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"""Glycosyltransferase family 2 domain containing"""	3005	protein-coding gene	gene with protein product	"""DPM synthase complex, catalytic subunit"""	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742		20.37:g.49576527C>T	Exception_encountered	Somatic		Capture	SOLID	Phase_I	49009934	NM_014484	O15157|Q6IB78|Q96HK0	Missense_Mutation	SNP	ENST00000371588.5	37	CCDS13434.1	.	.	.	.	.	.	.	.	.	.	C	2.748	-0.260661	0.05791	.	.	ENSG00000124217	ENST00000244051	T	0.30714	1.52	5.0	-3.46	0.04767	Rhodanese-like (4);Molybdenum cofactor biosynthesis, MoeB (1);	0.741033	0.13066	N	0.416488	T	0.15003	0.0362	L	0.35414	1.06	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.21895	-1.0232	9	.	.	.	-2.7735	1.2809	0.02040	0.2239:0.3168:0.2615:0.1978	.	383	O95396	MOCS3_HUMAN	V	383	ENSP00000244051:A383V	.	A	+	2	0	MOCS3	49009934	0.002000	0.14202	0.000000	0.03702	0.173000	0.22820	0.056000	0.14256	-0.847000	0.04168	-0.795000	0.03280	GCG		0.507	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859	
C20orf196	149840	hgsc.bcm.edu	37	20	5753632	5753632	+	Missense_Mutation	SNP	G	G	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr20:5753632G>C	ENST00000303142.6	+	2	208	c.121G>C	c.(121-123)Gag>Cag	p.E41Q	C20orf196_ENST00000378979.4_Missense_Mutation_p.E41Q	NM_152504.2	NP_689717.2	Q8IYI0	CT196_HUMAN	chromosome 20 open reading frame 196	41								p.E41Q(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						AGCCAACAGCGAGGCTTTCAG	0.448																																					p.E41Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G121C	20						.						159.0	154.0	156.0					20																	5753632		2203	4300	6503	5701632	SO:0001583	missense	149840	exon2			AK057796	CCDS13091.1	20p12.3	2006-07-07			ENSG00000171984	ENSG00000171984			26318	protein-coding gene	gene with protein product						12477932	Standard	NM_152504		Approved	FLJ25067	uc002wmf.3	Q8IYI0	OTTHUMG00000031813	ENST00000303142.6:c.121G>C	20.37:g.5753632G>C	ENSP00000305875:p.Glu41Gln	Somatic		Capture	SOLID	Phase_I	5701632	NM_152504	A8K9J3|Q5TGA9|Q96LU1	Missense_Mutation	SNP	ENST00000303142.6	37	CCDS13091.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.335709	0.60853	.	.	ENSG00000171984	ENST00000378979;ENST00000303142;ENST00000378971;ENST00000445603;ENST00000442185;ENST00000541651	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.96	5.01	0.66863	.	0.719070	0.12803	N	0.437788	T	0.63189	0.2490	L	0.59436	1.845	0.09310	N	1	D	0.63046	0.992	P	0.58210	0.835	T	0.54098	-0.8344	10	0.51188	T	0.08	-2.4911	10.2677	0.43464	0.0918:0.0:0.9082:0.0	.	41	Q8IYI0	CT196_HUMAN	Q	41;41;41;41;88;88	ENSP00000368263:E41Q;ENSP00000305875:E41Q;ENSP00000399331:E41Q;ENSP00000410534:E88Q	ENSP00000305875:E41Q	E	+	1	0	C20orf196	5701632	0.104000	0.21937	0.005000	0.12908	0.856000	0.48823	2.238000	0.43070	1.496000	0.48567	0.650000	0.86243	GAG		0.448	C20orf196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077882.2	NM_152504	
STX16	8675	hgsc.bcm.edu	37	20	57242621	57242621	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr20:57242621C>T	ENST00000371141.4	+	3	944	c.220C>T	c.(220-222)Cca>Tca	p.P74S	STX16_ENST00000361770.5_Missense_Mutation_p.P57S|STX16_ENST00000371132.4_Missense_Mutation_p.P53S|STX16_ENST00000359617.4_Missense_Mutation_p.P21S|STX16_ENST00000358029.4_Missense_Mutation_p.P70S|STX16_ENST00000361830.3_Missense_Mutation_p.P74S|STX16_ENST00000496003.1_3'UTR|STX16-NPEPL1_ENST00000530122.1_Missense_Mutation_p.P74S|STX16_ENST00000355957.5_Missense_Mutation_p.P57S	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	74					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)	p.P53S(1)		breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			GACAAAACGGCCACCTCCTAA	0.413																																					p.P53S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C157T	20						.						144.0	134.0	138.0					20																	57242621		2203	4300	6503	56676027	SO:0001583	missense	8675	exon2			AF038897	CCDS13468.1, CCDS13469.1, CCDS46619.1, CCDS46620.1, CCDS56199.1	20q13.32	2008-07-02			ENSG00000124222	ENSG00000124222			11431	protein-coding gene	gene with protein product		603666				9464276, 9587053, 15800843	Standard	NM_003763		Approved	hsyn16, SYN16	uc002xzi.3	O14662	OTTHUMG00000033084	ENST00000371141.4:c.220C>T	20.37:g.57242621C>T	ENSP00000360183:p.Pro74Ser	Somatic		Capture	SOLID	Phase_I	56676027	NM_003763	A6NK32|A6NN69|A8MPP0|B7ZBN1|B7ZBN2|B7ZBN3|E1P5M0|E1P607|O14661|O14663|O60517|Q5W084|Q5W086|Q5W087|Q5XKI6|Q6GMS8|Q9H0Z0|Q9H1T7|Q9H1T8|Q9UIX5	Missense_Mutation	SNP	ENST00000371141.4	37	CCDS13468.1	.	.	.	.	.	.	.	.	.	.	C	2.307	-0.358801	0.05138	.	.	ENSG00000124222	ENST00000458280;ENST00000355957;ENST00000361770;ENST00000312283;ENST00000412911;ENST00000359617;ENST00000371141;ENST00000371138;ENST00000371132;ENST00000358029;ENST00000361830;ENST00000438253	T;T;T;T;T;T;T	0.62498	1.01;1.02;0.02;1.03;1.02;1.04;1.03	5.57	0.537	0.17144	t-SNARE (1);	0.184484	0.30311	N	0.009907	T	0.42585	0.1209	L	0.29908	0.895	0.20821	N	0.999849	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.001	T	0.18241	-1.0343	10	0.30078	T	0.28	.	6.5425	0.22388	0.0:0.3574:0.1276:0.515	.	70;57;53;74	Q6GMS8;O14662-4;O14662-2;O14662	.;.;.;STX16_HUMAN	S	21;57;57;21;21;21;74;21;53;70;74;16	ENSP00000348229:P57S;ENSP00000355408:P57S;ENSP00000352634:P21S;ENSP00000360183:P74S;ENSP00000360173:P53S;ENSP00000350723:P70S;ENSP00000354445:P74S	ENSP00000360180:P21S	P	+	1	0	STX16	56676027	0.012000	0.17670	0.007000	0.13788	0.962000	0.63368	0.220000	0.17660	-0.157000	0.11059	-0.383000	0.06682	CCA		0.413	STX16-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080517.2	NM_001001433	
MYT1	4661	hgsc.bcm.edu	37	20	62843476	62843476	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr20:62843476G>A	ENST00000328439.1	+	9	1866	c.1502G>A	c.(1501-1503)cGc>cAc	p.R501H	MYT1_ENST00000360149.4_Missense_Mutation_p.R203H|MYT1_ENST00000536311.1_Missense_Mutation_p.R501H	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R501H(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AACAGCAACCGCAACACGCAC	0.662																																					p.R501H	GBM(59;481 1041 20555 21139 33705)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1502A	20						.						118.0	111.0	113.0					20																	62843476		2203	4300	6503	62313920	SO:0001583	missense	4661	exon9			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1502G>A	20.37:g.62843476G>A	ENSP00000327465:p.Arg501His	Somatic		Capture	SOLID	Phase_I	62313920	NM_004535	B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717521	0.68844	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.68331	0.55;-0.32;1.55	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.77579	0.4151	L	0.46157	1.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.80525	-0.1344	10	0.72032	D	0.01	-24.8969	17.4965	0.87719	0.0:0.0:1.0:0.0	.	501;501;203	F5H7M8;Q01538;Q6P6D5	.;MYT1_HUMAN;.	H	203;501;501	ENSP00000353269:R203H;ENSP00000327465:R501H;ENSP00000442412:R501H	ENSP00000327465:R501H	R	+	2	0	MYT1	62313920	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	9.725000	0.98778	2.187000	0.69744	0.557000	0.71058	CGC		0.662	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535	
PAK7	57144	hgsc.bcm.edu	37	20	9523320	9523320	+	Silent	SNP	G	G	A	rs191751301		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr20:9523320G>A	ENST00000378429.3	-	10	2463	c.1917C>T	c.(1915-1917)ggC>ggT	p.G639G	PAK7_ENST00000378423.1_Silent_p.G639G|PAK7_ENST00000353224.5_Silent_p.G639G	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	639	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G639G(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AGGGGGGCTCGCCATCAATCA	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		17558	0.0		0.001	False		,,,				2504	0.0				p.G639G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1917T	20						.						129.0	119.0	123.0					20																	9523320		2203	4300	6503	9471320	SO:0001819	synonymous_variant	57144	exon9			AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1917C>T	20.37:g.9523320G>A		Somatic		Capture	SOLID	Phase_I	9471320	NM_177990	A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Silent	SNP	ENST00000378429.3	37	CCDS13107.1																																																																																				0.522	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1		
PMEPA1	56937	hgsc.bcm.edu	37	20	56227177	56227178	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	TG	TG	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr20:56227177_56227178delTG	ENST00000341744.3	-	4	1114_1115	c.795_796delCA	c.(793-798)cacatcfs	p.I266fs	PMEPA1_ENST00000265626.4_Frame_Shift_Del_p.I216fs|PMEPA1_ENST00000347215.4_Frame_Shift_Del_p.I231fs|PMEPA1_ENST00000395816.3_Frame_Shift_Del_p.I216fs|PMEPA1_ENST00000395814.1_Frame_Shift_Del_p.I216fs	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	266					androgen receptor signaling pathway (GO:0030521)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)	p.I266fs*15(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						AGGGGCGCGATGTGTGTGTGGT	0.653																																					p.230_231del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.690_691del	20						.																																			55660584	SO:0001589	frameshift_variant	56937	exon4			AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225			14107	protein-coding gene	gene with protein product	"""solid tumor-associated 1"""	606564	"""transmembrane, prostate androgen induced RNA"""	TMEPAI		10873380	Standard	NM_020182		Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.795_796delCA	20.37:g.56227185_56227186delTG	ENSP00000345826:p.Ile266fs	Somatic		Capture	SOLID	Phase_I	55660583	NM_199169	Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Frame_Shift_Del	DEL	ENST00000341744.3	37	CCDS13463.1																																																																																				0.653	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	NM_020182	
MYT1	4661	hgsc.bcm.edu	37	20	62871752	62871752	+	Missense_Mutation	SNP	A	A	T	rs371121354		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr20:62871752A>T	ENST00000328439.1	+	23	3681	c.3317A>T	c.(3316-3318)aAg>aTg	p.K1106M	MYT1_ENST00000536311.1_Missense_Mutation_p.K1133M	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CCGGAGAACAAGGACCTCCTG	0.557																																					p.K1106M	GBM(59;481 1041 20555 21139 33705)											.	.	0			c.A3317T	20						.						116.0	91.0	100.0					20																	62871752		2203	4300	6503	62342196	SO:0001583	missense	4661	exon23			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.3317A>T	20.37:g.62871752A>T	ENSP00000327465:p.Lys1106Met	Somatic		Capture	SOLID	Phase_I	62342196	NM_004535	B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	A	13.82	2.350312	0.41599	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.58358	0.36;0.34	5.42	4.32	0.51571	.	0.054215	0.64402	D	0.000001	T	0.68659	0.3025	M	0.69823	2.125	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69824	0.955;0.966	T	0.71203	-0.4662	10	0.87932	D	0	-29.9572	11.4092	0.49915	0.9288:0.0:0.0712:0.0	.	1133;1106	F5H7M8;Q01538	.;MYT1_HUMAN	M	1106;1133	ENSP00000327465:K1106M;ENSP00000442412:K1133M	ENSP00000327465:K1106M	K	+	2	0	MYT1	62342196	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.064000	0.57506	0.999000	0.39023	0.533000	0.62120	AAG		0.557	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535	
EDDM3A	10876	hgsc.bcm.edu	37	14	21216002	21216002	+	Missense_Mutation	SNP	G	G	A	rs199609364		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr14:21216002G>A	ENST00000326842.2	+	2	390	c.263G>A	c.(262-264)cGa>cAa	p.R88Q		NM_006683.4	NP_006674.2	Q14507	EP3A_HUMAN	epididymal protein 3A	88					sperm displacement (GO:0007321)	extracellular space (GO:0005615)		p.R88Q(1)		breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						GGGAGCGACCGATATAGAAAT	0.453																																					p.R88Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G263A	14						.						92.0	87.0	88.0					14																	21216002		2203	4300	6503	20285842	SO:0001583	missense	10876	exon2			X76383	CCDS9556.1	14q11.1	2010-03-19	2010-01-27	2010-01-27	ENSG00000181562	ENSG00000181562			16978	protein-coding gene	gene with protein product		611580	"""family with sequence similarity 12, member A"""	FAM12A		7514008	Standard	NM_006683		Approved	HE3-ALPHA	uc001vyc.3	Q14507	OTTHUMG00000029581	ENST00000326842.2:c.263G>A	14.37:g.21216002G>A	ENSP00000315098:p.Arg88Gln	Somatic		Capture	SOLID	Phase_I	20285842	NM_006683	Q4KN33	Missense_Mutation	SNP	ENST00000326842.2	37	CCDS9556.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414936	0.62511	.	.	ENSG00000181562	ENST00000326842	T	0.72942	-0.7	1.9	-1.58	0.08479	Ribonuclease A, domain (2);	0.326372	0.22269	N	0.062285	T	0.55689	0.1936	L	0.55481	1.735	0.09310	N	1	P	0.51449	0.945	B	0.39904	0.313	T	0.54437	-0.8294	10	0.62326	D	0.03	.	4.1624	0.10291	0.1685:0.4439:0.3876:0.0	.	88	Q14507	EP3A_HUMAN	Q	88	ENSP00000315098:R88Q	ENSP00000315098:R88Q	R	+	2	0	EDDM3A	20285842	0.001000	0.12720	0.000000	0.03702	0.556000	0.35491	0.142000	0.16096	-0.447000	0.07138	0.313000	0.20887	CGA		0.453	EDDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073742.3		
SALL2	6297	hgsc.bcm.edu	37	14	21992437	21992437	+	Silent	SNP	C	C	T	rs145646223		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr14:21992437C>T	ENST00000327430.3	-	2	1719	c.1425G>A	c.(1423-1425)aaG>aaA	p.K475K	SALL2_ENST00000317492.5_Intron|AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_Silent_p.K338K	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	475					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K475K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CCACCAGAGGCTTGCGCTCAA	0.602													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17423	0.0		0.0	False		,,,				2504	0.0				p.K475K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1425A	14						.	C		1,4405	2.1+/-5.4	0,1,2202	37.0	32.0	34.0		1425	3.7	1.0	14	dbSNP_134	34	0,8600		0,0,4300	no	coding-synonymous	SALL2	NM_005407.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		475/1008	21992437	1,13005	2203	4300	6503	21062277	SO:0001819	synonymous_variant	6297	exon2			AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.1425G>A	14.37:g.21992437C>T		Somatic		Capture	SOLID	Phase_I	21062277	NM_005407	B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Silent	SNP	ENST00000327430.3	37	CCDS32045.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	4.970	0.180197	0.09443	2.27E-4	0.0	ENSG00000165821	ENST00000546363	.	.	.	4.6	3.69	0.42338	.	.	.	.	.	T	0.59595	0.2205	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56312	-0.8000	4	.	.	.	-10.4153	9.6182	0.39706	0.0:0.8948:0.0:0.1052	.	.	.	.	N	334	.	.	S	-	2	0	SALL2	21062277	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	1.042000	0.30303	1.126000	0.42016	0.563000	0.77884	AGC		0.602	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407	
SLC7A8	23428	hgsc.bcm.edu	37	14	23612402	23612402	+	Missense_Mutation	SNP	A	A	G	rs148060289		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr14:23612402A>G	ENST00000316902.7	-	4	1245	c.520T>C	c.(520-522)Tgg>Cgg	p.W174R	SLC7A8_ENST00000469263.1_Missense_Mutation_p.W174R|SLC7A8_ENST00000532568.1_5'UTR|SLC7A8_ENST00000529705.2_Missense_Mutation_p.W69R|SLC7A8_ENST00000453702.1_5'UTR|SLC7A8_ENST00000422941.2_Start_Codon_SNP_p.M1T	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	174					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)	p.W174R(1)		autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	CAGTTGACCCATGTGAGGAGC	0.552																																					p.W174R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T520C	14						.	A	ARG/TRP,	0,4406		0,0,2203	91.0	90.0	90.0		520,	5.8	1.0	14	dbSNP_134	90	4,8596	3.0+/-9.4	0,4,4296	yes	missense,utr-5	SLC7A8	NM_012244.2,NM_182728.1	101,	0,4,6499	GG,GA,AA		0.0465,0.0,0.0308	probably-damaging,	174/536,	23612402	4,13002	2203	4300	6503	22682242	SO:0001583	missense	23428	exon4			Y18483	CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1	14q11.2	2013-05-22	2011-07-12		ENSG00000092068	ENSG00000092068		"""Solute carriers"""	11066	protein-coding gene	gene with protein product		604235				10080183, 10391915	Standard	NM_001267036		Approved	LPI-PC1, LAT2	uc001wiz.4	Q9UHI5	OTTHUMG00000028720	ENST00000316902.7:c.520T>C	14.37:g.23612402A>G	ENSP00000320378:p.Trp174Arg	Somatic		Capture	SOLID	Phase_I	22682242	NM_012244	B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Missense_Mutation	SNP	ENST00000316902.7	37	CCDS9590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.09|18.09	3.546307|3.546307	0.65198|0.65198	0.0|0.0	4.65E-4|4.65E-4	ENSG00000092068|ENSG00000092068	ENST00000422941|ENST00000316902;ENST00000469263;ENST00000529705	D|D;D;D	0.86366|0.89810	-2.11|-2.57;-2.57;-2.57	5.75|5.75	5.75|5.75	0.90469|0.90469	.|Amino acid permease domain (1);	.|0.113488	.|0.64402	.|D	.|0.000003	D|D	0.94437|0.94437	0.8210|0.8210	M|M	0.80847|0.80847	2.515|2.515	0.80722|0.80722	D|D	1|1	B|D;D;D	0.19817|0.89917	0.039|0.999;1.0;1.0	B|D;D;D	0.16722|0.85130	0.016|0.989;0.997;0.997	D|D	0.94854|0.94854	0.8016|0.8016	9|10	0.87932|0.66056	D|D	0|0.02	.|.	15.3505|15.3505	0.74380|0.74380	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1|69;174;174	B4DTV6|B4DKT4;E9PLV9;Q9UHI5	.|.;.;LAT2_HUMAN	T|R	1|174;174;69	ENSP00000416398:M1T|ENSP00000320378:W174R;ENSP00000435114:W174R;ENSP00000434345:W69R	ENSP00000416398:M1T|ENSP00000320378:W174R	M|W	-|-	2|1	0|0	SLC7A8|SLC7A8	22682242|22682242	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.526000|8.526000	0.90588|0.90588	2.333000|2.333000	0.79357|0.79357	0.533000|0.533000	0.62120|0.62120	ATG|TGG		0.552	SLC7A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071718.3		
CTSG	1511	hgsc.bcm.edu	37	14	25043933	25043933	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr14:25043933C>T	ENST00000216336.2	-	3	323	c.287G>A	c.(286-288)cGc>cAc	p.R96H		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	96	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.R96H(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TTGAGGGTGGCGGATGGCTCT	0.532																																					p.R96H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G287A	14						.						216.0	172.0	187.0					14																	25043933		2203	4300	6503	24113773	SO:0001583	missense	1511	exon3			M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.287G>A	14.37:g.25043933C>T	ENSP00000216336:p.Arg96His	Somatic		Capture	SOLID	Phase_I	24113773	NM_001911	Q6IBJ6|Q9UCA5|Q9UCU6	Missense_Mutation	SNP	ENST00000216336.2	37	CCDS9631.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.911272	0.33721	.	.	ENSG00000100448	ENST00000216336	D	0.93133	-3.17	5.14	-9.3	0.00649	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.559992	0.13176	N	0.407885	T	0.81336	0.4801	N	0.25825	0.765	0.24227	N	0.995411	B	0.26672	0.156	B	0.21360	0.034	T	0.67457	-0.5666	10	0.33141	T	0.24	.	4.6019	0.12357	0.2508:0.1377:0.476:0.1355	.	96	P08311	CATG_HUMAN	H	96	ENSP00000216336:R96H	ENSP00000216336:R96H	R	-	2	0	CTSG	24113773	0.000000	0.05858	0.159000	0.22649	0.012000	0.07955	-3.465000	0.00462	-1.665000	0.01477	-0.947000	0.02670	CGC		0.532	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911	
LRFN5	145581	hgsc.bcm.edu	37	14	42361134	42361134	+	Silent	SNP	G	G	A	rs143357119	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr14:42361134G>A	ENST00000298119.4	+	4	3256	c.2067G>A	c.(2065-2067)ggG>ggA	p.G689G	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	689						integral component of membrane (GO:0016021)		p.G689G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TCACAGAGGGGCCCACGTCTA	0.463										HNSCC(30;0.082)																											p.G689G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2067A	14						.						57.0	53.0	55.0					14																	42361134		2203	4300	6503	41430884	SO:0001819	synonymous_variant	145581	exon4			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.2067G>A	14.37:g.42361134G>A		Somatic		Capture	SOLID	Phase_I	41430884	NM_152447	B3KU78|Q86XL2	Silent	SNP	ENST00000298119.4	37	CCDS9678.1																																																																																				0.463	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447	
NIN	51199	hgsc.bcm.edu	37	14	51288635	51288635	+	Missense_Mutation	SNP	G	G	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr14:51288635G>T	ENST00000382041.3	-	3	330	c.140C>A	c.(139-141)cCa>cAa	p.P47Q	NIN_ENST00000324330.9_Missense_Mutation_p.P47Q|NIN_ENST00000389868.3_Missense_Mutation_p.P47Q|NIN_ENST00000382043.4_Missense_Mutation_p.P47Q|NIN_ENST00000453196.1_Missense_Mutation_p.P47Q|RP11-286O18.1_ENST00000555966.1_RNA|NIN_ENST00000530997.2_Missense_Mutation_p.P47Q|NIN_ENST00000245441.5_Missense_Mutation_p.P47Q	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	47	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.P53Q(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CTGCAGCACTGGGGCCACCTC	0.587			T	PDGFRB	MPD																																p.P47Q			Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C140A	14						.						240.0	230.0	234.0					14																	51288635		2203	4300	6503	50358385	SO:0001583	missense	51199	exon3			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.140C>A	14.37:g.51288635G>T	ENSP00000371472:p.Pro47Gln	Somatic		Capture	SOLID	Phase_I	50358385	NM_182944	A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.654495	0.88056	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196;ENST00000453401;ENST00000496749	T;T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.92;1.74	5.5	5.5	0.81552	EF-hand-like domain (1);	0.103077	0.64402	D	0.000002	T	0.48554	0.1506	N	0.24115	0.695	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.999;1.0;0.999	T	0.51529	-0.8694	10	0.66056	D	0.02	-15.6279	17.9665	0.89100	0.0:0.0:1.0:0.0	.	53;47;47;47;47	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	Q	47;47;47;47;53;47;47;47;9;47	ENSP00000245441:P47Q;ENSP00000374518:P47Q;ENSP00000371474:P47Q;ENSP00000371472:P47Q;ENSP00000324210:P47Q;ENSP00000412391:P47Q;ENSP00000398641:P9Q;ENSP00000431826:P47Q	ENSP00000245441:P47Q	P	-	2	0	NIN	50358385	1.000000	0.71417	0.982000	0.44146	0.920000	0.55202	8.937000	0.92936	2.576000	0.86940	0.655000	0.94253	CCA		0.587	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946	
BMP4	652	hgsc.bcm.edu	37	14	54416755	54416755	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr14:54416755G>A	ENST00000245451.4	-	4	1615	c.1222C>T	c.(1222-1224)Cgc>Tgc	p.R408C	BMP4_ENST00000558984.1_Missense_Mutation_p.R408C|MIR5580_ENST00000580850.1_RNA|BMP4_ENST00000559087.1_Missense_Mutation_p.R408C|BMP4_ENST00000417573.1_Missense_Mutation_p.R408C	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	408					activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification (GO:0009948)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|BMP signaling pathway involved in nephric duct formation (GO:0071893)|BMP signaling pathway involved in renal system segmentation (GO:0061151)|BMP signaling pathway involved in ureter morphogenesis (GO:0061149)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchus development (GO:0060433)|bud dilation involved in lung branching (GO:0060503)|bud elongation involved in lung branching (GO:0060449)|cardiac septum development (GO:0003279)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte differentiation (GO:0002062)|cloacal septation (GO:0060197)|common-partner SMAD protein phosphorylation (GO:0007182)|cranial suture morphogenesis (GO:0060363)|deltoid tuberosity development (GO:0035993)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint morphogenesis (GO:0060272)|endocardial cushion development (GO:0003197)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in lung morphogenesis (GO:0060502)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal cell signaling (GO:0060684)|erythrocyte differentiation (GO:0030218)|extracellular matrix organization (GO:0030198)|germ cell development (GO:0007281)|glomerular capillary formation (GO:0072104)|glomerular visceral epithelial cell development (GO:0072015)|hematopoietic progenitor cell differentiation (GO:0002244)|inner ear receptor cell differentiation (GO:0060113)|intermediate mesodermal cell differentiation (GO:0048392)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|mammary gland formation (GO:0060592)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal cell proliferation involved in ureter development (GO:0072198)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate determination (GO:0007500)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway (GO:0072097)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of glomerulus development (GO:0090194)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell proliferation involved in ureter development (GO:0072200)|negative regulation of metanephric comma-shaped body morphogenesis (GO:2000007)|negative regulation of metanephric S-shaped body morphogenesis (GO:2000005)|negative regulation of mitosis (GO:0045839)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of cardiac muscle fiber development (GO:0055020)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell death (GO:0010942)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of kidney development (GO:0090184)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|pulmonary artery endothelial tube morphogenesis (GO:0061155)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|renal system process (GO:0003014)|secondary heart field specification (GO:0003139)|SMAD protein signal transduction (GO:0060395)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|specification of organ position (GO:0010159)|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway (GO:0072101)|steroid hormone mediated signaling pathway (GO:0043401)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|tendon cell differentiation (GO:0035990)|trachea development (GO:0060438)|trachea formation (GO:0060440)|type B pancreatic cell development (GO:0003323)|ureter epithelial cell differentiation (GO:0072192)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	BMP receptor binding (GO:0070700)|chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|heparin binding (GO:0008201)	p.R408C(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						TGATCTCAGCGGCACCCACAT	0.498																																					p.R408C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1222T	14						.						112.0	92.0	99.0					14																	54416755		2203	4300	6503	53486505	SO:0001583	missense	652	exon4			AF035427	CCDS9715.1	14q22-q23	2014-01-30			ENSG00000125378	ENSG00000125378		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1071	protein-coding gene	gene with protein product		112262		BMP2B		7558046, 7579580	Standard	NM_001202		Approved		uc010aoh.3	P12644	OTTHUMG00000140303	ENST00000245451.4:c.1222C>T	14.37:g.54416755G>A	ENSP00000245451:p.Arg408Cys	Somatic		Capture	SOLID	Phase_I	53486505	NM_130851	Q9UM80	Missense_Mutation	SNP	ENST00000245451.4	37	CCDS9715.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.762913	0.69763	.	.	ENSG00000125378	ENST00000245451;ENST00000417573	T;T	0.67171	-0.25;-0.25	5.21	5.21	0.72293	Transforming growth factor-beta, C-terminal (3);	0.096875	0.64402	D	0.000001	D	0.88976	0.6584	H	0.98646	4.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92830	0.6279	10	0.87932	D	0	.	16.3021	0.82825	0.0:0.0:1.0:0.0	.	408	P12644	BMP4_HUMAN	C	408	ENSP00000245451:R408C;ENSP00000394165:R408C	ENSP00000245451:R408C	R	-	1	0	BMP4	53486505	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	9.648000	0.98483	2.712000	0.92718	0.561000	0.74099	CGC		0.498	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276894.2	NM_001202	
DACT1	51339	hgsc.bcm.edu	37	14	59112892	59112892	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr14:59112892C>T	ENST00000335867.4	+	4	1575	c.1551C>T	c.(1549-1551)ggC>ggT	p.G517G	DACT1_ENST00000395153.3_Silent_p.G480G|DACT1_ENST00000541264.2_Silent_p.G236G|DACT1_ENST00000556859.1_Silent_p.G236G			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	517					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)	p.G517G(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GCCTGCAGGGCGTCCCCCCGG	0.592																																					p.G480G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1440T	14						.						50.0	64.0	59.0					14																	59112892		2200	4298	6498	58182645	SO:0001819	synonymous_variant	51339	exon4			AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1551C>T	14.37:g.59112892C>T		Somatic		Capture	SOLID	Phase_I	58182645	NM_001079520	A8MYJ2|Q86TY0	Silent	SNP	ENST00000335867.4	37	CCDS9736.1																																																																																				0.592	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651	
MTHFD1	4522	hgsc.bcm.edu	37	14	64906967	64906967	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr14:64906967G>A	ENST00000545908.1	+	18	2195	c.1966G>A	c.(1966-1968)Gtc>Atc	p.V656I	MTHFD1_ENST00000216605.8_Missense_Mutation_p.V600I|CTD-2555O16.4_ENST00000609125.1_RNA|CTD-2555O16.2_ENST00000556640.1_RNA			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	600	Formyltetrahydrofolate synthetase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)	p.V600I(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	AGGAGAGCCCGTCAGTGCCGA	0.493																																					p.V600I	Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1798A	14						.						57.0	50.0	52.0					14																	64906967		2203	4300	6503	63976720	SO:0001583	missense	4522	exon18			J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.1966G>A	14.37:g.64906967G>A	ENSP00000438588:p.Val656Ile	Somatic		Capture	SOLID	Phase_I	63976720	NM_005956	B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	ENST00000545908.1	37		.	.	.	.	.	.	.	.	.	.	G	8.642	0.896141	0.17686	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605;ENST00000555252	T;T;T;T	0.26067	1.76;1.76;1.76;1.76	5.73	-2.38	0.06622	.	0.270149	0.42172	N	0.000753	T	0.17323	0.0416	L	0.37697	1.125	0.39202	D	0.963169	B;B;B	0.24576	0.106;0.016;0.005	B;B;B	0.23716	0.047;0.048;0.018	T	0.11717	-1.0576	10	0.22706	T	0.39	-6.8226	13.6509	0.62310	0.3727:0.0:0.6273:0.0	.	656;600;600	F5H2F4;P11586;G3V2B8	.;C1TC_HUMAN;.	I	656;600;656;580	ENSP00000438588:V656I;ENSP00000450560:V600I;ENSP00000216605:V656I;ENSP00000451309:V580I	ENSP00000216605:V600I	V	+	1	0	MTHFD1	63976720	0.988000	0.35896	0.307000	0.25127	0.687000	0.40016	2.035000	0.41155	-0.333000	0.08476	-0.474000	0.04947	GTC		0.493	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1		
SPTB	6710	hgsc.bcm.edu	37	14	65252302	65252302	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr14:65252302G>A	ENST00000389721.5	-	17	3840	c.3808C>T	c.(3808-3810)Ctg>Ttg	p.L1270L	SPTB_ENST00000542895.1_Silent_p.L1270L|SPTB_ENST00000389722.3_Silent_p.L1270L|SPTB_ENST00000389720.3_Silent_p.L1270L|SPTB_ENST00000556626.1_Silent_p.L1270L	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1270					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.L1270L(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TTGTCTCTCAGTAGGACAGAG	0.542																																					p.L1270L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3808T	14						.						71.0	60.0	64.0					14																	65252302		2203	4300	6503	64322055	SO:0001819	synonymous_variant	6710	exon17				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.3808C>T	14.37:g.65252302G>A		Somatic		Capture	SOLID	Phase_I	64322055	NM_001024858	Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	CCDS32100.1																																																																																				0.542	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1		
GPHN	10243	hgsc.bcm.edu	37	14	67389434	67389434	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr14:67389434C>T	ENST00000315266.5	+	7	1629	c.508C>T	c.(508-510)Cgt>Tgt	p.R170C	GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000459628.1_Missense_Mutation_p.R152C|GPHN_ENST00000543237.1_Missense_Mutation_p.R183C|GPHN_ENST00000478722.1_Missense_Mutation_p.R170C|GPHN_ENST00000305960.9_Missense_Mutation_p.R139C	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	170	Interaction with GABARAP. {ECO:0000250}.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)	p.R170C(1)		large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		TGACCTTTTACGTGATGCCAT	0.423			T	MLL	AL																																p.R170C			Dom	yes		14	14q24	10243	gephyrin (GPH)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C508T	14						.						182.0	161.0	168.0					14																	67389434		2203	4300	6503	66459187	SO:0001583	missense	10243	exon7			AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.508C>T	14.37:g.67389434C>T	ENSP00000312771:p.Arg170Cys	Somatic		Capture	SOLID	Phase_I	66459187	NM_001024218	Q9H4E9|Q9P2G2	Missense_Mutation	SNP	ENST00000315266.5	37	CCDS32103.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.772615	0.69992	.	.	ENSG00000171723	ENST00000315266;ENST00000478722;ENST00000459628;ENST00000543237;ENST00000305960;ENST00000555456	.	.	.	5.02	4.13	0.48395	Molybdopterin binding (2);	0.000000	0.85682	D	0.000000	T	0.54447	0.1859	N	0.19112	0.55	0.58432	D	0.999999	D;D;D;D;P	0.89917	0.998;1.0;0.999;1.0;0.944	P;D;P;D;P	0.91635	0.736;0.999;0.729;0.997;0.529	T	0.57452	-0.7809	9	0.72032	D	0.01	-5.4608	8.3836	0.32486	0.1535:0.7677:0.0:0.0788	.	139;183;170;170;152	F8W7D6;F5H039;Q9NQX3;Q9NQX3-2;G3V582	.;.;GEPH_HUMAN;.;.	C	170;170;152;183;139;103	.	ENSP00000303019:R139C	R	+	1	0	GPHN	66459187	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.527000	0.60573	1.096000	0.41439	0.655000	0.94253	CGT		0.423	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806	
VTI1B	10490	hgsc.bcm.edu	37	14	68129194	68129194	+	Splice_Site	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr14:68129194C>T	ENST00000554659.1	-	2	515	c.174G>A	c.(172-174)acG>acA	p.T58T	RP11-1012A1.4_ENST00000554493.1_5'UTR|RP11-1012A1.4_ENST00000553306.1_3'UTR	NM_006370.2	NP_006361.1	Q9UEU0	VTI1B_HUMAN	vesicle transport through interaction with t-SNAREs 1B	58					cell proliferation (GO:0008283)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	SNARE binding (GO:0000149)	p.T58T(1)		endometrium(1)|large_intestine(2)|stomach(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		TTGTTCTCACCGTTTCATTTG	0.348																																					p.T58T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G174A	14						.						177.0	162.0	167.0					14																	68129194		2203	4299	6502	67198947	SO:0001630	splice_region_variant	10490	exon2			AF060902	CCDS9786.1	14q23.3	2012-12-10	2012-12-10		ENSG00000100568	ENSG00000100568			17793	protein-coding gene	gene with protein product		603207	"""vesicle transport through interaction with t-SNAREs homolog 1B (yeast)"""			9636656, 9446565	Standard	NM_006370		Approved	VTI2	uc001xjt.3	Q9UEU0	OTTHUMG00000171251	ENST00000554659.1:c.174+1G>A	14.37:g.68129194C>T		Somatic		Capture	SOLID	Phase_I	67198947	NM_006370	O43547|Q96J28	Silent	SNP	ENST00000554659.1	37	CCDS9786.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.079197	0.36662	.	.	ENSG00000258466	ENST00000557564	.	.	.	4.86	3.96	0.45880	.	.	.	.	.	T	0.70298	0.3208	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70385	-0.4886	4	.	.	.	.	15.1322	0.72533	0.0:0.8456:0.1544:0.0	.	.	.	.	H	72	.	.	R	-	2	0	RP11-1012A1.4	67198947	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	4.472000	0.60189	1.377000	0.46286	0.462000	0.41574	CGC		0.348	VTI1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412558.2		Silent
SPTLC2	9517	hgsc.bcm.edu	37	14	78043216	78043216	+	Silent	SNP	G	G	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr14:78043216G>T	ENST00000216484.2	-	4	718	c.525C>A	c.(523-525)tcC>tcA	p.S175S		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	175					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)	p.S175S(1)		kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)	GATAGTTGTAGGAACCCATGT	0.413																																					p.S175S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C525A	14						.						220.0	218.0	218.0					14																	78043216		2203	4300	6503	77112969	SO:0001819	synonymous_variant	9517	exon4			AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	2.3.1.50		11278	protein-coding gene	gene with protein product		605713				8921873, 9363775	Standard	NM_004863		Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.525C>A	14.37:g.78043216G>T		Somatic		Capture	SOLID	Phase_I	77112969	NM_004863	Q16685	Silent	SNP	ENST00000216484.2	37	CCDS9865.1	.	.	.	.	.	.	.	.	.	.	G	9.889	1.203598	0.22121	.	.	ENSG00000100596	ENST00000554901	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	T	0.76499	0.3996	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74604	-0.3610	4	.	.	.	-14.5394	19.6936	0.96012	0.0:0.0:1.0:0.0	.	.	.	.	I	112	.	.	L	-	1	2	SPTLC2	77112969	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.376000	0.34306	2.665000	0.90641	0.655000	0.94253	CTA		0.413	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414030.1	NM_004863	
FLRT2	23768	hgsc.bcm.edu	37	14	86089045	86089045	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr14:86089045C>T	ENST00000330753.4	+	2	1954	c.1187C>T	c.(1186-1188)aCg>aTg	p.T396M	FLRT2_ENST00000554746.1_Missense_Mutation_p.T396M	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	396					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.T396M(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AGAAGCTACACGCCTCCAACT	0.562																																					p.T396M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1187T	14						.						78.0	79.0	78.0					14																	86089045		2203	4300	6503	85158798	SO:0001583	missense	23768	exon2			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1187C>T	14.37:g.86089045C>T	ENSP00000332879:p.Thr396Met	Somatic		Capture	SOLID	Phase_I	85158798	NM_013231	A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	C	0.086	-1.175130	0.01646	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.59083	0.29;0.29	6.17	2.38	0.29361	.	0.412571	0.27691	N	0.018259	T	0.30324	0.0761	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.13980	-1.0489	10	0.48119	T	0.1	-0.6086	3.1069	0.06345	0.1112:0.5264:0.108:0.2544	.	396	O43155	FLRT2_HUMAN	M	396;396;49	ENSP00000332879:T396M;ENSP00000451050:T396M	ENSP00000332879:T396M	T	+	2	0	FLRT2	85158798	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.520000	0.06252	0.179000	0.19938	0.655000	0.94253	ACG		0.562	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1		
FLRT2	23768	hgsc.bcm.edu	37	14	86089249	86089249	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr14:86089249G>A	ENST00000330753.4	+	2	2158	c.1391G>A	c.(1390-1392)gGc>gAc	p.G464D	FLRT2_ENST00000554746.1_Missense_Mutation_p.G464D	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	464	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.G464D(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TTAGTAGGGGGCATCGTTCAG	0.493																																					p.G464D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1391A	14						.						111.0	99.0	103.0					14																	86089249		2203	4300	6503	85159002	SO:0001583	missense	23768	exon2			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1391G>A	14.37:g.86089249G>A	ENSP00000332879:p.Gly464Asp	Somatic		Capture	SOLID	Phase_I	85159002	NM_013231	A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.266015	0.59540	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.75938	-0.98;-0.98	6.17	6.17	0.99709	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.101366	0.64402	D	0.000002	T	0.72301	0.3443	L	0.46157	1.445	0.47949	D	0.999552	B	0.12630	0.006	B	0.12837	0.008	T	0.64257	-0.6450	10	0.46703	T	0.11	-20.1706	20.8794	0.99867	0.0:0.0:1.0:0.0	.	464	O43155	FLRT2_HUMAN	D	464;464;117	ENSP00000332879:G464D;ENSP00000451050:G464D	ENSP00000332879:G464D	G	+	2	0	FLRT2	85159002	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.221000	0.65272	2.941000	0.99782	0.655000	0.94253	GGC		0.493	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1		
FLRT2	23768	hgsc.bcm.edu	37	14	86089445	86089445	+	Silent	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr14:86089445T>C	ENST00000330753.4	+	2	2354	c.1587T>C	c.(1585-1587)caT>caC	p.H529H	FLRT2_ENST00000554746.1_Silent_p.H529H	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	529					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.H529H(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CGTCCAGCCATGAGCAGACGA	0.572																																					p.H529H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1587C	14						.						98.0	98.0	98.0					14																	86089445		2203	4300	6503	85159198	SO:0001819	synonymous_variant	23768	exon2			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1587T>C	14.37:g.86089445T>C		Somatic		Capture	SOLID	Phase_I	85159198	NM_013231	A0AV84|B7ZLP3	Silent	SNP	ENST00000330753.4	37	CCDS9877.1																																																																																				0.572	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1		
KCNK10	54207	hgsc.bcm.edu	37	14	88729604	88729604	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr14:88729604G>A	ENST00000340700.5	-	2	780	c.329C>T	c.(328-330)gCg>gTg	p.A110V	KCNK10_ENST00000312350.5_Missense_Mutation_p.A115V|KCNK10_ENST00000319231.5_Missense_Mutation_p.A115V	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	110					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.A110V(1)|p.A115V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CAGGAATTCCGCCTTCTCCAA	0.582																																					p.A115V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C344T	14						.						70.0	68.0	69.0					14																	88729604		2203	4300	6503	87799357	SO:0001583	missense	54207	exon2			AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.329C>T	14.37:g.88729604G>A	ENSP00000343104:p.Ala110Val	Somatic		Capture	SOLID	Phase_I	87799357	NM_138317	B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.921181	0.92249	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231;ENST00000556282	D;D;D;T	0.91351	-2.82;-2.83;-2.83;0.8	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.87334	0.6151	L	0.52573	1.65	0.80722	D	1	P;P;P	0.37731	0.607;0.454;0.475	B;B;B	0.32864	0.154;0.109;0.069	D	0.84395	0.0557	10	0.14252	T	0.57	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	110;115;115	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	V	110;115;115;98	ENSP00000343104:A110V;ENSP00000310568:A115V;ENSP00000312811:A115V;ENSP00000452587:A98V	ENSP00000310568:A115V	A	-	2	0	KCNK10	87799357	1.000000	0.71417	0.974000	0.42286	0.930000	0.56654	7.835000	0.86780	2.941000	0.99782	0.655000	0.94253	GCG		0.582	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161	
LGMN	5641	hgsc.bcm.edu	37	14	93180173	93180173	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr14:93180173G>A	ENST00000393218.2	-	8	875	c.538C>T	c.(538-540)Cga>Tga	p.R180*	LGMN_ENST00000334869.4_Nonsense_Mutation_p.R180*|LGMN_ENST00000557434.1_Nonsense_Mutation_p.R180*|LGMN_ENST00000555699.1_Nonsense_Mutation_p.R180*	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	180					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|innate immune response (GO:0045087)|negative regulation of ERBB signaling pathway (GO:1901185)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of neuron apoptotic process (GO:0043524)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|receptor catabolic process (GO:0032801)|renal system process (GO:0003014)|response to acidic pH (GO:0010447)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|toll-like receptor signaling pathway (GO:0002224)|vitamin D metabolic process (GO:0042359)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)	p.R180*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		ATTACCTTTCGGTACATTTTG	0.507																																					p.R180X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C538T	14						.						147.0	118.0	128.0					14																	93180173		2203	4300	6503	92249926	SO:0001587	stop_gained	5641	exon8			D55696	CCDS9904.1	14q32.12	2011-04-08		2002-01-18	ENSG00000100600	ENSG00000100600			9472	protein-coding gene	gene with protein product		602620	"""protease, cysteine, 1 (legumain)"""	PRSC1		8893817, 9065484	Standard	NM_001008530		Approved	LGMN1	uc001yaw.3	Q99538		ENST00000393218.2:c.538C>T	14.37:g.93180173G>A	ENSP00000376911:p.Arg180*	Somatic		Capture	SOLID	Phase_I	92249926	NM_001008530	O00123|Q86TV2|Q86TV3|Q9BTY1	Nonsense_Mutation	SNP	ENST00000393218.2	37	CCDS9904.1	.	.	.	.	.	.	.	.	.	.	G	37	6.266682	0.97426	.	.	ENSG00000100600	ENST00000555699;ENST00000334869;ENST00000557434;ENST00000334864;ENST00000262004;ENST00000393218;ENST00000539531;ENST00000535855	.	.	.	5.37	3.38	0.38709	.	0.517714	0.22644	N	0.057413	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-6.2691	9.9227	0.41474	0.0:0.1326:0.5984:0.269	.	.	.	.	X	180;180;180;180;180;180;157;145	.	ENSP00000262004:R180X	R	-	1	2	LGMN	92249926	0.989000	0.36119	0.973000	0.42090	0.633000	0.38033	1.707000	0.37888	1.364000	0.46038	0.650000	0.86243	CGA		0.507	LGMN-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412288.1	NM_005606	
IFI27L2	83982	hgsc.bcm.edu	37	14	94594875	94594875	+	Missense_Mutation	SNP	G	G	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr14:94594875G>T	ENST00000238609.3	-	3	274	c.175C>A	c.(175-177)Ctg>Atg	p.L59M	IFI27L2_ENST00000556727.1_Missense_Mutation_p.L34M	NM_032036.2	NP_114425.1	Q9H2X8	I27L2_HUMAN	interferon, alpha-inducible protein 27-like 2	59						integral component of membrane (GO:0016021)		p.L59M(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	8						GTAGCCACCAGGCTCCCCGCA	0.617																																					p.L59M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C175A	14						.						71.0	58.0	62.0					14																	94594875		2203	4300	6503	93664628	SO:0001583	missense	83982	exon3			AF208232	CCDS9920.1	14q32.13	2008-10-08	2008-10-08	2008-10-08		ENSG00000119632			19753	protein-coding gene	gene with protein product		611319	"""family with sequence similarity 14, member A"""	FAM14A			Standard	NM_032036		Approved	TLH29	uc001ycq.3	Q9H2X8		ENST00000238609.3:c.175C>A	14.37:g.94594875G>T	ENSP00000238609:p.Leu59Met	Somatic		Capture	SOLID	Phase_I	93664628	NM_032036	Q8TBD7|Q9NYL0	Missense_Mutation	SNP	ENST00000238609.3	37	CCDS9920.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714295	0.30413	.	.	ENSG00000119632	ENST00000238609;ENST00000556727	T;T	0.36878	1.23;1.23	3.84	-0.618	0.11576	.	0.942983	0.08739	U	0.900801	T	0.53867	0.1823	M	0.79475	2.455	0.23563	N	0.997402	D	0.56746	0.977	P	0.62014	0.897	T	0.45308	-0.9270	10	0.62326	D	0.03	.	7.6174	0.28167	0.1006:0.4843:0.4152:0.0	.	59	Q9H2X8	I27L2_HUMAN	M	59;34	ENSP00000238609:L59M;ENSP00000451717:L34M	ENSP00000238609:L59M	L	-	1	2	IFI27L2	93664628	0.000000	0.05858	0.638000	0.29380	0.075000	0.17131	-2.248000	0.01189	-0.242000	0.09667	0.558000	0.71614	CTG		0.617	IFI27L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412935.1	NM_032036	
SERPINA10	51156	hgsc.bcm.edu	37	14	94754653	94754653	+	Missense_Mutation	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr14:94754653A>G	ENST00000393096.1	-	3	1427	c.962T>C	c.(961-963)gTg>gCg	p.V321A	SERPINA10_ENST00000554173.1_Missense_Mutation_p.V321A|SERPINA10_ENST00000261994.4_Missense_Mutation_p.V321A|SERPINA10_ENST00000554723.1_Missense_Mutation_p.V361A	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	321					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.V321A(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CCATGTCTCCACCAAGTCTGT	0.493																																					p.V321A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T962C	14						.						183.0	161.0	168.0					14																	94754653		2203	4300	6503	93824406	SO:0001583	missense	51156	exon3			AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"""Serine (or cysteine) peptidase inhibitors"""	15996	protein-coding gene	gene with protein product		605271	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"""			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.962T>C	14.37:g.94754653A>G	ENSP00000376809:p.Val321Ala	Somatic		Capture	SOLID	Phase_I	93824406	NM_016186	A5Z2A5|Q6UWX9|Q86U20	Missense_Mutation	SNP	ENST00000393096.1	37	CCDS9923.1	.	.	.	.	.	.	.	.	.	.	A	19.44	3.828921	0.71258	.	.	ENSG00000140093	ENST00000554723;ENST00000393096;ENST00000261994;ENST00000554173	D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34	5.15	4.01	0.46588	Serpin domain (3);	0.110726	0.39909	N	0.001228	D	0.91908	0.7438	M	0.75777	2.31	0.39263	D	0.964243	D	0.71674	0.998	D	0.70227	0.968	D	0.92284	0.5836	10	0.87932	D	0	.	10.8114	0.46549	0.9251:0.0:0.0749:0.0	.	321	Q9UK55	ZPI_HUMAN	A	361;321;321;321	ENSP00000450896:V361A;ENSP00000376809:V321A;ENSP00000261994:V321A;ENSP00000450971:V321A	ENSP00000261994:V321A	V	-	2	0	SERPINA10	93824406	1.000000	0.71417	0.882000	0.34594	0.909000	0.53808	6.683000	0.74533	0.805000	0.34159	0.260000	0.18958	GTG		0.493	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1	NM_016186	
EML1	2009	hgsc.bcm.edu	37	14	100406438	100406438	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr14:100406438C>T	ENST00000262233.6	+	22	2576	c.2437C>T	c.(2437-2439)Cgc>Tgc	p.R813C	EML1_ENST00000334192.4_Missense_Mutation_p.R832C|EML1_ENST00000327921.9_Missense_Mutation_p.R801C	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	813	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.R832C(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CATGCAGTGGCGCGTCATTTA	0.532																																					p.R832C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2494T	14						.						94.0	68.0	77.0					14																	100406438		2203	4300	6503	99476191	SO:0001583	missense	2009	exon23			AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.2437C>T	14.37:g.100406438C>T	ENSP00000262233:p.Arg813Cys	Somatic		Capture	SOLID	Phase_I	99476191	NM_001008707	Q86U15|Q8N536|Q8N5C4|Q8WWL6	Missense_Mutation	SNP	ENST00000262233.6	37	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.008080	0.54361	.	.	ENSG00000066629	ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	T;T;T	0.18810	2.19;2.19;2.19	4.86	3.96	0.45880	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.53334	0.1790	M	0.89785	3.06	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.973;0.989	T	0.64744	-0.6335	10	0.87932	D	0	-20.0512	14.3823	0.66919	0.1493:0.8507:0.0:0.0	.	801;813;832	F8W717;O00423;O00423-3	.;EMAL1_HUMAN;.	C	801;813;832;832	ENSP00000327384:R801C;ENSP00000262233:R813C;ENSP00000334314:R832C	ENSP00000262233:R813C	R	+	1	0	EML1	99476191	1.000000	0.71417	0.999000	0.59377	0.332000	0.28634	3.066000	0.50002	1.016000	0.39470	-0.181000	0.13052	CGC		0.532	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707	
DYNC1H1	1778	hgsc.bcm.edu	37	14	102494376	102494376	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr14:102494376G>A	ENST00000360184.4	+	48	9530	c.9366G>A	c.(9364-9366)gtG>gtA	p.V3122V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3122	AAA 4. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.V3122V(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ATTACATCGTGCCTGATTACA	0.473																																					p.V3122V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G9366A	14						.						226.0	211.0	216.0					14																	102494376		2203	4300	6503	101564129	SO:0001819	synonymous_variant	1778	exon48			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.9366G>A	14.37:g.102494376G>A		Somatic		Capture	SOLID	Phase_I	101564129	NM_001376	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	CCDS9966.1																																																																																				0.473	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376	
BID	637	hgsc.bcm.edu	37	22	18222195	18222195	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr22:18222195C>T	ENST00000399774.3	-	4	452	c.283G>A	c.(283-285)Gac>Aac	p.D95N	BID_ENST00000399765.1_5'UTR|BID_ENST00000399767.1_5'UTR|BID_ENST00000317361.7_Missense_Mutation_p.D141N|BID_ENST00000551952.1_Missense_Mutation_p.D95N|BID_ENST00000342111.5_Silent_p.G126G|BID_ENST00000473439.1_5'UTR	NM_001196.3|NM_001244569.1	NP_001187.1|NP_001231498.1	P55957	BID_HUMAN	BH3 interacting domain death agonist	95					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|brain development (GO:0007420)|establishment of protein localization to membrane (GO:0090150)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glial cell apoptotic process (GO:0034349)|intrinsic apoptotic signaling pathway (GO:0097193)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of cell proliferation (GO:0042127)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|release of cytochrome c from mitochondria (GO:0001836)|response to estradiol (GO:0032355)|signal transduction in response to DNA damage (GO:0042770)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial membrane (GO:0032592)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	death receptor binding (GO:0005123)	p.D141N(1)		large_intestine(2)|ovary(1)	3		all_epithelial(15;0.198)		Lung(27;0.0419)		TCCATGCTGTCCCCGACCTGG	0.617																																					p.D95N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G283A	22						.						91.0	73.0	79.0					22																	18222195		2203	4300	6503	16602195	SO:0001583	missense	637	exon4			AF042083	CCDS13747.1, CCDS13748.1, CCDS13749.1	22q11.2	2014-03-07			ENSG00000015475	ENSG00000015475		"""Endogenous ligands"""	1050	protein-coding gene	gene with protein product		601997				8918887, 9721221	Standard	NM_001244567		Approved		uc002znc.2	P55957	OTTHUMG00000150087	ENST00000399774.3:c.283G>A	22.37:g.18222195C>T	ENSP00000382674:p.Asp95Asn	Somatic		Capture	SOLID	Phase_I	16602195	NM_001196	Q549M7|Q71T04|Q7Z4M9|Q8IY86	Missense_Mutation	SNP	ENST00000399774.3	37	CCDS13748.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.182216	0.57800	.	.	ENSG00000015475	ENST00000317361;ENST00000399774;ENST00000551952	T;T;T	0.40225	1.04;1.04;1.04	5.66	5.66	0.87406	Apoptosis regulator, Bcl-2, BH3 motif, conserved site (1);	0.142116	0.47455	D	0.000223	T	0.61337	0.2339	L	0.56199	1.76	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.97110	1.0;0.999	T	0.62358	-0.6871	10	0.87932	D	0	.	16.7121	0.85388	0.0:1.0:0.0:0.0	.	95;141	P55957;P55957-2	BID_HUMAN;.	N	141;95;95	ENSP00000318822:D141N;ENSP00000382674:D95N;ENSP00000449236:D95N	ENSP00000318822:D141N	D	-	1	0	BID	16602195	1.000000	0.71417	0.586000	0.28679	0.373000	0.29922	2.737000	0.47393	2.677000	0.91161	0.555000	0.69702	GAC		0.617	BID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316178.1	NM_197966	
DGCR14	8220	hgsc.bcm.edu	37	22	19124887	19124887	+	Silent	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr22:19124887A>G	ENST00000252137.6	-	8	1027	c.984T>C	c.(982-984)gtT>gtC	p.V328V		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	328					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)		p.V328V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					CCGACCCTTCAACTCTCAAGG	0.592																																					p.V328V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T984C	22						.						225.0	196.0	206.0					22																	19124887		2203	4300	6503	17504887	SO:0001819	synonymous_variant	8220	exon8			L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"""DiGeorge syndrome critical region gene 13"""	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.984T>C	22.37:g.19124887A>G		Somatic		Capture	SOLID	Phase_I	17504887	NM_022719	Q49AH7|Q9BTZ4	Silent	SNP	ENST00000252137.6	37	CCDS13756.1																																																																																				0.592	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316432.2		
PI4KA	5297	hgsc.bcm.edu	37	22	21152878	21152878	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr22:21152878C>T	ENST00000572273.1	-	17	2158	c.1928G>A	c.(1927-1929)gGc>gAc	p.G643D	PI4KA_ENST00000255882.6_Missense_Mutation_p.G701D			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	643					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.G643D(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TTACCTATAGCCGTGGTCCTT	0.393																																					p.G643D	GBM(136;1332 1831 3115 23601 50806)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1928A	22						.						211.0	185.0	194.0					22																	21152878		2203	4300	6503	19482878	SO:0001583	missense	5297	exon17			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.1928G>A	22.37:g.21152878C>T	ENSP00000458238:p.Gly643Asp	Somatic		Capture	SOLID	Phase_I	19482878	NM_058004	Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37		.	.	.	.	.	.	.	.	.	.	C	24.9	4.578111	0.86645	.	.	ENSG00000241973	ENST00000255882	.	.	.	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.62865	0.2463	L	0.38175	1.15	0.80722	D	1	D;P	0.55172	0.97;0.949	P;P	0.58820	0.846;0.635	T	0.56420	-0.7982	9	0.19590	T	0.45	-30.9954	17.9268	0.88986	0.0:1.0:0.0:0.0	.	701;643	D3DX33;P42356	.;PI4KA_HUMAN	D	643	.	ENSP00000255882:G643D	G	-	2	0	PI4KA	19482878	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	7.651000	0.83577	2.482000	0.83794	0.491000	0.48974	GGC		0.393	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004	
AIFM3	150209	hgsc.bcm.edu	37	22	21332229	21332229	+	Missense_Mutation	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr22:21332229T>C	ENST00000399167.2	+	16	1652	c.1412T>C	c.(1411-1413)tTc>tCc	p.F471S	AIFM3_ENST00000405089.1_Missense_Mutation_p.F477S|AIFM3_ENST00000440238.2_Missense_Mutation_p.F471S|AIFM3_ENST00000335375.5_Missense_Mutation_p.F459S|AIFM3_ENST00000333607.6_Missense_Mutation_p.F471S|AIFM3_ENST00000399163.2_Missense_Mutation_p.F471S|AIFM3_ENST00000465606.1_3'UTR	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	471					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)	p.F471S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GCTGTCACCTTCCCCCTTGCC	0.592																																					p.F477S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1430C	22						.						136.0	97.0	110.0					22																	21332229		2203	4300	6503	19662229	SO:0001583	missense	150209	exon16			AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.1412T>C	22.37:g.21332229T>C	ENSP00000382120:p.Phe471Ser	Somatic		Capture	SOLID	Phase_I	19662229	NM_001146288	B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Missense_Mutation	SNP	ENST00000399167.2	37	CCDS13786.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.109294	0.77096	.	.	ENSG00000183773	ENST00000399167;ENST00000399163;ENST00000405089;ENST00000335375;ENST00000440238;ENST00000333607	T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9	4.56	4.56	0.56223	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.63271	0.2497	M	0.78285	2.405	0.80722	D	1	D;P;P;P;P	0.89917	1.0;0.943;0.929;0.929;0.943	D;P;P;P;P	0.75484	0.986;0.823;0.729;0.729;0.823	T	0.67007	-0.5779	10	0.56958	D	0.05	-19.1951	12.1655	0.54127	0.0:0.0:0.0:1.0	.	459;459;477;471;471	B7Z9S7;B7Z376;Q96NN9-2;Q96NN9-3;Q96NN9	.;.;.;.;AIFM3_HUMAN	S	471;471;477;459;471;471	ENSP00000382120:F471S;ENSP00000382116:F471S;ENSP00000385800:F477S;ENSP00000335369:F459S;ENSP00000390798:F471S;ENSP00000327671:F471S	ENSP00000327671:F471S	F	+	2	0	AIFM3	19662229	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.686000	0.68211	1.822000	0.53115	0.460000	0.39030	TTC		0.592	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704	
LZTR1	8216	hgsc.bcm.edu	37	22	21350078	21350078	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr22:21350078G>A	ENST00000215739.8	+	17	2345	c.1986G>A	c.(1984-1986)gcG>gcA	p.A662A	LZTR1_ENST00000389355.3_Silent_p.A643A|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	662					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A662A(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGGAGGGAGCGGGCGCGGAAT	0.652																																					p.A662A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1986A	22						.						90.0	90.0	90.0					22																	21350078		2203	4300	6503	19680078	SO:0001819	synonymous_variant	8216	exon17			D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.1986G>A	22.37:g.21350078G>A		Somatic		Capture	SOLID	Phase_I	19680078	NM_006767	Q14776|Q20WK0	Silent	SNP	ENST00000215739.8	37	CCDS33606.1																																																																																				0.652	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767	
SPECC1L	23384	hgsc.bcm.edu	37	22	24718570	24718570	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr22:24718570G>A	ENST00000314328.9	+	5	1907	c.1622G>A	c.(1621-1623)aGt>aAt	p.S541N	SPECC1L_ENST00000416735.1_Intron|SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.S541N|SPECC1L_ENST00000541492.1_Missense_Mutation_p.S541N|SPECC1L_ENST00000437398.1_Missense_Mutation_p.S541N	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	541					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)		p.S541N(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						AAAGAACGCAGTCACCATATG	0.453																																					p.S541N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1622A	22						.						54.0	52.0	53.0					22																	24718570		2203	4300	6503	23048570	SO:0001583	missense	23384	exon4			AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"""cytokinesis and spindle organization A"", ""cytospin A"""	614140	"""SPECC1-like"""			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.1622G>A	22.37:g.24718570G>A	ENSP00000325785:p.Ser541Asn	Somatic		Capture	SOLID	Phase_I	23048570	NM_001145468	B7Z758|F5H1H6|O15081	Missense_Mutation	SNP	ENST00000314328.9	37	CCDS33619.1	.	.	.	.	.	.	.	.	.	.	G	1.957	-0.439824	0.04636	.	.	ENSG00000100014	ENST00000398280;ENST00000437398;ENST00000421374;ENST00000314328;ENST00000541492	T;T;T;T	0.56444	0.46;2.94;0.46;3.47	5.5	2.26	0.28386	.	0.121238	0.85682	N	0.000000	T	0.14313	0.0346	N	0.00138	-2.015	0.32243	N	0.572497	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.10941	-1.0608	10	0.44086	T	0.13	-13.9961	6.3214	0.21219	0.596:0.0:0.404:0.0	.	541;541	F5H1H6;Q69YQ0	.;CYTSA_HUMAN	N	569;541;541;541;541	ENSP00000393363:S541N;ENSP00000405671:S541N;ENSP00000325785:S541N;ENSP00000439633:S541N	ENSP00000325785:S541N	S	+	2	0	SPECC1L	23048570	1.000000	0.71417	0.958000	0.39756	0.997000	0.91878	5.143000	0.64826	0.179000	0.19938	0.655000	0.94253	AGT		0.453	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2	NM_015330	
CRYBB1	1414	hgsc.bcm.edu	37	22	27012199	27012199	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr22:27012199C>T	ENST00000215939.2	-	2	215	c.85G>A	c.(85-87)Gca>Aca	p.A29T		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	29	N-terminal arm.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)	p.A29T(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						GATGTTCCTGCAGGTGGGGCC	0.647																																					p.A29T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G85A	22						.						91.0	86.0	88.0					22																	27012199		2203	4300	6503	25342199	SO:0001583	missense	1414	exon2				CCDS13840.1	22q12.1	2008-06-10			ENSG00000100122	ENSG00000100122			2397	protein-coding gene	gene with protein product		600929				8575764, 12360425	Standard	NM_001887		Approved		uc003acy.1	P53674	OTTHUMG00000150980	ENST00000215939.2:c.85G>A	22.37:g.27012199C>T	ENSP00000215939:p.Ala29Thr	Somatic		Capture	SOLID	Phase_I	25342199	NM_001887		Missense_Mutation	SNP	ENST00000215939.2	37	CCDS13840.1	.	.	.	.	.	.	.	.	.	.	C	9.105	1.005034	0.19199	.	.	ENSG00000100122	ENST00000215939	T	0.75938	-0.98	4.13	-8.26	0.01021	.	2.172160	0.02193	N	0.061516	T	0.45558	0.1348	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44605	-0.9317	10	0.11182	T	0.66	.	1.0681	0.01616	0.2026:0.1351:0.3025:0.3599	.	29	P53674	CRBB1_HUMAN	T	29	ENSP00000215939:A29T	ENSP00000215939:A29T	A	-	1	0	CRYBB1	25342199	0.000000	0.05858	0.001000	0.08648	0.041000	0.13682	-1.915000	0.01578	-1.682000	0.01446	-0.332000	0.08345	GCA		0.647	CRYBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320767.1	NM_001887	
SLC35E4	339665	hgsc.bcm.edu	37	22	31042901	31042901	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr22:31042901C>T	ENST00000343605.4	+	2	1735	c.936C>T	c.(934-936)taC>taT	p.Y312Y	SLC35E4_ENST00000406566.1_Intron|SLC35E4_ENST00000300385.8_Intron	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	312	Leu-rich.					integral component of membrane (GO:0016021)		p.Y312Y(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						CCCTCAGCTACGTGGGCATCG	0.642																																					p.Y312Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C936T	22						.						97.0	78.0	84.0					22																	31042901		2203	4300	6503	29372901	SO:0001819	synonymous_variant	339665	exon2				CCDS13882.1	22q12.2	2013-05-22			ENSG00000100036	ENSG00000100036		"""Solute carriers"""	17058	protein-coding gene	gene with protein product							Standard	NM_001001479		Approved		uc003ais.1	Q6ICL7	OTTHUMG00000151110	ENST00000343605.4:c.936C>T	22.37:g.31042901C>T		Somatic		Capture	SOLID	Phase_I	29372901	NM_001001479	Q567P0	Silent	SNP	ENST00000343605.4	37	CCDS13882.1																																																																																				0.642	SLC35E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321382.1	XM_290973	
PISD	23761	hgsc.bcm.edu	37	22	32017782	32017782	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr22:32017782C>T	ENST00000439502.2	-	4	634	c.411G>A	c.(409-411)agG>agA	p.R137R	PISD_ENST00000382151.2_Silent_p.R103R|PISD_ENST00000266095.5_Silent_p.R103R|PISD_ENST00000336566.4_Silent_p.R137R|PISD_ENST00000478893.1_5'UTR|PISD_ENST00000397500.1_Silent_p.R103R			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	137					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatidylserine decarboxylase activity (GO:0004609)	p.R103R(1)		central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	TGTAGACGGGCCTGCGCAGCC	0.612																																					p.R103R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G309A	22						.						69.0	58.0	62.0					22																	32017782		2203	4300	6503	30347782	SO:0001819	synonymous_variant	23761	exon5				CCDS13899.1	22q12.2	2011-01-25			ENSG00000241878	ENSG00000241878	4.1.1.65		8999	protein-coding gene	gene with protein product		612770				10591208	Standard	NM_014338		Approved	dJ858B16.2, PSDC	uc003alk.2	Q9UG56	OTTHUMG00000030252	ENST00000439502.2:c.411G>A	22.37:g.32017782C>T		Somatic		Capture	SOLID	Phase_I	30347782	NM_014338	B1AKM7|O43207|O95535|Q6IC28|Q96GQ2|Q9UGA9	Silent	SNP	ENST00000439502.2	37		.	.	.	.	.	.	.	.	.	.	C	2.469	-0.322298	0.05350	.	.	ENSG00000241878	ENST00000435900	.	.	.	5.62	2.4	0.29515	.	.	.	.	.	T	0.52468	0.1736	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43180	-0.9407	4	.	.	.	-27.2322	5.5266	0.16960	0.0:0.6261:0.1474:0.2264	.	.	.	.	D	128	.	.	G	-	2	0	PISD	30347782	0.999000	0.42202	0.997000	0.53966	0.120000	0.20174	0.721000	0.25911	0.729000	0.32403	-0.302000	0.09304	GGC		0.612	PISD-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000075106.4		
MYH9	4627	hgsc.bcm.edu	37	22	36701983	36701983	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr22:36701983G>A	ENST00000216181.5	-	17	2382	c.2152C>T	c.(2152-2154)Cgg>Tgg	p.R718W		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	718	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.R718W(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CACCTCTGCCGAAACTCCTGG	0.667			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																												p.R718W			Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2152T	22	GRCh37	CM080444	MYH9	M		.						71.0	72.0	71.0					22																	36701983		2203	4300	6503	35031929	SO:0001583	missense	4627	exon17	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2152C>T	22.37:g.36701983G>A	ENSP00000216181:p.Arg718Trp	Somatic		Capture	SOLID	Phase_I	35031929	NM_002473	A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514223	0.85389	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	T	0.72282	-0.64	5.46	1.88	0.25563	Myosin head, motor domain (2);	0.052258	0.64402	D	0.000001	D	0.84906	0.5576	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87546	0.2462	10	0.87932	D	0	.	13.5433	0.61688	0.0:0.0:0.3612:0.6388	.	718	P35579	MYH9_HUMAN	W	582;718	ENSP00000216181:R718W	ENSP00000216181:R718W	R	-	1	2	MYH9	35031929	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.724000	0.61972	0.727000	0.32360	0.655000	0.94253	CGG		0.667	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473	
APOBEC3H	164668	hgsc.bcm.edu	37	22	39498029	39498029	+	Silent	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr22:39498029A>G	ENST00000401756.1	+	4	601	c.525A>G	c.(523-525)cgA>cgG	p.R175R	APOBEC3H_ENST00000421988.2_Intron|APOBEC3H_ENST00000348946.4_Silent_p.R175R|APOBEC3H_ENST00000442487.3_Silent_p.R175R	NM_001166003.1	NP_001159475.1	Q6NTF7	ABC3H_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H	175					cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral process (GO:0048525)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|zinc ion binding (GO:0008270)	p.R175R(1)		central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					CCATAAAGCGACGGCTTGAGA	0.557																																					p.R175R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A525G	22						.						57.0	48.0	51.0					22																	39498029		2203	4300	6503	37827975	SO:0001819	synonymous_variant	164668	exon4			BC069023	CCDS13985.1, CCDS54530.1, CCDS54531.1, CCDS54532.1	22q13.1	2007-02-01			ENSG00000100298	ENSG00000100298		"""Apolipoprotein B mRNA editing enzymes"""	24100	protein-coding gene	gene with protein product		610976				16571802	Standard	NM_001166003		Approved	ARP10	uc021wpt.1	Q6NTF7	OTTHUMG00000151082	ENST00000401756.1:c.525A>G	22.37:g.39498029A>G		Somatic		Capture	SOLID	Phase_I	37827975	NM_001166003	B0QYP0|B0QYP1|B7TQM5|E9PF38|Q5JYL9|Q6IC87	Silent	SNP	ENST00000401756.1	37	CCDS54530.1																																																																																				0.557	APOBEC3H-002	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000321230.1	NM_181773	
ADSL	158	hgsc.bcm.edu	37	22	40760969	40760969	+	Missense_Mutation	SNP	G	G	A	rs119450941		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr22:40760969G>A	ENST00000216194.7	+	12	1333	c.1277G>A	c.(1276-1278)cGt>cAt	p.R426H	ADSL_ENST00000342312.6_Intron|ADSL_ENST00000454266.2_Missense_Mutation_p.R440H	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	426			R -> H (in ADSL deficiency; severe. Most frequent mutation). {ECO:0000269|PubMed:10090474, ECO:0000269|PubMed:10888601, ECO:0000269|PubMed:12833398, ECO:0000269|PubMed:9266401}.		'de novo' AMP biosynthetic process (GO:0044208)|'de novo' IMP biosynthetic process (GO:0006189)|aerobic respiration (GO:0009060)|AMP biosynthetic process (GO:0006167)|metabolic process (GO:0008152)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity (GO:0070626)|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (GO:0004018)	p.R426H(2)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						CTCATAGAGCGTATCCAGGTT	0.498																																					p.R426H	Colon(4;65 130 1097 1516)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1277A	22	GRCh37	CM990123	ADSL	M	rs119450941	.						249.0	197.0	214.0					22																	40760969		2203	4300	6503	39090915	SO:0001583	missense	158	exon12			X65867	CCDS14001.1, CCDS46714.1	22q13.1	2011-02-17			ENSG00000239900	ENSG00000239900	4.3.2.2		291	protein-coding gene	gene with protein product		608222				8404037	Standard	NM_000026		Approved		uc003ayp.4	P30566	OTTHUMG00000166425	ENST00000216194.7:c.1277G>A	22.37:g.40760969G>A	ENSP00000216194:p.Arg426His	Somatic		Capture	SOLID	Phase_I	39090915	NM_000026	B0QY76|O75495|Q5TI34	Missense_Mutation	SNP	ENST00000216194.7	37	CCDS14001.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382612	0.82792	.	.	ENSG00000239900	ENST00000216194;ENST00000454266;ENST00000537028	D;D	0.95724	-3.79;-3.79	5.67	5.67	0.87782	Adenylosuccinate lyase C-terminal metazoa/fungi (1);L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.97213	0.9089	H	0.95539	3.685	0.80722	A	1	P;P;P	0.39940	0.696;0.455;0.455	B;B;B	0.40940	0.344;0.142;0.142	D	0.98104	1.0416	9	0.87932	D	0	-13.8045	19.7763	0.96395	0.0:0.0:1.0:0.0	.	440;426;426	E7ERF4;Q71UA4;P30566	.;.;PUR8_HUMAN	H	426;440;246	ENSP00000216194:R426H;ENSP00000390107:R440H	ENSP00000216194:R426H	R	+	2	0	ADSL	39090915	1.000000	0.71417	0.970000	0.41538	0.985000	0.73830	8.763000	0.91715	2.687000	0.91594	0.563000	0.77884	CGT		0.498	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321386.1	NM_000026	
SCUBE1	80274	hgsc.bcm.edu	37	22	43654321	43654321	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr22:43654321C>T	ENST00000360835.4	-	6	757	c.631G>A	c.(631-633)Gga>Aga	p.G211R	SCUBE1_ENST00000290460.7_Missense_Mutation_p.G211R	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	211					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)	p.G211R(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				TGGCAGCCTCCGTTTCCATAA	0.537																																					p.G211R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G631A	22						.						121.0	109.0	113.0					22																	43654321		2203	4300	6503	41984265	SO:0001583	missense	80274	exon6				CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.631G>A	22.37:g.43654321C>T	ENSP00000354080:p.Gly211Arg	Somatic		Capture	SOLID	Phase_I	41984265	NM_173050	Q5R336	Missense_Mutation	SNP	ENST00000360835.4	37	CCDS14048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.8|27.8	4.863849|4.863849	0.91511|0.91511	.|.	.|.	ENSG00000159307|ENSG00000159307	ENST00000360835;ENST00000434132;ENST00000290460|ENST00000449304	T;T|.	0.33865|.	1.39;1.39|.	4.66|4.66	4.66|4.66	0.58398|0.58398	Epidermal growth factor-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77089|0.77089	0.4079|0.4079	M|M	0.78285|0.78285	2.405|2.405	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|T	0.78393|0.78393	-0.2221|-0.2221	10|5	0.66056|.	D|.	0.02|.	.|.	17.7674|17.7674	0.88482|0.88482	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	211;211|.	B1AH90;Q8IWY4|.	.;SCUB1_HUMAN|.	R|Q	211|34	ENSP00000354080:G211R;ENSP00000290460:G211R|.	ENSP00000290460:G211R|.	G|R	-|-	1|2	0|0	SCUBE1|SCUBE1	41984265|41984265	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	7.475000|7.475000	0.81041|0.81041	2.431000|2.431000	0.82371|0.82371	0.655000|0.655000	0.94253|0.94253	GGA|CGG		0.537	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050	
KDELR3	11015	hgsc.bcm.edu	37	22	38881952	38881954	+	IGR	DEL	AGG	AGG	-			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	AGG	AGG	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr22:38881952_38881954delAGG	ENST00000216014.4	+	0	1728				DDX17_ENST00000444597.1_In_Frame_Del_p.P178del|DDX17_ENST00000381633.3_In_Frame_Del_p.P649del|DDX17_ENST00000396821.3_In_Frame_Del_p.P728del	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein retention in ER lumen (GO:0006621)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ER retention sequence binding (GO:0046923)	p.P726delP(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					ATTTACGTGAaggaggaggaggg	0.463																																					p.728_728del	Ovarian(11;103 529 24120 28493 32980)											.	.	1	Deletion - In frame(1)	large_intestine(1)	c.2182_2184del	22						.																																			37211900	SO:0001628	intergenic_variant	10521	exon13			AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520		22.37:g.38881961_38881963delAGG		Somatic		Capture	SOLID	Phase_I	37211898	NM_001098504	A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	In_Frame_Del	DEL	ENST00000216014.4	37	CCDS13972.1																																																																																				0.463	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331474.1		
TBC1D22A	25771	hgsc.bcm.edu	37	22	47569223	47569223	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr22:47569223G>A	ENST00000337137.4	+	13	1674	c.1508G>A	c.(1507-1509)cGc>cAc	p.R503H	TBC1D22A_ENST00000406733.1_Missense_Mutation_p.R456H|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.R425H|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.R444H	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	503							protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)	p.R503H(1)		breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GAGGCCTACCGCCTCAAGTTT	0.627																																					p.R503H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1508A	22						.						96.0	97.0	97.0					22																	47569223		2203	4300	6503	45947887	SO:0001583	missense	25771	exon13			AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.1508G>A	22.37:g.47569223G>A	ENSP00000336724:p.Arg503His	Somatic		Capture	SOLID	Phase_I	45947887	NM_014346	B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Missense_Mutation	SNP	ENST00000337137.4	37	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.812466	0.90707	.	.	ENSG00000054611	ENST00000337137;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.21	4.19	0.49359	Rab-GAP/TBC domain (1);	0.000000	0.85682	D	0.000000	T	0.42832	0.1220	M	0.82630	2.6	0.80722	D	1	P;D;D;P	0.89917	0.867;1.0;1.0;0.867	B;D;D;B	0.72338	0.239;0.977;0.949;0.239	T	0.36065	-0.9763	10	0.13853	T	0.58	.	10.7874	0.46413	0.0921:0.0:0.9079:0.0	.	503;425;444;503	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	H	503;444;425;456	ENSP00000336724:R503H;ENSP00000384036:R444H;ENSP00000347932:R425H;ENSP00000385634:R456H	ENSP00000336724:R503H	R	+	2	0	TBC1D22A	45947887	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.522000	0.73783	2.419000	0.82065	0.655000	0.94253	CGC		0.627	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346	
PODNL1	79883	hgsc.bcm.edu	37	19	14047235	14047235	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr19:14047235G>A	ENST00000339560.5	-	3	558	c.285C>T	c.(283-285)tcC>tcT	p.S95S	PODNL1_ENST00000538517.2_Silent_p.S93S|PODNL1_ENST00000254320.3_Missense_Mutation_p.P35L|PODNL1_ENST00000538371.2_Silent_p.S93S	NM_024825.3	NP_079101.3	Q6PEZ8	PONL1_HUMAN	podocan-like 1	95	Leu-rich.					proteinaceous extracellular matrix (GO:0005578)		p.S95S(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			CACTGAGGCGGGACAGCTCAT	0.612																																					p.S95S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C285T	19						.						202.0	185.0	191.0					19																	14047235		2203	4300	6503	13908235	SO:0001819	synonymous_variant	79883	exon3			AK027100	CCDS12300.1, CCDS54225.1, CCDS54226.1	19p13.12	2008-02-05							26275	protein-coding gene	gene with protein product						12477932	Standard	NM_024825		Approved	FLJ23447, SLRR5B	uc010xnj.2	Q6PEZ8		ENST00000339560.5:c.285C>T	19.37:g.14047235G>A		Somatic		Capture	SOLID	Phase_I	13908235	NM_024825	B7Z564|Q9H5G9	Silent	SNP	ENST00000339560.5	37	CCDS12300.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987374	0.53934	.	.	ENSG00000132000	ENST00000545071;ENST00000254320	T	0.48522	0.81	4.64	-9.28	0.00656	.	.	.	.	.	T	0.36524	0.0970	.	.	.	0.80722	D	1	P	0.46706	0.883	P	0.45428	0.48	T	0.61088	-0.7133	8	0.87932	D	0	.	3.993	0.09545	0.1409:0.1532:0.5668:0.139	.	35	B7Z3M0	.	L	35	ENSP00000254320:P35L	ENSP00000254320:P35L	P	-	2	0	PODNL1	13908235	0.001000	0.12720	0.452000	0.26994	0.913000	0.54294	-3.565000	0.00429	-2.714000	0.00392	-0.530000	0.04314	CCC		0.612	PODNL1-003	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457967.1	NM_024825	
EMR2	30817	hgsc.bcm.edu	37	19	14854578	14854578	+	Silent	SNP	C	C	T	rs200359297	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr19:14854578C>T	ENST00000315576.3	-	19	2653	c.2202G>A	c.(2200-2202)gcG>gcA	p.A734A	EMR2_ENST00000392967.2_Silent_p.A723A|EMR2_ENST00000392965.3_Silent_p.A676A|EMR2_ENST00000594076.1_Silent_p.A641A|EMR2_ENST00000595839.1_Silent_p.A592A|EMR2_ENST00000601345.1_Silent_p.A723A|EMR2_ENST00000392964.3_3'UTR|EMR2_ENST00000353876.1_Silent_p.A641A|EMR2_ENST00000594294.1_Silent_p.A685A|EMR2_ENST00000596991.2_Silent_p.A723A|EMR2_ENST00000346057.1_Silent_p.A685A|EMR2_ENST00000353005.1_Silent_p.A592A	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	734					cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)	p.A734A(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GCTGAGCTGTCGCTTTAAATG	0.547													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18832	0.0		0.0	False		,,,				2504	0.0				p.A674A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2022A	19						.	C	,,,,,,	0,4406		0,0,2203	89.0	82.0	85.0		2202,2055,1923,1776,2169,2022,1890	-9.5	0.0	19		85	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	EMR2	NM_013447.2,NM_152916.1,NM_152917.1,NM_152918.1,NM_152919.1,NM_152920.1,NM_152921.1	,,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,,	734/824,685/775,641/731,592/682,723/813,674/764,630/720	14854578	1,13005	2203	4300	6503	14715578	SO:0001819	synonymous_variant	30817	exon18			AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.2202G>A	19.37:g.14854578C>T		Somatic		Capture	SOLID	Phase_I	14715578	NM_152920	B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Silent	SNP	ENST00000315576.3	37	CCDS32935.1																																																																																				0.547	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2		
AP1M1	8907	hgsc.bcm.edu	37	19	16344357	16344357	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr19:16344357C>T	ENST00000291439.3	+	10	1550	c.1101C>T	c.(1099-1101)gcC>gcT	p.A367A	AP1M1_ENST00000541844.1_Silent_p.A295A|AP1M1_ENST00000429941.2_Silent_p.A314A|AP1M1_ENST00000444449.2_Silent_p.A379A|AP1M1_ENST00000590756.1_Silent_p.A295A	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	367	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)		p.A367A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						GTGTGGAGGCCGAAGACAAGG	0.672																																					p.A379A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1137T	19						.						56.0	50.0	52.0					19																	16344357		2202	4299	6501	16205357	SO:0001819	synonymous_variant	8907	exon11				CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.1101C>T	19.37:g.16344357C>T		Somatic		Capture	SOLID	Phase_I	16205357	NM_001130524	Q4TTY5	Silent	SNP	ENST00000291439.3	37	CCDS12342.1																																																																																				0.672	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460492.1	NM_032493	
NWD1	284434	hgsc.bcm.edu	37	19	16860978	16860978	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr19:16860978G>A	ENST00000552788.1	+	4	1525	c.1525G>A	c.(1525-1527)Gca>Aca	p.A509T	NWD1_ENST00000549814.1_Missense_Mutation_p.A509T|NWD1_ENST00000523826.1_Missense_Mutation_p.A303T|NWD1_ENST00000339803.6_Missense_Mutation_p.A374T|NWD1_ENST00000379808.3_Missense_Mutation_p.A509T|NWD1_ENST00000524140.2_Missense_Mutation_p.A509T			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	509	NACHT.						ATP binding (GO:0005524)	p.A374T(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACTCCTGCTGGCAGCTGCAAG	0.632																																					p.A509T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1525A	19						.						42.0	42.0	42.0					19																	16860978		2203	4299	6502	16721978	SO:0001583	missense	284434	exon6			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.1525G>A	19.37:g.16860978G>A	ENSP00000447224:p.Ala509Thr	Somatic		Capture	SOLID	Phase_I	16721978	NM_001007525	C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37		.	.	.	.	.	.	.	.	.	.	g	11.00	1.510147	0.27036	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	5.17	4.12	0.48240	.	0.655217	0.15378	N	0.265468	T	0.80237	0.4586	M	0.69823	2.125	0.28858	N	0.895698	B;B;B	0.25351	0.124;0.101;0.124	B;B;B	0.33121	0.158;0.098;0.158	T	0.70088	-0.4968	10	0.21014	T	0.42	-7.6353	12.8146	0.57658	0.0:0.0:0.8349:0.1651	.	509;509;374	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	T	374;509;509;509;303;509;374	ENSP00000428579:A509T;ENSP00000447548:A509T;ENSP00000369136:A509T;ENSP00000428955:A303T;ENSP00000447224:A509T;ENSP00000340159:A374T	ENSP00000340159:A374T	A	+	1	0	NWD1	16721978	0.902000	0.30710	0.827000	0.32855	0.028000	0.11728	1.283000	0.33237	1.155000	0.42497	0.643000	0.83706	GCA		0.632	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525	
SLC7A9	11136	hgsc.bcm.edu	37	19	33334799	33334799	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr19:33334799C>T	ENST00000023064.4	-	10	1227	c.1036G>A	c.(1036-1038)Gtc>Atc	p.V346I	SLC7A9_ENST00000587772.1_Missense_Mutation_p.V346I|SLC7A9_ENST00000590341.1_Missense_Mutation_p.V346I	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	346					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)	p.V346I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	AGGCGCCTGACGCTGATGTAA	0.557																																					p.V346I	GBM(181;1335 2108 9644 44178 46689)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1036A	19						.						68.0	60.0	63.0					19																	33334799		2203	4300	6503	38026639	SO:0001583	missense	11136	exon10			AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.1036G>A	19.37:g.33334799C>T	ENSP00000023064:p.Val346Ile	Somatic		Capture	SOLID	Phase_I	38026639	NM_001126335	B2R9A6	Missense_Mutation	SNP	ENST00000023064.4	37	CCDS12425.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.826937	0.50739	.	.	ENSG00000021488	ENST00000023064	D	0.89343	-2.5	5.37	5.37	0.77165	Amino acid permease domain (1);	0.060355	0.64402	D	0.000004	T	0.82190	0.4983	L	0.35542	1.07	0.58432	D	0.999994	B;B	0.24368	0.102;0.058	B;B	0.18263	0.021;0.021	T	0.77138	-0.2698	10	0.23302	T	0.38	.	13.0928	0.59174	0.0:0.9219:0.0:0.0781	.	346;346	Q53FY4;P82251	.;BAT1_HUMAN	I	346	ENSP00000023064:V346I	ENSP00000023064:V346I	V	-	1	0	SLC7A9	38026639	0.942000	0.31987	0.923000	0.36655	0.936000	0.57629	1.638000	0.37165	2.519000	0.84933	0.655000	0.94253	GTC		0.557	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1		
RHPN2	85415	hgsc.bcm.edu	37	19	33502691	33502691	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr19:33502691G>A	ENST00000254260.3	-	6	522	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	RHPN2_ENST00000400226.4_Missense_Mutation_p.R12W	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	163	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)		p.R163W(1)		NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GCCTCATCCCGGCTAGGCGTC	0.587																																					p.R163W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C487T	19						.						52.0	42.0	46.0					19																	33502691		2203	4300	6503	38194531	SO:0001583	missense	85415	exon6			AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.487C>T	19.37:g.33502691G>A	ENSP00000254260:p.Arg163Trp	Somatic		Capture	SOLID	Phase_I	38194531	NM_033103	B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	37	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908757	0.52439	.	.	ENSG00000131941	ENST00000254260;ENST00000400226	T;T	0.20069	2.1;2.1	4.89	-0.29	0.12847	BRO1 domain (3);	0.000000	0.85682	D	0.000000	T	0.44095	0.1277	M	0.92738	3.34	0.58432	D	0.999999	D	0.59357	0.985	P	0.51701	0.677	T	0.67780	-0.5582	10	0.87932	D	0	-2.6711	15.9086	0.79450	0.0:0.0:0.274:0.726	.	163	Q8IUC4	RHPN2_HUMAN	W	163;12	ENSP00000254260:R163W;ENSP00000402244:R12W	ENSP00000254260:R163W	R	-	1	2	RHPN2	38194531	1.000000	0.71417	0.998000	0.56505	0.423000	0.31445	1.230000	0.32612	0.080000	0.16959	-0.538000	0.04264	CGG		0.587	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103	
ZNF565	147929	hgsc.bcm.edu	37	19	36674042	36674042	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr19:36674042C>T	ENST00000355114.5	-	5	1672	c.946G>A	c.(946-948)Gag>Aag	p.E316K	ZNF565_ENST00000304116.5_Missense_Mutation_p.E276K|ZNF565_ENST00000392173.2_Missense_Mutation_p.E276K			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	316					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E276K(1)		large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			TAGGGTTTCTCGCCTGTGTGA	0.478																																					p.E276K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G826A	19						.						86.0	79.0	82.0					19																	36674042		2203	4300	6503	41365882	SO:0001583	missense	147929	exon5			AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"""Zinc fingers, C2H2-type"", ""-"""	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.946G>A	19.37:g.36674042C>T	ENSP00000347234:p.Glu316Lys	Somatic		Capture	SOLID	Phase_I	41365882	NM_152477	B3KQ35|Q6NUS2	Missense_Mutation	SNP	ENST00000355114.5	37		.	.	.	.	.	.	.	.	.	.	c	17.41	3.381723	0.61845	.	.	ENSG00000196357	ENST00000392173;ENST00000304116;ENST00000355114	T;T;T	0.24350	1.86;1.86;1.86	4.36	4.36	0.52297	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40554	N	0.001067	T	0.33030	0.0849	L	0.50847	1.595	0.41878	D	0.990304	D	0.61080	0.989	P	0.49477	0.612	T	0.17107	-1.0380	10	0.72032	D	0.01	.	14.8205	0.70068	0.0:1.0:0.0:0.0	.	276	Q8N9K5	ZN565_HUMAN	K	276;276;316	ENSP00000376013:E276K;ENSP00000306869:E276K;ENSP00000347234:E316K	ENSP00000306869:E276K	E	-	1	0	ZNF565	41365882	0.976000	0.34144	0.998000	0.56505	0.051000	0.14879	2.912000	0.48782	2.437000	0.82529	0.585000	0.79938	GAG		0.478	ZNF565-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000451697.1	NM_152477	
FSD1	79187	hgsc.bcm.edu	37	19	4323165	4323165	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr19:4323165G>A	ENST00000221856.6	+	11	1369	c.1222G>A	c.(1222-1224)Gcc>Acc	p.A408T	STAP2_ENST00000597593.1_5'Flank|FSD1_ENST00000597590.1_Intron	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	408	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.A408T(2)		breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCAAGCACGCCAACAAGGT	0.657																																					p.A408T												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G1222A	19						.						62.0	62.0	62.0					19																	4323165		2203	4300	6503	4274165	SO:0001583	missense	79187	exon11			AF316829	CCDS12127.1	19p13.3	2013-02-11	2005-03-01			ENSG00000105255		"""Fibronectin type III domain containing"""	13745	protein-coding gene	gene with protein product		609828	"""fibronectin type 3 and SPRY domain containing 1"""			11267680	Standard	NM_024333		Approved	MGC3213, MIR1	uc002lzy.2	Q9BTV5		ENST00000221856.6:c.1222G>A	19.37:g.4323165G>A	ENSP00000221856:p.Ala408Thr	Somatic		Capture	SOLID	Phase_I	4274165	NM_024333	B2RDT0|Q9BXN0|Q9HAG4	Missense_Mutation	SNP	ENST00000221856.6	37	CCDS12127.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292414	0.59976	.	.	ENSG00000105255	ENST00000221856	T	0.59906	0.23	4.38	1.87	0.25490	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.326316	0.29362	N	0.012363	T	0.30696	0.0773	N	0.16833	0.445	0.28059	N	0.933033	B	0.32829	0.386	B	0.29862	0.108	T	0.07139	-1.0788	10	0.30854	T	0.27	.	1.8351	0.03138	0.2822:0.0:0.4233:0.2945	.	408	Q9BTV5	FSD1_HUMAN	T	408	ENSP00000221856:A408T	ENSP00000221856:A408T	A	+	1	0	FSD1	4274165	0.999000	0.42202	0.998000	0.56505	0.975000	0.68041	2.577000	0.46042	0.777000	0.33496	0.485000	0.47835	GCC		0.657	FSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458091.1	NM_024333	
ZNF569	148266	hgsc.bcm.edu	37	19	37905213	37905213	+	Missense_Mutation	SNP	T	T	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr19:37905213T>G	ENST00000316950.6	-	6	904	c.347A>C	c.(346-348)cAa>cCa	p.Q116P	ZNF569_ENST00000592490.1_3'UTR|ZNF569_ENST00000392149.2_Missense_Mutation_p.Q116P|ZNF569_ENST00000392150.2_5'UTR	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	116					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q116P(1)		breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAATTTCTTTTGACATTCATT	0.348																																					p.Q116P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A347C	19						.						79.0	77.0	78.0					19																	37905213		2203	4298	6501	42597053	SO:0001583	missense	148266	exon6			AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.347A>C	19.37:g.37905213T>G	ENSP00000325018:p.Gln116Pro	Somatic		Capture	SOLID	Phase_I	42597053	NM_152484	A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	ENST00000316950.6	37	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	T	0.341	-0.950425	0.02285	.	.	ENSG00000196437	ENST00000316950	T	0.07567	3.18	3.02	0.677	0.17964	.	.	.	.	.	T	0.03651	0.0104	N	0.03608	-0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.46133	-0.9213	9	0.23891	T	0.37	.	9.7902	0.40702	0.0:0.0:0.5191:0.4809	.	116	Q5MCW4	ZN569_HUMAN	P	116	ENSP00000325018:Q116P	ENSP00000325018:Q116P	Q	-	2	0	ZNF569	42597053	0.000000	0.05858	0.081000	0.20488	0.893000	0.52053	-1.012000	0.03649	0.081000	0.16988	0.482000	0.46254	CAA		0.348	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484	
RYR1	6261	hgsc.bcm.edu	37	19	38957020	38957020	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr19:38957020C>T	ENST00000359596.3	+	24	3160	c.3160C>T	c.(3160-3162)Cct>Tct	p.P1054S	RYR1_ENST00000360985.3_Missense_Mutation_p.P1054S|RYR1_ENST00000355481.4_Missense_Mutation_p.P1054S			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1054	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.P1054S(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CAACATCGAGCCTCCTGACCA	0.662																																					p.P1054S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3160T	19						.						19.0	18.0	19.0					19																	38957020		2166	4250	6416	43648860	SO:0001583	missense	6261	exon24			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3160C>T	19.37:g.38957020C>T	ENSP00000352608:p.Pro1054Ser	Somatic		Capture	SOLID	Phase_I	43648860	NM_001042723	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	c	7.865	0.726928	0.15439	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.91068	-2.78;-2.78;-2.78	2.94	2.94	0.34122	B30.2/SPRY domain (1);Ryanodine receptor Ryr (1);	0.000000	0.64402	U	0.000002	D	0.93468	0.7916	M	0.66378	2.025	0.46654	D	0.999144	D;D	0.76494	0.999;0.973	D;D	0.68943	0.961;0.932	D	0.92378	0.5911	10	0.33141	T	0.24	.	14.7726	0.69691	0.0:1.0:0.0:0.0	.	1054;1054	P21817-2;P21817	.;RYR1_HUMAN	S	1054	ENSP00000352608:P1054S;ENSP00000347667:P1054S;ENSP00000354254:P1054S	ENSP00000347667:P1054S	P	+	1	0	RYR1	43648860	1.000000	0.71417	0.981000	0.43875	0.504000	0.33889	2.448000	0.44926	1.988000	0.58038	0.444000	0.29173	CCT		0.662	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
CAPN12	147968	hgsc.bcm.edu	37	19	39233108	39233108	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr19:39233108C>T	ENST00000328867.4	-	3	676	c.368G>A	c.(367-369)cGg>cAg	p.R123Q	CTD-2540F13.2_ENST00000602255.1_RNA|CAPN12_ENST00000601953.1_5'UTR	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	123	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.R123Q(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			AGGGACCACCCGGCGCAGGAG	0.612																																					p.R123Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G368A	19						.						55.0	49.0	51.0					19																	39233108		2203	4300	6503	43924948	SO:0001583	missense	147968	exon3			BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"""EF-hand domain containing"""	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.368G>A	19.37:g.39233108C>T	ENSP00000331636:p.Arg123Gln	Somatic		Capture	SOLID	Phase_I	43924948	NM_144691		Missense_Mutation	SNP	ENST00000328867.4	37	CCDS12519.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.329456	0.41197	.	.	ENSG00000182472	ENST00000328867	D	0.88818	-2.43	4.38	3.34	0.38264	Peptidase C2, calpain, catalytic domain (3);	0.136525	0.47093	N	0.000251	D	0.86698	0.5995	L	0.58969	1.84	0.38578	D	0.950124	D	0.63880	0.993	P	0.48089	0.566	D	0.84906	0.0845	10	0.36615	T	0.2	.	7.1157	0.25414	0.0:0.7958:0.0:0.2042	.	123	Q6ZSI9	CAN12_HUMAN	Q	123	ENSP00000331636:R123Q	ENSP00000331636:R123Q	R	-	2	0	CAPN12	43924948	0.572000	0.26668	0.072000	0.20136	0.028000	0.11728	3.632000	0.54287	1.189000	0.43028	0.462000	0.41574	CGG		0.612	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1		
SERTAD3	29946	hgsc.bcm.edu	37	19	40947885	40947885	+	Missense_Mutation	SNP	G	G	A	rs370807148		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr19:40947885G>A	ENST00000322354.3	-	2	599	c.103C>T	c.(103-105)Cgc>Tgc	p.R35C	SERTAD3_ENST00000392028.4_Missense_Mutation_p.R35C|SERTAD3_ENST00000601217.1_5'Flank|CTC-492K19.4_ENST00000599050.1_RNA	NM_203344.2	NP_976219.1	Q9UJW9	SRTD3_HUMAN	SERTA domain containing 3	35	SERTA. {ECO:0000255|PROSITE- ProRule:PRU00396}.				negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.R35C(1)		kidney(1)|large_intestine(4)|lung(2)	7			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGGAGATGCGGAGCAGGGCT	0.612																																					p.R35C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C103T	19						.	G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	37.0	31.0	33.0		103,103	1.3	0.7	19		33	0,8600		0,0,4300	no	missense,missense	SERTAD3	NM_013368.3,NM_203344.2	180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	35/197,35/197	40947885	1,13005	2203	4300	6503	45639725	SO:0001583	missense	29946	exon2			AF192529	CCDS12558.1	19q13.2	2008-02-05				ENSG00000167565			17931	protein-coding gene	gene with protein product	"""RPA-binding trans-activator"""	612125				10982866, 11331592	Standard	NM_013368		Approved	RBT1	uc002onv.4	Q9UJW9		ENST00000322354.3:c.103C>T	19.37:g.40947885G>A	ENSP00000325414:p.Arg35Cys	Somatic		Capture	SOLID	Phase_I	45639725	NM_203344	B3KQB3|Q96CQ2	Missense_Mutation	SNP	ENST00000322354.3	37	CCDS12558.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.914962	0.33815	2.27E-4	0.0	ENSG00000167565	ENST00000322354;ENST00000392028	.	.	.	4.73	1.28	0.21552	.	0.602011	0.15208	N	0.274654	T	0.16342	0.0393	N	0.08118	0	0.22096	N	0.999361	B	0.15719	0.014	B	0.12837	0.008	T	0.15492	-1.0435	9	0.59425	D	0.04	10.8777	4.2458	0.10670	0.1964:0.0:0.6221:0.1815	.	35	Q9UJW9	SRTD3_HUMAN	C	35	.	ENSP00000325414:R35C	R	-	1	0	SERTAD3	45639725	0.068000	0.21057	0.663000	0.29738	0.985000	0.73830	1.074000	0.30703	0.586000	0.29626	0.655000	0.94253	CGC		0.612	SERTAD3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462573.1	NM_013368	
RAB4B	53916	hgsc.bcm.edu	37	19	41292755	41292755	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr19:41292755G>A	ENST00000594800.1	+	7	689	c.529G>A	c.(529-531)Gag>Aag	p.E177K	RAB4B-EGLN2_ENST00000594136.1_Missense_Mutation_p.E177K|RAB4B_ENST00000357052.2_Missense_Mutation_p.E177K|RAB4B-EGLN2_ENST00000601949.1_3'UTR			P61018	RAB4B_HUMAN	RAB4B, member RAS oncogene family	177					glucose import (GO:0046323)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	insulin-responsive compartment (GO:0032593)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	GTP binding (GO:0005525)	p.E212K(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	11			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCCCACAGGCGAGCTAGACCC	0.692																																					p.E177K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G529A	19						.						58.0	56.0	57.0					19																	41292755		2203	4300	6503	45984595	SO:0001583	missense	53916	exon7			AF165522	CCDS33030.1	19q13.2	2012-10-15			ENSG00000167578	ENSG00000167578		"""RAB, member RAS oncogene"""	9782	protein-coding gene	gene with protein product	"""ras-related GTP-binding protein 4b"", ""small GTP binding protein RAB4B"""	612945					Standard	NM_016154		Approved	FLJ78649, MGC52123	uc002opd.2	P61018		ENST00000594800.1:c.529G>A	19.37:g.41292755G>A	ENSP00000470246:p.Glu177Lys	Somatic		Capture	SOLID	Phase_I	45984595	NM_016154	P22750|Q7Z514|Q9HBR6	Missense_Mutation	SNP	ENST00000594800.1	37	CCDS33030.1	.	.	.	.	.	.	.	.	.	.	-	12.35	1.911247	0.33721	.	.	ENSG00000167578	ENST00000357052	T	0.80033	-1.33	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.67767	0.2928	L	0.29908	0.895	0.80722	D	1	B;B	0.28208	0.203;0.128	B;B	0.20955	0.032;0.005	T	0.64664	-0.6354	10	0.07644	T	0.81	.	16.4241	0.83808	0.0:0.0:1.0:0.0	.	212;177	P61018-2;P61018	.;RAB4B_HUMAN	K	177	ENSP00000349560:E177K	ENSP00000349560:E177K	E	+	1	0	RAB4B	45984595	1.000000	0.71417	0.998000	0.56505	0.201000	0.24016	9.433000	0.97501	2.404000	0.81709	0.502000	0.49764	GAG		0.692	RAB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463168.1	NM_016154	
CD79A	973	hgsc.bcm.edu	37	19	42383299	42383299	+	Missense_Mutation	SNP	C	C	T	rs371599562		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr19:42383299C>T	ENST00000221972.3	+	2	504	c.319C>T	c.(319-321)Cgg>Tgg	p.R107W	CD79A_ENST00000444740.2_Intron	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN	CD79a molecule, immunoglobulin-associated alpha	107	Ig-like C2-type.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)	B cell receptor complex (GO:0019815)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.R107W(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						ATACGTGTGCCGGGTCCAGGA	0.647			"""O, S"""		DLBCL																																p.R107W			Dom	yes		19	19q13.2	973	"""CD79a molecule, immunoglobulin-associated alpha"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C319T	19						.	C	TRP/ARG,	1,4405	2.1+/-5.4	0,1,2202	68.0	61.0	63.0		319,	-3.5	0.0	19		63	0,8600		0,0,4300	no	missense,intron	CD79A	NM_001783.3,NM_021601.3	101,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,	107/227,	42383299	1,13005	2203	4300	6503	47075139	SO:0001583	missense	973	exon2			M80462	CCDS12589.1, CCDS46088.1	19q13.2	2014-09-17	2006-03-28					"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1698	protein-coding gene	gene with protein product		112205	"""CD79A antigen (immunoglobulin-associated alpha)"""	IGA		1538135	Standard	NM_001783		Approved	MB-1	uc002orv.3	P11912		ENST00000221972.3:c.319C>T	19.37:g.42383299C>T	ENSP00000221972:p.Arg107Trp	Somatic		Capture	SOLID	Phase_I	47075139	NM_001783	A0N775|Q53FB8	Missense_Mutation	SNP	ENST00000221972.3	37	CCDS12589.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325740	0.60743	2.27E-4	0.0	ENSG00000105369	ENST00000221972	T	0.66638	-0.22	5.06	-3.48	0.04739	Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.535120	0.03912	N	0.282039	T	0.65101	0.2659	L	0.34521	1.04	0.09310	N	1	D	0.76494	0.999	P	0.57846	0.828	T	0.58306	-0.7659	10	0.72032	D	0.01	-0.8828	4.2771	0.10815	0.5214:0.2716:0.1276:0.0793	.	107	P11912	CD79A_HUMAN	W	107	ENSP00000221972:R107W	ENSP00000221972:R107W	R	+	1	2	CD79A	47075139	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.681000	0.05191	-0.459000	0.07013	0.650000	0.86243	CGG		0.647	CD79A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463058.1		
ATP1A3	478	hgsc.bcm.edu	37	19	42482426	42482426	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr19:42482426G>A	ENST00000302102.5	-	13	1833	c.1683C>T	c.(1681-1683)ttC>ttT	p.F561F	ATP1A3_ENST00000545399.1_Silent_p.F574F|ATP1A3_ENST00000602133.1_Silent_p.F531F|ATP1A3_ENST00000543770.1_Silent_p.F572F	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	561					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.F561F(2)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CATCACAGTCGAAGGCAAAGC	0.607																																					p.F561F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1683T	19						.						75.0	72.0	73.0					19																	42482426		2203	4300	6503	47174266	SO:0001819	synonymous_variant	478	exon13				CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.1683C>T	19.37:g.42482426G>A		Somatic		Capture	SOLID	Phase_I	47174266	NM_152296	B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Silent	SNP	ENST00000302102.5	37	CCDS12594.1																																																																																				0.607	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296	
CEACAM8	1088	hgsc.bcm.edu	37	19	43092954	43092954	+	Silent	SNP	T	T	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr19:43092954T>G	ENST00000244336.5	-	4	1041	c.940A>C	c.(940-942)Agg>Cgg	p.R314R	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|CEACAM8_ENST00000599005.1_Intron	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	314	Ig-like C2-type 2.				immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.R314R(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				GTGATCATCCTGACTGTGGTC	0.483																																					p.R314R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A940C	19						.						190.0	176.0	181.0					19																	43092954		2203	4300	6503	47784794	SO:0001819	synonymous_variant	1088	exon4			D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.940A>C	19.37:g.43092954T>G		Somatic		Capture	SOLID	Phase_I	47784794	NM_001816	O60399|Q16574	Silent	SNP	ENST00000244336.5	37	CCDS12610.1																																																																																				0.483	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321430.1		
PSG4	5672	hgsc.bcm.edu	37	19	43702322	43702322	+	Missense_Mutation	SNP	T	T	A	rs146130390	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr19:43702322T>A	ENST00000405312.3	-	3	773	c.536A>T	c.(535-537)cAg>cTg	p.Q179L	PSG4_ENST00000244295.9_Missense_Mutation_p.Q179L|PSG4_ENST00000433626.2_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	179	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)		p.Q179L(2)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CATCCACCACTGGTAGCTTGC	0.512													A|||	8	0.00159744	0.0061	0.0	5008	,	,		15020	0.0		0.0	False		,,,				2504	0.0				p.Q179L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A536T	19						.	A	LEU/GLN,LEU/GLN	14,4252		2,10,2121	172.0	198.0	189.0		536,536	0.8	0.1	19	dbSNP_134	189	0,8544		0,0,4272	no	missense,missense	PSG4	NM_002780.3,NM_213633.1	113,113	2,10,6393	AA,AT,TT		0.0,0.3282,0.1093	,	179/420,179/327	43702322	14,12796	2133	4272	6405	48394162	SO:0001583	missense	5672	exon3				CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.536A>T	19.37:g.43702322T>A	ENSP00000384770:p.Gln179Leu	Somatic		Capture	SOLID	Phase_I	48394162	NM_002780	E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	ENST00000405312.3	37	CCDS46093.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	a	0.008	-1.881224	0.00532	0.003282	0.0	ENSG00000243137	ENST00000244295;ENST00000405312;ENST00000451895	T;T;T	0.14516	2.5;2.5;2.5	2.07	0.796	0.18648	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.02807	0.0084	N	0.00991	-1.07	0.19300	N	0.999972	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.42732	-0.9434	9	0.02654	T	1	.	2.5133	0.04662	0.4492:0.2782:0.0:0.2726	.	195;179;179	C9JWP2;Q00888-2;Q00888	.;.;PSG4_HUMAN	L	179;179;195	ENSP00000244295:Q179L;ENSP00000384770:Q179L;ENSP00000388134:Q195L	ENSP00000244295:Q179L	Q	-	2	0	PSG4	48394162	0.000000	0.05858	0.129000	0.21949	0.010000	0.07245	-2.528000	0.00945	0.083000	0.17047	-0.944000	0.02675	CAG		0.512	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633	
ZNF45	7596	hgsc.bcm.edu	37	19	44417683	44417683	+	Silent	SNP	G	G	A	rs142569864	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr19:44417683G>A	ENST00000269973.5	-	10	2995	c.1905C>T	c.(1903-1905)acC>acT	p.T635T	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Silent_p.T635T	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	635					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T635T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						GTTTTTCTCCGGTGTGAACTC	0.483													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19841	0.0		0.0	False		,,,				2504	0.0				p.T635T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1905T	19						.	G		0,4406		0,0,2203	128.0	113.0	118.0		1905	-7.2	0.9	19	dbSNP_134	118	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	ZNF45	NM_003425.3		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		635/683	44417683	4,13002	2203	4300	6503	49109523	SO:0001819	synonymous_variant	7596	exon10			M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"""Zinc fingers, C2H2-type"", ""-"""	13111	protein-coding gene	gene with protein product		194554	"""zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)"", ""zinc finger protein 13"""	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.1905C>T	19.37:g.44417683G>A		Somatic		Capture	SOLID	Phase_I	49109523	NM_003425	P17016|P78472|Q9P1U9	Silent	SNP	ENST00000269973.5	37	CCDS12632.1																																																																																				0.483	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1	NM_003425	
ERCC1	2067	hgsc.bcm.edu	37	19	45924592	45924592	+	Silent	SNP	C	C	T	rs536136013		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr19:45924592C>T	ENST00000300853.3	-	3	756	c.165G>A	c.(163-165)gcG>gcA	p.A55A	ERCC1_ENST00000340192.7_Silent_p.A55A|ERCC1_ENST00000013807.5_Silent_p.A55A|ERCC1_ENST00000589165.1_Silent_p.A55A|ERCC1_ENST00000591636.1_Silent_p.A55A|ERCC1_ENST00000423698.2_Intron	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementation group 1	55					cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|male gonad development (GO:0008584)|mitotic recombination (GO:0006312)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|oogenesis (GO:0048477)|post-embryonic hemopoiesis (GO:0035166)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|replicative cell aging (GO:0001302)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to sucrose (GO:0009744)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)|syncytium formation (GO:0006949)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	cytoplasm (GO:0005737)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|single-stranded DNA binding (GO:0003697)	p.A55A(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		TCTGAGGGGCCGCCTGGGCCG	0.642								Nucleotide excision repair (NER)																													p.A55A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G165A	19						.						75.0	73.0	74.0					19																	45924592		2203	4300	6503	50616432	SO:0001819	synonymous_variant	2067	exon3				CCDS12662.1, CCDS12663.1, CCDS54279.1	19q13.32	2014-03-07	2014-03-07			ENSG00000012061			3433	protein-coding gene	gene with protein product		126380	"""excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)"""			6462228	Standard	NM_001983		Approved	RAD10	uc002pbs.2	P07992		ENST00000300853.3:c.165G>A	19.37:g.45924592C>T		Somatic		Capture	SOLID	Phase_I	50616432	NM_001983	B2RC01|B3KRR0|Q7Z7F5|Q96S40	Silent	SNP	ENST00000300853.3	37	CCDS12662.1																																																																																				0.642	ERCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459542.1	NM_001983	
SLC1A5	6510	hgsc.bcm.edu	37	19	47285694	47285694	+	Missense_Mutation	SNP	C	C	T	rs200463627		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr19:47285694C>T	ENST00000542575.2	-	4	1398	c.770G>A	c.(769-771)cGc>cAc	p.R257H	SLC1A5_ENST00000594991.1_Missense_Mutation_p.R81H|SLC1A5_ENST00000412532.2_Missense_Mutation_p.R29H|SLC1A5_ENST00000434726.2_Missense_Mutation_p.R55H	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	257					amino acid transport (GO:0006865)|extracellular amino acid transport (GO:0006860)|glutamine transport (GO:0006868)|ion transport (GO:0006811)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-glutamine transmembrane transporter activity (GO:0015186)|L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)|receptor activity (GO:0004872)|sodium:dicarboxylate symporter activity (GO:0017153)|virus receptor activity (GO:0001618)	p.R257H(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	GTTGAAGAAGCGGATAAGCAG	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		12789	0.001		0.0	False		,,,				2504	0.0				p.R55H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G164A	19						.						129.0	116.0	120.0					19																	47285694		2203	4300	6503	51977534	SO:0001583	missense	6510	exon3			U53347	CCDS12692.1, CCDS46125.1, CCDS46126.1	19q13.32	2013-07-15			ENSG00000105281	ENSG00000105281		"""Solute carriers"""	10943	protein-coding gene	gene with protein product		109190		RDRC, M7V1		8702519, 10051606	Standard	NM_005628		Approved	AAAT, ASCT2	uc002pfs.3	Q15758	OTTHUMG00000183434	ENST00000542575.2:c.770G>A	19.37:g.47285694C>T	ENSP00000444408:p.Arg257His	Somatic		Capture	SOLID	Phase_I	51977534	NM_001145145	A8K9H5|B4DR77|B4DWS4|B7ZB81|D0EYG6|E9PC01|O95720|Q96RL9|Q9BWQ3|Q9UNP2	Missense_Mutation	SNP	ENST00000542575.2	37	CCDS12692.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.34	1.610563	0.28712	.	.	ENSG00000105281	ENST00000542575;ENST00000434726;ENST00000412532;ENST00000306894	T;T;T	0.59638	0.25;0.25;0.25	5.17	-0.846	0.10734	.	0.828815	0.11284	N	0.580050	T	0.54319	0.1851	M	0.70842	2.15	0.09310	N	1	B;B;B	0.22800	0.075;0.075;0.075	B;B;B	0.24848	0.056;0.056;0.056	T	0.52253	-0.8600	10	0.54805	T	0.06	-2.3786	9.4638	0.38800	0.0:0.5098:0.0:0.4902	.	55;257;257	E9PC01;Q15758;Q71UA6	.;AAAT_HUMAN;.	H	257;55;29;264	ENSP00000444408:R257H;ENSP00000406532:R55H;ENSP00000397924:R29H	ENSP00000303623:R264H	R	-	2	0	SLC1A5	51977534	0.010000	0.17322	0.104000	0.21259	0.633000	0.38033	0.235000	0.17948	-0.275000	0.09219	-0.272000	0.10252	CGC		0.597	SLC1A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466630.1		
RASIP1	54922	hgsc.bcm.edu	37	19	49224131	49224131	+	Missense_Mutation	SNP	C	C	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr19:49224131C>A	ENST00000222145.4	-	12	3020	c.2816G>T	c.(2815-2817)cGc>cTc	p.R939L	MAMSTR_ENST00000419611.1_5'Flank|MAMSTR_ENST00000377367.3_5'Flank|MAMSTR_ENST00000318083.6_5'Flank	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	939					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)		p.R939L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CCAGAGGAGGCGGCGGAGCCT	0.657																																					p.R939L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2816T	19						.						65.0	66.0	66.0					19																	49224131		2203	4300	6503	53915943	SO:0001583	missense	54922	exon12			BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.2816G>T	19.37:g.49224131C>A	ENSP00000222145:p.Arg939Leu	Somatic		Capture	SOLID	Phase_I	53915943	NM_017805	Q6U676	Missense_Mutation	SNP	ENST00000222145.4	37	CCDS12731.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378720	0.61735	.	.	ENSG00000105538	ENST00000222145	T	0.23754	1.89	5.5	3.37	0.38596	.	0.121737	0.52532	D	0.000062	T	0.20007	0.0481	L	0.36672	1.1	0.39751	D	0.971882	B	0.28055	0.199	B	0.28465	0.09	T	0.05903	-1.0857	10	0.39692	T	0.17	-14.052	10.6082	0.45406	0.0:0.8406:0.0:0.1594	.	939	Q5U651	RAIN_HUMAN	L	939	ENSP00000222145:R939L	ENSP00000222145:R939L	R	-	2	0	RASIP1	53915943	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	0.789000	0.26886	0.817000	0.34445	-0.137000	0.14449	CGC		0.657	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466185.1	NM_017805	
NUCB1	4924	hgsc.bcm.edu	37	19	49416349	49416349	+	Missense_Mutation	SNP	C	C	T	rs143826495		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr19:49416349C>T	ENST00000405315.4	+	6	896	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	NUCB1_ENST00000407032.1_Missense_Mutation_p.R188W|NUCB1_ENST00000263273.5_Missense_Mutation_p.R188W|NUCB1_ENST00000485798.1_Intron|NUCB1-AS1_ENST00000416432.1_RNA	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	188						endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)	p.R188W(1)		cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		ACACGAGAGACGGCGTTATCT	0.592																																					p.R188W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C562T	19						.	C	TRP/ARG	0,4406		0,0,2203	135.0	117.0	123.0		562	3.8	0.6	19	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	missense	NUCB1	NM_006184.5	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	188/462	49416349	1,13005	2203	4300	6503	54108161	SO:0001583	missense	4924	exon6			BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"""EF-hand domain containing"""	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.562C>T	19.37:g.49416349C>T	ENSP00000385923:p.Arg188Trp	Somatic		Capture	SOLID	Phase_I	54108161	NM_006184	B2RD64|Q15838|Q7Z4J7|Q9BUR1	Missense_Mutation	SNP	ENST00000405315.4	37	CCDS12740.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.314065	0.60414	0.0	1.16E-4	ENSG00000104805	ENST00000405315;ENST00000407032;ENST00000452087;ENST00000263273	T;T;T	0.20738	2.05;2.05;2.05	4.89	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.48660	0.1512	M	0.86178	2.8	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.55933	-0.8062	10	0.87932	D	0	.	12.2392	0.54532	0.1778:0.8222:0.0:0.0	.	188;188	Q02818;Q53GX6	NUCB1_HUMAN;.	W	188	ENSP00000385923:R188W;ENSP00000385211:R188W;ENSP00000263273:R188W	ENSP00000263273:R188W	R	+	1	2	NUCB1	54108161	0.974000	0.33945	0.567000	0.28434	0.563000	0.35712	1.529000	0.35996	1.150000	0.42419	0.543000	0.68304	CGG		0.592	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326545.2	NM_006184	
FUT3	2525	hgsc.bcm.edu	37	19	5844477	5844477	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr19:5844477G>A	ENST00000303225.6	-	3	1008	c.374C>T	c.(373-375)cCg>cTg	p.P125L	AC024592.9_ENST00000589276.1_RNA|FUT3_ENST00000589620.1_Missense_Mutation_p.P125L|FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000458379.2_Missense_Mutation_p.P125L|FUT3_ENST00000589918.1_Missense_Mutation_p.P125L	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	125					cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)	p.P125L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CTGCGGCCTCGGGGAAGGTGG	0.592																																					p.P125L	Esophageal Squamous(82;745 1728 24593 44831)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C374T	19						.						107.0	90.0	96.0					19																	5844477		2203	4300	6503	5795477	SO:0001583	missense	2525	exon3				CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"""CD molecules"", ""Blood group antigens"", ""Fucosyltransferases"""	4014	protein-coding gene	gene with protein product		111100	"""fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"""	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.374C>T	19.37:g.5844477G>A	ENSP00000305603:p.Pro125Leu	Somatic		Capture	SOLID	Phase_I	5795477	NM_001097640	B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Missense_Mutation	SNP	ENST00000303225.6	37	CCDS12153.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.515531	0.44763	.	.	ENSG00000171124	ENST00000303225;ENST00000458379	T;T	0.25085	1.82;1.82	2.24	2.24	0.28232	.	0.101182	0.42682	N	0.000675	T	0.32376	0.0827	L	0.56124	1.755	0.09310	N	0.999997	P;B;B;B	0.50819	0.939;0.012;0.028;0.012	P;B;B;B	0.52823	0.71;0.041;0.041;0.041	T	0.07385	-1.0775	10	0.33141	T	0.24	.	10.5317	0.44981	0.0:0.0:1.0:0.0	.	125;125;125;125	B3W6H0;A8K737;B3GVC1;P21217	.;.;.;FUT3_HUMAN	L	125	ENSP00000305603:P125L;ENSP00000416443:P125L	ENSP00000305603:P125L	P	-	2	0	FUT3	5795477	0.004000	0.15560	0.088000	0.20740	0.204000	0.24138	0.606000	0.24194	1.169000	0.42739	0.205000	0.17691	CCG		0.592	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452204.1	NM_000149	
ZNF473	25888	hgsc.bcm.edu	37	19	50548611	50548611	+	Missense_Mutation	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr19:50548611A>G	ENST00000595661.1	+	6	1406	c.911A>G	c.(910-912)gAc>gGc	p.D304G	ZNF473_ENST00000270617.3_Missense_Mutation_p.D304G|ZNF473_ENST00000445728.3_Missense_Mutation_p.D292G|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000391821.2_Missense_Mutation_p.D304G|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000601364.1_Intron			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	304					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D304G(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		CCCAGTCATGACACACAGCCT	0.468																																					p.D304G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A911G	19						.						92.0	93.0	93.0					19																	50548611		2203	4300	6503	55240423	SO:0001583	missense	25888	exon5			AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.911A>G	19.37:g.50548611A>G	ENSP00000472808:p.Asp304Gly	Somatic		Capture	SOLID	Phase_I	55240423	NM_001006656	A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	SNP	ENST00000595661.1	37	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	A	5.314	0.243375	0.10077	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.08282	3.13;3.13;3.11	4.06	-3.5	0.04710	.	1.818780	0.03135	N	0.165724	T	0.03263	0.0095	N	0.04355	-0.22	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36456	-0.9747	10	0.21540	T	0.41	0.0546	1.9022	0.03270	0.4951:0.1437:0.2153:0.1458	.	304	Q8WTR7	ZN473_HUMAN	G	304;304;292	ENSP00000270617:D304G;ENSP00000375697:D304G;ENSP00000388961:D292G	ENSP00000270617:D304G	D	+	2	0	ZNF473	55240423	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.184000	0.09698	-0.553000	0.06158	-0.908000	0.02827	GAC		0.468	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390	
ACSBG2	81616	hgsc.bcm.edu	37	19	6183071	6183071	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr19:6183071C>T	ENST00000586696.1	+	10	1386	c.1110C>T	c.(1108-1110)agC>agT	p.S370S	ACSBG2_ENST00000588485.1_Silent_p.S183S|ACSBG2_ENST00000588304.1_Silent_p.S320S|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000591403.1_Silent_p.S370S|ACSBG2_ENST00000252669.5_Silent_p.S370S			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	370					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)	p.S370S(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTCCCGTGAGCTACCGCATGG	0.517																																					p.S370S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1110T	19						.						98.0	92.0	94.0					19																	6183071		2203	4300	6503	6134071	SO:0001819	synonymous_variant	81616	exon10				CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"""Acyl-CoA synthetase family"""	24174	protein-coding gene	gene with protein product	"""bubblegum related protein"""	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.1110C>T	19.37:g.6183071C>T		Somatic		Capture	SOLID	Phase_I	6134071	NM_030924	B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Silent	SNP	ENST00000586696.1	37	CCDS12159.1																																																																																				0.517	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452898.1	NM_030924	
BRSK1	84446	hgsc.bcm.edu	37	19	55816954	55816954	+	Splice_Site	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr19:55816954G>A	ENST00000309383.1	+	16	2167	c.1890G>A	c.(1888-1890)tcG>tcA	p.S630S	BRSK1_ENST00000326848.7_Splice_Site_p.S325S|BRSK1_ENST00000590333.1_Splice_Site_p.S646S	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	630					axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.S630S(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CCTTTCTGTCGGTGAGGGGCC	0.557																																					p.S630S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1890A	19						.						144.0	150.0	148.0					19																	55816954		2203	4300	6503	60508766	SO:0001630	splice_region_variant	84446	exon16			AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.1890+1G>A	19.37:g.55816954G>A		Somatic		Capture	SOLID	Phase_I	60508766	NM_032430	F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Silent	SNP	ENST00000309383.1	37	CCDS12921.1																																																																																				0.557	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430	Silent
ZNF416	55659	hgsc.bcm.edu	37	19	58089461	58089461	+	Silent	SNP	G	G	A	rs75440348	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr19:58089461G>A	ENST00000196489.3	-	2	261	c.39C>T	c.(37-39)ccC>ccT	p.P13P		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	13					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P13P(1)		breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		CTGCAGTCACGGGAACCTGCG	0.552													G|||	42	0.00838658	0.0318	0.0	5008	,	,		20077	0.0		0.0	False		,,,				2504	0.0				p.P13P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C39T	19						.	G		114,4292	87.3+/-125.9	1,112,2090	117.0	101.0	106.0		39	0.8	0.0	19	dbSNP_132	106	7,8593	5.0+/-18.6	0,7,4293	no	coding-synonymous	ZNF416	NM_017879.1		1,119,6383	AA,AG,GG		0.0814,2.5874,0.9303		13/595	58089461	121,12885	2203	4300	6503	62781273	SO:0001819	synonymous_variant	55659	exon2			BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"""Zinc fingers, C2H2-type"", ""-"""	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.39C>T	19.37:g.58089461G>A		Somatic		Capture	SOLID	Phase_I	62781273	NM_017879	Q9NWW8	Silent	SNP	ENST00000196489.3	37	CCDS12954.1																																																																																				0.552	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879	
ZNF551	90233	hgsc.bcm.edu	37	19	58197995	58197995	+	Missense_Mutation	SNP	C	C	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr19:58197995C>A	ENST00000282296.5	+	3	537	c.352C>A	c.(352-354)Cct>Act	p.P118T	ZNF551_ENST00000596085.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000599402.1_3'UTR|AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.P102T			Q7Z340	ZN551_HUMAN	zinc finger protein 551	118					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGACATTTTGCCTGCGGCTGA	0.483																																					p.P102T												.	.	0			c.C304A	19						.						129.0	125.0	127.0					19																	58197995		2203	4300	6503	62889807	SO:0001583	missense	90233	exon3			BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.352C>A	19.37:g.58197995C>A	ENSP00000282296:p.Pro118Thr	Somatic		Capture	SOLID	Phase_I	62889807	NM_138347	B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	ENST00000282296.5	37	CCDS12959.2	.	.	.	.	.	.	.	.	.	.	C	6.492	0.459033	0.12342	.	.	ENSG00000204519	ENST00000356715;ENST00000282296	.	.	.	1.96	-1.48	0.08745	.	.	.	.	.	T	0.16385	0.0394	N	0.12182	0.205	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.32079	-0.9920	8	0.15066	T	0.55	.	6.3582	0.21412	0.0:0.585:0.0:0.415	.	118	Q7Z340	ZN551_HUMAN	T	118;102	.	ENSP00000282296:P102T	P	+	1	0	ZNF551	62889807	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.470000	0.06639	-0.321000	0.08627	-1.056000	0.02311	CCT		0.483	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347	
SLC25A23	79085	hgsc.bcm.edu	37	19	6444238	6444238	+	Silent	SNP	G	G	A	rs371170317		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr19:6444238G>A	ENST00000301454.4	-	9	1252	c.1146C>T	c.(1144-1146)tgC>tgT	p.C382C	SLC25A23_ENST00000334510.5_Silent_p.C382C|SLC25A23_ENST00000601760.1_5'UTR|SLC25A23_ENST00000414491.2_Silent_p.C143C	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	382					adenine nucleotide transport (GO:0051503)|cellular response to calcium ion (GO:0071277)|regulation of cellular respiration (GO:0043457)|regulation of oxidative phosphorylation (GO:0002082)|regulation of sequestering of calcium ion (GO:0051282)|transmembrane transport (GO:0055085)|urea homeostasis (GO:0097274)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)	p.C382C(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						ATATGGTACCGCAGGCCAGGA	0.642																																					p.C382C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1146T	19						.	G		0,4406		0,0,2203	42.0	39.0	40.0		1146	-5.5	1.0	19		40	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	SLC25A23	NM_024103.2		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		382/469	6444238	1,13001	2203	4298	6501	6395238	SO:0001819	synonymous_variant	79085	exon9			AJ619962	CCDS32882.1	19p13.1	2014-02-06			ENSG00000125648	ENSG00000125648		"""Solute carriers"", ""EF-hand domain containing"""	19375	protein-coding gene	gene with protein product		608746				15123600	Standard	NM_024103		Approved	FLJ30339, MGC2615, APC2	uc002mex.1	Q9BV35	OTTHUMG00000180852	ENST00000301454.4:c.1146C>T	19.37:g.6444238G>A		Somatic		Capture	SOLID	Phase_I	6395238	NM_024103	B4DGB6|Q4LBC2|Q705K3|Q86Y43|Q8N2N4|Q96NQ4	Silent	SNP	ENST00000301454.4	37	CCDS32882.1																																																																																				0.642	SLC25A23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453325.1	NM_024103	
FBN3	84467	hgsc.bcm.edu	37	19	8153043	8153043	+	Missense_Mutation	SNP	C	C	T	rs138232748	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr19:8153043C>T	ENST00000600128.1	-	52	6811	c.6397G>A	c.(6397-6399)Ggc>Agc	p.G2133S	FBN3_ENST00000270509.2_Missense_Mutation_p.G2133S|FBN3_ENST00000601739.1_Missense_Mutation_p.G2133S			Q75N90	FBN3_HUMAN	fibrillin 3	2133	EGF-like 34; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.G2133S(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CAGGGGTGGCCGACAGAGCAC	0.612													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20255	0.001		0.0	False		,,,				2504	0.0				p.G2133S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6397A	19						.	C	SER/GLY	0,4406		0,0,2203	99.0	83.0	89.0		6397	3.0	0.0	19	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	yes	missense	FBN3	NM_032447.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	2133/2810	8153043	1,13005	2203	4300	6503	8059043	SO:0001583	missense	84467	exon51				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.6397G>A	19.37:g.8153043C>T	ENSP00000470498:p.Gly2133Ser	Somatic		Capture	SOLID	Phase_I	8059043	NM_032447	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	CCDS12196.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	C	16.36	3.100602	0.56183	0.0	1.16E-4	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.92911	-3.13	4.03	2.98	0.34508	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.061014	0.64402	U	0.000004	D	0.90000	0.6878	N	0.11698	0.16	0.54753	D	0.999982	D	0.89917	1.0	D	0.87578	0.998	D	0.87153	0.2210	10	0.32370	T	0.25	.	9.92	0.41459	0.0:0.8242:0.0:0.1758	.	2133	Q75N90	FBN3_HUMAN	S	2133;239	ENSP00000270509:G2133S	ENSP00000270509:G2133S	G	-	1	0	FBN3	8059043	0.999000	0.42202	0.022000	0.16811	0.424000	0.31475	4.435000	0.59941	0.800000	0.34041	0.313000	0.20887	GGC		0.612	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447	
ADAMTS10	81794	hgsc.bcm.edu	37	19	8657734	8657734	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr19:8657734C>T	ENST00000597188.1	-	13	1770	c.1500G>A	c.(1498-1500)tgG>tgA	p.W500*	ADAMTS10_ENST00000270328.4_Nonsense_Mutation_p.W500*|ADAMTS10_ENST00000595838.1_5'Flank	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	500	Disintegrin.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.W500*(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TGCTCAGACACCACAGCTCGC	0.711																																					p.W500X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1500A	19						.						41.0	34.0	37.0					19																	8657734		2203	4298	6501	8563734	SO:0001587	stop_gained	81794	exon13			AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.1500G>A	19.37:g.8657734C>T	ENSP00000471851:p.Trp500*	Somatic		Capture	SOLID	Phase_I	8563734	NM_030957	M0QZE4	Nonsense_Mutation	SNP	ENST00000597188.1	37	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	C	42	9.765699	0.99259	.	.	ENSG00000142303	ENST00000270328;ENST00000393912	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.8637	0.88790	0.0:1.0:0.0:0.0	.	.	.	.	X	500;254	.	ENSP00000270328:W500X	W	-	3	0	ADAMTS10	8563734	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.411000	0.80078	2.449000	0.82847	0.655000	0.94253	TGG		0.711	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957	
ZNF426	79088	hgsc.bcm.edu	37	19	9639087	9639087	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr19:9639087C>T	ENST00000535489.1	-	6	1970	c.1634G>A	c.(1633-1635)cGt>cAt	p.R545H	ZNF426_ENST00000593003.1_Missense_Mutation_p.R507H|ZNF426_ENST00000253115.2_Missense_Mutation_p.R545H			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	545					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R545H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TCGAAGTGAACGGGGATGACT	0.393																																					p.R545H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1634A	19						.						125.0	107.0	113.0					19																	9639087		2203	4300	6503	9500087	SO:0001583	missense	79088	exon8			AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818		"""Zinc fingers, C2H2-type"", ""-"""	20725	protein-coding gene	gene with protein product							Standard	NM_024106		Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000535489.1:c.1634G>A	19.37:g.9639087C>T	ENSP00000439017:p.Arg545His	Somatic		Capture	SOLID	Phase_I	9500087	NM_024106	B3KTL2	Missense_Mutation	SNP	ENST00000535489.1	37	CCDS12215.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.909986	0.33721	.	.	ENSG00000130818	ENST00000545189;ENST00000253115;ENST00000535489	T;T	0.07908	3.15;3.15	0.958	-1.92	0.07618	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09379	0.0231	N	0.19112	0.55	0.09310	N	1	D;D	0.65815	0.957;0.995	B;P	0.58520	0.053;0.84	T	0.21552	-1.0242	9	0.62326	D	0.03	.	4.1891	0.10413	0.2355:0.294:0.4704:0.0	.	532;545	Q59EH4;Q9BUY5	.;ZN426_HUMAN	H	532;545;545	ENSP00000253115:R545H;ENSP00000439017:R545H	ENSP00000253115:R545H	R	-	2	0	ZNF426	9500087	0.000000	0.05858	0.000000	0.03702	0.260000	0.26232	-2.313000	0.01126	-0.700000	0.05070	0.460000	0.39030	CGT		0.393	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	NM_024106	
ZNF551	90233	hgsc.bcm.edu	37	19	58198483	58198483	+	Missense_Mutation	SNP	G	G	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr19:58198483G>C	ENST00000282296.5	+	3	1025	c.840G>C	c.(838-840)gaG>gaC	p.E280D	ZNF551_ENST00000596085.1_Intron|AC003006.7_ENST00000594684.1_Intron|AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.E264D			Q7Z340	ZN551_HUMAN	zinc finger protein 551	280					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(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGATGTTTGAGTGTAGTGAAT	0.413																																					p.E264D												.	.	0			c.G792C	19						.						100.0	93.0	95.0					19																	58198483		2203	4300	6503	62890295	SO:0001583	missense	90233	exon3			BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.840G>C	19.37:g.58198483G>C	ENSP00000282296:p.Glu280Asp	Somatic		Capture	SOLID	Phase_I	62890295	NM_138347	B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	ENST00000282296.5	37	CCDS12959.2	.	.	.	.	.	.	.	.	.	.	G	8.348	0.830163	0.16749	.	.	ENSG00000204519	ENST00000356715;ENST00000282296	.	.	.	2.48	0.292	0.15737	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30885	0.0779	L	0.39514	1.22	0.09310	N	1	B	0.20459	0.045	B	0.29598	0.104	T	0.35748	-0.9776	8	0.49607	T	0.09	.	2.8026	0.05419	0.3981:0.244:0.3579:0.0	.	280	Q7Z340	ZN551_HUMAN	D	280;264	.	ENSP00000282296:E264D	E	+	3	2	ZNF551	62890295	0.000000	0.05858	0.005000	0.12908	0.042000	0.13812	-1.649000	0.01993	0.383000	0.24910	0.561000	0.74099	GAG		0.413	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347	
TMEM74	157753	hgsc.bcm.edu	37	8	109796513	109796513	+	Missense_Mutation	SNP	G	G	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr8:109796513G>T	ENST00000297459.3	-	2	993	c.815C>A	c.(814-816)gCa>gAa	p.A272E	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	272					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.A272E(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			ATAGAGTTTTGCAGACTCTTT	0.483																																					p.A272E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C815A	8						.						85.0	82.0	83.0					8																	109796513		2203	4300	6503	109865689	SO:0001583	missense	157753	exon2			AK055230	CCDS6310.1	8q23.1	2009-11-06				ENSG00000164841			26409	protein-coding gene	gene with protein product		613935				12477932	Standard	NM_153015		Approved	FLJ30668, NET36	uc003ymy.1	Q96NL1		ENST00000297459.3:c.815C>A	8.37:g.109796513G>T	ENSP00000297459:p.Ala272Glu	Somatic		Capture	SOLID	Phase_I	109865689	NM_153015		Missense_Mutation	SNP	ENST00000297459.3	37	CCDS6310.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522278	0.85600	.	.	ENSG00000164841	ENST00000297459	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.79393	0.4438	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.78914	-0.2016	9	0.62326	D	0.03	-17.7429	20.3404	0.98760	0.0:0.0:1.0:0.0	.	272	Q96NL1	TMM74_HUMAN	E	272	.	ENSP00000297459:A272E	A	-	2	0	TMEM74	109865689	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.859000	0.99545	2.812000	0.96745	0.637000	0.83480	GCA		0.483	TMEM74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380755.1	NM_153015	
CSMD3	114788	hgsc.bcm.edu	37	8	113256691	113256691	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr8:113256691G>A	ENST00000297405.5	-	65	10578	c.10334C>T	c.(10333-10335)gCa>gTa	p.A3445V	CSMD3_ENST00000343508.3_Missense_Mutation_p.A3405V|CSMD3_ENST00000455883.2_Missense_Mutation_p.A3276V|CSMD3_ENST00000352409.3_Missense_Mutation_p.A3375V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3445	Sushi 28. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A3445V(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTTCCACCTGCTAAGAAGAA	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.A3445V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C10334T	8						.						132.0	116.0	121.0					8																	113256691		2203	4300	6503	113325867	SO:0001583	missense	114788	exon65			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10334C>T	8.37:g.113256691G>A	ENSP00000297405:p.Ala3445Val	Somatic		Capture	SOLID	Phase_I	113325867	NM_198123	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522882	0.85600	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03	5.37	4.5	0.54988	Complement control module (2);Sushi/SCR/CCP (3);	0.171297	0.39615	N	0.001317	T	0.55800	0.1943	N	0.10618	0.005	0.43896	D	0.996523	P;P;D	0.58970	0.532;0.65;0.984	B;B;P	0.59171	0.356;0.428;0.853	T	0.56768	-0.7924	10	0.25106	T	0.35	.	14.1728	0.65522	0.0714:0.0:0.9286:0.0	.	3276;3445;3405	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	3405;3445;2715;3276;3375	ENSP00000345799:A3405V;ENSP00000297405:A3445V;ENSP00000341558:A2715V;ENSP00000412263:A3276V;ENSP00000343124:A3375V	ENSP00000297405:A3445V	A	-	2	0	CSMD3	113325867	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	7.554000	0.82212	1.508000	0.48769	-0.229000	0.12294	GCA		0.423	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
DSCC1	79075	hgsc.bcm.edu	37	8	120847153	120847153	+	Missense_Mutation	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr8:120847153A>G	ENST00000313655.4	-	9	1376	c.1162T>C	c.(1162-1164)Tcg>Ccg	p.S388P	TAF2_ENST00000378164.2_5'Flank	NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	388					DNA replication (GO:0006260)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.S388P(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GGTCTTCTCGAATTATAAACT	0.333																																					p.S388P												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1162C	8						.						77.0	80.0	79.0					8																	120847153		2203	4297	6500	120916334	SO:0001583	missense	79075	exon9				CCDS6330.1	8q24.12	2013-05-24	2013-05-24		ENSG00000136982	ENSG00000136982			24453	protein-coding gene	gene with protein product	"""defective in sister chromatid cohesion homolog 1 (S. cerevisiae)"""	613203	"""defective in sister chromatid cohesion 1 homolog (S. cerevisiae)"""			12766176, 20826785	Standard	NM_024094		Approved	DCC1, hDCC1, MGC5528	uc003yov.3	Q9BVC3	OTTHUMG00000165010	ENST00000313655.4:c.1162T>C	8.37:g.120847153A>G	ENSP00000322180:p.Ser388Pro	Somatic		Capture	SOLID	Phase_I	120916334	NM_024094	Q969N5	Missense_Mutation	SNP	ENST00000313655.4	37	CCDS6330.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.504556	0.85176	.	.	ENSG00000136982	ENST00000313655	T	0.53857	0.6	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.68550	0.3013	M	0.64997	1.995	0.58432	D	0.999999	D	0.89917	1.0	D	0.74348	0.983	T	0.68500	-0.5392	10	0.40728	T	0.16	-11.1812	15.1574	0.72755	1.0:0.0:0.0:0.0	.	388	Q9BVC3	DCC1_HUMAN	P	388	ENSP00000322180:S388P	ENSP00000322180:S388P	S	-	1	0	DSCC1	120916334	1.000000	0.71417	0.998000	0.56505	0.880000	0.50808	9.052000	0.93855	2.053000	0.61076	0.533000	0.62120	TCG		0.333	DSCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381443.1	NM_024094	
TATDN1	83940	hgsc.bcm.edu	37	8	125498855	125498855	+	IGR	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr8:125498855G>A	ENST00000276692.6	-	0	1018				RNF139_ENST00000303545.3_Missense_Mutation_p.R322H|RP11-158K1.3_ENST00000518639.1_RNA	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1						DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)	p.R322H(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GATGACAGGCGTCTTGGCTTT	0.423																																					p.R322H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G965A	8						.						76.0	73.0	74.0					8																	125498855		2203	4300	6503	125568036	SO:0001628	intergenic_variant	11236	exon2			AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068		8.37:g.125498855G>A		Somatic		Capture	SOLID	Phase_I	125568036	NM_007218	B2R5J0|Q8TD02|Q9BY40	Missense_Mutation	SNP	ENST00000276692.6	37	CCDS6351.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.735449	0.49045	.	.	ENSG00000170881	ENST00000303545	T	0.21932	1.98	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.19604	0.0471	L	0.46157	1.445	0.80722	D	1	P	0.36378	0.55	B	0.32393	0.145	T	0.04900	-1.0919	10	0.12430	T	0.62	-11.4793	19.2104	0.93751	0.0:0.0:1.0:0.0	.	322	Q8WU17	RN139_HUMAN	H	322	ENSP00000304051:R322H	ENSP00000304051:R322H	R	+	2	0	RNF139	125568036	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.103000	0.71492	2.590000	0.87494	0.655000	0.94253	CGT		0.423	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026	
KCNK9	51305	hgsc.bcm.edu	37	8	140630788	140630788	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr8:140630788G>A	ENST00000520439.1	-	2	901	c.838C>T	c.(838-840)Cgg>Tgg	p.R280W	KCNK9_ENST00000303015.1_Missense_Mutation_p.R280W|KCNK9_ENST00000523477.1_5'Flank	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	280					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.R280W(1)		NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	CGGCTGGGCCGCGGCTCCTCA	0.652																																					p.R280W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C838T	8						.						45.0	51.0	49.0					8																	140630788		2203	4300	6503	140699970	SO:0001583	missense	51305	exon2			AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.838C>T	8.37:g.140630788G>A	ENSP00000430676:p.Arg280Trp	Somatic		Capture	SOLID	Phase_I	140699970	NM_016601	Q2M290|Q540F2	Missense_Mutation	SNP	ENST00000520439.1	37	CCDS6377.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.341172	0.24339	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.16897	2.31;2.31;2.31	5.76	4.87	0.63330	.	1.062950	0.07244	N	0.864820	T	0.16514	0.0397	L	0.44542	1.39	0.25864	N	0.983781	D	0.55385	0.971	B	0.35312	0.2	T	0.28996	-1.0026	10	0.72032	D	0.01	.	13.0055	0.58701	0.0:0.0:0.7063:0.2937	.	280	Q9NPC2	KCNK9_HUMAN	W	280	ENSP00000429847:R280W;ENSP00000302166:R280W;ENSP00000430676:R280W	ENSP00000302166:R280W	R	-	1	2	KCNK9	140699970	0.998000	0.40836	0.002000	0.10522	0.002000	0.02628	6.295000	0.72744	1.400000	0.46741	0.591000	0.81541	CGG		0.652	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601	
DENND3	22898	hgsc.bcm.edu	37	8	142160983	142160983	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr8:142160983C>T	ENST00000262585.2	+	6	824	c.546C>T	c.(544-546)ccC>ccT	p.P182P	DENND3_ENST00000519811.1_Silent_p.P262P|DENND3_ENST00000424248.1_Silent_p.P182P	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	182	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.P182P(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GAGCAGACCCCGAAAGCCCCA	0.597																																					p.P182P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C546T	8						.						127.0	120.0	122.0					8																	142160983		2203	4300	6503	142230165	SO:0001819	synonymous_variant	22898	exon6			AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.546C>T	8.37:g.142160983C>T		Somatic		Capture	SOLID	Phase_I	142230165	NM_014957	B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Silent	SNP	ENST00000262585.2	37	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	C	0.199	-1.046505	0.01997	.	.	ENSG00000105339	ENST00000518668	.	.	.	5.4	-10.8	0.00216	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.5496	3.0978	0.06315	0.1863:0.1397:0.1876:0.4864	.	.	.	.	X	239	.	.	R	+	1	2	DENND3	142230165	0.000000	0.05858	0.002000	0.10522	0.068000	0.16541	-3.066000	0.00621	-3.412000	0.00168	-0.254000	0.11334	CGA		0.597	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957	
TUSC3	7991	hgsc.bcm.edu	37	8	15605922	15605922	+	Missense_Mutation	SNP	T	T	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr8:15605922T>G	ENST00000503731.1	+	9	1124	c.976T>G	c.(976-978)Ttc>Gtc	p.F326V	TUSC3_ENST00000506802.1_Intron|TUSC3_ENST00000382020.4_Missense_Mutation_p.F326V	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	326					cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)	p.F326V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		GGTCTTCTTCTTCAGTTTTCT	0.323																																					p.F326V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T976G	8						.						247.0	235.0	239.0					8																	15605922		2203	4300	6503	15650293	SO:0001583	missense	7991	exon9			AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog A (S. cerevisiae)"""	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.976T>G	8.37:g.15605922T>G	ENSP00000424544:p.Phe326Val	Somatic		Capture	SOLID	Phase_I	15650293	NM_178234	A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Missense_Mutation	SNP	ENST00000503731.1	37	CCDS5994.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.762051	0.89932	.	.	ENSG00000104723	ENST00000382020;ENST00000503731	T;T	0.78924	-1.22;-1.22	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.87819	0.6273	M	0.80616	2.505	0.80722	D	1	D;D	0.60575	0.981;0.988	D;P	0.69142	0.962;0.893	D	0.87783	0.2613	10	0.44086	T	0.13	-16.1508	15.7284	0.77780	0.0:0.0:0.0:1.0	.	326;326	Q13454-2;Q13454	.;TUSC3_HUMAN	V	326	ENSP00000371450:F326V;ENSP00000424544:F326V	ENSP00000221167:F326V	F	+	1	0	TUSC3	15650293	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.367000	0.79558	2.371000	0.80710	0.533000	0.62120	TTC		0.323	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365367.1	NM_006765	
CCAR2	57805	hgsc.bcm.edu	37	8	22464748	22464748	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr8:22464748G>A	ENST00000308511.4	+	6	646	c.397G>A	c.(397-399)Gca>Aca	p.A133T	CCAR2_ENST00000389279.3_Missense_Mutation_p.A133T|CCAR2_ENST00000520861.1_Splice_Site			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	133					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)	p.A133T(1)									TCTGCATGTAGCAGCCCTGGG	0.577																																					p.A133T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G397A	8						.						71.0	60.0	64.0					8																	22464748		2203	4300	6503	22520693	SO:0001583	missense	57805	exon6			AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"""deleted in breast cancer"""	607359	"""KIAA1967"""	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.397G>A	8.37:g.22464748G>A	ENSP00000310670:p.Ala133Thr	Somatic		Capture	SOLID	Phase_I	22520693	NM_021174	A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Missense_Mutation	SNP	ENST00000308511.4	37	CCDS34863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.60|19.60	3.857991|3.857991	0.71834|0.71834	.|.	.|.	ENSG00000158941|ENSG00000158941	ENST00000308511;ENST00000389279;ENST00000521837;ENST00000523349|ENST00000523801;ENST00000518989	T;T|.	0.31769|.	1.48;1.48|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.141721|.	0.48767|.	D|.	0.000168|.	T|T	0.55321|0.55321	0.1913|0.1913	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.77004|.	0.989|.	T|T	0.46498|0.46498	-0.9187|-0.9187	10|5	0.26408|.	T|.	0.33|.	-13.6293|-13.6293	17.7962|17.7962	0.88572|0.88572	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	133|.	Q8N163|.	K1967_HUMAN|.	T|N	133|140;85	ENSP00000310670:A133T;ENSP00000373930:A133T|.	ENSP00000310670:A133T|.	A|S	+|+	1|2	0|0	KIAA1967|KIAA1967	22520693|22520693	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.968000|5.968000	0.70413|0.70413	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCA|AGC		0.577	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	NM_021174	
FZD3	7976	hgsc.bcm.edu	37	8	28385355	28385355	+	Missense_Mutation	SNP	G	G	A	rs375741315		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr8:28385355G>A	ENST00000240093.3	+	5	1556	c.1078G>A	c.(1078-1080)Gtg>Atg	p.V360M	RNA5SP259_ENST00000365541.1_RNA|FZD3_ENST00000537916.1_Missense_Mutation_p.V360M	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	360					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.V360M(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		TATTAGTGGCGTGTGTTTTGT	0.458																																					p.V360M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1078A	8						.						145.0	143.0	144.0					8																	28385355		2203	4300	6503	28441274	SO:0001583	missense	7976	exon4			AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"""GPCR / Class F : Frizzled receptors"""	4041	protein-coding gene	gene with protein product		606143	"""frizzled (Drosophila) homolog 3"", ""frizzled homolog 3 (Drosophila)"", ""frizzled 3, seven transmembrane spanning receptor"", ""frizzled family receptor 3"""			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.1078G>A	8.37:g.28385355G>A	ENSP00000240093:p.Val360Met	Somatic		Capture	SOLID	Phase_I	28441274	NM_145866	A8K615	Missense_Mutation	SNP	ENST00000240093.3	37	CCDS6069.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947188	0.73672	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	D;D	0.84800	-1.9;-1.9	5.11	5.11	0.69529	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.92067	0.7486	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93025	0.6443	10	0.87932	D	0	.	17.0794	0.86594	0.0:0.0:1.0:0.0	.	360	Q9NPG1	FZD3_HUMAN	M	360	ENSP00000437489:V360M;ENSP00000240093:V360M	ENSP00000240093:V360M	V	+	1	0	FZD3	28441274	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.033000	0.88852	2.371000	0.80710	0.563000	0.77884	GTG		0.458	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866	
EXTL3	2137	hgsc.bcm.edu	37	8	28574529	28574529	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr8:28574529C>T	ENST00000220562.4	+	3	1855	c.953C>T	c.(952-954)cCg>cTg	p.P318L	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	318					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)	p.P318L(1)		biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GTCGTATCACCGCTGGTCCAT	0.537																																					p.P318L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C953T	8						.						84.0	75.0	78.0					8																	28574529		2203	4300	6503	28630448	SO:0001583	missense	2137	exon3			U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.953C>T	8.37:g.28574529C>T	ENSP00000220562:p.Pro318Leu	Somatic		Capture	SOLID	Phase_I	28630448	NM_001440	D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	ENST00000220562.4	37	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.101374	0.37048	.	.	ENSG00000012232	ENST00000220562	D	0.97553	-4.43	5.21	4.32	0.51571	.	0.052601	0.85682	D	0.000000	D	0.96744	0.8937	M	0.72353	2.195	0.80722	D	1	D	0.56287	0.975	P	0.48400	0.576	D	0.96021	0.9009	9	.	.	.	-13.9744	15.2082	0.73195	0.1416:0.8584:0.0:0.0	.	318	O43909	EXTL3_HUMAN	L	318	ENSP00000220562:P318L	.	P	+	2	0	EXTL3	28630448	1.000000	0.71417	0.048000	0.18961	0.337000	0.28794	7.651000	0.83577	1.394000	0.46624	0.555000	0.69702	CCG		0.537	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440	
TEX15	56154	hgsc.bcm.edu	37	8	30704239	30704239	+	Silent	SNP	G	G	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr8:30704239G>T	ENST00000256246.2	-	1	2369	c.2295C>A	c.(2293-2295)acC>acA	p.T765T	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	765					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.T765T(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AAATTGGGCTGGTAAGTTCTG	0.353																																					p.T765T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2295A	8						.						70.0	74.0	72.0					8																	30704239		2203	4300	6503	30823781	SO:0001819	synonymous_variant	56154	exon1			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.2295C>A	8.37:g.30704239G>T		Somatic		Capture	SOLID	Phase_I	30823781	NM_031271		Silent	SNP	ENST00000256246.2	37	CCDS6080.1																																																																																				0.353	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
STAR	6770	hgsc.bcm.edu	37	8	38006196	38006196	+	Silent	SNP	C	C	T	rs147318238	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr8:38006196C>T	ENST00000276449.4	-	2	587	c.141G>A	c.(139-141)acG>acA	p.T47T	RP11-90P5.2_ENST00000520598.1_RNA	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	47					bile acid biosynthetic process (GO:0006699)|biphenyl metabolic process (GO:0018879)|brain development (GO:0007420)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth hormone stimulus (GO:0071378)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-alpha (GO:0035457)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to luteinizing hormone stimulus (GO:0071373)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cholesterol metabolic process (GO:0008203)|circadian sleep/wake cycle, REM sleep (GO:0042747)|dibenzo-p-dioxin metabolic process (GO:0018894)|diterpenoid metabolic process (GO:0016101)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|glucocorticoid metabolic process (GO:0008211)|insecticide metabolic process (GO:0017143)|intracellular cholesterol transport (GO:0032367)|male gonad development (GO:0008584)|negative regulation of neuron apoptotic process (GO:0043524)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of gene expression (GO:0010628)|positive regulation of neurogenesis (GO:0050769)|progesterone biosynthetic process (GO:0006701)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of steroid biosynthetic process (GO:0050810)|response to activity (GO:0014823)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to hydrogen peroxide (GO:0042542)|response to ionizing radiation (GO:0010212)|response to lead ion (GO:0010288)|response to leptin (GO:0044321)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytosol (GO:0005829)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	cholesterol binding (GO:0015485)	p.T47T(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		GGTTAATCCACGTGCTAGGGG	0.632													C|||	2	0.000399361	0.0	0.0	5008	,	,		16999	0.0		0.002	False		,,,				2504	0.0				p.T47T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G141A	8						.	C		4,4402	8.1+/-20.4	0,4,2199	45.0	50.0	48.0		141	-10.6	0.0	8	dbSNP_134	48	26,8574	17.3+/-56.4	0,26,4274	no	coding-synonymous	STAR	NM_000349.2		0,30,6473	TT,TC,CC		0.3023,0.0908,0.2307		47/286	38006196	30,12976	2203	4300	6503	38125353	SO:0001819	synonymous_variant	6770	exon2			BC010550	CCDS6102.1	8p11.2	2011-09-13	2007-05-15		ENSG00000147465	ENSG00000147465		"""StAR-related lipid transfer (START) domain containing"""	11359	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 1"""	600617	"""steroidogenic acute regulator"""			7761400	Standard	NM_000349		Approved	StAR, STARD1	uc003xkv.1	P49675	OTTHUMG00000164058	ENST00000276449.4:c.141G>A	8.37:g.38006196C>T		Somatic		Capture	SOLID	Phase_I	38125353	NM_000349	Q16396	Silent	SNP	ENST00000276449.4	37	CCDS6102.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	9.518	1.107443	0.20714	9.08E-4	0.003023	ENSG00000147465	ENST00000522050	.	.	.	5.28	-10.6	0.00265	.	.	.	.	.	T	0.41971	0.1182	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51284	-0.8725	4	.	.	.	-0.3751	5.4663	0.16646	0.0843:0.1978:0.1664:0.5515	.	.	.	.	H	26	.	.	R	-	2	0	STAR	38125353	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-3.740000	0.00378	-2.854000	0.00330	-1.474000	0.01003	CGT		0.632	STAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376990.2	NM_000349	
ADAM18	8749	hgsc.bcm.edu	37	8	39537573	39537573	+	Missense_Mutation	SNP	A	A	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr8:39537573A>C	ENST00000265707.5	+	16	1694	c.1649A>C	c.(1648-1650)aAa>aCa	p.K550T	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.K526T	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	550	Cys-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CTCTGTGGAAAATTAGCTTGT	0.348																																					p.K550T												.	.	0			c.A1649C	8						.						88.0	82.0	84.0					8																	39537573		2203	4300	6503	39656730	SO:0001583	missense	8749	exon16			AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1649A>C	8.37:g.39537573A>C	ENSP00000265707:p.Lys550Thr	Somatic		Capture	SOLID	Phase_I	39656730	NM_014237	B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	A	17.33	3.362658	0.61403	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000522198	T;T	0.26067	1.76;1.76	4.33	4.33	0.51752	ADAM, cysteine-rich (2);	0.000000	0.44688	D	0.000433	T	0.47857	0.1468	M	0.76328	2.33	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.75484	0.976;0.986	T	0.50320	-0.8842	10	0.87932	D	0	.	10.1954	0.43051	1.0:0.0:0.0:0.0	.	526;550	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	T	550;526;482	ENSP00000265707:K550T;ENSP00000369195:K526T	ENSP00000265707:K550T	K	+	2	0	ADAM18	39656730	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.570000	0.53834	2.189000	0.69895	0.533000	0.62120	AAA		0.348	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237	
ADAM2	2515	hgsc.bcm.edu	37	8	39626969	39626969	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr8:39626969G>A	ENST00000265708.4	-	12	1257	c.1154C>T	c.(1153-1155)gCa>gTa	p.A385V	ADAM2_ENST00000521880.1_Missense_Mutation_p.A385V|ADAM2_ENST00000347580.4_Missense_Mutation_p.A366V|ADAM2_ENST00000379853.2_Missense_Mutation_p.A259V	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	385	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A385V(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		ACCACACACTGCTTGCTGTTT	0.448																																					p.A385V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1154T	8						.						159.0	144.0	149.0					8																	39626969		2203	4300	6503	39746126	SO:0001583	missense	2515	exon12			U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1154C>T	8.37:g.39626969G>A	ENSP00000265708:p.Ala385Val	Somatic		Capture	SOLID	Phase_I	39746126	NM_001464	P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.061924	0.36373	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.02345	4.94;4.33;5.18;5.14	5.11	4.23	0.50019	Blood coagulation inhibitor, Disintegrin (1);Metallopeptidase, catalytic domain (1);	.	.	.	.	T	0.08268	0.0206	M	0.77103	2.36	0.09310	N	1	B;P;P;B	0.41313	0.023;0.745;0.567;0.078	B;B;P;B	0.45449	0.082;0.425;0.481;0.082	T	0.07195	-1.0785	8	.	.	.	.	11.8912	0.52630	0.0:0.1762:0.8238:0.0	.	385;259;366;385	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	V	366;259;385;385	ENSP00000343854:A366V;ENSP00000369182:A259V;ENSP00000265708:A385V;ENSP00000429352:A385V	.	A	-	2	0	ADAM2	39746126	0.057000	0.20700	0.009000	0.14445	0.003000	0.03518	2.768000	0.47645	1.251000	0.43983	0.650000	0.86243	GCA		0.448	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464	
PDE7A	5150	hgsc.bcm.edu	37	8	66637117	66637117	+	Silent	SNP	G	G	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr8:66637117G>T	ENST00000401827.3	-	10	1403	c.960C>A	c.(958-960)gcC>gcA	p.A320A	PDE7A_ENST00000379419.4_Silent_p.A294A|PDE7A_ENST00000518667.1_5'Flank|PDE7A_ENST00000396642.3_Silent_p.A320A	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	320	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)	p.A294A(1)		large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	TGATGTCTGTGGCTAGTATCA	0.363																																					p.A294A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C882A	8						.						107.0	103.0	105.0					8																	66637117		2203	4300	6503	66799671	SO:0001819	synonymous_variant	5150	exon10			L12052	CCDS34901.1, CCDS56538.1	8q13	2008-03-18				ENSG00000205268	3.1.4.17	"""Phosphodiesterases"""	8791	protein-coding gene	gene with protein product		171885				8389765, 9521885	Standard	NM_001242318		Approved	HCP1	uc003xvq.3	Q13946		ENST00000401827.3:c.960C>A	8.37:g.66637117G>T		Somatic		Capture	SOLID	Phase_I	66799671	NM_002603	A0AVH6|A8K436|A8K9G5|O15380|Q96T72	Silent	SNP	ENST00000401827.3	37	CCDS56538.1																																																																																				0.363	PDE7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378905.1		
TRIM55	84675	hgsc.bcm.edu	37	8	67039509	67039509	+	Missense_Mutation	SNP	C	C	A	rs191935864	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr8:67039509C>A	ENST00000315962.4	+	1	379	c.6C>A	c.(4-6)agC>agA	p.S2R	TRIM55_ENST00000353317.5_Missense_Mutation_p.S2R|TRIM55_ENST00000276573.7_Missense_Mutation_p.S2R|TRIM55_ENST00000350034.4_Missense_Mutation_p.S2R	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	2					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.S2R(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			AGGAGATGAGCGCATCTCTGA	0.478																																					p.S2R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6A	8						.						102.0	101.0	101.0					8																	67039509		2203	4300	6503	67202063	SO:0001583	missense	84675	exon1			AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	14215	protein-coding gene	gene with protein product		606469	"""ring finger protein 29"", ""tripartite motif-containing 55"""	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.6C>A	8.37:g.67039509C>A	ENSP00000323913:p.Ser2Arg	Somatic		Capture	SOLID	Phase_I	67202063	NM_184085	B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Missense_Mutation	SNP	ENST00000315962.4	37	CCDS6184.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576785	0.65878	.	.	ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000276573;ENST00000350034	T;T;T;T	0.40225	1.05;1.27;1.04;1.04	5.72	-2.14	0.07123	.	0.275019	0.47093	D	0.000243	T	0.50394	0.1613	L	0.44542	1.39	0.30247	N	0.794451	D;D;D;D	0.76494	0.992;0.998;0.998;0.999	D;D;D;D	0.72982	0.93;0.971;0.954;0.979	T	0.56335	-0.7996	10	0.87932	D	0	.	12.8451	0.57825	0.0:0.5685:0.0:0.4315	.	2;2;2;2	Q9BYV6-4;Q9BYV6-2;Q9BYV6;Q9BYV6-3	.;.;TRI55_HUMAN;.	R	2	ENSP00000323913:S2R;ENSP00000297348:S2R;ENSP00000276573:S2R;ENSP00000332302:S2R	ENSP00000276573:S2R	S	+	3	2	TRIM55	67202063	0.838000	0.29461	0.861000	0.33841	0.906000	0.53458	0.078000	0.14761	-0.341000	0.08376	-0.126000	0.14955	AGC		0.478	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085	
PREX2	80243	hgsc.bcm.edu	37	8	68931858	68931858	+	Missense_Mutation	SNP	C	C	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr8:68931858C>A	ENST00000288368.4	+	3	565	c.288C>A	c.(286-288)caC>caA	p.H96Q	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	96	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.H96Q(2)|p.H96H(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AATGCTTACACCCCGAACCTA	0.333																																					p.H96Q												DEPDC2,skin,NS,Substitution - coding silent,0	.	3	Substitution - Missense(2)|Substitution - coding silent(1)	large_intestine(2)|skin(1)	c.C288A	8						.						94.0	102.0	99.0					8																	68931858		2203	4300	6503	69094412	SO:0001583	missense	80243	exon3			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.288C>A	8.37:g.68931858C>A	ENSP00000288368:p.His96Gln	Somatic		Capture	SOLID	Phase_I	69094412	NM_025170	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	2.007	-0.428097	0.04701	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.66460	-0.21	5.81	0.551	0.17225	Dbl homology (DH) domain (5);	0.353812	0.30260	N	0.010027	T	0.19604	0.0471	N	0.00303	-1.675	0.28343	N	0.921237	B;B	0.02656	0.0;0.0	B;B	0.09377	0.002;0.004	T	0.26189	-1.0110	10	0.06757	T	0.87	.	1.2871	0.02052	0.1347:0.2279:0.1401:0.4972	.	96;96	Q70Z35;Q70Z35-3	PREX2_HUMAN;.	Q	96	ENSP00000288368:H96Q	ENSP00000288368:H96Q	H	+	3	2	PREX2	69094412	1.000000	0.71417	0.983000	0.44433	0.679000	0.39708	0.998000	0.29744	-0.129000	0.11620	-0.312000	0.09012	CAC		0.333	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170	
ZC2HC1A	51101	hgsc.bcm.edu	37	8	79609654	79609654	+	Missense_Mutation	SNP	G	G	A	rs138000597		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr8:79609654G>A	ENST00000263849.4	+	6	619	c.517G>A	c.(517-519)Gca>Aca	p.A173T	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	173							metal ion binding (GO:0046872)	p.A173T(1)									TAAGCCACCCGCACTTAAAAA	0.373																																					p.A173T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G517A	8						.	G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	60.0	61.0	61.0		517	2.7	1.0	8	dbSNP_134	61	0,8600		0,0,4300	no	missense	FAM164A	NM_016010.2	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	173/326	79609654	1,13005	2203	4300	6503	79772209	SO:0001583	missense	51101	exon6				CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"""Zinc fingers, C2HC-type containing"""	24277	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 70"", ""family with sequence similarity 164, member A"""	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.517G>A	8.37:g.79609654G>A	ENSP00000263849:p.Ala173Thr	Somatic		Capture	SOLID	Phase_I	79772209	NM_016010	Q9Y372	Missense_Mutation	SNP	ENST00000263849.4	37	CCDS6223.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.23|10.23	1.292861|1.292861	0.23564|0.23564	2.27E-4|2.27E-4	0.0|0.0	ENSG00000104427|ENSG00000104427	ENST00000263849|ENST00000519307	T|.	0.46819|.	0.86|.	5.48|5.48	2.68|2.68	0.31781|0.31781	.|.	0.460122|.	0.25813|.	N|.	0.028137|.	T|T	0.44138|0.44138	0.1279|0.1279	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	P|.	0.43607|.	0.812|.	B|.	0.30316|.	0.114|.	T|T	0.15378|0.15378	-1.0439|-1.0439	9|5	.|.	.|.	.|.	-7.3089|-7.3089	5.9857|5.9857	0.19432|0.19432	0.2167:0.2644:0.5188:0.0|0.2167:0.2644:0.5188:0.0	.|.	173|.	Q96GY0|.	F164A_HUMAN|.	T|H	173|5	ENSP00000263849:A173T|.	.|.	A|R	+|+	1|2	0|0	FAM164A|FAM164A	79772209|79772209	0.981000|0.981000	0.34729|0.34729	0.994000|0.994000	0.49952|0.49952	0.476000|0.476000	0.33039|0.33039	0.940000|0.940000	0.28992|0.28992	0.361000|0.361000	0.24292|0.24292	-0.122000|-0.122000	0.15005|0.15005	GCA|CGC		0.373	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379423.2	NM_016010	
GEM	2669	hgsc.bcm.edu	37	8	95262677	95262677	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr8:95262677C>T	ENST00000297596.2	-	5	1016	c.752G>A	c.(751-753)cGg>cAg	p.R251Q	GEM_ENST00000396194.2_Missense_Mutation_p.R251Q	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	251					cell surface receptor signaling pathway (GO:0007166)|chromosome organization (GO:0051276)|immune response (GO:0006955)|metaphase plate congression (GO:0051310)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic side of plasma membrane (GO:0009898)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle midzone (GO:0051233)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)	p.R251Q(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			GGCCAGCCGCCGTTCATTCTT	0.562																																					p.R251Q	GBM(125;80 1653 28655 32188 47338)|Esophageal Squamous(19;97 579 13602 49091 51766)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G752A	8						.						64.0	62.0	62.0					8																	95262677		2203	4300	6503	95331853	SO:0001583	missense	2669	exon5				CCDS6261.1	8q13-q21	2014-05-09	2001-11-28		ENSG00000164949	ENSG00000164949			4234	protein-coding gene	gene with protein product	"""kinase-inducible Ras-like protein"""	600164	"""GTP-binding protein overexpressed in skeletal muscle"""			7912851, 11956230	Standard	NM_005261		Approved	KIR	uc003ygj.3	P55040	OTTHUMG00000164392	ENST00000297596.2:c.752G>A	8.37:g.95262677C>T	ENSP00000297596:p.Arg251Gln	Somatic		Capture	SOLID	Phase_I	95331853	NM_181702	B2RA31	Missense_Mutation	SNP	ENST00000297596.2	37	CCDS6261.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545844	0.45280	.	.	ENSG00000164949	ENST00000396194;ENST00000297596	T;T	0.79845	-1.31;-1.31	5.47	5.47	0.80525	.	0.102696	0.64402	D	0.000006	T	0.70675	0.3251	L	0.47716	1.5	0.44754	D	0.99775	B	0.30511	0.282	B	0.14578	0.011	T	0.66854	-0.5818	10	0.28530	T	0.3	.	10.8324	0.46667	0.0:0.8842:0.0:0.1158	.	251	P55040	GEM_HUMAN	Q	251	ENSP00000379497:R251Q;ENSP00000297596:R251Q	ENSP00000297596:R251Q	R	-	2	0	GEM	95331853	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	3.077000	0.50089	2.733000	0.93635	0.557000	0.71058	CGG		0.562	GEM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378566.1	NM_181702	
RAD54B	25788	hgsc.bcm.edu	37	8	95403906	95403906	+	Silent	SNP	G	G	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr8:95403906G>T	ENST00000336148.5	-	10	1864	c.1740C>A	c.(1738-1740)ccC>ccA	p.P580P		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	580					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)	p.P580P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			ATATTAGATGGGGACTATTTT	0.413								Direct reversal of damage;Homologous recombination																													p.P580P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1740A	8						.						119.0	120.0	119.0					8																	95403906		2203	4300	6503	95473082	SO:0001819	synonymous_variant	25788	exon10			AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.1740C>A	8.37:g.95403906G>T		Somatic		Capture	SOLID	Phase_I	95473082	NM_012415	F6WBS8	Silent	SNP	ENST00000336148.5	37	CCDS6262.1																																																																																				0.413	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415	
KIAA1429	25962	hgsc.bcm.edu	37	8	95539141	95539141	+	Missense_Mutation	SNP	G	G	A	rs540719692		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr8:95539141G>A	ENST00000297591.5	-	8	1406	c.1331C>T	c.(1330-1332)gCg>gTg	p.A444V	KIAA1429_ENST00000437199.1_Missense_Mutation_p.A444V|KIAA1429_ENST00000421249.2_Missense_Mutation_p.A444V	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	444					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A444V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TTGGCGAAGCGCTACTTGTAA	0.433													G|||	1	0.000199681	0.0	0.0	5008	,	,		19744	0.0		0.0	False		,,,				2504	0.001				p.A444V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1331T	8						.						104.0	100.0	101.0					8																	95539141		2203	4300	6503	95608317	SO:0001583	missense	25962	exon8			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.1331C>T	8.37:g.95539141G>A	ENSP00000297591:p.Ala444Val	Somatic		Capture	SOLID	Phase_I	95608317	NM_015496	Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621214	0.87460	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.60171	0.21;0.24;0.21	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.76399	0.3982	M	0.66939	2.045	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	T	0.77059	-0.2728	10	0.87932	D	0	-8.7347	20.1588	0.98128	0.0:0.0:1.0:0.0	.	444;444	Q69YN4-4;Q69YN4	.;VIR_HUMAN	V	444	ENSP00000297591:A444V;ENSP00000395600:A444V;ENSP00000398390:A444V	ENSP00000297591:A444V	A	-	2	0	KIAA1429	95608317	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	9.476000	0.97823	2.770000	0.95276	0.563000	0.77884	GCG		0.433	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496	
SDC2	6383	hgsc.bcm.edu	37	8	97506552	97506552	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr8:97506552C>T	ENST00000302190.4	+	1	974	c.53C>T	c.(52-54)gCg>gTg	p.A18V	SDC2_ENST00000522911.1_Intron|SDC2_ENST00000518385.1_Missense_Mutation_p.A18V|SDC2_ENST00000520233.1_3'UTR	NM_002998.3	NP_002989.2	P34741	SDC2_HUMAN	syndecan 2	18					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dendrite morphogenesis (GO:0048813)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|regulation of dendrite morphogenesis (GO:0048814)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)	p.A18V(1)		breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2)	16	Breast(36;3.41e-05)				Sargramostim(DB00020)	TGCGTGTCGGCGGAGTCGGTG	0.672																																					p.A18V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C53T	8						.						38.0	37.0	37.0					8																	97506552		2128	4193	6321	97575728	SO:0001583	missense	6383	exon1			BC030133	CCDS6272.1	8q22-q23	2011-08-11	2007-02-15		ENSG00000169439	ENSG00000169439		"""Proteoglycans / Cell Surface : Syndecans"", ""CD molecules"""	10659	protein-coding gene	gene with protein product	"""syndecan proteoglycan 2"""	142460	"""heparan sulfate proteoglycan 1, cell surface-associated"""	HSPG, HSPG1		8187643	Standard	NM_002998		Approved	fibroglycan, SYND2, CD362	uc003yhv.1	P34741	OTTHUMG00000164689	ENST00000302190.4:c.53C>T	8.37:g.97506552C>T	ENSP00000307046:p.Ala18Val	Somatic		Capture	SOLID	Phase_I	97575728	NM_002998	B3KQA3|Q6PIS6|Q9H6V1	Missense_Mutation	SNP	ENST00000302190.4	37	CCDS6272.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885568	0.51908	.	.	ENSG00000169439	ENST00000302190;ENST00000518385;ENST00000545117;ENST00000546193	T;T	0.42131	1.37;0.98	4.55	2.6	0.31112	.	0.954712	0.08776	N	0.895546	T	0.31104	0.0786	L	0.29908	0.895	0.25600	N	0.986607	B	0.23591	0.088	B	0.17433	0.018	T	0.17992	-1.0351	10	0.23891	T	0.37	-0.5947	11.2128	0.48808	0.0:0.517:0.483:0.0	.	18	P34741	SDC2_HUMAN	V	18;18;18;8	ENSP00000307046:A18V;ENSP00000429045:A18V	ENSP00000307046:A18V	A	+	2	0	SDC2	97575728	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	2.526000	0.45607	1.084000	0.41184	0.563000	0.77884	GCG		0.672	SDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379750.1	NM_002998	
MTDH	92140	hgsc.bcm.edu	37	8	98718971	98718971	+	Missense_Mutation	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr8:98718971A>G	ENST00000336273.3	+	8	1593	c.1265A>G	c.(1264-1266)gAt>gGt	p.D422G	MTDH_ENST00000519934.1_Missense_Mutation_p.D366G	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	422	Lung-homing for mammary tumors. {ECO:0000250}.				lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)	p.D422G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			ATTCCTGATGATCAAAAGGTG	0.468																																					p.D422G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1265G	8						.						115.0	121.0	119.0					8																	98718971		2203	4300	6503	98788147	SO:0001583	missense	92140	exon8			AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"""astrocyte elevated gene 1"""	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.1265A>G	8.37:g.98718971A>G	ENSP00000338235:p.Asp422Gly	Somatic		Capture	SOLID	Phase_I	98788147	NM_178812	Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Missense_Mutation	SNP	ENST00000336273.3	37	CCDS6274.1	.	.	.	.	.	.	.	.	.	.	A	10.79	1.450721	0.26074	.	.	ENSG00000147649	ENST00000336273;ENST00000519934;ENST00000521933	T;T	0.45276	0.9;0.9	5.17	3.92	0.45320	.	0.306284	0.36591	N	0.002503	T	0.27629	0.0679	L	0.36672	1.1	0.33355	D	0.5716	P	0.36535	0.557	B	0.34242	0.178	T	0.39231	-0.9624	10	0.42905	T	0.14	-6.6763	5.262	0.15578	0.6044:0.1542:0.0:0.2413	.	422	Q86UE4	LYRIC_HUMAN	G	422;366;92	ENSP00000338235:D422G;ENSP00000428168:D366G	ENSP00000338235:D422G	D	+	2	0	MTDH	98788147	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.455000	0.44988	2.252000	0.74401	0.533000	0.62120	GAT		0.468	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379772.2		
ATAD2	29028	hgsc.bcm.edu	37	8	124357199	124357200	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	TA	TA	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr8:124357199_124357200delTA	ENST00000287394.5	-	19	2749_2750	c.2642_2643delTA	c.(2641-2643)ttafs	p.L881fs	ATAD2_ENST00000521903.1_Frame_Shift_Del_p.L199fs|RNU6-875P_ENST00000516488.1_RNA	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	881					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L881fs*16(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GAATATTCTGTAATAATGTGGT	0.416																																					p.881_881del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.2642_2643del	8						.																																			124426381	SO:0001589	frameshift_variant	29028	exon19			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.2642_2643delTA	8.37:g.124357199_124357200delTA	ENSP00000287394:p.Leu881fs	Somatic		Capture	SOLID	Phase_I	124426380	NM_014109	Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Frame_Shift_Del	DEL	ENST00000287394.5	37	CCDS6343.1																																																																																				0.416	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109	
DENND3	22898	hgsc.bcm.edu	37	8	142178146	142178146	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr8:142178146C>T	ENST00000262585.2	+	13	1835	c.1557C>T	c.(1555-1557)ccC>ccT	p.P519P	DENND3_ENST00000519811.1_Silent_p.P599P|DENND3_ENST00000424248.1_Silent_p.P467P	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	519					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.P519P(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TCAAGATTCCCGAAATCCACT	0.507																																					p.P519P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1557T	8						.						117.0	115.0	116.0					8																	142178146		2203	4300	6503	142247328	SO:0001819	synonymous_variant	22898	exon13			AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.1557C>T	8.37:g.142178146C>T		Somatic		Capture	SOLID	Phase_I	142247328	NM_014957	B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Silent	SNP	ENST00000262585.2	37	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	C	3.870	-0.028128	0.07589	.	.	ENSG00000105339	ENST00000518668	.	.	.	5.25	-10.5	0.00291	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.6875	2.4115	0.04426	0.3786:0.3003:0.1874:0.1337	.	.	.	.	X	524	.	.	R	+	1	2	DENND3	142247328	0.030000	0.19436	0.019000	0.16419	0.527000	0.34593	-0.747000	0.04823	-4.045000	0.00079	-0.410000	0.06199	CGA		0.507	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957	
AGL	178	hgsc.bcm.edu	37	1	100366212	100366212	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:100366212C>T	ENST00000294724.4	+	26	3861	c.3383C>T	c.(3382-3384)gCg>gTg	p.A1128V	AGL_ENST00000370163.3_Missense_Mutation_p.A1128V|AGL_ENST00000361302.3_Missense_Mutation_p.A1112V|AGL_ENST00000370165.3_Missense_Mutation_p.A1128V|AGL_ENST00000361915.3_Missense_Mutation_p.A1128V|AGL_ENST00000361522.4_Missense_Mutation_p.A1111V|AGL_ENST00000370161.2_Missense_Mutation_p.A1112V	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1128					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)	p.A1128V(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TTAGCATTTGCGGGTACCCTG	0.393																																					p.A1111V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3332T	1						.						199.0	196.0	197.0					1																	100366212		2203	4300	6503	100138800	SO:0001583	missense	178	exon24			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.3383C>T	1.37:g.100366212C>T	ENSP00000294724:p.Ala1128Val	Somatic		Capture	SOLID	Phase_I	100138800	NM_000645	A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	CCDS759.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345650	0.82022	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58	5.75	4.82	0.62117	Six-hairpin glycosidase-like (1);	0.103999	0.64402	D	0.000003	D	0.84556	0.5498	M	0.90977	3.165	0.52099	D	0.999943	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.70016	0.959;0.959;0.967	D	0.89056	0.3459	10	0.87932	D	0	.	16.8261	0.85931	0.0:0.6757:0.3243:0.0	.	1111;1112;1128	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	V	1128;1128;1128;1128;1112;1112;1111	ENSP00000355106:A1128V;ENSP00000359184:A1128V;ENSP00000359182:A1128V;ENSP00000294724:A1128V;ENSP00000354971:A1112V;ENSP00000359180:A1112V;ENSP00000354635:A1111V	ENSP00000294724:A1128V	A	+	2	0	AGL	100138800	1.000000	0.71417	0.933000	0.37362	0.902000	0.53008	2.519000	0.45546	1.393000	0.46605	0.650000	0.86243	GCG		0.393	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028	
CASZ1	54897	hgsc.bcm.edu	37	1	10715789	10715789	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:10715789G>A	ENST00000377022.3	-	9	1899	c.1582C>T	c.(1582-1584)Cgt>Tgt	p.R528C	CASZ1_ENST00000344008.5_Missense_Mutation_p.R528C|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	528					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R528C(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGGCTGAAACGCATGAAGCCG	0.607																																					p.R528C												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C1582T	1						.						226.0	164.0	185.0					1																	10715789		2203	4300	6503	10638376	SO:0001583	missense	54897	exon9			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1582C>T	1.37:g.10715789G>A	ENSP00000366221:p.Arg528Cys	Somatic		Capture	SOLID	Phase_I	10638376	NM_001079843	Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.712953	0.89112	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.74435	0.3716	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.76955	-0.2767	9	0.87932	D	0	-30.5517	12.9889	0.58608	0.0:0.0:0.8383:0.1617	.	552;528;528	B7Z1S3;Q86V15-2;Q86V15	.;.;CASZ1_HUMAN	C	528	.	ENSP00000339445:R528C	R	-	1	0	CASZ1	10638376	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.295000	0.78780	2.409000	0.81822	0.561000	0.74099	CGT		0.607	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766	
COL11A1	1301	hgsc.bcm.edu	37	1	103354142	103354142	+	Silent	SNP	A	A	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:103354142A>T	ENST00000370096.3	-	62	4911	c.4599T>A	c.(4597-4599)ccT>ccA	p.P1533P	COL11A1_ENST00000512756.1_Silent_p.P1417P|COL11A1_ENST00000358392.2_Silent_p.P1545P|COL11A1_ENST00000353414.4_Silent_p.P1494P	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1533	Collagen-like 8.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.P1545P(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTGGAGACCCAGGAGGCCCTG	0.423																																					p.P1533P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T4599A	1						.						62.0	67.0	65.0					1																	103354142		2203	4300	6503	103126730	SO:0001819	synonymous_variant	1301	exon62			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4599T>A	1.37:g.103354142A>T		Somatic		Capture	SOLID	Phase_I	103126730	NM_001854	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	CCDS778.1																																																																																				0.423	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	
STRIP1	85369	hgsc.bcm.edu	37	1	110584363	110584363	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:110584363G>A	ENST00000369795.3	+	8	787	c.765G>A	c.(763-765)ccG>ccA	p.P255P	STRIP1_ENST00000369796.1_Silent_p.P160P	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	255					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.P255P(1)									CAGGCTCCCCGCTGTACAACA	0.552																																					p.P255P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G765A	1						.						165.0	149.0	155.0					1																	110584363		2203	4300	6503	110385886	SO:0001819	synonymous_variant	85369	exon8			AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog A (yeast)"""		"""family with sequence similarity 40, member A"""	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.765G>A	1.37:g.110584363G>A		Somatic		Capture	SOLID	Phase_I	110385886	NM_033088	Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Silent	SNP	ENST00000369795.3	37	CCDS30798.1																																																																																				0.552	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032213.1	NM_033088	
LRIF1	55791	hgsc.bcm.edu	37	1	111494728	111494728	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:111494728G>A	ENST00000369763.4	-	2	1168	c.778C>T	c.(778-780)Cca>Tca	p.P260S	LRIF1_ENST00000494675.1_Intron|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	260					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)		p.P260S(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						AGTATTACTGGCTTTGCTATT	0.358																																					p.P260S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C778T	1						.						147.0	145.0	145.0					1																	111494728		2203	4300	6503	111296251	SO:0001583	missense	55791	exon2			AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.778C>T	1.37:g.111494728G>A	ENSP00000358778:p.Pro260Ser	Somatic		Capture	SOLID	Phase_I	111296251	NM_018372	Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	ENST00000369763.4	37	CCDS30800.1	.	.	.	.	.	.	.	.	.	.	G	9.842	1.191187	0.21954	.	.	ENSG00000121931	ENST00000369763	T	0.20200	2.09	5.41	2.02	0.26589	.	0.231906	0.35320	N	0.003283	T	0.02533	0.0077	N	0.08118	0	0.80722	D	1	B	0.23937	0.094	B	0.23275	0.045	T	0.29088	-1.0023	10	0.12766	T	0.61	-2.3718	4.3368	0.11090	0.095:0.1571:0.5864:0.1615	.	260	Q5T3J3	LRIF1_HUMAN	S	260	ENSP00000358778:P260S	ENSP00000358778:P260S	P	-	1	0	LRIF1	111296251	0.983000	0.35010	1.000000	0.80357	0.953000	0.61014	0.804000	0.27098	1.236000	0.43740	0.591000	0.81541	CCA		0.358	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372	
PPM1J	333926	hgsc.bcm.edu	37	1	113253654	113253654	+	Silent	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:113253654A>G	ENST00000309276.6	-	7	1261	c.1086T>C	c.(1084-1086)ccT>ccC	p.P362P	PPM1J_ENST00000359994.4_Silent_p.P156P|RP11-426L16.10_ENST00000471038.2_Intron|PPM1J_ENST00000464951.1_Silent_p.P156P|RP11-426L16.10_ENST00000606505.1_Missense_Mutation_p.S44P	NM_005167.5	NP_005158.5	Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	362	PP2C-like.				protein dephosphorylation (GO:0006470)		protein serine/threonine phosphatase activity (GO:0004722)	p.P362P(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACAGACCAGAGGAAACCTGA	0.572																																					p.P362P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1086C	1						.						288.0	305.0	300.0					1																	113253654		2203	4300	6503	113055177	SO:0001819	synonymous_variant	333926	exon7			AK093270	CCDS855.2	1p13.1	2012-04-17	2010-03-05		ENSG00000155367	ENSG00000155367	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	20785	protein-coding gene	gene with protein product	"""protein phosphatase 2C zeta"""	609957	"""protein phosphatase 1J (PP2C domain containing)"""			12633878	Standard	NM_005167		Approved	FLJ35951, MGC19531, DKFZp434P1514, PP2Czeta, PPP2CZ	uc001ect.1	Q5JR12	OTTHUMG00000012019	ENST00000309276.6:c.1086T>C	1.37:g.113253654A>G		Somatic		Capture	SOLID	Phase_I	113055177	NM_005167	B3KSB7|Q6DKJ7|Q96EZ7|Q9UF84	Silent	SNP	ENST00000309276.6	37	CCDS855.2																																																																																				0.572	PPM1J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033251.1	NM_005167	
SYT6	148281	hgsc.bcm.edu	37	1	114641766	114641766	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:114641766C>T	ENST00000610222.1	-	5	1460	c.1314G>A	c.(1312-1314)ccG>ccA	p.P438P	SYT6_ENST00000607941.1_Silent_p.P353P|SYT6_ENST00000609117.1_Silent_p.P353P|SYT6_ENST00000393296.1_Silent_p.P438P|SYT6_ENST00000369547.1_Silent_p.P353P			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	438	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)	p.P353P(1)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCATGTTTTCCGGGGGAATGT	0.483																																					p.P353P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1059A	1						.						268.0	210.0	230.0					1																	114641766		2203	4300	6503	114443289	SO:0001819	synonymous_variant	148281	exon5				CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.1314G>A	1.37:g.114641766C>T		Somatic		Capture	SOLID	Phase_I	114443289	NM_205848	B1AMB8|B3KPK1	Silent	SNP	ENST00000610222.1	37																																																																																					0.483	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848	
AMPD1	270	hgsc.bcm.edu	37	1	115220083	115220083	+	Missense_Mutation	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:115220083A>G	ENST00000520113.2	-	10	1391	c.1376T>C	c.(1375-1377)cTg>cCg	p.L459P	AMPD1_ENST00000353928.6_Missense_Mutation_p.L426P|AMPD1_ENST00000369538.3_Missense_Mutation_p.L455P			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	459					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)	p.L426P(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	ATAGATGGACAGGCGGGGCTC	0.567																																					p.L459P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1376C	1						.						100.0	85.0	90.0					1																	115220083		2203	4300	6503	115021606	SO:0001583	missense	270	exon10			M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.1376T>C	1.37:g.115220083A>G	ENSP00000430075:p.Leu459Pro	Somatic		Capture	SOLID	Phase_I	115021606	NM_000036	A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	CCDS876.2	.	.	.	.	.	.	.	.	.	.	A	26.9	4.781078	0.90282	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.83673	-1.75;-1.75;-1.75	5.85	5.85	0.93711	Adenosine/AMP deaminase (1);	0.000000	0.85682	D	0.000000	D	0.92619	0.7655	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	0.94425	0.7644	10	0.87932	D	0	-13.0897	16.2483	0.82460	1.0:0.0:0.0:0.0	.	455;426	Q5TF02;P23109	.;AMPD1_HUMAN	P	459;455;426	ENSP00000430075:L459P;ENSP00000358551:L455P;ENSP00000316520:L426P	ENSP00000316520:L426P	L	-	2	0	AMPD1	115021606	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.237000	0.73441	0.459000	0.35465	CTG		0.567	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4		
ATP1A1	476	hgsc.bcm.edu	37	1	116932065	116932065	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:116932065C>T	ENST00000295598.5	+	8	1011	c.759C>T	c.(757-759)acC>acT	p.T253T	ATP1A1_ENST00000369496.4_Silent_p.T222T|ATP1A1_ENST00000491156.1_3'UTR|ATP1A1_ENST00000537345.1_Silent_p.T253T	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	253					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.T253T(3)		NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	TTTAAGGCACCGCACGTGGTA	0.473																																					p.T253T												.	.	3	Substitution - coding silent(3)	large_intestine(2)|lung(1)	c.C759T	1						.						196.0	187.0	190.0					1																	116932065		2203	4300	6503	116733588	SO:0001819	synonymous_variant	476	exon8			D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.759C>T	1.37:g.116932065C>T		Somatic		Capture	SOLID	Phase_I	116733588	NM_000701	B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Silent	SNP	ENST00000295598.5	37	CCDS887.1																																																																																				0.473	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233	
IGSF3	3321	hgsc.bcm.edu	37	1	117122419	117122419	+	Missense_Mutation	SNP	C	C	T	rs141747938		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:117122419C>T	ENST00000369486.3	-	10	3694	c.2929G>A	c.(2929-2931)Gtg>Atg	p.V977M	IGSF3_ENST00000369483.1_Missense_Mutation_p.V997M|IGSF3_ENST00000318837.6_Missense_Mutation_p.V997M	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	977	Ig-like C2-type 8.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.V977M(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GAGCGGGACACGATGCTACAG	0.597																																					p.V997M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2989A	1						.	C	MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	38.0	36.0	37.0		2929,2989	2.6	1.0	1	dbSNP_134	37	0,8600		0,0,4300	no	missense,missense	IGSF3	NM_001007237.1,NM_001542.2	21,21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	977/1195,997/1215	117122419	1,13005	2203	4300	6503	116923942	SO:0001583	missense	3321	exon11			AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.2929G>A	1.37:g.117122419C>T	ENSP00000358498:p.Val977Met	Somatic		Capture	SOLID	Phase_I	116923942	NM_001542	A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.207030	0.39003	2.27E-4	0.0	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.22336	1.96;1.96;1.96	4.67	2.57	0.30868	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.715012	0.13582	N	0.377247	T	0.02688	0.0081	N	0.08118	0	0.23346	N	0.997863	B;P	0.40834	0.377;0.73	B;B	0.30495	0.052;0.116	T	0.30357	-0.9981	10	0.41790	T	0.15	-15.0297	7.0151	0.24883	0.1879:0.4666:0.3455:0.0	.	977;997	O75054;A6NJZ6	IGSF3_HUMAN;.	M	977;997;997	ENSP00000358498:V977M;ENSP00000358495:V997M;ENSP00000321184:V997M	ENSP00000321184:V997M	V	-	1	0	IGSF3	116923942	0.995000	0.38212	0.995000	0.50966	0.982000	0.71751	2.352000	0.44080	1.144000	0.42321	0.462000	0.41574	GTG		0.597	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542	
TRIM45	80263	hgsc.bcm.edu	37	1	117659291	117659291	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:117659291G>A	ENST00000256649.4	-	3	1825	c.1299C>T	c.(1297-1299)ggC>ggT	p.G433G	TRIM45_ENST00000369464.3_Silent_p.G415G|TRIM45_ENST00000369461.3_Silent_p.G376G	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	433					bone development (GO:0060348)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.G433G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		CTCCTCCCCTGCCCATGATTT	0.483																																					p.G415G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1245T	1						.						90.0	85.0	87.0					1																	117659291		2203	4300	6503	117460814	SO:0001819	synonymous_variant	80263	exon3				CCDS893.1, CCDS44200.1	1p13.1	2011-04-20	2011-01-25		ENSG00000134253	ENSG00000134253		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19018	protein-coding gene	gene with protein product		609318	"""tripartite motif-containing 45"""			15351693	Standard	NM_025188		Approved	FLJ13181, RNF99	uc001egz.2	Q9H8W5	OTTHUMG00000012119	ENST00000256649.4:c.1299C>T	1.37:g.117659291G>A		Somatic		Capture	SOLID	Phase_I	117460814	NM_001145635	Q53GN0|Q5T2K4|Q5T2K5|Q8IYV6	Silent	SNP	ENST00000256649.4	37	CCDS893.1																																																																																				0.483	TRIM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033503.1	NM_025188	
TBX15	6913	hgsc.bcm.edu	37	1	119427487	119427487	+	Silent	SNP	C	C	T	rs150366466		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:119427487C>T	ENST00000369429.3	-	8	1686	c.1677G>A	c.(1675-1677)ccG>ccA	p.P559P	TBX15_ENST00000207157.3_Silent_p.P453P			Q96SF7	TBX15_HUMAN	T-box 15	559					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.P453P(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CCATCCCTGACGGCAGGTACT	0.547																																					p.P453P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1359A	1						.	C		0,4406		0,0,2203	87.0	80.0	82.0		1359	-5.9	0.0	1	dbSNP_134	82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TBX15	NM_152380.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		453/497	119427487	1,13005	2203	4300	6503	119229010	SO:0001819	synonymous_variant	6913	exon8			AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"""T-boxes"""	11594	protein-coding gene	gene with protein product		604127	"""T-box 14"""	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.1677G>A	1.37:g.119427487C>T		Somatic		Capture	SOLID	Phase_I	119229010	NM_152380	Q08E76|Q5JT54|Q5T9S7	Silent	SNP	ENST00000369429.3	37																																																																																					0.547	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	NM_152380	
VPS13D	55187	hgsc.bcm.edu	37	1	12333109	12333109	+	Missense_Mutation	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:12333109T>C	ENST00000358136.3	+	18	2283	c.2153T>C	c.(2152-2154)gTg>gCg	p.V718A	VPS13D_ENST00000356315.4_Missense_Mutation_p.V718A	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.V718A(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GCCCCTCAGGTGATATTTCCT	0.433																																					p.V718A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2153C	1						.						153.0	144.0	147.0					1																	12333109		2203	4300	6503	12255696	SO:0001583	missense	55187	exon18			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.2153T>C	1.37:g.12333109T>C	ENSP00000350854:p.Val718Ala	Somatic		Capture	SOLID	Phase_I	12255696	NM_018156		Missense_Mutation	SNP	ENST00000358136.3	37	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.835792	0.91117	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.56103	0.48;0.49	5.16	5.16	0.70880	.	0.067287	0.64402	D	0.000017	T	0.62684	0.2448	L	0.51422	1.61	0.80722	D	1	D;D	0.61697	0.99;0.983	P;P	0.57620	0.824;0.672	T	0.66870	-0.5814	10	0.87932	D	0	.	15.0014	0.71476	0.0:0.0:0.0:1.0	.	718;718	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	A	718	ENSP00000348666:V718A;ENSP00000350854:V718A	ENSP00000348666:V718A	V	+	2	0	VPS13D	12255696	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	7.651000	0.83577	1.929000	0.55896	0.477000	0.44152	GTG		0.433	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378	
PRDM2	7799	hgsc.bcm.edu	37	1	14106291	14106291	+	Silent	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:14106291T>C	ENST00000235372.7	+	8	2857	c.2001T>C	c.(1999-2001)ctT>ctC	p.L667L	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Silent_p.L667L|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Silent_p.L466L|PRDM2_ENST00000343137.4_Silent_p.L466L|PRDM2_ENST00000505823.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	667					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.L667L(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CTTTAAGTCTTCCTCTTAGCA	0.458																																					p.L466L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1398C	1						.						110.0	105.0	107.0					1																	14106291		2203	4300	6503	13978878	SO:0001819	synonymous_variant	7799	exon3			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.2001T>C	1.37:g.14106291T>C		Somatic		Capture	SOLID	Phase_I	13978878	NM_001007257	B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent	SNP	ENST00000235372.7	37	CCDS150.1																																																																																				0.458	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231	
NOTCH2	4853	hgsc.bcm.edu	37	1	120572547	120572547	+	Missense_Mutation	SNP	T	T	C	rs61788900		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:120572547T>C	ENST00000256646.2	-	2	356	c.137A>G	c.(136-138)aAt>aGt	p.N46S	NOTCH2_ENST00000602566.1_Missense_Mutation_p.N7S	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	46	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTGTGCCATTGTGGTAGGT	0.348			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																												p.N46S			Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	.	.	0			c.A137G	1						.						3.0	3.0	3.0					1																	120572547		1347	3133	4480	120374070	SO:0001583	missense	4853	exon2	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.137A>G	1.37:g.120572547T>C	ENSP00000256646:p.Asn46Ser	Somatic		Capture	SOLID	Phase_I	120374070	NM_024408	Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	CCDS908.1	.	.	.	.	.	.	.	.	.	.	T	13.31	2.198832	0.38806	.	.	ENSG00000134250	ENST00000256646;ENST00000539617;ENST00000401649;ENST00000369342	T	0.63255	-0.03	5.05	5.05	0.67936	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.36778	U	0.002411	T	0.43366	0.1244	L	0.33093	0.98	0.22873	P	0.9986204	B;P	0.40332	0.01;0.713	B;P	0.51742	0.005;0.678	T	0.42766	-0.9432	9	0.07813	T	0.8	.	11.2333	0.48925	0.0:0.0:0.0:1.0	.	46;46	Q6IQ50;Q04721	.;NOTC2_HUMAN	S	46;7;19;7	ENSP00000256646:N46S	ENSP00000256646:N46S	N	-	2	0	NOTCH2	120374070	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.968000	0.56809	1.904000	0.55121	0.477000	0.44152	AAT		0.348	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408	
PDE4DIP	9659	hgsc.bcm.edu	37	1	144859982	144859982	+	Silent	SNP	G	G	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:144859982G>T	ENST00000369354.3	-	38	6291	c.6102C>A	c.(6100-6102)gcC>gcA	p.A2034A	PDE4DIP_ENST00000369359.4_Silent_p.A2170A|PDE4DIP_ENST00000369356.4_Silent_p.A2034A|PDE4DIP_ENST00000313382.9_Silent_p.A1928A|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000530740.1_Silent_p.A2119A|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2034					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.A2034A(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTTGGTGACAGGCATCCAGGC	0.522			T	PDGFRB	MPD																																p.A1928A			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5784A	1						.						116.0	111.0	112.0					1																	144859982		2203	4296	6499	143571339	SO:0001819	synonymous_variant	9659	exon40			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6102C>A	1.37:g.144859982G>T		Somatic		Capture	SOLID	Phase_I	143571339	NM_001198832	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	CCDS30824.1																																																																																				0.522	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359	
PDE4DIP	9659	hgsc.bcm.edu	37	1	144881458	144881458	+	Silent	SNP	G	G	A	rs150932980	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:144881458G>A	ENST00000369354.3	-	25	3927	c.3738C>T	c.(3736-3738)aaC>aaT	p.N1246N	PDE4DIP_ENST00000369359.4_Silent_p.N1383N|PDE4DIP_ENST00000369356.4_Silent_p.N1246N|PDE4DIP_ENST00000313382.9_Silent_p.N1202N|PDE4DIP_ENST00000530740.1_Silent_p.N1383N|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1246					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.N1246N(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCTCCAGCTCGTTAGCCTGAG	0.433			T	PDGFRB	MPD								.|||	3	0.000599042	0.0015	0.0	5008	,	,		43226	0.0		0.0	False		,,,				2504	0.001				p.N1202N			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3606T	1						.	G	,,	2,4404	6.2+/-15.9	0,2,2201	183.0	175.0	178.0		3606,3738,3738	1.1	1.0	1	dbSNP_134	178	1,8591	2.2+/-6.3	0,1,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	PDE4DIP	NM_001198832.1,NM_001198834.2,NM_014644.4	,,	0,3,6496	AA,AG,GG		0.0116,0.0454,0.0231	,,	1202/2241,1246/2363,1246/2347	144881458	3,12995	2203	4296	6499	143592815	SO:0001819	synonymous_variant	9659	exon28			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3738C>T	1.37:g.144881458G>A		Somatic		Capture	SOLID	Phase_I	143592815	NM_001198832	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	g	1.259	-0.616290	0.03663	4.54E-4	1.16E-4	ENSG00000178104	ENST00000530592	.	.	.	6.06	1.09	0.20402	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3547	0.43956	0.3579:0.0:0.6421:0.0	.	.	.	.	X	141	.	.	R	-	1	2	PDE4DIP	143592815	0.852000	0.29690	0.970000	0.41538	0.083000	0.17756	-0.104000	0.10923	-0.037000	0.13646	-0.940000	0.02684	CGA		0.433	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359	
PDE4DIP	9659	hgsc.bcm.edu	37	1	144912154	144912154	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:144912154G>A	ENST00000369354.3	-	15	2310	c.2121C>T	c.(2119-2121)ggC>ggT	p.G707G	PDE4DIP_ENST00000369359.4_Silent_p.G844G|PDE4DIP_ENST00000369356.4_Silent_p.G707G|PDE4DIP_ENST00000313382.9_Silent_p.G773G|PDE4DIP_ENST00000369351.3_Silent_p.G707G|PDE4DIP_ENST00000313431.9_Silent_p.G870G|PDE4DIP_ENST00000529945.1_Silent_p.G870G|PDE4DIP_ENST00000479408.2_Silent_p.G494G|PDE4DIP_ENST00000369349.3_Silent_p.G707G|PDE4DIP_ENST00000530740.1_Silent_p.G844G|PDE4DIP_ENST00000524974.1_5'Flank			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	707					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.G870G(1)|p.G707G(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTCCAAGACAGCCAGTGGGGG	0.408			T	PDGFRB	MPD																																p.G773G			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2319T	1						.						104.0	112.0	109.0					1																	144912154		2203	4300	6503	143623511	SO:0001819	synonymous_variant	9659	exon18			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.2121C>T	1.37:g.144912154G>A		Somatic		Capture	SOLID	Phase_I	143623511	NM_001198832	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	CCDS30824.1																																																																																				0.408	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359	
ITGA10	8515	hgsc.bcm.edu	37	1	145532136	145532136	+	Silent	SNP	C	C	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:145532136C>A	ENST00000369304.3	+	8	955	c.780C>A	c.(778-780)tcC>tcA	p.S260S	ITGA10_ENST00000538811.1_Silent_p.S129S|ITGA10_ENST00000539363.1_Silent_p.S117S|ITGA10_ENST00000481236.1_3'UTR	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	260	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)	p.S260S(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCAGTCAGTCCCATGGGGGCC	0.547																																					p.S260S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C780A	1						.						94.0	93.0	93.0					1																	145532136		2203	4300	6503	144243493	SO:0001819	synonymous_variant	8515	exon8			AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.780C>A	1.37:g.145532136C>A		Somatic		Capture	SOLID	Phase_I	144243493	NM_003637	B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Silent	SNP	ENST00000369304.3	37	CCDS918.1																																																																																				0.547	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637	
POLR3C	10623	hgsc.bcm.edu	37	1	145601603	145601603	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:145601603C>T	ENST00000334163.3	-	7	963	c.803G>A	c.(802-804)cGa>cAa	p.R268Q	POLR3C_ENST00000369294.1_Missense_Mutation_p.R268Q|POLR3C_ENST00000471254.1_5'UTR	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	268					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.R268Q(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			GAGCATGGTTCGCACAATCTC	0.448																																					p.R268Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G803A	1						.						178.0	162.0	168.0					1																	145601603		2203	4300	6503	144312960	SO:0001583	missense	10623	exon7			AJ238234	CCDS72864.1	1q21	2013-01-21			ENSG00000186141	ENSG00000186141		"""RNA polymerase subunits"""	30076	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006468		Approved	RPC62, RPC3	uc001eoh.3	Q9BUI4	OTTHUMG00000013753	ENST00000334163.3:c.803G>A	1.37:g.145601603C>T	ENSP00000334564:p.Arg268Gln	Somatic		Capture	SOLID	Phase_I	144312960	NM_006468	O15317|Q9Y3R6	Missense_Mutation	SNP	ENST00000334163.3	37	CCDS921.1	.	.	.	.	.	.	.	.	.	.	C	32	5.141992	0.94560	.	.	ENSG00000186141	ENST00000334163;ENST00000369294	T;T	0.47869	0.83;0.83	5.79	4.87	0.63330	RNA polymerase III Rpc82, C -terminal (1);	0.000000	0.85682	D	0.000000	T	0.47078	0.1426	L	0.56769	1.78	0.54753	D	0.999988	D;D;D	0.64830	0.994;0.968;0.988	P;P;P	0.54664	0.493;0.619;0.758	T	0.40270	-0.9572	10	0.44086	T	0.13	-16.2475	13.1249	0.59349	0.0:0.9204:0.0:0.0796	.	268;268;268	E9PHH9;Q9BUI4;Q53F76	.;RPC3_HUMAN;.	Q	268	ENSP00000334564:R268Q;ENSP00000358300:R268Q	ENSP00000334564:R268Q	R	-	2	0	POLR3C	144312960	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.706000	0.68362	2.728000	0.93425	0.561000	0.74099	CGA		0.448	POLR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038542.1	NM_006468	
MTMR11	10903	hgsc.bcm.edu	37	1	149906941	149906941	+	Nonsense_Mutation	SNP	G	G	A	rs140523932	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:149906941G>A	ENST00000439741.2	-	5	656	c.406C>T	c.(406-408)Cga>Tga	p.R136*	MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Nonsense_Mutation_p.R136*|MTMR11_ENST00000406732.3_Nonsense_Mutation_p.R108*|MTMR11_ENST00000369140.3_Nonsense_Mutation_p.R64*	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	136							phosphatase activity (GO:0016791)	p.R64*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CGGAAGTCTCGGCCATGAATC	0.547																																					p.R64X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C190T	1						.						50.0	54.0	52.0					1																	149906941		2203	4300	6503	148173565	SO:0001587	stop_gained	10903	exon4			AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.406C>T	1.37:g.149906941G>A	ENSP00000391668:p.Arg136*	Somatic		Capture	SOLID	Phase_I	148173565	NM_181873	B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Nonsense_Mutation	SNP	ENST00000439741.2	37	CCDS53360.1	.	.	.	.	.	.	.	.	.	.	G	37	6.284601	0.97440	.	.	ENSG00000014914	ENST00000369140;ENST00000439741;ENST00000361405;ENST00000406732	.	.	.	5.37	2.38	0.29361	.	0.163093	0.38436	N	0.001687	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4968	0.55933	0.0:0.0:0.4275:0.5725	.	.	.	.	X	64;136;136;108	.	.	R	-	1	2	MTMR11	148173565	1.000000	0.71417	0.995000	0.50966	0.963000	0.63663	0.339000	0.19875	0.339000	0.23719	0.650000	0.86243	CGA		0.547	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873	
TARS2	80222	hgsc.bcm.edu	37	1	150463885	150463885	+	Silent	SNP	A	A	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:150463885A>C	ENST00000369064.3	+	5	562	c.528A>C	c.(526-528)tcA>tcC	p.S176S	TARS2_ENST00000438568.2_Silent_p.R135R|TARS2_ENST00000369054.2_Silent_p.S176S|TARS2_ENST00000606933.1_Silent_p.S176S	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	176					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.S176S(1)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	TCCGGGGCTCAGAGCTGCCTG	0.552																																					p.S176S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A528C	1						.						94.0	88.0	90.0					1																	150463885		2203	4300	6503	148730509	SO:0001819	synonymous_variant	80222	exon5			BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.528A>C	1.37:g.150463885A>C		Somatic		Capture	SOLID	Phase_I	148730509	NM_025150	Q53GW7|Q96I50|Q9H9V2	Silent	SNP	ENST00000369064.3	37	CCDS952.1																																																																																				0.552	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150	
ANXA9	8416	hgsc.bcm.edu	37	1	150956843	150956843	+	Silent	SNP	C	C	T	rs150030788		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:150956843C>T	ENST00000368947.4	+	6	830	c.354C>T	c.(352-354)gaC>gaT	p.D118D	ANXA9_ENST00000474997.1_3'UTR	NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	118					single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	acetylcholine receptor activity (GO:0015464)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)	p.D118D(1)		endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCCAGTTTGACGCCCAGGAAT	0.552													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17884	0.0		0.0	False		,,,				2504	0.0				p.D118D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C354T	1						.	C		3,4403	6.2+/-15.9	0,3,2200	96.0	90.0	92.0		354	1.3	1.0	1	dbSNP_134	92	0,8600		0,0,4300	no	coding-synonymous	ANXA9	NM_003568.2		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		118/346	150956843	3,13003	2203	4300	6503	149223467	SO:0001819	synonymous_variant	8416	exon6			AJ009985	CCDS975.2	1q21.2	2008-02-05			ENSG00000143412	ENSG00000143412		"""Annexins"""	547	protein-coding gene	gene with protein product		603319		ANX31		9742942, 9931420	Standard	NM_003568		Approved		uc001ewa.2	O76027	OTTHUMG00000035063	ENST00000368947.4:c.354C>T	1.37:g.150956843C>T		Somatic		Capture	SOLID	Phase_I	149223467	NM_003568	Q5SZF1|Q6FI55|Q9BS00|Q9HBJ6	Silent	SNP	ENST00000368947.4	37	CCDS975.2																																																																																				0.552	ANXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084895.2	NM_003568	
CELF3	11189	hgsc.bcm.edu	37	1	151687080	151687080	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:151687080G>A	ENST00000290583.4	-	2	1011	c.218C>T	c.(217-219)aCg>aTg	p.T73M	CELF3_ENST00000290585.4_Missense_Mutation_p.T73M|AL589765.1_ENST00000442233.2_Intron|RIIAD1_ENST00000326413.3_Intron	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	73	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.T73M(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						CCCTGGAAGCGTCTTCTGTTC	0.602																																					p.T73M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C218T	1						.						36.0	31.0	33.0					1																	151687080		2188	4267	6455	149953704	SO:0001583	missense	11189	exon2			U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"""Trinucleotide (CAG) repeat containing"", ""RNA binding motif (RRM) containing"""	11967	protein-coding gene	gene with protein product	"""expanded repeat domain, CAG/CTG 4"", ""CAG repeat domain"", ""CUG-BP and ETR-3 like factor 3"""	612678	"""trinucleotide repeat containing 4"""	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.218C>T	1.37:g.151687080G>A	ENSP00000290583:p.Thr73Met	Somatic		Capture	SOLID	Phase_I	149953704	NM_007185	B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Missense_Mutation	SNP	ENST00000290583.4	37	CCDS1002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	3.994740|3.994740	0.74703|0.74703	.|.	.|.	ENSG00000159409|ENSG00000159409	ENST00000420342|ENST00000290585;ENST00000290583;ENST00000368833	.|T;T	.|0.73789	.|-0.78;1.36	4.64|4.64	3.73|3.73	0.42828|0.42828	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|0.124055	.|0.53938	.|D	.|0.000059	T|T	0.76399|0.76399	0.3982|0.3982	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.996;0.999;1.0;1.0	.|P;D;D;D	.|0.71870	.|0.908;0.954;0.975;0.972	T|T	0.79505|0.79505	-0.1776|-0.1776	5|10	.|0.87932	.|D	.|0	-11.5238|-11.5238	10.5805|10.5805	0.45252|0.45252	0.0946:0.0:0.9054:0.0|0.0946:0.0:0.9054:0.0	.|.	.|73;73;73;73	.|Q5SZQ7;Q5SZQ8-2;Q5SZQ8;Q5SZQ8-3	.|.;.;CELF3_HUMAN;.	C|M	75|73	.|ENSP00000290585:T73M;ENSP00000290583:T73M	.|ENSP00000290583:T73M	R|T	-|-	1|2	0|0	CELF3|CELF3	149953704|149953704	1.000000|1.000000	0.71417|0.71417	0.904000|0.904000	0.35570|0.35570	0.924000|0.924000	0.55760|0.55760	9.235000|9.235000	0.95353|0.95353	1.176000|1.176000	0.42840|0.42840	0.563000|0.563000	0.77884|0.77884	CGC|ACG		0.602	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2	NM_007185	
C1orf43	25912	hgsc.bcm.edu	37	1	154186375	154186375	+	Missense_Mutation	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:154186375T>C	ENST00000368521.5	-	4	532	c.334A>G	c.(334-336)Acc>Gcc	p.T112A	C1orf43_ENST00000368518.1_Missense_Mutation_p.T112A|C1orf43_ENST00000362076.4_Intron|C1orf43_ENST00000368516.1_Missense_Mutation_p.T78A|C1orf43_ENST00000350592.3_Missense_Mutation_p.T78A|C1orf43_ENST00000368519.1_Intron	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	112						integral component of membrane (GO:0016021)	coenzyme binding (GO:0050662)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)	p.T78A(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					TTACCAGAGGTACGAATGGCA	0.453																																					p.T78A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A232G	1						.						152.0	143.0	146.0					1																	154186375		2203	4300	6503	152452999	SO:0001583	missense	25912	exon3			AF077036	CCDS1061.1, CCDS1062.1, CCDS41404.1, CCDS72924.1	1q21.2	2012-06-25			ENSG00000143612	ENSG00000143612			29876	protein-coding gene	gene with protein product						11042152, 11230159	Standard	XM_005245077		Approved	NICE-3, DKFZp586G1722	uc001fei.2	Q9BWL3	OTTHUMG00000035981	ENST00000368521.5:c.334A>G	1.37:g.154186375T>C	ENSP00000357507:p.Thr112Ala	Somatic		Capture	SOLID	Phase_I	152452999	NM_015449	A8K3G8|D3DV72|D3DV74|Q5M801|Q5VU73|Q5VU83|Q96HP7|Q9UFU2|Q9UGL7|Q9UGL8|Q9Y2R6	Missense_Mutation	SNP	ENST00000368521.5	37	CCDS41404.1	.	.	.	.	.	.	.	.	.	.	T	9.050	0.991804	0.18966	.	.	ENSG00000143612	ENST00000350592;ENST00000368521;ENST00000368518;ENST00000368516	.	.	.	5.24	4.28	0.50868	.	0.259145	0.43579	N	0.000541	T	0.04227	0.0117	N	0.03948	-0.315	0.23243	N	0.998059	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.39881	-0.9592	9	0.09338	T	0.73	-6.9849	7.3658	0.26772	0.0:0.8012:0.0:0.1988	.	112;78	Q9BWL3;Q09GN0	CA043_HUMAN;.	A	78;112;112;78	.	ENSP00000271925:T78A	T	-	1	0	C1orf43	152452999	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.664000	0.46783	1.443000	0.47586	-0.184000	0.12912	ACC		0.453	C1orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087664.2	NM_015449	
DCST2	127579	hgsc.bcm.edu	37	1	154996949	154996949	+	Splice_Site	SNP	G	G	A	rs373083804		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:154996949G>A	ENST00000368424.3	-	11	1799	c.1741C>T	c.(1741-1743)Cgg>Tgg	p.R581W	DCST2_ENST00000295536.5_Splice_Site_p.R581W	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	581						integral component of membrane (GO:0016021)		p.R581W(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGGCCTCACCGACTGGCCAGC	0.562																																					p.R581W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1741T	1						.						51.0	53.0	52.0					1																	154996949		2203	4300	6503	153263573	SO:0001630	splice_region_variant	127579	exon11			AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.1742+1C>T	1.37:g.154996949G>A		Somatic		Capture	SOLID	Phase_I	153263573	NM_144622	Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	ENST00000368424.3	37	CCDS1082.2	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066298	0.55539	.	.	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.29397	1.57;1.64	4.38	-2.86	0.05717	.	0.625623	0.12815	N	0.436873	T	0.07728	0.0194	L	0.45352	1.415	0.21064	N	0.999793	B	0.26445	0.149	B	0.17433	0.018	T	0.29058	-1.0024	10	0.72032	D	0.01	-11.7896	4.1488	0.10228	0.26:0.0:0.1977:0.5423	.	581	Q5T1A1	DCST2_HUMAN	W	581	ENSP00000357409:R581W;ENSP00000295536:R581W	ENSP00000295536:R581W	R	-	1	2	DCST2	153263573	0.001000	0.12720	0.069000	0.20011	0.892000	0.51952	-0.602000	0.05680	-0.275000	0.09219	0.462000	0.41574	CGG		0.562	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622	Missense_Mutation
ADAM15	8751	hgsc.bcm.edu	37	1	155030438	155030438	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:155030438G>A	ENST00000356955.2	+	14	1629	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K	ADAM15_ENST00000368413.1_Missense_Mutation_p.E216K|ADAM15_ENST00000447332.3_Missense_Mutation_p.E494K|ADAM15_ENST00000449910.2_Missense_Mutation_p.E510K|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000355956.2_Missense_Mutation_p.E510K|ADAM15_ENST00000531455.1_Missense_Mutation_p.E520K|ADAM15_ENST00000271836.6_Missense_Mutation_p.E510K|ADAM15_ENST00000360674.4_Missense_Mutation_p.E510K|ADAM15_ENST00000368412.3_Missense_Mutation_p.E510K|ADAM15_ENST00000359280.4_Missense_Mutation_p.E510K|ADAM15_ENST00000368410.2_Missense_Mutation_p.E216K	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	510	Cys-rich.				angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.E510K(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			AGGGGATGGCGAGCCCTGCGC	0.642																																					p.E510K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1528A	1						.						93.0	91.0	92.0					1																	155030438		2203	4300	6503	153297062	SO:0001583	missense	8751	exon14			U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"""ADAM metallopeptidase domain containing"""	193	protein-coding gene	gene with protein product	"""metargidin"""	605548	"""a disintegrin and metalloproteinase domain 15 (metargidin)"""			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.1528G>A	1.37:g.155030438G>A	ENSP00000349436:p.Glu510Lys	Somatic		Capture	SOLID	Phase_I	153297062	NM_207195	B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	ENST00000356955.2	37	CCDS1087.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300011	0.81136	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000368410;ENST00000271836;ENST00000368413;ENST00000531455	T;T;T;T;T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99	4.92	4.92	0.64577	ADAM, cysteine-rich (2);	0.350989	0.20519	N	0.090730	T	0.23649	0.0572	L	0.39245	1.2	0.58432	D	0.999996	D;D;D;P;P;D;D;P;P;D;D	0.60160	0.987;0.987;0.973;0.947;0.944;0.983;0.971;0.947;0.905;0.957;0.957	P;P;P;P;P;P;P;P;P;P;P	0.59012	0.806;0.806;0.703;0.706;0.637;0.767;0.767;0.767;0.535;0.85;0.85	T	0.00589	-1.1656	10	0.44086	T	0.13	.	15.7218	0.77718	0.0:0.0:1.0:0.0	.	520;527;494;510;510;510;510;510;510;510;507	E9PN65;B7Z390;B4DMH8;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444;Q59GF2	.;.;.;.;.;.;.;.;.;ADA15_HUMAN;.	K	510;510;510;510;510;510;216;510;216;520	ENSP00000349436:E510K;ENSP00000403843:E510K;ENSP00000352226:E510K;ENSP00000353892:E510K;ENSP00000357397:E510K;ENSP00000348227:E510K;ENSP00000357395:E216K;ENSP00000271836:E510K;ENSP00000357398:E216K;ENSP00000432927:E520K	ENSP00000271836:E510K	E	+	1	0	ADAM15	153297062	1.000000	0.71417	0.970000	0.41538	0.403000	0.30841	3.837000	0.55820	2.559000	0.86315	0.650000	0.86243	GAG		0.642	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1	NM_003815	
THBS3	7059	hgsc.bcm.edu	37	1	155172184	155172184	+	Silent	SNP	G	G	A	rs373996963		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:155172184G>A	ENST00000368378.3	-	9	986	c.966C>T	c.(964-966)caC>caT	p.H322H	RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000541576.1_5'Flank|RP11-263K19.4_ENST00000436772.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA|THBS3_ENST00000541990.1_De_novo_Start_OutOfFrame|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000457183.2_Silent_p.H202H|THBS3_ENST00000486260.1_5'UTR|RP11-263K19.4_ENST00000422665.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	322	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.H322H(1)		breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGGGGTCAGCGTGAGCACACT	0.622																																					p.H322H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C966T	1						.	G		0,4406		0,0,2203	76.0	76.0	76.0		966	-10.3	0.0	1		76	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	THBS3	NM_007112.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		322/957	155172184	1,13005	2203	4300	6503	153438808	SO:0001819	synonymous_variant	7059	exon9			L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.966C>T	1.37:g.155172184G>A		Somatic		Capture	SOLID	Phase_I	153438808	NM_007112	B1AVR8|B4DQ20|Q8WV34	Silent	SNP	ENST00000368378.3	37	CCDS1099.1																																																																																				0.622	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112	
FDPS	2224	hgsc.bcm.edu	37	1	155282171	155282171	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:155282171C>T	ENST00000356657.6	+	4	627	c.465C>T	c.(463-465)ggC>ggT	p.G155G	FDPS_ENST00000368356.4_Silent_p.G155G|FDPS_ENST00000487002.1_3'UTR|FDPS_ENST00000447866.1_Silent_p.G89G	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	155					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.G155G(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	GGACTGTGGGCTGGTGTGTGG	0.567																																					p.G155G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C465T	1						.						58.0	49.0	52.0					1																	155282171		2203	4300	6503	153548795	SO:0001819	synonymous_variant	2224	exon4			J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"""farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"""	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.465C>T	1.37:g.155282171C>T		Somatic		Capture	SOLID	Phase_I	153548795	NM_002004	D3DV91|E9PCI9|Q96G29	Silent	SNP	ENST00000356657.6	37	CCDS1110.1																																																																																				0.567	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039053.1	NM_002004	
MRPL24	79590	hgsc.bcm.edu	37	1	156708388	156708388	+	Missense_Mutation	SNP	G	G	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:156708388G>T	ENST00000361531.2	-	2	245	c.109C>A	c.(109-111)Cca>Aca	p.P37T	MRPL24_ENST00000478899.1_5'Flank|MRPL24_ENST00000368211.4_Missense_Mutation_p.P37T			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	37					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)	p.P37T(1)		endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGATCCATGGGGGGTTCTTC	0.592																																					p.P37T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C109A	1						.						70.0	74.0	73.0					1																	156708388		2203	4300	6503	154975012	SO:0001583	missense	79590	exon2			AB051341	CCDS1155.1	1q23.1	2012-11-14			ENSG00000143314	ENSG00000143314		"""Mitochondrial ribosomal proteins / large subunits"""	14037	protein-coding gene	gene with protein product		611836					Standard	NM_145729		Approved	MRP-L18	uc001fpx.1	Q96A35	OTTHUMG00000041296	ENST00000361531.2:c.109C>A	1.37:g.156708388G>T	ENSP00000354525:p.Pro37Thr	Somatic		Capture	SOLID	Phase_I	154975012	NM_145729	D3DVC8|Q53G65|Q53HT0|Q5SYZ9|Q5SZ00|Q5SZ02|Q96Q70|Q9H7G3	Missense_Mutation	SNP	ENST00000361531.2	37	CCDS1155.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394708	0.62066	.	.	ENSG00000143314	ENST00000361531;ENST00000368211;ENST00000434558;ENST00000412846;ENST00000420938	.	.	.	5.44	5.44	0.79542	Ribosomal protein L24, SH3-like (1);	0.000000	0.85682	D	0.000000	T	0.71576	0.3356	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.66084	0.941	T	0.73726	-0.3892	9	0.72032	D	0.01	-7.8949	17.1049	0.86659	0.0:0.0:1.0:0.0	.	37	Q96A35	RM24_HUMAN	T	37	.	ENSP00000354525:P37T	P	-	1	0	MRPL24	154975012	1.000000	0.71417	0.728000	0.30774	0.129000	0.20672	8.773000	0.91762	2.721000	0.93114	0.609000	0.83330	CCA		0.592	MRPL24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098955.1	NM_145729	
HDGF	3068	hgsc.bcm.edu	37	1	156714095	156714095	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:156714095C>T	ENST00000357325.5	-	4	663	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	HDGF_ENST00000368206.5_Missense_Mutation_p.E133K|HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000368209.5_Missense_Mutation_p.E110K|HDGF_ENST00000537739.1_Missense_Mutation_p.E117K|HDGF_ENST00000416666.2_Missense_Mutation_p.E85K	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	117	Glu-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription corepressor binding (GO:0001222)	p.E117K(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		TCTGCAGCTTCGGGCTCTGGT	0.592																																					p.E133K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G397A	1						.						385.0	354.0	365.0					1																	156714095		2203	4300	6503	154980719	SO:0001583	missense	3068	exon4			D16431	CCDS1156.1, CCDS44247.1, CCDS44248.1	1q23.1	2013-10-14	2010-03-19		ENSG00000143321	ENSG00000143321			4856	protein-coding gene	gene with protein product	"""high-mobility group protein 1-like"""	600339	"""hepatoma-derived growth factor (high-mobility group protein 1-like)"""			8833162	Standard	NM_004494		Approved	HMG1L2	uc001fpy.4	P51858	OTTHUMG00000041295	ENST00000357325.5:c.349G>A	1.37:g.156714095C>T	ENSP00000349878:p.Glu117Lys	Somatic		Capture	SOLID	Phase_I	154980719	NM_001126050	B3KU21|D3DVC9|Q5SZ07|Q5SZ08|Q5SZ09	Missense_Mutation	SNP	ENST00000357325.5	37	CCDS1156.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.272048	0.40194	.	.	ENSG00000143321	ENST00000357325;ENST00000368209;ENST00000537739;ENST00000416666;ENST00000368206;ENST00000406805	T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51	5.01	3.1	0.35709	.	0.454558	0.20985	U	0.082142	T	0.54255	0.1847	M	0.65498	2.005	0.21064	N	0.999797	B;D;P;B;D	0.67145	0.046;0.97;0.458;0.046;0.996	B;B;B;B;P	0.50490	0.007;0.265;0.062;0.004;0.642	T	0.46345	-0.9198	10	0.14656	T	0.56	-9.3477	8.0284	0.30451	0.0:0.7456:0.1637:0.0907	.	92;117;133;110;117	B7Z958;B2RDE8;Q5SZ07;Q5SZ08;P51858	.;.;.;.;HDGF_HUMAN	K	117;110;117;85;133;140	ENSP00000349878:E117K;ENSP00000357192:E110K;ENSP00000443120:E117K;ENSP00000416752:E85K;ENSP00000357189:E133K	ENSP00000349878:E117K	E	-	1	0	HDGF	154980719	0.747000	0.28283	0.077000	0.20336	0.280000	0.26924	1.192000	0.32150	1.090000	0.41315	0.449000	0.29647	GAA		0.592	HDGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098946.1	NM_004494	
INSRR	3645	hgsc.bcm.edu	37	1	156815781	156815781	+	Missense_Mutation	SNP	C	C	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:156815781C>A	ENST00000368195.3	-	9	2337	c.1941G>T	c.(1939-1941)gaG>gaT	p.E647D	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	647	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E647D(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGTCGCCGTCCTCTGCCAGCC	0.692																																					p.E647D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1941T	1						.						60.0	51.0	54.0					1																	156815781		2203	4300	6503	155082405	SO:0001583	missense	3645	exon9			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.1941G>T	1.37:g.156815781C>A	ENSP00000357178:p.Glu647Asp	Somatic		Capture	SOLID	Phase_I	155082405	NM_014215	O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.357993	0.41801	.	.	ENSG00000027644	ENST00000368195	T	0.72725	-0.68	4.84	2.98	0.34508	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.48767	D	0.000169	T	0.70298	0.3208	.	.	.	0.37220	D	0.905209	D	0.59767	0.986	D	0.67103	0.949	T	0.69168	-0.5216	9	0.32370	T	0.25	.	9.2077	0.37300	0.0:0.822:0.0:0.178	.	647	P14616	INSRR_HUMAN	D	647	ENSP00000357178:E647D	ENSP00000357178:E647D	E	-	3	2	INSRR	155082405	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.750000	0.26334	0.768000	0.33290	0.561000	0.74099	GAG		0.692	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215	
CADM3	57863	hgsc.bcm.edu	37	1	159166847	159166847	+	Missense_Mutation	SNP	A	A	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:159166847A>C	ENST00000368125.4	+	7	1106	c.949A>C	c.(949-951)Aat>Cat	p.N317H	CADM3_ENST00000368124.4_Missense_Mutation_p.N351H|CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000497636.1_3'UTR	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	317					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.N351H(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					CCTCAATGTTAATGGTAAGCC	0.478																																					p.N351H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1051C	1						.						125.0	110.0	115.0					1																	159166847		2203	4300	6503	157433471	SO:0001583	missense	57863	exon8			AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.949A>C	1.37:g.159166847A>C	ENSP00000357107:p.Asn317His	Somatic		Capture	SOLID	Phase_I	157433471	NM_021189	Q8IZQ9|Q9NVJ5|Q9UJP1	Missense_Mutation	SNP	ENST00000368125.4	37	CCDS44251.1	.	.	.	.	.	.	.	.	.	.	A	5.787	0.329577	0.10956	.	.	ENSG00000162706	ENST00000368124;ENST00000368125	T;T	0.15017	2.46;2.46	5.07	3.93	0.45458	Immunoglobulin-like fold (1);	0.346744	0.29444	N	0.012125	T	0.02888	0.0086	N	0.12853	0.265	0.09310	N	1	B;B;B	0.17038	0.0;0.02;0.0	B;B;B	0.24701	0.002;0.055;0.0	T	0.44877	-0.9299	10	0.16420	T	0.52	.	10.2758	0.43510	0.8335:0.1665:0.0:0.0	.	271;317;351	Q8N126-3;Q8N126;Q8N126-2	.;CADM3_HUMAN;.	H	351;317	ENSP00000357106:N351H;ENSP00000357107:N317H	ENSP00000357106:N351H	N	+	1	0	CADM3	157433471	0.097000	0.21791	0.342000	0.25602	0.212000	0.24457	1.191000	0.32138	0.935000	0.37341	0.482000	0.46254	AAT		0.478	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189	
B4GALT3	8703	hgsc.bcm.edu	37	1	161141721	161141721	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:161141721C>T	ENST00000319769.5	-	8	1289	c.1067G>A	c.(1066-1068)cGt>cAt	p.R356H	PPOX_ENST00000432542.2_Intron|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000495483.1_Intron|B4GALT3_ENST00000470882.1_5'UTR|B4GALT3_ENST00000367998.1_Missense_Mutation_p.R356H	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	356					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	AGGTGGGTAACGTGGCCCAGA	0.612																																					p.R356H												.	.	0			c.G1067A	1						.						63.0	72.0	69.0					1																	161141721		2203	4300	6503	159408345	SO:0001583	missense	8703	exon8			BC006099	CCDS1222.1	1q21-q23	2013-02-19			ENSG00000158850	ENSG00000158850		"""Beta 4-glycosyltransferases"""	926	protein-coding gene	gene with protein product		604014				9405390, 9597550	Standard	NM_001199873		Approved	beta4Gal-T3	uc001fys.2	O60512	OTTHUMG00000034348	ENST00000319769.5:c.1067G>A	1.37:g.161141721C>T	ENSP00000320965:p.Arg356His	Somatic		Capture	SOLID	Phase_I	159408345	NM_001199874	D3DVG3|O60910|Q9BPZ4|Q9H8T2	Missense_Mutation	SNP	ENST00000319769.5	37	CCDS1222.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.210094	0.39003	.	.	ENSG00000158850	ENST00000319769;ENST00000407555;ENST00000367998;ENST00000367997	T;T	0.52983	0.64;0.64	5.28	3.29	0.37713	.	0.472153	0.20237	N	0.096361	T	0.15739	0.0379	N	0.22421	0.69	0.36004	D	0.837596	B	0.31859	0.343	B	0.18263	0.021	T	0.08166	-1.0735	10	0.48119	T	0.1	.	11.1539	0.48476	0.0:0.8258:0.0:0.1742	.	356	O60512	B4GT3_HUMAN	H	356;333;356;356	ENSP00000320965:R356H;ENSP00000356977:R356H	ENSP00000320965:R356H	R	-	2	0	B4GALT3	159408345	0.139000	0.22563	0.998000	0.56505	0.959000	0.62525	0.161000	0.16481	1.467000	0.48044	0.655000	0.94253	CGT		0.612	B4GALT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083054.1	NM_003779	
OLFML2B	25903	hgsc.bcm.edu	37	1	161967656	161967656	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:161967656G>A	ENST00000294794.3	-	6	1856	c.1433C>T	c.(1432-1434)aCg>aTg	p.T478M	OLFML2B_ENST00000367940.2_Missense_Mutation_p.T479M	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	478					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)	p.T478M(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GGGGCTCAGCGTGGGGCTGGC	0.562																																					p.T478M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1433T	1						.						141.0	141.0	141.0					1																	161967656		2203	4300	6503	160234280	SO:0001583	missense	25903	exon6			BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1433C>T	1.37:g.161967656G>A	ENSP00000294794:p.Thr478Met	Somatic		Capture	SOLID	Phase_I	160234280	NM_015441	B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.679935	0.47886	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	D;D	0.87650	-2.28;-2.28	4.52	2.55	0.30701	.	.	.	.	.	T	0.73931	0.3650	L	0.27053	0.805	0.22541	N	0.99901	P;P	0.43519	0.809;0.809	P;P	0.49999	0.561;0.628	T	0.68693	-0.5341	8	0.49607	T	0.09	.	5.9464	0.19221	0.107:0.3814:0.5115:0.0	.	479;478	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	M	478;479	ENSP00000294794:T478M;ENSP00000356917:T479M	ENSP00000294794:T478M	T	-	2	0	OLFML2B	160234280	0.989000	0.36119	0.998000	0.56505	0.726000	0.41606	0.801000	0.27055	0.473000	0.27368	0.462000	0.41574	ACG		0.562	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441	
MAEL	84944	hgsc.bcm.edu	37	1	166958612	166958612	+	Missense_Mutation	SNP	G	G	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:166958612G>T	ENST00000367872.4	+	1	267	c.23G>T	c.(22-24)cGg>cTg	p.R8L	MAEL_ENST00000367870.2_Missense_Mutation_p.R8L	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	8					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)	p.R8L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						AAGGCCAGCCGGAATGCTTAC	0.607																																					p.R8L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G23T	1						.						56.0	48.0	51.0					1																	166958612		2203	4300	6503	165225236	SO:0001583	missense	84944	exon1			AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"""cancer/testis antigen 128"", ""spermatogenesis associated 35"""	611368	"""maelstrom homolog (Drosophila)"""			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.23G>T	1.37:g.166958612G>T	ENSP00000356846:p.Arg8Leu	Somatic		Capture	SOLID	Phase_I	165225236	NM_032858	B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	ENST00000367872.4	37	CCDS1257.1	.	.	.	.	.	.	.	.	.	.	G	31	5.073048	0.93950	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000447624	T;T;T	0.38887	1.11;2.44;2.44	5.43	5.43	0.79202	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (1);Domain of unknown function DUF1898 (1);	0.000000	0.64402	D	0.000006	T	0.45256	0.1333	N	0.24115	0.695	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.49123	-0.8972	10	0.72032	D	0.01	.	18.1706	0.89744	0.0:0.0:1.0:0.0	.	8;8	E9JVC3;Q96JY0	.;MAEL_HUMAN	L	8	ENSP00000356846:R8L;ENSP00000356844:R8L;ENSP00000402143:R8L	ENSP00000356844:R8L	R	+	2	0	MAEL	165225236	0.964000	0.33143	0.992000	0.48379	0.990000	0.78478	3.336000	0.52113	2.830000	0.97506	0.655000	0.94253	CGG		0.607	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858	
DCAF6	55827	hgsc.bcm.edu	37	1	167944228	167944228	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:167944228C>T	ENST00000312263.6	+	4	617	c.413C>T	c.(412-414)aCg>aTg	p.T138M	DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000432587.2_Missense_Mutation_p.T107M|DCAF6_ENST00000367843.3_Missense_Mutation_p.T138M|DCAF6_ENST00000367840.3_Missense_Mutation_p.T138M	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	138					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.T138M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						TGCCAATTTACGTGTCATTAT	0.308																																					p.T107M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C320T	1						.						115.0	109.0	111.0					1																	167944228		2203	4300	6503	166210852	SO:0001583	missense	55827	exon3			AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.413C>T	1.37:g.167944228C>T	ENSP00000311949:p.Thr138Met	Somatic		Capture	SOLID	Phase_I	166210852	NM_001198957	A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	ENST00000312263.6	37	CCDS30933.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516513	0.85495	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	4.92	4.92	0.64577	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.110811	0.64402	D	0.000009	D	0.88603	0.6481	M	0.80332	2.49	0.80722	D	1.000000	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.87578	0.996;0.998;0.988;0.962	D	0.88263	0.2924	9	0.45353	T	0.12	.	18.489	0.90839	0.0:1.0:0.0:0.0	.	107;138;138;138	B4DNB8;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;DCAF6_HUMAN;.	M	138;107;138;138	ENSP00000356817:T138M;ENSP00000396238:T107M;ENSP00000311949:T138M;ENSP00000356814:T138M	ENSP00000311949:T138M	T	+	2	0	DCAF6	166210852	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.232000	0.78116	2.413000	0.81919	0.555000	0.69702	ACG		0.308	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442	
XCL2	6846	hgsc.bcm.edu	37	1	168511291	168511291	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:168511291C>T	ENST00000367819.2	-	2	148	c.116G>A	c.(115-117)cGa>cAa	p.R39Q		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	39					blood circulation (GO:0008015)|cell chemotaxis (GO:0060326)|immune response (GO:0006955)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)	p.R39Q(1)		large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					AACTGGCAGTCGCTGGGTAGT	0.473																																					p.R39Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G116A	1						.						136.0	112.0	120.0					1																	168511291		2203	4298	6501	166777915	SO:0001583	missense	6846	exon2			BC070309	CCDS1273.1	1q24.2	2013-02-28	2002-08-22	2002-08-23	ENSG00000143185	ENSG00000143185		"""Endogenous ligands"""	10646	protein-coding gene	gene with protein product		604828	"""small inducible cytokine subfamily C, member 2"""	SCYC2		7875320	Standard	NM_003175		Approved	SCM-1b	uc001gfn.4	Q9UBD3	OTTHUMG00000034549	ENST00000367819.2:c.116G>A	1.37:g.168511291C>T	ENSP00000356793:p.Arg39Gln	Somatic		Capture	SOLID	Phase_I	166777915	NM_003175		Missense_Mutation	SNP	ENST00000367819.2	37	CCDS1273.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.847265	0.51164	.	.	ENSG00000143185	ENST00000367819	T	0.05258	3.47	2.49	-1.62	0.08372	Chemokine interleukin-8-like domain (3);	0.965870	0.08516	N	0.934190	T	0.04182	0.0116	L	0.45698	1.435	0.27719	N	0.945178	D	0.71674	0.998	P	0.55785	0.784	T	0.37430	-0.9706	9	0.18710	T	0.47	0.0098	9.7991	0.40753	0.0:0.3759:0.6241:0.0	.	39	Q9UBD3	XCL2_HUMAN	Q	39	ENSP00000356793:R39Q	ENSP00000356793:R39Q	R	-	2	0	XCL2	166777915	0.000000	0.05858	0.029000	0.17559	0.260000	0.26232	-2.100000	0.01345	-0.505000	0.06568	0.195000	0.17529	CGA		0.473	XCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083613.1	NM_003175	
C1orf112	55732	hgsc.bcm.edu	37	1	169820984	169820984	+	Silent	SNP	T	T	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:169820984T>G	ENST00000286031.6	+	23	2971	c.2271T>G	c.(2269-2271)gcT>gcG	p.A757A	SCYL3_ENST00000367771.6_3'UTR|C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Silent_p.A757A	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	757								p.A757A(1)		breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AAACTGAAGCTGCCAAAGTGG	0.418																																					p.A757A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2271G	1						.						123.0	118.0	120.0					1																	169820984		2203	4300	6503	168087608	SO:0001819	synonymous_variant	55732	exon23			AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.2271T>G	1.37:g.169820984T>G		Somatic		Capture	SOLID	Phase_I	168087608	NM_018186	A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Silent	SNP	ENST00000286031.6	37	CCDS1285.1																																																																																				0.418	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	NM_018186	
KLHL20	27252	hgsc.bcm.edu	37	1	173720943	173720943	+	Missense_Mutation	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:173720943A>G	ENST00000209884.4	+	4	774	c.638A>G	c.(637-639)cAa>cGa	p.Q213R	KLHL20_ENST00000546011.1_Missense_Mutation_p.Q24R	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	213	BACK.				cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)	p.Q213R(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						CCAGCCAATCAACTCATTGAT	0.383																																					p.Q213R	GBM(159;862 2695 6559 23041)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A638G	1						.						95.0	84.0	88.0					1																	173720943		2203	4300	6503	171987566	SO:0001583	missense	27252	exon4			AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"""Kelch-like"", ""BTB/POZ domain containing"""	25056	protein-coding gene	gene with protein product			"""kelch-like 20 (Drosophila)"""			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.638A>G	1.37:g.173720943A>G	ENSP00000209884:p.Gln213Arg	Somatic		Capture	SOLID	Phase_I	171987566	NM_014458	B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Missense_Mutation	SNP	ENST00000209884.4	37	CCDS1310.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.740043	0.89573	.	.	ENSG00000076321	ENST00000546011;ENST00000209884	T;T	0.69435	-0.4;-0.4	5.38	5.38	0.77491	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.73567	0.3603	M	0.69463	2.115	0.80722	D	1	P;D	0.67145	0.772;0.996	P;D	0.64687	0.569;0.928	T	0.78259	-0.2273	10	0.87932	D	0	.	14.3643	0.66795	1.0:0.0:0.0:0.0	.	24;213	B4DUR0;Q9Y2M5	.;KLH20_HUMAN	R	24;213	ENSP00000443121:Q24R;ENSP00000209884:Q213R	ENSP00000209884:Q213R	Q	+	2	0	KLHL20	171987566	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.903000	0.92573	2.015000	0.59207	0.482000	0.46254	CAA		0.383	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	NM_014458	
RABGAP1L	9910	hgsc.bcm.edu	37	1	174671329	174671329	+	Missense_Mutation	SNP	A	A	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:174671329A>C	ENST00000251507.4	+	17	2278	c.2104A>C	c.(2104-2106)Act>Cct	p.T702P	RABGAP1L_ENST00000367686.3_3'UTR|RABGAP1L_ENST00000367687.1_Missense_Mutation_p.T28P|RABGAP1L_ENST00000325589.5_Missense_Mutation_p.T9P|RABGAP1L_ENST00000347255.2_Missense_Mutation_p.T29P	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0								p.T702P(1)|p.T29P(1)		NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GTGGTTTCTCACTCTTTTTAC	0.428																																					p.T702P												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2104C	1						.						168.0	147.0	154.0					1																	174671329		2203	4300	6503	172937952	SO:0001583	missense	9910	exon17			AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.2104A>C	1.37:g.174671329A>C	ENSP00000251507:p.Thr702Pro	Somatic		Capture	SOLID	Phase_I	172937952	NM_014857	B7ZAA4	Missense_Mutation	SNP	ENST00000251507.4	37	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.916941	0.92249	.	.	ENSG00000152061	ENST00000251507;ENST00000367692;ENST00000325589;ENST00000367687;ENST00000347255	T;T;T;T	0.16457	2.34;2.34;2.34;2.34	5.67	5.67	0.87782	Rab-GAP/TBC domain (4);	0.045746	0.85682	D	0.000000	T	0.53400	0.1794	M	0.93420	3.415	0.80722	D	1	D;D;D	0.89917	1.0;0.99;0.998	D;D;D	0.81914	0.991;0.98;0.995	T	0.66834	-0.5823	10	0.87932	D	0	.	15.9	0.79365	1.0:0.0:0.0:0.0	.	28;29;702	Q5R372-6;Q5R372-5;Q5R372	.;.;RBG1L_HUMAN	P	702;714;9;28;29	ENSP00000251507:T702P;ENSP00000318603:T9P;ENSP00000356660:T28P;ENSP00000281844:T29P	ENSP00000251507:T702P	T	+	1	0	RABGAP1L	172937952	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	2.166000	0.68216	0.454000	0.30748	ACT		0.428	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765	
BRINP2	57795	hgsc.bcm.edu	37	1	177250230	177250230	+	Missense_Mutation	SNP	G	G	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:177250230G>C	ENST00000361539.4	+	8	2230	c.1918G>C	c.(1918-1920)Gag>Cag	p.E640Q	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	640					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.E640Q(1)									GACTTTCTTTGAGACAGTTCA	0.498																																					p.E640Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1918C	1						.						63.0	62.0	63.0					1																	177250230		2203	4300	6503	175516853	SO:0001583	missense	57795	exon8				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1918G>C	1.37:g.177250230G>C	ENSP00000354481:p.Glu640Gln	Somatic		Capture	SOLID	Phase_I	175516853	NM_021165	O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.042222	0.75732	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.21932	1.98	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.48259	0.1490	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.991	T	0.50906	-0.8772	10	0.87932	D	0	-21.7971	18.2239	0.89910	0.0:0.0:1.0:0.0	.	535;640	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	Q	393;640	ENSP00000354481:E640Q	ENSP00000354481:E640Q	E	+	1	0	FAM5B	175516853	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.726000	0.98782	2.391000	0.81399	0.313000	0.20887	GAG		0.498	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165	
BRINP2	57795	hgsc.bcm.edu	37	1	177250328	177250328	+	Silent	SNP	T	T	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:177250328T>G	ENST00000361539.4	+	8	2328	c.2016T>G	c.(2014-2016)tcT>tcG	p.S672S	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	672					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.S672S(1)									CTGATCCCTCTAAGAATTTGG	0.468																																					p.S672S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2016G	1						.						74.0	72.0	73.0					1																	177250328		2203	4300	6503	175516951	SO:0001819	synonymous_variant	57795	exon8				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.2016T>G	1.37:g.177250328T>G		Somatic		Capture	SOLID	Phase_I	175516951	NM_021165	O95560|Q6ZWC1|Q7LCZ9|Q8N360	Silent	SNP	ENST00000361539.4	37	CCDS1320.1																																																																																				0.468	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165	
AXDND1	126859	hgsc.bcm.edu	37	1	179339201	179339201	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:179339201C>T	ENST00000367618.3	+	4	749	c.362C>T	c.(361-363)aCa>aTa	p.T121I	AXDND1_ENST00000457238.2_Missense_Mutation_p.T121I|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	121								p.T121I(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GTCTCCCTCACAGGAGCTGGA	0.438																																					p.T121I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C362T	1						.						55.0	48.0	51.0					1																	179339201		2203	4300	6503	177605824	SO:0001583	missense	126859	exon4			BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.362C>T	1.37:g.179339201C>T	ENSP00000356590:p.Thr121Ile	Somatic		Capture	SOLID	Phase_I	177605824	NM_144696	Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.128795	0.56721	.	.	ENSG00000162779	ENST00000509175;ENST00000367618;ENST00000360322;ENST00000507383;ENST00000457238;ENST00000508285;ENST00000511889;ENST00000434088	T;T;T	0.50813	2.01;0.73;2.05	5.39	2.31	0.28768	.	0.199466	0.41294	D	0.000913	T	0.53932	0.1827	L	0.54323	1.7	0.09310	N	1	D;D	0.64830	0.994;0.994	P;P	0.59288	0.855;0.855	T	0.43410	-0.9393	10	0.72032	D	0.01	-1.0849	7.9161	0.29818	0.322:0.522:0.156:0.0	.	79;121	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	I	79;121;79;79;121;121;79;55	ENSP00000356590:T121I;ENSP00000416712:T121I;ENSP00000391716:T55I	ENSP00000353471:T79I	T	+	2	0	AXDND1	177605824	0.530000	0.26330	0.421000	0.26609	0.896000	0.52359	1.429000	0.34903	0.609000	0.30018	0.453000	0.30009	ACA		0.438	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696	
NPHS2	7827	hgsc.bcm.edu	37	1	179520523	179520523	+	Missense_Mutation	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:179520523A>G	ENST00000367615.4	-	8	1005	c.937T>C	c.(937-939)Tca>Cca	p.S313P	RP11-545A16.1_ENST00000569644.1_RNA|NPHS2_ENST00000367616.4_Missense_Mutation_p.S245P|AXDND1_ENST00000367618.3_Intron	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	313					actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)		p.S313P(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GGGGTGCCTGACAGAATCTCA	0.498																																					p.S313P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T937C	1						.						84.0	83.0	84.0					1																	179520523		2203	4300	6503	177787146	SO:0001583	missense	7827	exon8			AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.937T>C	1.37:g.179520523A>G	ENSP00000356587:p.Ser313Pro	Somatic		Capture	SOLID	Phase_I	177787146	NM_014625	B1AM32|B1AM33|Q8N6Q5	Missense_Mutation	SNP	ENST00000367615.4	37	CCDS1331.1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.453832	0.63290	.	.	ENSG00000116218	ENST00000367615;ENST00000367616	D;D	0.99680	-6.38;-6.38	5.7	4.58	0.56647	.	0.080242	0.51477	D	0.000091	D	0.99654	0.9872	M	0.90759	3.145	0.31626	N	0.649691	D;D	0.61080	0.989;0.977	P;P	0.62649	0.836;0.905	D	0.97670	1.0166	10	0.87932	D	0	-3.6238	11.8728	0.52529	0.8445:0.1555:0.0:0.0	.	245;313	Q9NP85-2;Q9NP85	.;PODO_HUMAN	P	313;245	ENSP00000356587:S313P;ENSP00000356588:S245P	ENSP00000356587:S313P	S	-	1	0	NPHS2	177787146	0.987000	0.35691	0.647000	0.29507	0.552000	0.35366	2.849000	0.48286	0.986000	0.38683	0.533000	0.62120	TCA		0.498	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085283.1		
QSOX1	5768	hgsc.bcm.edu	37	1	180159621	180159621	+	Silent	SNP	G	G	A	rs61736297	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:180159621G>A	ENST00000367602.3	+	10	1268	c.1194G>A	c.(1192-1194)ccG>ccA	p.P398P	QSOX1_ENST00000367600.5_Silent_p.P398P			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	398	ERV/ALR sulfhydryl oxidase. {ECO:0000255|PROSITE-ProRule:PRU00654}.				cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)	p.P398P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGAGTGAGCCGCATTTCCGGG	0.552													G|||	28	0.00559105	0.0189	0.0043	5008	,	,		18683	0.0		0.0	False		,,,				2504	0.0				p.P398P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1194A	1						.	G	,	90,4316	75.7+/-113.9	0,90,2113	158.0	143.0	148.0		1194,1194	-6.9	1.0	1	dbSNP_129	148	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	QSOX1	NM_001004128.2,NM_002826.4	,	0,91,6412	AA,AG,GG		0.0116,2.0427,0.6997	,	398/605,398/748	180159621	91,12915	2203	4300	6503	178426244	SO:0001819	synonymous_variant	5768	exon10			U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"""quiescin Q6"""	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.1194G>A	1.37:g.180159621G>A		Somatic		Capture	SOLID	Phase_I	178426244	NM_002826	Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Silent	SNP	ENST00000367602.3	37	CCDS1337.1																																																																																				0.552	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085289.1	NM_002826	
GLUL	2752	hgsc.bcm.edu	37	1	182354972	182354972	+	Missense_Mutation	SNP	C	C	T	rs377520978		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:182354972C>T	ENST00000331872.6	-	5	1066	c.526G>A	c.(526-528)Gtg>Atg	p.V176M	GLUL_ENST00000417584.2_Missense_Mutation_p.V176M|GLUL_ENST00000311223.5_Missense_Mutation_p.V176M|GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000339526.4_Missense_Mutation_p.V176M	NM_001033044.2	NP_001028216.1	P15104	GLNA_HUMAN	glutamate-ammonia ligase	176					cell proliferation (GO:0008283)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to starvation (GO:0009267)|glutamate catabolic process (GO:0006538)|glutamine biosynthetic process (GO:0006542)|neurotransmitter uptake (GO:0001504)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of insulin secretion (GO:0032024)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein homooligomerization (GO:0051260)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glial cell projection (GO:0097386)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|glutamate-ammonia ligase activity (GO:0004356)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)	p.V176M(1)		endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Ceftriaxone(DB01212)|Diazoxide(DB01119)|L-Glutamine(DB00130)|L-Methionine(DB00134)|Pegvisomant(DB00082)	TGGGCCTCCACGATGTCCCTG	0.512																																					p.V176M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G526A	1						.						129.0	138.0	135.0					1																	182354972		2203	4300	6503	180621595	SO:0001583	missense	2752	exon6			AL161952	CCDS1344.1	1q31	2010-05-04	2010-05-04		ENSG00000135821	ENSG00000135821	6.3.1.2		4341	protein-coding gene	gene with protein product	"""glutamine synthetase"""	138290	"""glutamate-ammonia ligase (glutamine synthase)"""	GLNS		1681907, 2888076	Standard	NM_002065		Approved		uc001gpa.2	P15104	OTTHUMG00000037407	ENST00000331872.6:c.526G>A	1.37:g.182354972C>T	ENSP00000356537:p.Val176Met	Somatic		Capture	SOLID	Phase_I	180621595	NM_002065	Q499Y9|Q5T9Z1|Q7Z3W4|Q8IZ17	Missense_Mutation	SNP	ENST00000331872.6	37	CCDS1344.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617617	0.87359	.	.	ENSG00000135821	ENST00000331872;ENST00000311223;ENST00000417584;ENST00000339526	D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03	5.43	5.43	0.79202	Glutamine synthetase, catalytic domain (1);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.192196	0.45126	D	0.000398	D	0.89308	0.6678	M	0.92738	3.34	0.80722	D	1	P	0.38992	0.653	B	0.37422	0.249	D	0.91168	0.4966	10	0.59425	D	0.04	-19.739	17.7875	0.88542	0.0:1.0:0.0:0.0	.	176	P15104	GLNA_HUMAN	M	176	ENSP00000356537:V176M;ENSP00000307900:V176M;ENSP00000398320:V176M;ENSP00000344958:V176M	ENSP00000307900:V176M	V	-	1	0	GLUL	180621595	1.000000	0.71417	0.952000	0.39060	0.969000	0.65631	7.451000	0.80668	2.538000	0.85594	0.650000	0.86243	GTG		0.512	GLUL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091043.1	NM_002065	
UBR4	23352	hgsc.bcm.edu	37	1	19499676	19499676	+	Splice_Site	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:19499676T>C	ENST00000375254.3	-	24	3317	c.3290A>G	c.(3289-3291)cAg>cGg	p.Q1097R	UBR4_ENST00000375226.2_Splice_Site_p.Q1097R|UBR4_ENST00000375267.2_Splice_Site_p.Q1097R|UBR4_ENST00000375217.2_Splice_Site_p.Q1097R	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1097					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q1097R(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATTACATACCTGTCGAGCGAA	0.388																																					p.Q1097R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3290G	1						.						125.0	126.0	125.0					1																	19499676		2203	4300	6503	19372263	SO:0001630	splice_region_variant	23352	exon24			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.3291+1A>G	1.37:g.19499676T>C		Somatic		Capture	SOLID	Phase_I	19372263	NM_020765	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.544873	0.86022	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000419533	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.95	5.95	0.96441	.	0.061417	0.64402	D	0.000003	T	0.55529	0.1926	L	0.29908	0.895	0.80722	D	1	P	0.45126	0.851	P	0.58391	0.838	T	0.57412	-0.7816	10	0.62326	D	0.03	.	16.0852	0.81042	0.0:0.0:0.0:1.0	.	1097	Q5T4S7	UBR4_HUMAN	R	1097;1097;1097;1097;313	ENSP00000364403:Q1097R;ENSP00000364416:Q1097R;ENSP00000364365:Q1097R;ENSP00000364374:Q1097R	ENSP00000364365:Q1097R	Q	-	2	0	UBR4	19372263	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.698000	0.84413	2.279000	0.76181	0.533000	0.62120	CAG		0.388	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	Missense_Mutation
NPL	80896	hgsc.bcm.edu	37	1	182775328	182775328	+	Missense_Mutation	SNP	G	G	A	rs149443533		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:182775328G>A	ENST00000367553.1	+	4	235	c.191G>A	c.(190-192)cGc>cAc	p.R64H	NPL_ENST00000367550.2_Missense_Mutation_p.R64H|NPL_ENST00000463899.1_3'UTR|NPL_ENST00000367555.1_Missense_Mutation_p.R64H|NPL_ENST00000367554.3_5'UTR|NPL_ENST00000258317.2_Missense_Mutation_p.R64H|NPL_ENST00000367552.2_Missense_Mutation_p.R64H	NM_001200056.1|NM_030769.2	NP_001186985.1|NP_110396.1	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)	64					carbohydrate metabolic process (GO:0005975)|N-acetylneuraminate catabolic process (GO:0019262)	cytoplasm (GO:0005737)	N-acetylneuraminate lyase activity (GO:0008747)	p.R64H(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						TCAGAGCGTCGCCAGGTTGCA	0.522																																					p.R64H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G191A	1						.	G	,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	118.0	116.0	117.0		,191,191,191,191	2.4	0.7	1	dbSNP_134	117	2,8598	2.2+/-6.3	0,2,4298	no	utr-5,missense,missense,missense,missense	NPL	NM_001200050.1,NM_001200051.1,NM_001200052.1,NM_001200056.1,NM_030769.2	,29,29,29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	,64/241,64/231,64/285,64/321	182775328	2,13004	2203	4300	6503	181041951	SO:0001583	missense	80896	exon4			AF338436	CCDS1350.1, CCDS55666.1, CCDS55667.1, CCDS72990.1	1q25	2010-11-25	2003-09-16	2003-09-17	ENSG00000135838	ENSG00000135838	4.1.3.3		16781	protein-coding gene	gene with protein product	"""dihydrodipicolinate synthetase homolog 1 (E. coli)"""	611412	"""chromosome 1 open reading frame 13"""	C1orf13		11318611	Standard	NM_001200056		Approved	NPL1, DHDPS1	uc009wyb.3	Q9BXD5	OTTHUMG00000035321	ENST00000367553.1:c.191G>A	1.37:g.182775328G>A	ENSP00000356524:p.Arg64His	Somatic		Capture	SOLID	Phase_I	181041951	NM_030769	B2R839|Q4G0Q8|Q4G0Z2|Q64L88|Q6PEL0	Missense_Mutation	SNP	ENST00000367553.1	37	CCDS1350.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.642388	0.67244	0.0	2.33E-4	ENSG00000135838	ENST00000367555;ENST00000367553;ENST00000367552;ENST00000258317;ENST00000367550	D;D;D;D;D	0.95103	-3.61;-3.61;-3.61;-3.61;-3.61	5.26	2.38	0.29361	Aldolase-type TIM barrel (1);	0.298563	0.34906	N	0.003586	D	0.89504	0.6734	L	0.38175	1.15	0.37287	D	0.908117	D;P;P	0.57571	0.98;0.867;0.941	P;B;P	0.45167	0.472;0.358;0.472	D	0.86184	0.1608	10	0.33141	T	0.24	-10.0271	6.1753	0.20441	0.3717:0.0:0.6283:0.0	.	64;64;64	Q9BXD5-4;Q9BXD5;Q9BXD5-3	.;NPL_HUMAN;.	H	64	ENSP00000356526:R64H;ENSP00000356524:R64H;ENSP00000356523:R64H;ENSP00000258317:R64H;ENSP00000356521:R64H	ENSP00000258317:R64H	R	+	2	0	NPL	181041951	1.000000	0.71417	0.682000	0.30024	0.900000	0.52787	3.553000	0.53713	0.611000	0.30052	0.563000	0.77884	CGC		0.522	NPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085463.1	NM_030769	
CFHR5	81494	hgsc.bcm.edu	37	1	196953191	196953191	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:196953191C>T	ENST00000256785.4	+	3	463	c.354C>T	c.(352-354)taC>taT	p.Y118Y	CFHR5_ENST00000367414.5_Silent_p.Y142Y			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	118	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)		p.Y118Y(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ACACAGGATACAGCCTTCAAA	0.403																																					p.Y118Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C354T	1						.						113.0	99.0	104.0					1																	196953191		2203	4300	6503	195219814	SO:0001819	synonymous_variant	81494	exon3			AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.354C>T	1.37:g.196953191C>T		Somatic		Capture	SOLID	Phase_I	195219814	NM_030787	Q2NKK2	Silent	SNP	ENST00000256785.4	37	CCDS1387.1																																																																																				0.403	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787	
CRB1	23418	hgsc.bcm.edu	37	1	197396682	197396682	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:197396682G>A	ENST00000367400.3	+	7	2362	c.2227G>A	c.(2227-2229)Gtc>Atc	p.V743I	CRB1_ENST00000544212.1_Missense_Mutation_p.V224I|CRB1_ENST00000367399.2_Missense_Mutation_p.V631I|CRB1_ENST00000367397.1_Missense_Mutation_p.V124I|CRB1_ENST00000535699.1_Missense_Mutation_p.V674I|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000538660.1_Intron	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	743	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V743I(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTCCATGTTTGTCCGAACGCT	0.478																																					p.V743I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2227A	1	GRCh37	HD0616	CRB1	D		.						84.0	75.0	78.0					1																	197396682		2203	4300	6503	195663305	SO:0001583	missense	23418	exon7				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2227G>A	1.37:g.197396682G>A	ENSP00000356370:p.Val743Ile	Somatic		Capture	SOLID	Phase_I	195663305	NM_201253	A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	5.984	0.365543	0.11352	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15	5.75	3.87	0.44632	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.67757	0.2927	L	0.45470	1.425	0.33696	D	0.613959	B;B;B;B	0.25169	0.119;0.037;0.082;0.117	B;B;B;B	0.25884	0.052;0.041;0.058;0.064	T	0.65504	-0.6152	9	0.22109	T	0.4	.	7.485	0.27427	0.1382:0.0:0.7274:0.1343	.	674;631;392;743	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	I	674;743;631;224;124;392	ENSP00000438786:V674I;ENSP00000356370:V743I;ENSP00000356369:V631I;ENSP00000444556:V224I;ENSP00000356367:V124I	ENSP00000356367:V124I	V	+	1	0	CRB1	195663305	1.000000	0.71417	0.790000	0.31976	0.137000	0.21094	1.172000	0.31908	0.755000	0.32990	0.650000	0.86243	GTC		0.478	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253	
PIK3C2B	5287	hgsc.bcm.edu	37	1	204429048	204429048	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:204429048G>A	ENST00000367187.3	-	9	2080	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F	PIK3C2B_ENST00000424712.2_Silent_p.F508F	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	508					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)	p.F508F(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGTAAGTGTCGAACAGAAGAC	0.582																																					p.F508F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1524T	1						.						80.0	67.0	71.0					1																	204429048		2203	4300	6503	202695671	SO:0001819	synonymous_variant	5287	exon9			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.1524C>T	1.37:g.204429048G>A		Somatic		Capture	SOLID	Phase_I	202695671	NM_002646	O95666|Q5SW99	Silent	SNP	ENST00000367187.3	37	CCDS1446.1																																																																																				0.582	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646	
RASSF5	83593	hgsc.bcm.edu	37	1	206758559	206758559	+	Missense_Mutation	SNP	C	C	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:206758559C>A	ENST00000355294.4	+	5	1093	c.1036C>A	c.(1036-1038)Ctg>Atg	p.L346M	RASSF5_ENST00000491368.1_3'UTR|RASSF5_ENST00000304534.8_Missense_Mutation_p.L193M|EIF2D_ENST00000472709.2_Intron|RASSF5_ENST00000367117.3_Intron	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	346	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein localization to nucleus (GO:1900180)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.L346M(1)|p.L193M(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CTACCTGCGCCTGCTTGCTGG	0.577																																					p.L346M	GBM(162;656 1984 11916 22872 31529)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1036A	1						.						179.0	183.0	182.0					1																	206758559		2203	4300	6503	204825182	SO:0001583	missense	83593	exon5			BC004270	CCDS1463.1, CCDS1464.1, CCDS30998.1	1q31	2014-04-10	2008-02-22		ENSG00000136653	ENSG00000266094			17609	protein-coding gene	gene with protein product		607020				11978988, 11965544	Standard	NM_182663		Approved	Maxp1, NORE1, RAPL	uc001hed.3	Q8WWW0	OTTHUMG00000184616	ENST00000355294.4:c.1036C>A	1.37:g.206758559C>A	ENSP00000347443:p.Leu346Met	Somatic		Capture	SOLID	Phase_I	204825182	NM_182663	A8K1E6|Q5SY32|Q8WWV9|Q8WXF4|Q9BT99	Missense_Mutation	SNP	ENST00000355294.4	37	CCDS30998.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671876	0.67928	.	.	ENSG00000136653	ENST00000355294;ENST00000338603;ENST00000367118;ENST00000304534	T;T;T	0.19394	2.15;2.15;2.15	6.02	1.56	0.23342	Ras-association (3);	0.066055	0.64402	D	0.000008	T	0.47525	0.1450	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.98;0.995	T	0.55101	-0.8193	10	0.87932	D	0	-0.1469	13.7877	0.63119	0.0:0.8701:0.0:0.1299	.	344;193;346	E9PDW5;Q8WWW0-2;Q8WWW0	.;.;RASF5_HUMAN	M	346;346;346;193	ENSP00000347443:L346M;ENSP00000342620:L346M;ENSP00000306091:L193M	ENSP00000306091:L193M	L	+	1	2	RASSF5	204825182	1.000000	0.71417	0.938000	0.37757	0.953000	0.61014	1.331000	0.33793	0.324000	0.23333	0.655000	0.94253	CTG		0.577	RASSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088469.1	NM_031437	
C4BPA	722	hgsc.bcm.edu	37	1	207297567	207297567	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:207297567G>A	ENST00000367070.3	+	6	756	c.562G>A	c.(562-564)Ggt>Agt	p.G188S		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	188	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.G188S(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						AAGGCACAGCGGTGAAGAAAA	0.478																																					p.G188S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G562A	1						.						93.0	96.0	95.0					1																	207297567		2203	4300	6503	205364190	SO:0001583	missense	722	exon6			M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"""complement component 4-binding protein, alpha"""	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.562G>A	1.37:g.207297567G>A	ENSP00000356037:p.Gly188Ser	Somatic		Capture	SOLID	Phase_I	205364190	NM_000715	Q5VVQ8	Missense_Mutation	SNP	ENST00000367070.3	37	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.446825	0.43429	.	.	ENSG00000123838	ENST00000367070	T	0.63580	-0.05	5.71	4.8	0.61643	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000007	T	0.66567	0.2802	L	0.42008	1.315	0.09310	N	0.999995	D	0.61080	0.989	P	0.61940	0.896	T	0.57619	-0.7780	10	0.15499	T	0.54	.	12.5291	0.56104	0.0:0.0:0.8334:0.1666	.	188	P04003	C4BPA_HUMAN	S	188	ENSP00000356037:G188S	ENSP00000356037:G188S	G	+	1	0	C4BPA	205364190	0.430000	0.25538	0.029000	0.17559	0.019000	0.09904	2.177000	0.42509	1.554000	0.49487	-0.158000	0.13435	GGT		0.478	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3		
PLXNA2	5362	hgsc.bcm.edu	37	1	208390589	208390589	+	Missense_Mutation	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:208390589T>C	ENST00000367033.3	-	2	1436	c.679A>G	c.(679-681)Aag>Gag	p.K227E		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	227	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.K227E(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GAAGGGATCTTGATGAGAGAG	0.547																																					p.K227E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A679G	1						.						184.0	191.0	189.0					1																	208390589		2203	4300	6503	206457212	SO:0001583	missense	5362	exon2			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.679A>G	1.37:g.208390589T>C	ENSP00000356000:p.Lys227Glu	Somatic		Capture	SOLID	Phase_I	206457212	NM_025179	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.392764	0.83011	.	.	ENSG00000076356	ENST00000367033	T	0.11277	2.79	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.38852	0.1056	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.36480	-0.9746	10	0.72032	D	0.01	.	15.9771	0.80076	0.0:0.0:0.0:1.0	.	281;227	O75051-2;O75051	.;PLXA2_HUMAN	E	227	ENSP00000356000:K227E	ENSP00000356000:K227E	K	-	1	0	PLXNA2	206457212	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.747000	0.85070	2.178000	0.69098	0.460000	0.39030	AAG		0.547	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179	
EIF4G3	8672	hgsc.bcm.edu	37	1	21137278	21137278	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:21137278G>A	ENST00000264211.8	-	30	4723	c.4529C>T	c.(4528-4530)gCa>gTa	p.A1510V	EIF4G3_ENST00000374937.3_Missense_Mutation_p.A1516V|EIF4G3_ENST00000602326.1_Missense_Mutation_p.A1516V|EIF4G3_ENST00000537738.1_Missense_Mutation_p.A1000V|EIF4G3_ENST00000400422.1_Missense_Mutation_p.A1510V|EIF4G3_ENST00000374935.3_Missense_Mutation_p.A1230V|EIF4G3_ENST00000536266.1_Missense_Mutation_p.A1114V	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1510	EIF4A-binding. {ECO:0000250}.|W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.A1510V(1)|p.A1516V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGCATAAAGTGCTTGCAGTTC	0.413																																					p.A1510V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4529T	1						.						199.0	169.0	179.0					1																	21137278		2203	4300	6503	21009865	SO:0001583	missense	8672	exon31			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.4529C>T	1.37:g.21137278G>A	ENSP00000264211:p.Ala1510Val	Somatic		Capture	SOLID	Phase_I	21009865	NM_003760	B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	CCDS214.1	.	.	.	.	.	.	.	.	.	.	G	36	5.794855	0.96952	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	D;D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7;-1.7	5.98	5.98	0.97165	eIF4-gamma/eIF5/eIF2-epsilon (3);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	D	0.91264	0.7246	M	0.72894	2.215	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	0.999;0.984;0.973;0.998;0.995	D	0.90963	0.4814	10	0.72032	D	0.01	-15.7776	20.452	0.99131	0.0:0.0:1.0:0.0	.	1705;1230;1114;1516;1510	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	V	1510;1706;1510;1230;1000;1516;1114	ENSP00000264211:A1510V;ENSP00000383274:A1510V;ENSP00000364071:A1230V;ENSP00000442010:A1000V;ENSP00000364073:A1516V;ENSP00000444693:A1114V	ENSP00000264211:A1510V	A	-	2	0	EIF4G3	21009865	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.835000	0.99442	2.838000	0.97847	0.591000	0.81541	GCA		0.413	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760	
TRAF3IP3	80342	hgsc.bcm.edu	37	1	209949008	209949008	+	Missense_Mutation	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:209949008A>G	ENST00000367024.1	+	11	1496	c.980A>G	c.(979-981)gAg>gGg	p.E327G	TRAF3IP3_ENST00000477431.1_Missense_Mutation_p.E63G|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.E307G|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.E327G|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.E307G|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.E307G|TRAF3IP3_ENST00000367023.1_Missense_Mutation_p.E63G			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	327						integral component of membrane (GO:0016021)		p.E307G(1)		breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GCTCTGAAGGAGGACTGGAGG	0.617																																					p.E327G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A980G	1						.						56.0	56.0	56.0					1																	209949008		2203	4300	6503	208015631	SO:0001583	missense	80342	exon11				CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"""TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"""	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.980A>G	1.37:g.209949008A>G	ENSP00000355991:p.Glu327Gly	Somatic		Capture	SOLID	Phase_I	208015631	NM_025228	A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Missense_Mutation	SNP	ENST00000367024.1	37	CCDS1490.2	.	.	.	.	.	.	.	.	.	.	A	13.57	2.277335	0.40294	.	.	ENSG00000009790	ENST00000400959;ENST00000367025;ENST00000367026;ENST00000367024;ENST00000010338;ENST00000367023;ENST00000487271;ENST00000477431	T;T;T;T;T;T;T;T	0.79749	-1.3;-1.22;-1.22;-1.22;-1.22;-1.3;-1.3;-1.22	4.78	4.78	0.61160	.	0.328943	0.27802	N	0.017799	T	0.75591	0.3870	L	0.58101	1.795	0.35325	D	0.785143	P;P;B;P	0.47910	0.589;0.589;0.314;0.902	B;B;B;B	0.43301	0.15;0.15;0.121;0.415	T	0.82010	-0.0669	10	0.66056	D	0.02	-16.5073	5.7718	0.18257	0.6625:0.1719:0.0:0.1656	.	327;307;327;307	Q9Y228;Q9Y228-2;Q9Y228-3;E2QRE5	T3JAM_HUMAN;.;.;.	G	307;327;307;327;307;63;63;63	ENSP00000383743:E307G;ENSP00000355992:E327G;ENSP00000355993:E307G;ENSP00000355991:E327G;ENSP00000010338:E307G;ENSP00000355990:E63G;ENSP00000418906:E63G;ENSP00000417417:E63G	ENSP00000010338:E307G	E	+	2	0	TRAF3IP3	208015631	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	2.450000	0.44943	1.783000	0.52377	0.460000	0.39030	GAG		0.617	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2		
SPATA17	128153	hgsc.bcm.edu	37	1	217975101	217975101	+	Missense_Mutation	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:217975101T>C	ENST00000366933.4	+	9	969	c.914T>C	c.(913-915)aTc>aCc	p.I305T	SPATA17_ENST00000471021.1_3'UTR	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	305						cytoplasm (GO:0005737)		p.I305T(1)		endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		GAAAAGTACATCCCATCAATG	0.303																																					p.I305T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T914C	1						.						53.0	55.0	54.0					1																	217975101		2197	4291	6488	216041724	SO:0001583	missense	128153	exon9			AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"""IQ motif containing H"""	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.914T>C	1.37:g.217975101T>C	ENSP00000355900:p.Ile305Thr	Somatic		Capture	SOLID	Phase_I	216041724	NM_138796	A5D6N2	Missense_Mutation	SNP	ENST00000366933.4	37	CCDS1519.1	.	.	.	.	.	.	.	.	.	.	T	8.130	0.782934	0.16189	.	.	ENSG00000162814	ENST00000366933	T	0.41758	0.99	4.9	2.39	0.29439	.	1.828640	0.03252	N	0.181944	T	0.34861	0.0912	L	0.44542	1.39	0.09310	N	1	B	0.21520	0.057	B	0.16722	0.016	T	0.15292	-1.0442	10	0.20046	T	0.44	-0.1768	5.4888	0.16765	0.2682:0.0876:0.0:0.6442	.	305	Q96L03	SPT17_HUMAN	T	305	ENSP00000355900:I305T	ENSP00000355900:I305T	I	+	2	0	SPATA17	216041724	0.000000	0.05858	0.002000	0.10522	0.427000	0.31564	0.106000	0.15354	0.822000	0.34565	0.460000	0.39030	ATC		0.303	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2	NM_138796	
DISP1	84976	hgsc.bcm.edu	37	1	223176895	223176895	+	Missense_Mutation	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:223176895A>G	ENST00000284476.6	+	8	2320	c.2156A>G	c.(2155-2157)tAc>tGc	p.Y719C		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	719					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.Y719C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AAGTTTCGCTACCTTTGGCTG	0.423																																					p.Y719C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2156G	1						.						165.0	162.0	163.0					1																	223176895		2203	4300	6503	221243518	SO:0001583	missense	84976	exon8			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.2156A>G	1.37:g.223176895A>G	ENSP00000284476:p.Tyr719Cys	Somatic		Capture	SOLID	Phase_I	221243518	NM_032890	Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	A	17.07	3.294728	0.60086	.	.	ENSG00000154309	ENST00000284476	D	0.85339	-1.97	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.88698	0.6507	L	0.56280	1.765	0.80722	D	1	D	0.56287	0.975	P	0.56648	0.803	D	0.89256	0.3594	10	0.56958	D	0.05	-45.1221	16.0173	0.80450	1.0:0.0:0.0:0.0	.	719	Q96F81	DISP1_HUMAN	C	719	ENSP00000284476:Y719C	ENSP00000284476:Y719C	Y	+	2	0	DISP1	221243518	1.000000	0.71417	0.998000	0.56505	0.907000	0.53573	9.339000	0.96797	2.181000	0.69327	0.533000	0.62120	TAC		0.423	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890	
PARP1	142	hgsc.bcm.edu	37	1	226573298	226573298	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:226573298G>A	ENST00000366794.5	-	7	1061	c.918C>T	c.(916-918)agC>agT	p.S306S		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	306					base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S306S(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		AATAGGCATCGCTCTTGAAGA	0.567								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																													p.S306S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C918T	1						.						122.0	102.0	109.0					1																	226573298		2203	4300	6503	224639921	SO:0001819	synonymous_variant	142	exon7			BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.918C>T	1.37:g.226573298G>A		Somatic		Capture	SOLID	Phase_I	224639921	NM_001618	B1ANJ4|Q8IUZ9	Silent	SNP	ENST00000366794.5	37	CCDS1554.1																																																																																				0.567	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618	
PRSS38	339501	hgsc.bcm.edu	37	1	228033692	228033692	+	Missense_Mutation	SNP	G	G	A	rs147849633	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:228033692G>A	ENST00000366757.3	+	5	788	c.764G>A	c.(763-765)cGc>cAc	p.R255H		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	255	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.R255H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GAATTCAACCGCAGCTGGTTG	0.552													G|||	3	0.000599042	0.0023	0.0	5008	,	,		18413	0.0		0.0	False		,,,				2504	0.0				p.R255H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G764A	1						.	G	HIS/ARG	10,4396	16.8+/-37.8	0,10,2193	57.0	61.0	60.0		764	0.3	0.0	1	dbSNP_134	60	0,8600		0,0,4300	yes	missense	PRSS38	NM_183062.2	29	0,10,6493	AA,AG,GG		0.0,0.227,0.0769	benign	255/327	228033692	10,12996	2203	4300	6503	226100315	SO:0001583	missense	339501	exon5				CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"""Serine peptidases / Serine peptidases"""	29625	protein-coding gene	gene with protein product	"""marapsin 2"""					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.764G>A	1.37:g.228033692G>A	ENSP00000355719:p.Arg255His	Somatic		Capture	SOLID	Phase_I	226100315	NM_183062	Q7RTY6	Missense_Mutation	SNP	ENST00000366757.3	37	CCDS1563.1	.	.	.	.	.	.	.	.	.	.	G	2.488	-0.318129	0.05386	0.00227	0.0	ENSG00000185888	ENST00000366757	T	0.60299	0.2	4.21	0.34	0.15985	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.164120	0.06664	N	0.764935	T	0.37972	0.1023	N	0.13235	0.315	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.21143	-1.0254	10	0.30078	T	0.28	.	7.2233	0.26002	0.6671:0.0:0.3329:0.0	.	255	A1L453	PRS38_HUMAN	H	255	ENSP00000355719:R255H	ENSP00000355719:R255H	R	+	2	0	PRSS38	226100315	0.000000	0.05858	0.000000	0.03702	0.127000	0.20565	0.155000	0.16362	-0.047000	0.13423	-0.471000	0.05019	CGC		0.552	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091981.1	NM_183062	
EPHB2	2048	hgsc.bcm.edu	37	1	23111020	23111020	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:23111020G>A	ENST00000400191.3	+	3	280	c.262G>A	c.(262-264)Gtg>Atg	p.V88M	EPHB2_ENST00000374632.3_Missense_Mutation_p.V88M|EPHB2_ENST00000374627.1_Missense_Mutation_p.V82M|EPHB2_ENST00000374630.3_Missense_Mutation_p.V88M|EPHB2_ENST00000544305.1_Missense_Mutation_p.V88M	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	88	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)	p.V88M(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCGCATCCACGTGGAGATGAA	0.567																																					p.V88M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G262A	1						.						61.0	56.0	58.0					1																	23111020		2203	4300	6503	22983607	SO:0001583	missense	2048	exon3			AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.262G>A	1.37:g.23111020G>A	ENSP00000383053:p.Val88Met	Somatic		Capture	SOLID	Phase_I	22983607	NM_017449	O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37		.	.	.	.	.	.	.	.	.	.	G	21.9	4.221510	0.79464	.	.	ENSG00000133216	ENST00000374625;ENST00000544305;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T;T	0.06142	3.34;3.34;3.34;3.34;3.34	5.29	4.38	0.52667	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.26122	0.0637	M	0.82132	2.575	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;0.999;0.999;0.99	D;D;D;D	0.76071	0.987;0.975;0.975;0.924	T	0.03453	-1.1035	10	0.87932	D	0	.	14.1649	0.65471	0.0:0.0:0.8489:0.1511	.	88;88;106;88	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	M	88;88;88;88;88;82	ENSP00000444174:V88M;ENSP00000363761:V88M;ENSP00000383053:V88M;ENSP00000363763:V88M;ENSP00000363758:V82M	ENSP00000363755:V88M	V	+	1	0	EPHB2	22983607	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	9.578000	0.98200	1.459000	0.47892	0.484000	0.47621	GTG		0.567	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449	
HTR1D	3352	hgsc.bcm.edu	37	1	23520463	23520463	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:23520463C>T	ENST00000374619.1	-	1	759	c.250G>A	c.(250-252)Gac>Aac	p.D84N	HTR1D_ENST00000314113.3_Missense_Mutation_p.D84N	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	84					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.D84N(1)		NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	ACCAAGAGGTCGGTGGTGGCC	0.542																																					p.D84N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G250A	1						.						243.0	222.0	229.0					1																	23520463		2203	4300	6503	23393050	SO:0001583	missense	3352	exon1			M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5289	protein-coding gene	gene with protein product		182133	"""5-hydroxytryptamine (serotonin) receptor 1D"""	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.250G>A	1.37:g.23520463C>T	ENSP00000363748:p.Asp84Asn	Somatic		Capture	SOLID	Phase_I	23393050	NM_000864		Missense_Mutation	SNP	ENST00000374619.1	37	CCDS231.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983722	0.93044	.	.	ENSG00000179546	ENST00000314113;ENST00000374619	D;D	0.88431	-2.38;-2.38	5.46	5.46	0.80206	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97012	0.9024	H	0.98612	4.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98516	1.0621	10	0.87932	D	0	.	18.2987	0.90155	0.0:1.0:0.0:0.0	.	84	P28221	5HT1D_HUMAN	N	84	ENSP00000313661:D84N;ENSP00000363748:D84N	ENSP00000313661:D84N	D	-	1	0	HTR1D	23393050	1.000000	0.71417	0.983000	0.44433	0.944000	0.59088	7.818000	0.86416	2.578000	0.87016	0.561000	0.74099	GAC		0.542	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008924.1	NM_000864	
C1orf198	84886	hgsc.bcm.edu	37	1	230979224	230979224	+	Missense_Mutation	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:230979224A>G	ENST00000366663.5	-	3	943	c.803T>C	c.(802-804)gTc>gCc	p.V268A	C1orf198_ENST00000470540.1_Missense_Mutation_p.V230A|C1orf198_ENST00000523410.1_Missense_Mutation_p.V138A|C1orf198_ENST00000427697.2_Missense_Mutation_p.V51A	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	268						cytoplasm (GO:0005737)		p.V268A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GAAGGCCTGGACAGGCTGGGG	0.647																																					p.V230A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T689C	1						.						52.0	51.0	51.0					1																	230979224		2203	4300	6503	229045847	SO:0001583	missense	84886	exon5			BC066649	CCDS1587.1, CCDS44330.1, CCDS44331.1	1q42.2	2008-02-05			ENSG00000119280	ENSG00000119280			25900	protein-coding gene	gene with protein product							Standard	NM_032800		Approved	FLJ14525, MGC10710, FLJ16283, DKFZp667D152, FLJ38847	uc001hub.3	Q9H425	OTTHUMG00000037790	ENST00000366663.5:c.803T>C	1.37:g.230979224A>G	ENSP00000355623:p.Val268Ala	Somatic		Capture	SOLID	Phase_I	229045847	NM_001136494	A8K8R8|B3KTW1|G5EA08	Missense_Mutation	SNP	ENST00000366663.5	37	CCDS1587.1	.	.	.	.	.	.	.	.	.	.	A	0.868	-0.732941	0.03135	.	.	ENSG00000119280	ENST00000366663;ENST00000470540;ENST00000427697;ENST00000523410	T;T;T;T	0.30981	1.55;1.56;1.51;1.55	4.35	-3.9	0.04181	.	1.462660	0.04538	N	0.387521	T	0.14098	0.0341	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33650	-0.9860	10	0.05833	T	0.94	-2.9729	8.9671	0.35883	0.1638:0.321:0.5153:0.0	.	268	Q9H425	CA198_HUMAN	A	268;230;51;138	ENSP00000355623:V268A;ENSP00000428172:V230A;ENSP00000411384:V51A;ENSP00000430967:V138A	ENSP00000355623:V268A	V	-	2	0	C1orf198	229045847	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.452000	0.06787	-0.562000	0.06086	-0.464000	0.05259	GTC		0.647	C1orf198-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092236.2	NM_032800	
LYST	1130	hgsc.bcm.edu	37	1	235972482	235972482	+	Missense_Mutation	SNP	G	G	A	rs542102013		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:235972482G>A	ENST00000389794.3	-	5	1810	c.1636C>T	c.(1636-1638)Cgg>Tgg	p.R546W	LYST_ENST00000389793.2_Missense_Mutation_p.R546W|LYST_ENST00000536965.1_Missense_Mutation_p.R546W			Q99698	LYST_HUMAN	lysosomal trafficking regulator	546					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.R546W(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CAACAGCACCGCTCAGGATAA	0.473													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18330	0.0		0.0	False		,,,				2504	0.0				p.R546W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1636T	1						.						74.0	72.0	73.0					1																	235972482		2203	4300	6503	234039105	SO:0001583	missense	1130	exon5			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.1636C>T	1.37:g.235972482G>A	ENSP00000374444:p.Arg546Trp	Somatic		Capture	SOLID	Phase_I	234039105	NM_000081	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.479329	0.26511	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.76448	-1.02;-1.02;1.01	5.46	3.5	0.40072	.	0.000000	0.85682	D	0.000000	D	0.85522	0.5716	M	0.62723	1.935	0.52501	D	0.999956	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85754	0.1345	10	0.66056	D	0.02	.	13.9134	0.63881	0.0:0.0:0.4713:0.5287	.	546;546	Q99698-3;Q99698	.;LYST_HUMAN	W	546	ENSP00000374444:R546W;ENSP00000374443:R546W;ENSP00000438315:R546W	ENSP00000374443:R546W	R	-	1	2	LYST	234039105	1.000000	0.71417	0.559000	0.28332	0.041000	0.13682	2.843000	0.48238	0.597000	0.29811	0.650000	0.86243	CGG		0.473	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5		
NID1	4811	hgsc.bcm.edu	37	1	236189326	236189326	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:236189326G>A	ENST00000264187.6	-	8	1936	c.1854C>T	c.(1852-1854)tgC>tgT	p.C618C	NID1_ENST00000366595.3_Silent_p.C618C	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	618	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.C618C(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	CATCGTGGACGCATTCCTGGA	0.612																																					p.C618C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1854T	1						.						145.0	133.0	137.0					1																	236189326		2203	4300	6503	234255949	SO:0001819	synonymous_variant	4811	exon8			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.1854C>T	1.37:g.236189326G>A		Somatic		Capture	SOLID	Phase_I	234255949	NM_002508	Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Silent	SNP	ENST00000264187.6	37	CCDS1608.1																																																																																				0.612	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508	
CNST	163882	hgsc.bcm.edu	37	1	246797879	246797879	+	Missense_Mutation	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:246797879A>G	ENST00000366513.4	+	6	1077	c.808A>G	c.(808-810)Aca>Gca	p.T270A	CNST_ENST00000366512.3_Missense_Mutation_p.T270A|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	270					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)	p.T270A(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						AATTTGTGCAACACATCAAGA	0.333																																					p.T270A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A808G	1						.						97.0	101.0	100.0					1																	246797879		2203	4300	6503	244864502	SO:0001583	missense	163882	exon6			AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26486	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 64"""	613439	"""chromosome 1 open reading frame 71"""	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.808A>G	1.37:g.246797879A>G	ENSP00000355470:p.Thr270Ala	Somatic		Capture	SOLID	Phase_I	244864502	NM_152609	Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Missense_Mutation	SNP	ENST00000366513.4	37	CCDS1628.1	.	.	.	.	.	.	.	.	.	.	A	19.27	3.795487	0.70452	.	.	ENSG00000162852	ENST00000366513;ENST00000366512	T;T	0.24908	1.9;1.83	5.36	4.17	0.49024	.	0.153151	0.43579	D	0.000550	T	0.41143	0.1146	M	0.74881	2.28	0.80722	D	1	D;D	0.61697	0.99;0.99	P;P	0.57152	0.741;0.814	T	0.37033	-0.9723	10	0.72032	D	0.01	-0.2474	8.116	0.30944	0.6764:0.0:0.0:0.3236	.	270;270	Q6PJW8;Q6PJW8-2	CNST_HUMAN;.	A	270	ENSP00000355470:T270A;ENSP00000355469:T270A	ENSP00000355469:T270A	T	+	1	0	CNST	244864502	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	4.162000	0.58177	2.042000	0.60477	0.533000	0.62120	ACA		0.333	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1	NM_152609	
CCDC27	148870	hgsc.bcm.edu	37	1	3688028	3688028	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:3688028C>T	ENST00000294600.2	+	12	1996	c.1912C>T	c.(1912-1914)Ccc>Tcc	p.P638S	SMIM1_ENST00000561886.1_5'Flank|SMIM1_ENST00000444870.2_5'Flank	NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	638								p.P638S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CAAAGTGCCCCCCCTGCAACA	0.557																																					p.P638S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1912T	1						.						89.0	99.0	96.0					1																	3688028		2203	4300	6503	3677888	SO:0001583	missense	148870	exon12				CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.1912C>T	1.37:g.3688028C>T	ENSP00000294600:p.Pro638Ser	Somatic		Capture	SOLID	Phase_I	3677888	NM_152492	Q5TBV3|Q96M50	Missense_Mutation	SNP	ENST00000294600.2	37	CCDS50.1	.	.	.	.	.	.	.	.	.	.	C	7.729	0.698883	0.15106	.	.	ENSG00000162592	ENST00000294600	T	0.21932	1.98	3.99	3.03	0.35002	.	0.130088	0.35040	N	0.003489	T	0.18759	0.0450	L	0.55834	1.745	0.09310	N	0.999995	P	0.36683	0.565	B	0.34242	0.178	T	0.08973	-1.0696	10	0.37606	T	0.19	-12.9058	10.0294	0.42092	0.2023:0.7977:0.0:0.0	.	638	Q2M243	CCD27_HUMAN	S	638	ENSP00000294600:P638S	ENSP00000294600:P638S	P	+	1	0	CCDC27	3677888	0.005000	0.15991	0.013000	0.15412	0.043000	0.13939	0.559000	0.23485	0.754000	0.32968	0.591000	0.81541	CCC		0.557	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492	
DHDDS	79947	hgsc.bcm.edu	37	1	26764697	26764697	+	Silent	SNP	C	C	T	rs577531413		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:26764697C>T	ENST00000236342.7	+	3	195	c.102C>T	c.(100-102)gaC>gaT	p.D34D	DHDDS_ENST00000525682.2_Silent_p.D34D|DHDDS_ENST00000427245.2_Silent_p.D34D|DHDDS_ENST00000374185.3_Silent_p.D34D|DHDDS_ENST00000531955.1_3'UTR|DHDDS_ENST00000526219.1_Silent_p.D34D|DHDDS_ENST00000360009.2_Silent_p.D34D			Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	34					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	transferase activity, transferring alkyl or aryl (other than methyl) groups (GO:0016765)	p.D34D(1)		breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		TCATAATGGACGGGAACCGTC	0.522													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20462	0.0		0.0	False		,,,				2504	0.0				p.D34D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C102T	1						.						122.0	107.0	112.0					1																	26764697		2203	4300	6503	26637284	SO:0001819	synonymous_variant	79947	exon3			AK023164	CCDS281.1, CCDS282.1, CCDS57984.1, CCDS57983.1	1p35.3	2014-01-28			ENSG00000117682	ENSG00000117682			20603	protein-coding gene	gene with protein product		608172				12591616	Standard	NM_024887		Approved	HDS, FLJ13102, DS, RP59	uc001bmk.3	Q86SQ9	OTTHUMG00000003554	ENST00000236342.7:c.102C>T	1.37:g.26764697C>T		Somatic		Capture	SOLID	Phase_I	26637284	NM_024887	B7Z4B9|B7ZB20|D3DPK7|D3DPK8|D3DPK9|E9KL43|Q5T0A4|Q8NE90|Q9BTG5|Q9BTK3|Q9H905	Silent	SNP	ENST00000236342.7	37	CCDS282.1																																																																																				0.522	DHDDS-011	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392504.1	NM_024887	
GPN2	54707	hgsc.bcm.edu	37	1	27206180	27206180	+	Silent	SNP	G	G	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:27206180G>T	ENST00000374135.4	-	5	1121	c.921C>A	c.(919-921)gcC>gcA	p.A307A	GPN2_ENST00000374133.3_Silent_p.A128A|RP1-50O24.6_ENST00000448791.1_RNA	NM_018066.3	NP_060536.3			GPN-loop GTPase 2									p.A307A(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						ACAGCTGCATGGCTTCCTGCT	0.577																																					p.A307A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C921A	1						.						165.0	117.0	133.0					1																	27206180		2203	4300	6503	27078767	SO:0001819	synonymous_variant	54707	exon5			AK001211	CCDS289.1	1p36.11	2008-04-30	2008-04-30	2008-04-30	ENSG00000142751	ENSG00000142751		"""GPN-loop GTPases"""	25513	protein-coding gene	gene with protein product			"""ATP binding domain 1 family, member B"""	ATPBD1B		12975309	Standard	NM_018066		Approved	FLJ10349	uc001bnd.1	Q9H9Y4	OTTHUMG00000004227	ENST00000374135.4:c.921C>A	1.37:g.27206180G>T		Somatic		Capture	SOLID	Phase_I	27078767	NM_018066		Silent	SNP	ENST00000374135.4	37	CCDS289.1																																																																																				0.577	GPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012175.2	NM_018066	
WASF2	10163	hgsc.bcm.edu	37	1	27741443	27741443	+	Silent	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:27741443A>G	ENST00000430629.2	-	6	767	c.552T>C	c.(550-552)gaT>gaC	p.D184D	WASF2_ENST00000536657.1_Silent_p.D184D	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	184					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)	p.D184D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		GATTTGGATTATCTTTCTTTT	0.368																																					p.D184D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T552C	1						.						141.0	134.0	136.0					1																	27741443		2203	4300	6503	27614030	SO:0001819	synonymous_variant	10163	exon6			AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.552T>C	1.37:g.27741443A>G		Somatic		Capture	SOLID	Phase_I	27614030	NM_006990	B4DZN0|O60794|Q9UDY7	Silent	SNP	ENST00000430629.2	37	CCDS304.1																																																																																				0.368	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009516.1	NM_006990	
WASF2	10163	hgsc.bcm.edu	37	1	27755289	27755289	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:27755289G>A	ENST00000430629.2	-	2	327	c.112C>T	c.(112-114)Cga>Tga	p.R38*	WASF2_ENST00000536657.1_Nonsense_Mutation_p.R38*	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	38					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)	p.R38*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		CCCAGCTGTCGGATGACATTT	0.562																																					p.R38X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C112T	1						.						98.0	85.0	89.0					1																	27755289		2203	4300	6503	27627876	SO:0001587	stop_gained	10163	exon2			AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.112C>T	1.37:g.27755289G>A	ENSP00000396211:p.Arg38*	Somatic		Capture	SOLID	Phase_I	27627876	NM_006990	B4DZN0|O60794|Q9UDY7	Nonsense_Mutation	SNP	ENST00000430629.2	37	CCDS304.1	.	.	.	.	.	.	.	.	.	.	G	36	5.781649	0.96929	.	.	ENSG00000158195	ENST00000430629;ENST00000536657	.	.	.	5.89	4.93	0.64822	.	0.058199	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5833	15.526	0.75905	0.0:0.0:0.8611:0.1389	.	.	.	.	X	38	.	ENSP00000396211:R38X	R	-	1	2	WASF2	27627876	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.555000	0.82223	2.793000	0.96121	0.655000	0.94253	CGA		0.562	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009516.1	NM_006990	
FABP3	2170	hgsc.bcm.edu	37	1	31845852	31845852	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:31845852C>T	ENST00000373713.2	-	1	71	c.10G>A	c.(10-12)Gct>Act	p.A4T		NM_004102.3	NP_004093.1	P05413	FABPH_HUMAN	fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)	4					cholesterol homeostasis (GO:0042632)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid import (GO:0044539)|negative regulation of cell proliferation (GO:0008285)|phospholipid homeostasis (GO:0055091)|positive regulation of phospholipid biosynthetic process (GO:0071073)|regulation of fatty acid oxidation (GO:0046320)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasm (GO:0016528)	cytoskeletal protein binding (GO:0008092)|icosatetraenoic acid binding (GO:0050543)|long-chain fatty acid binding (GO:0036041)|long-chain fatty acid transporter activity (GO:0005324)|oleic acid binding (GO:0070538)	p.A4T(1)		large_intestine(1)|lung(2)|ovary(2)	5		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149)		CCCAGGAAAGCGTCCACCATA	0.592																																					p.A4T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G10A	1						.						82.0	72.0	75.0					1																	31845852		2203	4300	6503	31618439	SO:0001583	missense	2170	exon1			U57623	CCDS342.1	1p33-p32	2013-03-01	2003-09-10		ENSG00000121769	ENSG00000121769		"""Fatty acid binding protein family"""	3557	protein-coding gene	gene with protein product		134651	"""fatty acid binding protein 11"""	MDGI, FABP11		8661024	Standard	NM_004102		Approved	H-FABP, O-FABP	uc001bss.1	P05413	OTTHUMG00000003797	ENST00000373713.2:c.10G>A	1.37:g.31845852C>T	ENSP00000362817:p.Ala4Thr	Somatic		Capture	SOLID	Phase_I	31618439	NM_004102	B2RAB6|Q5VV93|Q99957	Missense_Mutation	SNP	ENST00000373713.2	37	CCDS342.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.242219	0.58995	.	.	ENSG00000121769	ENST00000373713	T	0.46819	0.86	4.71	3.77	0.43336	Calycin-like (1);Calycin (1);	0.183716	0.47455	D	0.000233	T	0.43211	0.1237	M	0.73962	2.25	0.50813	D	0.999896	B	0.14805	0.011	B	0.11329	0.006	T	0.37407	-0.9707	10	0.32370	T	0.25	.	5.9512	0.19248	0.1911:0.7131:0.0:0.0958	.	4	P05413	FABPH_HUMAN	T	4	ENSP00000362817:A4T	ENSP00000362817:A4T	A	-	1	0	FABP3	31618439	0.074000	0.21230	0.996000	0.52242	0.941000	0.58515	1.483000	0.35497	1.306000	0.44926	0.650000	0.86243	GCT		0.592	FABP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010683.1	NM_004102	
LCK	3932	hgsc.bcm.edu	37	1	32740971	32740971	+	Missense_Mutation	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:32740971T>C	ENST00000336890.5	+	5	466	c.328T>C	c.(328-330)Ttc>Ctc	p.F110L	LCK_ENST00000333070.4_Missense_Mutation_p.F110L|LCK_ENST00000373564.3_Missense_Mutation_p.F168L	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	110	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)	p.F168L(1)|p.F110L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	CCAGGAAGGCTTCATCCCCTT	0.642			T	TRB@	T-ALL																																p.F110L			Dom	yes		1	1p35-p34.3	3932	lymphocyte-specific protein tyrosine kinase		L	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T328C	1						.						72.0	64.0	67.0					1																	32740971		2203	4300	6503	32513558	SO:0001583	missense	3932	exon5			M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"""SH2 domain containing"""	6524	protein-coding gene	gene with protein product		153390	"""lymphocyte-specific protein tyrosine kinase"""			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.328T>C	1.37:g.32740971T>C	ENSP00000337825:p.Phe110Leu	Somatic		Capture	SOLID	Phase_I	32513558	NM_001042771	D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Missense_Mutation	SNP	ENST00000336890.5	37	CCDS359.1	.	.	.	.	.	.	.	.	.	.	t	23.4	4.417358	0.83449	.	.	ENSG00000182866	ENST00000336890;ENST00000482949;ENST00000495610;ENST00000373562;ENST00000373557;ENST00000333070;ENST00000436824;ENST00000373564	T;T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09;1.09	5.29	5.29	0.74685	Src homology-3 domain (4);	0.091018	0.48286	D	0.000195	T	0.26231	0.0640	N	0.04705	-0.18	0.45733	D	0.998636	B;B;B;B	0.12013	0.003;0.005;0.002;0.001	B;B;B;B	0.20577	0.03;0.03;0.011;0.011	T	0.09751	-1.0660	10	0.72032	D	0.01	.	14.5669	0.68182	0.0:0.0:0.0:1.0	.	154;168;110;110	E7EN21;Q573B4;P06239-3;P06239	.;.;.;LCK_HUMAN	L	110;168;110;110;154;110;154;168	ENSP00000337825:F110L;ENSP00000431517:F168L;ENSP00000435605:F110L;ENSP00000362663:F110L;ENSP00000362658:F154L;ENSP00000328213:F110L;ENSP00000362665:F168L	ENSP00000328213:F110L	F	+	1	0	LCK	32513558	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.507000	0.53371	2.151000	0.67156	0.454000	0.30748	TTC		0.642	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019616.4	NM_005356	
KIAA0319L	79932	hgsc.bcm.edu	37	1	35928309	35928309	+	Missense_Mutation	SNP	G	G	A	rs538303265		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:35928309G>A	ENST00000325722.3	-	8	1441	c.1207C>T	c.(1207-1209)Cgt>Tgt	p.R403C	KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	403						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R403C(2)		breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CGATTCTTACGGGGCTCTGCA	0.453																																					p.R403C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1207T	1						.						61.0	61.0	61.0					1																	35928309		2203	4300	6503	35700896	SO:0001583	missense	79932	exon8			AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.1207C>T	1.37:g.35928309G>A	ENSP00000318406:p.Arg403Cys	Somatic		Capture	SOLID	Phase_I	35700896	NM_024874	B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Missense_Mutation	SNP	ENST00000325722.3	37	CCDS390.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.411387|5.411387	0.96072|0.96072	.|.	.|.	ENSG00000142687|ENSG00000142687	ENST00000431916|ENST00000325722;ENST00000426982;ENST00000440579	T|T;T;T	0.48201|0.15372	0.82|2.93;2.94;2.43	5.78|5.78	5.78|5.78	0.91487|0.91487	.|Fibronectin, type III (1);PKD/REJ-like protein (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.50222|0.50222	0.1603|0.1603	M|M	0.86502|0.86502	2.82|2.82	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.77557	.|0.983;0.99	T|T	0.55636|0.55636	-0.8110|-0.8110	7|10	0.26408|0.87932	T|D	0.33|0	-9.5641|-9.5641	18.9909|18.9909	0.92791|0.92791	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|403;403	.|Q8IZA0-2;Q8IZA0	.|.;K319L_HUMAN	L|C	232|403	ENSP00000393862:P232L|ENSP00000318406:R403C;ENSP00000395883:R403C;ENSP00000407576:R403C	ENSP00000393862:P232L|ENSP00000318406:R403C	P|R	-|-	2|1	0|0	KIAA0319L|KIAA0319L	35700896|35700896	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	5.154000|5.154000	0.64894|0.64894	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	CCG|CGT		0.453	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874	
STK40	83931	hgsc.bcm.edu	37	1	36820005	36820005	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:36820005G>A	ENST00000373129.3	-	7	989	c.583C>T	c.(583-585)Cac>Tac	p.H195Y	STK40_ENST00000482458.1_5'Flank|STK40_ENST00000373132.3_Missense_Mutation_p.H195Y|STK40_ENST00000373130.3_Missense_Mutation_p.H200Y|STK40_ENST00000359297.2_Missense_Mutation_p.H195Y	NM_032017.1	NP_114406.1	Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	195	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				glycogen metabolic process (GO:0005977)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|regulation of MAPK cascade (GO:0043408)|respiratory system process (GO:0003016)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				AGGTCTCTGTGCACGATATTT	0.517																																					p.H195Y												.	.	0			c.C583T	1						.						206.0	190.0	195.0					1																	36820005		2203	4300	6503	36592592	SO:0001583	missense	83931	exon7			BC008344	CCDS407.1, CCDS60089.1	1p34.3	2008-02-05			ENSG00000196182	ENSG00000196182			21373	protein-coding gene	gene with protein product		609437					Standard	NM_032017		Approved	MGC4796, SgK495	uc001cak.1	Q8N2I9	OTTHUMG00000008238	ENST00000373129.3:c.583C>T	1.37:g.36820005G>A	ENSP00000362221:p.His195Tyr	Somatic		Capture	SOLID	Phase_I	36592592	NM_032017	D3DPS8|Q5VTK8|Q5VTK9|Q6ZMN1|Q8N2J8|Q8N3I6|Q96HN6|Q96I44|Q9BSA3|Q9H7H6	Missense_Mutation	SNP	ENST00000373129.3	37	CCDS407.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.749723	0.89753	.	.	ENSG00000196182	ENST00000373129;ENST00000359297;ENST00000373130;ENST00000373132	D;T;T;D	0.90732	-2.72;0.17;0.17;-2.72	5.36	5.36	0.76844	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.045749	0.85682	D	0.000000	D	0.94817	0.8326	M	0.69248	2.105	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.95185	0.8303	10	0.87932	D	0	-27.463	18.1005	0.89504	0.0:0.0:1.0:0.0	.	195;200;195	Q8N2I9-3;Q8N2I9-4;Q8N2I9	.;.;STK40_HUMAN	Y	195;195;200;195	ENSP00000362221:H195Y;ENSP00000352245:H195Y;ENSP00000362222:H200Y;ENSP00000362224:H195Y	ENSP00000352245:H195Y	H	-	1	0	STK40	36592592	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	9.426000	0.97469	2.516000	0.84829	0.655000	0.94253	CAC		0.517	STK40-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022592.1	NM_032017	
MACF1	23499	hgsc.bcm.edu	37	1	39549943	39549943	+	Missense_Mutation	SNP	G	G	A	rs372116509		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:39549943G>A	ENST00000372915.3	+	1	140	c.53G>A	c.(52-54)cGg>cAg	p.R18Q	MACF1_ENST00000545844.1_Missense_Mutation_p.R18Q|MACF1_ENST00000567887.1_Missense_Mutation_p.R18Q|MACF1_ENST00000602421.1_Missense_Mutation_p.R18Q|MACF1_ENST00000539005.1_Missense_Mutation_p.R18Q|MACF1_ENST00000361689.2_Missense_Mutation_p.R18Q|MACF1_ENST00000484793.1_Missense_Mutation_p.R18Q|MACF1_ENST00000317713.7_Missense_Mutation_p.R18Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	18	Actin-binding.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.R18Q(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CGGAGTGAGCGGTCTTGTCGG	0.647																																					p.R18Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G53A	1						.	G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	69.0	62.0	64.0		53	5.3	1.0	1		64	0,8600		0,0,4300	no	missense	MACF1	NM_012090.4	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		18/5431	39549943	1,13005	2203	4300	6503	39322530	SO:0001583	missense	23499	exon3			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.53G>A	1.37:g.39549943G>A	ENSP00000362006:p.Arg18Gln	Somatic		Capture	SOLID	Phase_I	39322530	NM_012090	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	G	20.7	4.029884	0.75504	2.27E-4	0.0	ENSG00000127603	ENST00000484793;ENST00000545844;ENST00000372915;ENST00000361689;ENST00000404645;ENST00000317713;ENST00000539005	T;T;T;T;T	0.64618	-0.08;-0.05;-0.08;-0.11;0.08	5.35	5.35	0.76521	.	.	.	.	.	T	0.56775	0.2008	N	0.08118	0	0.80722	D	1	D	0.67145	0.996	P	0.56788	0.806	T	0.60454	-0.7260	9	0.33141	T	0.24	.	16.5556	0.84484	0.0:0.0:1.0:0.0	.	18	F8W8Q1	.	Q	18;18;18;18;34;18;18	ENSP00000439537:R18Q;ENSP00000362006:R18Q;ENSP00000354573:R18Q;ENSP00000313438:R18Q;ENSP00000444364:R18Q	ENSP00000313438:R18Q	R	+	2	0	MACF1	39322530	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.948000	0.75965	2.500000	0.84329	0.655000	0.94253	CGG		0.647	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
MACF1	23499	hgsc.bcm.edu	37	1	39806513	39806513	+	Missense_Mutation	SNP	G	G	A	rs372772844		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:39806513G>A	ENST00000372915.3	+	39	10571	c.10484G>A	c.(10483-10485)cGa>cAa	p.R3495Q	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.R3527Q|MACF1_ENST00000564288.1_Missense_Mutation_p.R3490Q|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.R1930Q|MACF1_ENST00000317713.7_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3495					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.R1930Q(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTAGAAGGCCGACTTCAAGAT	0.418																																					p.R1930Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5789A	1						.						66.0	64.0	65.0					1																	39806513		2203	4300	6503	39579100	SO:0001583	missense	23499	exon4			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.10484G>A	1.37:g.39806513G>A	ENSP00000362006:p.Arg3495Gln	Somatic		Capture	SOLID	Phase_I	39579100	NM_033044	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	G	9.353	1.066094	0.20067	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.34072	1.38;1.38	5.14	-4.84	0.03151	.	0.833856	0.10401	N	0.679158	T	0.26304	0.0642	L	0.33485	1.01	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	T	0.15065	-1.0450	10	0.40728	T	0.16	.	15.3383	0.74277	0.3816:0.0:0.6184:0.0	.	3495	Q9UPN3	MACF1_HUMAN	Q	3495;1930	ENSP00000362006:R3495Q;ENSP00000289893:R1930Q	ENSP00000289893:R1930Q	R	+	2	0	MACF1	39579100	0.001000	0.12720	0.014000	0.15608	0.716000	0.41182	0.103000	0.15292	-0.913000	0.03832	-0.384000	0.06662	CGA		0.418	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
NT5C1A	84618	hgsc.bcm.edu	37	1	40126873	40126873	+	Missense_Mutation	SNP	G	G	A	rs202179811		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:40126873G>A	ENST00000235628.1	-	5	618	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	207					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|purine nucleobase metabolic process (GO:0006144)|purine nucleoside monophosphate catabolic process (GO:0009128)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)	p.R207C(1)		breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AAGGCCACGCGCAGCTGACTC	0.622																																					p.R207C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C619T	1						.						59.0	51.0	54.0					1																	40126873		2203	4300	6503	39899460	SO:0001583	missense	84618	exon5			AF331801	CCDS440.1	1p34.3-p33	2008-07-18			ENSG00000116981	ENSG00000116981			17819	protein-coding gene	gene with protein product	"""cytosolic 5' nucleotidase, type 1A"", ""AMP-specific 5'-NT"", ""cytosolic 5'-nucleotidase IA"""	610525				11133996, 11690631	Standard	NM_032526		Approved	CN-I, CN-IA, CN1A, CN1, MGC119199, MGC119201	uc001cdq.1	Q9BXI3	OTTHUMG00000009244	ENST00000235628.1:c.619C>T	1.37:g.40126873G>A	ENSP00000235628:p.Arg207Cys	Somatic		Capture	SOLID	Phase_I	39899460	NM_032526	Q3SYB9|Q5TG98|Q9BWT8	Missense_Mutation	SNP	ENST00000235628.1	37	CCDS440.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272320	0.80580	.	.	ENSG00000116981	ENST00000235628	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.87736	0.6252	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91381	0.5127	9	0.87932	D	0	-4.9323	18.8667	0.92294	0.0:0.0:1.0:0.0	.	207	Q9BXI3	5NT1A_HUMAN	C	207	.	ENSP00000235628:R207C	R	-	1	0	NT5C1A	39899460	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.615000	0.54167	2.543000	0.85770	0.650000	0.86243	CGC		0.622	NT5C1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025626.1	NM_032526	
RLF	6018	hgsc.bcm.edu	37	1	40701950	40701950	+	Silent	SNP	A	A	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:40701950A>C	ENST00000372771.4	+	8	1603	c.1576A>C	c.(1576-1578)Aga>Cga	p.R526R		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	526					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R526R(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			ATATAGAAGAAGAGATTTGAC	0.343																																					p.R526R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1576C	1						.						55.0	60.0	58.0					1																	40701950		2203	4299	6502	40474537	SO:0001819	synonymous_variant	6018	exon8				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.1576A>C	1.37:g.40701950A>C		Somatic		Capture	SOLID	Phase_I	40474537	NM_012421	Q14CQ1|Q9NU60	Silent	SNP	ENST00000372771.4	37	CCDS448.1																																																																																				0.343	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421	
RLF	6018	hgsc.bcm.edu	37	1	40703792	40703792	+	Missense_Mutation	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:40703792A>G	ENST00000372771.4	+	8	3445	c.3418A>G	c.(3418-3420)Acc>Gcc	p.T1140A		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1140					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.T1140A(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TGAATTTGTGACCAGAGAGGC	0.378																																					p.T1140A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3418G	1						.						88.0	95.0	92.0					1																	40703792		2203	4300	6503	40476379	SO:0001583	missense	6018	exon8				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.3418A>G	1.37:g.40703792A>G	ENSP00000361857:p.Thr1140Ala	Somatic		Capture	SOLID	Phase_I	40476379	NM_012421	Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	CCDS448.1	.	.	.	.	.	.	.	.	.	.	A	11.83	1.755044	0.31046	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.47177	0.85	5.85	5.85	0.93711	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.144262	0.64402	D	0.000011	T	0.64983	0.2648	L	0.59436	1.845	0.45439	D	0.998413	D;B	0.89917	1.0;0.199	D;B	0.85130	0.997;0.06	T	0.61569	-0.7036	10	0.31617	T	0.26	-7.5706	16.2343	0.82363	1.0:0.0:0.0:0.0	.	833;1140	F5H2M5;Q13129	.;RLF_HUMAN	A	1140;833	ENSP00000361857:T1140A	ENSP00000361857:T1140A	T	+	1	0	RLF	40476379	1.000000	0.71417	1.000000	0.80357	0.036000	0.12997	5.212000	0.65225	2.234000	0.73211	0.533000	0.62120	ACC		0.378	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421	
RLF	6018	hgsc.bcm.edu	37	1	40705361	40705361	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:40705361G>A	ENST00000372771.4	+	8	5014	c.4987G>A	c.(4987-4989)Gca>Aca	p.A1663T		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1663					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.A1663T(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AGTATTTGATGCAGATACTCT	0.443																																					p.A1663T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4987A	1						.						85.0	83.0	84.0					1																	40705361		2203	4300	6503	40477948	SO:0001583	missense	6018	exon8				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.4987G>A	1.37:g.40705361G>A	ENSP00000361857:p.Ala1663Thr	Somatic		Capture	SOLID	Phase_I	40477948	NM_012421	Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	CCDS448.1	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.332035	0.01298	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.15952	2.38	5.78	1.69	0.24217	.	0.565560	0.19428	N	0.114536	T	0.04952	0.0133	N	0.02539	-0.55	0.34010	D	0.651378	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.002	T	0.22906	-1.0203	10	0.23891	T	0.37	-3.7484	2.4538	0.04524	0.189:0.1073:0.484:0.2198	.	1356;1663	F5H2M5;Q13129	.;RLF_HUMAN	T	1663;1356	ENSP00000361857:A1663T	ENSP00000361857:A1663T	A	+	1	0	RLF	40477948	0.773000	0.28580	0.920000	0.36463	0.287000	0.27160	0.241000	0.18065	0.421000	0.25980	0.655000	0.94253	GCA		0.443	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421	
ZMPSTE24	10269	hgsc.bcm.edu	37	1	40758330	40758330	+	Missense_Mutation	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:40758330A>G	ENST00000372759.3	+	10	1582	c.1417A>G	c.(1417-1419)Aag>Gag	p.K473E		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	473					CAAX-box protein processing (GO:0071586)|nuclear envelope organization (GO:0006998)|prenylated protein catabolic process (GO:0030327)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metalloexopeptidase activity (GO:0008235)	p.K473E(1)		endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			GAAAACTATGAAGCAACACTG	0.393																																					p.K473E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1417G	1						.						82.0	83.0	82.0					1																	40758330		2203	4300	6503	40530917	SO:0001583	missense	10269	exon10			Y13834	CCDS449.1	1p34	2014-09-17	2012-12-10		ENSG00000084073	ENSG00000084073	3.4.24.84		12877	protein-coding gene	gene with protein product	"""Hutchinson-Gilford progeria syndrome"", ""CAAX prenyl protease 1 homolog"""	606480	"""zinc metalloproteinase (STE24 homolog, yeast)"", ""zinc metallopeptidase (STE24 homolog, yeast)"", ""zinc metallopeptidase STE24 homolog (S. cerevisiae)"""			10373325, 9700155, 16671095	Standard	NM_005857		Approved	FACE-1, Ste24p, STE24, HGPS, PRO1	uc001cfg.4	O75844	OTTHUMG00000005762	ENST00000372759.3:c.1417A>G	1.37:g.40758330A>G	ENSP00000361845:p.Lys473Glu	Somatic		Capture	SOLID	Phase_I	40530917	NM_005857	B3KQI7|D3DPU7|Q8NDZ8|Q9UBQ2	Missense_Mutation	SNP	ENST00000372759.3	37	CCDS449.1	.	.	.	.	.	.	.	.	.	.	A	15.91	2.973500	0.53720	.	.	ENSG00000084073	ENST00000372759	D	0.83992	-1.79	5.37	5.37	0.77165	.	0.046188	0.85682	D	0.000000	T	0.77170	0.4091	N	0.16903	0.455	0.80722	D	1	P	0.51653	0.947	P	0.50934	0.654	T	0.74266	-0.3721	10	0.14656	T	0.56	-35.2688	15.3741	0.74590	1.0:0.0:0.0:0.0	.	473	O75844	FACE1_HUMAN	E	473	ENSP00000361845:K473E	ENSP00000361845:K473E	K	+	1	0	ZMPSTE24	40530917	1.000000	0.71417	0.962000	0.40283	0.338000	0.28826	8.879000	0.92398	2.040000	0.60383	0.383000	0.25322	AAG		0.393	ZMPSTE24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015766.1		
ST3GAL3	6487	hgsc.bcm.edu	37	1	44360084	44360084	+	Missense_Mutation	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:44360084A>G	ENST00000361392.4	+	6	509	c.332A>G	c.(331-333)gAt>gGt	p.D111G	ST3GAL3_ENST00000335430.6_Missense_Mutation_p.D95G|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000372367.1_Missense_Mutation_p.D110G|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.D95G|ST3GAL3_ENST00000528371.1_Missense_Mutation_p.D95G|ST3GAL3_ENST00000372377.4_Missense_Mutation_p.D111G|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.D180G|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.D149G|ST3GAL3_ENST00000531451.1_Missense_Mutation_p.D95G|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000372365.1_Missense_Mutation_p.D111G|ST3GAL3_ENST00000372362.2_Missense_Mutation_p.D111G|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.D111G|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.D149G|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.D80G|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.D111G|ST3GAL3_ENST00000361812.4_Missense_Mutation_p.D126G|ST3GAL3_ENST00000372366.1_Missense_Mutation_p.D110G|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.D126G|ST3GAL3_ENST00000533933.1_Missense_Mutation_p.D111G|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.D80G|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.D165G|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.D165G|ST3GAL3_ENST00000330208.2_Missense_Mutation_p.D111G|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.D95G|ST3GAL3_ENST00000545417.1_Missense_Mutation_p.D126G|ST3GAL3_ENST00000262915.3_Missense_Mutation_p.D180G	NM_001270459.1|NM_006279.3|NM_174964.2	NP_001257388.1|NP_006270.1|NP_777624.1	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	111					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|N-acetyllactosaminide alpha-2,3-sialyltransferase activity (GO:0008118)	p.D180G(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				ATGTTCCTGGATGACTCCTTT	0.502																																					p.D126G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A377G	1						.						196.0	180.0	186.0					1																	44360084		2203	4300	6503	44132671	SO:0001583	missense	6487	exon6			L23768	CCDS492.1, CCDS493.1, CCDS494.1, CCDS495.1, CCDS496.1, CCDS497.1, CCDS498.1, CCDS499.1, CCDS500.1, CCDS53310.1, CCDS57988.1, CCDS57989.1, CCDS57990.1, CCDS57991.1, CCDS57992.1, CCDS57993.1, CCDS57994.1	1p34.1	2014-01-31	2005-02-07	2005-02-07	ENSG00000126091	ENSG00000126091	2.4.99.6	"""Sialyltransferases"""	10866	protein-coding gene	gene with protein product	"""ST3Gal III"""	606494	"""sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)"", ""mental retardation, non-syndromic, autosomal recessive, 12"""	SIAT6, MRT12		8333853, 21907012	Standard	NM_174963		Approved		uc001cjz.4	Q11203	OTTHUMG00000007561	ENST00000361392.4:c.332A>G	1.37:g.44360084A>G	ENSP00000355341:p.Asp111Gly	Somatic		Capture	SOLID	Phase_I	44132671	NM_174964	A9Z1W2|D3DPX8|Q5T4W9|Q5T4X0|Q5T4X7|Q5T4X8|Q5T4X9|Q5T4Y0|Q5T4Y2|Q5T4Y3|Q5T4Y4|Q86UR6|Q86UR7|Q86UR8|Q86UR9|Q86US0|Q86US1|Q86US2|Q8IX41|Q8IX42|Q8IX43|Q8IX44|Q8IX45|Q8IX46|Q8IX47|Q8IX48|Q8IX49|Q8IX50|Q8IX51|Q8IX52|Q8IX53|Q8IX54|Q8IX55|Q8IX56|Q8IX57|Q8IX58	Missense_Mutation	SNP	ENST00000361392.4	37	CCDS492.1	.	.	.	.	.	.	.	.	.	.	a	21.1	4.093704	0.76870	.	.	ENSG00000126091	ENST00000361392;ENST00000361400;ENST00000262915;ENST00000372375;ENST00000351035;ENST00000372374;ENST00000353126;ENST00000545417;ENST00000330208;ENST00000335430;ENST00000372377;ENST00000347631;ENST00000361812;ENST00000372362;ENST00000531451;ENST00000372369;ENST00000361746;ENST00000372367;ENST00000372366;ENST00000372365;ENST00000372368;ENST00000372372;ENST00000528371;ENST00000531993;ENST00000533933;ENST00000332628	T;T;T;T;T;T;T;D;D;T;T;T;D;D;D;T;T;T;T;T;T;T;T;T;T;T	0.81821	1.56;1.56;1.56;1.56;1.56;1.56;1.56;-1.54;-1.51;1.56;-1.49;1.56;-1.54;-1.51;-1.5;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56	4.99	4.99	0.66335	.	0.264886	0.42172	N	0.000753	D	0.87438	0.6177	M	0.63428	1.95	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.982;1.0;0.997;1.0;0.998;0.999;1.0;0.999;1.0;1.0;1.0;1.0;0.998;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.999;0.991;0.968;0.999;0.958;0.999;0.991;0.996;0.999;0.986;0.999;0.996;1.0;0.996;0.991;1.0	D	0.87670	0.2540	10	0.49607	T	0.09	.	13.6616	0.62370	1.0:0.0:0.0:0.0	.	111;64;95;110;95;110;80;111;126;111;149;95;165;111;180;95;126	Q11203-5;Q11203-21;Q11203-17;Q11203-24;Q11203-16;Q11203-23;Q11203-7;Q11203-12;Q5T4Y1;Q11203-8;Q11203-19;Q11203-15;Q11203-13;Q11203;Q11203-4;Q11203-18;Q5T4W8	.;.;.;.;.;.;.;.;.;.;.;.;.;SIAT6_HUMAN;.;.;.	G	111;95;180;165;149;80;111;126;111;95;111;126;126;111;95;111;180;110;110;111;165;149;95;95;111;80	ENSP00000355341:D111G;ENSP00000354748:D95G;ENSP00000262915:D180G;ENSP00000361450:D165G;ENSP00000316999:D149G;ENSP00000361449:D80G;ENSP00000330463:D111G;ENSP00000439634:D126G;ENSP00000333494:D111G;ENSP00000335633:D95G;ENSP00000361452:D111G;ENSP00000317192:D126G;ENSP00000355201:D126G;ENSP00000361437:D111G;ENSP00000435603:D95G;ENSP00000361444:D111G;ENSP00000354657:D180G;ENSP00000361442:D110G;ENSP00000361441:D110G;ENSP00000361440:D111G;ENSP00000361443:D165G;ENSP00000361447:D149G;ENSP00000434876:D95G;ENSP00000432682:D95G;ENSP00000432965:D111G;ENSP00000329755:D80G	ENSP00000262915:D180G	D	+	2	0	ST3GAL3	44132671	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.808000	0.86044	1.890000	0.54733	0.398000	0.26397	GAT		0.502	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019964.1	NM_174963	
SLC6A9	6536	hgsc.bcm.edu	37	1	44463599	44463599	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:44463599C>T	ENST00000360584.2	-	13	2045	c.1854G>A	c.(1852-1854)ctG>ctA	p.L618L	SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000475075.2_Silent_p.L434L|SLC6A9_ENST00000372310.3_Silent_p.L545L|SLC6A9_ENST00000357730.2_Silent_p.L564L	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	618					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.L545L(1)|p.L618L(1)		endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GGACGGAGGACAGAGCCATGA	0.597																																					p.L618L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1854A	1						.						140.0	138.0	138.0					1																	44463599		2203	4300	6503	44236186	SO:0001819	synonymous_variant	6536	exon13			S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.1854G>A	1.37:g.44463599C>T		Somatic		Capture	SOLID	Phase_I	44236186	NM_201649	A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Silent	SNP	ENST00000360584.2	37	CCDS41317.1																																																																																				0.597	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2	NM_201649	
KIF2C	11004	hgsc.bcm.edu	37	1	45228107	45228107	+	Missense_Mutation	SNP	C	C	T	rs199917085		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:45228107C>T	ENST00000372224.4	+	18	1954	c.1841C>T	c.(1840-1842)gCg>gTg	p.A614V	KIF2C_ENST00000372218.4_Missense_Mutation_p.A573V|RP11-269F19.2_ENST00000428791.1_RNA|KIF2C_ENST00000372222.3_Missense_Mutation_p.A501V|RP11-269F19.2_ENST00000440985.1_RNA|KIF2C_ENST00000372217.1_Missense_Mutation_p.A560V	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	614					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)	p.A614V(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					TCTAACGGGGCGCTGATTCCA	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		20268	0.0		0.0	False		,,,				2504	0.001				p.A614V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1841T	1						.						65.0	66.0	66.0					1																	45228107		2203	4300	6503	45000694	SO:0001583	missense	11004	exon18			U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"""Kinesins"""	6393	protein-coding gene	gene with protein product		604538	"""kinesin-like 6 (mitotic centromere-associated kinesin)"""	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.1841C>T	1.37:g.45228107C>T	ENSP00000361298:p.Ala614Val	Somatic		Capture	SOLID	Phase_I	45000694	NM_006845	B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	ENST00000372224.4	37	CCDS512.1	.	.	.	.	.	.	.	.	.	.	C	9.678	1.148626	0.21288	.	.	ENSG00000142945	ENST00000372224;ENST00000372218;ENST00000372222;ENST00000372217	T;T;T;T	0.74842	-0.87;-0.71;-0.88;-0.88	6.08	3.14	0.36123	.	1.181470	0.06017	N	0.650594	T	0.54532	0.1864	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.001;0.003;0.001	T	0.41466	-0.9507	10	0.29301	T	0.29	.	6.2177	0.20663	0.2642:0.5954:0.0:0.1404	.	573;560;614	B7Z6Q6;Q99661-2;Q99661	.;.;KIF2C_HUMAN	V	614;573;501;560	ENSP00000361298:A614V;ENSP00000361292:A573V;ENSP00000361296:A501V;ENSP00000361291:A560V	ENSP00000361291:A560V	A	+	2	0	KIF2C	45000694	0.000000	0.05858	0.004000	0.12327	0.025000	0.11179	0.502000	0.22594	0.421000	0.25980	-0.169000	0.13324	GCG		0.542	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1	NM_006845	
GPBP1L1	60313	hgsc.bcm.edu	37	1	46105991	46105991	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:46105991G>A	ENST00000290795.3	-	7	1856	c.635C>T	c.(634-636)gCt>gTt	p.A212V	GPBP1L1_ENST00000355105.3_Missense_Mutation_p.A212V			Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	212					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A212V(1)	GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					GGTGAATGCAGCAGAGAAGGC	0.473																																					p.A212V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C635T	1						.						271.0	252.0	258.0					1																	46105991		2203	4300	6503	45878578	SO:0001583	missense	60313	exon8				CCDS528.1	1p34.1	2008-02-05			ENSG00000159592	ENSG00000159592			28843	protein-coding gene	gene with protein product						12477932	Standard	NM_021639		Approved	SP192	uc001coq.3	Q9HC44	OTTHUMG00000040990	ENST00000290795.3:c.635C>T	1.37:g.46105991G>A	ENSP00000290795:p.Ala212Val	Somatic		Capture	SOLID	Phase_I	45878578	NM_021639	D3DQ10|Q9H751	Missense_Mutation	SNP	ENST00000290795.3	37	CCDS528.1	.	.	.	.	.	.	.	.	.	.	G	31	5.058804	0.93846	.	.	ENSG00000159592	ENST00000290795;ENST00000355105	T;T	0.25579	1.79;1.79	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.50446	0.1616	L	0.60455	1.87	0.58432	D	0.999999	D	0.71674	0.998	D	0.80764	0.994	T	0.36016	-0.9765	10	0.51188	T	0.08	-5.0883	20.1731	0.98165	0.0:0.0:1.0:0.0	.	212	Q9HC44	GPBL1_HUMAN	V	212	ENSP00000290795:A212V;ENSP00000347224:A212V	ENSP00000290795:A212V	A	-	2	0	GPBP1L1	45878578	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.378000	0.97191	2.768000	0.95171	0.655000	0.94253	GCT		0.473	GPBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098375.1	NM_021639	
ZCCHC11	23318	hgsc.bcm.edu	37	1	52943384	52943384	+	Silent	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:52943384A>G	ENST00000371544.3	-	12	2281	c.2019T>C	c.(2017-2019)atT>atC	p.I673I	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Silent_p.I673I	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	673	PAP-associated 1.				cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.I673I(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TCTCACCTTCAATGGCTATTC	0.328																																					p.I673I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2019C	1						.						87.0	92.0	90.0					1																	52943384		2203	4300	6503	52715972	SO:0001819	synonymous_variant	23318	exon12			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.2019T>C	1.37:g.52943384A>G		Somatic		Capture	SOLID	Phase_I	52715972	NM_001009881	A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Silent	SNP	ENST00000371544.3	37	CCDS30716.1																																																																																				0.328	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288	
SLC1A7	6512	hgsc.bcm.edu	37	1	53569181	53569181	+	Silent	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:53569181A>G	ENST00000371494.4	-	5	661	c.534T>C	c.(532-534)ccT>ccC	p.P178P		NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	178					dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.P178P(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)		TCCGCCGAGGAGGGGCCTCCT	0.632																																					p.P178P	NSCLC(128;80 1811 21245 38490 51715)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T534C	1						.						38.0	44.0	42.0					1																	53569181		2203	4300	6503	53341769	SO:0001819	synonymous_variant	6512	exon5			U76362	CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1	1p32.3	2013-05-22			ENSG00000162383	ENSG00000162383		"""Solute carriers"""	10945	protein-coding gene	gene with protein product		604471				9108121	Standard	NM_001287597		Approved	EAAT5	uc001cuy.3	O00341	OTTHUMG00000008937	ENST00000371494.4:c.534T>C	1.37:g.53569181A>G		Somatic		Capture	SOLID	Phase_I	53341769	NM_006671	Q5VVZ0|Q969Z8|Q9BW45	Silent	SNP	ENST00000371494.4	37	CCDS574.1																																																																																				0.632	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024746.1	NM_006671	
LDLRAD1	388633	hgsc.bcm.edu	37	1	54479959	54479959	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:54479959G>A	ENST00000371360.1	-	3	169	c.152C>T	c.(151-153)gCg>gTg	p.A51V	LDLRAD1_ENST00000420619.1_Intron|LDLRAD1_ENST00000545928.1_Intron|LDLRAD1_ENST00000371362.3_Intron	NM_001010978.2	NP_001010978.2	Q5T700	LRAD1_HUMAN	low density lipoprotein receptor class A domain containing 1	51						integral component of membrane (GO:0016021)		p.A51V(1)		large_intestine(3)|prostate(1)|skin(3)	7						GATGAGGGCCGCCACAGTTGC	0.682																																					p.A51V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C152T	1						.						25.0	25.0	25.0					1																	54479959		2152	4196	6348	54252547	SO:0001583	missense	388633	exon3				CCDS30725.1, CCDS60145.1, CCDS60146.1, CCDS60147.1	1p32.3	2008-02-05	2005-10-07		ENSG00000203985	ENSG00000203985			32069	protein-coding gene	gene with protein product			"""low density lipoprotein receptor A domain containing 1"""				Standard	NM_001010978		Approved		uc001cwm.2	Q5T700	OTTHUMG00000008433	ENST00000371360.1:c.152C>T	1.37:g.54479959G>A	ENSP00000360411:p.Ala51Val	Somatic		Capture	SOLID	Phase_I	54252547	NM_001010978	A0PJY0|B7ZME3|Q5T6Z9	Missense_Mutation	SNP	ENST00000371360.1	37	CCDS30725.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.513613	0.27123	.	.	ENSG00000203985	ENST00000371360	.	.	.	4.57	4.57	0.56435	.	0.137867	0.32301	N	0.006287	T	0.28797	0.0714	L	0.43152	1.355	0.30789	N	0.741146	P	0.43287	0.802	B	0.35770	0.21	T	0.18272	-1.0342	9	0.13470	T	0.59	-14.0157	10.8466	0.46746	0.0921:0.0:0.9079:0.0	.	51	Q5T700	LRAD1_HUMAN	V	51	.	ENSP00000360411:A51V	A	-	2	0	LDLRAD1	54252547	0.018000	0.18449	0.034000	0.17996	0.029000	0.11900	1.040000	0.30278	2.547000	0.85894	0.561000	0.74099	GCG		0.682	LDLRAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023243.1	NM_001010978	
C1orf168	199920	hgsc.bcm.edu	37	1	57258369	57258369	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:57258369G>A	ENST00000343433.6	-	2	197	c.117C>T	c.(115-117)gaC>gaT	p.D39D	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	39								p.D39D(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TGCCTCCAATGTCACCCTTTG	0.468																																					p.D39D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C117T	1						.						165.0	161.0	163.0					1																	57258369		2203	4300	6503	57030957	SO:0001819	synonymous_variant	199920	exon2			BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.117C>T	1.37:g.57258369G>A		Somatic		Capture	SOLID	Phase_I	57030957	NM_001004303	Q63HM3|Q6ZUY6	Silent	SNP	ENST00000343433.6	37	CCDS30729.1																																																																																				0.468	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303	
ROR1	4919	hgsc.bcm.edu	37	1	64608332	64608332	+	Splice_Site	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:64608332C>T	ENST00000371079.1	+	7	1548	c.1173C>T	c.(1171-1173)tgC>tgT	p.C391C	ROR1_ENST00000371080.1_Silent_p.C391C|ROR1_ENST00000545203.1_5'UTR|RP11-24J23.2_ENST00000424995.1_RNA	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	391	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.C391C(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						TCCCAGCGTGCGGTAAATAGA	0.448																																					p.C391C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1173T	1						.						47.0	46.0	46.0					1																	64608332		2203	4300	6503	64380920	SO:0001630	splice_region_variant	4919	exon7			M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.1174+1C>T	1.37:g.64608332C>T		Somatic		Capture	SOLID	Phase_I	64380920	NM_005012	Q5VVX6|Q66K77|Q92776	Silent	SNP	ENST00000371079.1	37	CCDS626.1																																																																																				0.448	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	NM_005012	Silent
CACHD1	57685	hgsc.bcm.edu	37	1	65157208	65157208	+	Silent	SNP	G	G	A	rs199527729		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:65157208G>A	ENST00000371073.2	+	27	3789	c.3789G>A	c.(3787-3789)gcG>gcA	p.A1263A	CACHD1_ENST00000290039.5_Silent_p.A1212A|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1263					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)		p.A1212A(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ACTTACAGGCGGCCGTCACGG	0.522																																					p.A1212A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3636A	1						.	G		0,4406		0,0,2203	108.0	88.0	95.0		3636	-9.0	0.4	1		95	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	CACHD1	NM_020925.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		1212/1224	65157208	2,13004	2203	4300	6503	64929796	SO:0001819	synonymous_variant	57685	exon27			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.3789G>A	1.37:g.65157208G>A		Somatic		Capture	SOLID	Phase_I	64929796	NM_020925	Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Silent	SNP	ENST00000371073.2	37																																																																																					0.522	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925	
PDE4B	5142	hgsc.bcm.edu	37	1	66713281	66713281	+	Silent	SNP	C	C	T	rs139030347		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:66713281C>T	ENST00000329654.4	+	4	607	c.420C>T	c.(418-420)agC>agT	p.S140S	PDE4B_ENST00000371049.3_Silent_p.S140S|PDE4B_ENST00000423207.2_Silent_p.S125S	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	140					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.S140S(1)|p.S125S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	GATCAGACAGCGACTATGACT	0.527																																					p.S140S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C420T	1						.						129.0	119.0	122.0					1																	66713281		2203	4300	6503	66485869	SO:0001819	synonymous_variant	5142	exon4			L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.420C>T	1.37:g.66713281C>T		Somatic		Capture	SOLID	Phase_I	66485869	NM_002600	A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Silent	SNP	ENST00000329654.4	37	CCDS632.1																																																																																				0.527	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3	NM_002600	
FUBP1	8880	hgsc.bcm.edu	37	1	78432617	78432617	+	Missense_Mutation	SNP	C	C	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:78432617C>A	ENST00000370768.2	-	6	447	c.366G>T	c.(364-366)caG>caT	p.Q122H	FUBP1_ENST00000370767.1_Missense_Mutation_p.Q122H|FUBP1_ENST00000436586.2_Missense_Mutation_p.Q143H	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	122	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)	p.Q122H(1)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TGCGTGAGATCTGTTCACCTC	0.313			"""F, N"""		oligodendroglioma																																p.Q122H			Rec	yes		1	1p13.1	8880	far upstream element (FUSE) binding protein 1		O	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G366T	1						.						65.0	62.0	63.0					1																	78432617		2203	4299	6502	78205205	SO:0001583	missense	8880	exon6			U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.366G>T	1.37:g.78432617C>A	ENSP00000359804:p.Gln122His	Somatic		Capture	SOLID	Phase_I	78205205	NM_003902	Q12828	Missense_Mutation	SNP	ENST00000370768.2	37	CCDS683.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.348174	0.61183	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586;ENST00000421641	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.46	2.56	0.30785	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.34832	0.0911	L	0.53671	1.685	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	T	0.16482	-1.0401	10	0.66056	D	0.02	-8.1547	10.0764	0.42362	0.0:0.7251:0.0:0.2749	.	143;122	B4DT31;Q96AE4	.;FUBP1_HUMAN	H	121;122;122;121;143;142	ENSP00000359803:Q122H;ENSP00000359804:Q122H;ENSP00000389536:Q143H;ENSP00000402630:Q142H	ENSP00000294623:Q121H	Q	-	3	2	FUBP1	78205205	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.957000	0.29215	0.354000	0.24105	-0.136000	0.14681	CAG		0.313	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902	
LPAR3	23566	hgsc.bcm.edu	37	1	85279846	85279846	+	Missense_Mutation	SNP	C	C	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:85279846C>A	ENST00000440886.1	-	2	783	c.745G>T	c.(745-747)Gtg>Ttg	p.V249L	LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Missense_Mutation_p.V249L			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	249					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)	p.V249L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						CAGCATACCACAAACGCCCCT	0.572																																					p.V249L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G745T	1						.						40.0	38.0	39.0					1																	85279846		2203	4300	6503	85052434	SO:0001583	missense	23566	exon3			AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	14298	protein-coding gene	gene with protein product		605106	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"""	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.745G>T	1.37:g.85279846C>A	ENSP00000395389:p.Val249Leu	Somatic		Capture	SOLID	Phase_I	85052434	NM_012152	A0AVA3	Missense_Mutation	SNP	ENST00000440886.1	37	CCDS700.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379367	0.61845	.	.	ENSG00000171517	ENST00000440886;ENST00000370611	T;T	0.73152	-0.72;-0.72	5.65	5.65	0.86999	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.61098	0.2320	L	0.41710	1.295	0.48040	D	0.999575	B	0.29531	0.247	B	0.38428	0.273	T	0.63479	-0.6628	10	0.52906	T	0.07	.	18.7052	0.91635	0.0:1.0:0.0:0.0	.	249	Q9UBY5	LPAR3_HUMAN	L	249	ENSP00000395389:V249L;ENSP00000359643:V249L	ENSP00000359643:V249L	V	-	1	0	LPAR3	85052434	1.000000	0.71417	0.955000	0.39395	0.585000	0.36419	4.089000	0.57685	2.667000	0.90743	0.650000	0.86243	GTG		0.572	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152	
BCL10	8915	hgsc.bcm.edu	37	1	85733594	85733594	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:85733594C>A	ENST00000370580.1	-	3	1155	c.418G>T	c.(418-420)Gag>Tag	p.E140*		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	140					adaptive immune response (GO:0002250)|B cell apoptotic process (GO:0001783)|cell death (GO:0008219)|cellular defense response (GO:0006968)|cellular response to mechanical stimulus (GO:0071260)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interleukin-6 biosynthetic process (GO:0042226)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of mature B cell apoptotic process (GO:0002906)|neural tube closure (GO:0001843)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|regulation of T cell receptor signaling pathway (GO:0050856)|response to food (GO:0032094)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell apoptotic process (GO:0070231)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor signaling pathway (GO:0002224)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|NF-kappaB binding (GO:0051059)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.E140*(1)		haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		AAATTACTCTCATCTGAATTT	0.393			T	IGH@	MALT																																p.E140X	NSCLC(34;993 1034 12176 32621 50182)		Dom	yes		1	1p22	8915	B-cell CLL/lymphoma 10		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G418T	1						.						95.0	93.0	94.0					1																	85733594		2203	4300	6503	85506182	SO:0001587	stop_gained	8915	exon3			AJ006288	CCDS704.1	1p22	2008-07-18			ENSG00000142867	ENSG00000142867			989	protein-coding gene	gene with protein product	"""CARD-like apoptotic protein"", ""CARD-containing apoptotic signaling protein"", ""CARD containing molecule enhancing NF-kB"", ""caspase-recruiting domain-containing protein"", ""CARD-containing proapoptotic protein"""	603517				9989495	Standard	NM_003921		Approved	CARMEN, CIPER, mE10, c-E10, CLAP	uc021opd.1	O95999	OTTHUMG00000009965	ENST00000370580.1:c.418G>T	1.37:g.85733594C>A	ENSP00000359612:p.Glu140*	Somatic		Capture	SOLID	Phase_I	85506182	NM_003921	Q5VUF1	Nonsense_Mutation	SNP	ENST00000370580.1	37	CCDS704.1	.	.	.	.	.	.	.	.	.	.	C	45	11.356614	0.99551	.	.	ENSG00000142867	ENST00000370580;ENST00000271015;ENST00000394761	.	.	.	5.98	5.07	0.68467	.	0.348334	0.34088	N	0.004273	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-4.0955	15.4178	0.74983	0.0:0.9333:0.0:0.0667	.	.	.	.	X	140;140;129	.	ENSP00000271015:E140X	E	-	1	0	BCL10	85506182	1.000000	0.71417	0.997000	0.53966	0.958000	0.62258	4.092000	0.57707	1.537000	0.49254	0.591000	0.81541	GAG		0.393	BCL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027612.1	NM_003921	
CLCA2	9635	hgsc.bcm.edu	37	1	86905952	86905952	+	Missense_Mutation	SNP	C	C	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:86905952C>A	ENST00000370565.4	+	8	1487	c.1325C>A	c.(1324-1326)tCc>tAc	p.S442Y		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	442	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)	p.S442Y(1)		NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		ACAATTCACTCCATTGCCCTG	0.423																																					p.S442Y	Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1325A	1						.						122.0	114.0	116.0					1																	86905952		2203	4300	6503	86678540	SO:0001583	missense	9635	exon8				CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.1325C>A	1.37:g.86905952C>A	ENSP00000359596:p.Ser442Tyr	Somatic		Capture	SOLID	Phase_I	86678540	NM_006536	A8K2T3|Q9Y6N2	Missense_Mutation	SNP	ENST00000370565.4	37	CCDS708.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301709	0.40694	.	.	ENSG00000137975	ENST00000370565	T	0.14640	2.49	5.77	5.77	0.91146	von Willebrand factor, type A (3);	0.560646	0.18561	N	0.137627	T	0.08268	0.0206	L	0.34521	1.04	0.37483	D	0.916073	P	0.43542	0.81	B	0.44085	0.44	T	0.04767	-1.0928	10	0.59425	D	0.04	-13.6158	12.8783	0.58001	0.0:0.9251:0.0:0.0749	.	442	Q9UQC9	CLCA2_HUMAN	Y	442	ENSP00000359596:S442Y	ENSP00000359596:S442Y	S	+	2	0	CLCA2	86678540	1.000000	0.71417	0.991000	0.47740	0.418000	0.31294	3.701000	0.54793	2.728000	0.93425	0.655000	0.94253	TCC		0.423	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536	
CLCA1	1179	hgsc.bcm.edu	37	1	86942144	86942144	+	Silent	SNP	C	C	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:86942144C>G	ENST00000234701.3	+	5	816	c.465C>G	c.(463-465)gtC>gtG	p.V155V	CLCA1_ENST00000394711.1_Silent_p.V155V			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	155	Metalloprotease domain. {ECO:0000269|PubMed:23112050}.				calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)	p.V155V(1)		NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GGGCATTTGTCCATGAGTGGG	0.353																																					p.V155V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C465G	1						.						98.0	97.0	98.0					1																	86942144		2203	4300	6503	86714732	SO:0001819	synonymous_variant	1179	exon4				CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.465C>G	1.37:g.86942144C>G		Somatic		Capture	SOLID	Phase_I	86714732	NM_001285	B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Silent	SNP	ENST00000234701.3	37	CCDS709.1																																																																																				0.353	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285	
CCBL2	56267	hgsc.bcm.edu	37	1	89401897	89401897	+	Missense_Mutation	SNP	A	A	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:89401897A>T	ENST00000260508.4	-	14	1671	c.1334T>A	c.(1333-1335)aTc>aAc	p.I445N	CCBL2_ENST00000370491.3_Missense_Mutation_p.I411N|CCBL2_ENST00000370485.2_3'UTR|CCBL2_ENST00000446900.2_5'UTR	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	445					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	mitochondrion (GO:0005739)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|kynurenine-glyoxylate transaminase activity (GO:0047315)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)	p.I411N(1)|p.I445N(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)		TGCCTTGATGATTTCTTCAGC	0.338																																					p.I411N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1232A	1						.						106.0	96.0	99.0					1																	89401897		2203	4300	6503	89174485	SO:0001583	missense	56267	exon13			AF091090	CCDS30766.1, CCDS30767.1	1p22.2	2009-06-23			ENSG00000137944	ENSG00000137944			33238	protein-coding gene	gene with protein product		610656				16376499	Standard	NM_001008662		Approved	RBM1, RP11-82K18.3, KAT3	uc001dmp.2	Q6YP21	OTTHUMG00000010617	ENST00000260508.4:c.1334T>A	1.37:g.89401897A>T	ENSP00000260508:p.Ile445Asn	Somatic		Capture	SOLID	Phase_I	89174485	NM_001008662	B3KQ13|O95335|Q5JS27|Q5T9T7|Q5T9T8|Q6AI27|Q6ICW1|Q9BVY5	Missense_Mutation	SNP	ENST00000260508.4	37	CCDS30766.1	.	.	.	.	.	.	.	.	.	.	A	18.74	3.689104	0.68271	.	.	ENSG00000137944	ENST00000370491;ENST00000260508	T;T	0.44083	0.93;0.93	5.69	5.69	0.88448	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.56848	0.2013	M	0.78285	2.405	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	T	0.59815	-0.7383	10	0.44086	T	0.13	-35.1152	14.9334	0.70935	1.0:0.0:0.0:0.0	.	445	Q6YP21	KAT3_HUMAN	N	411;445	ENSP00000359522:I411N;ENSP00000260508:I445N	ENSP00000260508:I445N	I	-	2	0	CCBL2	89174485	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	5.930000	0.70104	2.170000	0.68504	0.459000	0.35465	ATC		0.338	CCBL2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000029300.3	NM_001008661	
GBP3	2635	hgsc.bcm.edu	37	1	89477538	89477538	+	Silent	SNP	G	G	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:89477538G>T	ENST00000370481.4	-	7	1261	c.1041C>A	c.(1039-1041)acC>acA	p.T347T		NM_018284.2	NP_060754.2	Q8WXF7	ATLA1_HUMAN	guanylate binding protein 3	398					axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.T347T(1)		breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		GCTCCTGGAGGGTTTCTGCGG	0.537																																					p.T347T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1041A	1						.						74.0	57.0	63.0					1																	89477538		2189	3949	6138	89250126	SO:0001819	synonymous_variant	2635	exon7			BC063819	CCDS717.2	1p22.2	2008-02-05			ENSG00000117226	ENSG00000117226			4184	protein-coding gene	gene with protein product		600413				7518790	Standard	NM_018284		Approved	FLJ10961	uc001dmt.3	Q9H0R5	OTTHUMG00000010616	ENST00000370481.4:c.1041C>A	1.37:g.89477538G>T		Somatic		Capture	SOLID	Phase_I	89250126	NM_018284	A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Silent	SNP	ENST00000370481.4	37	CCDS717.2																																																																																				0.537	GBP3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313541.3	NM_018284	
LRRC8D	55144	hgsc.bcm.edu	37	1	90399253	90399253	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:90399253C>T	ENST00000337338.5	+	3	1033	c.626C>T	c.(625-627)aCg>aTg	p.T209M	LRRC8D_ENST00000394593.3_Missense_Mutation_p.T209M	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	209					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.T209M(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		TCCCCTTGGACGACAAAAGCG	0.418																																					p.T209M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C626T	1						.						59.0	60.0	60.0					1																	90399253		2203	4300	6503	90171841	SO:0001583	missense	55144	exon3			AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.626C>T	1.37:g.90399253C>T	ENSP00000338887:p.Thr209Met	Somatic		Capture	SOLID	Phase_I	90171841	NM_001134479	D3DT29|Q6UWB2|Q9NVW3	Missense_Mutation	SNP	ENST00000337338.5	37	CCDS726.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.602171	0.66445	.	.	ENSG00000171492	ENST00000337338;ENST00000394593;ENST00000441269	T;T;T	0.57752	1.05;1.05;0.38	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.71358	0.3330	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68096	-0.5499	9	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	209	Q7L1W4	LRC8D_HUMAN	M	209	ENSP00000338887:T209M;ENSP00000378093:T209M;ENSP00000405784:T209M	.	T	+	2	0	LRRC8D	90171841	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	ACG		0.418	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103	
ZNF326	284695	hgsc.bcm.edu	37	1	90487830	90487831	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	AG	AG	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:90487830_90487831delAG	ENST00000340281.4	+	11	1470_1471	c.1327_1328delAG	c.(1327-1329)agafs	p.R443fs	ZNF326_ENST00000370447.3_Frame_Shift_Del_p.R354fs|ZNF326_ENST00000455342.2_Frame_Shift_Del_p.R237fs	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	443					mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)	p.S445fs*10(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		ACAAATAAAAAGAGAGAGTGTC	0.327																																					p.443_443del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1327_1328del	1						.																																			90260419	SO:0001589	frameshift_variant	284695	exon11			BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"""Zinc fingers, C2H2-type"""	14104	protein-coding gene	gene with protein product	"""ZNF-protein interacting with nuclear mRNPs and DBC1"""	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.1327_1328delAG	1.37:g.90487836_90487837delAG	ENSP00000340796:p.Arg443fs	Somatic		Capture	SOLID	Phase_I	90260418	NM_182976	A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Frame_Shift_Del	DEL	ENST00000340281.4	37	CCDS727.1																																																																																				0.327	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029428.2	NM_181781	
BARHL2	343472	hgsc.bcm.edu	37	1	91182588	91182588	+	Missense_Mutation	SNP	A	A	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:91182588A>C	ENST00000370445.4	-	1	206	c.165T>G	c.(163-165)atT>atG	p.I55M		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	55					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.I55M(1)		cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CTACGGTATCAATCTCCGAAC	0.612																																					p.I55M	GBM(199;3561 4100 22440)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T165G	1						.						72.0	80.0	77.0					1																	91182588		2203	4300	6503	90955176	SO:0001583	missense	343472	exon1			AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"""Homeoboxes / ANTP class : NKL subclass"""	954	protein-coding gene	gene with protein product		605212	"""BarH (Drosophila)-like 2"""				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.165T>G	1.37:g.91182588A>C	ENSP00000359474:p.Ile55Met	Somatic		Capture	SOLID	Phase_I	90955176	NM_020063	A0AVP2|Q7Z4N7	Missense_Mutation	SNP	ENST00000370445.4	37	CCDS730.1	.	.	.	.	.	.	.	.	.	.	A	18.92	3.726665	0.69074	.	.	ENSG00000143032	ENST00000370445	D	0.92699	-3.09	5.92	-2.48	0.06423	.	0.000000	0.85682	D	0.000000	T	0.79505	0.4457	N	0.14661	0.345	0.41692	D	0.989354	D	0.61697	0.99	P	0.54664	0.758	T	0.76274	-0.3019	10	0.33141	T	0.24	.	6.1813	0.20472	0.2593:0.0:0.4861:0.2546	.	55	Q9NY43	BARH2_HUMAN	M	55	ENSP00000359474:I55M	ENSP00000359474:I55M	I	-	3	3	BARHL2	90955176	1.000000	0.71417	0.989000	0.46669	0.976000	0.68499	1.038000	0.30254	-0.348000	0.08286	-0.256000	0.11100	ATT		0.612	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027728.2		
BARHL2	343472	hgsc.bcm.edu	37	1	91182715	91182715	+	Missense_Mutation	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:91182715A>G	ENST00000370445.4	-	1	79	c.38T>C	c.(37-39)aTa>aCa	p.I13T		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	13					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.I13T(1)		cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		AATCGTGTCTATTCCAAAACT	0.577																																					p.I13T	GBM(199;3561 4100 22440)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T38C	1						.						104.0	112.0	109.0					1																	91182715		2203	4300	6503	90955303	SO:0001583	missense	343472	exon1			AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"""Homeoboxes / ANTP class : NKL subclass"""	954	protein-coding gene	gene with protein product		605212	"""BarH (Drosophila)-like 2"""				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.38T>C	1.37:g.91182715A>G	ENSP00000359474:p.Ile13Thr	Somatic		Capture	SOLID	Phase_I	90955303	NM_020063	A0AVP2|Q7Z4N7	Missense_Mutation	SNP	ENST00000370445.4	37	CCDS730.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.602773	0.87157	.	.	ENSG00000143032	ENST00000370445	D	0.94138	-3.36	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.93207	0.7836	L	0.36672	1.1	0.58432	D	0.999998	D	0.57899	0.981	D	0.67231	0.95	D	0.94624	0.7816	10	0.87932	D	0	.	14.1179	0.65167	1.0:0.0:0.0:0.0	.	13	Q9NY43	BARH2_HUMAN	T	13	ENSP00000359474:I13T	ENSP00000359474:I13T	I	-	2	0	BARHL2	90955303	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.005000	0.88553	2.219000	0.72066	0.524000	0.50904	ATA		0.577	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027728.2		
EVI5	7813	hgsc.bcm.edu	37	1	93202175	93202175	+	Missense_Mutation	SNP	C	C	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:93202175C>A	ENST00000370331.1	-	2	70	c.61G>T	c.(61-63)Gac>Tac	p.D21Y	EVI5_ENST00000540033.1_Missense_Mutation_p.D21Y|EVI5_ENST00000543509.1_Missense_Mutation_p.D21Y	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	21	Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.D21Y(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		GCAACTTTGTCTGTCGCCACC	0.398																																					p.D21Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G61T	1						.						199.0	181.0	187.0					1																	93202175		2203	4300	6503	92974763	SO:0001583	missense	7813	exon2			AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.61G>T	1.37:g.93202175C>A	ENSP00000359356:p.Asp21Tyr	Somatic		Capture	SOLID	Phase_I	92974763	NM_005665	A6NKX8|B9A6J0|Q9H1Y9	Missense_Mutation	SNP	ENST00000370331.1	37	CCDS30774.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169901	0.78452	.	.	ENSG00000067208	ENST00000370331;ENST00000540033;ENST00000543509	T;T;T	0.06068	3.35;3.35;3.35	5.24	4.32	0.51571	.	0.048324	0.85682	D	0.000000	T	0.07593	0.0191	L	0.36672	1.1	0.58432	D	0.999998	D;P	0.69078	0.997;0.799	P;P	0.56960	0.81;0.554	T	0.10064	-1.0646	10	0.72032	D	0.01	-15.3503	14.0763	0.64891	0.0:0.9258:0.0:0.0742	.	21;21	F5H4R0;O60447	.;EVI5_HUMAN	Y	21	ENSP00000359356:D21Y;ENSP00000440826:D21Y;ENSP00000445019:D21Y	ENSP00000359356:D21Y	D	-	1	0	EVI5	92974763	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.748000	0.68697	2.456000	0.83038	0.305000	0.20034	GAC		0.398	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665	
DPYD	1806	hgsc.bcm.edu	37	1	97770845	97770845	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:97770845C>T	ENST00000370192.3	-	18	2369	c.2269G>A	c.(2269-2271)Gca>Aca	p.A757T	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	757					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.A757T(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	GTTCGCTTTGCAATCCCCACT	0.488																																					p.A757T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2269A	1						.						214.0	175.0	188.0					1																	97770845		2203	4300	6503	97543433	SO:0001583	missense	1806	exon18			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2269G>A	1.37:g.97770845C>T	ENSP00000359211:p.Ala757Thr	Somatic		Capture	SOLID	Phase_I	97543433	NM_000110	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024193	0.54683	.	.	ENSG00000188641	ENST00000370192	T	0.74209	-0.82	5.55	5.55	0.83447	Aldolase-type TIM barrel (1);	0.182235	0.48286	D	0.000199	T	0.53802	0.1819	L	0.27053	0.805	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.48210	-0.9055	10	0.32370	T	0.25	-2.7252	19.8696	0.96845	0.0:1.0:0.0:0.0	.	757	Q12882	DPYD_HUMAN	T	757	ENSP00000359211:A757T	ENSP00000359211:A757T	A	-	1	0	DPYD	97543433	0.930000	0.31532	0.578000	0.28575	0.263000	0.26337	5.720000	0.68470	2.773000	0.95371	0.585000	0.79938	GCA		0.488	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110	
LPPR5	163404	hgsc.bcm.edu	37	1	99422239	99422239	+	Missense_Mutation	SNP	T	T	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:99422239T>G	ENST00000263177.4	-	2	517	c.296A>C	c.(295-297)aAc>aCc	p.N99T	LPPR5_ENST00000370188.3_Missense_Mutation_p.N99T	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		99						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.N99T(1)									TTTTTCCTGGTTTTCAAAATC	0.338																																					p.N99T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A296C	1						.						67.0	70.0	69.0					1																	99422239		2202	4300	6502	99194827	SO:0001583	missense	163404	exon2																														ENST00000263177.4:c.296A>C	1.37:g.99422239T>G	ENSP00000263177:p.Asn99Thr	Somatic		Capture	SOLID	Phase_I	99194827	NM_001037317	A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Missense_Mutation	SNP	ENST00000263177.4	37	CCDS30778.1	.	.	.	.	.	.	.	.	.	.	T	8.453	0.853463	0.17106	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	T;T	0.40476	1.03;1.03	4.74	4.74	0.60224	.	0.351573	0.34531	N	0.003881	T	0.15825	0.0381	L	0.34521	1.04	0.39193	D	0.962994	B;B	0.09022	0.001;0.002	B;B	0.14023	0.01;0.004	T	0.06570	-1.0819	10	0.13470	T	0.59	.	13.7165	0.62700	0.0:0.0:0.0:1.0	.	99;99	Q32ZL2-2;Q32ZL2	.;LPPR5_HUMAN	T	99	ENSP00000359207:N99T;ENSP00000263177:N99T	ENSP00000263177:N99T	N	-	2	0	AL161744.1	99194827	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.341000	0.52151	1.898000	0.54952	0.482000	0.46254	AAC		0.338	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1		
FRRS1	391059	hgsc.bcm.edu	37	1	100185126	100185126	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:100185126C>T	ENST00000414213.1	-	10	1685	c.1084G>A	c.(1084-1086)Gga>Aga	p.G362R	FRRS1_ENST00000287474.5_Missense_Mutation_p.G362R			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	362	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.					integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)	p.G362R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		TGGGATCCTCCTATGTTCTTT	0.388																																					p.G362R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1084A	1						.						130.0	116.0	121.0					1																	100185126		2203	4300	6503	99957714	SO:0001583	missense	391059	exon10			AK131302	CCDS30780.1	1p21.3	2009-11-30	2006-02-22	2006-02-22	ENSG00000156869	ENSG00000156869			27622	protein-coding gene	gene with protein product		611578	"""stromal cell derived factor receptor 2 homolog (mouse)"""	SDFR2			Standard	NM_001013660		Approved	SDR2	uc001dsh.1	Q6ZNA5	OTTHUMG00000010768	ENST00000414213.1:c.1084G>A	1.37:g.100185126C>T	ENSP00000393884:p.Gly362Arg	Somatic		Capture	SOLID	Phase_I	99957714	NM_001013660	A6NLN7	Missense_Mutation	SNP	ENST00000414213.1	37		.	.	.	.	.	.	.	.	.	.	C	13.96	2.393050	0.42410	.	.	ENSG00000156869	ENST00000414213;ENST00000287474	.	.	.	5.96	5.96	0.96718	.	0.115876	0.64402	D	0.000011	T	0.64394	0.2594	M	0.75447	2.3	0.53005	D	0.999965	P	0.46220	0.874	P	0.47470	0.548	T	0.66893	-0.5808	9	0.51188	T	0.08	-18.4194	18.1812	0.89779	0.0:1.0:0.0:0.0	.	362	Q6ZNA5-2	.	R	362	.	ENSP00000287474:G362R	G	-	1	0	FRRS1	99957714	1.000000	0.71417	0.976000	0.42696	0.140000	0.21249	4.939000	0.63526	2.814000	0.96858	0.655000	0.94253	GGA		0.388	FRRS1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001013660	
OR2T35	403244	hgsc.bcm.edu	37	1	248801592	248801592	+	Missense_Mutation	SNP	C	C	T	rs78622116	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr1:248801592C>T	ENST00000317450.3	-	1	967	c.968G>A	c.(967-969)gGc>gAc	p.G323D		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	323						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G323D(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCCCTGCTAGCCCTTCCTGAT	0.542																																					p.G323D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G968A	1						.						21.0	6.0	12.0					1																	248801592		1918	2711	4629	246868215	SO:0001583	missense	403244	exon1			BK004475	CCDS31123.1	1q44	2012-08-09			ENSG00000177151	ENSG00000177151		"""GPCR / Class A : Olfactory receptors"""	31257	protein-coding gene	gene with protein product							Standard	NM_001001827		Approved		uc001ies.1	Q8NGX2	OTTHUMG00000040380	ENST00000317450.3:c.968G>A	1.37:g.248801592C>T	ENSP00000324369:p.Gly323Asp	Somatic		Capture	SOLID	Phase_I	246868215	NM_001001827	Q6IEY7	Missense_Mutation	SNP	ENST00000317450.3	37	CCDS31123.1	1586	0.7261904761904762	244	0.4959349593495935	286	0.7900552486187845	451	0.7884615384615384	605	0.7981530343007915	.	4.951	0.176629	0.09443	.	.	ENSG00000177151	ENST00000317450	T	0.01647	4.71	0.75	0.75	0.18387	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.03259	-1.1055	8	0.56958	D	0.05	.	2.9607	0.05891	0.0:0.3203:0.0:0.6797	.	323	Q8NGX2	O2T35_HUMAN	D	323	ENSP00000324369:G323D	ENSP00000324369:G323D	G	-	2	0	OR2T35	246868215	0.000000	0.05858	0.003000	0.11579	0.007000	0.05969	0.032000	0.13732	-0.215000	0.10063	-1.461000	0.01025	GGC		0.542	OR2T35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097130.1	NM_001001827	
MMP7	4316	hgsc.bcm.edu	37	11	102398388	102398388	+	Silent	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:102398388A>G	ENST00000260227.4	-	3	403	c.351T>C	c.(349-351)acT>acC	p.T117T		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	117					antibacterial peptide secretion (GO:0002779)|collagen catabolic process (GO:0030574)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T117T(1)		large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	Marimastat(DB00786)	GTAAGTCTCGAGTATATGATA	0.413																																					p.T117T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T351C	11						.						121.0	118.0	119.0					11																	102398388		2203	4299	6502	101903598	SO:0001819	synonymous_variant	4316	exon3			Z11887	CCDS8317.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000137673	ENSG00000137673	3.4.24.23		7174	protein-coding gene	gene with protein product		178990	"""matrix metalloproteinase 7 (matrilysin, uterine)"""	MPSL1		8978768	Standard	NM_002423		Approved	PUMP-1	uc001phb.3	P09237	OTTHUMG00000048193	ENST00000260227.4:c.351T>C	11.37:g.102398388A>G		Somatic		Capture	SOLID	Phase_I	101903598	NM_002423	Q9BTK9	Silent	SNP	ENST00000260227.4	37	CCDS8317.1																																																																																				0.413	MMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109633.2		
MMP27	64066	hgsc.bcm.edu	37	11	102564702	102564702	+	Missense_Mutation	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:102564702T>C	ENST00000260229.4	-	8	1219	c.1128A>G	c.(1126-1128)atA>atG	p.I376M		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	376					collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.I376M(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	CGGCTGCATCTATTTTCTTCA	0.398																																					p.I376M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1128G	11						.						150.0	142.0	145.0					11																	102564702		2203	4299	6502	102069912	SO:0001583	missense	64066	exon8			AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"""matrix metalloprotease 27"""		"""matrix metalloproteinase 27"""			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.1128A>G	11.37:g.102564702T>C	ENSP00000260229:p.Ile376Met	Somatic		Capture	SOLID	Phase_I	102069912	NM_022122	Q6UWK6	Missense_Mutation	SNP	ENST00000260229.4	37	CCDS8319.1	.	.	.	.	.	.	.	.	.	.	T	12.60	1.987630	0.35036	.	.	ENSG00000137675	ENST00000260229	T	0.03920	3.76	4.79	-7.4	0.01397	Hemopexin/matrixin (2);	0.338521	0.24590	N	0.037228	T	0.16171	0.0389	M	0.91038	3.17	0.26537	N	0.974143	D	0.67145	0.996	D	0.71184	0.972	T	0.00292	-1.1842	10	0.87932	D	0	.	5.8181	0.18512	0.319:0.0:0.3137:0.3674	.	376	Q9H306	MMP27_HUMAN	M	376	ENSP00000260229:I376M	ENSP00000260229:I376M	I	-	3	3	MMP27	102069912	0.143000	0.22626	0.860000	0.33809	0.406000	0.30931	-0.398000	0.07259	-1.039000	0.03275	-1.417000	0.01113	ATA		0.398	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398128.1	NM_022122	
GRIA4	2893	hgsc.bcm.edu	37	11	105845097	105845097	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:105845097G>A	ENST00000530497.1	+	15	2470	c.2470G>A	c.(2470-2472)Ggc>Agc	p.G824S	GRIA4_ENST00000282499.5_Missense_Mutation_p.G824S|GRIA4_ENST00000393127.2_Missense_Mutation_p.G824S|RNU6-277P_ENST00000516272.1_RNA|GRIA4_ENST00000525187.1_Missense_Mutation_p.G824S|GRIA4_ENST00000533094.1_3'UTR			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	824					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.G824S(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		TCTGGTTGGCGGCTTGGGCTT	0.488																																					p.G824S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2470A	11						.						168.0	152.0	157.0					11																	105845097		2201	4299	6500	105350307	SO:0001583	missense	2893	exon16			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.2470G>A	11.37:g.105845097G>A	ENSP00000435775:p.Gly824Ser	Somatic		Capture	SOLID	Phase_I	105350307	NM_001077243	Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	G	34	5.362323	0.95877	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.71	5.71	0.89125	Ionotropic glutamate receptor (1);	0.000000	0.64402	D	0.000002	D	0.88489	0.6450	H	0.96301	3.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91502	0.5220	10	0.87932	D	0	.	19.8576	0.96767	0.0:0.0:1.0:0.0	.	824;824	P48058;G3V164	GRIA4_HUMAN;.	S	824	ENSP00000282499:G824S;ENSP00000376835:G824S;ENSP00000435775:G824S;ENSP00000432180:G824S	ENSP00000282499:G824S	G	+	1	0	GRIA4	105350307	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.835000	0.99442	2.696000	0.92011	0.655000	0.94253	GGC		0.488	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1		
SIK3	23387	hgsc.bcm.edu	37	11	116728794	116728794	+	Silent	SNP	G	G	A	rs372950236		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:116728794G>A	ENST00000292055.4	-	20	3104	c.3069C>T	c.(3067-3069)caC>caT	p.H1023H	SIK3_ENST00000375288.1_Silent_p.H358H|SIK3_ENST00000375300.1_Silent_p.H1081H|SIK3_ENST00000434315.2_Silent_p.H862H|SIK3_ENST00000542607.1_Silent_p.H963H|SIK3_ENST00000488337.1_5'UTR|AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000446921.2_Silent_p.H1021H	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	1023					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.H1129H(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GAGCATACCCGTGGGGCGGGG	0.552																																					p.H1023H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3069T	11						.	G		0,4402		0,0,2201	84.0	89.0	87.0		3069	-10.0	0.2	11		87	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	SIK3	NM_025164.3		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		1023/1264	116728794	1,12993	2201	4296	6497	116234004	SO:0001819	synonymous_variant	23387	exon20			AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.3069C>T	11.37:g.116728794G>A		Somatic		Capture	SOLID	Phase_I	116234004	NM_025164	A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Silent	SNP	ENST00000292055.4	37	CCDS8379.1	.	.	.	.	.	.	.	.	.	.	G	2.869	-0.234351	0.05983	0.0	1.16E-4	ENSG00000160584	ENST00000445177;ENST00000446921	.	.	.	5.02	-10.0	0.00425	.	.	.	.	.	T	0.49949	0.1587	.	.	.	0.48762	D	0.999703	.	.	.	.	.	.	T	0.61946	-0.6958	4	.	.	.	.	11.3884	0.49800	0.3113:0.1706:0.5182:0.0	.	.	.	.	W	1123;986	.	.	R	-	1	2	SIK3	116234004	0.000000	0.05858	0.151000	0.22473	0.771000	0.43674	-2.733000	0.00803	-2.004000	0.00961	-1.012000	0.02466	CGG		0.552	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164	
HYOU1	10525	hgsc.bcm.edu	37	11	118919207	118919207	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:118919207G>A	ENST00000404233.3	-	19	2358	c.2234C>T	c.(2233-2235)gCa>gTa	p.A745V	HYOU1_ENST00000543287.1_3'UTR|HYOU1_ENST00000525859.1_Missense_Mutation_p.A683V|HYOU1_ENST00000529972.1_Missense_Mutation_p.A683V	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	745					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)	p.A745V(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		AAATATGAATGCTTCCAAGCT	0.577																																					p.A745V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2234T	11						.						111.0	94.0	100.0					11																	118919207		2200	4295	6495	118424417	SO:0001583	missense	10525	exon19			U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.2234C>T	11.37:g.118919207G>A	ENSP00000384144:p.Ala745Val	Somatic		Capture	SOLID	Phase_I	118424417	NM_006389	A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	ENST00000404233.3	37	CCDS8408.1	.	.	.	.	.	.	.	.	.	.	G	33	5.281353	0.95489	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000535579;ENST00000525859;ENST00000544701	T;T;T	0.14391	2.51;2.51;2.51	5.38	5.38	0.77491	.	0.058297	0.64402	D	0.000002	T	0.43100	0.1232	M	0.83312	2.635	0.80722	D	1	D;D;D;D	0.71674	0.977;0.998;0.977;0.977	P;D;P;P	0.69824	0.893;0.966;0.893;0.893	T	0.38628	-0.9652	10	0.72032	D	0.01	-17.0582	19.3311	0.94288	0.0:0.0:1.0:0.0	.	736;727;745;745	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	V	745;736;683;594;683;726	ENSP00000384144:A745V;ENSP00000437313:A683V;ENSP00000433397:A683V	ENSP00000278752:A736V	A	-	2	0	HYOU1	118424417	1.000000	0.71417	0.966000	0.40874	0.929000	0.56500	8.873000	0.92357	2.813000	0.96785	0.655000	0.94253	GCA		0.577	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389353.1	NM_006389	
MCAM	4162	hgsc.bcm.edu	37	11	119182876	119182876	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:119182876C>T	ENST00000264036.4	-	9	1043	c.1029G>A	c.(1027-1029)gtG>gtA	p.V343V	MCAM_ENST00000530144.2_5'Flank|MCAM_ENST00000392814.1_Silent_p.V292V	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	343	Ig-like C2-type 2.				anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V343V(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		GGACGTCAGACACATCTGGGG	0.637																																					p.V343V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1029A	11						.						54.0	56.0	55.0					11																	119182876		2199	4295	6494	118688086	SO:0001819	synonymous_variant	4162	exon9			X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6934	protein-coding gene	gene with protein product	"""Gicerin"""	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.1029G>A	11.37:g.119182876C>T		Somatic		Capture	SOLID	Phase_I	118688086	NM_006500	O95812|Q59E86|Q6PHR3|Q6ZTR2	Silent	SNP	ENST00000264036.4	37	CCDS31690.1																																																																																				0.637	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388332.2		
UBASH3B	84959	hgsc.bcm.edu	37	11	122678843	122678843	+	Missense_Mutation	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:122678843T>C	ENST00000284273.5	+	13	2146	c.1771T>C	c.(1771-1773)Tca>Cca	p.S591P		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	591	Protein tyrosine phosphatase. {ECO:0000250}.				negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.S591P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		TCAGGGCCTGTCACCTCAGAA	0.493																																					p.S591P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1771C	11						.						292.0	272.0	279.0					11																	122678843		2202	4299	6501	122184053	SO:0001583	missense	84959	exon13			AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"""SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"""	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.1771T>C	11.37:g.122678843T>C	ENSP00000284273:p.Ser591Pro	Somatic		Capture	SOLID	Phase_I	122184053	NM_032873	Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Missense_Mutation	SNP	ENST00000284273.5	37	CCDS31694.1	.	.	.	.	.	.	.	.	.	.	T	12.06	1.825092	0.32237	.	.	ENSG00000154127	ENST00000284273	T	0.30182	1.54	5.85	5.85	0.93711	.	0.182580	0.46145	D	0.000306	T	0.17831	0.0428	N	0.14661	0.345	0.38823	D	0.95567	B	0.02656	0.0	B	0.01281	0.0	T	0.15378	-1.0439	10	0.20046	T	0.44	-17.3243	11.0535	0.47905	0.1386:0.0:0.0:0.8614	.	591	Q8TF42	UBS3B_HUMAN	P	591	ENSP00000284273:S591P	ENSP00000284273:S591P	S	+	1	0	UBASH3B	122184053	0.692000	0.27719	1.000000	0.80357	0.996000	0.88848	3.043000	0.49823	2.234000	0.73211	0.533000	0.62120	TCA		0.493	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873	
C11orf63	79864	hgsc.bcm.edu	37	11	122756709	122756709	+	Missense_Mutation	SNP	C	C	T	rs374078669		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:122756709C>T	ENST00000531316.1	+	1	244	c.152C>T	c.(151-153)aCg>aTg	p.T51M	C11orf63_ENST00000227349.2_Missense_Mutation_p.T51M|C11orf63_ENST00000307257.6_Missense_Mutation_p.T51M			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	51					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)			p.T51M(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GAAAGCCTCACGCAAGAGATT	0.478													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18176	0.0		0.0	False		,,,				2504	0.0				p.T51M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C152T	11						.	C	MET/THR,MET/THR	0,4404		0,0,2202	94.0	97.0	96.0		152,152	1.4	0.2	11		96	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	C11orf63	NM_024806.2,NM_199124.1	81,81	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	51/779,51/308	122756709	1,13001	2202	4299	6501	122261919	SO:0001583	missense	79864	exon2			BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.152C>T	11.37:g.122756709C>T	ENSP00000431669:p.Thr51Met	Somatic		Capture	SOLID	Phase_I	122261919	NM_024806	A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	ENST00000531316.1	37	CCDS8438.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.013869	0.35511	0.0	1.16E-4	ENSG00000109944	ENST00000307257;ENST00000227349;ENST00000531316	T;T	0.46063	0.88;0.88	5.76	1.39	0.22231	.	1.108110	0.06779	N	0.784886	T	0.42720	0.1215	M	0.63428	1.95	0.09310	N	1	D;D	0.54397	0.966;0.966	B;P	0.45913	0.42;0.497	T	0.35051	-0.9804	10	0.51188	T	0.08	0.3904	4.6071	0.12383	0.1552:0.5366:0.0:0.3082	.	51;51	Q6NUN7;Q6NUN7-2	CK063_HUMAN;.	M	51	ENSP00000227349:T51M;ENSP00000431669:T51M	ENSP00000227349:T51M	T	+	2	0	C11orf63	122261919	0.000000	0.05858	0.166000	0.22797	0.470000	0.32858	-0.192000	0.09587	0.787000	0.33731	0.655000	0.94253	ACG		0.478	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806	
ROBO4	54538	hgsc.bcm.edu	37	11	124754959	124754959	+	Silent	SNP	G	G	A	rs368773895		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:124754959G>A	ENST00000306534.3	-	17	3464	c.2979C>T	c.(2977-2979)caC>caT	p.H993H	RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Silent_p.H848H	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	993					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.H993H(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GCATACGACAGTGGAGCTGAC	0.592																																					p.H993H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2979T	11						.						77.0	75.0	75.0					11																	124754959		2201	4299	6500	124260169	SO:0001819	synonymous_variant	54538	exon17			AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.2979C>T	11.37:g.124754959G>A		Somatic		Capture	SOLID	Phase_I	124260169	NM_019055	A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Silent	SNP	ENST00000306534.3	37	CCDS8455.1																																																																																				0.592	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055	
PATE2	399967	hgsc.bcm.edu	37	11	125647866	125647866	+	Missense_Mutation	SNP	T	T	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:125647866T>A	ENST00000358524.3	-	3	153	c.108A>T	c.(106-108)aaA>aaT	p.K36N	PATE2_ENST00000436890.2_Intron	NM_212555.2	NP_997720.1	Q6UY27	PATE2_HUMAN	prostate and testis expressed 2	36						extracellular space (GO:0005615)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)	6						CAAGATGATATTTTTTACATT	0.418																																					p.K36N												.	.	0			c.A108T	11						.						129.0	118.0	122.0					11																	125647866		2201	4299	6500	125153076	SO:0001583	missense	399967	exon3			AY358105	CCDS8465.1	11q24.2	2008-12-17	2008-12-17	2008-12-17		ENSG00000196844		"""PATE family"""	32249	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 38"""	C11orf38			Standard	NM_212555		Approved	UNQ3112, LVLF3112, PATE-M	uc001qcu.3	Q6UY27		ENST00000358524.3:c.108A>T	11.37:g.125647866T>A	ENSP00000351325:p.Lys36Asn	Somatic		Capture	SOLID	Phase_I	125153076	NM_212555	B2RNZ2|B7ZMG4	Missense_Mutation	SNP	ENST00000358524.3	37	CCDS8465.1	.	.	.	.	.	.	.	.	.	.	T	14.64	2.595502	0.46318	.	.	ENSG00000196844	ENST00000358524	D	0.92249	-3.0	5.05	1.17	0.20885	.	1.549080	0.03319	N	0.191640	D	0.89853	0.6835	M	0.63428	1.95	0.22050	N	0.999392	P	0.36535	0.557	B	0.36186	0.219	T	0.78023	-0.2366	10	0.87932	D	0	-7.0296	3.4977	0.07661	0.3509:0.0952:0.0:0.5539	.	36	Q6UY27	PATE2_HUMAN	N	36	ENSP00000351325:K36N	ENSP00000351325:K36N	K	-	3	2	PATE2	125153076	0.005000	0.15991	0.114000	0.21550	0.482000	0.33219	-0.068000	0.11561	0.464000	0.27142	0.482000	0.46254	AAA		0.418	PATE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386729.1	NM_212555	
CDON	50937	hgsc.bcm.edu	37	11	125831788	125831788	+	Silent	SNP	G	G	A	rs143827727		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:125831788G>A	ENST00000392693.3	-	19	3589	c.3462C>T	c.(3460-3462)caC>caT	p.H1154H	CDON_ENST00000263577.7_Silent_p.H1154H|CDON_ENST00000531738.1_Silent_p.H531H	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	1154					anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.H1154H(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		GCACCTTCACGTGACTGAGGG	0.552																																					p.H1154H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3462T	11						.	G		1,4401	2.1+/-5.4	0,1,2200	94.0	80.0	84.0		3462	2.2	0.0	11	dbSNP_134	84	0,8598		0,0,4299	no	coding-synonymous	CDON	NM_016952.4		0,1,6499	AA,AG,GG		0.0,0.0227,0.0077		1154/1265	125831788	1,12999	2201	4299	6500	125336998	SO:0001819	synonymous_variant	50937	exon19			AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.3462C>T	11.37:g.125831788G>A		Somatic		Capture	SOLID	Phase_I	125336998	NM_016952	O14631	Silent	SNP	ENST00000392693.3	37	CCDS58192.1																																																																																				0.552	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952	
ADAMTS15	170689	hgsc.bcm.edu	37	11	130332646	130332646	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:130332646G>A	ENST00000299164.2	+	4	1513	c.1513G>A	c.(1513-1515)Gtg>Atg	p.V505M		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	505	Disintegrin.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.V505M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		AGGGGCCTGCGTGGAGAGACA	0.667																																					p.V505M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1513A	11						.						88.0	92.0	91.0					11																	130332646		2201	4297	6498	129837856	SO:0001583	missense	170689	exon4			AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.1513G>A	11.37:g.130332646G>A	ENSP00000299164:p.Val505Met	Somatic		Capture	SOLID	Phase_I	129837856	NM_139055	Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.844426	0.51164	.	.	ENSG00000166106	ENST00000299164	T	0.63096	-0.02	5.48	5.48	0.80851	.	.	.	.	.	T	0.61060	0.2317	M	0.75150	2.29	0.50171	D	0.999859	D	0.56746	0.977	B	0.35312	0.2	T	0.69540	-0.5118	9	0.46703	T	0.11	.	19.3471	0.94367	0.0:0.0:1.0:0.0	.	505	Q8TE58	ATS15_HUMAN	M	505	ENSP00000299164:V505M	ENSP00000299164:V505M	V	+	1	0	ADAMTS15	129837856	0.997000	0.39634	0.985000	0.45067	0.946000	0.59487	1.881000	0.39638	2.566000	0.86566	0.655000	0.94253	GTG		0.667	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055	
SNX19	399979	hgsc.bcm.edu	37	11	130750591	130750591	+	Missense_Mutation	SNP	C	C	A	rs368762149		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:130750591C>A	ENST00000265909.4	-	9	3253	c.2684G>T	c.(2683-2685)cGg>cTg	p.R895L	SNX19_ENST00000539184.1_Missense_Mutation_p.R338L|SNX19_ENST00000426933.2_Missense_Mutation_p.R63L|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000534726.1_Missense_Mutation_p.R135L|SNX19_ENST00000528555.1_Missense_Mutation_p.R275L|SNX19_ENST00000545537.1_Missense_Mutation_p.R135L|SNX19_ENST00000530356.1_Missense_Mutation_p.R275L	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	895					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.R895L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CCTTACGGGCCGTGGAAACTT	0.517																																					p.R895L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2684T	11						.						103.0	108.0	106.0					11																	130750591		2201	4297	6498	130255801	SO:0001583	missense	399979	exon9			D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.2684G>T	11.37:g.130750591C>A	ENSP00000265909:p.Arg895Leu	Somatic		Capture	SOLID	Phase_I	130255801	NM_014758	E9PKB9|Q8IV55	Missense_Mutation	SNP	ENST00000265909.4	37	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854175	0.71719	.	.	ENSG00000120451	ENST00000265909;ENST00000534726;ENST00000545537;ENST00000426933;ENST00000528555;ENST00000530356;ENST00000539184	T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51	5.96	4.96	0.65561	Sorting nexin, C-terminal (1);	0.354052	0.25689	N	0.028947	T	0.28863	0.0716	L	0.59436	1.845	0.34384	D	0.693471	P;P	0.45827	0.738;0.867	B;B	0.42214	0.209;0.38	T	0.40572	-0.9556	10	0.40728	T	0.16	-17.68	7.2439	0.26112	0.0:0.8161:0.0:0.1839	.	338;895	F5H5D1;Q92543	.;SNX19_HUMAN	L	895;135;135;63;275;275;338	ENSP00000265909:R895L;ENSP00000433699:R135L;ENSP00000437982:R135L;ENSP00000413345:R63L;ENSP00000435122:R275L;ENSP00000432307:R275L;ENSP00000443480:R338L	ENSP00000265909:R895L	R	-	2	0	SNX19	130255801	0.155000	0.22806	0.656000	0.29637	0.955000	0.61496	1.278000	0.33179	2.824000	0.97209	0.655000	0.94253	CGG		0.517	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758	
TALDO1	6888	hgsc.bcm.edu	37	11	760170	760170	+	Silent	SNP	C	C	T	rs553335941		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:760170C>T	ENST00000319006.3	+	4	531	c.378C>T	c.(376-378)atC>atT	p.I126I	TALDO1_ENST00000528097.1_Silent_p.I126I			P37837	TALDO_HUMAN	transaldolase 1	126					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	monosaccharide binding (GO:0048029)|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity (GO:0004801)	p.I126I(1)		breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		GGCGGCTCATCGAGCTCTACA	0.532													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16456	0.0		0.0	False		,,,				2504	0.0				p.I126I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C378T	11						.						111.0	107.0	109.0					11																	760170		2203	4300	6503	750170	SO:0001819	synonymous_variant	6888	exon4				CCDS7712.1	11p15.5-p15.4	2009-12-02			ENSG00000177156	ENSG00000177156	2.2.1.2		11559	protein-coding gene	gene with protein product		602063				9339383	Standard	NM_006755		Approved		uc001lqz.3	P37837	OTTHUMG00000133318	ENST00000319006.3:c.378C>T	11.37:g.760170C>T		Somatic		Capture	SOLID	Phase_I	750170	NM_006755	B2R8M2|O00751|Q8WV32|Q8WZ45	Silent	SNP	ENST00000319006.3	37	CCDS7712.1																																																																																				0.532	TALDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257116.1	NM_006755	
KRTAP5-5	439915	hgsc.bcm.edu	37	11	1651120	1651120	+	Missense_Mutation	SNP	G	G	T	rs66665994		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:1651120G>T	ENST00000399676.2	+	1	88	c.50G>T	c.(49-51)cGt>cTt	p.R17L		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	17				R -> L (in Ref. 1; BAD20201 and 2; CAF31639). {ECO:0000305}.		keratin filament (GO:0045095)		p.R17L(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		tgtggaggccgtggctccggc	0.697																																					p.R17L												KRTAP5-5,lung,NS,Substitution - Missense,+1	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.G50T	11						.						49.0	62.0	58.0					11																	1651120		2185	4288	6473	1607696	SO:0001583	missense	439915	exon1			AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.50G>T	11.37:g.1651120G>T	ENSP00000382584:p.Arg17Leu	Somatic		Capture	SOLID	Phase_I	1607696	NM_001001480	A8MWN2	Missense_Mutation	SNP	ENST00000399676.2	37	CCDS41592.1	1029	0.47115384615384615	280	0.5691056910569106	162	0.44751381215469616	221	0.38636363636363635	366	0.48284960422163586	G	7.595	0.671480	0.14776	.	.	ENSG00000185940	ENST00000399676;ENST00000422553	T	0.01005	5.45	2.63	2.63	0.31362	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.49389	P	2.1099999999996122E-4	B	0.24963	0.115	B	0.14023	0.01	T	0.01504	-1.1338	8	0.44086	T	0.13	.	9.323	0.37975	0.0:0.0:1.0:0.0	.	17	Q701N2	KRA55_HUMAN	L	17;15	ENSP00000382584:R17L	ENSP00000382584:R17L	R	+	2	0	KRTAP5-5	1607696	1.000000	0.71417	0.817000	0.32601	0.004000	0.04260	3.925000	0.56484	1.420000	0.47138	0.442000	0.29010	CGT		0.697	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1		
OR52A1	23538	hgsc.bcm.edu	37	11	5173258	5173258	+	Silent	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:5173258T>C	ENST00000380367.1	-	2	759	c.342A>G	c.(340-342)tcA>tcG	p.S114S	OR52A1_ENST00000328942.1_Silent_p.S114S			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	114					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)	p.S114S(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAGGATGCCTGACTCTATAC	0.448																																					p.S114S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A342G	11						.						90.0	69.0	76.0					11																	5173258		2201	4297	6498	5129834	SO:0001819	synonymous_variant	23538	exon1			AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"""GPCR / Class A : Olfactory receptors"""	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.342A>G	11.37:g.5173258T>C		Somatic		Capture	SOLID	Phase_I	5129834	NM_012375	Q6IF31	Silent	SNP	ENST00000380367.1	37	CCDS31374.1																																																																																				0.448	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142810.2	NM_012375	
OR51V1	283111	hgsc.bcm.edu	37	11	5221606	5221606	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:5221606G>A	ENST00000321255.1	-	1	324	c.325C>T	c.(325-327)Cag>Tag	p.Q109*		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	109					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q109*(1)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAATAGGACTGGGCAATGCAG	0.522																																					p.Q109X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C325T	11						.						62.0	59.0	60.0					11																	5221606		2201	4298	6499	5178182	SO:0001587	stop_gained	283111	exon1			BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.325C>T	11.37:g.5221606G>A	ENSP00000321729:p.Gln109*	Somatic		Capture	SOLID	Phase_I	5178182	NM_001004760		Nonsense_Mutation	SNP	ENST00000321255.1	37	CCDS31375.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029647	0.93518	.	.	ENSG00000176742	ENST00000321255	.	.	.	5.48	4.58	0.56647	.	0.000000	0.43260	D	0.000582	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.0933	0.59178	0.0774:0.0:0.9226:0.0	.	.	.	.	X	109	.	ENSP00000321729:Q109X	Q	-	1	0	OR51V1	5178182	1.000000	0.71417	0.673000	0.29887	0.885000	0.51271	3.797000	0.55514	1.556000	0.49512	0.650000	0.86243	CAG		0.522	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760	
UBQLN3	50613	hgsc.bcm.edu	37	11	5529665	5529665	+	Missense_Mutation	SNP	G	G	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:5529665G>T	ENST00000311659.4	-	2	1271	c.1124C>A	c.(1123-1125)cCa>cAa	p.P375Q	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_5'Flank|HBE1_ENST00000380237.1_5'Flank	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	375								p.P375Q(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTTTACTGATGGTGGTGGTTC	0.557																																					p.P375Q	Ovarian(72;684 1260 12332 41642 52180)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1124A	11						.						157.0	162.0	160.0					11																	5529665		2201	4297	6498	5486241	SO:0001583	missense	50613	exon2			AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.1124C>A	11.37:g.5529665G>T	ENSP00000347997:p.Pro375Gln	Somatic		Capture	SOLID	Phase_I	5486241	NM_017481	Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	G	2.173	-0.389320	0.04932	.	.	ENSG00000175520	ENST00000311659	T	0.35236	1.32	5.09	2.19	0.27852	.	1.486060	0.04379	N	0.360501	T	0.34454	0.0898	M	0.72479	2.2	0.09310	N	1	P	0.40476	0.718	B	0.33042	0.157	T	0.29088	-1.0023	10	0.29301	T	0.29	.	6.0893	0.19985	0.3147:0.0:0.6853:0.0	.	375	Q9H347	UBQL3_HUMAN	Q	375	ENSP00000347997:P375Q	ENSP00000347997:P375Q	P	-	2	0	UBQLN3	5486241	0.006000	0.16342	0.002000	0.10522	0.125000	0.20455	0.864000	0.27926	0.820000	0.34516	0.655000	0.94253	CCA		0.557	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481	
OR52N1	79473	hgsc.bcm.edu	37	11	5809368	5809368	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:5809368C>T	ENST00000317078.1	-	1	678	c.679G>A	c.(679-681)Gtt>Att	p.V227I	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V227I(2)|p.V227F(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AGACTCACAACTGCTTGAAGA	0.478																																					p.V227I												.	.	3	Substitution - Missense(3)	lung(1)|large_intestine(1)|autonomic_ganglia(1)	c.G679A	11						.						135.0	123.0	127.0					11																	5809368		2201	4296	6497	5765944	SO:0001583	missense	79473	exon1			AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"""GPCR / Class A : Olfactory receptors"""	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.679G>A	11.37:g.5809368C>T	ENSP00000322823:p.Val227Ile	Somatic		Capture	SOLID	Phase_I	5765944	NM_001001913	Q6IFF6	Missense_Mutation	SNP	ENST00000317078.1	37	CCDS31398.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.979784	0.34942	.	.	ENSG00000181001	ENST00000317078	T	0.00224	8.51	4.71	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38326	N	0.001740	T	0.00496	0.0016	M	0.70275	2.135	0.09310	N	0.999997	P	0.47545	0.897	P	0.59546	0.859	T	0.54084	-0.8346	10	0.66056	D	0.02	.	16.7505	0.85484	0.0:1.0:0.0:0.0	.	227	Q8NH53	O52N1_HUMAN	I	227	ENSP00000322823:V227I	ENSP00000322823:V227I	V	-	1	0	OR52N1	5765944	0.033000	0.19621	0.817000	0.32601	0.069000	0.16628	1.117000	0.31234	2.588000	0.87417	0.609000	0.83330	GTT		0.478	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401142.1	NM_001001913	
NAV2	89797	hgsc.bcm.edu	37	11	20075699	20075699	+	Missense_Mutation	SNP	C	C	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:20075699C>A	ENST00000396087.3	+	19	4723	c.4624C>A	c.(4624-4626)Ctt>Att	p.L1542I	NAV2_ENST00000349880.4_Missense_Mutation_p.L1519I|NAV2_ENST00000540292.1_Missense_Mutation_p.L1473I|NAV2_ENST00000396085.1_Missense_Mutation_p.L1519I|NAV2_ENST00000311043.8_Missense_Mutation_p.L583I|NAV2_ENST00000360655.4_Missense_Mutation_p.L1455I|NAV2_ENST00000527559.2_Missense_Mutation_p.L1471I|NAV2_ENST00000533917.1_Missense_Mutation_p.L583I	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1542	Ser-rich.				glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.L1542I(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TGCAGGAGGCCTTCAGGACAC	0.532																																					p.L1455I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4363A	11						.						82.0	68.0	72.0					11																	20075699		2203	4300	6503	20032275	SO:0001583	missense	89797	exon18			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.4624C>A	11.37:g.20075699C>A	ENSP00000379396:p.Leu1542Ile	Somatic		Capture	SOLID	Phase_I	20032275	NM_001111018	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.278351	0.80692	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	T;T;T;T;T;T;T;T;T	0.53423	0.7;0.79;0.8;0.72;0.63;0.62;2.37;1.02;2.37	5.91	1.98	0.26296	.	0.000000	0.50627	D	0.000105	T	0.59555	0.2202	L	0.55481	1.735	0.53688	D	0.999976	D;D;D;D;D;D	0.89917	1.0;0.999;0.998;0.999;1.0;0.999	D;D;D;D;D;D	0.91635	0.997;0.996;0.99;0.993;0.999;0.997	T	0.55496	-0.8132	9	.	.	.	.	11.2772	0.49174	0.0:0.6946:0.0:0.3054	.	1519;1542;583;568;1519;1455	A7E2D6;Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	.;NAV2_HUMAN;.;.;.;.	I	1455;1519;1519;1542;1471;1473;583;568;583;568	ENSP00000353871:L1455I;ENSP00000379394:L1519I;ENSP00000309577:L1519I;ENSP00000379396:L1542I;ENSP00000435395:L1471I;ENSP00000443489:L1473I;ENSP00000437316:L583I;ENSP00000437136:L568I;ENSP00000312169:L583I	.	L	+	1	0	NAV2	20032275	0.665000	0.27466	0.995000	0.50966	0.994000	0.84299	0.961000	0.29267	0.413000	0.25759	0.655000	0.94253	CTT		0.532	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117	
SLC6A5	9152	hgsc.bcm.edu	37	11	20625912	20625912	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:20625912C>T	ENST00000525748.1	+	3	894	c.621C>T	c.(619-621)taC>taT	p.Y207Y		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	207					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.Y207Y(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TGGTGGGGTACGCAGTGGGGC	0.622																																					p.Y207Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C621T	11						.						137.0	126.0	130.0					11																	20625912		2203	4300	6503	20582488	SO:0001819	synonymous_variant	9152	exon3			AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.621C>T	11.37:g.20625912C>T		Somatic		Capture	SOLID	Phase_I	20582488	NM_004211	O95288|Q4VAM7|Q9BX77	Silent	SNP	ENST00000525748.1	37	CCDS7854.1																																																																																				0.622	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211	
SLC6A5	9152	hgsc.bcm.edu	37	11	20652329	20652329	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:20652329G>A	ENST00000525748.1	+	10	1865	c.1592G>A	c.(1591-1593)cGc>cAc	p.R531H	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	531					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.R531H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GCCAATGAACGCAAAGTCAAC	0.507																																					p.R531H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1592A	11						.						146.0	118.0	128.0					11																	20652329		2203	4300	6503	20608905	SO:0001583	missense	9152	exon10			AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1592G>A	11.37:g.20652329G>A	ENSP00000434364:p.Arg531His	Somatic		Capture	SOLID	Phase_I	20608905	NM_004211	O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.328638	0.41197	.	.	ENSG00000165970	ENST00000525748	T	0.74421	-0.84	5.57	5.57	0.84162	.	0.056864	0.64402	D	0.000001	T	0.68696	0.3029	N	0.17901	0.54	0.39478	D	0.967848	P	0.51351	0.944	P	0.50860	0.652	T	0.72824	-0.4176	10	0.54805	T	0.06	.	12.621	0.56603	0.0:0.0:0.7226:0.2773	.	531	Q9Y345	SC6A5_HUMAN	H	531	ENSP00000434364:R531H	ENSP00000434364:R531H	R	+	2	0	SLC6A5	20608905	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.674000	0.61612	2.618000	0.88619	0.655000	0.94253	CGC		0.507	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211	
KIF18A	81930	hgsc.bcm.edu	37	11	28045367	28045367	+	Silent	SNP	G	G	A	rs35440657	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:28045367G>A	ENST00000263181.6	-	16	2825	c.2535C>T	c.(2533-2535)gaC>gaT	p.D845D		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	845					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)	p.D845D(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						CAGAATTTACGTCTGCAGTTA	0.318													G|||	13	0.00259585	0.0	0.0029	5008	,	,		17656	0.0		0.0089	False		,,,				2504	0.002				p.D845D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2535T	11						.	G		3,4399	6.2+/-15.9	0,3,2198	127.0	115.0	119.0		2535	-5.2	0.0	11	dbSNP_126	119	66,8532	40.3+/-97.0	0,66,4233	no	coding-synonymous	KIF18A	NM_031217.3		0,69,6431	AA,AG,GG		0.7676,0.0682,0.5308		845/899	28045367	69,12931	2201	4299	6500	28001943	SO:0001819	synonymous_variant	81930	exon16			AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.2535C>T	11.37:g.28045367G>A		Somatic		Capture	SOLID	Phase_I	28001943	NM_031217	Q4VPE3|Q86VS5|Q9H0F3	Silent	SNP	ENST00000263181.6	37	CCDS7867.1																																																																																				0.318	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217	
TRIM44	54765	hgsc.bcm.edu	37	11	35685306	35685306	+	Missense_Mutation	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:35685306A>G	ENST00000299413.5	+	1	954	c.647A>G	c.(646-648)gAc>gGc	p.D216G	RP1-276E15.1_ENST00000525573.2_lincRNA	NM_017583.4	NP_060053.2	Q96DX7	TRI44_HUMAN	tripartite motif containing 44	216						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.D216G(1)		endometrium(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)				TCCACCCTAGACGAAGCCTTT	0.522																																					p.D216G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A647G	11						.						106.0	106.0	106.0					11																	35685306		2202	4298	6500	35641882	SO:0001583	missense	54765	exon1			BC024031	CCDS31461.1	11p13	2011-04-20	2011-01-25		ENSG00000166326	ENSG00000166326		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19016	protein-coding gene	gene with protein product		612298	"""tripartite motif-containing 44"""				Standard	NM_017583		Approved	DIPB, MC7	uc001mwi.2	Q96DX7	OTTHUMG00000166312	ENST00000299413.5:c.647A>G	11.37:g.35685306A>G	ENSP00000299413:p.Asp216Gly	Somatic		Capture	SOLID	Phase_I	35641882	NM_017583	D3DR14|Q96QY2|Q9UGK0	Missense_Mutation	SNP	ENST00000299413.5	37	CCDS31461.1	.	.	.	.	.	.	.	.	.	.	A	11.10	1.540068	0.27563	.	.	ENSG00000166326	ENST00000299413	T	0.57595	0.39	4.99	4.99	0.66335	.	0.000000	0.39985	N	0.001213	T	0.42832	0.1220	N	0.24115	0.695	0.34642	D	0.720779	P	0.51791	0.948	P	0.46850	0.529	T	0.52697	-0.8541	10	0.23302	T	0.38	-31.721	12.9178	0.58214	1.0:0.0:0.0:0.0	.	216	Q96DX7	TRI44_HUMAN	G	216	ENSP00000299413:D216G	ENSP00000299413:D216G	D	+	2	0	TRIM44	35641882	0.994000	0.37717	0.722000	0.30670	0.015000	0.08874	4.611000	0.61162	1.985000	0.57927	0.533000	0.62120	GAC		0.522	TRIM44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389081.1	NM_017583	
TRIM44	54765	hgsc.bcm.edu	37	11	35747586	35747586	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:35747586G>A	ENST00000299413.5	+	3	1169	c.862G>A	c.(862-864)Gcc>Acc	p.A288T	TRIM44_ENST00000532066.1_3'UTR	NM_017583.4	NP_060053.2	Q96DX7	TRI44_HUMAN	tripartite motif containing 44	288						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.A288T(1)		endometrium(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)				AGAGGCAATGGCCACAGCTCA	0.448																																					p.A288T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G862A	11						.						89.0	75.0	79.0					11																	35747586		2202	4298	6500	35704162	SO:0001583	missense	54765	exon3			BC024031	CCDS31461.1	11p13	2011-04-20	2011-01-25		ENSG00000166326	ENSG00000166326		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19016	protein-coding gene	gene with protein product		612298	"""tripartite motif-containing 44"""				Standard	NM_017583		Approved	DIPB, MC7	uc001mwi.2	Q96DX7	OTTHUMG00000166312	ENST00000299413.5:c.862G>A	11.37:g.35747586G>A	ENSP00000299413:p.Ala288Thr	Somatic		Capture	SOLID	Phase_I	35704162	NM_017583	D3DR14|Q96QY2|Q9UGK0	Missense_Mutation	SNP	ENST00000299413.5	37	CCDS31461.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.607003	0.87157	.	.	ENSG00000166326	ENST00000299413	T	0.32515	1.45	5.24	5.24	0.73138	.	0.000000	0.37669	N	0.001997	T	0.42653	0.1212	N	0.24115	0.695	0.40700	D	0.982473	D	0.89917	1.0	D	0.79108	0.992	T	0.44498	-0.9324	10	0.66056	D	0.02	-12.2914	16.3141	0.82909	0.0:0.0:1.0:0.0	.	288	Q96DX7	TRI44_HUMAN	T	288	ENSP00000299413:A288T	ENSP00000299413:A288T	A	+	1	0	TRIM44	35704162	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.813000	0.69201	2.453000	0.82957	0.655000	0.94253	GCC		0.448	TRIM44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389081.1	NM_017583	
COMMD9	29099	hgsc.bcm.edu	37	11	36296277	36296277	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:36296277C>T	ENST00000263401.5	-	6	518	c.502G>A	c.(502-504)Gct>Act	p.A168T	LINC00610_ENST00000355500.1_lincRNA|COMMD9_ENST00000533308.1_5'Flank|COMMD9_ENST00000532705.1_Missense_Mutation_p.S156N|COMMD9_ENST00000452374.2_Missense_Mutation_p.A126T	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9	168	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.							p.A168T(1)		kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				ACGGTGACAGCTGAGATGGAG	0.532																																					p.A126T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G376A	11						.						156.0	128.0	138.0					11																	36296277		2202	4298	6500	36252853	SO:0001583	missense	29099	exon5			AY542164	CCDS7900.1, CCDS44571.1	11p13	2008-02-05			ENSG00000110442	ENSG00000110442			25014	protein-coding gene	gene with protein product		612299				15799966	Standard	NM_014186		Approved	HSPC166, FLJ31106	uc001mwn.4	Q9P000	OTTHUMG00000166333	ENST00000263401.5:c.502G>A	11.37:g.36296277C>T	ENSP00000263401:p.Ala168Thr	Somatic		Capture	SOLID	Phase_I	36252853	NM_001101653	E9PAN2|Q96FI2|Q9H0R0	Missense_Mutation	SNP	ENST00000263401.5	37	CCDS7900.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.10|12.10	1.836290|1.836290	0.32421|0.32421	.|.	.|.	ENSG00000110442|ENSG00000110442	ENST00000263401;ENST00000537683;ENST00000452374|ENST00000532705	T;T|.	0.08282|.	3.11;3.11|.	5.66|5.66	4.75|4.75	0.60458|0.60458	COMM domain (1);|.	0.175570|.	0.56097|.	D|.	0.000038|.	T|T	0.26085|0.26085	0.0636|0.0636	N|N	0.16066|0.16066	0.365|0.365	0.23677|0.23677	N|N	0.997136|0.997136	B;B|.	0.23058|.	0.021;0.079|.	B;B|.	0.26310|.	0.007;0.068|.	T|T	0.18304|0.18304	-1.0341|-1.0341	10|6	0.09590|0.72032	T|D	0.72|0.01	-22.1182|-22.1182	7.8964|7.8964	0.29708|0.29708	0.0:0.76:0.0:0.24|0.0:0.76:0.0:0.24	.|.	126;168|.	Q9P000-2;Q9P000|.	.;COMD9_HUMAN|.	T|N	168;168;126|156	ENSP00000263401:A168T;ENSP00000392510:A126T|.	ENSP00000263401:A168T|ENSP00000435599:S156N	A|S	-|-	1|2	0|0	COMMD9|COMMD9	36252853|36252853	0.409000|0.409000	0.25368|0.25368	0.581000|0.581000	0.28614|0.28614	0.919000|0.919000	0.55068|0.55068	0.817000|0.817000	0.27281|0.27281	1.385000|1.385000	0.46445|0.46445	0.655000|0.655000	0.94253|0.94253	GCT|AGC		0.532	COMMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389196.1	NM_014186	
TTC17	55761	hgsc.bcm.edu	37	11	43425615	43425615	+	Missense_Mutation	SNP	A	A	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:43425615A>T	ENST00000039989.4	+	11	1414	c.1400A>T	c.(1399-1401)gAt>gTt	p.D467V	TTC17_ENST00000299240.6_Missense_Mutation_p.D467V|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	467					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.D467V(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						AATCAGAGTGATATCAATGAT	0.393																																					p.D467V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1400T	11						.						159.0	146.0	150.0					11																	43425615		2203	4300	6503	43382191	SO:0001583	missense	55761	exon11			AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.1400A>T	11.37:g.43425615A>T	ENSP00000039989:p.Asp467Val	Somatic		Capture	SOLID	Phase_I	43382191	NM_018259	G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	A	9.686	1.150722	0.21371	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.30981	1.51;1.53	5.83	4.7	0.59300	.	0.483859	0.25272	N	0.031864	T	0.13586	0.0329	N	0.08118	0	0.34187	D	0.671609	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.09377	0.002;0.001;0.004	T	0.11966	-1.0566	10	0.30854	T	0.27	-7.0517	4.2889	0.10869	0.615:0.0:0.1398:0.2452	.	467;467;467	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	V	467	ENSP00000299240:D467V;ENSP00000039989:D467V	ENSP00000039989:D467V	D	+	2	0	TTC17	43382191	0.580000	0.26733	0.796000	0.32109	0.643000	0.38383	1.094000	0.30951	1.040000	0.40099	0.528000	0.53228	GAT		0.393	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259	
PRDM11	56981	hgsc.bcm.edu	37	11	45245901	45245901	+	Silent	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:45245901A>G	ENST00000530656.1	+	7	978	c.978A>G	c.(976-978)gtA>gtG	p.V326V	PRDM11_ENST00000424263.2_Silent_p.V292V|PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000263765.4_Silent_p.V326V|CTD-2560E9.3_ENST00000527450.1_RNA			Q9NQV5	PRD11_HUMAN	PR domain containing 11	326							methyltransferase activity (GO:0008168)	p.V326V(1)		endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						AGGGGGATGTACACCCCCAAG	0.517																																					p.V326V	NSCLC(118;1511 1736 6472 36603 43224)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A978G	11						.						141.0	148.0	146.0					11																	45245901		2203	4299	6502	45202477	SO:0001819	synonymous_variant	56981	exon8			AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.978A>G	11.37:g.45245901A>G		Somatic		Capture	SOLID	Phase_I	45202477	NM_020229	Q8N9F1	Silent	SNP	ENST00000530656.1	37																																																																																					0.517	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	NM_020229	
MADD	8567	hgsc.bcm.edu	37	11	47346105	47346105	+	Missense_Mutation	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:47346105A>G	ENST00000311027.5	+	33	4864	c.4699A>G	c.(4699-4701)Aac>Gac	p.N1567D	MADD_ENST00000402799.1_Missense_Mutation_p.N1465D|MADD_ENST00000349238.3_Missense_Mutation_p.N1528D|MADD_ENST00000395344.3_Missense_Mutation_p.N1461D|MADD_ENST00000402192.2_Missense_Mutation_p.N1507D|MADD_ENST00000395336.3_Missense_Mutation_p.N1567D|MADD_ENST00000407859.3_Missense_Mutation_p.N1485D|MADD_ENST00000342922.4_Missense_Mutation_p.N1508D|MADD_ENST00000405573.2_Missense_Mutation_p.N377D|MADD_ENST00000406482.1_Missense_Mutation_p.N1465D	NM_003682.3	NP_003673.3			MAP-kinase activating death domain									p.N1567D(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GGAAGGGATCAACCTCAAATT	0.582																																					p.N1567D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4699G	11						.						75.0	70.0	72.0					11																	47346105		2201	4298	6499	47302681	SO:0001583	missense	8567	exon33			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.4699A>G	11.37:g.47346105A>G	ENSP00000310933:p.Asn1567Asp	Somatic		Capture	SOLID	Phase_I	47302681	NM_003682		Missense_Mutation	SNP	ENST00000311027.5	37	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.500204	0.85176	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192;ENST00000405573	T;T;T;T;T;T;T;T;T;T	0.46063	3.52;3.39;3.4;3.52;3.49;3.39;3.39;3.48;3.52;0.88	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.52141	0.1716	N	0.25647	0.755	0.80722	D	1	B;B;B;D;D;D;B;B;B;B;B	0.76494	0.004;0.004;0.004;0.998;0.999;0.998;0.007;0.007;0.013;0.006;0.007	B;B;B;D;D;D;B;B;B;B;B	0.85130	0.017;0.005;0.005;0.997;0.958;0.942;0.011;0.021;0.021;0.012;0.021	T	0.52888	-0.8515	10	0.45353	T	0.12	-23.3576	15.7144	0.77655	1.0:0.0:0.0:0.0	.	377;1461;1461;1567;1465;1465;1465;1528;1485;1567;1508	F8W8U2;B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;.;MADD_HUMAN;.	D	1508;1465;1465;1465;1528;1567;1485;1461;1567;1507;377	ENSP00000343902:N1508D;ENSP00000385585:N1465D;ENSP00000384435:N1465D;ENSP00000304505:N1528D;ENSP00000310933:N1567D;ENSP00000384204:N1485D;ENSP00000378753:N1461D;ENSP00000378745:N1567D;ENSP00000384287:N1507D;ENSP00000384483:N377D	ENSP00000310933:N1567D	N	+	1	0	MADD	47302681	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.952000	0.93031	2.114000	0.64651	0.454000	0.30748	AAC		0.582	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1		
APLNR	187	hgsc.bcm.edu	37	11	57003782	57003782	+	Missense_Mutation	SNP	G	G	A	rs200672348		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:57003782G>A	ENST00000606794.1	-	1	893	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	233					G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation (GO:0007369)|heart development (GO:0007507)|regulation of body fluid levels (GO:0050878)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)	p.R233C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CGTTCCTTGCGGAAGTGGCCA	0.622																																					p.R233C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C697T	11						.	G	CYS/ARG	0,4402		0,0,2201	101.0	86.0	91.0		697	4.5	1.0	11		91	3,8589	3.0+/-9.4	0,3,4293	no	missense	APLNR	NM_005161.4	180	0,3,6494	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	233/381	57003782	3,12991	2201	4296	6497	56760358	SO:0001583	missense	187	exon1			U03642	CCDS7950.1	11q12.1	2012-08-08	2008-05-12	2008-05-12	ENSG00000134817	ENSG00000134817			339	protein-coding gene	gene with protein product	"""APJ (apelin) receptor"""	600052	"""angiotensin II receptor-like 1"""	AGTRL1		8294032, 14622440	Standard	NM_005161		Approved	FLJ90771, APJ, APJR	uc001njo.3	P35414	OTTHUMG00000167021	ENST00000606794.1:c.697C>T	11.37:g.57003782G>A	ENSP00000475344:p.Arg233Cys	Somatic		Capture	SOLID	Phase_I	56760358	NM_005161		Missense_Mutation	SNP	ENST00000606794.1	37	CCDS7950.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365056	0.61513	0.0	3.49E-4	ENSG00000134817	ENST00000257254;ENST00000326830;ENST00000444275	T	0.43688	0.94	5.39	4.47	0.54385	GPCR, rhodopsin-like superfamily (1);	0.190122	0.46442	D	0.000297	T	0.61438	0.2347	M	0.75150	2.29	0.49483	D	0.999797	D	0.89917	1.0	D	0.73380	0.98	T	0.63972	-0.6516	10	0.59425	D	0.04	-19.0514	10.8134	0.46559	0.0:0.1421:0.7103:0.1476	.	233	P35414	APJ_HUMAN	C	233;114;152	ENSP00000257254:R233C	ENSP00000257254:R233C	R	-	1	0	APLNR	56760358	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.782000	0.68973	1.249000	0.43950	0.650000	0.86243	CGC		0.622	APLNR-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470575.1	NM_005161	
P2RX3	5024	hgsc.bcm.edu	37	11	57135887	57135887	+	Missense_Mutation	SNP	G	G	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:57135887G>T	ENST00000263314.2	+	10	1013	c.979G>T	c.(979-981)Gcg>Tcg	p.A327S		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	327					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of synaptic plasticity (GO:0048167)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to cold (GO:0009409)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)|transport (GO:0006810)|urinary bladder smooth muscle contraction (GO:0014832)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)	p.A327S(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						CAGCTCTGTGGCGGCCTTTAC	0.622																																					p.A327S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G979T	11						.						204.0	160.0	175.0					11																	57135887		2201	4296	6497	56892463	SO:0001583	missense	5024	exon10			Y07683	CCDS7953.1	11q12	2012-01-17			ENSG00000109991	ENSG00000109991		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8534	protein-coding gene	gene with protein product		600843				9221902	Standard	NM_002559		Approved	P2X3	uc001nju.3	P56373	OTTHUMG00000167025	ENST00000263314.2:c.979G>T	11.37:g.57135887G>T	ENSP00000263314:p.Ala327Ser	Somatic		Capture	SOLID	Phase_I	56892463	NM_002559	Q6DK37|Q9UQB6	Missense_Mutation	SNP	ENST00000263314.2	37	CCDS7953.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393932	0.42410	.	.	ENSG00000109991	ENST00000439993;ENST00000263314	T	0.03663	3.85	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.07098	0.0180	N	0.13043	0.29	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.37596	-0.9699	10	0.02654	T	1	-19.925	17.2809	0.87128	0.0:0.0:1.0:0.0	.	327	P56373	P2RX3_HUMAN	S	326;327	ENSP00000263314:A327S	ENSP00000263314:A327S	A	+	1	0	P2RX3	56892463	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.527000	0.81931	2.894000	0.99253	0.655000	0.94253	GCG		0.622	P2RX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392465.1	NM_002559	
FAM111A	63901	hgsc.bcm.edu	37	11	58919659	58919659	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:58919659G>A	ENST00000528737.1	+	5	3336	c.518G>A	c.(517-519)aGg>aAg	p.R173K	FAM111A_ENST00000361723.3_Missense_Mutation_p.R173K|FAM111A_ENST00000533703.1_Missense_Mutation_p.R173K|FAM111A_ENST00000531147.1_Missense_Mutation_p.R173K|FAM111A_ENST00000420244.1_Missense_Mutation_p.R173K			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	173					defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.R173K(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				ATATTTGGCAGGCAGGACAAA	0.408																																					p.R173K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G518A	11						.						112.0	109.0	110.0					11																	58919659		2201	4295	6496	58676235	SO:0001583	missense	63901	exon5			AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.518G>A	11.37:g.58919659G>A	ENSP00000434435:p.Arg173Lys	Somatic		Capture	SOLID	Phase_I	58676235	NM_001142521	A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Missense_Mutation	SNP	ENST00000528737.1	37	CCDS7973.1	.	.	.	.	.	.	.	.	.	.	G	3.820	-0.037995	0.07497	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000527629;ENST00000533703;ENST00000531147	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.45	-1.04	0.10068	.	1.755730	0.02867	N	0.131008	T	0.32041	0.0816	L	0.51422	1.61	0.09310	N	1	B	0.31581	0.329	B	0.25987	0.065	T	0.08576	-1.0715	10	0.11182	T	0.66	0.0464	5.8267	0.18558	0.4082:0.1358:0.4559:0.0	.	173	Q96PZ2	F111A_HUMAN	K	173	ENSP00000434435:R173K;ENSP00000406683:R173K;ENSP00000355264:R173K;ENSP00000433154:R173K;ENSP00000431631:R173K	ENSP00000355264:R173K	R	+	2	0	FAM111A	58676235	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	-0.319000	0.08039	0.031000	0.15407	0.557000	0.71058	AGG		0.408	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074	
ZP1	22917	hgsc.bcm.edu	37	11	60640709	60640709	+	Missense_Mutation	SNP	C	C	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:60640709C>A	ENST00000278853.5	+	7	1187	c.1187C>A	c.(1186-1188)cCt>cAt	p.P396H		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	396	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)		p.P396H(1)		breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCCCCATCGCCTGCTCCTATG	0.597																																					p.P396H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1187A	11						.						134.0	118.0	123.0					11																	60640709		2203	4299	6502	60397285	SO:0001583	missense	22917	exon7			BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"""Zona pellucida glycoproteins"""	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.1187C>A	11.37:g.60640709C>A	ENSP00000278853:p.Pro396His	Somatic		Capture	SOLID	Phase_I	60397285	NM_207341		Missense_Mutation	SNP	ENST00000278853.5	37	CCDS31572.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607049	0.66558	.	.	ENSG00000149506	ENST00000278853;ENST00000544498	D	0.83992	-1.79	4.83	4.83	0.62350	Zona pellucida sperm-binding protein (3);	0.053759	0.85682	D	0.000000	D	0.92202	0.7527	M	0.89287	3.02	0.41965	D	0.990721	D	0.89917	1.0	D	0.91635	0.999	D	0.93919	0.7204	10	0.87932	D	0	-15.6637	15.7225	0.77724	0.0:1.0:0.0:0.0	.	396	P60852	ZP1_HUMAN	H	396;103	ENSP00000278853:P396H	ENSP00000278853:P396H	P	+	2	0	ZP1	60397285	0.001000	0.12720	0.044000	0.18714	0.022000	0.10575	1.389000	0.34453	2.243000	0.73865	0.467000	0.42956	CCT		0.597	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396329.1	NM_207341	
CD6	923	hgsc.bcm.edu	37	11	60739372	60739372	+	Missense_Mutation	SNP	C	C	T	rs199949916		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:60739372C>T	ENST00000313421.7	+	1	221	c.35C>T	c.(34-36)aCg>aTg	p.T12M	CD6_ENST00000346437.4_Missense_Mutation_p.T12M|CD6_ENST00000452451.2_Missense_Mutation_p.T12M|CD6_ENST00000344028.5_Missense_Mutation_p.T12M|CD6_ENST00000352009.5_Missense_Mutation_p.T12M|CD6_ENST00000545105.1_3'UTR	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	12					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)	p.T12M(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						GGATTGCTGACGGCAGCCCTC	0.627																																					p.T12M	Pancreas(169;904 2017 4767 38890 42505)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C35T	11						.	C	MET/THR	0,4406		0,0,2203	67.0	59.0	62.0		35	-4.3	0.0	11		62	3,8595	3.0+/-9.4	0,3,4296	yes	missense	CD6	NM_006725.3	81	0,3,6499	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	12/669	60739372	3,13001	2203	4299	6502	60495948	SO:0001583	missense	923	exon1				CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"""CD molecules"""	1691	protein-coding gene	gene with protein product		186720	"""CD6 antigen"""			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.35C>T	11.37:g.60739372C>T	ENSP00000323280:p.Thr12Met	Somatic		Capture	SOLID	Phase_I	60495948	NM_006725	A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Missense_Mutation	SNP	ENST00000313421.7	37	CCDS7999.1	.	.	.	.	.	.	.	.	.	.	C	8.574	0.880619	0.17467	0.0	3.49E-4	ENSG00000013725	ENST00000344028;ENST00000346437;ENST00000313421;ENST00000542157;ENST00000433107;ENST00000452451;ENST00000352009	T;T;T;T;T;T;T	0.01438	4.92;4.92;4.91;4.89;5.03;4.91;4.91	3.7	-4.34	0.03666	.	24.182600	0.00166	N	0.000001	T	0.01523	0.0049	N	0.24115	0.695	0.09310	N	1	B;B;B;P;D	0.61080	0.297;0.062;0.062;0.928;0.989	B;B;B;B;B	0.44315	0.018;0.022;0.022;0.288;0.446	T	0.40701	-0.9549	10	0.66056	D	0.02	.	6.2015	0.20579	0.0:0.3339:0.1377:0.5284	.	12;12;12;12;12	E7ER04;P30203-5;P30203-4;P30203;Q8N4Q7	.;.;.;CD6_HUMAN;.	M	12	ENSP00000344108:T12M;ENSP00000345566:T12M;ENSP00000323280:T12M;ENSP00000440055:T12M;ENSP00000410638:T12M;ENSP00000390676:T12M;ENSP00000340628:T12M	ENSP00000323280:T12M	T	+	2	0	CD6	60495948	0.000000	0.05858	0.035000	0.18076	0.002000	0.02628	-1.009000	0.03660	-1.034000	0.03295	-1.686000	0.00732	ACG		0.627	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	NM_006725	
DDB1	1642	hgsc.bcm.edu	37	11	61070139	61070139	+	Silent	SNP	G	G	A	rs146145663	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:61070139G>A	ENST00000301764.7	-	24	3424	c.3027C>T	c.(3025-3027)caC>caT	p.H1009H	DDB1_ENST00000450997.2_Silent_p.H320H|DDB1_ENST00000538470.1_Silent_p.H56H|DDB1_ENST00000451943.2_De_novo_Start_OutOfFrame	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	1009	Interaction with CDT1 and CUL4A.|WD repeat beta-propeller C.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)	p.H1009H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CCAGAGAGCCGTGGCAAAAGA	0.577								Nucleotide excision repair (NER)					G|||	3	0.000599042	0.0023	0.0	5008	,	,		20534	0.0		0.0	False		,,,				2504	0.0				p.H1009H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3027T	11						.	G		4,4402	8.1+/-20.4	0,4,2199	137.0	140.0	139.0		3027	-2.9	1.0	11	dbSNP_134	139	3,8595	3.0+/-9.4	0,3,4296	no	coding-synonymous	DDB1	NM_001923.3		0,7,6495	AA,AG,GG		0.0349,0.0908,0.0538		1009/1141	61070139	7,12997	2203	4299	6502	60826715	SO:0001819	synonymous_variant	1642	exon24			AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.3027C>T	11.37:g.61070139G>A		Somatic		Capture	SOLID	Phase_I	60826715	NM_001923	A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Silent	SNP	ENST00000301764.7	37	CCDS31576.1																																																																																				0.577	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923	
CYB561A3	220002	hgsc.bcm.edu	37	11	61121321	61121321	+	Missense_Mutation	SNP	T	T	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:61121321T>A	ENST00000294072.4	-	4	1005	c.328A>T	c.(328-330)Act>Tct	p.T110S	CYB561A3_ENST00000426130.2_Missense_Mutation_p.T127S|CYB561A3_ENST00000540317.1_5'UTR|CYB561A3_ENST00000546151.1_Intron|CYB561A3_ENST00000544118.1_Intron|CYB561A3_ENST00000447532.2_Missense_Mutation_p.T110S|CYB561A3_ENST00000539890.1_Intron|CYB561A3_ENST00000536915.1_Missense_Mutation_p.T110S	NM_001161452.1|NM_153611.4	NP_001154924.1|NP_705839.3	Q8NBI2	CYAC3_HUMAN	cytochrome b561 family, member A3	110	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.					integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)	p.T110S(1)									AGGTTGGCAGTCCTTCCATGG	0.572																																					p.T127S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A379T	11						.						188.0	181.0	184.0					11																	61121321		2203	4299	6502	60877897	SO:0001583	missense	220002	exon5			AK024953	CCDS8004.1, CCDS53639.1, CCDS73296.1	11q12.2	2013-03-14	2013-03-14	2013-03-14		ENSG00000162144		"""Cytochrome b genes"""	23014	protein-coding gene	gene with protein product			"""cytochrome b, ascorbate dependent 3"""	CYBASC3		23249217	Standard	NM_153611		Approved		uc001nrf.4	Q8NBI2		ENST00000294072.4:c.328A>T	11.37:g.61121321T>A	ENSP00000294072:p.Thr110Ser	Somatic		Capture	SOLID	Phase_I	60877897	NM_001161454	B3KPU2|B4DLN9|J3KQH4|Q6PK96	Missense_Mutation	SNP	ENST00000294072.4	37	CCDS8004.1	.	.	.	.	.	.	.	.	.	.	T	18.44	3.625512	0.66901	.	.	ENSG00000162144	ENST00000426130;ENST00000294072;ENST00000447532;ENST00000536915;ENST00000540139;ENST00000542361;ENST00000537364;ENST00000539128	T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.92	4.8	0.61643	Cytochrome b561, eukaryote (1);Cytochrome b561/ferric reductase transmembrane (2);	0.169329	0.51477	D	0.000083	T	0.31949	0.0813	N	0.12182	0.205	0.21740	N	0.999563	P;P;P;P	0.43938	0.822;0.715;0.715;0.583	P;B;B;P	0.45998	0.5;0.188;0.367;0.5	T	0.15407	-1.0438	10	0.72032	D	0.01	-24.5546	11.7459	0.51819	0.0:0.0683:0.0:0.9316	.	127;110;110;110	B4DLN9;F5H0P5;F5H1Q2;Q8NBI2	.;.;.;CYAC3_HUMAN	S	127;110;110;110;22;110;110;110	ENSP00000398979:T127S;ENSP00000294072:T110S;ENSP00000389745:T110S;ENSP00000437390:T110S;ENSP00000441085:T22S;ENSP00000443321:T110S;ENSP00000438725:T110S;ENSP00000443005:T110S	ENSP00000294072:T110S	T	-	1	0	CYBASC3	60877897	0.994000	0.37717	0.014000	0.15608	0.007000	0.05969	4.690000	0.61731	1.079000	0.41038	0.533000	0.62120	ACT		0.572	CYB561A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398714.2	NM_153611	
AHNAK	79026	hgsc.bcm.edu	37	11	62286038	62286038	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:62286038C>T	ENST00000378024.4	-	5	16125	c.15851G>A	c.(15850-15852)gGa>gAa	p.G5284E	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'Flank	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5284					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.G5284E(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAAGTCTACTCCTGGCCCCTT	0.532																																					p.G5284E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G15851A	11						.						65.0	67.0	66.0					11																	62286038		2202	4299	6501	62042614	SO:0001583	missense	79026	exon5			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.15851G>A	11.37:g.62286038C>T	ENSP00000367263:p.Gly5284Glu	Somatic		Capture	SOLID	Phase_I	62042614	NM_001620	A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	3.070	-0.191379	0.06299	.	.	ENSG00000124942	ENST00000378024	T	0.00637	6.05	4.82	1.34	0.21922	.	0.855633	0.09676	U	0.770415	T	0.00666	0.0022	L	0.29908	0.895	0.19775	N	0.999957	P	0.36974	0.576	B	0.42593	0.392	T	0.41466	-0.9507	10	0.09843	T	0.71	1.5853	4.8943	0.13742	0.0:0.136:0.1892:0.6748	.	5284	Q09666	AHNK_HUMAN	E	5284	ENSP00000367263:G5284E	ENSP00000367263:G5284E	G	-	2	0	AHNAK	62042614	0.000000	0.05858	0.428000	0.26697	0.860000	0.49131	-0.017000	0.12590	0.004000	0.14682	-0.195000	0.12781	GGA		0.532	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
NXF1	10482	hgsc.bcm.edu	37	11	62561829	62561829	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:62561829G>A	ENST00000532297.1	-	20	2290	c.1661C>T	c.(1660-1662)aCg>aTg	p.T554M	TMEM223_ENST00000307366.7_5'Flank|NXF1_ENST00000531709.2_3'UTR|TMEM223_ENST00000527073.1_5'Flank|NXF1_ENST00000294172.2_Missense_Mutation_p.T554M|NXF1_ENST00000533048.1_5'UTR|TMEM223_ENST00000525631.1_5'Flank			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	554	Pro-rich.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.T554M(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGAGGAAGGCGTGGGTGCAGG	0.527																																					p.T554M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1661T	11						.						113.0	106.0	109.0					11																	62561829		2201	4299	6500	62318405	SO:0001583	missense	10482	exon19			AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.1661C>T	11.37:g.62561829G>A	ENSP00000436679:p.Thr554Met	Somatic		Capture	SOLID	Phase_I	62318405	NM_006362	B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	ENST00000532297.1	37	CCDS8037.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.05|17.05	3.289832|3.289832	0.59976|0.59976	.|.	.|.	ENSG00000162231|ENSG00000162231	ENST00000527902|ENST00000294172;ENST00000532297;ENST00000530875	.|T;T;T	.|0.50277	.|0.76;0.76;0.75	5.38|5.38	3.49|3.49	0.39957|0.39957	.|UBA-like (1);	.|0.052049	.|0.85682	.|D	.|0.000000	T|T	0.56277|0.56277	0.1974|0.1974	M|M	0.79258|0.79258	2.445|2.445	0.80722|0.80722	D|D	1|1	.|D;P	.|0.58620	.|0.983;0.817	.|P;B	.|0.51487	.|0.671;0.115	T|T	0.59989|0.59989	-0.7350|-0.7350	5|10	.|0.48119	.|T	.|0.1	-12.5873|-12.5873	10.1724|10.1724	0.42917|0.42917	0.1676:0.0:0.8324:0.0|0.1676:0.0:0.8324:0.0	.|.	.|597;554	.|E9PIN3;Q9UBU9	.|.;NXF1_HUMAN	C|M	59|554;554;597	.|ENSP00000294172:T554M;ENSP00000436679:T554M;ENSP00000435742:T597M	.|ENSP00000294172:T554M	R|T	-|-	1|2	0|0	NXF1|NXF1	62318405|62318405	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.980000|0.980000	0.70556|0.70556	7.644000|7.644000	0.83416|0.83416	1.276000|1.276000	0.44395|0.44395	0.462000|0.462000	0.41574|0.41574	CGC|ACG		0.527	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2	NM_006362	
PLCB3	5331	hgsc.bcm.edu	37	11	64026065	64026065	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:64026065C>T	ENST00000540288.1	+	11	1236	c.1133C>T	c.(1132-1134)aCc>aTc	p.T378I	PLCB3_ENST00000325234.5_Missense_Mutation_p.T311I|PLCB3_ENST00000279230.6_Missense_Mutation_p.T378I	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	378	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.T378I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CCCTTCATTACCCACGGCTTC	0.637																																					p.T311I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C932T	11						.						131.0	109.0	117.0					11																	64026065		2201	4297	6498	63782641	SO:0001583	missense	5331	exon9			Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.1133C>T	11.37:g.64026065C>T	ENSP00000443631:p.Thr378Ile	Somatic		Capture	SOLID	Phase_I	63782641	NM_001184883	A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	37	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.832145	0.91036	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.64260	-0.09;-0.09;-0.09	4.88	4.88	0.63580	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.85682	D	0.000000	D	0.83303	0.5225	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.87237	0.2264	10	0.62326	D	0.03	.	16.7888	0.85582	0.0:1.0:0.0:0.0	.	311;378	G5E960;Q01970	.;PLCB3_HUMAN	I	378;378;311	ENSP00000279230:T378I;ENSP00000443631:T378I;ENSP00000324660:T311I	ENSP00000279230:T378I	T	+	2	0	PLCB3	63782641	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.705000	0.84606	2.268000	0.75426	0.484000	0.47621	ACC		0.637	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1		
MEN1	4221	hgsc.bcm.edu	37	11	64575147	64575147	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:64575147C>T	ENST00000337652.1	-	4	1178	c.675G>A	c.(673-675)tgG>tgA	p.W225*	MEN1_ENST00000377313.1_Nonsense_Mutation_p.W225*|MEN1_ENST00000377316.2_Nonsense_Mutation_p.W220*|MEN1_ENST00000377326.3_Nonsense_Mutation_p.W220*|MEN1_ENST00000312049.6_Nonsense_Mutation_p.W220*|MEN1_ENST00000443283.1_Nonsense_Mutation_p.W225*|MEN1_ENST00000478548.1_5'Flank|MEN1_ENST00000394376.1_Nonsense_Mutation_p.W225*|MEN1_ENST00000394374.2_Nonsense_Mutation_p.W225*|MEN1_ENST00000315422.4_Nonsense_Mutation_p.W220*|MEN1_ENST00000377321.1_Nonsense_Mutation_p.W185*	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	225	Interaction with FANCD2.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.W220*(1)|p.L221_L223del(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						TCAGGTACAGCCAGCTCTTAG	0.552			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												p.W225X	Esophageal Squamous(1;83 158 15500 18603 18803 29295)	yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	multiple endocrine neoplasia type 1 gene		E	.	.	2	Substitution - Nonsense(1)|Deletion - In frame(1)	large_intestine(1)|pancreas(1)	c.G675A	11	GRCh37	CM050065	MEN1	M		.						104.0	92.0	96.0					11																	64575147		2201	4297	6498	64331723	SO:0001587	stop_gained	4221	exon4	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.675G>A	11.37:g.64575147C>T	ENSP00000337088:p.Trp225*	Somatic		Capture	SOLID	Phase_I	64331723	NM_130802	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Nonsense_Mutation	SNP	ENST00000337652.1	37	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	C	35	5.448311	0.96205	.	.	ENSG00000133895	ENST00000377316;ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313;ENST00000440873;ENST00000450708;ENST00000413626	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.4345	15.7433	0.77920	0.0:1.0:0.0:0.0	.	.	.	.	X	220;185;220;220;220;225;225;225;225;225;220;220;220	.	ENSP00000308975:W220X	W	-	3	0	MEN1	64331723	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	6.794000	0.75135	2.386000	0.81285	0.462000	0.41574	TGG		0.552	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1		
KLC2	64837	hgsc.bcm.edu	37	11	66033610	66033610	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:66033610G>A	ENST00000417856.1	+	14	1892	c.1649G>A	c.(1648-1650)cGg>cAg	p.R550Q	KLC2_ENST00000421552.1_Missense_Mutation_p.R473Q|RP11-867G23.2_ENST00000533287.1_RNA|RAB1B_ENST00000527397.1_5'Flank|KLC2_ENST00000394066.2_Missense_Mutation_p.R473Q|KLC2_ENST00000394078.1_Intron|KLC2_ENST00000394067.2_Missense_Mutation_p.R550Q|KLC2_ENST00000316924.5_Missense_Mutation_p.R550Q|RAB1B_ENST00000311481.6_5'Flank|RP11-867G23.1_ENST00000530805.1_RNA|KLC2_ENST00000394065.2_Missense_Mutation_p.R411Q	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	550					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)	p.R550Q(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GGGAAACTCCGGGATGCCCTG	0.667																																					p.R550Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1649A	11						.						35.0	38.0	37.0					11																	66033610		2200	4295	6495	65790186	SO:0001583	missense	64837	exon14			AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"""Tetratricopeptide (TTC) repeat domain containing"""	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.1649G>A	11.37:g.66033610G>A	ENSP00000399403:p.Arg550Gln	Somatic		Capture	SOLID	Phase_I	65790186	NM_001134775	A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Missense_Mutation	SNP	ENST00000417856.1	37	CCDS8130.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173294	0.57584	.	.	ENSG00000174996	ENST00000417856;ENST00000394067;ENST00000316924;ENST00000421552;ENST00000394066;ENST00000394065	D;D;D;D;D;D	0.90620	-2.08;-2.08;-2.08;-2.13;-2.13;-2.7	4.11	3.12	0.35913	.	0.000000	0.64402	D	0.000006	D	0.93271	0.7856	M	0.72894	2.215	0.47659	D	0.999484	D;D;D	0.89917	0.997;0.997;1.0	D;D;D	0.80764	0.968;0.953;0.994	D	0.91628	0.5316	10	0.35671	T	0.21	-11.5545	9.7419	0.40424	0.0:0.0:0.7934:0.2066	.	411;473;550	A8MZ87;A8MXL7;Q9H0B6	.;.;KLC2_HUMAN	Q	550;550;550;473;473;411	ENSP00000399403:R550Q;ENSP00000377631:R550Q;ENSP00000314837:R550Q;ENSP00000408484:R473Q;ENSP00000377630:R473Q;ENSP00000377629:R411Q	ENSP00000314837:R550Q	R	+	2	0	KLC2	65790186	1.000000	0.71417	0.996000	0.52242	0.105000	0.19272	5.112000	0.64634	1.857000	0.53885	0.491000	0.48974	CGG		0.667	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258200.1	NM_022822	
SPTBN2	6712	hgsc.bcm.edu	37	11	66460505	66460505	+	Missense_Mutation	SNP	C	C	T	rs143640999	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:66460505C>T	ENST00000533211.1	-	25	5252	c.4921G>A	c.(4921-4923)Gcg>Acg	p.A1641T	SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1641T|SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1641T			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1641					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)	p.A1641T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						ATGGTCTGCGCGTAGTCGGCC	0.662													C|||	9	0.00179712	0.0	0.0058	5008	,	,		18514	0.005		0.0	False		,,,				2504	0.0				p.A1641T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4921A	11						.	C	THR/ALA	2,4398	4.2+/-10.8	0,2,2198	83.0	80.0	81.0		4921	3.8	1.0	11	dbSNP_134	81	0,8590		0,0,4295	yes	missense	SPTBN2	NM_006946.2	58	0,2,6493	TT,TC,CC		0.0,0.0455,0.0154	possibly-damaging	1641/2391	66460505	2,12988	2200	4295	6495	66217081	SO:0001583	missense	6712	exon24			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.4921G>A	11.37:g.66460505C>T	ENSP00000432568:p.Ala1641Thr	Somatic		Capture	SOLID	Phase_I	66217081	NM_006946	O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	CCDS8150.1	4	0.0018315018315018315	0	0.0	3	0.008287292817679558	1	0.0017482517482517483	0	0.0	C	17.93	3.508264	0.64410	4.55E-4	0.0	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.51325	0.71;0.71;0.71	4.7	3.77	0.43336	.	0.000000	0.85682	D	0.000000	T	0.58481	0.2125	M	0.81341	2.54	0.58432	D	0.999998	D	0.65815	0.995	D	0.63597	0.916	T	0.65890	-0.6058	10	0.41790	T	0.15	.	13.2575	0.60087	0.16:0.84:0.0:0.0	.	1641	O15020	SPTN2_HUMAN	T	1641	ENSP00000432568:A1641T;ENSP00000311489:A1641T;ENSP00000433593:A1641T	ENSP00000311489:A1641T	A	-	1	0	SPTBN2	66217081	1.000000	0.71417	0.976000	0.42696	0.393000	0.30537	4.537000	0.60643	1.178000	0.42870	0.462000	0.41574	GCG		0.662	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946	
SYT12	91683	hgsc.bcm.edu	37	11	66816067	66816067	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:66816067C>T	ENST00000393946.2	+	11	2267	c.1105C>T	c.(1105-1107)Cgc>Tgc	p.R369C	SYT12_ENST00000525457.1_Missense_Mutation_p.R369C|SYT12_ENST00000527043.1_Missense_Mutation_p.R369C			Q8IV01	SYT12_HUMAN	synaptotagmin XII	369	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|synapse (GO:0045202)		p.R369C(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						CCTGTCTCTCCGCGTGACGGT	0.597																																					p.R369C	Ovarian(65;2862 3307)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1105T	11						.						72.0	62.0	65.0					11																	66816067		2200	4295	6495	66572643	SO:0001583	missense	91683	exon8			AK024280	CCDS8154.1	11q13.2	2014-07-02			ENSG00000173227	ENSG00000173227		"""Synaptotagmins"""	18381	protein-coding gene	gene with protein product		606436				8987811	Standard	NM_177963		Approved	SRG1	uc001oju.3	Q8IV01	OTTHUMG00000167101	ENST00000393946.2:c.1105C>T	11.37:g.66816067C>T	ENSP00000377520:p.Arg369Cys	Somatic		Capture	SOLID	Phase_I	66572643	NM_001177880		Missense_Mutation	SNP	ENST00000393946.2	37	CCDS8154.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644941	0.67358	.	.	ENSG00000173227	ENST00000393946;ENST00000525457;ENST00000527043	T;T;T	0.70516	-0.49;-0.49;-0.49	4.59	3.62	0.41486	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.78585	0.4306	L	0.60012	1.86	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76745	-0.2846	10	0.38643	T	0.18	.	10.6681	0.45743	0.2902:0.7098:0.0:0.0	.	369	Q8IV01	SYT12_HUMAN	C	369	ENSP00000377520:R369C;ENSP00000431400:R369C;ENSP00000435316:R369C	ENSP00000377520:R369C	R	+	1	0	SYT12	66572643	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	3.235000	0.51328	2.270000	0.75569	0.462000	0.41574	CGC		0.597	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393129.1	NM_177963	
SUV420H1	51111	hgsc.bcm.edu	37	11	67953336	67953336	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:67953336C>T	ENST00000304363.4	-	3	573	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	SUV420H1_ENST00000401547.2_Missense_Mutation_p.A74T|SUV420H1_ENST00000402789.1_Missense_Mutation_p.A74T|SUV420H1_ENST00000402185.2_Missense_Mutation_p.A74T|SUV420H1_ENST00000405515.1_Missense_Mutation_p.A74T	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	74				A -> P (in Ref. 4; AAD34080). {ECO:0000305}.	histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)	p.A74T(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AGTTCCTTGGCGGACATTCCA	0.378																																					p.A74T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G220A	11						.						129.0	125.0	126.0					11																	67953336		2200	4294	6494	67709912	SO:0001583	missense	51111	exon3			AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.220G>A	11.37:g.67953336C>T	ENSP00000305899:p.Ala74Thr	Somatic		Capture	SOLID	Phase_I	67709912	NM_016028	B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	C	33	5.208934	0.95069	.	.	ENSG00000110066	ENST00000304363;ENST00000401547;ENST00000405515;ENST00000402789;ENST00000402185;ENST00000453170;ENST00000458496;ENST00000434573	T;T;T;T;T;T;T;T	0.50813	0.99;0.99;0.99;0.99;0.73;0.99;0.99;0.99	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.66137	0.2759	L	0.50333	1.59	0.80722	D	1	D;D;D;D	0.89917	0.999;0.996;0.997;1.0	D;D;P;D	0.71656	0.924;0.937;0.879;0.974	T	0.63492	-0.6625	10	0.62326	D	0.03	-25.4402	20.8794	0.99867	0.0:1.0:0.0:0.0	.	74;74;74;74	B7WNX0;B5MCB3;Q4FZB7-2;Q4FZB7	.;.;.;SV421_HUMAN	T	74;74;74;74;74;3;3;74	ENSP00000305899:A74T;ENSP00000385965:A74T;ENSP00000385640:A74T;ENSP00000385005:A74T;ENSP00000384724:A74T;ENSP00000406377:A3T;ENSP00000403233:A3T;ENSP00000402921:A74T	ENSP00000305899:A74T	A	-	1	0	SUV420H1	67709912	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	5.999000	0.70665	2.941000	0.99782	0.655000	0.94253	GCC		0.378	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635	
PPFIA1	8500	hgsc.bcm.edu	37	11	70202331	70202331	+	Missense_Mutation	SNP	G	G	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:70202331G>T	ENST00000253925.7	+	19	2768	c.2553G>T	c.(2551-2553)caG>caT	p.Q851H	PPFIA1_ENST00000389547.3_Missense_Mutation_p.Q851H|AP000487.4_ENST00000324630.5_RNA|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	851					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)	p.Q851H(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGGGGGGACAGGCTGAAAAAA	0.408																																					p.Q851H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2553T	11						.						115.0	121.0	119.0					11																	70202331		2200	4294	6494	69879979	SO:0001583	missense	8500	exon19			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.2553G>T	11.37:g.70202331G>T	ENSP00000253925:p.Gln851His	Somatic		Capture	SOLID	Phase_I	69879979	NM_003626	A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	CCDS31627.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.84|17.84	3.486971|3.486971	0.63962|0.63962	.|.	.|.	ENSG00000131626|ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000544950|ENST00000528750	T;T|.	0.19806|.	2.12;2.12|.	4.95|4.95	2.03|2.03	0.26663|0.26663	.|.	0.157324|.	0.44688|.	D|.	0.000432|.	T|T	0.47673|0.47673	0.1458|0.1458	L|L	0.55990|0.55990	1.75|1.75	0.30442|0.30442	N|N	0.776079|0.776079	P;D|.	0.57571|.	0.881;0.98|.	P;P|.	0.58013|.	0.615;0.831|.	T|T	0.47799|0.47799	-0.9089|-0.9089	10|5	0.54805|.	T|.	0.06|.	.|.	8.6555|8.6555	0.34060|0.34060	0.3168:0.0:0.6832:0.0|0.3168:0.0:0.6832:0.0	.|.	851;851|.	Q13136;Q13136-2|.	LIPA1_HUMAN;.|.	H|M	851;851;348|294	ENSP00000253925:Q851H;ENSP00000374198:Q851H|.	ENSP00000253925:Q851H|.	Q|R	+|+	3|2	2|0	PPFIA1|PPFIA1	69879979|69879979	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.998000|0.998000	0.95712|0.95712	1.633000|1.633000	0.37113|0.37113	0.218000|0.218000	0.20820|0.20820	0.655000|0.655000	0.94253|0.94253	CAG|AGG		0.408	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626	
C2CD3	26005	hgsc.bcm.edu	37	11	73814582	73814582	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:73814582G>A	ENST00000334126.7	-	14	2400	c.2174C>T	c.(2173-2175)gCt>gTt	p.A725V	C2CD3_ENST00000313663.7_Missense_Mutation_p.A725V			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	725					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)		p.A725V(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ACTTGTAGGAGCACAAAGTGG	0.373																																					p.A725V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2174T	11						.						168.0	168.0	168.0					11																	73814582		2200	4293	6493	73492230	SO:0001583	missense	26005	exon14			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.2174C>T	11.37:g.73814582G>A	ENSP00000334379:p.Ala725Val	Somatic		Capture	SOLID	Phase_I	73492230	NM_015531	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37		.	.	.	.	.	.	.	.	.	.	G	10.50	1.368529	0.24771	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.10763	2.84;2.85	5.82	1.15	0.20763	.	0.773939	0.12198	N	0.490572	T	0.08802	0.0218	L	0.43152	1.355	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.31194	-0.9952	10	0.48119	T	0.1	-1.7653	4.3863	0.11318	0.1554:0.1176:0.5914:0.1355	.	725	Q4AC94-1	.	V	725	ENSP00000334379:A725V;ENSP00000323339:A725V	ENSP00000323339:A725V	A	-	2	0	C2CD3	73492230	0.099000	0.21834	0.622000	0.29159	0.527000	0.34593	1.155000	0.31700	0.320000	0.23234	0.655000	0.94253	GCT		0.373	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531	
RAB38	23682	hgsc.bcm.edu	37	11	87908410	87908410	+	Missense_Mutation	SNP	A	A	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:87908410A>C	ENST00000243662.6	-	1	225	c.143T>G	c.(142-144)cTc>cGc	p.L48R	MIR3166_ENST00000577344.1_RNA	NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	48					endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome acidification (GO:0090383)|platelet dense granule organization (GO:0060155)|protein localization to membrane (GO:0072657)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)	p.L48R(1)		large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GAGCACCTTGAGCGCGAAGTC	0.642																																					p.L48R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T143G	11						.						85.0	61.0	69.0					11																	87908410		2201	4299	6500	87548058	SO:0001583	missense	23682	exon1			AF235022	CCDS8281.1	11q14	2008-05-14			ENSG00000123892	ENSG00000123892		"""RAB, member RAS oncogene"""	9776	protein-coding gene	gene with protein product		606281				10910072	Standard	NM_022337		Approved	NY-MEL-1	uc001pcj.2	P57729	OTTHUMG00000167288	ENST00000243662.6:c.143T>G	11.37:g.87908410A>C	ENSP00000243662:p.Leu48Arg	Somatic		Capture	SOLID	Phase_I	87548058	NM_022337	Q53XK7	Missense_Mutation	SNP	ENST00000243662.6	37	CCDS8281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.6|27.6	4.846596|4.846596	0.91277|0.91277	.|.	.|.	ENSG00000123892|ENSG00000123892	ENST00000243662|ENST00000526372	T|.	0.79845|.	-1.31|.	5.2|5.2	5.2|5.2	0.72013|0.72013	Small GTP-binding protein domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62588|0.62588	0.2440|0.2440	L|L	0.48642|0.48642	1.525|1.525	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.81914|.	0.995|.	T|T	0.60172|0.60172	-0.7315|-0.7315	9|5	.|.	.|.	.|.	-9.474|-9.474	15.238|15.238	0.73447|0.73447	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	48|.	P57729|.	RAB38_HUMAN|.	R|A	48|65	ENSP00000243662:L48R|.	.|.	L|S	-|-	2|1	0|0	RAB38|RAB38	87548058|87548058	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	9.028000|9.028000	0.93712|0.93712	2.174000|2.174000	0.68829|0.68829	0.533000|0.533000	0.62120|0.62120	CTC|TCA		0.642	RAB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394015.2		
GRM5	2915	hgsc.bcm.edu	37	11	88386398	88386398	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:88386398C>T	ENST00000305447.4	-	3	1234	c.1085G>A	c.(1084-1086)cGt>cAt	p.R362H	GRM5_ENST00000305432.5_Missense_Mutation_p.R362H|GRM5_ENST00000393297.1_Missense_Mutation_p.R362H|GRM5_ENST00000455756.2_Missense_Mutation_p.R362H|GRM5_ENST00000418177.2_Missense_Mutation_p.R362H	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	362					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.R362H(1)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	GCACTGAAAACGATGCTGCCA	0.413																																					p.R362H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1085A	11						.						89.0	87.0	88.0					11																	88386398		2201	4299	6500	88026046	SO:0001583	missense	2915	exon4			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1085G>A	11.37:g.88386398C>T	ENSP00000306138:p.Arg362His	Somatic		Capture	SOLID	Phase_I	88026046	NM_000842	Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	C	33	5.205236	0.95033	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06	5.77	5.77	0.91146	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.86117	0.5856	N	0.11789	0.175	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	D	0.85068	0.0938	9	.	.	.	.	19.9803	0.97323	0.0:1.0:0.0:0.0	.	362;362	P41594-2;P41594	.;GRM5_HUMAN	H	362	ENSP00000402912:R362H;ENSP00000405690:R362H;ENSP00000305905:R362H;ENSP00000306138:R362H;ENSP00000376975:R362H	.	R	-	2	0	GRM5	88026046	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.754000	0.68743	2.718000	0.92993	0.591000	0.81541	CGT		0.413	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842	
NAALAD2	10003	hgsc.bcm.edu	37	11	89924790	89924790	+	Missense_Mutation	SNP	G	G	A	rs143530630		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:89924790G>A	ENST00000534061.1	+	19	2328	c.2098G>A	c.(2098-2100)Gat>Aat	p.D700N	NAALAD2_ENST00000321955.4_Missense_Mutation_p.D667N|NAALAD2_ENST00000375944.3_Missense_Mutation_p.M287I	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	700					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)	p.D700N(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TGGAATCTATGATGCTATCTT	0.358																																					p.D700N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2098A	11						.	G	ASN/ASP	0,4402		0,0,2201	97.0	98.0	98.0		2098	5.3	1.0	11	dbSNP_134	98	1,8595	1.2+/-3.3	0,1,4297	yes	missense	NAALAD2	NM_005467.3	23	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	700/741	89924790	1,12997	2201	4298	6499	89564438	SO:0001583	missense	10003	exon19			AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.2098G>A	11.37:g.89924790G>A	ENSP00000432481:p.Asp700Asn	Somatic		Capture	SOLID	Phase_I	89564438	NM_005467	B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	CCDS8288.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.84|17.84	3.488963|3.488963	0.64074|0.64074	0.0|0.0	1.16E-4|1.16E-4	ENSG00000077616|ENSG00000077616	ENST00000534061;ENST00000321955|ENST00000375944	T;T|T	0.71817|0.11063	-0.6;-0.6|2.81	5.26|5.26	5.26|5.26	0.73747|0.73747	Transferrin receptor-like, dimerisation domain (3);|.	0.082382|.	0.50627|.	D|.	0.000120|.	T|T	0.19644|0.19644	0.0472|0.0472	M|M	0.81497|0.81497	2.545|2.545	0.36634|0.36634	D|D	0.876476|0.876476	D|B	0.89917|0.12630	1.0|0.006	D|B	0.85130|0.13407	0.997|0.009	T|T	0.10291|0.10291	-1.0636|-1.0636	9|8	.|.	.|.	.|.	-24.9828|-24.9828	19.3033|19.3033	0.94151|0.94151	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	700|287	Q9Y3Q0|Q4KKV4	NALD2_HUMAN|.	N|I	700;667|287	ENSP00000432481:D700N;ENSP00000320083:D667N|ENSP00000365111:M287I	.|.	D|M	+|+	1|3	0|0	NAALAD2|NAALAD2	89564438|89564438	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.854000|0.854000	0.48673|0.48673	8.806000|8.806000	0.91930|0.91930	2.638000|2.638000	0.89438|0.89438	0.454000|0.454000	0.30748|0.30748	GAT|ATG		0.358	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467	
TECTA	7007	hgsc.bcm.edu	37	11	121061450	121061452	+	In_Frame_Del	DEL	CTT	CTT	-	rs377119529		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	CTT	CTT	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:121061450_121061452delCTT	ENST00000392793.1	+	24	6674_6676	c.6403_6405delCTT	c.(6403-6405)cttdel	p.L2137del	TECTA_ENST00000264037.2_In_Frame_Del_p.L2137del			O75443	TECTA_HUMAN	tectorin alpha	2137					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.L2135delL(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGTCTGGACGCTTCTTCTCATCA	0.384																																					p.2135_2135del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.6403_6405del	11						.																																			120566662	SO:0001651	inframe_deletion	7007	exon23			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.6403_6405delCTT	11.37:g.121061453_121061455delCTT	ENSP00000376543:p.Leu2137del	Somatic		Capture	SOLID	Phase_I	120566660	NM_005422		In_Frame_Del	DEL	ENST00000392793.1	37	CCDS8434.1																																																																																				0.384	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422	
SNX19	399979	hgsc.bcm.edu	37	11	130777941	130777941	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr11:130777941G>A	ENST00000265909.4	-	5	2641	c.2072C>T	c.(2071-2073)gCg>gTg	p.A691V	SNX19_ENST00000539184.1_Missense_Mutation_p.A134V|SNX19_ENST00000533214.1_Missense_Mutation_p.A691V|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000534726.1_5'UTR|SNX19_ENST00000528555.1_Missense_Mutation_p.A71V|SNX19_ENST00000545537.1_Intron|SNX19_ENST00000530356.1_Missense_Mutation_p.A71V	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	691					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.A691V(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GCGAGGAAACGCTGTCTTCAA	0.572																																					p.A691V												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C2072T	11						.						118.0	102.0	107.0					11																	130777941		2201	4297	6498	130283151	SO:0001583	missense	399979	exon5			D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.2072C>T	11.37:g.130777941G>A	ENSP00000265909:p.Ala691Val	Somatic		Capture	SOLID	Phase_I	130283151	NM_014758	E9PKB9|Q8IV55	Missense_Mutation	SNP	ENST00000265909.4	37	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	G	36	5.621626	0.96660	.	.	ENSG00000120451	ENST00000265909;ENST00000528555;ENST00000530356;ENST00000539184;ENST00000533214	T;T;T;T;T	0.25912	2.5;1.77;1.77;2.02;2.08	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.54854	0.1884	M	0.75264	2.295	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.95;0.978;0.998	T	0.47169	-0.9138	10	0.45353	T	0.12	-22.8412	20.5568	0.99304	0.0:0.0:1.0:0.0	.	134;691;691	F5H5D1;E9PKB9;Q92543	.;.;SNX19_HUMAN	V	691;71;71;134;691	ENSP00000265909:A691V;ENSP00000435122:A71V;ENSP00000432307:A71V;ENSP00000443480:A134V;ENSP00000435390:A691V	ENSP00000265909:A691V	A	-	2	0	SNX19	130283151	1.000000	0.71417	0.976000	0.42696	0.996000	0.88848	9.369000	0.97156	2.861000	0.98227	0.655000	0.94253	GCG		0.572	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758	
MICAL1	64780	hgsc.bcm.edu	37	6	109771202	109771202	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:109771202G>A	ENST00000358807.3	-	9	1589	c.1278C>T	c.(1276-1278)ggC>ggT	p.G426G	MICAL1_ENST00000358577.3_Silent_p.G340G|MICAL1_ENST00000483856.1_5'Flank|MICAL1_ENST00000368952.4_Silent_p.G445G	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	426	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	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)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.G426G(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GGGACTCAGCGCCCTCTGCCC	0.627																																					p.G340G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1020T	6						.						211.0	205.0	207.0					6																	109771202		2203	4300	6503	109877895	SO:0001819	synonymous_variant	64780	exon8			AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.1278C>T	6.37:g.109771202G>A		Somatic		Capture	SOLID	Phase_I	109877895	NM_001159291	B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Silent	SNP	ENST00000358807.3	37	CCDS5076.1																																																																																				0.627	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765	
GPR6	2830	hgsc.bcm.edu	37	6	110300850	110300850	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:110300850C>T	ENST00000275169.3	+	1	553	c.535C>T	c.(535-537)Cgc>Tgc	p.R179C	GPR6_ENST00000414000.2_Missense_Mutation_p.R194C	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	179					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.R179C(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		CTATTACTCGCGCCGGACCCT	0.662																																					p.R179C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C535T	6						.						45.0	46.0	46.0					6																	110300850		2203	4300	6503	110407543	SO:0001583	missense	2830	exon1				CCDS5079.1, CCDS69172.1	6q21	2012-08-21				ENSG00000146360		"""GPCR / Class A : Orphans"""	4515	protein-coding gene	gene with protein product		600553				8530049	Standard	NM_001286099		Approved		uc003ptu.3	P46095	OTTHUMG00000015354	ENST00000275169.3:c.535C>T	6.37:g.110300850C>T	ENSP00000275169:p.Arg179Cys	Somatic		Capture	SOLID	Phase_I	110407543	NM_005284	B4DHS9|J3KQR3|Q17RJ7|Q5SYL0	Missense_Mutation	SNP	ENST00000275169.3	37	CCDS5079.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131229	0.77549	.	.	ENSG00000146360	ENST00000428489;ENST00000414000;ENST00000275169	T;T	0.73469	-0.75;-0.75	4.83	3.92	0.45320	GPCR, rhodopsin-like superfamily (1);	0.135103	0.49305	D	0.000150	T	0.75436	0.3849	L	0.57536	1.79	0.58432	D	0.999992	D;D	0.76494	0.999;0.965	P;P	0.60012	0.867;0.806	T	0.77078	-0.2721	10	0.56958	D	0.05	.	12.011	0.53286	0.0:0.6173:0.3827:0.0	.	194;179	B4DHS9;P46095	.;GPR6_HUMAN	C	179;194;179	ENSP00000406986:R194C;ENSP00000275169:R179C	ENSP00000275169:R179C	R	+	1	0	GPR6	110407543	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.812000	0.69194	2.504000	0.84457	0.563000	0.77884	CGC		0.662	GPR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041774.1		
KIAA1919	91749	hgsc.bcm.edu	37	6	111587618	111587618	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:111587618G>A	ENST00000368847.4	+	4	1206	c.853G>A	c.(853-855)Gca>Aca	p.A285T		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	285					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.A285T(1)		large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		CAGGGGCCTGGCAATCTTTTT	0.463																																					p.A285T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G853A	6						.						104.0	109.0	107.0					6																	111587618		2203	4300	6503	111694311	SO:0001583	missense	91749	exon4			BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.853G>A	6.37:g.111587618G>A	ENSP00000357840:p.Ala285Thr	Somatic		Capture	SOLID	Phase_I	111694311	NM_153369	A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Missense_Mutation	SNP	ENST00000368847.4	37	CCDS5090.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714453	0.89112	.	.	ENSG00000173214	ENST00000368847	T	0.59364	0.27	6.05	6.05	0.98169	Major facilitator superfamily domain, general substrate transporter (1);	0.048120	0.85682	D	0.000000	T	0.73273	0.3566	M	0.80616	2.505	0.80722	D	1	D	0.67145	0.996	D	0.70227	0.968	T	0.75147	-0.3420	10	0.66056	D	0.02	-22.7298	16.8454	0.85979	0.0:0.0:0.8711:0.1289	.	285	Q5TF39	NAGT1_HUMAN	T	285	ENSP00000357840:A285T	ENSP00000357840:A285T	A	+	1	0	KIAA1919	111694311	1.000000	0.71417	0.999000	0.59377	0.822000	0.46500	7.117000	0.77129	2.875000	0.98604	0.643000	0.83706	GCA		0.463	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041827.1	NM_153369	
KIAA1919	91749	hgsc.bcm.edu	37	6	111588147	111588147	+	Missense_Mutation	SNP	A	A	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:111588147A>C	ENST00000368847.4	+	4	1735	c.1382A>C	c.(1381-1383)gAt>gCt	p.D461A		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	461					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.D461A(1)		large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		GAAACGAATGATACAATGAGG	0.398																																					p.D461A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1382C	6						.						109.0	113.0	111.0					6																	111588147		2203	4300	6503	111694840	SO:0001583	missense	91749	exon4			BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.1382A>C	6.37:g.111588147A>C	ENSP00000357840:p.Asp461Ala	Somatic		Capture	SOLID	Phase_I	111694840	NM_153369	A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Missense_Mutation	SNP	ENST00000368847.4	37	CCDS5090.1	.	.	.	.	.	.	.	.	.	.	A	11.13	1.547558	0.27652	.	.	ENSG00000173214	ENST00000368847	T	0.54479	0.57	5.85	4.66	0.58398	.	0.160280	0.52532	D	0.000064	T	0.40196	0.1107	L	0.48642	1.525	0.48288	D	0.999625	D	0.55605	0.972	P	0.48304	0.573	T	0.43360	-0.9396	10	0.72032	D	0.01	-3.8205	12.2237	0.54447	0.8722:0.0:0.0:0.1278	.	461	Q5TF39	NAGT1_HUMAN	A	461	ENSP00000357840:D461A	ENSP00000357840:D461A	D	+	2	0	KIAA1919	111694840	0.998000	0.40836	0.028000	0.17463	0.090000	0.18270	4.440000	0.59975	1.002000	0.39104	0.523000	0.50628	GAT		0.398	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041827.1	NM_153369	
C6orf58	352999	hgsc.bcm.edu	37	6	127902337	127902337	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:127902337C>T	ENST00000329722.7	+	4	596	c.584C>T	c.(583-585)tCa>tTa	p.S195L		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	195						extracellular vesicular exosome (GO:0070062)		p.S195L(1)		kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		TATTTGCAGTCACCTTTTAGT	0.323																																					p.S195L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C584T	6						.						98.0	95.0	96.0					6																	127902337		2203	4296	6499	127944030	SO:0001583	missense	352999	exon4			BC062712	CCDS34533.1	6q22.33	2011-12-13			ENSG00000184530	ENSG00000184530			20960	protein-coding gene	gene with protein product							Standard	NM_001010905		Approved		uc003qbh.4	Q6P5S2	OTTHUMG00000015530	ENST00000329722.7:c.584C>T	6.37:g.127902337C>T	ENSP00000328069:p.Ser195Leu	Somatic		Capture	SOLID	Phase_I	127944030	NM_001010905	B4E1I0|Q5VUP2	Missense_Mutation	SNP	ENST00000329722.7	37	CCDS34533.1	.	.	.	.	.	.	.	.	.	.	C	6.732	0.503763	0.12822	.	.	ENSG00000184530	ENST00000329722	T	0.45276	0.9	3.92	-2.87	0.05700	.	1.298020	0.05126	N	0.491682	T	0.13713	0.0332	L	0.55990	1.75	0.09310	N	1	B	0.16603	0.018	B	0.15052	0.012	T	0.20438	-1.0275	10	0.25106	T	0.35	0.2283	4.4152	0.11452	0.1686:0.2945:0.0:0.5369	.	195	Q6P5S2	CF058_HUMAN	L	195	ENSP00000328069:S195L	ENSP00000328069:S195L	S	+	2	0	C6orf58	127944030	0.000000	0.05858	0.000000	0.03702	0.376000	0.30014	-0.555000	0.05999	-0.420000	0.07427	0.585000	0.79938	TCA		0.323	C6orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042152.1	NM_001010905	
LAMA2	3908	hgsc.bcm.edu	37	6	129785441	129785441	+	Missense_Mutation	SNP	G	G	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:129785441G>T	ENST00000421865.2	+	50	7048	c.6999G>T	c.(6997-6999)caG>caT	p.Q2333H		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2333					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.Q2333H(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCAGTCCTCAGGTGGAAGATA	0.428																																					p.Q2333H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6999T	6						.						187.0	155.0	166.0					6																	129785441		2203	4300	6503	129827134	SO:0001583	missense	3908	exon50			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.6999G>T	6.37:g.129785441G>T	ENSP00000400365:p.Gln2333His	Somatic		Capture	SOLID	Phase_I	129827134	NM_001079823	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.840076	0.71488	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.34275	1.37	5.87	4.99	0.66335	.	0.098513	0.64402	D	0.000001	T	0.40222	0.1108	L	0.52573	1.65	0.58432	D	0.999992	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.99	T	0.29852	-0.9998	9	.	.	.	.	11.2509	0.49026	0.1482:0.0:0.8518:0.0	.	2334;2333	A6NF00;P24043	.;LAMA2_HUMAN	H	2333;2332;2333;351	ENSP00000400365:Q2333H	.	Q	+	3	2	LAMA2	129827134	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.332000	0.65911	1.448000	0.47680	0.655000	0.94253	CAG		0.428	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		
LATS1	9113	hgsc.bcm.edu	37	6	150001494	150001494	+	Missense_Mutation	SNP	T	T	C	rs140832020		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:150001494T>C	ENST00000543571.1	-	5	2657	c.2110A>G	c.(2110-2112)Atg>Gtg	p.M704V	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.M704V	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1									p.M704V(1)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TTCACAAACATAGACTTGTCC	0.373																																					p.M704V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2110G	6						.	T	VAL/MET	0,4406		0,0,2203	95.0	102.0	100.0		2110	5.6	1.0	6	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	missense	LATS1	NM_004690.2	21	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging	704/1131	150001494	1,13005	2203	4300	6503	150043187	SO:0001583	missense	9113	exon5			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.2110A>G	6.37:g.150001494T>C	ENSP00000437550:p.Met704Val	Somatic		Capture	SOLID	Phase_I	150043187	NM_004690		Missense_Mutation	SNP	ENST00000543571.1	37	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	T	16.98	3.272277	0.59649	0.0	1.16E-4	ENSG00000131023	ENST00000543571;ENST00000253339	T;T	0.07567	3.18;3.18	5.64	5.64	0.86602	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000001	T	0.02610	0.0079	N	0.20986	0.625	0.80722	D	1	P	0.42649	0.786	B	0.34590	0.186	T	0.56214	-0.8016	9	.	.	.	.	16.1449	0.81559	0.0:0.0:0.0:1.0	.	704	O95835	LATS1_HUMAN	V	704	ENSP00000437550:M704V;ENSP00000253339:M704V	.	M	-	1	0	LATS1	150043187	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.655000	0.83696	2.269000	0.75478	0.455000	0.32223	ATG		0.373	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690	
LATS1	9113	hgsc.bcm.edu	37	6	150005219	150005219	+	Missense_Mutation	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:150005219T>C	ENST00000543571.1	-	4	1553	c.1006A>G	c.(1006-1008)Agc>Ggc	p.S336G	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.S336G|LATS1_ENST00000392273.3_Missense_Mutation_p.S336G	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1									p.S336G(1)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TTAAATTTGCTAGAACTCTGC	0.448																																					p.S336G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1006G	6						.						157.0	151.0	153.0					6																	150005219		2203	4300	6503	150046912	SO:0001583	missense	9113	exon4			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.1006A>G	6.37:g.150005219T>C	ENSP00000437550:p.Ser336Gly	Somatic		Capture	SOLID	Phase_I	150046912	NM_004690		Missense_Mutation	SNP	ENST00000543571.1	37	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	T	10.25	1.299571	0.23650	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273	T;T;T	0.53857	0.6;0.6;3.17	5.39	5.39	0.77823	.	0.178535	0.39146	N	0.001447	T	0.17959	0.0431	N	0.08118	0	0.37650	D	0.922372	B;B;B	0.17268	0.012;0.021;0.012	B;B;B	0.23852	0.014;0.049;0.011	T	0.09530	-1.0670	9	.	.	.	.	15.3916	0.74747	0.0:0.0:0.0:1.0	.	188;336;336	Q59FN4;O95835-2;O95835	.;.;LATS1_HUMAN	G	336	ENSP00000437550:S336G;ENSP00000253339:S336G;ENSP00000444678:S336G	.	S	-	1	0	LATS1	150046912	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.318000	0.79029	2.050000	0.60909	0.533000	0.62120	AGC		0.448	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690	
AKAP12	9590	hgsc.bcm.edu	37	6	151674459	151674459	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:151674459G>A	ENST00000253332.1	+	3	5122	c.4933G>A	c.(4933-4935)Gag>Aag	p.E1645K	AKAP12_ENST00000359755.5_Missense_Mutation_p.E1540K|AKAP12_ENST00000402676.2_Missense_Mutation_p.E1645K|AKAP12_ENST00000354675.6_Missense_Mutation_p.E1547K			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1645					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)	p.E1645K(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CATGACTGTTGAGGTAGAAGG	0.488																																					p.E1645K	Melanoma(141;1616 1805 10049 24534 51979)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4933A	6						.						113.0	103.0	106.0					6																	151674459		2203	4300	6503	151716152	SO:0001583	missense	9590	exon4			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.4933G>A	6.37:g.151674459G>A	ENSP00000253332:p.Glu1645Lys	Somatic		Capture	SOLID	Phase_I	151716152	NM_005100	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.215037	0.39102	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.07444	3.19;3.19;3.19;3.19	5.01	3.16	0.36331	.	0.224096	0.22773	N	0.055801	T	0.01940	0.0061	L	0.27053	0.805	0.09310	N	1	P;P;P	0.38677	0.642;0.642;0.51	B;B;B	0.35278	0.199;0.199;0.098	T	0.43442	-0.9391	10	0.40728	T	0.16	.	8.4472	0.32849	0.1979:0.0:0.802:0.0	.	1540;1547;1645	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	K	1645;1645;1547;1540	ENSP00000384537:E1645K;ENSP00000253332:E1645K;ENSP00000346702:E1547K;ENSP00000352794:E1540K	ENSP00000253332:E1645K	E	+	1	0	AKAP12	151716152	0.065000	0.20965	0.009000	0.14445	0.016000	0.09150	1.535000	0.36061	1.207000	0.43291	0.650000	0.86243	GAG		0.488	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1		
SYNE1	23345	hgsc.bcm.edu	37	6	152527408	152527408	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:152527408G>A	ENST00000367255.5	-	126	23515	c.22914C>T	c.(22912-22914)ggC>ggT	p.G7638G	SYNE1_ENST00000423061.1_Silent_p.G7567G|SYNE1_ENST00000448038.1_Silent_p.G7567G|SYNE1_ENST00000356820.4_Silent_p.G2162G|SYNE1_ENST00000265368.4_Silent_p.G7638G|SYNE1_ENST00000341594.5_Silent_p.G7250G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7638					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.G7638G(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CGGCCTCAGCGCCACTGTCCG	0.517										HNSCC(10;0.0054)																											p.G2162G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C6486T	6						.						72.0	67.0	69.0					6																	152527408		2203	4300	6503	152569101	SO:0001819	synonymous_variant	23345	exon41			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.22914C>T	6.37:g.152527408G>A		Somatic		Capture	SOLID	Phase_I	152569101	NM_015293	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	CCDS5236.2																																																																																				0.517	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	hgsc.bcm.edu	37	6	152639286	152639286	+	Missense_Mutation	SNP	A	A	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:152639286A>T	ENST00000367255.5	-	86	17103	c.16502T>A	c.(16501-16503)aTa>aAa	p.I5501K	SYNE1_ENST00000423061.1_Missense_Mutation_p.I5430K|SYNE1_ENST00000448038.1_Missense_Mutation_p.I5430K|SYNE1_ENST00000356820.4_Missense_Mutation_p.I25K|SYNE1_ENST00000265368.4_Missense_Mutation_p.I5501K|SYNE1_ENST00000341594.5_Intron	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5501					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.I5501K(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAGTTTTCCTATCTTCTTGGC	0.443										HNSCC(10;0.0054)																											p.I25K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T74A	6						.						243.0	213.0	224.0					6																	152639286		2203	4300	6503	152680979	SO:0001583	missense	23345	exon1			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.16502T>A	6.37:g.152639286A>T	ENSP00000356224:p.Ile5501Lys	Somatic		Capture	SOLID	Phase_I	152680979	NM_015293	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	A	18.75	3.691037	0.68271	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000356820	T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24	5.66	5.66	0.87406	.	0.249150	0.34555	N	0.003872	T	0.49098	0.1537	M	0.66939	2.045	0.58432	D	0.999998	D;D;D;D	0.71674	0.998;0.99;0.99;0.994	D;P;P;P	0.65140	0.932;0.644;0.644;0.869	T	0.54748	-0.8247	10	0.87932	D	0	.	15.8861	0.79251	1.0:0.0:0.0:0.0	.	5501;5501;5501;5430	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	K	5501;5430;5501;5430;25	ENSP00000356224:I5501K;ENSP00000396024:I5430K;ENSP00000265368:I5501K;ENSP00000390975:I5430K;ENSP00000349276:I25K	ENSP00000265368:I5501K	I	-	2	0	SYNE1	152680979	0.991000	0.36638	0.998000	0.56505	0.370000	0.29829	6.627000	0.74258	2.156000	0.67533	0.533000	0.62120	ATA		0.443	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	hgsc.bcm.edu	37	6	152823837	152823837	+	Silent	SNP	G	G	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:152823837G>T	ENST00000367255.5	-	10	1420	c.819C>A	c.(817-819)acC>acA	p.T273T	SYNE1_ENST00000423061.1_Silent_p.T280T|SYNE1_ENST00000448038.1_Silent_p.T280T|SYNE1_ENST00000367253.4_Silent_p.T273T|SYNE1_ENST00000367248.3_Silent_p.T280T|SYNE1_ENST00000466159.2_Silent_p.T273T|SYNE1_ENST00000265368.4_Silent_p.T273T|SYNE1_ENST00000413186.2_Silent_p.T273T|SYNE1_ENST00000341594.5_Silent_p.T273T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	273	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.T273T(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGGCTACATAGGTCATAATAG	0.348										HNSCC(10;0.0054)																											p.T280T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C840A	6						.						157.0	140.0	146.0					6																	152823837		2203	4300	6503	152865530	SO:0001819	synonymous_variant	23345	exon10			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.819C>A	6.37:g.152823837G>T		Somatic		Capture	SOLID	Phase_I	152865530	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	CCDS5236.2																																																																																				0.348	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
TIAM2	26230	hgsc.bcm.edu	37	6	155503422	155503422	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:155503422G>A	ENST00000461783.3	+	15	4043	c.2770G>A	c.(2770-2772)Gtt>Att	p.V924I	TIAM2_ENST00000456877.2_Missense_Mutation_p.V236I|TIAM2_ENST00000529824.2_Missense_Mutation_p.V924I|TIAM2_ENST00000456144.1_Missense_Mutation_p.V924I|TIAM2_ENST00000367174.2_Missense_Mutation_p.V300I|TIAM2_ENST00000318981.5_Missense_Mutation_p.V924I|TIAM2_ENST00000360366.4_Missense_Mutation_p.V948I|TIAM2_ENST00000528391.2_Missense_Mutation_p.V260I			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	924	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V924I(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TATAAGCGACGTTCTTCCCGA	0.507																																					p.V924I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2770A	6						.						203.0	185.0	191.0					6																	155503422		2203	4300	6503	155545114	SO:0001583	missense	26230	exon12				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.2770G>A	6.37:g.155503422G>A	ENSP00000437188:p.Val924Ile	Somatic		Capture	SOLID	Phase_I	155545114	NM_012454	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867381	0.72065	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391	T;T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.86	5.86	0.93980	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.53546	0.1803	L	0.48935	1.535	0.44570	D	0.997532	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.981;0.997;0.997;0.999	T	0.50474	-0.8824	10	0.62326	D	0.03	.	18.7433	0.91782	0.0:0.0:1.0:0.0	.	260;924;948;924	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	I	924;1170;924;924;924;300;948;924;236;260	ENSP00000437188:V924I;ENSP00000434901:V924I;ENSP00000407746:V924I;ENSP00000327315:V924I;ENSP00000356142:V300I;ENSP00000353528:V948I;ENSP00000433348:V924I;ENSP00000407183:V236I;ENSP00000435335:V260I	ENSP00000327315:V924I	V	+	1	0	TIAM2	155545114	1.000000	0.71417	0.210000	0.23637	0.183000	0.23260	6.245000	0.72398	2.937000	0.99478	0.650000	0.86243	GTT		0.507	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454	
ARID1B	57492	hgsc.bcm.edu	37	6	157527507	157527507	+	Silent	SNP	C	C	T	rs368980689		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:157527507C>T	ENST00000350026.5	+	19	5194	c.5193C>T	c.(5191-5193)gaC>gaT	p.D1731D	ARID1B_ENST00000275248.4_Silent_p.D1726D|ARID1B_ENST00000367148.1_Silent_p.D1784D|ARID1B_ENST00000346085.5_Silent_p.D1744D	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1731					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		ACGAGGAAGACGAGGAGGATG	0.537																																					p.D1731D												.	.	0			c.C5193T	6						.	C	,	0,4406		0,0,2203	120.0	122.0	121.0		5193,5232	-2.9	0.9	6		121	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous,coding-synonymous	ARID1B	NM_017519.2,NM_020732.3	,	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	,	1731/2237,1744/2250	157527507	1,12997	2203	4296	6499	157569199	SO:0001819	synonymous_variant	57492	exon19			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.5193C>T	6.37:g.157527507C>T		Somatic		Capture	SOLID	Phase_I	157569199	NM_017519	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	37	CCDS5251.2																																																																																				0.537	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732	
TULP4	56995	hgsc.bcm.edu	37	6	158834176	158834176	+	Missense_Mutation	SNP	A	A	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:158834176A>C	ENST00000367097.3	+	2	1689	c.332A>C	c.(331-333)cAg>cCg	p.Q111P	TULP4_ENST00000367094.2_Missense_Mutation_p.Q111P	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	111					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q111P(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GTGTGGATTCAGTACGAGGGC	0.607																																					p.Q111P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A332C	6						.						148.0	122.0	131.0					6																	158834176		2203	4300	6503	158754164	SO:0001583	missense	56995	exon2				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.332A>C	6.37:g.158834176A>C	ENSP00000356064:p.Gln111Pro	Somatic		Capture	SOLID	Phase_I	158754164	NM_001007466	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.579750	0.86645	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	T;T	0.16073	2.37;2.37	6.02	6.02	0.97574	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.16981	0.0408	N	0.22421	0.69	0.80722	D	1	D;D;D	0.67145	0.985;0.984;0.996	P;D;D	0.72982	0.541;0.964;0.979	T	0.12553	-1.0543	10	0.22109	T	0.4	-30.4749	16.2061	0.82131	1.0:0.0:0.0:0.0	.	111;111;111	B4E202;Q9NRJ4-2;Q9NRJ4	.;.;TULP4_HUMAN	P	111	ENSP00000356064:Q111P;ENSP00000356061:Q111P	ENSP00000356061:Q111P	Q	+	2	0	TULP4	158754164	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.933000	0.75874	2.311000	0.77944	0.533000	0.62120	CAG		0.607	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245	
MAP3K4	4216	hgsc.bcm.edu	37	6	161533727	161533727	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:161533727G>A	ENST00000392142.4	+	25	4695	c.4547G>A	c.(4546-4548)cGt>cAt	p.R1516H	MAP3K4_ENST00000366919.2_Missense_Mutation_p.R1466H|MAP3K4_ENST00000366920.2_Missense_Mutation_p.R1512H|MAP3K4_ENST00000348824.7_Missense_Mutation_p.R1462H	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1516	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.R1515H(1)|p.R1516H(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GTCATCACTCGTGCCAAAGGA	0.488																																					p.R1466H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4397A	6						.						132.0	129.0	130.0					6																	161533727		2203	4300	6503	161453717	SO:0001583	missense	4216	exon24			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.4547G>A	6.37:g.161533727G>A	ENSP00000375986:p.Arg1516His	Somatic		Capture	SOLID	Phase_I	161453717	NM_006724	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	G	34	5.300536	0.95601	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.72282	-0.6;-0.63;-0.64;-0.6	5.56	5.56	0.83823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.63838	0.2545	N	0.25031	0.7	0.44702	D	0.997693	P;P;D;D	0.71674	0.699;0.587;0.994;0.998	B;B;P;P	0.61201	0.193;0.115;0.742;0.885	T	0.67624	-0.5623	10	0.46703	T	0.11	-17.7876	12.8186	0.57679	0.0744:0.0:0.9256:0.0	.	1512;452;1466;1516	F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4	.;.;.;M3K4_HUMAN	H	1466;1516;1466;1512;1462	ENSP00000355886:R1466H;ENSP00000375986:R1516H;ENSP00000355887:R1512H;ENSP00000297332:R1462H	ENSP00000297332:R1462H	R	+	2	0	MAP3K4	161453717	1.000000	0.71417	0.011000	0.14972	0.979000	0.70002	7.878000	0.87231	2.613000	0.88420	0.655000	0.94253	CGT		0.488	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3		
SERPINB1	1992	hgsc.bcm.edu	37	6	2836181	2836181	+	Missense_Mutation	SNP	C	C	T	rs144562805		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:2836181C>T	ENST00000380739.5	-	6	846	c.644G>A	c.(643-645)cGt>cAt	p.R215H	SERPINB1_ENST00000476896.1_5'Flank|SERPINB1_ENST00000537185.1_Missense_Mutation_p.R64H	NM_030666.3	NP_109591.1	P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	215					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R215H(1)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		TTCCAGCACACGGCACTTAAG	0.463																																					p.R215H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G644A	6						.	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	91.0	86.0	88.0		644	0.2	0.0	6	dbSNP_134	88	0,8600		0,0,4300	no	missense	SERPINB1	NM_030666.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	215/380	2836181	1,13005	2203	4300	6503	2781180	SO:0001583	missense	1992	exon6			M93056	CCDS4477.1	6p25.2	2014-02-18	2005-08-18		ENSG00000021355	ENSG00000021355		"""Serine (or cysteine) peptidase inhibitors"""	3311	protein-coding gene	gene with protein product		130135	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 1"""	ELANH2		1376927, 24172014	Standard	NM_030666		Approved	EI, PI2, anti-elastase	uc003mub.4	P30740	OTTHUMG00000014124	ENST00000380739.5:c.644G>A	6.37:g.2836181C>T	ENSP00000370115:p.Arg215His	Somatic		Capture	SOLID	Phase_I	2781180	NM_030666	A8K5L2|B4DNT0|Q53FB9|Q5W0E1|Q9UDF8	Missense_Mutation	SNP	ENST00000380739.5	37	CCDS4477.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.441609	0.25900	2.27E-4	0.0	ENSG00000021355	ENST00000380739;ENST00000542771;ENST00000537185	D;D	0.85013	-1.93;-1.93	5.12	0.172	0.15031	Serpin domain (3);	0.359052	0.29783	N	0.011217	T	0.55513	0.1925	N	0.17922	0.545	0.09310	N	1	B	0.27013	0.166	B	0.21917	0.037	T	0.53287	-0.8460	10	0.62326	D	0.03	.	9.9067	0.41381	0.0:0.5469:0.0:0.4531	.	215	P30740	ILEU_HUMAN	H	215;177;64	ENSP00000370115:R215H;ENSP00000444543:R64H	ENSP00000370115:R215H	R	-	2	0	SERPINB1	2781180	0.000000	0.05858	0.003000	0.11579	0.505000	0.33919	0.511000	0.22739	0.026000	0.15269	-0.140000	0.14226	CGT		0.463	SERPINB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039637.1		
SERPINB9	5272	hgsc.bcm.edu	37	6	2892099	2892099	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:2892099G>A	ENST00000380698.4	-	6	780	c.691C>T	c.(691-693)Ctg>Ttg	p.L231L		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	231					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L231L(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				TCAGGCAGCAGCACCAGCAGG	0.657																																					p.L231L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C691T	6						.						61.0	61.0	61.0					6																	2892099		2203	4300	6503	2837098	SO:0001819	synonymous_variant	5272	exon6			L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"""Serine (or cysteine) peptidase inhibitors"""	8955	protein-coding gene	gene with protein product		601799	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"""	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.691C>T	6.37:g.2892099G>A		Somatic		Capture	SOLID	Phase_I	2837098	NM_004155	B2RBW3|Q5TD03	Silent	SNP	ENST00000380698.4	37	CCDS4478.1																																																																																				0.657	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039656.1		
FARS2	10667	hgsc.bcm.edu	37	6	5613419	5613419	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:5613419G>A	ENST00000324331.6	+	6	1419	c.1083G>A	c.(1081-1083)ccG>ccA	p.P361P	FARS2_ENST00000274680.4_Silent_p.P361P			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	361	FDX-ACB. {ECO:0000255|PROSITE- ProRule:PRU00778}.			P -> T (in Ref. 7; AAF28998). {ECO:0000305}.	gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)	p.P361P(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	GCAAATATCCGGCTGTGATCA	0.353																																					p.P361P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1083A	6						.						134.0	126.0	129.0					6																	5613419		2203	4300	6503	5558418	SO:0001819	synonymous_variant	10667	exon6			AF097441	CCDS4494.1	6p25.1	2011-07-01	2007-02-23	2004-12-03	ENSG00000145982	ENSG00000145982	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	21062	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 2, mitochondrial"""	611592	"""phenylalanine-tRNA synthetase 1 (mitochondrial)"""	FARS1		10329163	Standard	NM_006567		Approved	dJ236A3.1	uc003mwr.2	O95363	OTTHUMG00000014178	ENST00000324331.6:c.1083G>A	6.37:g.5613419G>A		Somatic		Capture	SOLID	Phase_I	5558418	NM_006567	B2R664|Q53F66|Q5TCS3|Q6FG29|Q9NPY7|Q9P062	Silent	SNP	ENST00000324331.6	37	CCDS4494.1																																																																																				0.353	FARS2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467790.1	NM_006567	
ATXN1	6310	hgsc.bcm.edu	37	6	16306992	16306992	+	Silent	SNP	C	C	T	rs138290142		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:16306992C>T	ENST00000244769.4	-	9	2952	c.2016G>A	c.(2014-2016)ccG>ccA	p.P672P	ATXN1_ENST00000436367.1_Silent_p.P672P	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	672	AXH. {ECO:0000255|PROSITE- ProRule:PRU00496}.|Interaction with USP7.|RNA-binding.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)	p.P672P(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GTTTGGAACACGGCAAATCAA	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		17610	0.0		0.001	False		,,,				2504	0.0				p.P672P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2016A	6						.						73.0	78.0	76.0					6																	16306992		2203	4300	6503	16414971	SO:0001819	synonymous_variant	6310	exon9			X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.2016G>A	6.37:g.16306992C>T		Somatic		Capture	SOLID	Phase_I	16414971	NM_000332	Q17S02|Q9UJG2|Q9Y4J1	Silent	SNP	ENST00000244769.4	37	CCDS34342.1																																																																																				0.522	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332	
KDM1B	221656	hgsc.bcm.edu	37	6	18161655	18161655	+	Missense_Mutation	SNP	G	G	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:18161655G>C	ENST00000297792.5	+	4	362	c.185G>C	c.(184-186)tGt>tCt	p.C62S	KDM1B_ENST00000388870.2_Missense_Mutation_p.C62S|KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000397244.1_Missense_Mutation_p.C62S			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	62					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)	p.C62S(1)		breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						ACGGCAACATGTCCTGTGTGC	0.453																																					p.C62S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G185C	6						.						265.0	210.0	228.0					6																	18161655		2203	4300	6503	18269634	SO:0001583	missense	221656	exon4			AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"""Chromatin-modifying enzymes / K-demethylases"""	21577	protein-coding gene	gene with protein product		613081	"""amine oxidase, flavin containing 1"", ""chromosome 6 open reading frame 193"", ""amine oxidase (flavin containing) domain 1"""	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.185G>C	6.37:g.18161655G>C	ENSP00000297792:p.Cys62Ser	Somatic		Capture	SOLID	Phase_I	18269634	NM_153042	A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Missense_Mutation	SNP	ENST00000297792.5	37	CCDS34343.1	.	.	.	.	.	.	.	.	.	.	G	9.294	1.051371	0.19827	.	.	ENSG00000165097	ENST00000388870;ENST00000397244;ENST00000297792;ENST00000388869	T;T;T	0.29655	1.59;1.56;1.57	5.78	3.99	0.46301	.	0.160345	0.56097	D	0.000025	T	0.10981	0.0268	L	0.44542	1.39	0.80722	D	1	B	0.27559	0.181	B	0.26310	0.068	T	0.05599	-1.0875	10	0.15066	T	0.55	-5.9154	11.8533	0.52423	0.1426:0.0:0.8574:0.0	.	62	A2A2C6	.	S	62	ENSP00000373522:C62S;ENSP00000380419:C62S;ENSP00000297792:C62S	ENSP00000297792:C62S	C	+	2	0	KDM1B	18269634	1.000000	0.71417	0.728000	0.30774	0.726000	0.41606	3.574000	0.53863	0.772000	0.33382	-0.244000	0.11960	TGT		0.453	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	NM_153042	
E2F3	1871	hgsc.bcm.edu	37	6	20490512	20490512	+	Missense_Mutation	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:20490512A>G	ENST00000346618.3	+	7	1315	c.1249A>G	c.(1249-1251)Aac>Gac	p.N417D	E2F3_ENST00000535432.1_Missense_Mutation_p.N286D	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	417	Transactivation. {ECO:0000255}.				mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N417D(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			AATTCCTTCCAACCTAGAAGG	0.532																																					p.N417D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1249G	6						.						61.0	58.0	59.0					6																	20490512		2203	4300	6503	20598491	SO:0001583	missense	1871	exon7			Y10479	CCDS4545.1, CCDS58999.1	6p22	2008-08-29			ENSG00000112242	ENSG00000112242			3115	protein-coding gene	gene with protein product		600427				8246996	Standard	NM_001949		Approved		uc003nda.2	O00716	OTTHUMG00000016389	ENST00000346618.3:c.1249A>G	6.37:g.20490512A>G	ENSP00000262904:p.Asn417Asp	Somatic		Capture	SOLID	Phase_I	20598491	NM_001949	Q15000|Q68DT0|Q9BZ44	Missense_Mutation	SNP	ENST00000346618.3	37	CCDS4545.1	.	.	.	.	.	.	.	.	.	.	.	12.91	2.079181	0.36662	.	.	ENSG00000112242	ENST00000346618;ENST00000535432	T;T	0.05925	3.38;3.37	5.49	5.49	0.81192	.	0.164157	0.53938	D	0.000045	T	0.01870	0.0059	N	0.24115	0.695	0.44175	D	0.996984	B	0.10296	0.003	B	0.06405	0.002	T	0.40515	-0.9559	10	0.09843	T	0.71	.	15.888	0.79269	1.0:0.0:0.0:0.0	.	417	O00716	E2F3_HUMAN	D	417;286	ENSP00000262904:N417D;ENSP00000443418:N286D	ENSP00000262904:N417D	N	+	1	0	E2F3	20598491	0.613000	0.27009	1.000000	0.80357	0.982000	0.71751	1.079000	0.30766	2.216000	0.71823	0.459000	0.35465	AAC		0.532	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043828.1		
GPLD1	2822	hgsc.bcm.edu	37	6	24437388	24437388	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:24437388C>T	ENST00000230036.1	-	21	2260	c.2150G>A	c.(2149-2151)cGa>cAa	p.R717Q		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	717					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)	p.R717Q(2)		breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GCCACCAAATCGGGAGAAGCG	0.572																																					p.R717Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2150A	6						.						108.0	97.0	101.0					6																	24437388		2203	4300	6503	24545367	SO:0001583	missense	2822	exon21			L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.2150G>A	6.37:g.24437388C>T	ENSP00000230036:p.Arg717Gln	Somatic		Capture	SOLID	Phase_I	24545367	NM_001503	Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP	ENST00000230036.1	37	CCDS4553.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336492	0.60963	.	.	ENSG00000112293	ENST00000230036	T	0.73681	-0.77	4.69	3.82	0.43975	.	0.103103	0.42548	D	0.000695	T	0.79281	0.4419	M	0.84846	2.72	0.33389	D	0.575862	D	0.89917	1.0	P	0.62491	0.903	T	0.79834	-0.1636	10	0.41790	T	0.15	-15.3974	10.9809	0.47494	0.0:0.9122:0.0:0.0878	.	717	P80108	PHLD_HUMAN	Q	717	ENSP00000230036:R717Q	ENSP00000230036:R717Q	R	-	2	0	GPLD1	24545367	0.958000	0.32768	0.011000	0.14972	0.522000	0.34438	2.889000	0.48601	1.328000	0.45358	0.563000	0.77884	CGA		0.572	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503	
ALDH5A1	7915	hgsc.bcm.edu	37	6	24520643	24520643	+	Silent	SNP	C	C	T	rs367554353		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:24520643C>T	ENST00000357578.3	+	6	1030	c.885C>T	c.(883-885)caC>caT	p.H295H	ALDH5A1_ENST00000491546.1_Silent_p.H267H|ALDH5A1_ENST00000348925.2_Silent_p.H308H|ALDH5A1_ENST00000546278.1_Silent_p.H207H	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	295					acetate metabolic process (GO:0006083)|central nervous system development (GO:0007417)|galactosylceramide metabolic process (GO:0006681)|gamma-aminobutyric acid catabolic process (GO:0009450)|glucose metabolic process (GO:0006006)|glucosylceramide metabolic process (GO:0006678)|glutamate metabolic process (GO:0006536)|glutamine metabolic process (GO:0006541)|glutathione metabolic process (GO:0006749)|glycerophospholipid metabolic process (GO:0006650)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|respiratory electron transport chain (GO:0022904)|short-chain fatty acid metabolic process (GO:0046459)|succinate metabolic process (GO:0006105)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	protein homodimerization activity (GO:0042803)|succinate-semialdehyde dehydrogenase (NAD+) activity (GO:0004777)|succinate-semialdehyde dehydrogenase [NAD(P)+] activity (GO:0009013)	p.H308H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313)	TGTTGCACCACGCAGCAAACT	0.478																																					p.H308H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C924T	6						.	C	,	0,4406		0,0,2203	130.0	140.0	137.0		885,924	-11.0	0.0	6		137	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ALDH5A1	NM_001080.3,NM_170740.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	295/536,308/549	24520643	1,13005	2203	4300	6503	24628622	SO:0001819	synonymous_variant	7915	exon7			L34820	CCDS4555.1, CCDS4556.1	6p22	2013-06-03	2008-07-31		ENSG00000112294	ENSG00000112294	1.2.1.24	"""Aldehyde dehydrogenases"""	408	protein-coding gene	gene with protein product	"""succinate-semialdehyde dehydrogenase"""	610045				7814412, 9059628	Standard	NM_001080		Approved	SSADH, SSDH	uc003nef.3	P51649	OTTHUMG00000014356	ENST00000357578.3:c.885C>T	6.37:g.24520643C>T		Somatic		Capture	SOLID	Phase_I	24628622	NM_170740	B2RD26|G5E949|Q546H9|Q8N3W6	Silent	SNP	ENST00000357578.3	37	CCDS4555.1																																																																																				0.478	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040007.2		
HIST1H4B	8366	hgsc.bcm.edu	37	6	26027344	26027344	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:26027344C>T	ENST00000377364.3	-	1	136	c.137G>A	c.(136-138)cGa>cAa	p.R46Q		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	46					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.R46Q(1)		large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						ACCGGAAATTCGCTTAACCCC	0.572																																					p.R46Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G137A	6						.						77.0	69.0	72.0					6																	26027344		2203	4300	6503	26135323	SO:0001583	missense	8366	exon1			X67081	CCDS4572.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124529	ENSG00000278705		"""Histones / Replication-dependent"""	4789	protein-coding gene	gene with protein product		602829	"""H4 histone family, member I"", ""histone 1, H4b"""	H4FI		9119399, 12408966	Standard	NM_003544		Approved	H4/I	uc003nfr.3	P62805	OTTHUMG00000014417	ENST00000377364.3:c.137G>A	6.37:g.26027344C>T	ENSP00000366581:p.Arg46Gln	Somatic		Capture	SOLID	Phase_I	26135323	NM_003544	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000377364.3	37	CCDS4572.1	.	.	.	.	.	.	.	.	.	.	c	22.1	4.241449	0.79912	.	.	ENSG00000124529	ENST00000377364	T	0.75367	-0.93	4.65	4.65	0.58169	.	0.000000	0.56097	U	0.000040	T	0.81721	0.4882	.	.	.	0.44117	D	0.996897	.	.	.	.	.	.	D	0.84239	0.0471	7	0.87932	D	0	.	17.4106	0.87484	0.0:1.0:0.0:0.0	.	.	.	.	Q	46	ENSP00000366581:R46Q	ENSP00000366581:R46Q	R	-	2	0	HIST1H4B	26135323	1.000000	0.71417	0.993000	0.49108	0.001000	0.01503	7.309000	0.78937	2.506000	0.84524	0.563000	0.77884	CGA		0.572	HIST1H4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040079.2	NM_003544	
HIST1H4D	8360	hgsc.bcm.edu	37	6	26189089	26189089	+	Silent	SNP	G	G	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:26189089G>T	ENST00000340756.2	-	1	215	c.216C>A	c.(214-216)acC>acA	p.T72T		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	72					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.T72T(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				GTTCCGTGTAGGTGACAGCAT	0.562																																					p.T72T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C216A	6						.						137.0	118.0	125.0					6																	26189089		2203	4300	6503	26297068	SO:0001819	synonymous_variant	8360	exon1			X60482	CCDS4589.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000188987	ENSG00000277157		"""Histones / Replication-dependent"""	4782	protein-coding gene	gene with protein product		602823	"""H4 histone family, member B"", ""histone 1, H4d"""	H4FB		9119399, 12408966	Standard	NM_003539		Approved	H4/b	uc003ngu.3	P62805	OTTHUMG00000014423	ENST00000340756.2:c.216C>A	6.37:g.26189089G>T		Somatic		Capture	SOLID	Phase_I	26297068	NM_003539	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000340756.2	37	CCDS4589.1																																																																																				0.562	HIST1H4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040085.1	NM_003539	
GABBR1	2550	hgsc.bcm.edu	37	6	29598258	29598258	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:29598258C>T	ENST00000377034.4	-	4	787	c.452G>A	c.(451-453)aGc>aAc	p.S151N	GABBR1_ENST00000377016.4_Intron|GABBR1_ENST00000377012.4_5'Flank|GABBR1_ENST00000355973.3_5'Flank|GABBR1_ENST00000376977.3_Missense_Mutation_p.S151N	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	151	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)	p.S151N(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	CTTGGGGGTGCTCCACTGGCC	0.632																																					p.S151N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G452A	6						.						47.0	51.0	50.0					6																	29598258		1510	2707	4217	29706237	SO:0001583	missense	2550	exon4			Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.452G>A	6.37:g.29598258C>T	ENSP00000366233:p.Ser151Asn	Somatic		Capture	SOLID	Phase_I	29706237	NM_001470	B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	ENST00000377034.4	37	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.246159	0.22796	.	.	ENSG00000204681	ENST00000376977;ENST00000377034;ENST00000462632	T;T;T	0.67865	-0.29;-0.29;-0.29	4.73	2.58	0.30949	Complement control module (2);Sushi/SCR/CCP (3);	0.276491	0.32459	N	0.006062	T	0.32224	0.0822	L	0.37850	1.14	0.24520	N	0.994165	B;B	0.22983	0.078;0.037	B;B	0.25614	0.025;0.062	T	0.20472	-1.0274	10	0.54805	T	0.06	-12.2954	4.5085	0.11899	0.0:0.6374:0.0:0.3626	.	151;151	Q9UBS5-5;Q9UBS5	.;GABR1_HUMAN	N	151	ENSP00000366176:S151N;ENSP00000366233:S151N;ENSP00000419755:S151N	ENSP00000366176:S151N	S	-	2	0	GABBR1	29706237	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.459000	0.21908	0.935000	0.37341	0.561000	0.74099	AGC		0.632	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3		
HLA-G	3135	hgsc.bcm.edu	37	6	29797675	29797675	+	Silent	SNP	G	G	T	rs564772039		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:29797675G>T	ENST00000360323.6	+	5	1002	c.978G>T	c.(976-978)gcG>gcT	p.A326A	HLA-G_ENST00000428701.1_Silent_p.A326A|HLA-G_ENST00000376815.3_Silent_p.A142A|HLA-G_ENST00000376818.3_Silent_p.A234A|HLA-G_ENST00000376828.2_Silent_p.A331A			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	326					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)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.A326A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						CTGGAGCTGCGGTCGCTGCTG	0.567																																					p.A326A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G978T	6						.						93.0	81.0	85.0					6																	29797675		2203	4300	6503	29905654	SO:0001819	synonymous_variant	3135	exon6				CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4964	protein-coding gene	gene with protein product	"""b2 microglobulin"""	142871	"""HLA-G histocompatibility antigen, class I, G"""				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.978G>T	6.37:g.29797675G>T		Somatic		Capture	SOLID	Phase_I	29905654	NM_002127		Silent	SNP	ENST00000360323.6	37	CCDS4668.1																																																																																				0.567	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	NM_002127	
TRIM39	56658	hgsc.bcm.edu	37	6	30297399	30297399	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:30297399G>A	ENST00000396547.1	+	2	465	c.305G>A	c.(304-306)cGg>cAg	p.R102Q	TRIM39_ENST00000376656.4_Missense_Mutation_p.R102Q|TRIM39_ENST00000540416.1_Missense_Mutation_p.R102Q|TRIM39_ENST00000376659.5_Missense_Mutation_p.R102Q|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.R14Q|TRIM39_ENST00000396548.1_Missense_Mutation_p.R102Q|TRIM39_ENST00000396551.3_Missense_Mutation_p.R102Q|HCG18_ENST00000412685.2_RNA|HCG18_ENST00000426882.1_RNA|HCG18_ENST00000413358.2_RNA			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	102					apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R102Q(1)		ovary(3)	3						CGGAAGATCCGGGATGAGAGC	0.552																																					p.R102Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G305A	6						.						53.0	51.0	52.0					6																	30297399		1510	2707	4217	30405378	SO:0001583	missense	56658	exon1			BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10065	protein-coding gene	gene with protein product		605700	"""ring finger protein 23"", ""tripartite motif-containing 39"""	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.305G>A	6.37:g.30297399G>A	ENSP00000379796:p.Arg102Gln	Somatic		Capture	SOLID	Phase_I	30405378	NM_001199119	Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Missense_Mutation	SNP	ENST00000396547.1	37	CCDS34377.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.03|18.03	3.531827|3.531827	0.64972|0.64972	.|.	.|.	ENSG00000204599|ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000204599;ENSG00000248167	ENST00000420746|ENST00000458516;ENST00000396551;ENST00000376656;ENST00000545104;ENST00000540416;ENST00000449040;ENST00000412529;ENST00000428728;ENST00000396548;ENST00000376659;ENST00000396547;ENST00000513556	.|T;T;T;T;T;T;T;T;T	.|0.56776	.|0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44	5.23|5.23	2.41|2.41	0.29592|0.29592	.|Zinc finger, B-box (2);	.|0.000000	.|0.43260	.|D	.|0.000582	T|T	0.17492|0.17492	0.0420|0.0420	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;D;B	.|0.64830	.|0.009;0.994;0.414	.|B;P;B	.|0.59171	.|0.002;0.853;0.069	T|T	0.23261|0.23261	-1.0193|-1.0193	5|10	.|0.05959	.|T	.|0.93	.|.	4.9614|4.9614	0.14068|0.14068	0.178:0.0:0.6539:0.1681|0.178:0.0:0.6539:0.1681	.|.	.|16;102;102	.|F5H2V3;Q9HCM9;Q9HCM9-2	.|.;TRI39_HUMAN;.	R|Q	32|102;102;102;102;102;102;16;102;102;102;102;14	.|ENSP00000405928:R102Q;ENSP00000379800:R102Q;ENSP00000365844:R102Q;ENSP00000439400:R102Q;ENSP00000406019:R102Q;ENSP00000379797:R102Q;ENSP00000365847:R102Q;ENSP00000379796:R102Q;ENSP00000424048:R14Q	.|ENSP00000365844:R102Q	G|R	+|+	1|2	0|0	TRIM39|TRIM39-RPP21;TRIM39	30405378|30405378	1.000000|1.000000	0.71417|0.71417	0.727000|0.727000	0.30756|0.30756	0.930000|0.930000	0.56654|0.56654	1.887000|1.887000	0.39698|0.39698	0.768000|0.768000	0.33290|0.33290	0.555000|0.555000	0.69702|0.69702	GGG|CGG		0.552	TRIM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076086.2	NM_172016	
HSPA1L	3305	hgsc.bcm.edu	37	6	31778333	31778333	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:31778333C>T	ENST00000375654.4	-	2	1606	c.1417G>A	c.(1417-1419)Gtt>Att	p.V473I	HSPA1L_ENST00000417199.3_Missense_Mutation_p.V473I	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	473					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)	p.V473I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						ATCTGAGGAACTCCCCTGGGT	0.547																																					p.V473I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1417A	6						.						111.0	103.0	106.0					6																	31778333		2203	4300	6503	31886312	SO:0001583	missense	3305	exon2			D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.1417G>A	6.37:g.31778333C>T	ENSP00000364805:p.Val473Ile	Somatic		Capture	SOLID	Phase_I	31886312	NM_005527	A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.280898	0.40394	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653	T;T	0.01076	5.37;5.37	5.2	2.48	0.30137	.	0.305926	0.18056	N	0.153090	T	0.02304	0.0071	M	0.72479	2.2	0.45777	D	0.998667	D	0.55172	0.97	D	0.75020	0.985	T	0.49283	-0.8956	10	0.87932	D	0	-12.5777	8.4223	0.32707	0.0:0.7443:0.0:0.2557	.	473	P34931	HS71L_HUMAN	I	473;473;418	ENSP00000364805:V473I;ENSP00000387691:V473I	ENSP00000364804:V418I	V	-	1	0	HSPA1L	31886312	0.998000	0.40836	0.794000	0.32065	0.978000	0.69477	3.964000	0.56780	0.360000	0.24265	-0.237000	0.12165	GTT		0.547	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2		
TNXB	7148	hgsc.bcm.edu	37	6	32010272	32010272	+	Missense_Mutation	SNP	T	T	A	rs17421133	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:32010272T>A	ENST00000375244.3	-	40	12371	c.12170A>T	c.(12169-12171)aAc>aTc	p.N4057I	TNXB_ENST00000375247.2_Missense_Mutation_p.N4055I|TNXB_ENST00000451343.1_Missense_Mutation_p.N486I			P22105	TENX_HUMAN	tenascin XB	4102	Fibronectin type-III 32. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCAAAACACGTTCAGGGGCCG	0.667													T|||	1087	0.217053	0.0212	0.3761	5008	,	,		19961	0.2202		0.34	False		,,,				2504	0.2393				p.N486I												.	.	0			c.A1457T	6						.	T	ILE/ASN,ILE/ASN	228,2794		17,194,1300	52.0	46.0	48.0		12164,1457	3.3	0.8	6	dbSNP_131	48	1707,3711		266,1175,1268	no	missense,missense	TNXB	NM_019105.6,NM_032470.3	149,149	283,1369,2568	AA,AT,TT		31.5061,7.5447,22.9265	possibly-damaging,possibly-damaging	4055/4243,486/674	32010272	1935,6505	1511	2709	4220	32118251	SO:0001583	missense	7148	exon9			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.12170A>T	6.37:g.32010272T>A	ENSP00000364393:p.Asn4057Ile	Somatic		Capture	SOLID	Phase_I	32118251	NM_032470	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37		566	0.2591575091575092	17	0.034552845528455285	146	0.40331491712707185	132	0.23076923076923078	271	0.3575197889182058	t	14.60	2.582663	0.46006	0.075447	0.315061	ENSG00000168477	ENST00000375244;ENST00000451343;ENST00000375247	T;T;T	0.77229	-1.08;-1.08;-1.08	4.45	3.29	0.37713	.	0.834350	0.10489	N	0.668630	T	0.65933	0.2739	L	0.37561	1.115	0.80722	P	0.0	D	0.61080	0.989	P	0.57371	0.819	T	0.59804	-0.7385	9	0.54805	T	0.06	.	4.5535	0.12126	0.1704:0.0936:0.0:0.736	rs17421133;rs28361046;rs17421133	4055	P22105-3	.	I	4057;486;4055	ENSP00000364393:N4057I;ENSP00000407685:N486I;ENSP00000364396:N4055I	ENSP00000364393:N4057I	N	-	2	0	TNXB	32118251	0.000000	0.05858	0.797000	0.32132	0.994000	0.84299	0.054000	0.14205	0.764000	0.33197	0.456000	0.33151	AAC		0.667	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105	
FKBPL	63943	hgsc.bcm.edu	37	6	32097421	32097421	+	Missense_Mutation	SNP	G	G	C	rs35580488	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:32097421G>C	ENST00000375156.3	-	2	407	c.137C>G	c.(136-138)aCg>aGg	p.T46R	ATF6B_ENST00000375203.3_5'Flank|ATF6B_ENST00000375201.4_5'Flank|ATF6B_ENST00000468502.1_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	46					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)										CAGCTCAAGCGTTTCGGTAGG	0.498													G|||	25	0.00499201	0.0	0.0144	5008	,	,		18151	0.0		0.0149	False		,,,				2504	0.0				p.T46R												.	.	0			c.C137G	6						.	G	ARG/THR	10,4396	15.5+/-35.6	0,10,2193	87.0	90.0	89.0		137	1.8	0.3	6	dbSNP_126	89	105,8495	58.3+/-119.8	2,101,4197	yes	missense	FKBPL	NM_022110.3	71	2,111,6390	CC,CG,GG		1.2209,0.227,0.8842	benign	46/350	32097421	115,12891	2203	4300	6503	32205399	SO:0001583	missense	63943	exon2			AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"""Tetratricopeptide (TTC) repeat domain containing"""	13949	protein-coding gene	gene with protein product	"""WAF-1/CIP1 stabilizing protein 39"""		"""FK506-binding protein like"""			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.137C>G	6.37:g.32097421G>C	ENSP00000364298:p.Thr46Arg	Somatic		Capture	SOLID	Phase_I	32205399	NM_022110	A8K5V3|B0UYX8|Q9H5G3	Missense_Mutation	SNP	ENST00000375156.3	37	CCDS4738.1	12	0.005494505494505495	0	0.0	2	0.0055248618784530384	0	0.0	10	0.013192612137203167	G	9.343	1.063553	0.20067	0.00227	0.012209	ENSG00000204315	ENST00000375156	T	0.80566	-1.39	4.89	1.78	0.24846	.	3.888980	0.00508	N	0.000172	T	0.38401	0.1039	N	0.08118	0	0.09310	N	1	B	0.29716	0.255	B	0.30943	0.122	T	0.41556	-0.9502	10	0.19590	T	0.45	1.9859	2.8799	0.05644	0.3312:0.2403:0.4286:0.0	rs35580488	46	Q9UIM3	FKBPL_HUMAN	R	46	ENSP00000364298:T46R	ENSP00000364298:T46R	T	-	2	0	FKBPL	32205399	0.000000	0.05858	0.340000	0.25575	0.289000	0.27227	-0.134000	0.10436	0.136000	0.18733	0.462000	0.41574	ACG		0.498	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076221.2		
HLA-DRA	3122	hgsc.bcm.edu	37	6	32411551	32411551	+	Missense_Mutation	SNP	C	C	A	rs58547911	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:32411551C>A	ENST00000374982.5	+	4	627	c.554C>A	c.(553-555)cCt>cAt	p.P185H	HLA-DRA_ENST00000395388.2_Missense_Mutation_p.P210H			P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	210	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002504)|cognition (GO:0050890)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|polysaccharide assembly with MHC class II protein complex (GO:0002506)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)	p.P210H(1)		NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						GCTCCAAGCCCTCTCCCAGAG	0.488									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of																												p.P210H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C629A	6						.						185.0	200.0	195.0					6																	32411551		1511	2709	4220	32519529	SO:0001583	missense	3122	exon4	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;		CCDS4750.1	6p21.3	2013-01-11			ENSG00000204287	ENSG00000204287		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4947	protein-coding gene	gene with protein product		142860		HLA-DRA1			Standard	NM_019111		Approved		uc003obh.3	P01903	OTTHUMG00000031269	ENST00000374982.5:c.554C>A	6.37:g.32411551C>A	ENSP00000364121:p.Pro185His	Somatic		Capture	SOLID	Phase_I	32519529	NM_019111	A2BET4|Q30160|Q6IAZ1|Q861I2|Q9TP70	Missense_Mutation	SNP	ENST00000374982.5	37		.	.	.	.	.	.	.	.	.	.	.	11.49	1.655737	0.29425	.	.	ENSG00000204287	ENST00000395388;ENST00000374982	T;T	0.02085	4.46;4.72	5.35	4.47	0.54385	Immunoglobulin-like fold (1);	0.589252	0.18111	N	0.151355	T	0.05914	0.0154	M	0.89214	3.015	0.18873	N	0.999984	D;P	0.71674	0.998;0.916	P;P	0.61201	0.885;0.779	T	0.20571	-1.0271	10	0.87932	D	0	.	9.0352	0.36282	0.0:0.8997:0.0:0.1003	.	185;210	Q30118;P01903	.;DRA_HUMAN	H	210;185	ENSP00000378786:P210H;ENSP00000364121:P185H	ENSP00000364121:P185H	P	+	2	0	HLA-DRA	32519529	0.030000	0.19436	0.142000	0.22268	0.101000	0.19017	1.988000	0.40697	1.467000	0.48044	0.567000	0.79289	CCT		0.488	HLA-DRA-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000076587.3	NM_019111	
TAP1	6890	hgsc.bcm.edu	37	6	32821021	32821021	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:32821021C>T	ENST00000354258.4	-	1	734	c.573G>A	c.(571-573)ctG>ctA	p.L191L	PSMB9_ENST00000374859.2_5'Flank|PSMB9_ENST00000395330.1_Intron|PSMB9_ENST00000453265.2_5'Flank|TAP1_ENST00000425148.2_5'Flank	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	191					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|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 peptide antigen via MHC class I (GO:0002474)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)	p.L191L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	TTCCCCAGTGCAGTAGCCTGG	0.657																																					p.L191L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G573A	6						.						23.0	18.0	20.0					6																	32821021		1510	2707	4217	32928999	SO:0001819	synonymous_variant	6890	exon1				CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"""ATP binding cassette transporters / subfamily B"""	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.573G>A	6.37:g.32821021C>T		Somatic		Capture	SOLID	Phase_I	32928999	NM_000593	Q16149|Q96CP4	Silent	SNP	ENST00000354258.4	37	CCDS4758.1																																																																																				0.657	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	NM_000593	
HLA-DPB1	3115	hgsc.bcm.edu	37	6	33048461	33048461	+	Missense_Mutation	SNP	T	T	A	rs1126509|rs386699868	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:33048461T>A	ENST00000418931.2	+	2	229	c.113T>A	c.(112-114)tTc>tAc	p.F38Y	HLA-DPB1_ENST00000471184.1_3'UTR|HLA-DPB1_ENST00000535465.1_Missense_Mutation_p.F38Y|HLA-DPA1_ENST00000419277.1_5'UTR	NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	38	Beta-1.		F -> D (in allele DPB1*70:01; requires 2 nucleotide substitutions).|F -> H (in allele DPB1*09:01, allele DPB1*10:01, allele DPB1*14:01, allele DPB1*16:02, allele DPB1*17:01, allele DPB1*22:02, allele DPB1*30:01, allele DPB1*35:01, allele DPB1*45:01, allele DPB1*54:01, allele DPB1*55:01, allele DPB1*58:01, allele DPB1*66:01, allele DPB1*67:01, allele DPB1*76:01, allele DPB1*86:01, allele DPB1*91:01 and allele DPB1*98:01; requires 2 nucleotide substitutions).|F -> L (in dbSNP:rs12722013).|F -> Y (in allele DPB1*01:01, allele DPB1*03:01, allele DPB1*05:02, allele DPB1*06:01, allele DPB1*09:02, allele DPB1*11:01, allele DPB1*11:02, allele DPB1*13:01, allele DPB1*13:02, allele DPB1*14:02, allele DPB1*15:01, allele DPB1*17:02, allele DPB1*18:01, allele DPB1*20:02, allele DPB1*21:01, allele DPB1*21:02, allele DPB1*20:01, allele DPB1*25:01, allele DPB1*25:02, allele DPB1*26:01, allele DPB1*27:01, allele DPB1*29:01, allele DPB1*36:01, allele DPB1*37:01, allele DPB1*44:01, allele DPB1*50:01, allele DPB1*52:01, allele DPB1*56:01, allele DPB1*69:01, allele DPB1*74:01, allele DPB1*78:01, allele DPB1*79:01, allele DPB1*85:01, allele DPB1*87:01, allele DPB1*88:01, allele DPB1*89:01, allele DPB1*90:01, allele DPB1*92:01 and allele DPB1*93:01; dbSNP:rs1126509).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	peptide antigen binding (GO:0042605)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						AATTACCTTTTCCAGGGACGG	0.552													.|||	1999	0.399161	0.6641	0.3357	5008	,	,		15143	0.2351		0.2992	False		,,,				2504	0.3579				p.Y38Y												.	.	0			c.A113A	6						.	A	,,TYR/PHE	1572,1444		521,530,457	46.0	52.0	50.0		,,113	-6.8	0.0	6	dbSNP_86	50	925,4479		180,565,1957	no	utr-5,utr-5,missense	HLA-DPA1,HLA-DPB1	NM_001242524.1,NM_001242525.1,NM_002121.5	,,22	701,1095,2414	AA,AT,TT		17.117,47.878,29.6556	,,benign	,,38/259	33048461	2497,5923	1508	2702	4210	33156439	SO:0001583	missense	3115	exon2				CCDS4765.1	6p21.3	2013-01-11			ENSG00000223865	ENSG00000223865		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4940	protein-coding gene	gene with protein product		142858		HLA-DP1B			Standard	NM_002121		Approved		uc003ocu.2	P04440	OTTHUMG00000031076	ENST00000418931.2:c.113T>A	6.37:g.33048461T>A	ENSP00000408146:p.Phe38Tyr	Somatic		Capture	SOLID	Phase_I	33156439	NM_002121	A0PFJ7|A5I886|A8YPB3|B5U8B4|B7VF80|B7VF87|B8ZX68|B8ZYT0|B9W5S8|B9W6F7|B9W6F9|C0MPP5|C0MPQ2|C0MPQ3|C0MPQ5|C0MPQ6|C0MPQ7|C4R9J5|C5IZL1|O00259|O19698|O19700|O19702|O19749|O46884|O77952|O98215|O98216|O98217|O98218|O98219|O98222|O98223|P01916|P04232|P13763|P79493|P79608|Q0P0L4|Q0ZFN3|Q14279|Q27S71|Q29682|Q29684|Q29698|Q29714|Q29775|Q29776|Q29778|Q29779|Q29781|Q29827|Q29828|Q29879|Q29880|Q29898|Q29977|Q2MGW3|Q30015|Q30031|Q30032|Q30033|Q30034|Q30050|Q30051|Q30052|Q30053|Q30054|Q30055|Q30174|Q4GY31|Q4JHD8|Q5ENE0|Q5ENE1|Q5ENW3|Q5EP46|Q5EP47|Q5EP49|Q5EP51|Q5EP52|Q5EP53|Q5EP56|Q5I4H8|Q5I4H9|Q5ISH4|Q5ISH5|Q5SQ73|Q5STP2|Q5YLA6|Q6IVX1|Q6LBX2|Q6LBX3|Q6LBX4|Q6LBX5|Q6LBX6|Q6LBX7|Q6PWX6|Q6TAS4|Q714U1|Q714U2|Q7YQ10|Q860Z7|Q8HWL7|Q8HWT5|Q8SNC4|Q95HC1|Q95IT7|Q95IT8|Q9BD13|Q9GIM2|Q9GIM4|Q9GIX6|Q9GJ41|Q9MY67|Q9TNT7|Q9TQE2|Q9XS11|Q9XS12	Missense_Mutation	SNP	ENST00000418931.2	37	CCDS4765.1	709|709	0.32463369963369965|0.32463369963369965	301|301	0.6117886178861789|0.6117886178861789	97|97	0.26795580110497236|0.26795580110497236	114|114	0.1993006993006993|0.1993006993006993	197|197	0.2598944591029024|0.2598944591029024	A|A	0.251|0.251	-1.006668|-1.006668	0.02112|0.02112	0.52122|0.52122	0.17117|0.17117	ENSG00000223865|ENSG00000223865	ENST00000418931;ENST00000535465;ENST00000411942|ENST00000416804	T;T|.	0.02579|.	4.24;4.24|.	3.4|3.4	-6.79|-6.79	0.01715|0.01715	MHC class II, alpha/beta chain, N-terminal (1);MHC classes I/II-like antigen recognition protein (1);|.	0.702565|.	0.11117|.	N|.	0.597882|.	T|T	0.02649|0.02649	0.0080|0.0080	N|N	0.02345|0.02345	-0.59|-0.59	0.80722|0.80722	P|P	0.0|0.0	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.20706|0.20706	-1.0267|-1.0267	9|4	0.02654|.	T|.	1|.	.|.	8.1577|8.1577	0.31178|0.31178	0.241:0.0:0.0883:0.6708|0.241:0.0:0.0883:0.6708	rs1126509;rs3176936;rs3181578;rs9277345;rs17214706;rs17418788|rs1126509;rs3176936;rs3181578;rs9277345;rs17214706;rs17418788	48;38|.	Q59GY1;P04440|.	.;DPB1_HUMAN|.	Y|T	38|5	ENSP00000408146:F38Y;ENSP00000439674:F38Y|.	ENSP00000389210:F38Y|.	F|S	+|+	2|1	0|0	HLA-DPB1|HLA-DPB1	33156439|33156439	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-3.263000|-3.263000	0.00535|0.00535	-3.679000|-3.679000	0.00122|0.00122	-4.666000|-4.666000	0.00003|0.00003	TTC|TCC		0.552	HLA-DPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076106.2	NM_002121	
COL11A2	1302	hgsc.bcm.edu	37	6	33133708	33133708	+	Splice_Site	SNP	C	C	T	rs142586242		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:33133708C>T	ENST00000374708.4	-	60	4482	c.4224G>A	c.(4222-4224)ccG>ccA	p.P1408P	COL11A2_ENST00000395197.1_Splice_Site_p.P1434P|COL11A2_ENST00000357486.1_Splice_Site_p.P1473P|COL11A2_ENST00000374712.1_Splice_Site_p.P1413P|COL11A2_ENST00000374713.1_Splice_Site_p.P1447P|COL11A2_ENST00000341947.2_Splice_Site_p.P1494P|COL11A2_ENST00000374714.1_Splice_Site_p.P1468P|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000361917.1_Splice_Site_p.P1387P	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1494	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.P1494P(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCTCACTCACCGGGTGTCCTG	0.607																																					p.P1408P	Melanoma(1;90 116 3946 5341 17093)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4224A	6						.						38.0	37.0	37.0					6																	33133708		2203	4299	6502	33241686	SO:0001630	splice_region_variant	1302	exon60			U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.4224+1G>A	6.37:g.33133708C>T		Somatic		Capture	SOLID	Phase_I	33241686	NM_080681	A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Silent	SNP	ENST00000374708.4	37	CCDS43452.1																																																																																				0.607	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2		Silent
TREM2	54209	hgsc.bcm.edu	37	6	41129309	41129309	+	Missense_Mutation	SNP	G	G	A	rs2234252	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:41129309G>A	ENST00000373113.3	-	2	176	c.83C>T	c.(82-84)gCg>gTg	p.A28V	TREM2_ENST00000373122.4_Missense_Mutation_p.A28V|TREM2_ENST00000338469.3_Missense_Mutation_p.A28V	NM_018965.2	NP_061838.1	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	28					axon guidance (GO:0007411)|dendritic cell differentiation (GO:0097028)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|positive regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002588)|positive regulation of C-C chemokine receptor CCR7 signaling pathway (GO:1903082)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of CD40 signaling pathway (GO:2000350)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein localization to plasma membrane (GO:1903078)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)	p.A28V(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGACTGGCCCGCCACGCCCTG	0.597													G|||	2	0.000399361	0.0	0.0029	5008	,	,		18591	0.0		0.0	False		,,,				2504	0.0				p.A28V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C83T	6						.	G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	34.0	33.0	33.0		83	-3.7	0.0	6	dbSNP_98	33	1,8599		0,1,4299	yes	missense	TREM2	NM_018965.2	64	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	28/231	41129309	2,13004	2203	4300	6503	41237287	SO:0001583	missense	54209	exon2			AF213457	CCDS4852.1, CCDS64422.1	6p21.1	2014-09-17	2002-08-15		ENSG00000095970	ENSG00000095970		"""Immunoglobulin superfamily / V-set domain containing"""	17761	protein-coding gene	gene with protein product		605086	"""triggering receptor expressed on myeloid cells 2a"""			10799849, 12080485	Standard	NM_001271821		Approved	TREM-2, Trem2a, Trem2b, Trem2c	uc003opy.3	Q9NZC2	OTTHUMG00000014671	ENST00000373113.3:c.83C>T	6.37:g.41129309G>A	ENSP00000362205:p.Ala28Val	Somatic		Capture	SOLID	Phase_I	41237287	NM_018965	Q8N5H8|Q8WYN6	Missense_Mutation	SNP	ENST00000373113.3	37	CCDS4852.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.919134	0.00498	2.27E-4	1.16E-4	ENSG00000095970	ENST00000373113;ENST00000338469;ENST00000373122	T;T;T	0.64085	-0.08;-0.08;-0.08	5.51	-3.71	0.04424	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.874787	0.10045	N	0.722958	T	0.10809	0.0264	N	0.12637	0.245	0.09310	N	1	B;B;P	0.35468	0.414;0.414;0.503	B;B;B	0.27500	0.031;0.031;0.08	T	0.29912	-0.9996	10	0.02654	T	1	-3.5563	8.6747	0.34172	0.1381:0.0:0.278:0.5839	rs2234252	28;28;28	Q9NZC2-2;Q9NZC2-3;Q9NZC2	.;.;TREM2_HUMAN	V	28	ENSP00000362205:A28V;ENSP00000342651:A28V;ENSP00000362214:A28V	ENSP00000342651:A28V	A	-	2	0	TREM2	41237287	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.466000	0.06672	-0.858000	0.04110	-1.367000	0.01198	GCG		0.597	TREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040499.1	NM_018965	
TFEB	7942	hgsc.bcm.edu	37	6	41654896	41654896	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:41654896G>A	ENST00000230323.4	-	8	1040	c.739C>T	c.(739-741)Cga>Tga	p.R247*	TFEB_ENST00000358871.2_Nonsense_Mutation_p.R261*|TFEB_ENST00000420312.1_Nonsense_Mutation_p.R162*|TFEB_ENST00000373033.1_Nonsense_Mutation_p.R247*|TFEB_ENST00000394283.1_Nonsense_Mutation_p.R247*|TFEB_ENST00000403298.4_Nonsense_Mutation_p.R247*	NM_001271945.1|NM_007162.2	NP_001258874.1|NP_009093.1	P19484	TFEB_HUMAN	transcription factor EB	247	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				autophagy (GO:0006914)|embryonic placenta development (GO:0001892)|humoral immune response (GO:0006959)|lysosome organization (GO:0007040)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R247*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TTGAACCTTCGTCTCCTTTCA	0.552			T	ALPHA	renal (childhood epithelioid)																																p.R247X			Dom	yes		6	6p21	7942	transcription factor EB		"""E,M"""	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C739T	6						.						119.0	100.0	106.0					6																	41654896		2203	4300	6503	41762874	SO:0001587	stop_gained	7942	exon8			M33782	CCDS4858.1, CCDS64424.1, CCDS64425.1	6p21	2013-05-21			ENSG00000112561	ENSG00000112561		"""Basic helix-loop-helix proteins"""	11753	protein-coding gene	gene with protein product		600744				2115126	Standard	NM_007162		Approved	TCFEB, bHLHe35	uc003oqu.2	P19484	OTTHUMG00000014684	ENST00000230323.4:c.739C>T	6.37:g.41654896G>A	ENSP00000230323:p.Arg247*	Somatic		Capture	SOLID	Phase_I	41762874	NM_007162	Q709B3|Q7Z6P9|Q9BRJ5|Q9UJD8	Nonsense_Mutation	SNP	ENST00000230323.4	37	CCDS4858.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988803	0.93106	.	.	ENSG00000112561	ENST00000406563;ENST00000343317;ENST00000230323;ENST00000358871;ENST00000403298;ENST00000420312;ENST00000373033;ENST00000394283;ENST00000419396	.	.	.	4.85	1.65	0.23941	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.953	13.2337	0.59957	0.0:0.0:0.6153:0.3847	.	.	.	.	X	105;333;247;261;247;162;247;247;247	.	ENSP00000230323:R247X	R	-	1	2	TFEB	41762874	0.951000	0.32395	0.998000	0.56505	0.984000	0.73092	1.403000	0.34612	1.011000	0.39340	0.563000	0.77884	CGA		0.552	TFEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040522.3		
TRERF1	55809	hgsc.bcm.edu	37	6	42222594	42222594	+	Missense_Mutation	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:42222594T>C	ENST00000372922.4	-	13	3213	c.2651A>G	c.(2650-2652)tAt>tGt	p.Y884C	TRERF1_ENST00000372917.4_Missense_Mutation_p.Y801C|TRERF1_ENST00000541110.1_Missense_Mutation_p.Y904C|TRERF1_ENST00000354325.2_Missense_Mutation_p.Y801C|TRERF1_ENST00000340840.2_Missense_Mutation_p.Y801C	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	884	Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.Y884C(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCTACCGGCATAGTGGTAATT	0.507																																					p.Y884C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2651G	6						.						91.0	84.0	86.0					6																	42222594		2203	4300	6503	42330572	SO:0001583	missense	55809	exon13			AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.2651A>G	6.37:g.42222594T>C	ENSP00000362013:p.Tyr884Cys	Somatic		Capture	SOLID	Phase_I	42330572	NM_033502	Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.576286	0.86645	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.15139	2.51;2.45;2.52;2.45;2.46	5.39	5.39	0.77823	Homeodomain-like (1);	0.000000	0.53938	D	0.000056	T	0.30916	0.0780	M	0.64080	1.96	0.80722	D	1	D;D;D;D;P	0.89917	1.0;1.0;1.0;1.0;0.926	D;D;D;D;D	0.91635	0.999;0.998;0.998;0.999;0.951	T	0.04360	-1.0957	10	0.62326	D	0.03	-9.894	15.7017	0.77547	0.0:0.0:0.0:1.0	.	801;904;884;640;640	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	C	904;801;884;801;801	ENSP00000439689:Y904C;ENSP00000362008:Y801C;ENSP00000362013:Y884C;ENSP00000339438:Y801C;ENSP00000346285:Y801C	ENSP00000339438:Y801C	Y	-	2	0	TRERF1	42330572	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.724000	0.74747	2.173000	0.68751	0.533000	0.62120	TAT		0.507	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502	
TRERF1	55809	hgsc.bcm.edu	37	6	42236837	42236837	+	Missense_Mutation	SNP	C	C	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:42236837C>A	ENST00000372922.4	-	5	1054	c.492G>T	c.(490-492)caG>caT	p.Q164H	TRERF1_ENST00000372917.4_Missense_Mutation_p.Q164H|TRERF1_ENST00000541110.1_Missense_Mutation_p.Q164H|TRERF1_ENST00000354325.2_Missense_Mutation_p.Q164H|TRERF1_ENST00000340840.2_Missense_Mutation_p.Q164H	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	164					cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.Q164H(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGTGCAGCACCTGGGCCATAT	0.572																																					p.Q164H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G492T	6						.						124.0	128.0	127.0					6																	42236837		2203	4300	6503	42344815	SO:0001583	missense	55809	exon5			AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.492G>T	6.37:g.42236837C>A	ENSP00000362013:p.Gln164His	Somatic		Capture	SOLID	Phase_I	42344815	NM_033502	Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652413	0.67472	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.25749	2.15;1.78;2.03;1.78;1.79	5.39	5.39	0.77823	.	0.000000	0.56097	D	0.000031	T	0.34716	0.0907	L	0.34521	1.04	0.53688	D	0.999975	D;D;D;D;D	0.76494	0.999;0.994;0.994;0.997;0.997	D;D;D;D;D	0.87578	0.998;0.984;0.984;0.987;0.987	T	0.20240	-1.0281	10	0.87932	D	0	-17.3417	19.1535	0.93499	0.0:1.0:0.0:0.0	.	164;164;164;3;3	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	H	164	ENSP00000439689:Q164H;ENSP00000362008:Q164H;ENSP00000362013:Q164H;ENSP00000339438:Q164H;ENSP00000346285:Q164H	ENSP00000339438:Q164H	Q	-	3	2	TRERF1	42344815	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.045000	0.71020	2.537000	0.85549	0.462000	0.41574	CAG		0.572	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502	
CUL7	9820	hgsc.bcm.edu	37	6	43013766	43013766	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:43013766G>A	ENST00000265348.3	-	13	2809	c.2724C>T	c.(2722-2724)tgC>tgT	p.C908C	CUL7_ENST00000535468.1_Silent_p.C992C|CUL7_ENST00000478630.1_5'UTR			Q14999	CUL7_HUMAN	cullin 7	908	DOC. {ECO:0000255|PROSITE- ProRule:PRU00614}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.C908C(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TATCACCCCCGCACACCACCA	0.567																																					p.C908C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2724T	6						.						76.0	65.0	69.0					6																	43013766		2203	4300	6503	43121744	SO:0001819	synonymous_variant	9820	exon13			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.2724C>T	6.37:g.43013766G>A		Somatic		Capture	SOLID	Phase_I	43121744	NM_014780	B4DYZ0|F5H0L1|Q5T654	Silent	SNP	ENST00000265348.3	37	CCDS4881.1																																																																																				0.567	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780	
KLC4	89953	hgsc.bcm.edu	37	6	43029113	43029113	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:43029113G>A	ENST00000394056.2	+	3	535	c.40G>A	c.(40-42)Ggc>Agc	p.G14S	MRPL2_ENST00000468957.1_5'Flank|KLC4_ENST00000453940.2_Missense_Mutation_p.G14S|MRPL2_ENST00000489623.1_5'Flank|KLC4_ENST00000479388.1_Missense_Mutation_p.G14S|MRPL2_ENST00000388752.3_5'Flank|KLC4_ENST00000347162.5_Missense_Mutation_p.G14S|MRPL2_ENST00000230413.5_5'Flank|KLC4_ENST00000394058.1_Missense_Mutation_p.G14S|MRPL2_ENST00000487429.1_5'Flank|KLC4_ENST00000458460.2_Missense_Mutation_p.G14S|KLC4_ENST00000259708.3_Missense_Mutation_p.G32S			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	14						cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)	p.G14S(1)		endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			TGAGCCTGCAGGCCACCGGCT	0.627																																					p.G14S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G40A	6						.						43.0	45.0	44.0					6																	43029113		2203	4300	6503	43137091	SO:0001583	missense	89953	exon2			AK055293	CCDS4882.1, CCDS4883.1, CCDS47429.1, CCDS75459.1	6p21.1	2013-01-10	2005-09-13	2005-09-13	ENSG00000137171	ENSG00000137171		"""Tetratricopeptide (TTC) repeat domain containing"""	21624	protein-coding gene	gene with protein product			"""kinesin-like 8"""	KNSL8			Standard	NM_001289034		Approved	bA387M24.3	uc003otw.1	Q9NSK0	OTTHUMG00000014720	ENST00000394056.2:c.40G>A	6.37:g.43029113G>A	ENSP00000377620:p.Gly14Ser	Somatic		Capture	SOLID	Phase_I	43137091	NM_201521	B3KNY4|B3KPI3|B3KSQ3|B4DME9|Q66K28|Q96EG6	Missense_Mutation	SNP	ENST00000394056.2	37	CCDS4883.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.720348	0.48728	.	.	ENSG00000137171	ENST00000347162;ENST00000453940;ENST00000470728;ENST00000458460;ENST00000259708;ENST00000479388;ENST00000472792;ENST00000460283;ENST00000394056;ENST00000394058;ENST00000481888	T;T;T;T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.11	5.11	0.69529	.	0.277119	0.25366	N	0.031190	T	0.14570	0.0352	N	0.19112	0.55	0.33414	D	0.57901	B;B;B;B	0.29301	0.034;0.241;0.034;0.18	B;B;B;B	0.26969	0.011;0.075;0.011;0.052	T	0.07888	-1.0749	10	0.27785	T	0.31	-11.5089	14.0381	0.64658	0.0:0.0:1.0:0.0	.	14;32;14;14	B4DME9;Q9NSK0-3;Q9NSK0;Q96EG6	.;.;KLC4_HUMAN;.	S	14;14;14;14;32;14;14;14;14;14;14	ENSP00000340221:G14S;ENSP00000395806:G14S;ENSP00000417652:G14S;ENSP00000410358:G14S;ENSP00000259708:G32S;ENSP00000418031:G14S;ENSP00000419102:G14S;ENSP00000420144:G14S;ENSP00000377620:G14S;ENSP00000377622:G14S;ENSP00000419634:G14S	ENSP00000259708:G32S	G	+	1	0	KLC4	43137091	.	.	0.999000	0.59377	0.887000	0.51463	.	.	2.392000	0.81423	0.561000	0.74099	GGC		0.627	KLC4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040579.2	NM_138343	
CUL9	23113	hgsc.bcm.edu	37	6	43172149	43172150	+	Frame_Shift_Del	DEL	AG	AG	-	rs61739506	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	AG	AG	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:43172149_43172150delAG	ENST00000252050.4	+	21	4295_4296	c.4211_4212delAG	c.(4210-4212)cagfs	p.Q1404fs	CUL9_ENST00000372647.2_Frame_Shift_Del_p.Q1404fs|CUL9_ENST00000354495.3_Frame_Shift_Del_p.Q1294fs	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1404					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)	p.E1406fs*35(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TACTTAGAACAGAGAGAGACCT	0.564																																					p.1404_1404del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.4211_4212del	6						.																																			43280128	SO:0001589	frameshift_variant	23113	exon21			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.4211_4212delAG	6.37:g.43172155_43172156delAG	ENSP00000252050:p.Gln1404fs	Somatic		Capture	SOLID	Phase_I	43280127	NM_015089	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Frame_Shift_Del	DEL	ENST00000252050.4	37	CCDS4890.1																																																																																				0.564	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089	
POLR1C	9533	hgsc.bcm.edu	37	6	43484852	43484852	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:43484852C>T	ENST00000372389.3	+	1	93	c.5C>T	c.(4-6)gCg>gTg	p.A2V	YIPF3_ENST00000372422.2_5'Flank|RP3-337H4.9_ENST00000607571.1_RNA|POLR1C_ENST00000304004.3_Missense_Mutation_p.A2V|POLR1C_ENST00000372344.2_Missense_Mutation_p.A2V|YIPF3_ENST00000506469.1_5'Flank	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	2					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.A2V(1)		kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			TTGAAGATGGCGGCTTCTCAG	0.602																																					p.A2V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5T	6						.						102.0	110.0	107.0					6																	43484852		2203	4300	6503	43592830	SO:0001583	missense	9533	exon1			AF008442	CCDS4901.1	6p21.1	2013-01-21			ENSG00000171453	ENSG00000171453		"""RNA polymerase subunits"""	20194	protein-coding gene	gene with protein product		610060				11042152, 12446911	Standard	NM_203290		Approved	RPA40, RPA39, RPA5, RPAC1	uc003ovn.3	O15160	OTTHUMG00000014739	ENST00000372389.3:c.5C>T	6.37:g.43484852C>T	ENSP00000361465:p.Ala2Val	Somatic		Capture	SOLID	Phase_I	43592830	NM_004875	O75395|Q5JTE3	Missense_Mutation	SNP	ENST00000372389.3	37	CCDS4901.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694984	0.68386	.	.	ENSG00000171453	ENST00000372389;ENST00000372344;ENST00000304004	D;D;T	0.83335	-1.68;-1.71;-0.72	5.37	4.51	0.55191	.	0.127483	0.50627	D	0.000103	D	0.82495	0.5049	L	0.40543	1.245	0.58432	D	0.999999	B;D	0.89917	0.035;1.0	B;D	0.78314	0.012;0.991	T	0.82754	-0.0301	10	0.38643	T	0.18	-21.0756	13.7434	0.62862	0.0:0.9248:0.0:0.0752	.	2;2	O15160-2;O15160	.;RPAC1_HUMAN	V	2	ENSP00000361465:A2V;ENSP00000361419:A2V;ENSP00000307212:A2V	ENSP00000307212:A2V	A	+	2	0	POLR1C	43592830	1.000000	0.71417	1.000000	0.80357	0.139000	0.21198	6.258000	0.72487	1.283000	0.44513	-0.259000	0.10710	GCG		0.602	POLR1C-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040652.3	NM_004875	
POLR1C	9533	hgsc.bcm.edu	37	6	43488398	43488398	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:43488398G>A	ENST00000372389.3	+	7	779	c.691G>A	c.(691-693)Gcc>Acc	p.A231T	RP3-337H4.9_ENST00000607571.1_RNA|POLR1C_ENST00000304004.3_Missense_Mutation_p.A231T|POLR1C_ENST00000372344.2_Intron	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	231					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.A231T(1)		kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			AGTGGCAACAGCCAGTTACAG	0.532																																					p.A231T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G691A	6						.						95.0	99.0	98.0					6																	43488398		2203	4300	6503	43596376	SO:0001583	missense	9533	exon7			AF008442	CCDS4901.1	6p21.1	2013-01-21			ENSG00000171453	ENSG00000171453		"""RNA polymerase subunits"""	20194	protein-coding gene	gene with protein product		610060				11042152, 12446911	Standard	NM_203290		Approved	RPA40, RPA39, RPA5, RPAC1	uc003ovn.3	O15160	OTTHUMG00000014739	ENST00000372389.3:c.691G>A	6.37:g.43488398G>A	ENSP00000361465:p.Ala231Thr	Somatic		Capture	SOLID	Phase_I	43596376	NM_004875	O75395|Q5JTE3	Missense_Mutation	SNP	ENST00000372389.3	37	CCDS4901.1	.	.	.	.	.	.	.	.	.	.	G	35	5.511037	0.96386	.	.	ENSG00000171453	ENST00000372389;ENST00000304004	D;T	0.85955	-2.05;-1.07	5.14	5.14	0.70334	DNA-directed RNA polymerase, RpoA/D/Rpb3-type (1);DNA-directed RNA polymerase, dimerisation (1);DNA-directed RNA polymerase, RBP11-like (1);	0.046856	0.85682	D	0.000000	D	0.92264	0.7546	M	0.84683	2.71	0.80722	D	1	D;D	0.71674	0.998;0.995	D;D	0.71414	0.969;0.973	D	0.92629	0.6114	10	0.59425	D	0.04	-19.9731	18.9618	0.92680	0.0:0.0:1.0:0.0	.	231;231	O15160-2;O15160	.;RPAC1_HUMAN	T	231	ENSP00000361465:A231T;ENSP00000307212:A231T	ENSP00000307212:A231T	A	+	1	0	POLR1C	43596376	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.549000	0.98106	2.552000	0.86080	0.591000	0.81541	GCC		0.532	POLR1C-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040652.3	NM_004875	
DST	667	hgsc.bcm.edu	37	6	56484333	56484335	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	TTC	TTC	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:56484333_56484335delTTC	ENST00000370765.6	-	23	4604_4606	c.4497_4499delGAA	c.(4495-4500)aagaat>aat	p.K1499del	DST_ENST00000446842.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	0					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.K1499delK(2)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATGCTGAATATTCTTCTCAGCTA	0.33																																					p.1499_1500del												.	.	2	Deletion - In frame(2)	large_intestine(2)	c.4497_4499del	6						.																																			56592294	SO:0001651	inframe_deletion	667	exon23			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.4497_4499delGAA	6.37:g.56484336_56484338delTTC	ENSP00000359801:p.Lys1499del	Somatic		Capture	SOLID	Phase_I	56592292	NM_001723	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	In_Frame_Del	DEL	ENST00000370765.6	37	CCDS4959.1																																																																																				0.330	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723	
COL9A1	1297	hgsc.bcm.edu	37	6	70991096	70991096	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:70991096G>A	ENST00000357250.6	-	8	1031	c.873C>T	c.(871-873)atC>atT	p.I291I	COL9A1_ENST00000370496.3_Silent_p.I291I|COL9A1_ENST00000489611.1_5'Flank|COL9A1_ENST00000320755.7_Silent_p.I48I|COL9A1_ENST00000370499.4_Silent_p.I48I	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	291	Collagen-like 1.|Triple-helical region (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)	p.I291I(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						AACTTACGTCGATGCCATCGA	0.562																																					p.I291I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C873T	6						.						27.0	30.0	29.0					6																	70991096		2203	4300	6503	71047817	SO:0001819	synonymous_variant	1297	exon8				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.873C>T	6.37:g.70991096G>A		Somatic		Capture	SOLID	Phase_I	71047817	NM_001851	Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Silent	SNP	ENST00000357250.6	37	CCDS4971.1																																																																																				0.562	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2		
KCNQ5	56479	hgsc.bcm.edu	37	6	73332255	73332255	+	Missense_Mutation	SNP	A	A	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:73332255A>C	ENST00000370398.1	+	1	447	c.338A>C	c.(337-339)aAc>aCc	p.N113T	KCNQ5_ENST00000355194.4_Missense_Mutation_p.N113T|KCNQ5_ENST00000355635.3_Missense_Mutation_p.N113T|KCNQ5_ENST00000402622.2_Missense_Mutation_p.N113T|KCNQ5_ENST00000403813.2_Missense_Mutation_p.N113T|KCNQ5_ENST00000370392.1_Missense_Mutation_p.N113T|KCNQ5_ENST00000414165.2_Missense_Mutation_p.N113T|KCNQ5_ENST00000342056.2_Missense_Mutation_p.N113T	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	113					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)	p.N113T(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	CGGGTGCAGAACTACCTGTAC	0.662																																					p.N113T	GBM(142;1375 1859 14391 23261 44706)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A338C	6						.						23.0	25.0	24.0					6																	73332255		2201	4300	6501	73388976	SO:0001583	missense	56479	exon1			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.338A>C	6.37:g.73332255A>C	ENSP00000359425:p.Asn113Thr	Somatic		Capture	SOLID	Phase_I	73388976	NM_001160133	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	A	10.56	1.385722	0.25031	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D;D	0.99311	-5.6;-5.57;-5.57;-5.48;-5.59;-5.57;-5.6;-5.73	4.45	4.45	0.53987	.	0.262866	0.27447	N	0.019323	D	0.97433	0.9160	N	0.25426	0.745	0.44439	D	0.997364	B;P;B;B;P;P	0.45768	0.113;0.562;0.404;0.336;0.866;0.83	B;B;B;B;P;P	0.52031	0.159;0.439;0.186;0.257;0.688;0.646	D	0.97261	0.9904	10	0.28530	T	0.3	-9.9846	13.7317	0.62792	1.0:0.0:0.0:0.0	.	113;113;113;113;113;113	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82;Q9NR82-4	.;.;.;.;KCNQ5_HUMAN;.	T	113	ENSP00000345055:N113T;ENSP00000347326:N113T;ENSP00000359425:N113T;ENSP00000359419:N113T;ENSP00000385501:N113T;ENSP00000347853:N113T;ENSP00000384453:N113T;ENSP00000409861:N113T	ENSP00000345055:N113T	N	+	2	0	KCNQ5	73388976	1.000000	0.71417	0.993000	0.49108	0.038000	0.13279	4.718000	0.61930	1.647000	0.50633	0.459000	0.35465	AAC		0.662	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842	
IMPG1	3617	hgsc.bcm.edu	37	6	76715190	76715190	+	Missense_Mutation	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:76715190T>C	ENST00000369950.3	-	10	1138	c.949A>G	c.(949-951)Agc>Ggc	p.S317G	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.S317G(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CTTGCAGGGCTTTTTGCTTCT	0.458																																					p.S317G	Pancreas(37;839 1141 2599 26037)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A949G	6						.						134.0	121.0	125.0					6																	76715190		2203	4300	6503	76771910	SO:0001583	missense	3617	exon10			AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.949A>G	6.37:g.76715190T>C	ENSP00000358966:p.Ser317Gly	Somatic		Capture	SOLID	Phase_I	76771910	NM_001563		Missense_Mutation	SNP	ENST00000369950.3	37	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	T	9.467	1.094680	0.20471	.	.	ENSG00000112706	ENST00000369950	T	0.39592	1.07	5.69	-3.71	0.04424	SEA (2);	0.605256	0.17615	N	0.167951	T	0.08758	0.0217	L	0.33485	1.01	0.09310	N	1	B	0.13594	0.008	B	0.20384	0.029	T	0.22521	-1.0214	10	0.34782	T	0.22	.	2.1862	0.03887	0.1234:0.2572:0.3792:0.2403	.	317	Q17R60	IMPG1_HUMAN	G	317	ENSP00000358966:S317G	ENSP00000358966:S317G	S	-	1	0	IMPG1	76771910	0.000000	0.05858	0.039000	0.18376	0.794000	0.44872	-0.482000	0.06544	-0.475000	0.06852	0.397000	0.26171	AGC		0.458	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563	
ORC3	23595	hgsc.bcm.edu	37	6	88362853	88362853	+	Missense_Mutation	SNP	C	C	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:88362853C>G	ENST00000392844.3	+	14	1450	c.1402C>G	c.(1402-1404)Ctg>Gtg	p.L468V	ORC3_ENST00000546266.1_Missense_Mutation_p.L325V|ORC3_ENST00000257789.4_Missense_Mutation_p.L468V|ORC3_ENST00000417380.2_3'UTR	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	468					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA replication origin binding (GO:0003688)	p.L468V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						AAAGGATGAACTGATGACCAT	0.338																																					p.L468V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1402G	6						.						105.0	108.0	107.0					6																	88362853		2203	4300	6503	88419572	SO:0001583	missense	23595	exon14			AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336			8489	protein-coding gene	gene with protein product		604972	"""origin recognition complex, subunit 3 (yeast homolog)-like"", ""origin recognition complex, subunit 3-like (yeast)"", ""origin recognition complex, subunit 3 honolog (yeast)"""	ORC3L		9829972, 10402192	Standard	NM_181837		Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.1402C>G	6.37:g.88362853C>G	ENSP00000376586:p.Leu468Val	Somatic		Capture	SOLID	Phase_I	88419572	NM_012381	A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Missense_Mutation	SNP	ENST00000392844.3	37	CCDS43486.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.295702	0.60086	.	.	ENSG00000135336	ENST00000392844;ENST00000257789;ENST00000546266	T;T;T	0.17854	2.58;2.61;2.25	5.71	3.93	0.45458	.	0.078715	0.53938	D	0.000056	T	0.20577	0.0495	M	0.76328	2.33	0.47341	D	0.999391	D;D;P;D;D	0.71674	0.998;0.995;0.908;0.995;0.987	P;P;B;P;P	0.60473	0.875;0.753;0.391;0.81;0.803	T	0.03374	-1.1043	10	0.51188	T	0.08	-3.8312	4.9486	0.14002	0.169:0.6613:0.0:0.1698	.	468;468;406;468;468	B7ZAI3;B7Z8A5;B4E014;Q9UBD5;Q9UBD5-2	.;.;.;ORC3_HUMAN;.	V	468;468;325	ENSP00000376586:L468V;ENSP00000257789:L468V;ENSP00000444695:L325V	ENSP00000257789:L468V	L	+	1	2	ORC3	88419572	0.999000	0.42202	1.000000	0.80357	0.973000	0.67179	0.412000	0.21131	1.416000	0.47057	-0.137000	0.14449	CTG		0.338	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041452.2		
CNR1	1268	hgsc.bcm.edu	37	6	88854002	88854002	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:88854002C>T	ENST00000537554.1	-	2	4554	c.992G>A	c.(991-993)cGg>cAg	p.R331Q	CNR1_ENST00000428600.2_Missense_Mutation_p.R331Q|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000549716.1_Missense_Mutation_p.R270Q|CNR1_ENST00000369499.2_Missense_Mutation_p.R331Q|CNR1_ENST00000468898.1_Missense_Mutation_p.R298Q|CNR1_ENST00000369501.2_Missense_Mutation_p.R331Q|CNR1_ENST00000549890.1_Missense_Mutation_p.R331Q|CNR1_ENST00000535130.1_Missense_Mutation_p.R331Q	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	331					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)	p.R331Q(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TTGGTCTGGCCGGGTCACCTG	0.582																																					p.R331Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G992A	6						.						154.0	158.0	157.0					6																	88854002		2203	4300	6503	88910721	SO:0001583	missense	1268	exon2			AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.992G>A	6.37:g.88854002C>T	ENSP00000441046:p.Arg331Gln	Somatic		Capture	SOLID	Phase_I	88910721	NM_001160259	B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	ENST00000537554.1	37	CCDS5015.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.007266	0.54361	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000549716	T;T;T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	6.05	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72645	0.3486	L	0.41824	1.3	0.58432	D	0.999999	D;P	0.76494	0.999;0.818	D;B	0.77557	0.99;0.421	T	0.73917	-0.3831	10	0.39692	T	0.17	.	17.3522	0.87327	0.0:0.8749:0.1251:0.0	.	298;331	P21554-3;P21554	.;CNR1_HUMAN	Q	331;331;331;331;331;298;331;270	ENSP00000358513:R331Q;ENSP00000442689:R331Q;ENSP00000441046:R331Q;ENSP00000358511:R331Q;ENSP00000446819:R331Q;ENSP00000420188:R298Q;ENSP00000412192:R331Q;ENSP00000449549:R270Q	ENSP00000358511:R331Q	R	-	2	0	CNR1	88910721	1.000000	0.71417	0.999000	0.59377	0.471000	0.32888	7.487000	0.81328	1.551000	0.49450	0.655000	0.94253	CGG		0.582	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2		
MDN1	23195	hgsc.bcm.edu	37	6	90406180	90406180	+	Silent	SNP	A	A	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:90406180A>T	ENST00000369393.3	-	60	9397	c.9282T>A	c.(9280-9282)tcT>tcA	p.S3094S	MDN1_ENST00000428876.1_Silent_p.S3094S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3094					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.S3094S(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GGGTCACGTGAGAGGAGGAAA	0.493																																					p.S3094S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T9282A	6						.						80.0	77.0	78.0					6																	90406180		2203	4300	6503	90462901	SO:0001819	synonymous_variant	23195	exon60			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.9282T>A	6.37:g.90406180A>T		Somatic		Capture	SOLID	Phase_I	90462901	NM_014611	O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	CCDS5024.1																																																																																				0.493	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
MDN1	23195	hgsc.bcm.edu	37	6	90461289	90461289	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:90461289G>A	ENST00000369393.3	-	23	3203	c.3088C>T	c.(3088-3090)Cca>Tca	p.P1030S	MDN1_ENST00000428876.1_Missense_Mutation_p.P1030S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1030					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.P1030S(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCTCCTTTTGGCTCTGGAATA	0.448																																					p.P1030S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3088T	6						.						102.0	91.0	95.0					6																	90461289		2203	4300	6503	90518010	SO:0001583	missense	23195	exon23			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.3088C>T	6.37:g.90461289G>A	ENSP00000358400:p.Pro1030Ser	Somatic		Capture	SOLID	Phase_I	90518010	NM_014611	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126732	0.77549	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.19938	3.68;3.68;2.11	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.49592	0.1566	M	0.93763	3.455	0.58432	D	0.999998	D;B	0.63046	0.992;0.369	P;B	0.61477	0.889;0.066	T	0.59306	-0.7479	10	0.45353	T	0.12	.	19.8625	0.96789	0.0:0.0:1.0:0.0	.	957;1030	Q5T795;Q9NU22	.;MDN1_HUMAN	S	1030;1030;957	ENSP00000358400:P1030S;ENSP00000413970:P1030S;ENSP00000409664:P957S	ENSP00000358400:P1030S	P	-	1	0	MDN1	90518010	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.312000	0.96287	2.689000	0.91719	0.655000	0.94253	CCA		0.448	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
BACH2	60468	hgsc.bcm.edu	37	6	90661301	90661301	+	Missense_Mutation	SNP	G	G	A	rs546286243		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:90661301G>A	ENST00000257749.4	-	7	1231	c.524C>T	c.(523-525)aCg>aTg	p.T175M	BACH2_ENST00000343122.3_Missense_Mutation_p.T175M|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000537989.1_Missense_Mutation_p.T175M|RP3-512E2.2_ENST00000445838.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	175						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)	p.T175M(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CATCTTGGCCGTCTCTGAATC	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		18028	0.0		0.0	False		,,,				2504	0.001				p.T175M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C524T	6						.						114.0	110.0	112.0					6																	90661301		2203	4300	6503	90718022	SO:0001583	missense	60468	exon7			AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.524C>T	6.37:g.90661301G>A	ENSP00000257749:p.Thr175Met	Somatic		Capture	SOLID	Phase_I	90718022	NM_021813	E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	ENST00000257749.4	37	CCDS5026.1	.	.	.	.	.	.	.	.	.	.	G	4.649	0.120698	0.08881	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	T;T;T	0.39406	1.08;1.08;1.08	5.49	4.62	0.57501	.	0.210963	0.49916	N	0.000124	T	0.15869	0.0382	L	0.27053	0.805	0.31500	N	0.664868	B	0.16396	0.017	B	0.11329	0.006	T	0.07195	-1.0785	10	0.34782	T	0.22	-17.6706	14.8316	0.70153	0.0701:0.0:0.9299:0.0	.	175	Q9BYV9	BACH2_HUMAN	M	175	ENSP00000257749:T175M;ENSP00000437473:T175M;ENSP00000345642:T175M	ENSP00000257749:T175M	T	-	2	0	BACH2	90718022	0.995000	0.38212	0.783000	0.31826	0.320000	0.28249	3.002000	0.49496	1.445000	0.47624	0.563000	0.77884	ACG		0.622	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813	
QKI	9444	hgsc.bcm.edu	37	6	163987809	163987809	+	Missense_Mutation	SNP	A	A	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr6:163987809A>T	ENST00000361752.3	+	7	1542	c.991A>T	c.(991-993)Att>Ttt	p.I331F	QKI_ENST00000361195.2_Missense_Mutation_p.I323F|QKI_ENST00000275262.7_3'UTR|QKI_ENST00000392127.2_3'UTR|QKI_ENST00000453779.2_3'UTR	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	331					long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.I331F(1)		central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		TTACCAAAGGATTGTGACCGC	0.418																																					p.I331F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A991T	6						.						130.0	110.0	117.0					6																	163987809		2203	4300	6503	163907799	SO:0001583	missense	9444	exon7			AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"""quaking homolog, KH domain RNA binding (mouse)"""			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.991A>T	6.37:g.163987809A>T	ENSP00000355094:p.Ile331Phe	Somatic		Capture	SOLID	Phase_I	163907799	NM_006775	Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Missense_Mutation	SNP	ENST00000361752.3	37	CCDS5285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.63|12.63	1.995882|1.995882	0.35226|0.35226	.|.	.|.	ENSG00000112531|ENSG00000112531	ENST00000537883;ENST00000544361|ENST00000361752;ENST00000361195	.|.	.|.	.|.	5.67|5.67	3.27|3.27	0.37495|0.37495	.|.	.|0.103999	.|0.64402	.|D	.|0.000004	T|T	0.20618|0.20618	0.0496|0.0496	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|P;B	.|0.34546	.|0.456;0.232	.|B;B	.|0.32533	.|0.136;0.147	T|T	0.06445|0.06445	-1.0826|-1.0826	5|9	.|0.54805	.|T	.|0.06	-2.3283|-2.3283	10.1556|10.1556	0.42820|0.42820	0.8641:0.0:0.1359:0.0|0.8641:0.0:0.1359:0.0	.|.	.|323;331	.|Q96PU8-3;Q96PU8	.|.;QKI_HUMAN	V|F	227;164|331;323	.|.	.|ENSP00000354867:I323F	D|I	+|+	2|1	0|0	QKI|QKI	163907799|163907799	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.365000|3.365000	0.52335|0.52335	0.502000|0.502000	0.28037|0.28037	0.477000|0.477000	0.44152|0.44152	GAT|ATT		0.418	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	NM_006775	
TSR1	55720	hgsc.bcm.edu	37	17	2238857	2238857	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr17:2238857C>T	ENST00000301364.5	-	3	1448	c.369G>A	c.(367-369)atG>atA	p.M123I	SGSM2_ENST00000574563.1_5'Flank|TSR1_ENST00000576112.2_Missense_Mutation_p.M123I|SGSM2_ENST00000268989.3_5'Flank|SGSM2_ENST00000426855.2_5'Flank	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	123	Bms1-type G.				ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.M123I(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						GGCACAGCAGCATAAAGTTCT	0.453																																					p.M123I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G369A	17						.						74.0	68.0	70.0					17																	2238857		2203	4300	6503	2185607	SO:0001583	missense	55720	exon3			AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"""TSR1, 20S rRNA accumulation, homolog (yeast)"""			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.369G>A	17.37:g.2238857C>T	ENSP00000301364:p.Met123Ile	Somatic		Capture	SOLID	Phase_I	2185607	NM_018128	Q8WUY5|Q9NVT0|Q9P2E6	Missense_Mutation	SNP	ENST00000301364.5	37	CCDS32525.1	.	.	.	.	.	.	.	.	.	.	C	7.347	0.622043	0.14193	.	.	ENSG00000167721	ENST00000301364	T	0.41758	0.99	5.71	5.71	0.89125	.	0.366777	0.34507	N	0.003909	T	0.32734	0.0839	L	0.44542	1.39	0.28193	N	0.927679	B	0.06786	0.001	B	0.04013	0.001	T	0.12656	-1.0539	10	0.21540	T	0.41	-6.7395	9.909	0.41394	0.1549:0.6958:0.1493:0.0	.	123	Q2NL82	TSR1_HUMAN	I	123	ENSP00000301364:M123I	ENSP00000301364:M123I	M	-	3	0	TSR1	2185607	0.999000	0.42202	0.998000	0.56505	0.045000	0.14185	0.566000	0.23593	2.691000	0.91804	0.561000	0.74099	ATG		0.453	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438180.2	NM_018128	
MYH8	4626	hgsc.bcm.edu	37	17	10301936	10301936	+	Missense_Mutation	SNP	C	C	T	rs142232788	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr17:10301936C>T	ENST00000403437.2	-	30	4097	c.4003G>A	c.(4003-4005)Gcc>Acc	p.A1335T	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1335					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.A1335T(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GACTGCAGGGCGTGTGCCAGG	0.527									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				C|||	9	0.00179712	0.0068	0.0	5008	,	,		13732	0.0		0.0	False		,,,				2504	0.0				p.A1335T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4003A	17						.	C	THR/ALA	13,4393	20.2+/-43.8	0,13,2190	104.0	99.0	100.0		4003	5.1	1.0	17	dbSNP_134	100	0,8600		0,0,4300	yes	missense	MYH8	NM_002472.2	58	0,13,6490	TT,TC,CC		0.0,0.2951,0.1	benign	1335/1938	10301936	13,12993	2203	4300	6503	10242661	SO:0001583	missense	4626	exon30	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.4003G>A	17.37:g.10301936C>T	ENSP00000384330:p.Ala1335Thr	Somatic		Capture	SOLID	Phase_I	10242661	NM_002472	Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	C	25.0	4.596005	0.86953	0.002951	0.0	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.78003	-1.14	5.13	5.13	0.70059	Myosin tail (1);	0.187195	0.25657	U	0.029172	T	0.76637	0.4015	M	0.77486	2.375	0.41207	D	0.986411	P	0.39576	0.679	B	0.41691	0.364	T	0.82853	-0.0252	10	0.66056	D	0.02	.	18.7667	0.91876	0.0:1.0:0.0:0.0	.	1335	P13535	MYH8_HUMAN	T	1335	ENSP00000384330:A1335T	ENSP00000252173:A1335T	A	-	1	0	MYH8	10242661	1.000000	0.71417	1.000000	0.80357	0.459000	0.32528	5.781000	0.68964	2.668000	0.90789	0.655000	0.94253	GCC		0.527	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	
SUPT6H	6830	hgsc.bcm.edu	37	17	27031760	27031760	+	IGR	SNP	G	G	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr17:27031760G>T	ENST00000314616.6	+	0	6518				PROCA1_ENST00000301039.2_Missense_Mutation_p.L65I|PROCA1_ENST00000581289.1_Intron|PROCA1_ENST00000439862.3_Missense_Mutation_p.L67I|PROCA1_ENST00000579650.1_5'UTR	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)						chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L65I(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					ACAGAGTGTAGGTGCAGGCTG	0.582																																					p.L65I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C193A	17						.						118.0	99.0	106.0					17																	27031760		2203	4300	6503	24055887	SO:0001628	intergenic_variant	147011	exon2			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85			17.37:g.27031760G>T		Somatic		Capture	SOLID	Phase_I	24055887	NM_152465	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	G	9.657	1.143037	0.21205	.	.	ENSG00000167525	ENST00000301039;ENST00000439862;ENST00000415329;ENST00000422880	T;T	0.29655	1.56;1.56	5.3	1.56	0.23342	.	0.408805	0.26016	N	0.026857	T	0.25082	0.0609	L	0.59436	1.845	0.24281	N	0.995207	B;B	0.26845	0.161;0.161	B;B	0.30495	0.116;0.116	T	0.14200	-1.0481	10	0.33940	T	0.23	-4.685	3.7721	0.08646	0.1023:0.1574:0.5673:0.173	.	67;65	G5E9R8;Q8NCQ7-2	.;.	I	65;67;93;67	ENSP00000301039:L65I;ENSP00000411400:L67I	ENSP00000301039:L65I	L	-	1	2	PROCA1	24055887	1.000000	0.71417	0.024000	0.17045	0.138000	0.21146	1.742000	0.38248	0.546000	0.28920	0.655000	0.94253	CTA		0.582	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170	
UNC45B	146862	hgsc.bcm.edu	37	17	33491133	33491133	+	Missense_Mutation	SNP	C	C	T	rs116362062	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr17:33491133C>T	ENST00000268876.5	+	9	1196	c.1099C>T	c.(1099-1101)Cgc>Tgc	p.R367C	RP11-799D4.3_ENST00000585646.1_RNA|UNC45B_ENST00000433649.1_Missense_Mutation_p.R367C|UNC45B_ENST00000394570.2_Missense_Mutation_p.R367C|UNC45B_ENST00000378449.1_Missense_Mutation_p.R367C|UNC45B_ENST00000591048.1_Missense_Mutation_p.R367C	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	367					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.R367C(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGATGACCTGCGCTGTGACCC	0.552													C|||	93	0.0185703	0.0681	0.0043	5008	,	,		19667	0.0		0.0	False		,,,				2504	0.0				p.R367C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1099T	17						.	C	CYS/ARG,CYS/ARG	178,4228	115.9+/-153.8	1,176,2026	195.0	182.0	186.0		1099,1099	4.5	1.0	17	dbSNP_132	186	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	UNC45B	NM_001033576.1,NM_173167.2	180,180	1,179,6323	TT,TC,CC		0.0349,4.0399,1.3917	probably-damaging,probably-damaging	367/930,367/932	33491133	181,12825	2203	4300	6503	30515246	SO:0001583	missense	146862	exon9			AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1099C>T	17.37:g.33491133C>T	ENSP00000268876:p.Arg367Cys	Somatic		Capture	SOLID	Phase_I	30515246	NM_173167	Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	CCDS11292.1	32	0.014652014652014652	30	0.06097560975609756	2	0.0055248618784530384	0	0.0	0	0.0	C	18.89	3.719268	0.68844	0.040399	3.49E-4	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T;T	0.30714	1.52;3.22;1.52;3.21	4.54	4.54	0.55810	.	0.226590	0.45606	D	0.000350	T	0.07818	0.0196	L	0.44542	1.39	0.38262	D	0.941917	D;D;D	0.76494	0.999;0.999;0.999	D;P;D	0.64144	0.922;0.899;0.91	T	0.04413	-1.0953	10	0.46703	T	0.11	-17.4117	16.8198	0.85743	0.0:1.0:0.0:0.0	.	367;367;367	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	C	367	ENSP00000378071:R367C;ENSP00000268876:R367C;ENSP00000412840:R367C;ENSP00000367710:R367C	ENSP00000268876:R367C	R	+	1	0	UNC45B	30515246	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.944000	0.49034	2.530000	0.85305	0.561000	0.74099	CGC		0.552	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167	
SHPK	23729	hgsc.bcm.edu	37	17	3518774	3518774	+	Missense_Mutation	SNP	G	G	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr17:3518774G>T	ENST00000225519.3	-	6	983	c.881C>A	c.(880-882)cCt>cAt	p.P294H		NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	294					carbohydrate metabolic process (GO:0005975)|cellular response to interleukin-13 (GO:0035963)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|phosphorylation (GO:0016310)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|sedoheptulokinase activity (GO:0050277)	p.P294H(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		AGTCTGTGCAGGCTGGAATCC	0.602																																					p.P294H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C881A	17						.						79.0	70.0	73.0					17																	3518774		2203	4300	6503	3465523	SO:0001583	missense	23729	exon6			AF163573	CCDS11030.1	17p13	2008-02-08	2008-02-08	2008-02-08	ENSG00000197417	ENSG00000197417	2.7.1.14		1492	protein-coding gene	gene with protein product		605060	"""carbohydrate kinase-like"""	CARKL		10673275, 18186520	Standard	NM_013276		Approved	SHK	uc002fvz.1	Q9UHJ6	OTTHUMG00000090694	ENST00000225519.3:c.881C>A	17.37:g.3518774G>T	ENSP00000225519:p.Pro294His	Somatic		Capture	SOLID	Phase_I	3465523	NM_013276	B2R640|Q8WUH3	Missense_Mutation	SNP	ENST00000225519.3	37	CCDS11030.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858408	0.71834	.	.	ENSG00000197417	ENST00000225519	T	0.17370	2.28	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.37652	0.1011	M	0.78916	2.43	0.80722	D	1	D	0.60160	0.987	P	0.53593	0.73	T	0.23226	-1.0194	10	0.66056	D	0.02	-20.8921	18.4479	0.90691	0.0:0.0:1.0:0.0	.	294	Q9UHJ6	SHPK_HUMAN	H	294	ENSP00000225519:P294H	ENSP00000225519:P294H	P	-	2	0	SHPK	3465523	1.000000	0.71417	0.962000	0.40283	0.336000	0.28762	9.047000	0.93823	2.681000	0.91329	0.650000	0.86243	CCT		0.602	SHPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207378.2		
UNC45B	146862	hgsc.bcm.edu	37	17	33504118	33504118	+	Missense_Mutation	SNP	C	C	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr17:33504118C>G	ENST00000268876.5	+	16	2211	c.2114C>G	c.(2113-2115)tCc>tGc	p.S705C	UNC45B_ENST00000433649.1_Missense_Mutation_p.S703C|UNC45B_ENST00000394570.2_Missense_Mutation_p.S703C|UNC45B_ENST00000378449.1_Missense_Mutation_p.S624C|UNC45B_ENST00000591048.1_Missense_Mutation_p.S624C	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	705					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.S705C(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GCTGCTGTCTCCAATCCGGAC	0.582																																					p.S705C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2114G	17						.						119.0	92.0	101.0					17																	33504118		2203	4300	6503	30528231	SO:0001583	missense	146862	exon16			AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.2114C>G	17.37:g.33504118C>G	ENSP00000268876:p.Ser705Cys	Somatic		Capture	SOLID	Phase_I	30528231	NM_173167	Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624865	0.66901	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T	0.51071	3.53;3.17;0.72	5.08	5.08	0.68730	Armadillo-like helical (1);Armadillo-type fold (1);	0.109676	0.64402	D	0.000004	T	0.70176	0.3194	M	0.79805	2.47	0.54753	D	0.999985	D;D;D	0.71674	0.998;0.998;0.988	D;D;P	0.68353	0.924;0.957;0.838	T	0.72381	-0.4311	10	0.54805	T	0.06	-21.911	18.0106	0.89222	0.0:1.0:0.0:0.0	.	624;703;705	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	C	705;705;703;624	ENSP00000268876:S705C;ENSP00000412840:S703C;ENSP00000367710:S624C	ENSP00000268876:S705C	S	+	2	0	UNC45B	30528231	1.000000	0.71417	0.989000	0.46669	0.983000	0.72400	7.617000	0.83032	2.814000	0.96858	0.563000	0.77884	TCC		0.582	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167	
KRT26	353288	hgsc.bcm.edu	37	17	38926052	38926052	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr17:38926052C>T	ENST00000335552.4	-	5	971	c.923G>A	c.(922-924)cGc>cAc	p.R308H		NM_181539.4	NP_853517.2			keratin 26									p.R308H(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				TTGCAGATTGCGTTTTAATTC	0.433																																					p.R308H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G923A	17						.						185.0	169.0	174.0					17																	38926052		2203	4300	6503	36179578	SO:0001583	missense	353288	exon5			AJ564205	CCDS11374.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000186393	ENSG00000186393		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30840	protein-coding gene	gene with protein product			"""keratin 25B"""	KRT25B		16831889	Standard	NM_181539		Approved		uc002hvf.3	Q7Z3Y9	OTTHUMG00000133370	ENST00000335552.4:c.923G>A	17.37:g.38926052C>T	ENSP00000334798:p.Arg308His	Somatic		Capture	SOLID	Phase_I	36179578	NM_181539		Missense_Mutation	SNP	ENST00000335552.4	37	CCDS11374.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.063375	0.55432	.	.	ENSG00000186393	ENST00000335552	D	0.90504	-2.68	5.24	4.27	0.50696	Filament (1);	0.000000	0.64402	D	0.000019	D	0.94298	0.8168	M	0.78916	2.43	0.42711	D	0.993646	D	0.89917	1.0	D	0.80764	0.994	D	0.94356	0.7583	10	0.72032	D	0.01	.	10.3224	0.43773	0.0:0.8486:0.0:0.1514	.	308	Q7Z3Y9	K1C26_HUMAN	H	308	ENSP00000334798:R308H	ENSP00000334798:R308H	R	-	2	0	KRT26	36179578	0.999000	0.42202	0.992000	0.48379	0.071000	0.16799	4.258000	0.58822	1.344000	0.45657	0.655000	0.94253	CGC		0.433	KRT26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257215.1	NM_181539	
HAP1	9001	hgsc.bcm.edu	37	17	39881348	39881348	+	Missense_Mutation	SNP	C	C	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr17:39881348C>A	ENST00000310778.5	-	12	1630	c.1621G>T	c.(1621-1623)Ggg>Tgg	p.G541W	HAP1_ENST00000341193.5_Missense_Mutation_p.G472W|HAP1_ENST00000347901.4_Missense_Mutation_p.G489W|JUP_ENST00000540235.1_Intron|HAP1_ENST00000393939.2_Missense_Mutation_p.G464W			P54257	HAP1_HUMAN	huntingtin-associated protein 1	541	Glu-rich.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)	p.G489W(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			AGCATCAACCCTTCCTCAGCC	0.602																																					p.G464W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1390T	17						.						151.0	165.0	160.0					17																	39881348		2203	4300	6503	37134874	SO:0001583	missense	9001	exon10			AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"""neuroan 1"""	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.1621G>T	17.37:g.39881348C>A	ENSP00000309392:p.Gly541Trp	Somatic		Capture	SOLID	Phase_I	37134874	NM_001079871	A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Missense_Mutation	SNP	ENST00000310778.5	37		.	.	.	.	.	.	.	.	.	.	C	13.31	2.199767	0.38905	.	.	ENSG00000173805	ENST00000442364;ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T;T	0.57436	0.4;3.17;3.42;3.28;3.17	2.8	1.83	0.25207	.	0.000000	0.33772	N	0.004563	T	0.53110	0.1776	N	0.24115	0.695	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.76071	0.98;0.98;0.987;0.97	T	0.37753	-0.9692	10	0.72032	D	0.01	-6.4854	7.9244	0.29865	0.0:0.8698:0.0:0.1301	.	464;472;489;541	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	W	16;464;541;489;472	ENSP00000388981:G16W;ENSP00000377513:G464W;ENSP00000309392:G541W;ENSP00000334002:G489W;ENSP00000343170:G472W	ENSP00000309392:G541W	G	-	1	0	HAP1	37134874	0.000000	0.05858	0.002000	0.10522	0.022000	0.10575	-0.253000	0.08794	0.745000	0.32763	0.514000	0.50259	GGG		0.602	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949	
ZZEF1	23140	hgsc.bcm.edu	37	17	3928387	3928387	+	Missense_Mutation	SNP	C	C	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr17:3928387C>A	ENST00000381638.2	-	43	7042	c.6918G>T	c.(6916-6918)aaG>aaT	p.K2306N		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2306							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.K2306N(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GTCCTCCTCCCTTCTGGACCA	0.507																																					p.K2306N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6918T	17						.						75.0	66.0	69.0					17																	3928387		2203	4300	6503	3875136	SO:0001583	missense	23140	exon43			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.6918G>T	17.37:g.3928387C>A	ENSP00000371051:p.Lys2306Asn	Somatic		Capture	SOLID	Phase_I	3875136	NM_015113	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.628099	0.66901	.	.	ENSG00000074755	ENST00000381638	T	0.22134	1.97	5.8	1.27	0.21489	.	0.414587	0.27836	N	0.017641	T	0.09642	0.0237	N	0.19112	0.55	0.33566	D	0.597935	P	0.41475	0.751	B	0.33960	0.173	T	0.20706	-1.0267	10	0.72032	D	0.01	-20.2762	5.0667	0.14585	0.0:0.3531:0.2727:0.3742	.	2306	O43149	ZZEF1_HUMAN	N	2306	ENSP00000371051:K2306N	ENSP00000371051:K2306N	K	-	3	2	ZZEF1	3875136	0.000000	0.05858	1.000000	0.80357	0.955000	0.61496	-0.267000	0.08619	0.698000	0.31739	0.555000	0.69702	AAG		0.507	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113	
KCNH4	23415	hgsc.bcm.edu	37	17	40312202	40312202	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr17:40312202C>T	ENST00000264661.3	-	16	3242	c.2910G>A	c.(2908-2910)gcG>gcA	p.A970A	KCNH4_ENST00000607371.1_Silent_p.A970A	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	970					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.A970A(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGTCCAGGAGCGCAGTCCCTG	0.622																																					p.A970A	NSCLC(117;707 1703 2300 21308 31858)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2910A	17						.						74.0	68.0	70.0					17																	40312202		2203	4300	6503	37565728	SO:0001819	synonymous_variant	23415	exon16			AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.2910G>A	17.37:g.40312202C>T		Somatic		Capture	SOLID	Phase_I	37565728	NM_012285		Silent	SNP	ENST00000264661.3	37	CCDS11420.1																																																																																				0.622	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285	
UBTF	7343	hgsc.bcm.edu	37	17	42287592	42287592	+	Missense_Mutation	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr17:42287592A>G	ENST00000302904.4	-	15	2018	c.1526T>C	c.(1525-1527)gTg>gCg	p.V509A	UBTF_ENST00000533177.1_Missense_Mutation_p.V472A|UBTF_ENST00000436088.1_Missense_Mutation_p.V509A|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000393606.3_Missense_Mutation_p.V472A|UBTF_ENST00000529383.1_Missense_Mutation_p.V509A|UBTF_ENST00000526094.1_Missense_Mutation_p.V472A|UBTF_ENST00000527034.1_Missense_Mutation_p.V472A|UBTF_ENST00000343638.5_Missense_Mutation_p.V472A			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	509					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.V509A(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CAAGGCCTTCACCCGGTCATT	0.522											OREG0024456	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.V472A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1415C	17						.						159.0	162.0	161.0					17																	42287592		2203	4300	6503	39643118	SO:0001583	missense	7343	exon14			BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.1526T>C	17.37:g.42287592A>G	ENSP00000302640:p.Val509Ala	Somatic	907	Capture	SOLID	Phase_I	39643118	NM_001076683	A8K6R8	Missense_Mutation	SNP	ENST00000302904.4	37	CCDS11480.1	.	.	.	.	.	.	.	.	.	.	a	5.371	0.253686	0.10185	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383;ENST00000529373	D;D;D;D;D;D;D;D;T	0.98178	-4.71;-4.04;-4.77;-4.71;-4.04;-4.71;-4.71;-4.04;2.04	5.13	4.04	0.47022	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (3);	0.586122	0.16960	N	0.192535	D	0.89643	0.6774	N	0.02539	-0.55	0.30222	N	0.796727	B;B;B	0.10296	0.001;0.003;0.001	B;B;B	0.06405	0.001;0.002;0.002	T	0.82608	-0.0373	10	0.08179	T	0.78	-16.1483	2.0006	0.03466	0.5795:0.1626:0.0873:0.1705	.	472;472;509	E9PKP7;P17480-2;P17480	.;.;UBF1_HUMAN	A	472;509;472;472;509;472;472;509;96	ENSP00000345297:V472A;ENSP00000302640:V509A;ENSP00000431539:V472A;ENSP00000437180:V472A;ENSP00000390669:V509A;ENSP00000377231:V472A;ENSP00000432925:V472A;ENSP00000435708:V509A;ENSP00000431295:V96A	ENSP00000302640:V509A	V	-	2	0	UBTF	39643118	0.727000	0.28069	1.000000	0.80357	0.945000	0.59286	2.033000	0.41136	0.778000	0.33520	0.383000	0.25322	GTG		0.522	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233	
KANSL1	284058	hgsc.bcm.edu	37	17	44144024	44144024	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr17:44144024C>T	ENST00000262419.6	-	6	2197	c.1727G>A	c.(1726-1728)cGa>cAa	p.R576Q	KANSL1_ENST00000432791.1_Missense_Mutation_p.R576Q|KANSL1_ENST00000574590.1_Missense_Mutation_p.R576Q|KANSL1_ENST00000572904.1_Missense_Mutation_p.R576Q|KANSL1_ENST00000575318.1_Missense_Mutation_p.R576Q|KANSL1_ENST00000393476.3_5'UTR	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	576					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.R576Q(1)									GAGATTCAGTCGTTGCTTCTT	0.507																																					p.R576Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1727A	17						.						119.0	96.0	104.0					17																	44144024		2203	4300	6503	41499846	SO:0001583	missense	284058	exon6			BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.1727G>A	17.37:g.44144024C>T	ENSP00000262419:p.Arg576Gln	Somatic		Capture	SOLID	Phase_I	41499846	NM_015443	A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	37	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.799192	0.90538	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	T;T	0.15952	2.38;2.38	4.93	4.93	0.64822	.	0.447428	0.22051	N	0.065302	T	0.40171	0.1106	M	0.65975	2.015	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.76071	0.986;0.987	T	0.16364	-1.0405	10	0.54805	T	0.06	-4.3542	14.867	0.70425	0.0:1.0:0.0:0.0	.	576;576	C9JHY2;Q7Z3B3	.;K1267_HUMAN	Q	576	ENSP00000262419:R576Q;ENSP00000387393:R576Q	ENSP00000262419:R576Q	R	-	2	0	KIAA1267	41499846	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	5.282000	0.65615	2.258000	0.74832	0.555000	0.69702	CGA		0.507	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443	
WNT3	7473	hgsc.bcm.edu	37	17	44846047	44846047	+	Missense_Mutation	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr17:44846047T>C	ENST00000225512.5	-	4	869	c.707A>G	c.(706-708)gAc>gGc	p.D236G		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	236					anterior/posterior axis specification (GO:0009948)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell fate commitment (GO:0045165)|cell morphogenesis (GO:0000902)|cellular response to retinoic acid (GO:0071300)|dorsal/ventral axis specification (GO:0009950)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|gamete generation (GO:0007276)|head morphogenesis (GO:0060323)|limb bud formation (GO:0060174)|mammary gland epithelium development (GO:0061180)|mesoderm formation (GO:0001707)|negative regulation of axon extension involved in axon guidance (GO:0048843)|neuron differentiation (GO:0030182)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of gene expression (GO:0010628)|Spemann organizer formation at the anterior end of the primitive streak (GO:0060064)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)	p.D236G(1)		endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GTCATACTTGTCCTTGAGGAA	0.612																																					p.D236G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A707G	17						.						91.0	94.0	93.0					17																	44846047		2203	4300	6503	42201216	SO:0001583	missense	7473	exon4			AY009397	CCDS11505.1	17q21-q22	2013-02-28				ENSG00000108379		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12782	protein-coding gene	gene with protein product	"""WNT-3 proto-oncogene protein"""	165330		INT4		8244403	Standard	NM_030753		Approved	MGC131950, MGC138321, MGC138323	uc002ikv.3	P56703		ENST00000225512.5:c.707A>G	17.37:g.44846047T>C	ENSP00000225512:p.Asp236Gly	Somatic		Capture	SOLID	Phase_I	42201216	NM_030753	Q2M237|Q9H1J9	Missense_Mutation	SNP	ENST00000225512.5	37	CCDS11505.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.693102	0.88735	.	.	ENSG00000108379	ENST00000225512	T	0.76448	-1.02	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.88496	0.6452	M	0.83603	2.65	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.90213	0.4266	10	0.72032	D	0.01	.	14.9819	0.71316	0.0:0.0:0.0:1.0	.	236	P56703	WNT3_HUMAN	G	236	ENSP00000225512:D236G	ENSP00000225512:D236G	D	-	2	0	WNT3	42201216	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.868000	0.87116	2.117000	0.64856	0.459000	0.35465	GAC		0.612	WNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440427.1	NM_030753	
KIF1C	10749	hgsc.bcm.edu	37	17	4906119	4906119	+	Silent	SNP	G	G	A	rs150944204	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr17:4906119G>A	ENST00000320785.5	+	8	1059	c.702G>A	c.(700-702)acG>acA	p.T234T		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	234	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)	p.T234T(1)		NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						ACCAGCTCACGGGGCTGGACT	0.617																																					p.T234T	Melanoma(96;1023 1447 10250 19259 33730)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G702A	17						.	G		4,4402	8.1+/-20.4	0,4,2199	120.0	97.0	105.0		702	-10.8	0.6	17	dbSNP_134	105	0,8600		0,0,4300	no	coding-synonymous	KIF1C	NM_006612.5		0,4,6499	AA,AG,GG		0.0,0.0908,0.0308		234/1104	4906119	4,13002	2203	4300	6503	4846843	SO:0001819	synonymous_variant	10749	exon8			U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.702G>A	17.37:g.4906119G>A		Somatic		Capture	SOLID	Phase_I	4846843	NM_006612	D3DTL6|O75186|Q5U618	Silent	SNP	ENST00000320785.5	37	CCDS11065.1																																																																																				0.617	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1		
ABCC3	8714	hgsc.bcm.edu	37	17	48753745	48753745	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr17:48753745C>T	ENST00000285238.8	+	23	3254	c.3174C>T	c.(3172-3174)tcC>tcT	p.S1058S		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1058	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.S1058S(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	CGCCACAGTCCTTCTTTGACA	0.577																																					p.S1058S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3174T	17						.						331.0	237.0	269.0					17																	48753745		2203	4300	6503	46108744	SO:0001819	synonymous_variant	8714	exon23			Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.3174C>T	17.37:g.48753745C>T		Somatic		Capture	SOLID	Phase_I	46108744	NM_003786	B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Silent	SNP	ENST00000285238.8	37	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	C	9.861	1.196390	0.22037	.	.	ENSG00000108846	ENST00000513745	.	.	.	5.3	4.32	0.51571	.	.	.	.	.	T	0.55847	0.1946	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53380	-0.8447	4	.	.	.	-29.3703	6.3562	0.21402	0.1487:0.7001:0.0:0.1512	.	.	.	.	F	207	.	.	L	+	1	0	ABCC3	46108744	0.999000	0.42202	1.000000	0.80357	0.949000	0.60115	0.607000	0.24209	1.355000	0.45865	0.609000	0.83330	CTT		0.577	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038	
STXBP4	252983	hgsc.bcm.edu	37	17	53237206	53237206	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr17:53237206G>A	ENST00000376352.2	+	18	1803	c.1596G>A	c.(1594-1596)ctG>ctA	p.L532L	STXBP4_ENST00000434978.2_Silent_p.L510L	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	532					cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.L532L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						TGAGTGTCCTGAATCTATCTC	0.433																																					p.L532L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1596A	17						.						128.0	104.0	112.0					17																	53237206		2203	4300	6503	50592205	SO:0001819	synonymous_variant	252983	exon18			BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.1596G>A	17.37:g.53237206G>A		Somatic		Capture	SOLID	Phase_I	50592205	NM_178509	Q8IVZ5	Silent	SNP	ENST00000376352.2	37	CCDS11584.2																																																																																				0.433	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157184.1	NM_178509	
BZRAP1	9256	hgsc.bcm.edu	37	17	56400710	56400710	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr17:56400710G>A	ENST00000343736.4	-	7	1216	c.1053C>T	c.(1051-1053)tgC>tgT	p.C351C	BZRAP1_ENST00000355701.3_Silent_p.C351C|BZRAP1-AS1_ENST00000579527.1_RNA|BZRAP1_ENST00000268893.6_Silent_p.C291C			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	351						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)	p.C351C(2)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCAGGCTCTCGCATTTCTTCC	0.607																																					p.C351C												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1053T	17						.						176.0	181.0	179.0					17																	56400710		2203	4300	6503	53755709	SO:0001819	synonymous_variant	9256	exon7			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.1053C>T	17.37:g.56400710G>A		Somatic		Capture	SOLID	Phase_I	53755709	NM_004758	O75111|Q8N5W3	Silent	SNP	ENST00000343736.4	37	CCDS11605.1																																																																																				0.607	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758	
SUPT4H1	6827	hgsc.bcm.edu	37	17	56424896	56424896	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr17:56424896G>A	ENST00000225504.3	-	3	292	c.226C>T	c.(226-228)Cga>Tga	p.R76*	BZRAP1-AS1_ENST00000580633.1_RNA|BZRAP1-AS1_ENST00000582348.1_RNA|SUPT4H1_ENST00000580947.1_Nonsense_Mutation_p.R76*|BZRAP1-AS1_ENST00000580022.1_RNA|BZRAP1-AS1_ENST00000579527.1_RNA|BZRAP1-AS1_ENST00000578025.1_RNA|BZRAP1-AS1_ENST00000583826.1_RNA|SUPT4H1_ENST00000581540.1_Nonsense_Mutation_p.R67*|BZRAP1-AS1_ENST00000580515.1_RNA|BZRAP1-AS1_ENST00000585236.1_RNA|BZRAP1-AS1_ENST00000579859.1_RNA|BZRAP1-AS1_ENST00000578334.1_RNA|SUPT4H1_ENST00000577396.1_Nonsense_Mutation_p.R35*|BZRAP1-AS1_ENST00000583841.1_RNA	NM_003168.1	NP_003159.1	P63272	SPT4H_HUMAN	suppressor of Ty 4 homolog 1 (S. cerevisiae)	76					chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R76*(1)		large_intestine(2)|skin(2)	4	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTACTGACTCGCTGCCACTTG	0.512																																					p.R76X	NSCLC(25;723 896 19867 29219 40028)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C226T	17						.						98.0	74.0	82.0					17																	56424896		2203	4300	6503	53779895	SO:0001587	stop_gained	6827	exon3			U38817	CCDS11606.1	17q22	2014-06-23	2001-11-28		ENSG00000213246	ENSG00000213246			11467	protein-coding gene	gene with protein product		603555	"""suppressor of Ty (S.cerevisiae) 4 homolog 1"""	SUPT4H		8786137	Standard	NM_003168		Approved	SPT4H	uc002iwe.2	P63272	OTTHUMG00000178926	ENST00000225504.3:c.226C>T	17.37:g.56424896G>A	ENSP00000225504:p.Arg76*	Somatic		Capture	SOLID	Phase_I	53779895	NM_003168	B2R4X8|D3DTZ4|Q16550|Q62387|Q6ZP89	Nonsense_Mutation	SNP	ENST00000225504.3	37	CCDS11606.1	.	.	.	.	.	.	.	.	.	.	G	36	5.766107	0.96914	.	.	ENSG00000213246	ENST00000225504	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.9254	15.1272	0.72493	0.0:0.0:1.0:0.0	.	.	.	.	X	76	.	ENSP00000225504:R76X	R	-	1	2	SUPT4H1	53779895	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	6.077000	0.71275	2.722000	0.93159	0.462000	0.41574	CGA		0.512	SUPT4H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444000.1	NM_003168	
TRIM37	4591	hgsc.bcm.edu	37	17	57093004	57093004	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr17:57093004G>A	ENST00000262294.7	-	21	2802	c.2543C>T	c.(2542-2544)gCg>gTg	p.A848V	TRIM37_ENST00000376149.3_Missense_Mutation_p.A726V|TRIM37_ENST00000393065.2_Missense_Mutation_p.A814V|TRIM37_ENST00000393066.3_Missense_Mutation_p.A848V	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	848					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A848V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTTCTCAACCGCAGGCAAGCC	0.398									Mulibrey Nanism																												p.A848V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2543T	17						.						125.0	133.0	130.0					17																	57093004		2203	4300	6503	54447786	SO:0001583	missense	4591	exon21	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.2543C>T	17.37:g.57093004G>A	ENSP00000262294:p.Ala848Val	Somatic		Capture	SOLID	Phase_I	54447786	NM_001005207	Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.661961	0.29515	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	4.93	2.9	0.33743	.	0.843050	0.10578	N	0.658234	T	0.21267	0.0512	N	0.24115	0.695	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.17531	-1.0366	10	0.48119	T	0.1	-0.0368	9.163	0.37035	0.1801:0.0:0.8199:0.0	.	814;726;848	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	V	848;848;726;814	ENSP00000376785:A848V;ENSP00000262294:A848V;ENSP00000365319:A726V;ENSP00000376784:A814V	ENSP00000262294:A848V	A	-	2	0	TRIM37	54447786	0.197000	0.23362	0.437000	0.26809	0.721000	0.41392	1.507000	0.35758	1.082000	0.41137	0.313000	0.20887	GCG		0.398	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294	
TRIM37	4591	hgsc.bcm.edu	37	17	57093160	57093160	+	Splice_Site	SNP	C	C	T	rs566626073		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr17:57093160C>T	ENST00000262294.7	-	21	2646	c.2387G>A	c.(2386-2388)gGc>gAc	p.G796D	TRIM37_ENST00000376149.3_Splice_Site_p.G674D|TRIM37_ENST00000393065.2_Splice_Site_p.G762D|TRIM37_ENST00000393066.3_Splice_Site_p.G796D	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	796					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G796D(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TCCTGGGGAGCCTTCAAAAAA	0.498									Mulibrey Nanism																												p.G796D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2387A	17						.						44.0	47.0	46.0					17																	57093160		2203	4300	6503	54447942	SO:0001630	splice_region_variant	4591	exon21	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.2387-1G>A	17.37:g.57093160C>T		Somatic		Capture	SOLID	Phase_I	54447942	NM_001005207	Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.579293	0.46006	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	4.93	2.87	0.33458	.	0.119133	0.56097	D	0.000039	T	0.23094	0.0558	L	0.27053	0.805	0.41260	D	0.98677	P;B;B	0.35908	0.527;0.235;0.151	B;B;B	0.37304	0.246;0.246;0.125	T	0.06250	-1.0837	10	0.87932	D	0	.	11.2762	0.49168	0.3323:0.6677:0.0:0.0	.	762;674;796	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	D	796;796;674;762	ENSP00000376785:G796D;ENSP00000262294:G796D;ENSP00000365319:G674D;ENSP00000376784:G762D	ENSP00000262294:G796D	G	-	2	0	TRIM37	54447942	0.880000	0.30214	0.978000	0.43139	0.886000	0.51366	1.422000	0.34826	0.458000	0.26988	0.313000	0.20887	GGC		0.498	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294	Missense_Mutation
MAP3K3	4215	hgsc.bcm.edu	37	17	61710124	61710124	+	Missense_Mutation	SNP	A	A	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr17:61710124A>T	ENST00000361733.3	+	2	408	c.88A>T	c.(88-90)Acc>Tcc	p.T30S	MAP3K3_ENST00000579585.1_Missense_Mutation_p.T30S|MAP3K3_ENST00000361357.3_Missense_Mutation_p.T30S|MAP3K3_ENST00000584573.1_Missense_Mutation_p.T30S|MAP3K3_ENST00000577395.1_Missense_Mutation_p.T30S	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	30					activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)	p.T30S(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						TGGATATGAGACCATGAAGAA	0.493																																					p.T30S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A88T	17						.						110.0	99.0	103.0					17																	61710124		2203	4300	6503	59063856	SO:0001583	missense	4215	exon2			U78876	CCDS32701.1, CCDS32702.1	17q	2011-06-09				ENSG00000198909		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6855	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 3"", ""MAPK/ERK kinase kinase 3"""	602539		MEKK3		9006902	Standard	NM_002401		Approved	MAPKKK3	uc002jbf.3	Q99759		ENST00000361733.3:c.88A>T	17.37:g.61710124A>T	ENSP00000354485:p.Thr30Ser	Somatic		Capture	SOLID	Phase_I	59063856	NM_002401	B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Missense_Mutation	SNP	ENST00000361733.3	37	CCDS32702.1	.	.	.	.	.	.	.	.	.	.	A	14.30	2.493032	0.44352	.	.	ENSG00000198909	ENST00000361357;ENST00000361733	T;T	0.67523	-0.27;-0.25	6.03	3.85	0.44370	.	0.212581	0.51477	D	0.000081	T	0.49695	0.1572	L	0.28115	0.83	0.38733	D	0.953714	B;B;B	0.11235	0.0;0.0;0.004	B;B;B	0.15484	0.001;0.001;0.013	T	0.46541	-0.9184	10	0.38643	T	0.18	.	7.6587	0.28389	0.7726:0.0:0.2274:0.0	.	30;30;30	Q1PBM3;Q99759;Q99759-2	.;M3K3_HUMAN;.	S	30	ENSP00000354927:T30S;ENSP00000354485:T30S	ENSP00000354927:T30S	T	+	1	0	MAP3K3	59063856	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.871000	0.48459	1.101000	0.41535	0.533000	0.62120	ACC		0.493	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443867.1	NM_002401	
MAP3K3	4215	hgsc.bcm.edu	37	17	61762931	61762931	+	Silent	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr17:61762931T>C	ENST00000361733.3	+	8	1011	c.691T>C	c.(691-693)Ttg>Ctg	p.L231L	MAP3K3_ENST00000361357.3_Silent_p.L262L|MAP3K3_ENST00000584573.1_Silent_p.L262L|MAP3K3_ENST00000579585.1_Silent_p.L262L|MAP3K3_ENST00000577395.1_Silent_p.L231L	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	231					activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)	p.L231L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CTGCCAATCCTTGGACAGGTC	0.502																																					p.L231L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T691C	17						.						122.0	101.0	108.0					17																	61762931		2203	4300	6503	59116663	SO:0001819	synonymous_variant	4215	exon8			U78876	CCDS32701.1, CCDS32702.1	17q	2011-06-09				ENSG00000198909		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6855	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 3"", ""MAPK/ERK kinase kinase 3"""	602539		MEKK3		9006902	Standard	NM_002401		Approved	MAPKKK3	uc002jbf.3	Q99759		ENST00000361733.3:c.691T>C	17.37:g.61762931T>C		Somatic		Capture	SOLID	Phase_I	59116663	NM_002401	B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Silent	SNP	ENST00000361733.3	37	CCDS32702.1																																																																																				0.502	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443867.1	NM_002401	
AXIN2	8313	hgsc.bcm.edu	37	17	63533005	63533005	+	Missense_Mutation	SNP	C	C	T	rs578156841		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr17:63533005C>T	ENST00000307078.5	-	7	2202	c.1889G>A	c.(1888-1890)aGc>aAc	p.S630N	AXIN2_ENST00000375702.5_Intron	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	630				Missing (in Ref. 2; AAF22799). {ECO:0000305}.	bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)	p.S630N(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						CTTGGGCTTGCTCTGCCGCTC	0.657									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				C|||	1	0.000199681	0.0	0.0014	5008	,	,		13829	0.0		0.0	False		,,,				2504	0.0				p.S630N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1889A	17						.						86.0	82.0	83.0					17																	63533005		2203	4300	6503	60963467	SO:0001583	missense	8313	exon7	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000307078.5:c.1889G>A	17.37:g.63533005C>T	ENSP00000302625:p.Ser630Asn	Somatic		Capture	SOLID	Phase_I	60963467	NM_004655	Q3MJ88|Q9H3M6|Q9UH84	Missense_Mutation	SNP	ENST00000307078.5	37	CCDS11662.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.299379	0.23650	.	.	ENSG00000168646	ENST00000307078	T	0.64803	-0.12	5.24	0.899	0.19271	.	0.690841	0.16251	N	0.222682	T	0.27559	0.0677	N	0.02357	-0.585	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.08513	-1.0718	10	0.09590	T	0.72	-4.6628	5.809	0.18456	0.0:0.4827:0.2675:0.2499	.	630	Q9Y2T1	AXIN2_HUMAN	N	630	ENSP00000302625:S630N	ENSP00000302625:S630N	S	-	2	0	AXIN2	60963467	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	0.830000	0.27462	0.553000	0.29044	0.561000	0.74099	AGC		0.657	AXIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445900.1	NM_004655	
CACNG1	786	hgsc.bcm.edu	37	17	65051327	65051327	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr17:65051327G>A	ENST00000226021.3	+	3	484	c.413G>A	c.(412-414)cGa>cAa	p.R138Q		NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN	calcium channel, voltage-dependent, gamma subunit 1	138					muscle contraction (GO:0006936)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transport (GO:0006810)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.R138Q(1)		breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Diltiazem(DB00343)|Fluspirilene(DB04842)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TATCTGCTGCGACCCGCGTCC	0.637																																					p.R138Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G413A	17						.						106.0	85.0	92.0					17																	65051327		2203	4300	6503	62481789	SO:0001583	missense	786	exon3			L07738	CCDS11668.1	17q24	2008-05-02				ENSG00000108878		"""Calcium channel subunits"""	1405	protein-coding gene	gene with protein product		114209		CACNLG		8395940	Standard	NM_000727		Approved		uc002jfu.3	Q06432		ENST00000226021.3:c.413G>A	17.37:g.65051327G>A	ENSP00000226021:p.Arg138Gln	Somatic		Capture	SOLID	Phase_I	62481789	NM_000727	B2R9N3|Q14D59	Missense_Mutation	SNP	ENST00000226021.3	37	CCDS11668.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.770441	0.49680	.	.	ENSG00000108878	ENST00000226021	T	0.69306	-0.39	5.14	3.13	0.36017	.	0.072524	0.56097	D	0.000037	T	0.64023	0.2561	M	0.69823	2.125	0.28322	N	0.922191	D	0.57571	0.98	P	0.46940	0.532	T	0.58725	-0.7586	10	0.26408	T	0.33	.	7.8406	0.29395	0.2783:0.0:0.7217:0.0	.	138	Q06432	CCG1_HUMAN	Q	138	ENSP00000226021:R138Q	ENSP00000226021:R138Q	R	+	2	0	CACNG1	62481789	1.000000	0.71417	0.997000	0.53966	0.111000	0.19643	2.586000	0.46119	2.401000	0.81631	0.462000	0.41574	CGA		0.637	CACNG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447039.1		
BPTF	2186	hgsc.bcm.edu	37	17	65908824	65908824	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr17:65908824C>T	ENST00000321892.4	+	13	5263	c.5202C>T	c.(5200-5202)ggC>ggT	p.G1734G	BPTF_ENST00000335221.5_Silent_p.G1734G|BPTF_ENST00000424123.3_Silent_p.G1595G|BPTF_ENST00000306378.6_Silent_p.G1608G			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1734	Thr-rich.				anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.G1608G(1)|p.G1734G(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TAGAAAAAGGCGATAAGCAAA	0.448																																					p.G1608G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C4824T	17						.						82.0	79.0	80.0					17																	65908824		2203	4300	6503	63339286	SO:0001819	synonymous_variant	2186	exon11			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.5202C>T	17.37:g.65908824C>T		Somatic		Capture	SOLID	Phase_I	63339286	NM_182641	Q6NX67|Q7Z7D6|Q9UIG2	Silent	SNP	ENST00000321892.4	37																																																																																					0.448	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459	
ARSG	22901	hgsc.bcm.edu	37	17	66364731	66364731	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr17:66364731C>T	ENST00000448504.2	+	7	1543	c.747C>T	c.(745-747)caC>caT	p.H249H	ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_Silent_p.H85H	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	249					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.H249H(1)		NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTCTGGCCCACATGCACGTGC	0.612																																					p.H249H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C747T	17						.						86.0	85.0	85.0					17																	66364731		2203	4300	6503	63876326	SO:0001819	synonymous_variant	22901	exon7			AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"""Arylsulfatase family"""	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.747C>T	17.37:g.66364731C>T		Somatic		Capture	SOLID	Phase_I	63876326	NM_014960	Q6UXF2|Q9Y2K4	Silent	SNP	ENST00000448504.2	37	CCDS11676.1																																																																																				0.612	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448369.1	NM_014960	
SLC9A3R1	9368	hgsc.bcm.edu	37	17	72763084	72763084	+	Missense_Mutation	SNP	C	C	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr17:72763084C>A	ENST00000262613.5	+	4	962	c.767C>A	c.(766-768)cCt>cAt	p.P256H	SLC9A3R1_ENST00000413388.2_Missense_Mutation_p.P100H	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1	256					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|bile acid secretion (GO:0032782)|cellular phosphate ion homeostasis (GO:0030643)|cellular protein localization (GO:0034613)|glutathione transport (GO:0034635)|microvillus assembly (GO:0030033)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of sodium:proton antiporter activity (GO:0032416)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|protein complex assembly (GO:0006461)|regulation of excretion (GO:0044062)|regulation of protein kinase activity (GO:0045859)|regulation of sodium:proton antiporter activity (GO:0032415)|renal absorption (GO:0070293)|renal phosphate ion absorption (GO:0097291)|renal sodium ion transport (GO:0003096)|Wnt signaling pathway (GO:0016055)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|membrane raft (GO:0045121)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle (GO:0031982)	beta-2 adrenergic receptor binding (GO:0031698)|beta-catenin binding (GO:0008013)|chloride channel regulator activity (GO:0017081)|growth factor receptor binding (GO:0070851)|PDZ domain binding (GO:0030165)|phosphatase binding (GO:0019902)|protein self-association (GO:0043621)|receptor binding (GO:0005102)	p.P256H(1)		large_intestine(4)	4						GGTCCCCTGCCTGTGCCCTTC	0.542																																					p.P256H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C767A	17						.						168.0	136.0	147.0					17																	72763084		2203	4300	6503	70274679	SO:0001583	missense	9368	exon4			AF015926	CCDS11705.1	17q25.1	2014-09-04	2012-03-22		ENSG00000109062	ENSG00000109062			11075	protein-coding gene	gene with protein product		604990	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 1"", ""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 1"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1"""			9314537, 9430655	Standard	NM_004252		Approved	NHERF, EBP50	uc002jlo.4	O14745	OTTHUMG00000178863	ENST00000262613.5:c.767C>A	17.37:g.72763084C>A	ENSP00000262613:p.Pro256His	Somatic		Capture	SOLID	Phase_I	70274679	NM_004252	B3KY21|O43552|Q86WQ5	Missense_Mutation	SNP	ENST00000262613.5	37	CCDS11705.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123094	0.77436	.	.	ENSG00000109062	ENST00000262613	T	0.33654	1.4	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.63236	0.2494	M	0.82323	2.585	0.53688	D	0.999976	D	0.71674	0.998	D	0.70935	0.971	T	0.68659	-0.5350	10	0.62326	D	0.03	-24.1521	16.7506	0.85484	0.0:1.0:0.0:0.0	.	256	O14745	NHRF1_HUMAN	H	256	ENSP00000262613:P256H	ENSP00000262613:P256H	P	+	2	0	SLC9A3R1	70274679	1.000000	0.71417	0.991000	0.47740	0.835000	0.47333	5.104000	0.64584	2.465000	0.83290	0.655000	0.94253	CCT		0.542	SLC9A3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443671.1		
SLC2A4	6517	hgsc.bcm.edu	37	17	7187375	7187375	+	Missense_Mutation	SNP	A	A	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr17:7187375A>T	ENST00000317370.8	+	5	799	c.531A>T	c.(529-531)caA>caT	p.Q177H	RP1-4G17.2_ENST00000576271.1_RNA|SLC2A4_ENST00000571308.1_Missense_Mutation_p.Q177H|SLC2A4_ENST00000424875.2_Missense_Mutation_p.Q167H	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	177					amylopectin biosynthetic process (GO:0010021)|brown fat cell differentiation (GO:0050873)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|cellular response to osmotic stress (GO:0071470)|glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|membrane organization (GO:0061024)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|endomembrane system (GO:0012505)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|trans-Golgi network transport vesicle (GO:0030140)|vesicle membrane (GO:0012506)	D-glucose transmembrane transporter activity (GO:0055056)|glucose transmembrane transporter activity (GO:0005355)	p.Q177H(1)		breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						CGCTCAACCAACTGGCCATTG	0.622																																					p.Q177H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A531T	17						.						39.0	38.0	38.0					17																	7187375		2203	4300	6503	7128099	SO:0001583	missense	6517	exon5			M20747	CCDS11097.1	17p13	2013-05-22			ENSG00000181856	ENSG00000181856		"""Solute carriers"""	11009	protein-coding gene	gene with protein product		138190		GLUT4			Standard	NM_001042		Approved		uc002gfp.3	P14672	OTTHUMG00000102181	ENST00000317370.8:c.531A>T	17.37:g.7187375A>T	ENSP00000320935:p.Gln177His	Somatic		Capture	SOLID	Phase_I	7128099	NM_001042	Q05BQ3|Q14CX2	Missense_Mutation	SNP	ENST00000317370.8	37	CCDS11097.1	.	.	.	.	.	.	.	.	.	.	A	18.93	3.727294	0.69074	.	.	ENSG00000181856	ENST00000317370;ENST00000424875	T;T	0.80123	-1.34;-1.34	5.76	-0.725	0.11174	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.90899	0.7140	H	0.96111	3.77	0.47905	D	0.999541	D;D	0.76494	0.999;0.998	D;D	0.77557	0.99;0.972	D	0.89831	0.3996	10	0.72032	D	0.01	.	10.1162	0.42591	0.4054:0.0:0.5946:0.0	.	177;167	P14672;F5H081	GTR4_HUMAN;.	H	177;167	ENSP00000320935:Q177H;ENSP00000396887:Q167H	ENSP00000320935:Q177H	Q	+	3	2	SLC2A4	7128099	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	1.169000	0.31871	-0.110000	0.12022	0.533000	0.62120	CAA		0.622	SLC2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220031.3		
CHRNB1	1140	hgsc.bcm.edu	37	17	7350401	7350401	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr17:7350401C>T	ENST00000306071.2	+	5	460	c.393C>T	c.(391-393)gtC>gtT	p.V131V	CHRNB1_ENST00000576360.1_Silent_p.V59V|CHRNB1_ENST00000536404.2_Silent_p.V59V|RP11-104H15.10_ENST00000575331.1_RNA	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	131					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|neurological system process (GO:0050877)|neuromuscular synaptic transmission (GO:0007274)|postsynaptic membrane organization (GO:0001941)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|ligand-gated ion channel activity (GO:0015276)	p.V131V(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	ACATTAGCGTCGTGGTGTCCT	0.632																																					p.V131V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C393T	17						.						88.0	81.0	84.0					17																	7350401		2203	4300	6503	7291125	SO:0001819	synonymous_variant	1140	exon5			X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1961	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 1 (muscle)"""	100710	"""cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)"""	CHRNB			Standard	NM_000747		Approved		uc002ghb.3	P11230	OTTHUMG00000108139	ENST00000306071.2:c.393C>T	17.37:g.7350401C>T		Somatic		Capture	SOLID	Phase_I	7291125	NM_000747	B7Z5H1|Q8IZ46|Q96FB8	Silent	SNP	ENST00000306071.2	37	CCDS11106.1																																																																																				0.632	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226942.3		
SLC25A19	60386	hgsc.bcm.edu	37	17	73269615	73269615	+	Missense_Mutation	SNP	G	G	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr17:73269615G>T	ENST00000402418.3	-	6	1789	c.880C>A	c.(880-882)Ctc>Atc	p.L294I	RP11-649A18.12_ENST00000585075.1_RNA|MIF4GD_ENST00000245551.5_5'Flank|RP11-649A18.12_ENST00000582668.1_RNA|MIF4GD_ENST00000577542.1_5'Flank|SLC25A19_ENST00000416858.2_Missense_Mutation_p.L294I|SLC25A19_ENST00000320362.3_Missense_Mutation_p.L294I|SLC25A19_ENST00000580994.1_Missense_Mutation_p.L294I|MIF4GD_ENST00000325102.8_5'Flank|SLC25A19_ENST00000375261.4_Missense_Mutation_p.L237I|MIF4GD_ENST00000578305.1_5'Flank|MIF4GD_ENST00000579297.1_5'Flank|SLC25A19_ENST00000442286.2_Missense_Mutation_p.L294I|MIF4GD_ENST00000580571.1_5'Flank			Q9HC21	TPC_HUMAN	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19	294					deoxynucleotide transport (GO:0030302)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	deoxynucleotide transmembrane transporter activity (GO:0030233)	p.L294I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			CCTGTGGAGAGGGCAGCCTTC	0.562																																					p.L294I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C880A	17						.						82.0	81.0	82.0					17																	73269615		2203	4300	6503	70781210	SO:0001583	missense	60386	exon8				CCDS11720.1	17q25.1	2013-05-22	2007-03-08		ENSG00000125454	ENSG00000125454		"""Solute carriers"""	14409	protein-coding gene	gene with protein product		606521	"""solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19"", ""microcephaly, Amish"""	MCPHA		11474176, 11226231, 19798730	Standard	NM_021734		Approved	DNC, MUP1, TPC	uc002jnw.4	Q9HC21		ENST00000402418.3:c.880C>A	17.37:g.73269615G>T	ENSP00000385312:p.Leu294Ile	Somatic		Capture	SOLID	Phase_I	70781210	NM_021734	E9PF74|Q6V9R7	Missense_Mutation	SNP	ENST00000402418.3	37	CCDS11720.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825747	0.32237	.	.	ENSG00000125454	ENST00000416858;ENST00000442286;ENST00000320362;ENST00000402418;ENST00000375261	T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23	5.45	0.665	0.17896	Mitochondrial carrier domain (2);	0.363968	0.29053	N	0.013288	T	0.57198	0.2037	N	0.25789	0.76	0.23454	N	0.997641	B;B	0.18013	0.024;0.025	B;B	0.23852	0.038;0.049	T	0.33394	-0.9870	10	0.27785	T	0.31	-29.5412	1.5065	0.02487	0.3382:0.1277:0.387:0.147	.	237;294	E9PF74;Q9HC21	.;TPC_HUMAN	I	294;294;294;294;237	ENSP00000397818:L294I;ENSP00000402202:L294I;ENSP00000319574:L294I;ENSP00000385312:L294I;ENSP00000364410:L237I	ENSP00000319574:L294I	L	-	1	0	SLC25A19	70781210	0.008000	0.16893	0.793000	0.32043	0.951000	0.60555	0.105000	0.15333	0.291000	0.22468	-0.171000	0.13296	CTC		0.562	SLC25A19-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447282.1	NM_021734	
TP53	7157	hgsc.bcm.edu	37	17	7577139	7577139	+	Missense_Mutation	SNP	G	G	A	rs55832599		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr17:7577139G>A	ENST00000269305.4	-	8	988	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W	TP53_ENST00000455263.2_Missense_Mutation_p.R267W|TP53_ENST00000420246.2_Missense_Mutation_p.R267W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R267W|TP53_ENST00000445888.2_Missense_Mutation_p.R267W|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	267	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599). {ECO:0000269|PubMed:16959974}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R267W(25)|p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.R267G(1)|p.R267R(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AAGCTGTTCCGTCCCAGTAGA	0.522		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											p.R267W	Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53,vulva,NS,Substitution - Missense,-2	.	50	Substitution - Missense(26)|Deletion - In frame(9)|Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(3)|Substitution - coding silent(1)	large_intestine(9)|central_nervous_system(9)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|stomach(3)|liver(3)|upper_aerodigestive_tract(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thymus(1)|breast(1)|skin(1)|eye(1)|prostate(1)	c.C799T	17						.						51.0	45.0	47.0					17																	7577139		2203	4300	6503	7517864	SO:0001583	missense	7157	exon8	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.799C>T	17.37:g.7577139G>A	ENSP00000269305:p.Arg267Trp	Somatic		Capture	SOLID	Phase_I	7517864	NM_001126114	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307537	0.81247	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	5.13	4.15	0.48705	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.058834	0.64402	D	0.000001	D	0.99862	0.9935	M	0.90759	3.145	0.58432	D	0.999999	D;D;D;P	0.89917	0.974;1.0;0.979;0.876	P;D;P;P	0.91635	0.703;0.999;0.868;0.728	D	0.96589	0.9436	10	0.87932	D	0	-8.7531	12.741	0.57253	0.0:0.0:0.8346:0.1654	rs55832599	267;267;267;267	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	267;267;267;267;267;256;135	ENSP00000352610:R267W;ENSP00000269305:R267W;ENSP00000398846:R267W;ENSP00000391127:R267W;ENSP00000391478:R267W;ENSP00000425104:R135W	ENSP00000269305:R267W	R	-	1	2	TP53	7517864	0.998000	0.40836	0.876000	0.34364	0.812000	0.45895	2.565000	0.45939	1.360000	0.45960	0.462000	0.41574	CGG		0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
USP36	57602	hgsc.bcm.edu	37	17	76795039	76795039	+	Missense_Mutation	SNP	C	C	T	rs34458438	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr17:76795039C>T	ENST00000542802.3	-	19	3634	c.3191G>A	c.(3190-3192)cGg>cAg	p.R1064Q	USP36_ENST00000449938.2_Missense_Mutation_p.R669Q|USP36_ENST00000312010.6_Missense_Mutation_p.R1064Q			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	1062					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.R1064Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GGTCTCAGTCCGGGCCTGTCT	0.587													c|||	34	0.00678914	0.0257	0.0	5008	,	,		19712	0.0		0.0	False		,,,				2504	0.0				p.R1064Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3191A	17						.	-	GLN/ARG	85,4321	72.0+/-110.0	1,83,2119	303.0	240.0	262.0		3191	1.8	0.4	17	dbSNP_126	262	2,8598	2.2+/-6.3	0,2,4298	yes	missense	USP36	NM_025090.3	43	1,85,6417	TT,TC,CC		0.0233,1.9292,0.6689	benign	1064/1124	76795039	87,12919	2203	4300	6503	74306634	SO:0001583	missense	57602	exon19			AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.3191G>A	17.37:g.76795039C>T	ENSP00000441214:p.Arg1064Gln	Somatic		Capture	SOLID	Phase_I	74306634	NM_025090	Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP	ENST00000542802.3	37	CCDS32755.1	11	0.005036630036630037	11	0.022357723577235773	0	0.0	0	0.0	0	0.0	c	5.594	0.294414	0.10567	0.019292	2.33E-4	ENSG00000055483	ENST00000312010;ENST00000449938;ENST00000542802	T;T;T	0.40476	1.03;1.03;1.03	5.34	1.75	0.24633	.	0.645451	0.15372	N	0.265794	T	0.23649	0.0572	L	0.58669	1.825	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.11329	0.006;0.003	T	0.22068	-1.0227	10	0.38643	T	0.18	-5.1962	13.0435	0.58913	0.0:0.7699:0.0:0.2301	rs34458438	1064;669	Q9P275-2;E9PEW0	.;.	Q	1064;669;1064	ENSP00000310590:R1064Q;ENSP00000401119:R669Q;ENSP00000441214:R1064Q	ENSP00000310590:R1064Q	R	-	2	0	USP36	74306634	0.000000	0.05858	0.396000	0.26296	0.002000	0.02628	-0.697000	0.05098	0.262000	0.21774	-1.185000	0.01705	CGG		0.587	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090	
ABR	29	hgsc.bcm.edu	37	17	961996	961996	+	Missense_Mutation	SNP	G	G	A	rs200250455		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr17:961996G>A	ENST00000302538.5	-	11	1440	c.1294C>T	c.(1294-1296)Cgg>Tgg	p.R432W	ABR_ENST00000291107.2_Missense_Mutation_p.R395W|ABR_ENST00000544583.2_Missense_Mutation_p.R386W|ABR_ENST00000574437.1_Missense_Mutation_p.R386W|ABR_ENST00000536794.2_Missense_Mutation_p.R214W|ABR_ENST00000573895.1_5'Flank	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	432	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R432W(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		TTTCCATTCCGATTGTGGATC	0.582											OREG0024068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R432W	Esophageal Squamous(197;2016 2115 4129 29033 46447)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1294T	17						.						90.0	81.0	84.0					17																	961996		2203	4300	6503	908746	SO:0001583	missense	29	exon11			L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.1294C>T	17.37:g.961996G>A	ENSP00000303909:p.Arg432Trp	Somatic	592	Capture	SOLID	Phase_I	908746	NM_021962	B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	ENST00000302538.5	37	CCDS10999.1	.	.	.	.	.	.	.	.	.	.	g	20.9	4.064227	0.76187	.	.	ENSG00000159842	ENST00000302538;ENST00000544583;ENST00000291107;ENST00000536794	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.68	5.68	0.88126	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.160682	0.47455	D	0.000240	T	0.45696	0.1355	L	0.58810	1.83	0.30494	N	0.771034	D;D;D	0.76494	0.997;0.997;0.999	P;P;D	0.66979	0.893;0.805;0.948	T	0.49331	-0.8951	10	0.87932	D	0	.	13.7476	0.62885	0.0:0.0:0.8463:0.1536	.	214;395;432	B7Z683;Q12979-2;Q12979	.;.;ABR_HUMAN	W	432;386;395;214	ENSP00000303909:R432W;ENSP00000442048:R386W;ENSP00000291107:R395W;ENSP00000437429:R214W	ENSP00000291107:R395W	R	-	1	2	ABR	908746	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	6.859000	0.75467	2.690000	0.91761	0.466000	0.42574	CGG		0.582	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4		
CHD3	1107	hgsc.bcm.edu	37	17	7814810	7814812	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	GAA	GAA	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr17:7814810_7814812delGAA	ENST00000330494.7	+	40	6060_6062	c.5910_5912delGAA	c.(5908-5913)gtgaag>gtg	p.K1972del	AC025335.1_ENST00000324348.7_RNA|CHD3_ENST00000358181.4_In_Frame_Del_p.K1938del|CHD3_ENST00000380358.4_In_Frame_Del_p.K2031del	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1972					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.K1972delK(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CAGTGCTTGTGAAGAAGGAGAAG	0.547																																					p.1936_1937del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.5808_5810del	17						.																																			7755537	SO:0001651	inframe_deletion	1107	exon39			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.5910_5912delGAA	17.37:g.7814813_7814815delGAA	ENSP00000332628:p.Lys1972del	Somatic		Capture	SOLID	Phase_I	7755535	NM_005852	D3DTQ9|E9PG89|Q9Y4I0	In_Frame_Del	DEL	ENST00000330494.7	37	CCDS32554.1																																																																																				0.547	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273	
ALOX15B	247	hgsc.bcm.edu	37	17	7948210	7948210	+	Missense_Mutation	SNP	A	A	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr17:7948210A>T	ENST00000380183.4	+	6	879	c.740A>T	c.(739-741)aAc>aTc	p.N247I	ALOX15B_ENST00000572022.1_Missense_Mutation_p.N247I|ALOX15B_ENST00000573359.1_Missense_Mutation_p.N247I|ALOX15B_ENST00000380173.2_Missense_Mutation_p.N247I	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	247	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)	p.N247I(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						AATGGTCTCAACCCTGTCCTG	0.612																																					p.N247I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A740T	17						.						138.0	98.0	111.0					17																	7948210		2203	4300	6503	7888935	SO:0001583	missense	247	exon6			U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"""Arachidonate lipoxygenases"""	434	protein-coding gene	gene with protein product		603697	"""arachidonate 15-lipoxygenase, second type"""			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.740A>T	17.37:g.7948210A>T	ENSP00000369530:p.Asn247Ile	Somatic		Capture	SOLID	Phase_I	7888935	NM_001039130	D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Missense_Mutation	SNP	ENST00000380183.4	37	CCDS11128.1	.	.	.	.	.	.	.	.	.	.	A	17.83	3.485999	0.63962	.	.	ENSG00000179593	ENST00000380173;ENST00000339694;ENST00000380183	D;D	0.96365	-3.99;-3.99	4.16	3.07	0.35406	Lipoxygenase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.98544	0.9514	H	0.97340	3.985	0.58432	D	0.999993	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.999	D	0.97746	1.0211	10	0.87932	D	0	-33.1641	8.785	0.34814	0.9058:0.0:0.0942:0.0	.	247;247;247;247	B4DNW8;O15296-2;O15296-4;O15296	.;.;.;LX15B_HUMAN	I	247	ENSP00000369520:N247I;ENSP00000369530:N247I	ENSP00000344337:N247I	N	+	2	0	ALOX15B	7888935	1.000000	0.71417	0.997000	0.53966	0.646000	0.38490	5.958000	0.70330	0.583000	0.29574	0.402000	0.26972	AAC		0.612	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226985.2		
NDEL1	81565	hgsc.bcm.edu	37	17	8350198	8350198	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr17:8350198G>A	ENST00000334527.7	+	4	564	c.367G>A	c.(367-369)Gac>Aac	p.D123N	NDEL1_ENST00000299734.7_Missense_Mutation_p.D123N|NDEL1_ENST00000402554.3_Missense_Mutation_p.D123N|NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000380025.4_Missense_Mutation_p.D123N	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	123	Interaction with KATNB1. {ECO:0000250}.|Required for interaction with PAFAH1B1.|Self-association. {ECO:0000250}.				activation of Cdc42 GTPase activity (GO:0032864)|central nervous system neuron axonogenesis (GO:0021955)|centrosome localization (GO:0051642)|cerebral cortex radially oriented cell migration (GO:0021799)|chromosome segregation (GO:0007059)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|neurofilament cytoskeleton organization (GO:0060052)|neuron migration (GO:0001764)|neuron projection extension (GO:1990138)|nuclear envelope disassembly (GO:0051081)|positive regulation of axon extension (GO:0045773)|positive regulation of axon regeneration (GO:0048680)|retrograde axon cargo transport (GO:0008090)|vesicle transport along microtubule (GO:0047496)	axon hillock (GO:0043203)|cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|neurofilament cytoskeleton (GO:0060053)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)	oligopeptidase activity (GO:0070012)	p.D123N(1)		large_intestine(6)|lung(4)|skin(3)	13						GCAGGCCAACGACGACCTGGA	0.433																																					p.D123N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G367A	17						.						84.0	80.0	82.0					17																	8350198		2203	4300	6503	8290923	SO:0001583	missense	81565	exon4			AF182078	CCDS11143.1, CCDS32564.1	17p13.1	2013-08-06	2013-08-06	2003-04-16	ENSG00000166579	ENSG00000166579			17620	protein-coding gene	gene with protein product		607538	"""nudE nuclear distribution gene E homolog (A. nidulans)-like 1"", ""nudE nuclear distribution E homolog (A. nidulans)-like 1"""			11163260, 11163259	Standard	NM_001025579		Approved	NUDEL, MITAP1, NDE1L1, NDE2	uc002glj.4	Q9GZM8	OTTHUMG00000108193	ENST00000334527.7:c.367G>A	17.37:g.8350198G>A	ENSP00000333982:p.Asp123Asn	Somatic		Capture	SOLID	Phase_I	8290923	NM_001025579	B3KP93|D3DTS0|J3QT32|Q86T80|Q8TAR7|Q9UH50	Missense_Mutation	SNP	ENST00000334527.7	37	CCDS11143.1	.	.	.	.	.	.	.	.	.	.	G	36	5.855751	0.97030	.	.	ENSG00000166579	ENST00000299734;ENST00000380025;ENST00000402554;ENST00000334527	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.75627	0.3875	M	0.91663	3.23	0.80722	D	1	D;D	0.63880	0.993;0.993	P;P	0.46758	0.526;0.526	T	0.82550	-0.0401	9	0.56958	D	0.05	-5.853	18.7659	0.91873	0.0:0.0:1.0:0.0	.	123;123	Q9GZM8;A6NIZ0	NDEL1_HUMAN;.	N	123;123;178;123	.	ENSP00000299734:D123N	D	+	1	0	NDEL1	8290923	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.429000	0.97481	2.677000	0.91161	0.561000	0.74099	GAC		0.433	NDEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226999.2	NM_030808	
GAS7	8522	hgsc.bcm.edu	37	17	9862569	9862569	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr17:9862569G>A	ENST00000432992.2	-	5	635	c.475C>T	c.(475-477)Ctg>Ttg	p.L159L	GAS7_ENST00000323816.4_Silent_p.L99L|GAS7_ENST00000396115.2_Silent_p.L95L|GAS7_ENST00000583882.1_Silent_p.L19L|GAS7_ENST00000542249.1_Silent_p.L95L|GAS7_ENST00000579158.1_Silent_p.L95L|GAS7_ENST00000437099.2_Silent_p.L95L|GAS7_ENST00000540214.1_Silent_p.L95L|GAS7_ENST00000578655.1_5'UTR|GAS7_ENST00000580865.1_Silent_p.L19L|GAS7_ENST00000585266.1_Silent_p.L99L	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	159					actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L159L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						GAGGATCCCAGGTTCTGGGGA	0.562			T	MLL	AML*						OREG0024172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L19L			Dom	yes		17	17p	8522	growth arrest-specific 7		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C55T	17						.						138.0	108.0	118.0					17																	9862569		2203	4300	6503	9803294	SO:0001819	synonymous_variant	8522	exon1			AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.475C>T	17.37:g.9862569G>A		Somatic	660	Capture	SOLID	Phase_I	9803294	NM_003644	A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Silent	SNP	ENST00000432992.2	37	CCDS11152.1																																																																																				0.562	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433	
TEX14	56155	hgsc.bcm.edu	37	17	56638928	56638928	+	Silent	SNP	T	T	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr17:56638928T>A	ENST00000240361.8	-	30	4333	c.4248A>T	c.(4246-4248)ccA>ccT	p.P1416P	TEX14_ENST00000389934.3_Silent_p.P1410P|TEX14_ENST00000349033.5_Silent_p.P1370P|TEX14_ENST00000584699.1_5'UTR			Q8IWB6	TEX14_HUMAN	testis expressed 14	1416					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCTCCTCAGGTGGCTGCAGCC	0.498																																					p.P1410P												.	.	0			c.A4230T	17						.						143.0	138.0	140.0					17																	56638928		2203	4300	6503	53993927	SO:0001819	synonymous_variant	56155	exon30			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.4248A>T	17.37:g.56638928T>A		Somatic		Capture	SOLID	Phase_I	53993927	NM_198393	A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Silent	SNP	ENST00000240361.8	37	CCDS56042.1																																																																																				0.498	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1		
EIF4A3	9775	hgsc.bcm.edu	37	17	78113919	78113919	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr17:78113919G>A	ENST00000269349.3	-	5	614	c.393C>T	c.(391-393)gaC>gaT	p.D131D		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	131	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cytokine-mediated signaling pathway (GO:0019221)|embryonic cranial skeleton morphogenesis (GO:0048701)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|mRNA binding (GO:0003729)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)	p.D131D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			CATTCATGTAGTCACCGAGAG	0.527																																					p.D131D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C393T	17						.						93.0	75.0	81.0					17																	78113919		2203	4300	6503	75728514	SO:0001819	synonymous_variant	9775	exon5			BC004386	CCDS11767.1	17q25.3	2010-02-10	2010-02-10	2006-11-27		ENSG00000141543		"""DEAD-boxes"""	18683	protein-coding gene	gene with protein product		608546	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 48"", ""eukaryotic translation initiation factor 4A, isoform 3"""	DDX48		10623621, 14730019	Standard	NM_014740		Approved	KIAA0111, EIF4AIII	uc002jxs.3	P38919		ENST00000269349.3:c.393C>T	17.37:g.78113919G>A		Somatic		Capture	SOLID	Phase_I	75728514	NM_014740	Q15033|Q6IBQ2|Q96A18	Silent	SNP	ENST00000269349.3	37	CCDS11767.1																																																																																				0.527	EIF4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437446.1	NM_014740	
IGSF5	150084	hgsc.bcm.edu	37	21	41151166	41151166	+	Missense_Mutation	SNP	T	T	C	rs148238696	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr21:41151166T>C	ENST00000380588.4	+	5	971	c.868T>C	c.(868-870)Tgc>Cgc	p.C290R	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	290	Cys-rich.				single organismal cell-cell adhesion (GO:0016337)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.C290R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				ctgctgctgctgccgccgtcg	0.458													T|||	8	0.00159744	0.0053	0.0	5008	,	,		16366	0.0		0.001	False		,,,				2504	0.0				p.C290R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T868C	21						.	T	ARG/CYS	5,4401	9.9+/-24.2	0,5,2198	62.0	59.0	60.0		868	-0.0	0.0	21	dbSNP_134	60	0,8600		0,0,4300	yes	missense	IGSF5	NM_001080444.1	180	0,5,6498	CC,CT,TT		0.0,0.1135,0.0384	benign	290/408	41151166	5,13001	2203	4300	6503	40073036	SO:0001583	missense	150084	exon5				CCDS33562.1	21q22.2	2013-01-29			ENSG00000183067	ENSG00000183067		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5952	protein-coding gene	gene with protein product	"""junctional adhesion molecule 4"""	610638					Standard	NM_001080444		Approved	JAM4	uc002yyo.3	Q9NSI5	OTTHUMG00000086724	ENST00000380588.4:c.868T>C	21.37:g.41151166T>C	ENSP00000369962:p.Cys290Arg	Somatic		Capture	SOLID	Phase_I	40073036	NM_001080444		Missense_Mutation	SNP	ENST00000380588.4	37	CCDS33562.1	8	0.003663003663003663	7	0.014227642276422764	0	0.0	0	0.0	1	0.0013192612137203166	T	4.387	0.071464	0.08436	0.001135	0.0	ENSG00000183067	ENST00000380588	T	0.08370	3.1	1.19	-0.0326	0.13904	.	0.299113	0.37012	N	0.002294	T	0.02267	0.0070	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43180	-0.9407	10	0.11182	T	0.66	-22.2532	3.26	0.06845	0.0:0.2624:0.0:0.7376	.	290	Q9NSI5	IGSF5_HUMAN	R	290	ENSP00000369962:C290R	ENSP00000369962:C290R	C	+	1	0	IGSF5	40073036	0.020000	0.18652	0.004000	0.12327	0.005000	0.04900	0.026000	0.13599	-0.056000	0.13221	-0.736000	0.03550	TGC		0.458	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195005.1		
MX1	4599	hgsc.bcm.edu	37	21	42807851	42807851	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr21:42807851G>A	ENST00000398600.2	+	8	1218	c.193G>A	c.(193-195)Gag>Aag	p.E65K	MX1_ENST00000455164.2_Missense_Mutation_p.E65K|MX1_ENST00000288383.6_Missense_Mutation_p.E65K|MX1_ENST00000398598.3_Missense_Mutation_p.E65K	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	65					apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.E65K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				TCTAGGTGTGGAGCAGGACCT	0.622																																					p.E65K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G193A	21						.						86.0	85.0	85.0					21																	42807851		2203	4300	6503	41729721	SO:0001583	missense	4599	exon8				CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"""interferon-inducible protein p78"""	147150	"""myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)"", ""myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"""			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.193G>A	21.37:g.42807851G>A	ENSP00000381601:p.Glu65Lys	Somatic		Capture	SOLID	Phase_I	41729721	NM_001144925	B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Missense_Mutation	SNP	ENST00000398600.2	37	CCDS13673.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464525	0.84425	.	.	ENSG00000157601	ENST00000398600;ENST00000413778;ENST00000398598;ENST00000455164;ENST00000424365;ENST00000417963;ENST00000441677;ENST00000288383	D;D;D;D;D;D	0.95272	-2.62;-2.62;-2.62;-3.66;-3.66;-2.57	4.48	4.48	0.54585	Dynamin, GTPase domain (1);	0.143817	0.64402	N	0.000009	D	0.93684	0.7982	M	0.64567	1.98	0.58432	D	0.999999	P	0.51351	0.944	P	0.44447	0.45	D	0.94390	0.7613	10	0.59425	D	0.04	-49.0749	16.5923	0.84769	0.0:0.0:1.0:0.0	.	65	P20591	MX1_HUMAN	K	65	ENSP00000381601:E65K;ENSP00000381599:E65K;ENSP00000410523:E65K;ENSP00000400923:E65K;ENSP00000402215:E65K;ENSP00000288383:E65K	ENSP00000288383:E65K	E	+	1	0	MX1	41729721	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.419000	0.90253	2.445000	0.82738	0.561000	0.74099	GAG		0.622	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195161.2		
RIPK4	54101	hgsc.bcm.edu	37	21	43176892	43176892	+	Silent	SNP	G	G	A	rs55798804	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr21:43176892G>A	ENST00000352483.2	-	2	331	c.267C>T	c.(265-267)cgC>cgT	p.R89R	RIPK4_ENST00000542057.1_Silent_p.R26R|RIPK4_ENST00000544709.1_Silent_p.R26R|RIPK4_ENST00000332512.3_Silent_p.R89R			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	89	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R89R(2)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CGACAGGTTCGCGGCAGATGC	0.547													G|||	3	0.000599042	0.0	0.0043	5008	,	,		20378	0.0		0.0	False		,,,				2504	0.0				p.R89R												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C267T	21						.	G		1,4405	2.1+/-5.4	0,1,2202	78.0	76.0	77.0		267	-9.9	0.0	21	dbSNP_129	77	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	RIPK4	NM_020639.2		0,6,6497	AA,AG,GG		0.0581,0.0227,0.0461		89/785	43176892	6,13000	2203	4300	6503	42049961	SO:0001819	synonymous_variant	54101	exon2			AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.267C>T	21.37:g.43176892G>A		Somatic		Capture	SOLID	Phase_I	42049961	NM_020639	Q96KH0	Silent	SNP	ENST00000352483.2	37																																																																																					0.547	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639	
ZBTB21	49854	hgsc.bcm.edu	37	21	43414134	43414134	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr21:43414134C>T	ENST00000310826.5	-	3	254	c.71G>A	c.(70-72)cGt>cAt	p.R24H	ZBTB21_ENST00000398511.3_Missense_Mutation_p.R24H|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398505.3_Missense_Mutation_p.R24H|ZBTB21_ENST00000398499.1_Missense_Mutation_p.R24H	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	24					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)	p.R24H(1)									TCCTTTGAGACGCTCCTCATT	0.458																																					p.R24H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G71A	21						.						137.0	128.0	131.0					21																	43414134		2203	4300	6503	42287203	SO:0001583	missense	49854	exon3			AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.71G>A	21.37:g.43414134C>T	ENSP00000308759:p.Arg24His	Somatic		Capture	SOLID	Phase_I	42287203	NM_001098403	Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	C	30	5.052775	0.93793	.	.	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511;ENST00000425521;ENST00000449949;ENST00000398497	T;T;T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72;1.75;1.75	5.85	5.85	0.93711	BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.88392	0.6424	M	0.91818	3.245	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89956	0.4083	10	0.87932	D	0	-29.2079	20.1577	0.98120	0.0:1.0:0.0:0.0	.	24;24	Q9ULJ3-2;Q9ULJ3	.;ZN295_HUMAN	H	24	ENSP00000381517:R24H;ENSP00000308759:R24H;ENSP00000381512:R24H;ENSP00000381523:R24H;ENSP00000387788:R24H;ENSP00000395186:R24H;ENSP00000381510:R24H	ENSP00000308759:R24H	R	-	2	0	ZNF295	42287203	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	7.327000	0.79147	2.767000	0.95098	0.655000	0.94253	CGT		0.458	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727	
TFF2	7032	hgsc.bcm.edu	37	21	43771051	43771051	+	Missense_Mutation	SNP	C	C	T	rs142559683		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr21:43771051C>T	ENST00000291526.4	-	1	186	c.16G>A	c.(16-18)Gcc>Acc	p.A6T	TFF2_ENST00000475297.1_5'UTR	NM_005423.4	NP_005414.1	Q03403	TFF2_HUMAN	trefoil factor 2	6				MGRRDAQLLAALLVLGLCA -> RHGTARRPAPGSAPRPGA MC (in Ref. 1). {ECO:0000305}.	calcium-mediated signaling (GO:0019722)|chemokine-mediated signaling pathway (GO:0070098)|digestion (GO:0007586)|negative regulation of gastric acid secretion (GO:0060455)|negative regulation of inflammatory response (GO:0050728)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.A6T(1)		large_intestine(1)|pancreas(1)|urinary_tract(1)	3						AGGAGCTGGGCGTCTCGCCGT	0.562																																					p.A6T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G16A	21						.	C	THR/ALA	0,4406		0,0,2203	48.0	48.0	48.0		16	-2.9	0.0	21	dbSNP_134	48	2,8598	2.2+/-6.3	0,2,4298	no	missense	TFF2	NM_005423.4	58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	6/130	43771051	2,13004	2203	4300	6503	42644120	SO:0001583	missense	7032	exon1				CCDS13684.1	21q22.3	2008-07-28	2008-07-28		ENSG00000160181	ENSG00000160181			11756	protein-coding gene	gene with protein product		182590	"""spasmolytic protein 1"""	SML1		1505966, 9043862	Standard	NM_005423		Approved		uc002zaw.3	Q03403	OTTHUMG00000086797	ENST00000291526.4:c.16G>A	21.37:g.43771051C>T	ENSP00000291526:p.Ala6Thr	Somatic		Capture	SOLID	Phase_I	42644120	NM_005423	Q15854	Missense_Mutation	SNP	ENST00000291526.4	37	CCDS13684.1	.	.	.	.	.	.	.	.	.	.	C	5.437	0.265727	0.10294	0.0	2.33E-4	ENSG00000160181	ENST00000291526	T	0.31510	1.49	4.3	-2.87	0.05700	.	1.323920	0.05257	N	0.515138	T	0.17916	0.0430	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.20438	-1.0275	9	.	.	.	-4.4448	2.5756	0.04806	0.1374:0.225:0.4426:0.195	.	6	Q03403	TFF2_HUMAN	T	6	ENSP00000291526:A6T	.	A	-	1	0	TFF2	42644120	0.000000	0.05858	0.000000	0.03702	0.243000	0.25628	-2.342000	0.01099	-0.411000	0.07530	0.462000	0.41574	GCC		0.562	TFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195355.1	NM_005423	
TRPM2	7226	hgsc.bcm.edu	37	21	45811174	45811174	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr21:45811174C>T	ENST00000397928.1	+	11	1905	c.1460C>T	c.(1459-1461)aCg>aTg	p.T487M	TRPM2_ENST00000300482.5_Missense_Mutation_p.T487M|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.T487M|TRPM2_ENST00000397932.2_Missense_Mutation_p.T487M	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	487					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)	p.T487M(1)		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						CTGCACCCCACGATGACAGCT	0.537																																					p.T487M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1460T	21						.						115.0	82.0	93.0					21																	45811174		2203	4300	6503	44635602	SO:0001583	missense	7226	exon11			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.1460C>T	21.37:g.45811174C>T	ENSP00000381023:p.Thr487Met	Somatic		Capture	SOLID	Phase_I	44635602	NM_003307	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	C	6.417	0.445154	0.12164	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	5.23	-4.44	0.03557	.	0.395633	0.28612	N	0.014738	T	0.09555	0.0235	N	0.00729	-1.24	0.09310	N	0.999994	B;B	0.13594	0.008;0.002	B;B	0.06405	0.002;0.002	T	0.25467	-1.0131	10	0.33940	T	0.23	-9.877	11.6657	0.51372	0.0:0.276:0.0:0.724	.	487;487	E9PGK7;O94759	.;TRPM2_HUMAN	M	487	ENSP00000300482:T487M;ENSP00000381023:T487M;ENSP00000300481:T487M;ENSP00000381026:T487M	ENSP00000300481:T487M	T	+	2	0	TRPM2	44635602	1.000000	0.71417	0.361000	0.25849	0.434000	0.31775	1.579000	0.36536	-1.123000	0.02940	-0.940000	0.02684	ACG		0.537	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307	
ERCC4	2072	hgsc.bcm.edu	37	16	14029092	14029092	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr16:14029092C>T	ENST00000311895.7	+	8	1312	c.1303C>T	c.(1303-1305)Ctc>Ttc	p.L435F	CTD-2135D7.2_ENST00000570663.1_RNA|CTD-2135D7.2_ENST00000575137.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	435	Helicase-like.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.L435F(1)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						CTTATTGAGGCTCTACAGGAA	0.413			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																												p.L435F		yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1303T	16						.						111.0	110.0	110.0					16																	14029092		2197	4300	6497	13936593	SO:0001583	missense	2072	exon8	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.1303C>T	16.37:g.14029092C>T	ENSP00000310520:p.Leu435Phe	Somatic		Capture	SOLID	Phase_I	13936593	NM_005236	A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	ENST00000311895.7	37	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635175	0.67130	.	.	ENSG00000175595	ENST00000311895;ENST00000389138	T	0.60548	0.18	5.77	4.79	0.61399	.	0.054676	0.85682	D	0.000000	T	0.63745	0.2537	M	0.75777	2.31	0.80722	D	1	P	0.45902	0.868	P	0.45829	0.494	T	0.68981	-0.5266	10	0.56958	D	0.05	-21.3344	15.3087	0.74014	0.1402:0.8598:0.0:0.0	.	435	Q92889	XPF_HUMAN	F	435;424	ENSP00000310520:L435F	ENSP00000310520:L435F	L	+	1	0	ERCC4	13936593	1.000000	0.71417	0.967000	0.41034	0.991000	0.79684	5.569000	0.67391	2.726000	0.93360	0.650000	0.86243	CTC		0.413	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236	
POLR3E	55718	hgsc.bcm.edu	37	16	22326453	22326453	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr16:22326453G>A	ENST00000299853.5	+	9	733	c.566G>A	c.(565-567)cGt>cAt	p.R189H	POLR3E_ENST00000418581.2_Missense_Mutation_p.R153H|POLR3E_ENST00000359210.4_Missense_Mutation_p.R189H|POLR3E_ENST00000564209.1_Missense_Mutation_p.R189H	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	189					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)	p.R189H(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		CGCCAGCGCCGTGTGCAGTCC	0.647																																					p.R189H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G566A	16						.						52.0	45.0	48.0					16																	22326453		2197	4300	6497	22233954	SO:0001583	missense	55718	exon9			AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.566G>A	16.37:g.22326453G>A	ENSP00000299853:p.Arg189His	Somatic		Capture	SOLID	Phase_I	22233954	NM_018119	B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Missense_Mutation	SNP	ENST00000299853.5	37	CCDS10605.1	.	.	.	.	.	.	.	.	.	.	G	35	5.545958	0.96488	.	.	ENSG00000058600	ENST00000299853;ENST00000359210;ENST00000418581	T;T;T	0.52057	0.68;0.68;0.68	5.47	5.47	0.80525	.	0.054996	0.64402	D	0.000002	T	0.72407	0.3456	M	0.80183	2.485	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.999;0.998;1.0;0.999	T	0.76066	-0.3095	10	0.87932	D	0	-11.1651	19.3388	0.94332	0.0:0.0:1.0:0.0	.	133;153;189;189;189;189	B4DDR0;B4DL24;B4DUP6;Q9NVU0-2;Q9NVU0;Q9NVU0-3	.;.;.;.;RPC5_HUMAN;.	H	189;189;153	ENSP00000299853:R189H;ENSP00000352140:R189H;ENSP00000399254:R153H	ENSP00000299853:R189H	R	+	2	0	POLR3E	22233954	1.000000	0.71417	0.911000	0.35937	0.932000	0.56968	9.476000	0.97823	2.553000	0.86117	0.655000	0.94253	CGT		0.647	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	NM_018119	
PLK1	5347	hgsc.bcm.edu	37	16	23700060	23700060	+	Missense_Mutation	SNP	G	G	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr16:23700060G>C	ENST00000300093.4	+	7	1375	c.1264G>C	c.(1264-1266)Ggc>Cgc	p.G422R	CTD-2196E14.5_ENST00000566143.1_RNA	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	422	POLO box 1. {ECO:0000255|PROSITE- ProRule:PRU00154}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.G422R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		GGACAAGTACGGCCTTGGTAG	0.522																																					p.G422R	Colon(12;240 564 27038 33155)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1264C	16						.						161.0	145.0	150.0					16																	23700060		2197	4300	6497	23607561	SO:0001583	missense	5347	exon7				CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984	ENST00000300093.4:c.1264G>C	16.37:g.23700060G>C	ENSP00000300093:p.Gly422Arg	Somatic		Capture	SOLID	Phase_I	23607561	NM_005030	Q15153|Q99746	Missense_Mutation	SNP	ENST00000300093.4	37	CCDS10616.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.997592	0.93227	.	.	ENSG00000166851	ENST00000300093;ENST00000425844	T	0.26957	1.7	5.55	5.55	0.83447	POLO box duplicated domain (2);	0.000000	0.85682	D	0.000000	T	0.66528	0.2798	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78588	-0.2146	10	0.87932	D	0	-29.6139	16.9903	0.86352	0.0:0.0:1.0:0.0	.	422	P53350	PLK1_HUMAN	R	422;325	ENSP00000300093:G422R	ENSP00000300093:G422R	G	+	1	0	PLK1	23607561	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.391000	0.97249	2.610000	0.88304	0.655000	0.94253	GGC		0.522	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030	
TBX6	6911	hgsc.bcm.edu	37	16	30098143	30098143	+	Missense_Mutation	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr16:30098143A>G	ENST00000395224.2	-	7	928	c.869T>C	c.(868-870)cTg>cCg	p.L290P	TBX6_ENST00000279386.2_Missense_Mutation_p.L290P	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6	290					anatomical structure morphogenesis (GO:0009653)|cell fate specification (GO:0001708)|mesoderm development (GO:0007498)|mesoderm formation (GO:0001707)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L290P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						TGGGCCCCGCAGTTTCCTCTT	0.607																																					p.L290P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T869C	16						.						45.0	38.0	41.0					16																	30098143		2197	4300	6497	30005644	SO:0001583	missense	6911	exon7			AJ007989	CCDS10670.1	16p11.2	2008-02-05			ENSG00000149922	ENSG00000149922		"""T-boxes"""	11605	protein-coding gene	gene with protein product		602427				9888994, 9933572	Standard	NM_004608		Approved		uc010veh.2	O95947	OTTHUMG00000132115	ENST00000395224.2:c.869T>C	16.37:g.30098143A>G	ENSP00000378650:p.Leu290Pro	Somatic		Capture	SOLID	Phase_I	30005644	NM_004608	Q8TAS4|Q9HA44	Missense_Mutation	SNP	ENST00000395224.2	37	CCDS10670.1	.	.	.	.	.	.	.	.	.	.	A	18.55	3.648249	0.67358	.	.	ENSG00000149922	ENST00000395224;ENST00000279386	D;D	0.87809	-2.3;-2.3	5.36	5.36	0.76844	.	0.270877	0.25230	N	0.032163	T	0.81950	0.4931	N	0.24115	0.695	0.53688	D	0.999978	P	0.49447	0.924	P	0.48030	0.564	T	0.80251	-0.1460	10	0.29301	T	0.29	.	11.7469	0.51825	1.0:0.0:0.0:0.0	.	290	O95947	TBX6_HUMAN	P	290	ENSP00000378650:L290P;ENSP00000279386:L290P	ENSP00000279386:L290P	L	-	2	0	TBX6	30005644	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.281000	0.51685	2.038000	0.60285	0.454000	0.30748	CTG		0.607	TBX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255157.2	NM_004608, NM_080758	
SRCAP	10847	hgsc.bcm.edu	37	16	30745228	30745228	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr16:30745228C>T	ENST00000262518.4	+	30	6893	c.6508C>T	c.(6508-6510)Cgg>Tgg	p.R2170W	SRCAP_ENST00000344771.4_Missense_Mutation_p.R2012W|SRCAP_ENST00000395059.2_Missense_Mutation_p.R2108W	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2170	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.R2170W(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TATCAGTGAACGGACAGTGGA	0.473																																					p.R2170W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6508T	16						.						80.0	71.0	74.0					16																	30745228		2197	4300	6497	30652729	SO:0001583	missense	10847	exon30			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.6508C>T	16.37:g.30745228C>T	ENSP00000262518:p.Arg2170Trp	Somatic		Capture	SOLID	Phase_I	30652729	NM_006662	B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	12.64	1.997229	0.35226	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.92647	-3.08;-3.08;-3.08	5.36	4.39	0.52855	Helicase, C-terminal (1);	0.000000	0.44688	D	0.000427	D	0.92241	0.7539	N	0.24115	0.695	0.39285	D	0.964634	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93360	0.6726	10	0.62326	D	0.03	-13.957	12.5817	0.56393	0.3008:0.6992:0.0:0.0	.	2108;2170	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	W	2170;2108;2012	ENSP00000262518:R2170W;ENSP00000378499:R2108W;ENSP00000343042:R2012W	ENSP00000262518:R2170W	R	+	1	2	SRCAP	30652729	0.998000	0.40836	1.000000	0.80357	0.952000	0.60782	1.344000	0.33941	1.447000	0.47661	0.655000	0.94253	CGG		0.473	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662	
SLX4	84464	hgsc.bcm.edu	37	16	3647990	3647990	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr16:3647990G>A	ENST00000294008.3	-	6	1814	c.1174C>T	c.(1174-1176)Cac>Tac	p.H392Y		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	392	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CCTCTACTGTGATCACTGAAG	0.577								Direct reversal of damage																													p.H392Y												.	.	0			c.C1174T	16						.						66.0	67.0	67.0					16																	3647990		2197	4300	6497	3587991	SO:0001583	missense	84464	exon6			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.1174C>T	16.37:g.3647990G>A	ENSP00000294008:p.His392Tyr	Somatic		Capture	SOLID	Phase_I	3587991	NM_032444	Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	G	2.074	-0.412261	0.04799	.	.	ENSG00000188827	ENST00000294008	T	0.19806	2.12	5.07	3.05	0.35203	.	1.189660	0.05995	N	0.646607	T	0.16854	0.0405	L	0.38175	1.15	0.09310	N	1	P	0.50528	0.936	B	0.38156	0.266	T	0.23297	-1.0192	10	0.23302	T	0.38	.	9.7976	0.40744	0.0:0.1514:0.6912:0.1573	.	392	Q8IY92	SLX4_HUMAN	Y	392	ENSP00000294008:H392Y	ENSP00000294008:H392Y	H	-	1	0	SLX4	3587991	0.077000	0.21312	0.000000	0.03702	0.005000	0.04900	2.700000	0.47085	0.505000	0.28104	0.655000	0.94253	CAC		0.577	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444	
C16orf71	146562	hgsc.bcm.edu	37	16	4787914	4787914	+	Silent	SNP	C	C	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr16:4787914C>A	ENST00000299320.5	+	3	721	c.243C>A	c.(241-243)gcC>gcA	p.A81A	C16orf71_ENST00000590191.1_Silent_p.A81A|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	81								p.A81A(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						AGTCCAGGGCCTGGGTCGCTG	0.547																																					p.A81A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C243A	16						.						74.0	70.0	72.0					16																	4787914		2197	4300	6497	4727915	SO:0001819	synonymous_variant	146562	exon3			AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246			25081	protein-coding gene	gene with protein product						12477932	Standard	XM_005255144		Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000299320.5:c.243C>A	16.37:g.4787914C>A		Somatic		Capture	SOLID	Phase_I	4727915	NM_139170	Q8NCV0	Silent	SNP	ENST00000299320.5	37	CCDS10521.1																																																																																				0.547	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251644.1	NM_139170	
PRSS36	146547	hgsc.bcm.edu	37	16	31153128	31153128	+	Missense_Mutation	SNP	G	G	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr16:31153128G>T	ENST00000268281.4	-	11	1733	c.1675C>A	c.(1675-1677)Ctg>Atg	p.L559M	PRSS36_ENST00000418068.2_Missense_Mutation_p.L559M|PRSS36_ENST00000569305.1_Missense_Mutation_p.L554M	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	559						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)	p.L559M(1)		kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						TGGTCCTCCAGGTAGGCTCCC	0.592																																					p.L559M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1675A	16						.						75.0	64.0	68.0					16																	31153128		2197	4300	6497	31060629	SO:0001583	missense	146547	exon11			AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"""Serine peptidases / Serine peptidases"""	26906	protein-coding gene	gene with protein product	"""polyserase 2"""	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.1675C>A	16.37:g.31153128G>T	ENSP00000268281:p.Leu559Met	Somatic		Capture	SOLID	Phase_I	31060629	NM_173502	A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	ENST00000268281.4	37	CCDS32436.1	.	.	.	.	.	.	.	.	.	.	G	7.824	0.718352	0.15372	.	.	ENSG00000178226	ENST00000268281;ENST00000418068	D;D	0.91011	-2.77;-2.73	5.26	2.09	0.27110	.	.	.	.	.	T	0.80265	0.4591	N	0.17082	0.46	0.25588	N	0.986725	P;B;B	0.38827	0.649;0.098;0.098	B;B;B	0.37833	0.259;0.034;0.034	T	0.70160	-0.4948	9	0.35671	T	0.21	.	4.8516	0.13540	0.1797:0.0:0.6515:0.1689	.	559;554;559	E7EX56;B7ZMK8;Q5K4E3	.;.;POLS2_HUMAN	M	559	ENSP00000268281:L559M;ENSP00000407160:L559M	ENSP00000268281:L559M	L	-	1	2	PRSS36	31060629	0.998000	0.40836	0.998000	0.56505	0.142000	0.21351	0.845000	0.27668	0.791000	0.33826	0.555000	0.69702	CTG		0.592	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1	NM_173502	
LPCAT2	54947	hgsc.bcm.edu	37	16	55583250	55583250	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr16:55583250G>A	ENST00000262134.5	+	10	1181	c.997G>A	c.(997-999)Gga>Aga	p.G333R		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	333					glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)	p.G333R(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						GATTTCAGCAGGACAGCTAAC	0.338																																					p.G333R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G997A	16						.						81.0	87.0	85.0					16																	55583250		2198	4300	6498	54140751	SO:0001583	missense	54947	exon10			AK000488	CCDS10753.1	16q12.2	2013-01-10	2007-12-17	2007-12-17	ENSG00000087253	ENSG00000087253		"""EF-hand domain containing"""	26032	protein-coding gene	gene with protein product		612040	"""acyltransferase like 1"""	AYTL1		16704971	Standard	NM_017839		Approved	FLJ20481	uc002eie.4	Q7L5N7	OTTHUMG00000133238	ENST00000262134.5:c.997G>A	16.37:g.55583250G>A	ENSP00000262134:p.Gly333Arg	Somatic		Capture	SOLID	Phase_I	54140751	NM_017839	A3KBM1|Q6MZJ6|Q9NX23	Missense_Mutation	SNP	ENST00000262134.5	37	CCDS10753.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556338	0.86231	.	.	ENSG00000087253	ENST00000262134	T	0.74421	-0.84	6.17	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.82107	0.4965	M	0.69463	2.115	0.80722	D	1	D	0.71674	0.998	D	0.65323	0.934	T	0.79191	-0.1905	10	0.13108	T	0.6	-31.678	15.4602	0.75349	0.066:0.0:0.934:0.0	.	333	Q7L5N7	PCAT2_HUMAN	R	333	ENSP00000262134:G333R	ENSP00000262134:G333R	G	+	1	0	LPCAT2	54140751	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	9.236000	0.95360	1.616000	0.50265	0.655000	0.94253	GGA		0.338	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256977.2	NM_017839	
AMFR	267	hgsc.bcm.edu	37	16	56435678	56435678	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr16:56435678G>A	ENST00000290649.5	-	8	1262	c.1052C>T	c.(1051-1053)gCg>gTg	p.A351V		NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	351					aging (GO:0007568)|cellular component movement (GO:0006928)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|learning or memory (GO:0007611)|protein oligomerization (GO:0051259)|protein polyubiquitination (GO:0000209)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)	dendrite (GO:0030425)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	ligase activity (GO:0016874)|receptor activity (GO:0004872)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A351V(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						CAGTTTCCGCGCAGCCTGCAT	0.537																																					p.A351V	Pancreas(2;144 323 39528)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1052T	16						.						132.0	125.0	127.0					16																	56435678		2198	4300	6498	54993179	SO:0001583	missense	267	exon8			L35233	CCDS10758.1	16q21	2013-01-09	2012-02-23		ENSG00000159461	ENSG00000159461		"""RING-type (C3HC4) zinc fingers"""	463	protein-coding gene	gene with protein product		603243	"""autocrine motility factor receptor"""			1649192	Standard	NM_001144		Approved	RNF45, gp78	uc002eiy.4	Q9UKV5	OTTHUMG00000133239	ENST00000290649.5:c.1052C>T	16.37:g.56435678G>A	ENSP00000290649:p.Ala351Val	Somatic		Capture	SOLID	Phase_I	54993179	NM_001144	P26442|Q8IZ70	Missense_Mutation	SNP	ENST00000290649.5	37	CCDS10758.1	.	.	.	.	.	.	.	.	.	.	G	35	5.420538	0.96111	.	.	ENSG00000159461	ENST00000290649	T	0.36520	1.25	5.63	5.63	0.86233	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.046453	0.85682	D	0.000000	T	0.48750	0.1517	N	0.17674	0.51	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53279	-0.8461	10	0.72032	D	0.01	-18.9938	19.6949	0.96021	0.0:0.0:1.0:0.0	.	351	Q9UKV5	AMFR2_HUMAN	V	351	ENSP00000290649:A351V	ENSP00000290649:A351V	A	-	2	0	AMFR	54993179	1.000000	0.71417	0.961000	0.40146	0.981000	0.71138	9.643000	0.98464	2.649000	0.89929	0.650000	0.86243	GCG		0.537	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256978.2		
CDH8	1006	hgsc.bcm.edu	37	16	62055134	62055134	+	Silent	SNP	G	G	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr16:62055134G>T	ENST00000577390.1	-	2	1128	c.174C>A	c.(172-174)cgC>cgA	p.R58R	CDH8_ENST00000299345.6_Silent_p.R58R|CDH8_ENST00000577730.1_Silent_p.R58R|CDH8_ENST00000584337.1_Silent_p.R58R	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	58					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.R58R(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CTCTTTTGGAGCGGTTCAAAA	0.433																																					p.R58R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C174A	16						.						71.0	71.0	71.0					16																	62055134		2203	4300	6503	60612635	SO:0001819	synonymous_variant	1006	exon2			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.174C>A	16.37:g.62055134G>T		Somatic		Capture	SOLID	Phase_I	60612635	NM_001796	B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	ENST00000577390.1	37	CCDS10802.1																																																																																				0.433	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796	
CDH5	1003	hgsc.bcm.edu	37	16	66426126	66426126	+	Missense_Mutation	SNP	G	G	A	rs199838141		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr16:66426126G>A	ENST00000341529.3	+	7	1205	c.1057G>A	c.(1057-1059)Gcg>Acg	p.A353T	CDH5_ENST00000563425.2_Missense_Mutation_p.A353T	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	353	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)	p.A353T(1)		central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	GAGCCCTCCCGCGGGAAACAG	0.522													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19946	0.0		0.0	False		,,,				2504	0.0				p.A353T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1057A	16						.						149.0	146.0	147.0					16																	66426126		2201	4300	6501	64983627	SO:0001583	missense	1003	exon7			X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.1057G>A	16.37:g.66426126G>A	ENSP00000344115:p.Ala353Thr	Somatic		Capture	SOLID	Phase_I	64983627	NM_001795	Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	CCDS10804.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	10.51	1.371693	0.24771	.	.	ENSG00000179776	ENST00000341529;ENST00000379531;ENST00000539262	T	0.51574	0.7	5.7	-11.4	0.00090	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.20414	0.0491	N	0.11724	0.165	0.09310	N	1	B	0.15930	0.015	B	0.13407	0.009	T	0.22452	-1.0216	9	0.48119	T	0.1	.	4.624	0.12469	0.1276:0.3291:0.4303:0.113	.	353	P33151	CADH5_HUMAN	T	353;353;94	ENSP00000344115:A353T	ENSP00000344115:A353T	A	+	1	0	CDH5	64983627	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.381000	0.07417	-1.953000	0.01026	-0.345000	0.07892	GCG		0.522	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795	
NAE1	8883	hgsc.bcm.edu	37	16	66839713	66839713	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr16:66839713C>T	ENST00000290810.3	-	19	1559	c.1462G>A	c.(1462-1464)Gct>Act	p.A488T	NAE1_ENST00000359087.4_Missense_Mutation_p.A491T|NAE1_ENST00000394074.2_Missense_Mutation_p.A399T|NAE1_ENST00000379463.2_Missense_Mutation_p.A482T			Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	488					mitotic DNA replication checkpoint (GO:0033314)|neuron apoptotic process (GO:0051402)|protein neddylation (GO:0045116)|regulation of apoptotic process (GO:0042981)|regulation of neuron apoptotic process (GO:0043523)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|protein heterodimerization activity (GO:0046982)|ubiquitin protein ligase binding (GO:0031625)	p.A488T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TGTGGCTCAGCAGCTCCATAT	0.398																																					p.A482T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1444A	16						.						91.0	83.0	86.0					16																	66839713		2200	4300	6500	65397214	SO:0001583	missense	8883	exon20			U50939	CCDS10820.1, CCDS42171.1, CCDS42172.1, CCDS67050.1	16q22	2013-09-26	2007-12-11	2007-12-11	ENSG00000159593	ENSG00000159593		"""Ubiquitin-like modifier activating enzymes"""	621	protein-coding gene	gene with protein product		603385	"""amyloid beta precursor protein binding protein 1, 59kDa"""	APPBP1		8626687, 12740388	Standard	XM_005256215		Approved	ula-1	uc002eqf.3	Q13564	OTTHUMG00000137513	ENST00000290810.3:c.1462G>A	16.37:g.66839713C>T	ENSP00000290810:p.Ala488Thr	Somatic		Capture	SOLID	Phase_I	65397214	NM_001018159	A6NCK0|A6NFN4|A8MU28|B2R700|B3KUP9	Missense_Mutation	SNP	ENST00000290810.3	37	CCDS10820.1	.	.	.	.	.	.	.	.	.	.	C	32	5.125426	0.94429	.	.	ENSG00000159593	ENST00000359087;ENST00000290810;ENST00000379463;ENST00000394074	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.46	4.5	0.54988	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.048802	0.85682	N	0.000000	T	0.57666	0.2069	M	0.86651	2.83	0.80722	D	1	P;D;B	0.61697	0.57;0.99;0.012	B;P;B	0.49361	0.217;0.608;0.044	T	0.67562	-0.5639	10	0.56958	D	0.05	-2.3172	14.525	0.67881	0.0:0.9285:0.0:0.0715	.	491;488;482	A6NCK0;Q13564;A6NFN4	.;ULA1_HUMAN;.	T	491;488;482;399	ENSP00000351990:A491T;ENSP00000290810:A488T;ENSP00000368776:A482T;ENSP00000377637:A399T	ENSP00000290810:A488T	A	-	1	0	NAE1	65397214	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.261000	0.65496	1.284000	0.44531	0.643000	0.83706	GCT		0.398	NAE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268832.1	NM_003905	
RBFOX1	54715	hgsc.bcm.edu	37	16	7760696	7760696	+	Silent	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr16:7760696A>G	ENST00000550418.1	+	16	2131	c.1143A>G	c.(1141-1143)tcA>tcG	p.S381S	RBFOX1_ENST00000436368.2_Intron|RBFOX1_ENST00000552089.1_3'UTR|RBFOX1_ENST00000340209.4_Silent_p.S386S|RBFOX1_ENST00000547372.1_3'UTR|RBFOX1_ENST00000355637.4_3'UTR|RBFOX1_ENST00000553186.1_Silent_p.S354S|RBFOX1_ENST00000311745.5_Silent_p.S402S|RBFOX1_ENST00000547338.1_Silent_p.S381S	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	381					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.S402S(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TTCTTTCTTCATTGCAGGCTA	0.438																																					p.S402S	Ovarian(157;934 2567 15163 39509)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1206G	16						.						218.0	191.0	200.0					16																	7760696		2197	4300	6497	7700697	SO:0001819	synonymous_variant	54715	exon13			AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.1143A>G	16.37:g.7760696A>G		Somatic		Capture	SOLID	Phase_I	7700697	NM_145891	Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Silent	SNP	ENST00000550418.1	37	CCDS55983.1																																																																																				0.438	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891	
CTCF	10664	hgsc.bcm.edu	37	16	67650719	67650719	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr16:67650719C>T	ENST00000264010.4	+	5	1468	c.1024C>T	c.(1024-1026)Cgt>Tgt	p.R342C	CTCF_ENST00000401394.1_Missense_Mutation_p.R14C|AC009095.4_ENST00000388909.4_RNA	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	342					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R342C(1)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		TCGGCATCGTCGTTACAAACA	0.488																																					p.R14C	Colon(175;1200 1966 6945 23069 27405)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C40T	16						.						338.0	276.0	297.0					16																	67650719		2198	4300	6498	66208220	SO:0001583	missense	10664	exon3			U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1024C>T	16.37:g.67650719C>T	ENSP00000264010:p.Arg342Cys	Somatic		Capture	SOLID	Phase_I	66208220	NM_001191022	B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	37	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.515967	0.85495	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	T;T	0.25749	1.78;1.78	4.89	4.89	0.63831	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.097019	0.43260	D	0.000593	T	0.59459	0.2195	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.68416	-0.5414	10	0.87932	D	0	.	18.3148	0.90217	0.0:1.0:0.0:0.0	.	342	P49711	CTCF_HUMAN	C	342;14	ENSP00000264010:R342C;ENSP00000384707:R14C	ENSP00000264010:R342C	R	+	1	0	CTCF	66208220	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.448000	0.80631	2.553000	0.86117	0.558000	0.71614	CGT		0.488	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565	
ABAT	18	hgsc.bcm.edu	37	16	8862065	8862065	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr16:8862065G>A	ENST00000396600.2	+	10	1557	c.619G>A	c.(619-621)Gac>Aac	p.D207N	ABAT_ENST00000567812.1_Missense_Mutation_p.D222N|ABAT_ENST00000425191.2_Missense_Mutation_p.D207N|ABAT_ENST00000268251.8_Missense_Mutation_p.D207N|ABAT_ENST00000569156.1_Missense_Mutation_p.D207N	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	207					behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)	p.D207N(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	TGGCTGCCCCGACTACAGCAT	0.507																																					p.D207N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G619A	16						.						97.0	91.0	93.0					16																	8862065		2197	4300	6497	8769566	SO:0001583	missense	18	exon10			L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"""4-aminobutyrate transaminase"""	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.619G>A	16.37:g.8862065G>A	ENSP00000379845:p.Asp207Asn	Somatic		Capture	SOLID	Phase_I	8769566	NM_000663	A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Missense_Mutation	SNP	ENST00000396600.2	37	CCDS10534.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.290572	0.59976	.	.	ENSG00000183044	ENST00000268251;ENST00000396600;ENST00000425191	T;T;T	0.75938	-0.98;-0.98;-0.98	5.61	5.61	0.85477	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.135696	0.64402	D	0.000003	T	0.58750	0.2144	N	0.11818	0.18	0.80722	D	1	B	0.11235	0.004	B	0.08055	0.003	T	0.54248	-0.8322	10	0.15066	T	0.55	-14.5978	18.6886	0.91574	0.0:0.0:1.0:0.0	.	207	P80404	GABT_HUMAN	N	207	ENSP00000268251:D207N;ENSP00000379845:D207N;ENSP00000411916:D207N	ENSP00000268251:D207N	D	+	1	0	ABAT	8769566	1.000000	0.71417	0.954000	0.39281	0.887000	0.51463	9.245000	0.95431	2.657000	0.90304	0.555000	0.69702	GAC		0.507	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433620.2	NM_020686	
MBTPS1	8720	hgsc.bcm.edu	37	16	84089630	84089630	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr16:84089630C>T	ENST00000343411.3	-	22	3437	c.2942G>A	c.(2941-2943)gGc>gAc	p.G981D		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	981					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.G981D(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GTCCCAGGCGCCGCTCTCTCC	0.542																																					p.G981D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2942A	16						.						91.0	86.0	88.0					16																	84089630		2200	4300	6500	82647131	SO:0001583	missense	8720	exon22			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.2942G>A	16.37:g.84089630C>T	ENSP00000344223:p.Gly981Asp	Somatic		Capture	SOLID	Phase_I	82647131	NM_003791	A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925162	0.73213	.	.	ENSG00000140943	ENST00000343411;ENST00000347334	T	0.30182	1.54	5.65	5.65	0.86999	.	0.166533	0.53938	D	0.000060	T	0.31231	0.0790	L	0.46157	1.445	0.80722	D	1	P	0.41748	0.761	B	0.38378	0.272	T	0.02588	-1.1137	10	0.30078	T	0.28	-11.2768	19.7405	0.96228	0.0:1.0:0.0:0.0	.	981	Q14703	MBTP1_HUMAN	D	981;426	ENSP00000344223:G981D	ENSP00000344223:G981D	G	-	2	0	MBTPS1	82647131	1.000000	0.71417	0.421000	0.26609	0.790000	0.44656	7.718000	0.84743	2.655000	0.90218	0.655000	0.94253	GGC		0.542	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791	
APCDD1	147495	hgsc.bcm.edu	37	18	10487790	10487790	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr18:10487790C>T	ENST00000355285.5	+	5	1654	c.1300C>T	c.(1300-1302)Cgc>Tgc	p.R434C		NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1									p.R434C(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		TGCCCGGGGGCGCTATCTGCT	0.602																																					p.R434C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1300T	18						.						78.0	74.0	76.0					18																	10487790		2203	4300	6503	10477790	SO:0001583	missense	147495	exon5			AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856			15718	protein-coding gene	gene with protein product		607479				12384519	Standard	NM_153000		Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.1300C>T	18.37:g.10487790C>T	ENSP00000347433:p.Arg434Cys	Somatic		Capture	SOLID	Phase_I	10477790	NM_153000		Missense_Mutation	SNP	ENST00000355285.5	37	CCDS11849.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268548	0.80469	.	.	ENSG00000154856	ENST00000355285;ENST00000423585	T	0.18174	2.23	5.18	4.27	0.50696	.	0.052957	0.64402	D	0.000001	T	0.36082	0.0954	L	0.61218	1.895	0.80722	D	1	D	0.76494	0.999	D	0.66497	0.944	T	0.13361	-1.0512	10	0.87932	D	0	-45.6509	12.5957	0.56468	0.5133:0.4867:0.0:0.0	.	434	Q8J025	APCD1_HUMAN	C	434;485	ENSP00000347433:R434C	ENSP00000347433:R434C	R	+	1	0	APCDD1	10477790	0.992000	0.36948	0.996000	0.52242	0.986000	0.74619	3.033000	0.49743	1.221000	0.43506	0.563000	0.77884	CGC		0.602	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254529.2	NM_153000	
SS18	6760	hgsc.bcm.edu	37	18	23619374	23619374	+	Silent	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr18:23619374T>C	ENST00000415083.2	-	6	709	c.654A>G	c.(652-654)ccA>ccG	p.P218P	SS18_ENST00000542420.2_Silent_p.P195P|SS18_ENST00000542743.1_Silent_p.P166P|SS18_ENST00000539849.1_Silent_p.P136P|SS18_ENST00000545952.1_Silent_p.P166P|SS18_ENST00000269137.7_Silent_p.P218P|SS18_ENST00000585241.1_5'UTR	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	218	Gln-rich.				cell morphogenesis (GO:0000902)|ephrin receptor signaling pathway (GO:0048013)|intracellular signal transduction (GO:0035556)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.P218P(1)	SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					CGCCTCCCTGTGGCATATTGT	0.428			T	"""SSX1,  SSX2"""	synovial sarcoma																																p.P218P			Dom	yes		18	18q11.2	6760	"""synovial sarcoma translocation, chromosome 18"""		M	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A654G	18						.						176.0	148.0	158.0					18																	23619374		2203	4300	6503	21873372	SO:0001819	synonymous_variant	6760	exon6			X79201	CCDS32807.1, CCDS54183.1	18q11.2	2008-07-28				ENSG00000141380			11340	protein-coding gene	gene with protein product		600192		SSXT		8152806, 7951320, 16484776	Standard	XM_005258334		Approved	SYT	uc002kvm.3	Q15532		ENST00000415083.2:c.654A>G	18.37:g.23619374T>C		Somatic		Capture	SOLID	Phase_I	21873372	NM_005637	B0YJ95|Q16404|Q4VAX1|Q9BXC6	Silent	SNP	ENST00000415083.2	37	CCDS32807.1																																																																																				0.428	SS18-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446226.1		
DSC1	1823	hgsc.bcm.edu	37	18	28725623	28725623	+	Missense_Mutation	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr18:28725623T>C	ENST00000257198.5	-	7	1151	c.890A>G	c.(889-891)cAc>cGc	p.H297R	DSC1_ENST00000257197.3_Missense_Mutation_p.H297R|RP11-408H20.2_ENST00000581836.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	297	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.H297R(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GGTATCTGGGTGTATGGAGAA	0.393																																					p.H297R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A890G	18						.						193.0	188.0	190.0					18																	28725623		2203	4300	6503	26979621	SO:0001583	missense	1823	exon7			AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.890A>G	18.37:g.28725623T>C	ENSP00000257198:p.His297Arg	Somatic		Capture	SOLID	Phase_I	26979621	NM_004948	Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	T	15.85	2.953744	0.53293	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.60797	0.16;0.16	5.32	5.32	0.75619	Cadherin (4);Cadherin-like (1);	0.125056	0.35936	N	0.002882	T	0.61261	0.2333	M	0.77103	2.36	0.48901	D	0.999722	B;B	0.18166	0.012;0.026	B;B	0.23275	0.022;0.045	T	0.63207	-0.6689	10	0.87932	D	0	.	14.2506	0.66016	0.0:0.0:0.0:1.0	.	297;297	Q08554;Q9HB00	DSC1_HUMAN;.	R	297	ENSP00000257197:H297R;ENSP00000257198:H297R	ENSP00000257197:H297R	H	-	2	0	DSC1	26979621	1.000000	0.71417	0.977000	0.42913	0.894000	0.52154	6.289000	0.72696	2.011000	0.59026	0.397000	0.26171	CAC		0.393	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421	
B4GALT6	9331	hgsc.bcm.edu	37	18	29225320	29225320	+	Missense_Mutation	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr18:29225320T>C	ENST00000306851.5	-	4	765	c.469A>G	c.(469-471)Aag>Gag	p.K157E	B4GALT6_ENST00000383131.3_Missense_Mutation_p.K157E|B4GALT6_ENST00000237019.7_Missense_Mutation_p.K118E	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	157					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)	p.K157E(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			TACCTCACCTTCCATCTGGGT	0.378																																					p.K157E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A469G	18						.						96.0	97.0	97.0					18																	29225320		2203	4300	6503	27479318	SO:0001583	missense	9331	exon4			AF038664	CCDS11900.1	18q11	2013-02-19			ENSG00000118276	ENSG00000118276		"""Beta 4-glycosyltransferases"""	929	protein-coding gene	gene with protein product	"""UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase"""	604017				9597550, 12180132	Standard	NM_004775		Approved	beta4GalT-VI	uc002kwz.4	Q9UBX8	OTTHUMG00000131980	ENST00000306851.5:c.469A>G	18.37:g.29225320T>C	ENSP00000306459:p.Lys157Glu	Somatic		Capture	SOLID	Phase_I	27479318	NM_004775	O60514|Q6NT09	Missense_Mutation	SNP	ENST00000306851.5	37	CCDS11900.1	.	.	.	.	.	.	.	.	.	.	T	18.78	3.697175	0.68386	.	.	ENSG00000118276	ENST00000306851;ENST00000237019;ENST00000383131	T;T;T	0.38560	1.91;1.91;1.13	5.81	4.65	0.58169	.	0.073085	0.56097	N	0.000030	T	0.67144	0.2862	M	0.88640	2.97	0.30358	N	0.784116	B;D;D	0.69078	0.019;0.997;0.997	B;D;D	0.72075	0.14;0.961;0.976	T	0.71781	-0.4489	10	0.72032	D	0.01	-21.0878	10.8356	0.46685	0.0:0.075:0.0:0.925	.	157;118;157	Q6NT09;G3XA83;Q9UBX8	.;.;B4GT6_HUMAN	E	157;118;157	ENSP00000306459:K157E;ENSP00000237019:K118E;ENSP00000372613:K157E	ENSP00000237019:K118E	K	-	1	0	B4GALT6	27479318	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.101000	0.76997	1.018000	0.39521	0.533000	0.62120	AAG		0.378	B4GALT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254942.2	NM_004775	
CELF4	56853	hgsc.bcm.edu	37	18	34854343	34854343	+	Missense_Mutation	SNP	C	C	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr18:34854343C>A	ENST00000591282.1	-	6	731	c.732G>T	c.(730-732)atG>atT	p.M244I	CELF4_ENST00000334919.5_Missense_Mutation_p.M234I|CELF4_ENST00000361795.5_Missense_Mutation_p.M243I|CELF4_ENST00000588597.1_Missense_Mutation_p.M233I|CELF4_ENST00000591287.1_Missense_Mutation_p.M243I|RP11-797E24.3_ENST00000586610.1_RNA|CELF4_ENST00000603232.1_Missense_Mutation_p.M244I|CELF4_ENST00000420428.2_Missense_Mutation_p.M244I|CELF4_ENST00000601019.1_Missense_Mutation_p.M243I|RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000412753.1_Missense_Mutation_p.M244I			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	244	Necessary for TNNT2 exon 5 inclusion.|Sufficient for RNA-binding and MSE- dependent splicing activity.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)	p.M244I(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						TCTGGCCAGCCATCTGCTGCA	0.672																																					p.M234I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G702T	18						.						103.0	84.0	90.0					18																	34854343		2203	4300	6503	33108341	SO:0001583	missense	56853	exon6			AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.732G>T	18.37:g.34854343C>A	ENSP00000464794:p.Met244Ile	Somatic		Capture	SOLID	Phase_I	33108341	NM_001025089	Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Missense_Mutation	SNP	ENST00000591282.1	37	CCDS32818.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.173584	0.78452	.	.	ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919;ENST00000361683	T;T	0.75477	-0.87;-0.94	4.55	4.55	0.56014	.	0.040785	0.85682	D	0.000000	T	0.81917	0.4924	M	0.88105	2.93	0.80722	D	1	P;P;P;P;B	0.42409	0.553;0.656;0.725;0.779;0.246	B;B;B;B;B	0.44044	0.26;0.358;0.439;0.26;0.099	D	0.86536	0.1825	10	0.66056	D	0.02	-3.2801	17.4927	0.87709	0.0:1.0:0.0:0.0	.	243;233;234;243;244	Q9BZC1-3;B4DHA8;Q9BZC1-5;Q9BZC1-2;Q9BZC1	.;.;.;.;CELF4_HUMAN	I	244;244;243;234;127	ENSP00000406823:M244I;ENSP00000335631:M234I	ENSP00000335631:M234I	M	-	3	0	CELF4	33108341	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.458000	0.80787	2.373000	0.80994	0.561000	0.74099	ATG		0.672	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180	
TCEB3B	51224	hgsc.bcm.edu	37	18	44560670	44560670	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr18:44560670G>A	ENST00000332567.4	-	1	1318	c.966C>T	c.(964-966)ggC>ggT	p.G322G	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	322					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G322G(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTGGGTCCCGGCCGTCTAGAC	0.612																																					p.G322G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C966T	18						.						83.0	82.0	82.0					18																	44560670		2202	4300	6502	42814668	SO:0001819	synonymous_variant	51224	exon1			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.966C>T	18.37:g.44560670G>A		Somatic		Capture	SOLID	Phase_I	42814668	NM_016427	Q9P2V9	Silent	SNP	ENST00000332567.4	37	CCDS11932.1																																																																																				0.612	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427	
SMAD4	4089	hgsc.bcm.edu	37	18	48591919	48591919	+	Missense_Mutation	SNP	G	G	A	rs377767347		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr18:48591919G>A	ENST00000342988.3	+	9	1620	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	SMAD4_ENST00000398417.2_Missense_Mutation_p.R361H|SMAD4_ENST00000588745.1_Missense_Mutation_p.R265H	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	361	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.		R -> C (in JPS; dbSNP:rs80338963). {ECO:0000269|PubMed:9811934}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.R361H(12)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GGAGGAGATCGCTTTTGTTTG	0.413																																					p.R361H												SMAD4,small_intestine,duodenum,Substitution - Missense,+1	.	50	Whole gene deletion(36)|Substitution - Missense(12)|Unknown(2)	pancreas(26)|large_intestine(13)|lung(3)|breast(3)|upper_aerodigestive_tract(2)|stomach(2)|oesophagus(1)	c.G1082A	18	GRCh37	CM004254	SMAD4	M		.						167.0	138.0	148.0					18																	48591919		2203	4300	6503	46845917	SO:0001583	missense	4089	exon9			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1082G>A	18.37:g.48591919G>A	ENSP00000341551:p.Arg361His	Somatic		Capture	SOLID	Phase_I	46845917	NM_005359	A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	35	5.477304	0.96291	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98120	-4.73;-4.73	5.86	5.86	0.93980	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.98852	0.9612	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99741	1.1015	10	0.87932	D	0	.	18.9646	0.92691	0.0:0.0:1.0:0.0	.	361	Q13485	SMAD4_HUMAN	H	361	ENSP00000341551:R361H;ENSP00000381452:R361H	ENSP00000341551:R361H	R	+	2	0	SMAD4	46845917	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.828000	0.86729	2.771000	0.95319	0.563000	0.77884	CGC		0.413	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359	
DCC	1630	hgsc.bcm.edu	37	18	50985612	50985612	+	Missense_Mutation	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr18:50985612A>G	ENST00000442544.2	+	24	4019	c.3403A>G	c.(3403-3405)Acc>Gcc	p.T1135A	DCC_ENST00000581580.1_Missense_Mutation_p.T770A	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1135					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.T1135A(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GAAACGGGCCACCCACAGTGC	0.448																																					p.T1135A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3403G	18						.						54.0	53.0	53.0					18																	50985612		2203	4300	6503	49239610	SO:0001583	missense	1630	exon24			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3403A>G	18.37:g.50985612A>G	ENSP00000389140:p.Thr1135Ala	Somatic		Capture	SOLID	Phase_I	49239610	NM_005215		Missense_Mutation	SNP	ENST00000442544.2	37	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	A	10.27	1.304853	0.23736	.	.	ENSG00000187323	ENST00000442544	T	0.46451	0.87	5.93	5.93	0.95920	.	0.130389	0.51477	D	0.000082	T	0.22975	0.0555	N	0.11313	0.125	0.44500	D	0.997449	B	0.13145	0.007	B	0.12156	0.007	T	0.12066	-1.0562	10	0.02654	T	1	-9.9244	15.3769	0.74615	1.0:0.0:0.0:0.0	.	1135	P43146	DCC_HUMAN	A	1135	ENSP00000389140:T1135A	ENSP00000389140:T1135A	T	+	1	0	DCC	49239610	0.998000	0.40836	1.000000	0.80357	0.525000	0.34531	4.883000	0.63128	2.281000	0.76405	0.533000	0.62120	ACC		0.448	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215	
EPB41L3	23136	hgsc.bcm.edu	37	18	5407717	5407717	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr18:5407717C>T	ENST00000341928.2	-	15	2480	c.2140G>A	c.(2140-2142)Gca>Aca	p.A714T	EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.A714T|EPB41L3_ENST00000544123.1_Missense_Mutation_p.A545T|EPB41L3_ENST00000542146.1_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	714	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.A714T(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TTGAGCTCTGCATCTTCCTCC	0.378																																					p.A714T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2140A	18						.						94.0	91.0	92.0					18																	5407717		2203	4300	6503	5397717	SO:0001583	missense	23136	exon15			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2140G>A	18.37:g.5407717C>T	ENSP00000343158:p.Ala714Thr	Somatic		Capture	SOLID	Phase_I	5397717	NM_012307	B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.798479	0.31777	.	.	ENSG00000082397	ENST00000341928;ENST00000544123;ENST00000342933	T;D;T	0.82433	-1.45;-1.61;-1.45	6.07	5.21	0.72293	.	0.224883	0.46758	N	0.000267	T	0.62073	0.2398	N	0.03608	-0.345	0.80722	D	1	B;B;B	0.20671	0.047;0.046;0.012	B;B;B	0.16289	0.015;0.012;0.007	T	0.58364	-0.7649	10	0.14252	T	0.57	.	11.1899	0.48679	0.0:0.8612:0.0:0.1388	.	545;106;714	F5GX05;B7Z8M8;Q9Y2J2	.;.;E41L3_HUMAN	T	714;545;714	ENSP00000343158:A714T;ENSP00000441174:A545T;ENSP00000341138:A714T	ENSP00000343158:A714T	A	-	1	0	EPB41L3	5397717	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.328000	0.43867	1.582000	0.49881	0.655000	0.94253	GCA		0.378	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307	
WDR7	23335	hgsc.bcm.edu	37	18	54424166	54424166	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr18:54424166G>A	ENST00000254442.3	+	15	2553	c.2342G>A	c.(2341-2343)cGg>cAg	p.R781Q	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.R781Q	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	781					hematopoietic progenitor cell differentiation (GO:0002244)			p.R781Q(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CCTGAATATCGGTCCAGCAAA	0.423																																					p.R781Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2342A	18						.						96.0	89.0	91.0					18																	54424166		2203	4300	6503	52575164	SO:0001583	missense	23335	exon15			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.2342G>A	18.37:g.54424166G>A	ENSP00000254442:p.Arg781Gln	Somatic		Capture	SOLID	Phase_I	52575164	NM_015285	A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.708933	0.30322	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	T;T	0.66995	-0.24;-0.21	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000013	T	0.66025	0.2748	N	0.14661	0.345	0.52099	D	0.999943	D;D	0.67145	0.996;0.994	P;P	0.61201	0.766;0.885	T	0.60444	-0.7262	10	0.12430	T	0.62	.	19.5941	0.95527	0.0:0.0:1.0:0.0	.	781;781	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	Q	781;781;106;781	ENSP00000254442:R781Q;ENSP00000350187:R781Q	ENSP00000254442:R781Q	R	+	2	0	WDR7	52575164	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	7.154000	0.77437	2.724000	0.93272	0.655000	0.94253	CGG		0.423	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1		
TNFRSF11A	8792	hgsc.bcm.edu	37	18	60033966	60033966	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr18:60033966G>A	ENST00000586569.1	+	8	794	c.756G>A	c.(754-756)gaG>gaA	p.E252E	TNFRSF11A_ENST00000269485.7_Intron	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	252					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)	p.E252E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				GGATCAATGAGGCTTGTGGCC	0.398																																					p.E252E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G756A	18						.						193.0	186.0	189.0					18																	60033966		2203	4300	6503	58184946	SO:0001819	synonymous_variant	8792	exon8			AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11908	protein-coding gene	gene with protein product		603499	"""tumor necrosis factor receptor superfamily, member 11a, activator of NFKB"", ""Paget disease of bone 2"", ""loss of heterozygosity, 18, chromosomal region 1"""	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.756G>A	18.37:g.60033966G>A		Somatic		Capture	SOLID	Phase_I	58184946	NM_003839	I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Silent	SNP	ENST00000586569.1	37	CCDS11980.1																																																																																				0.398	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2		
L3MBTL4	91133	hgsc.bcm.edu	37	18	6243349	6243349	+	Missense_Mutation	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr18:6243349T>C	ENST00000284898.6	-	7	604	c.404A>G	c.(403-405)gAc>gGc	p.D135G	L3MBTL4_ENST00000317931.7_Missense_Mutation_p.D135G|L3MBTL4_ENST00000400104.3_Missense_Mutation_p.D135G|L3MBTL4_ENST00000535782.1_5'Flank|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.D135G	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	135					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.D135G(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TGGATGAATGTCAGGGGAACC	0.398																																					p.D135G	Esophageal Squamous(41;748 902 17366 28959 43175)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A404G	18						.						172.0	154.0	160.0					18																	6243349		2203	4300	6503	6233349	SO:0001583	missense	91133	exon7			BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.404A>G	18.37:g.6243349T>C	ENSP00000284898:p.Asp135Gly	Somatic		Capture	SOLID	Phase_I	6233349	NM_173464	A8MTL8|Q8IXS3	Missense_Mutation	SNP	ENST00000284898.6	37	CCDS11839.2	.	.	.	.	.	.	.	.	.	.	T	24.3	4.511912	0.85389	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000400104	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	4.43	4.43	0.53597	.	0.178333	0.36338	N	0.002643	T	0.70745	0.3259	M	0.89095	3.005	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.74962	-0.3485	10	0.48119	T	0.1	.	11.9299	0.52841	0.0:0.0:0.0:1.0	.	135	Q8NA19	LMBL4_HUMAN	G	135	ENSP00000382976:D135G;ENSP00000318543:D135G;ENSP00000284898:D135G;ENSP00000382975:D135G	ENSP00000284898:D135G	D	-	2	0	L3MBTL4	6233349	1.000000	0.71417	0.957000	0.39632	0.985000	0.73830	5.377000	0.66184	1.983000	0.57843	0.402000	0.26972	GAC		0.398	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	NM_173464	
CDH19	28513	hgsc.bcm.edu	37	18	64178911	64178911	+	Silent	SNP	A	A	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr18:64178911A>C	ENST00000262150.2	-	10	1762	c.1470T>G	c.(1468-1470)acT>acG	p.T490T	CDH19_ENST00000540086.1_Intron	NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	599	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T490T(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CTGCACTGATAGTCTGAATTA	0.318																																					p.T490T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1470G	18						.						78.0	79.0	79.0					18																	64178911		2203	4297	6500	62329891	SO:0001819	synonymous_variant	28513	exon10			AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.1470T>G	18.37:g.64178911A>C		Somatic		Capture	SOLID	Phase_I	62329891	NM_021153	O15098	Silent	SNP	ENST00000262150.2	37	CCDS11994.1																																																																																				0.318	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256219.1	NM_021153	
DSEL	92126	hgsc.bcm.edu	37	18	65180305	65180305	+	Missense_Mutation	SNP	G	G	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr18:65180305G>T	ENST00000310045.7	-	2	3044	c.1571C>A	c.(1570-1572)cCc>cAc	p.P524H	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	514					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)	p.P524H(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				ACCTTCCCAGGGCTTATTACA	0.498																																					p.P524H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1571A	18						.						80.0	70.0	73.0					18																	65180305		2203	4300	6503	63331285	SO:0001583	missense	92126	exon2			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.1571C>A	18.37:g.65180305G>T	ENSP00000310565:p.Pro524His	Somatic		Capture	SOLID	Phase_I	63331285	NM_032160	Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078189	0.76528	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.28069	1.63	5.46	5.46	0.80206	.	0.065224	0.64402	D	0.000007	T	0.60457	0.2270	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.63571	-0.6607	10	0.59425	D	0.04	-9.9194	18.9139	0.92496	0.0:0.0:1.0:0.0	.	514	Q8IZU8	DSEL_HUMAN	H	524;514	ENSP00000310565:P524H	ENSP00000310565:P524H	P	-	2	0	DSEL	63331285	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.628000	0.98415	2.577000	0.86979	0.563000	0.77884	CCC		0.498	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160	
TMX3	54495	hgsc.bcm.edu	37	18	66367653	66367653	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr18:66367653G>A	ENST00000299608.2	-	6	697	c.381C>T	c.(379-381)caC>caT	p.H127H	TMX3_ENST00000562706.1_Silent_p.H127H|TMX3_ENST00000443099.2_Intron	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	127	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)	p.H127H(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						CAGATACTCTGTGAGCAAACT	0.259																																					p.H127H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C381T	18						.						88.0	95.0	93.0					18																	66367653		2203	4286	6489	64518633	SO:0001819	synonymous_variant	54495	exon6			BX647846	CCDS32840.1	18q22	2011-10-19	2009-02-23	2009-02-23		ENSG00000166479		"""Protein disulfide isomerases"""	24718	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 13"""		"""thioredoxin domain containing 10"""	TXNDC10		15623505	Standard	NM_019022		Approved	FLJ20793, KIAA1830, PDIA13	uc002lkf.3	Q96JJ7		ENST00000299608.2:c.381C>T	18.37:g.66367653G>A		Somatic		Capture	SOLID	Phase_I	64518633	NM_019022	B3KV75|Q52LT7|Q8N5J0|Q9NWJ9	Silent	SNP	ENST00000299608.2	37	CCDS32840.1																																																																																				0.259	TMX3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420155.1	NM_019022	
NETO1	81832	hgsc.bcm.edu	37	18	70451047	70451047	+	Missense_Mutation	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr18:70451047T>C	ENST00000327305.6	-	7	1391	c.734A>G	c.(733-735)gAt>gGt	p.D245G	NETO1_ENST00000299430.2_Missense_Mutation_p.D244G|NETO1_ENST00000583169.1_Missense_Mutation_p.D245G	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	245	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.D245G(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AGCTTTCAAATCCTCCACGGA	0.458																																					p.D245G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A734G	18						.						180.0	155.0	164.0					18																	70451047		2203	4300	6503	68602027	SO:0001583	missense	81832	exon7			AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.734A>G	18.37:g.70451047T>C	ENSP00000313088:p.Asp245Gly	Somatic		Capture	SOLID	Phase_I	68602027	NM_138966	Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	T	16.60	3.168631	0.57584	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.17691	2.26;2.26	5.54	4.38	0.52667	CUB (5);	0.000000	0.64402	D	0.000007	T	0.34483	0.0899	L	0.54323	1.7	0.80722	D	1	D;B	0.67145	0.996;0.025	D;B	0.79784	0.993;0.036	T	0.02668	-1.1126	10	0.51188	T	0.08	-26.7549	11.3812	0.49759	0.0:0.0708:0.0:0.9292	.	244;245	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	G	245;244	ENSP00000313088:D245G;ENSP00000299430:D244G	ENSP00000299430:D244G	D	-	2	0	NETO1	68602027	1.000000	0.71417	0.863000	0.33907	0.967000	0.64934	7.997000	0.88414	1.035000	0.39972	0.528000	0.53228	GAT		0.458	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999	
ANKRD12	23253	hgsc.bcm.edu	37	18	9255834	9255834	+	Missense_Mutation	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr18:9255834A>G	ENST00000262126.4	+	9	2809	c.2569A>G	c.(2569-2571)Aaa>Gaa	p.K857E	ANKRD12_ENST00000400020.3_Missense_Mutation_p.K834E|ANKRD12_ENST00000383440.2_Missense_Mutation_p.K834E	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	857						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.K857E(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AGAAAAAGACAAATTAGATCT	0.308																																					p.K857E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2569G	18						.						29.0	30.0	30.0					18																	9255834		2199	4289	6488	9245834	SO:0001583	missense	23253	exon9			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.2569A>G	18.37:g.9255834A>G	ENSP00000262126:p.Lys857Glu	Somatic		Capture	SOLID	Phase_I	9245834	NM_015208	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	A	11.56	1.675534	0.29783	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.67865	-0.28;-0.29	5.28	5.28	0.74379	.	0.246452	0.46758	N	0.000264	T	0.67173	0.2865	M	0.61703	1.905	0.51012	D	0.999905	B;B	0.33694	0.421;0.191	B;B	0.37601	0.254;0.049	T	0.68640	-0.5355	10	0.48119	T	0.1	-17.7892	14.8905	0.70606	1.0:0.0:0.0:0.0	.	834;857	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	E	834;857	ENSP00000372932:K834E;ENSP00000262126:K857E	ENSP00000262126:K857E	K	+	1	0	ANKRD12	9245834	1.000000	0.71417	0.143000	0.22291	0.923000	0.55619	6.876000	0.75556	1.988000	0.58038	0.455000	0.32223	AAA		0.308	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208	
KIAA1468	57614	hgsc.bcm.edu	37	18	59954694	59954696	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	TGT	TGT	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr18:59954694_59954696delTGT	ENST00000398130.2	+	26	3596_3598	c.3364_3366delTGT	c.(3364-3366)tgtdel	p.C1123del	KIAA1468_ENST00000256858.6_In_Frame_Del_p.C1157del	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	1123								p.C1122delC(1)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TGCACTTTCCTGTTGTTGTATCC	0.355																																					p.1122_1122del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.3364_3366del	18						.																																			58105676	SO:0001651	inframe_deletion	57614	exon26			BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.3364_3366delTGT	18.37:g.59954700_59954702delTGT	ENSP00000381198:p.Cys1123del	Somatic		Capture	SOLID	Phase_I	58105674	NM_020854		In_Frame_Del	DEL	ENST00000398130.2	37	CCDS11979.2																																																																																				0.355	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854	
FBXO15	201456	hgsc.bcm.edu	37	18	71740834	71740834	+	Silent	SNP	G	G	A	rs186199942		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr18:71740834G>A	ENST00000419743.2	-	10	1474	c.1395C>T	c.(1393-1395)aaC>aaT	p.N465N	FBXO15_ENST00000269500.5_Silent_p.N389N|FBXO15_ENST00000580806.1_5'UTR	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	465						SCF ubiquitin ligase complex (GO:0019005)		p.N389N(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		CGTAGTCCACGTTGTATGTCT	0.502													g|||	1	0.000199681	0.0008	0.0	5008	,	,		19185	0.0		0.0	False		,,,				2504	0.0				p.N389N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1167T	18						.						240.0	224.0	230.0					18																	71740834		2203	4300	6503	69891814	SO:0001819	synonymous_variant	201456	exon10			AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"""F-boxes /  ""other"""""	13617	protein-coding gene	gene with protein product		609093	"""F-box only protein 15"""			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.1395C>T	18.37:g.71740834G>A		Somatic		Capture	SOLID	Phase_I	69891814	NM_152676	B3KST3	Silent	SNP	ENST00000419743.2	37	CCDS45884.1																																																																																				0.502	FBXO15-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000444223.1	NM_152676	
ZPLD1	131368	hgsc.bcm.edu	37	3	102183038	102183038	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:102183038G>A	ENST00000491959.1	+	14	1586	c.704G>A	c.(703-705)tGc>tAc	p.C235Y	ZPLD1_ENST00000466937.1_Missense_Mutation_p.C235Y|ZPLD1_ENST00000306176.1_Missense_Mutation_p.C251Y			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	235	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					integral component of membrane (GO:0016021)		p.C251Y(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ATGGATTATTGCTATACTACC	0.328																																					p.C251Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G752A	3						.						198.0	195.0	196.0					3																	102183038		2203	4300	6503	103665728	SO:0001583	missense	131368	exon7			AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.704G>A	3.37:g.102183038G>A	ENSP00000420265:p.Cys235Tyr	Somatic		Capture	SOLID	Phase_I	103665728	NM_175056	Q49AS1|Q8WU36	Missense_Mutation	SNP	ENST00000491959.1	37		.	.	.	.	.	.	.	.	.	.	G	20.3	3.969201	0.74246	.	.	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	D;D;D	0.94650	-3.48;-3.48;-3.48	5.47	5.47	0.80525	Zona pellucida sperm-binding protein (3);	0.081627	0.85682	D	0.000000	D	0.97492	0.9179	M	0.83312	2.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.97999	1.0359	10	0.87932	D	0	.	19.3094	0.94179	0.0:0.0:1.0:0.0	.	251;235	Q8TCW7-2;Q8TCW7	.;ZPLD1_HUMAN	Y	235;251;235	ENSP00000420265:C235Y;ENSP00000307801:C251Y;ENSP00000418253:C235Y	ENSP00000307801:C251Y	C	+	2	0	ZPLD1	103665728	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	9.848000	0.99507	2.561000	0.86390	0.491000	0.48974	TGC		0.328	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056	
ZPLD1	131368	hgsc.bcm.edu	37	3	102189251	102189251	+	Missense_Mutation	SNP	G	G	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:102189251G>T	ENST00000491959.1	+	16	1829	c.947G>T	c.(946-948)aGa>aTa	p.R316I	ZPLD1_ENST00000466937.1_Missense_Mutation_p.R316I|ZPLD1_ENST00000306176.1_Missense_Mutation_p.R332I			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	316	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					integral component of membrane (GO:0016021)		p.R332I(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						TGCAGCCACAGAGAAAGGAGA	0.498																																					p.R332I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G995T	3						.						85.0	80.0	82.0					3																	102189251		2203	4300	6503	103671941	SO:0001583	missense	131368	exon9			AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.947G>T	3.37:g.102189251G>T	ENSP00000420265:p.Arg316Ile	Somatic		Capture	SOLID	Phase_I	103671941	NM_175056	Q49AS1|Q8WU36	Missense_Mutation	SNP	ENST00000491959.1	37		.	.	.	.	.	.	.	.	.	.	G	23.7	4.451572	0.84209	.	.	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	D;D;D	0.84070	-1.79;-1.8;-1.79	5.65	5.65	0.86999	Zona pellucida sperm-binding protein (2);	0.000000	0.85682	D	0.000000	D	0.90170	0.6928	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.996;0.991	D	0.89731	0.3926	10	0.59425	D	0.04	-19.1705	20.0679	0.97707	0.0:0.0:1.0:0.0	.	332;316	Q8TCW7-2;Q8TCW7	.;ZPLD1_HUMAN	I	316;332;316	ENSP00000420265:R316I;ENSP00000307801:R332I;ENSP00000418253:R316I	ENSP00000307801:R332I	R	+	2	0	ZPLD1	103671941	1.000000	0.71417	0.992000	0.48379	0.675000	0.39556	7.516000	0.81772	2.821000	0.97095	0.561000	0.74099	AGA		0.498	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056	
SLC6A1	6529	hgsc.bcm.edu	37	3	11059010	11059010	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:11059010C>T	ENST00000287766.4	+	3	534	c.113C>T	c.(112-114)gCg>gTg	p.A38V	SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000536032.1_Intron|SLC6A1_ENST00000462473.1_Intron	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	38					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)	p.A38V(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	CAGAAGAAGGCGGCAGACCTC	0.642																																					p.A38V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C113T	3						.						80.0	81.0	81.0					3																	11059010		2203	4300	6503	11034010	SO:0001583	missense	6529	exon3				CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.113C>T	3.37:g.11059010C>T	ENSP00000287766:p.Ala38Val	Somatic		Capture	SOLID	Phase_I	11034010	NM_003042	Q8N4K8	Missense_Mutation	SNP	ENST00000287766.4	37	CCDS2603.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.649817	0.29336	.	.	ENSG00000157103	ENST00000287766;ENST00000425938	T	0.73469	-0.75	4.37	2.5	0.30297	.	0.603956	0.15619	N	0.253010	T	0.52158	0.1717	N	0.08118	0	0.44447	D	0.997371	B	0.06786	0.001	B	0.04013	0.001	T	0.37033	-0.9723	10	0.35671	T	0.21	.	9.0703	0.36488	0.1891:0.5668:0.2441:0.0	.	38	P30531	SC6A1_HUMAN	V	38	ENSP00000287766:A38V	ENSP00000287766:A38V	A	+	2	0	SLC6A1	11034010	0.988000	0.35896	0.161000	0.22692	0.521000	0.34408	3.436000	0.52856	0.535000	0.28714	0.462000	0.41574	GCG		0.642	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042	
MORC1	27136	hgsc.bcm.edu	37	3	108836846	108836846	+	Missense_Mutation	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:108836846T>C	ENST00000483760.1	-	1	104	c.61A>G	c.(61-63)Aac>Gac	p.N21D	MORC1_ENST00000232603.5_Missense_Mutation_p.N21D					MORC family CW-type zinc finger 1									p.N21D(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ACTCACGAGTTGGCGTGGATG	0.627																																					p.N21D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A61G	3						.						27.0	21.0	23.0					3																	108836846		2203	4299	6502	110319536	SO:0001583	missense	27136	exon1			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.61A>G	3.37:g.108836846T>C	ENSP00000417282:p.Asn21Asp	Somatic		Capture	SOLID	Phase_I	110319536	NM_014429		Missense_Mutation	SNP	ENST00000483760.1	37		.	.	.	.	.	.	.	.	.	.	T	24.2	4.510195	0.85282	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.11821	2.74;2.78	4.86	4.86	0.63082	.	0.000000	0.53938	D	0.000042	T	0.38241	0.1033	M	0.84326	2.69	0.38339	D	0.944014	D;D	0.76494	0.999;0.992	D;D	0.78314	0.991;0.937	T	0.44097	-0.9350	10	0.72032	D	0.01	.	11.0167	0.47693	0.0:0.0:0.0:1.0	.	21;21	E7ERX1;Q86VD1	.;MORC1_HUMAN	D	21	ENSP00000232603:N21D;ENSP00000417282:N21D	ENSP00000232603:N21D	N	-	1	0	MORC1	110319536	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.287000	0.51732	2.174000	0.68829	0.459000	0.35465	AAC		0.627	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1		
BOC	91653	hgsc.bcm.edu	37	3	112998188	112998188	+	Missense_Mutation	SNP	A	A	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:112998188A>C	ENST00000495514.1	+	12	2610	c.1906A>C	c.(1906-1908)Atc>Ctc	p.I636L	BOC_ENST00000355385.3_Missense_Mutation_p.I636L|BOC_ENST00000273395.4_Missense_Mutation_p.I637L			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	636	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.I636L(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			TGGGTTCCCAATCCAGTCCTT	0.602																																					p.I636L												.	.	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)	c.A1906C	3						.						79.0	79.0	79.0					3																	112998188		2203	4300	6503	114480878	SO:0001583	missense	91653	exon12			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.1906A>C	3.37:g.112998188A>C	ENSP00000418663:p.Ile636Leu	Somatic		Capture	SOLID	Phase_I	114480878	NM_033254	A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	A	32	5.174404	0.94807	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.60797	0.16;0.16;0.16	5.55	5.55	0.83447	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.162323	0.53938	D	0.000051	T	0.74390	0.3710	M	0.64630	1.985	0.58432	D	0.999997	B;B	0.28419	0.176;0.211	P;P	0.53649	0.612;0.731	T	0.75258	-0.3381	10	0.62326	D	0.03	.	15.6792	0.77354	1.0:0.0:0.0:0.0	.	637;636	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	L	636;637;636	ENSP00000418663:I636L;ENSP00000273395:I637L;ENSP00000347546:I636L	ENSP00000273395:I637L	I	+	1	0	BOC	114480878	1.000000	0.71417	0.916000	0.36221	0.877000	0.50540	8.722000	0.91452	2.097000	0.63578	0.460000	0.39030	ATC		0.602	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254	
DRD3	1814	hgsc.bcm.edu	37	3	113878641	113878641	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:113878641G>A	ENST00000460779.1	-	4	633	c.344C>T	c.(343-345)aCa>aTa	p.T115I	DRD3_ENST00000295881.7_Missense_Mutation_p.T115I|DRD3_ENST00000383673.2_Missense_Mutation_p.T115I|DRD3_ENST00000467632.1_Missense_Mutation_p.T115I	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	115					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)	p.T115I(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GATGCTGGCTGTACACATCAT	0.502																																					p.T115I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C344T	3						.						165.0	137.0	147.0					3																	113878641		2203	4300	6503	115361331	SO:0001583	missense	1814	exon3				CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.344C>T	3.37:g.113878641G>A	ENSP00000419402:p.Thr115Ile	Somatic		Capture	SOLID	Phase_I	115361331	NM_033663	A1A4V5|Q4VBM8	Missense_Mutation	SNP	ENST00000460779.1	37	CCDS2978.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390717	0.82902	.	.	ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673;ENST00000281274;ENST00000295881	T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79	4.58	4.58	0.56647	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.88112	0.6349	M	0.89214	3.015	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	D	0.90610	0.4551	10	0.87932	D	0	.	16.2952	0.82767	0.0:0.0:1.0:0.0	.	115;115;115;115	A1A4V4;A8K8E4;P35462;E9PCM4	.;.;DRD3_HUMAN;.	I	115	ENSP00000419402:T115I;ENSP00000420662:T115I;ENSP00000373169:T115I;ENSP00000295881:T115I	ENSP00000281274:T115I	T	-	2	0	DRD3	115361331	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.192000	0.94947	2.384000	0.81235	0.555000	0.69702	ACA		0.502	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3	
GTF2E1	2960	hgsc.bcm.edu	37	3	120500001	120500001	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:120500001C>T	ENST00000283875.5	+	5	1097	c.1004C>T	c.(1003-1005)gCc>gTc	p.A335V		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	335					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.A335V(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		ACTTCCTCTGCCATGGCTGGT	0.557																																					p.A335V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1004T	3						.						74.0	76.0	76.0					3																	120500001		2203	4300	6503	121982691	SO:0001583	missense	2960	exon5			S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"""General transcription factors"""	4650	protein-coding gene	gene with protein product		189962	"""general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"""			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.1004C>T	3.37:g.120500001C>T	ENSP00000283875:p.Ala335Val	Somatic		Capture	SOLID	Phase_I	121982691	NM_005513	Q16103	Missense_Mutation	SNP	ENST00000283875.5	37	CCDS3002.1	.	.	.	.	.	.	.	.	.	.	C	7.444	0.641225	0.14451	.	.	ENSG00000153767	ENST00000283875	T	0.45276	0.9	5.28	3.47	0.39725	.	0.160991	0.53938	N	0.000049	T	0.38295	0.1035	M	0.62723	1.935	0.22457	N	0.999085	B	0.06786	0.001	B	0.06405	0.002	T	0.24476	-1.0159	10	0.25751	T	0.34	-8.9385	11.6163	0.51092	0.0:0.8674:0.0:0.1326	.	335	P29083	T2EA_HUMAN	V	335	ENSP00000283875:A335V	ENSP00000283875:A335V	A	+	2	0	GTF2E1	121982691	0.992000	0.36948	0.044000	0.18714	0.007000	0.05969	2.972000	0.49256	0.787000	0.33731	0.650000	0.86243	GCC		0.557	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356770.1	NM_005513	
ARGFX	503582	hgsc.bcm.edu	37	3	121305332	121305332	+	Missense_Mutation	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:121305332T>C	ENST00000334384.3	+	4	843	c.833T>C	c.(832-834)cTa>cCa	p.L278P		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	278					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.L278P(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		GCTGTAGGCCTATCTCCTGCA	0.483																																					p.L278P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T833C	3						.						67.0	65.0	66.0					3																	121305332		2203	4300	6503	122788022	SO:0001583	missense	503582	exon5				CCDS33834.1	3q13.33	2011-06-20			ENSG00000186103	ENSG00000186103		"""Homeoboxes / PRD class"""	30146	protein-coding gene	gene with protein product		611164					Standard	XM_005247505		Approved		uc003eef.3	A6NJG6	OTTHUMG00000159395	ENST00000334384.3:c.833T>C	3.37:g.121305332T>C	ENSP00000335578:p.Leu278Pro	Somatic		Capture	SOLID	Phase_I	122788022	NM_001012659		Missense_Mutation	SNP	ENST00000334384.3	37	CCDS33834.1	.	.	.	.	.	.	.	.	.	.	T	8.425	0.847235	0.17034	.	.	ENSG00000186103	ENST00000334384	D	0.88046	-2.33	3.03	-0.951	0.10369	.	0.325856	0.16984	N	0.191564	T	0.70753	0.3260	N	0.24115	0.695	0.09310	N	1	B	0.26935	0.164	B	0.18871	0.023	T	0.55360	-0.8153	10	0.21540	T	0.41	-0.1272	4.1542	0.10252	0.0:0.1264:0.43:0.4436	.	278	A6NJG6	ARGFX_HUMAN	P	278	ENSP00000335578:L278P	ENSP00000335578:L278P	L	+	2	0	ARGFX	122788022	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.262000	0.08682	-0.179000	0.10654	-0.689000	0.03729	CTA		0.483	ARGFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355096.2	NM_001012659	
ILDR1	286676	hgsc.bcm.edu	37	3	121712793	121712793	+	Missense_Mutation	SNP	G	G	A	rs371191715		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:121712793G>A	ENST00000344209.5	-	7	929	c.803C>T	c.(802-804)cCg>cTg	p.P268L	ILDR1_ENST00000273691.3_Missense_Mutation_p.P224L|ILDR1_ENST00000462014.1_Missense_Mutation_p.P236L|ILDR1_ENST00000393631.1_Missense_Mutation_p.P179L|ILDR1_ENST00000460554.1_5'UTR	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	268					positive regulation of peptide hormone secretion (GO:0090277)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-density lipoprotein particle receptor activity (GO:0070506)	p.P224L(1)|p.P268L(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TGGCATCTGCGGGAGGCTGGA	0.512																																					p.P224L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C671T	3						.						47.0	47.0	47.0					3																	121712793		2203	4300	6503	123195483	SO:0001583	missense	286676	exon6			BC044240	CCDS3008.1, CCDS56270.1, CCDS56271.1	3q21.1	2013-10-11			ENSG00000145103	ENSG00000145103			28741	protein-coding gene	gene with protein product		609739	"""deafness, autosomal recessive 42"""	DFNB42		15641023, 21255762	Standard	NM_175924		Approved	MGC50831	uc003ees.3	Q86SU0	OTTHUMG00000159481	ENST00000344209.5:c.803C>T	3.37:g.121712793G>A	ENSP00000345667:p.Pro268Leu	Somatic		Capture	SOLID	Phase_I	123195483	NM_175924	Q6ZP61|Q7Z578	Missense_Mutation	SNP	ENST00000344209.5	37	CCDS56271.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511501	0.44660	.	.	ENSG00000145103	ENST00000273691;ENST00000344209;ENST00000383663;ENST00000393631;ENST00000462014	T;T;D;T	0.83755	-0.74;-0.53;-1.76;-0.36	5.14	4.26	0.50523	.	0.245199	0.49305	D	0.000151	D	0.85818	0.5785	M	0.67953	2.075	0.80722	D	1	D;B;D;D	0.60575	0.988;0.125;0.966;0.986	P;B;P;P	0.54100	0.742;0.045;0.542;0.542	D	0.84885	0.0833	10	0.35671	T	0.21	-5.6515	12.9126	0.58189	0.0:0.0:0.8365:0.1635	.	179;268;224;236	Q86SU0-5;Q86SU0;Q86SU0-2;Q86SU0-6	.;ILDR1_HUMAN;.;.	L	224;268;151;179;236	ENSP00000273691:P224L;ENSP00000345667:P268L;ENSP00000377251:P179L;ENSP00000419414:P236L	ENSP00000273691:P224L	P	-	2	0	ILDR1	123195483	1.000000	0.71417	0.901000	0.35422	0.165000	0.22458	3.658000	0.54482	1.390000	0.46547	-0.152000	0.13540	CCG		0.512	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355666.1	NM_175924	
CASR	846	hgsc.bcm.edu	37	3	121980929	121980929	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:121980929G>A	ENST00000490131.1	+	4	1419	c.1047G>A	c.(1045-1047)aaG>aaA	p.K349K	CASR_ENST00000498619.1_Silent_p.K349K|CASR_ENST00000296154.5_Silent_p.K349K	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	349					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.K349K(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GTTTTGCCAAGGAGTTTTGGG	0.507																																					p.K349K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1047A	3						.						64.0	64.0	64.0					3																	121980929		2203	4300	6503	123463619	SO:0001819	synonymous_variant	846	exon4			U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.1047G>A	3.37:g.121980929G>A		Somatic		Capture	SOLID	Phase_I	123463619	NM_000388	Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	37	CCDS3010.1																																																																																				0.507	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388	
ADCY5	111	hgsc.bcm.edu	37	3	123019037	123019037	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:123019037C>T	ENST00000462833.1	-	15	4042	c.2830G>A	c.(2830-2832)Gtg>Atg	p.V944M	ADCY5_ENST00000491190.1_Missense_Mutation_p.V577M|ADCY5_ENST00000309879.5_Missense_Mutation_p.V594M	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	944					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.V944M(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		ACGATGAGCACGTAGATGAGC	0.627																																					p.V944M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2830A	3						.						147.0	108.0	121.0					3																	123019037		2203	4300	6503	124501727	SO:0001583	missense	111	exon15			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.2830G>A	3.37:g.123019037C>T	ENSP00000419361:p.Val944Met	Somatic		Capture	SOLID	Phase_I	124501727	NM_183357	B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158084	0.78114	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879	T;D;D	0.81739	-1.11;-1.52;-1.53	4.55	4.55	0.56014	.	0.098510	0.42964	D	0.000628	T	0.79387	0.4437	M	0.65975	2.015	0.47037	D	0.999291	P;P	0.50369	0.926;0.934	P;B	0.45195	0.473;0.394	T	0.79708	-0.1690	10	0.41790	T	0.15	.	11.1045	0.48194	0.0:0.9151:0.0:0.0849	.	944;577	O95622;B3KWA8	ADCY5_HUMAN;.	M	944;577;594	ENSP00000419361:V944M;ENSP00000418537:V577M;ENSP00000308685:V594M	ENSP00000308685:V594M	V	-	1	0	ADCY5	124501727	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	3.357000	0.52277	2.354000	0.79902	0.650000	0.86243	GTG		0.627	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048	
KALRN	8997	hgsc.bcm.edu	37	3	124157798	124157798	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:124157798C>T	ENST00000240874.3	+	18	3263	c.3106C>T	c.(3106-3108)Cga>Tga	p.R1036*	KALRN_ENST00000360013.3_Nonsense_Mutation_p.R1036*|KALRN_ENST00000460856.1_Nonsense_Mutation_p.R1027*	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1036					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1036*(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GTGTGGTGGACGAGATAAGCT	0.468																																					p.R1036X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C3106T	3						.						197.0	186.0	190.0					3																	124157798		2203	4300	6503	125640488	SO:0001587	stop_gained	8997	exon18			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.3106C>T	3.37:g.124157798C>T	ENSP00000240874:p.Arg1036*	Somatic		Capture	SOLID	Phase_I	125640488	NM_003947	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Nonsense_Mutation	SNP	ENST00000240874.3	37	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	C	43	10.214022	0.99361	.	.	ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013	.	.	.	5.54	3.54	0.40534	.	0.152767	0.47093	D	0.000259	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	16.5605	0.84565	0.1516:0.8484:0.0:0.0	.	.	.	.	X	1027;1036;1036	.	ENSP00000240874:R1036X	R	+	1	2	KALRN	125640488	0.957000	0.32711	1.000000	0.80357	0.997000	0.91878	1.191000	0.32138	0.683000	0.31428	0.655000	0.94253	CGA		0.468	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947	
KALRN	8997	hgsc.bcm.edu	37	3	124351416	124351416	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:124351416C>T	ENST00000291478.5	+	2	398	c.235C>T	c.(235-237)Cgt>Tgt	p.R79C	KALRN_ENST00000393496.1_Missense_Mutation_p.R149C|KALRN_ENST00000360013.3_Missense_Mutation_p.R1776C|KALRN_ENST00000428018.2_Missense_Mutation_p.R79C	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1776	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R79C(1)|p.R1776C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GAGTCCTGTGCGTCGGCTTAA	0.577																																					p.R1776C												TRAD,kidney,NS,Substitution - Missense,-1	.	2	Substitution - Missense(2)	large_intestine(2)	c.C5326T	3						.						64.0	69.0	67.0					3																	124351416		2203	4300	6503	125834106	SO:0001583	missense	8997	exon35			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.235C>T	3.37:g.124351416C>T	ENSP00000291478:p.Arg79Cys	Somatic		Capture	SOLID	Phase_I	125834106	NM_001024660	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000291478.5	37	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439089	0.83885	.	.	ENSG00000160145	ENST00000360013;ENST00000393496;ENST00000291478;ENST00000454902;ENST00000428018	T;T;T;T	0.78364	-0.75;-0.44;-0.97;-1.17	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.85952	0.5817	M	0.67700	2.07	0.53688	D	0.999978	D;D;D	0.89917	0.998;0.997;1.0	P;P;D	0.77557	0.817;0.681;0.99	D	0.87002	0.2117	10	0.87932	D	0	.	13.5186	0.61555	0.1559:0.8441:0.0:0.0	.	79;149;1776	C9JQ37;O60229-5;O60229	.;.;KALRN_HUMAN	C	1776;149;79;79;79	ENSP00000353109:R1776C;ENSP00000377134:R149C;ENSP00000291478:R79C;ENSP00000402419:R79C	ENSP00000291478:R79C	R	+	1	0	KALRN	125834106	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.497000	0.53295	2.619000	0.88677	0.498000	0.49722	CGT		0.577	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947	
ITGB5	3693	hgsc.bcm.edu	37	3	124515595	124515595	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:124515595G>A	ENST00000296181.4	-	10	1629	c.1333C>T	c.(1333-1335)Cgg>Tgg	p.R445W		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	445					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 peptide antigen via MHC class I (GO:0002474)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)	p.R445W(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		CCCACCGGCCGCAGGGCAAAC	0.612																																					p.R445W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1333T	3						.						28.0	30.0	30.0					3																	124515595		2203	4300	6503	125998285	SO:0001583	missense	3693	exon10			J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"""Integrins"""	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.1333C>T	3.37:g.124515595G>A	ENSP00000296181:p.Arg445Trp	Somatic		Capture	SOLID	Phase_I	125998285	NM_002213	B0LPF8|B2RD70	Missense_Mutation	SNP	ENST00000296181.4	37	CCDS3030.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.17|19.17	3.776594|3.776594	0.70107|0.70107	.|.	.|.	ENSG00000082781|ENSG00000082781	ENST00000496703|ENST00000296181	.|T	.|0.65549	.|-0.16	5.26|5.26	2.12|2.12	0.27331|0.27331	.|Integrin beta subunit, N-terminal (2);	.|0.107337	.|0.64402	.|D	.|0.000007	T|T	0.76154|0.76154	0.3948|0.3948	M|M	0.74467|0.74467	2.265|2.265	0.44380|0.44380	D|D	0.997285|0.997285	.|D	.|0.89917	.|1.0	.|D	.|0.73708	.|0.981	T|T	0.79137|0.79137	-0.1927|-0.1927	5|10	.|0.87932	.|D	.|0	.|.	13.0859|13.0859	0.59140|0.59140	0.0:0.0:0.3143:0.6856|0.0:0.0:0.3143:0.6856	.|.	.|445	.|P18084	.|ITB5_HUMAN	V|W	211|445	.|ENSP00000296181:R445W	.|ENSP00000296181:R445W	A|R	-|-	2|1	0|2	ITGB5|ITGB5	125998285|125998285	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.741000|0.741000	0.42261|0.42261	3.748000|3.748000	0.55142|0.55142	0.726000|0.726000	0.32339|0.32339	0.563000|0.563000	0.77884|0.77884	GCG|CGG		0.612	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355286.3	NM_002213	
SLC41A3	54946	hgsc.bcm.edu	37	3	125725928	125725928	+	Intron	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:125725928G>A	ENST00000315891.6	-	11	1605				SLC41A3_ENST00000360370.4_Silent_p.F465F|SLC41A3_ENST00000508835.1_Silent_p.F348F|SLC41A3_ENST00000383598.2_Silent_p.F439F|SLC41A3_ENST00000346785.5_Intron	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)	p.F439F(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		GCCAGTCAGTGAAAAAGCAGA	0.587																																					p.F465F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1395T	3						.						84.0	81.0	82.0					3																	125725928		2203	4300	6503	127208618	SO:0001627	intron_variant	54946	exon11				CCDS33842.1, CCDS33843.1, CCDS33844.1, CCDS43144.1, CCDS54635.1	3q21.2	2013-09-02			ENSG00000114544	ENSG00000114544		"""Solute carriers"""	31046	protein-coding gene	gene with protein product		610803					Standard	NM_001164475		Approved	FLJ20473	uc003eij.3	Q96GZ6	OTTHUMG00000162678	ENST00000315891.6:c.1366+28C>T	3.37:g.125725928G>A		Somatic		Capture	SOLID	Phase_I	127208618	NM_017836	A6ND60|B3KSD9|B7Z4Y2|C9JE96|E7ENY4|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	Silent	SNP	ENST00000315891.6	37	CCDS33843.1																																																																																				0.587	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370886.1	NM_017836	
PIK3R4	30849	hgsc.bcm.edu	37	3	130452743	130452743	+	Missense_Mutation	SNP	C	C	T	rs139640851	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:130452743C>T	ENST00000356763.3	-	4	1656	c.1099G>A	c.(1099-1101)Gaa>Aaa	p.E367K		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	367					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E367K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GGCTCTCCTTCGGCTTTTTCT	0.428																																					p.E367K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1099A	3						.	C	LYS/GLU	0,4406		0,0,2203	134.0	136.0	136.0		1099	6.2	0.6	3	dbSNP_134	136	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PIK3R4	NM_014602.2	56	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	367/1359	130452743	2,13004	2203	4300	6503	131935433	SO:0001583	missense	30849	exon4			Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.1099G>A	3.37:g.130452743C>T	ENSP00000349205:p.Glu367Lys	Somatic		Capture	SOLID	Phase_I	131935433	NM_014602	Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.232861	0.58777	0.0	2.33E-4	ENSG00000196455	ENST00000356763	T	0.31769	1.48	6.16	6.16	0.99307	Armadillo-like helical (1);Armadillo-type fold (1);	0.265868	0.40554	N	0.001077	T	0.24275	0.0588	L	0.39245	1.2	0.80722	D	1	P	0.34587	0.458	B	0.21917	0.037	T	0.08994	-1.0695	10	0.08179	T	0.78	-13.0084	20.8598	0.99761	0.0:1.0:0.0:0.0	.	367	Q99570	PI3R4_HUMAN	K	367	ENSP00000349205:E367K	ENSP00000349205:E367K	E	-	1	0	PIK3R4	131935433	0.995000	0.38212	0.624000	0.29186	0.797000	0.45037	3.328000	0.52052	2.937000	0.99478	0.650000	0.86243	GAA		0.428	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602	
ACAD11	84129	hgsc.bcm.edu	37	3	132337484	132337484	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:132337484C>T	ENST00000264990.6	-	11	2379	c.1408G>A	c.(1408-1410)Gca>Aca	p.A470T	ACAD11_ENST00000355458.3_Missense_Mutation_p.A470T|ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000481970.2_Missense_Mutation_p.A470T	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	470					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)	p.A470T(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						TAACCTGGTGCTTGGCAGTTA	0.338																																					p.A470T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1408A	3						.						71.0	72.0	72.0					3																	132337484		2203	4299	6502	133820174	SO:0001583	missense	84129	exon11			BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"""acyl-Coenzyme A dehydrogenase family, member 11"""				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.1408G>A	3.37:g.132337484C>T	ENSP00000264990:p.Ala470Thr	Somatic		Capture	SOLID	Phase_I	133820174	NM_032169	Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP	ENST00000264990.6	37	CCDS3074.1	.	.	.	.	.	.	.	.	.	.	C	35	5.424850	0.96131	.	.	ENSG00000240303	ENST00000355458;ENST00000264990;ENST00000481970	D;D;T	0.99716	-6.51;-6.51;0.59	5.52	5.52	0.82312	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	.	.	.	.	D	0.99796	0.9913	M	0.92122	3.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.992;0.998	D	0.97332	0.9951	9	0.87932	D	0	.	19.3995	0.94621	0.0:1.0:0.0:0.0	.	470;470	D6RDI8;Q709F0	.;ACD11_HUMAN	T	470	ENSP00000347636:A470T;ENSP00000264990:A470T;ENSP00000420907:A470T	ENSP00000264990:A470T	A	-	1	0	ACAD11	133820174	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.426000	0.80270	2.754000	0.94517	0.650000	0.86243	GCA		0.338	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	NM_032169	
PPP2R3A	5523	hgsc.bcm.edu	37	3	135721935	135721935	+	Missense_Mutation	SNP	C	C	T	rs201059130		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:135721935C>T	ENST00000264977.3	+	2	2212	c.1595C>T	c.(1594-1596)gCg>gTg	p.A532V	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	532					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)	p.A532V(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GAGCCACTTGCGAAGGGTAAA	0.378													C|||	1	0.000199681	0.0	0.0	5008	,	,		18079	0.0		0.001	False		,,,				2504	0.0				p.A532V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1595T	3						.	C	,VAL/ALA	1,4387	2.1+/-5.4	0,1,2193	51.0	54.0	53.0		,1595	4.1	1.0	3		53	1,8597	1.2+/-3.3	0,1,4298	yes	intron,missense	PPP2R3A	NM_001190447.1,NM_002718.4	,64	0,2,6491	TT,TC,CC		0.0116,0.0228,0.0154	,benign	,532/1151	135721935	2,12984	2194	4299	6493	137204625	SO:0001583	missense	5523	exon2			L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.1595C>T	3.37:g.135721935C>T	ENSP00000264977:p.Ala532Val	Somatic		Capture	SOLID	Phase_I	137204625	NM_002718	A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	CCDS3087.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	5.212	0.224592	0.09916	2.28E-4	1.16E-4	ENSG00000073711	ENST00000264977	T	0.06294	3.32	5.83	4.06	0.47325	.	0.836595	0.10763	N	0.636947	T	0.06872	0.0175	L	0.40543	1.245	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.14144	-1.0483	10	0.46703	T	0.11	.	7.5979	0.28058	0.0:0.7177:0.1348:0.1475	.	532	Q06190	P2R3A_HUMAN	V	532	ENSP00000264977:A532V	ENSP00000264977:A532V	A	+	2	0	PPP2R3A	137204625	0.000000	0.05858	0.995000	0.50966	0.111000	0.19643	-0.150000	0.10189	0.823000	0.34589	-0.222000	0.12452	GCG		0.378	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718	
ARMC8	25852	hgsc.bcm.edu	37	3	137964045	137964045	+	Intron	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:137964045G>A	ENST00000469044.1	+	12	1405				ARMC8_ENST00000538260.1_Intron|ARMC8_ENST00000485396.1_Intron|ARMC8_ENST00000489213.1_Missense_Mutation_p.R343H|ARMC8_ENST00000470821.1_Missense_Mutation_p.R385H|ARMC8_ENST00000461822.1_Intron|ARMC8_ENST00000358441.2_Missense_Mutation_p.R371H|ARMC8_ENST00000491704.1_Intron|ARMC8_ENST00000393058.3_Intron|ARMC8_ENST00000481646.1_Intron|ARMC8_ENST00000471453.1_Missense_Mutation_p.R371H	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8									p.R371H(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						GGAGAGGGGCGTCCCCCAGTC	0.517																																					p.R371H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1112A	3						.						52.0	50.0	51.0					3																	137964045		2203	4300	6503	139446735	SO:0001627	intron_variant	25852	exon13				CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"""Armadillo repeat containing"""	24999	protein-coding gene	gene with protein product	"""GID complex subunit 5, VID28 homolog (S. cerevisiae)"""					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.1134+20G>A	3.37:g.137964045G>A		Somatic		Capture	SOLID	Phase_I	139446735	NM_213654	A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Missense_Mutation	SNP	ENST00000469044.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.07|17.07	3.296286|3.296286	0.60086|0.60086	.|.	.|.	ENSG00000114098|ENSG00000114098	ENST00000358441;ENST00000489213;ENST00000471453;ENST00000470821|ENST00000469860	T;T;T;T|.	0.37058|.	1.93;1.22;1.93;1.94|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	.|.	.|.	.|.	.|.	T|T	0.40595|0.40595	0.1123|0.1123	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D;D|.	0.59767|.	0.986;0.986|.	P;P|.	0.53006|.	0.715;0.715|.	T|T	0.32268|0.32268	-0.9913|-0.9913	8|5	.|.	.|.	.|.	.|.	16.7031|16.7031	0.85364|0.85364	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	385;371|.	G5E9V6;Q8IUR7-6|.	.;.|.	H|I	371;343;371;385|99	ENSP00000351221:R371H;ENSP00000418412:R343H;ENSP00000420440:R371H;ENSP00000418405:R385H|.	.|.	R|V	+|+	2|1	0|0	ARMC8|ARMC8	139446735|139446735	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	1.000000|1.000000	0.99986|0.99986	1.172000|1.172000	0.31908|0.31908	2.522000|2.522000	0.85027|0.85027	0.650000|0.650000	0.86243|0.86243	CGT|GTC		0.517	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396	
NME9	347736	hgsc.bcm.edu	37	3	138037014	138037014	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:138037014G>A	ENST00000333911.3	-	4	270	c.243C>T	c.(241-243)tgC>tgT	p.C81C	NME9_ENST00000341790.5_Intron|NME9_ENST00000317876.4_Silent_p.C59C|NME9_ENST00000536478.1_Silent_p.C59C|NME9_ENST00000383180.2_Silent_p.C59C|NME9_ENST00000484930.1_Intron			Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	81	Thioredoxin.				cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)	p.C59C(1)									AGGTTGGCTCGCACTTCCCTC	0.453																																					p.C59C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C177T	3						.						139.0	123.0	128.0					3																	138037014		2203	4300	6503	139519704	SO:0001819	synonymous_variant	347736	exon6			AF196568	CCDS3099.1	3q22.3	2012-05-18	2012-05-18	2011-08-24	ENSG00000181322	ENSG00000181322			21343	protein-coding gene	gene with protein product			"""thioredoxin domain containing 6"", ""NME gene family member 9"", ""NME family member 9"""	TXNDC6		12569107, 19852809	Standard	NM_178130		Approved	TXL-2, NM23-H9	uc003ese.1	Q86XW9	OTTHUMG00000159823	ENST00000333911.3:c.243C>T	3.37:g.138037014G>A		Somatic		Capture	SOLID	Phase_I	139519704	NM_178130	Q7Z4A8|Q8N1V7	Silent	SNP	ENST00000333911.3	37		.	.	.	.	.	.	.	.	.	.	G	4.373	0.068683	0.08436	.	.	ENSG00000181322	ENST00000474690	.	.	.	4.97	-4.47	0.03525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.4276	11.1432	0.48415	0.6105:0.0:0.3895:0.0	.	.	.	.	X	51	.	.	R	-	1	2	TXNDC6	139519704	0.997000	0.39634	0.939000	0.37840	0.456000	0.32438	0.464000	0.21988	-1.116000	0.02969	-1.717000	0.00709	CGA		0.453	NME9-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357583.1	NM_178130	
MRAS	22808	hgsc.bcm.edu	37	3	138116205	138116205	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:138116205G>A	ENST00000289104.4	+	3	880	c.233G>A	c.(232-234)cGg>cAg	p.R78Q	MRAS_ENST00000474559.1_Missense_Mutation_p.R78Q|MRAS_ENST00000464896.1_Missense_Mutation_p.R2Q|MRAS_ENST00000423968.2_Missense_Mutation_p.R78Q	NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4	NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3	O14807	RASM_HUMAN	muscle RAS oncogene homolog	78					actin cytoskeleton organization (GO:0030036)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|Ras protein signal transduction (GO:0007265)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)	p.R78Q(1)		kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						AGCGCCATGCGGGAGCAATAC	0.612																																					p.R78Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G233A	3						.						87.0	64.0	72.0					3																	138116205		2203	4300	6503	139598895	SO:0001583	missense	22808	exon3			AF022080	CCDS3100.1, CCDS58855.1	3q22.3	2014-05-09			ENSG00000158186	ENSG00000158186			7227	protein-coding gene	gene with protein product		608435				9400994, 10446149	Standard	NM_012219		Approved	M-RAs, R-RAS3, RRAS3	uc003esi.4	O14807	OTTHUMG00000159888	ENST00000289104.4:c.233G>A	3.37:g.138116205G>A	ENSP00000289104:p.Arg78Gln	Somatic		Capture	SOLID	Phase_I	139598895	NM_012219	B4DIK0|Q86WX8	Missense_Mutation	SNP	ENST00000289104.4	37	CCDS3100.1	.	.	.	.	.	.	.	.	.	.	G	36	5.691684	0.96793	.	.	ENSG00000158186	ENST00000289104;ENST00000423968;ENST00000494949;ENST00000464896;ENST00000474559	T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44	5.25	5.25	0.73442	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.91516	0.7321	M	0.91249	3.19	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.93118	0.6522	10	0.66056	D	0.02	.	16.3372	0.83068	0.0:0.0:1.0:0.0	.	78	O14807	RASM_HUMAN	Q	78;78;2;2;78	ENSP00000289104:R78Q;ENSP00000389682:R78Q;ENSP00000417685:R2Q;ENSP00000419582:R2Q;ENSP00000418356:R78Q	ENSP00000289104:R78Q	R	+	2	0	MRAS	139598895	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.860000	0.99555	2.451000	0.82905	0.561000	0.74099	CGG		0.612	MRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357990.1		
NMNAT3	349565	hgsc.bcm.edu	37	3	139279940	139279940	+	Missense_Mutation	SNP	A	A	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:139279940A>T	ENST00000296202.7	-	6	1052	c.671T>A	c.(670-672)aTc>aAc	p.I224N	RP11-319G6.1_ENST00000515247.1_RNA|RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000507242.1_5'UTR|NMNAT3_ENST00000406824.1_Missense_Mutation_p.I114N|NMNAT3_ENST00000511444.1_3'UTR|NMNAT3_ENST00000339837.5_Missense_Mutation_p.I187N|NMNAT3_ENST00000406164.1_Missense_Mutation_p.I187N|NMNAT3_ENST00000413939.2_Missense_Mutation_p.I135N			Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3	224					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)	p.I187N(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						GATGTACGTGATGACAGCATC	0.562																																					p.I187N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T560A	3						.						245.0	195.0	212.0					3																	139279940		2203	4300	6503	140762630	SO:0001583	missense	349565	exon5			AF345564	CCDS3111.1, CCDS56282.1	3q23	2013-09-20			ENSG00000163864	ENSG00000163864			20989	protein-coding gene	gene with protein product		608702				12574164	Standard	NM_178177		Approved	PNAT3	uc003etk.3	Q96T66	OTTHUMG00000159951	ENST00000296202.7:c.671T>A	3.37:g.139279940A>T	ENSP00000296202:p.Ile224Asn	Somatic		Capture	SOLID	Phase_I	140762630	NM_178177	B3KVR6|D3DNF2|D3DNF3|Q8N4G1	Missense_Mutation	SNP	ENST00000296202.7	37		.	.	.	.	.	.	.	.	.	.	A	16.00	2.998308	0.54147	.	.	ENSG00000163864	ENST00000406164;ENST00000406824;ENST00000339837;ENST00000413939;ENST00000296202	D;D;D;D;D	0.98105	-4.51;-4.61;-4.51;-4.61;-4.72	5.54	5.54	0.83059	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.434797	0.26019	N	0.026829	D	0.98469	0.9490	M	0.79475	2.455	0.47547	D	0.999454	D;D	0.89917	1.0;0.989	D;P	0.74674	0.984;0.757	D	0.98894	1.0774	10	0.45353	T	0.12	-24.0187	14.8575	0.70351	1.0:0.0:0.0:0.0	.	135;224	B3KVR6;Q96T66	.;NMNA3_HUMAN	N	187;114;187;135;224	ENSP00000384319:I187N;ENSP00000384684:I114N;ENSP00000340523:I187N;ENSP00000412953:I135N;ENSP00000296202:I224N	ENSP00000296202:I224N	I	-	2	0	NMNAT3	140762630	1.000000	0.71417	0.777000	0.31699	0.400000	0.30750	8.962000	0.93254	2.107000	0.64212	0.533000	0.62120	ATC		0.562	NMNAT3-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000358469.1	NM_178177	
PXYLP1	92370	hgsc.bcm.edu	37	3	141011926	141011926	+	Missense_Mutation	SNP	G	G	A	rs114061733	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:141011926G>A	ENST00000286353.4	+	6	1459	c.1322G>A	c.(1321-1323)cGt>cAt	p.R441H	ACPL2_ENST00000393007.1_Missense_Mutation_p.R425H|ACPL2_ENST00000502783.1_Missense_Mutation_p.R403H|ACPL2_ENST00000504264.1_Missense_Mutation_p.R424H|ACPL2_ENST00000393010.2_Missense_Mutation_p.R441H|ACPL2_ENST00000508812.1_Missense_Mutation_p.R432H|RP11-438D8.2_ENST00000507698.1_RNA	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		441						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)	p.R441H(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						CACCACAAGCGTTCTCCCAAG	0.493													G|||	16	0.00319489	0.0121	0.0	5008	,	,		21923	0.0		0.0	False		,,,				2504	0.0				p.R441H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1322A	3						.	G	HIS/ARG,HIS/ARG	59,4347	58.1+/-94.6	1,57,2145	98.0	95.0	96.0		1322,1322	-4.2	0.0	3	dbSNP_132	96	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	ACPL2	NM_001037172.1,NM_152282.3	29,29	1,58,6444	AA,AG,GG		0.0116,1.3391,0.4613	benign,benign	441/481,441/481	141011926	60,12946	2203	4300	6503	142494616	SO:0001583	missense	92370	exon8																														ENST00000286353.4:c.1322G>A	3.37:g.141011926G>A	ENSP00000286353:p.Arg441His	Somatic		Capture	SOLID	Phase_I	142494616	NM_152282	D3DNF5|Q49AJ2|W0TR04	Missense_Mutation	SNP	ENST00000286353.4	37	CCDS3116.1	5|5	0.0022893772893772895|0.0022893772893772895	4|4	0.008130081300813009|0.008130081300813009	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	G|G	7.636|7.636	0.679802|0.679802	0.14907|0.14907	0.013391|0.013391	1.16E-4|1.16E-4	ENSG00000155893|ENSG00000155893	ENST00000286353;ENST00000502783;ENST00000393010;ENST00000504264;ENST00000508812;ENST00000393007|ENST00000332228	T;T;T;T;T;T|.	0.76060|.	-0.99;-0.99;-0.99;-0.99;-0.99;-0.99|.	5.72|5.72	-4.21|-4.21	0.03812|0.03812	.|.	0.486738|.	0.24828|.	N|.	0.035266|.	T|T	0.11793|0.11793	0.0287|0.0287	N|N	0.03324|0.03324	-0.35|-0.35	0.25574|0.25574	N|N	0.986863|0.986863	B;B|.	0.06786|.	0.001;0.001|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.25847|0.25847	-1.0120|-1.0120	10|6	0.10377|0.26408	T|T	0.69|0.33	.|.	13.248|13.248	0.60033|0.60033	0.6548:0.0:0.3452:0.0|0.6548:0.0:0.3452:0.0	.|.	424;441|.	B7Z3R9;Q8TE99|.	.;ACPL2_HUMAN|.	H|I	441;403;441;424;432;425|237	ENSP00000286353:R441H;ENSP00000422558:R403H;ENSP00000376733:R441H;ENSP00000426877:R424H;ENSP00000422901:R432H;ENSP00000376731:R425H|.	ENSP00000286353:R441H|ENSP00000327587:V237I	R|V	+|+	2|1	0|0	ACPL2|ACPL2	142494616|142494616	0.000000|0.000000	0.05858|0.05858	0.008000|0.008000	0.14137|0.14137	0.937000|0.937000	0.57800|0.57800	-0.213000|-0.213000	0.09305|0.09305	-0.732000|-0.732000	0.04856|0.04856	-1.804000|-1.804000	0.00617|0.00617	CGT|GTT		0.493	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359533.2		
ATR	545	hgsc.bcm.edu	37	3	142275301	142275301	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:142275301G>A	ENST00000350721.4	-	9	2123	c.2002C>T	c.(2002-2004)Cgg>Tgg	p.R668W	ATR_ENST00000383101.3_Missense_Mutation_p.R604W	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	668					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R668W(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CAACTAGCCCGGATTACTTCA	0.393								Other conserved DNA damage response genes																													p.R668W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2002T	3						.						94.0	100.0	98.0					3																	142275301		2203	4300	6503	143757991	SO:0001583	missense	545	exon9			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.2002C>T	3.37:g.142275301G>A	ENSP00000343741:p.Arg668Trp	Somatic		Capture	SOLID	Phase_I	143757991	NM_001184	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595624	0.66219	.	.	ENSG00000175054	ENST00000350721;ENST00000383101;ENST00000515149	T;T	0.66815	-0.23;-0.23	5.16	4.28	0.50868	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72382	0.3453	L	0.29908	0.895	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	T	0.75808	-0.3187	10	0.87932	D	0	-13.625	13.784	0.63099	0.0:0.0:0.721:0.279	.	668	Q13535	ATR_HUMAN	W	668;604;285	ENSP00000343741:R668W;ENSP00000372581:R604W	ENSP00000343741:R668W	R	-	1	2	ATR	143757991	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.120000	0.57897	1.282000	0.44496	0.585000	0.79938	CGG		0.393	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184	
SLC9A9	285195	hgsc.bcm.edu	37	3	143567097	143567097	+	Missense_Mutation	SNP	T	T	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:143567097T>G	ENST00000316549.6	-	1	276	c.68A>C	c.(67-69)gAg>gCg	p.E23A	SLC9A9_ENST00000498717.2_5'UTR	NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	23					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)	p.E23A(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GACAAGCAGCTCCACCGCTCC	0.408																																					p.E23A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A68C	3						.						155.0	147.0	150.0					3																	143567097		2203	4300	6503	145049787	SO:0001583	missense	285195	exon1			AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.68A>C	3.37:g.143567097T>G	ENSP00000320246:p.Glu23Ala	Somatic		Capture	SOLID	Phase_I	145049787	NM_173653	A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	ENST00000316549.6	37	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.273105	0.80580	.	.	ENSG00000181804	ENST00000316549;ENST00000474151	T;T	0.22743	1.94;1.94	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000001	T	0.28267	0.0698	L	0.51422	1.61	0.54753	D	0.999986	D	0.55172	0.97	P	0.51833	0.681	T	0.03969	-1.0988	10	0.07990	T	0.79	.	15.8923	0.79309	0.0:0.0:0.0:1.0	.	23	Q8IVB4	SL9A9_HUMAN	A	23	ENSP00000320246:E23A;ENSP00000418627:E23A	ENSP00000320246:E23A	E	-	2	0	SLC9A9	145049787	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.799000	0.75160	2.157000	0.67596	0.533000	0.62120	GAG		0.408	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653	
PLOD2	5352	hgsc.bcm.edu	37	3	145806451	145806451	+	Silent	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:145806451A>G	ENST00000360060.3	-	9	1104	c.927T>C	c.(925-927)ccT>ccC	p.P309P	PLOD2_ENST00000494950.1_Silent_p.P254P|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000461497.1_5'Flank|PLOD2_ENST00000282903.5_Silent_p.P309P	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	309					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)	p.P309P(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	GAGGTAGAAAAGGGGTTGGTT	0.308																																					p.P309P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T927C	3						.						88.0	83.0	85.0					3																	145806451		2202	4298	6500	147289141	SO:0001819	synonymous_variant	5352	exon9			U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"""lysyl hydroxlase 2"""	601865	"""procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"""			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.927T>C	3.37:g.145806451A>G		Somatic		Capture	SOLID	Phase_I	147289141	NM_000935	B3KWS3|Q59ED2|Q8N170	Silent	SNP	ENST00000360060.3	37	CCDS3131.1																																																																																				0.308	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1	NM_000935	
PLSCR2	57047	hgsc.bcm.edu	37	3	146171805	146171805	+	Missense_Mutation	SNP	G	G	A	rs375128168		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:146171805G>A	ENST00000497985.1	-	7	1125	c.686C>T	c.(685-687)gCg>gTg	p.A229V	PLSCR2_ENST00000336685.2_Missense_Mutation_p.A156V	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	229					phospholipid scrambling (GO:0017121)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid scramblase activity (GO:0017128)	p.A156E(1)|p.A156V(1)|p.A229E(1)		endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						ATCAACACCCGCAATACAGCT	0.323																																					p.A156V												.	.	3	Substitution - Missense(3)	endometrium(2)|large_intestine(1)	c.C467T	3						.	G	VAL/ALA,VAL/ALA	1,4405		0,1,2202	123.0	118.0	120.0		686,674	-6.5	0.0	3		120	0,8600		0,0,4300	no	missense,missense	PLSCR2	NM_001199978.1,NM_001199979.1	64,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	229/298,225/294	146171805	1,13005	2203	4300	6503	147654495	SO:0001583	missense	57047	exon6				CCDS56284.1, CCDS3134.1, CCDS75029.1	3q24	2008-07-18			ENSG00000163746	ENSG00000163746			16494	protein-coding gene	gene with protein product		607610				10930526	Standard	NM_001199978		Approved		uc003evw.2	Q9NRY7	OTTHUMG00000159429	ENST00000497985.1:c.686C>T	3.37:g.146171805G>A	ENSP00000420132:p.Ala229Val	Somatic		Capture	SOLID	Phase_I	147654495	NM_020359	B4DXC3|J3KR76|Q0VAQ1|Q6NSW9|Q7Z4L7	Missense_Mutation	SNP	ENST00000497985.1	37	CCDS56284.1	.	.	.	.	.	.	.	.	.	.	.	10.71	1.428260	0.25726	2.27E-4	0.0	ENSG00000163746	ENST00000336685;ENST00000535500;ENST00000497985;ENST00000489015	T;T;T	0.21734	1.99;1.99;1.99	3.64	-6.48	0.01896	.	0.176775	0.22413	U	0.060385	T	0.16685	0.0401	L	0.52364	1.645	0.09310	N	1	P;P	0.47484	0.896;0.489	B;B	0.43445	0.42;0.196	T	0.06445	-1.0826	10	0.30078	T	0.28	.	12.4847	0.55866	0.0:0.5673:0.199:0.2336	.	249;156	Q7Z4L7;Q9NRY7	.;PLS2_HUMAN	V	156;248;229;156	ENSP00000338707:A156V;ENSP00000420132:A229V;ENSP00000418444:A156V	ENSP00000338707:A156V	A	-	2	0	PLSCR2	147654495	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.183000	0.01255	-1.759000	0.01313	-0.467000	0.05162	GCG		0.323	PLSCR2-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000355264.1	NM_020359	
NR2C2	7182	hgsc.bcm.edu	37	3	15055178	15055178	+	Missense_Mutation	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:15055178T>C	ENST00000425241.1	+	3	517	c.155T>C	c.(154-156)aTc>aCc	p.I52T	NR2C2_ENST00000323373.6_Missense_Mutation_p.I71T|NR2C2_ENST00000393102.3_Missense_Mutation_p.I52T|NR2C2_ENST00000406272.2_Missense_Mutation_p.I52T			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	52					cell differentiation (GO:0030154)|gene expression (GO:0010467)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.I71T(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CAGCAGTTCATCCTGACCAGC	0.537																																					p.I71T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T212C	3						.						89.0	79.0	83.0					3																	15055178		2203	4300	6503	15030182	SO:0001583	missense	7182	exon4			L27586	CCDS2621.1, CCDS74905.1	3p25	2013-01-16			ENSG00000177463	ENSG00000177463		"""Nuclear hormone receptors"""	7972	protein-coding gene	gene with protein product		601426		TR4		8661150, 8016112	Standard	XM_005265428		Approved	TAK1, TR2R1, hTAK1	uc003bzi.3	P49116	OTTHUMG00000129839	ENST00000425241.1:c.155T>C	3.37:g.15055178T>C	ENSP00000388387:p.Ile52Thr	Somatic		Capture	SOLID	Phase_I	15030182	NM_003298	A8K3H5|B6ZGT8|P55092	Missense_Mutation	SNP	ENST00000425241.1	37		.	.	.	.	.	.	.	.	.	.	T	14.51	2.557329	0.45590	.	.	ENSG00000177463	ENST00000413118;ENST00000425241;ENST00000323373;ENST00000393102;ENST00000437120;ENST00000406272	D;D;D;D;D	0.95853	-3.81;-3.83;-3.81;-3.67;-3.81	5.91	5.91	0.95273	.	0.137569	0.64402	D	0.000004	D	0.96753	0.8940	M	0.62723	1.935	0.54753	D	0.999987	D;B	0.63046	0.992;0.048	D;B	0.63703	0.917;0.08	D	0.95984	0.8980	10	0.33141	T	0.24	.	16.3472	0.83146	0.0:0.0:0.0:1.0	.	52;71	P49116;F2YGU2	NR2C2_HUMAN;.	T	52;52;71;52;71;52	ENSP00000388387:I52T;ENSP00000320447:I71T;ENSP00000376814:I52T;ENSP00000401807:I71T;ENSP00000384463:I52T	ENSP00000320447:I71T	I	+	2	0	NR2C2	15030182	1.000000	0.71417	1.000000	0.80357	0.016000	0.09150	7.693000	0.84214	2.266000	0.75297	0.454000	0.30748	ATC		0.537	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000340729.1	NM_003298	
AGTR1	185	hgsc.bcm.edu	37	3	148459241	148459241	+	Missense_Mutation	SNP	G	G	A	rs570056677		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:148459241G>A	ENST00000497524.1	+	2	810	c.419G>A	c.(418-420)cGc>cAc	p.R140H	AGTR1_ENST00000349243.3_Missense_Mutation_p.R140H|AGTR1_ENST00000474935.1_Missense_Mutation_p.R140H|AGTR1_ENST00000542281.1_Missense_Mutation_p.R140H|AGTR1_ENST00000404754.2_Missense_Mutation_p.R140H|AGTR1_ENST00000418473.2_Missense_Mutation_p.R140H|AGTR1_ENST00000475347.1_Missense_Mutation_p.R140H|AGTR1_ENST00000402260.1_Missense_Mutation_p.R140H|AGTR1_ENST00000461609.1_Missense_Mutation_p.R140H	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	140					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)	p.R140H(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	CGCCTTCGACGCACAATGCTT	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		19918	0.0		0.001	False		,,,				2504	0.0				p.R140H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G419A	3						.						123.0	116.0	118.0					3																	148459241		2203	4300	6503	149941931	SO:0001583	missense	185	exon3			M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"""GPCR / Class A : Angiotensin receptors"""	336	protein-coding gene	gene with protein product		106165	"""angiotensin receptor 1B"""	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.419G>A	3.37:g.148459241G>A	ENSP00000419422:p.Arg140His	Somatic		Capture	SOLID	Phase_I	149941931	NM_032049	Q13725|Q8TBK4	Missense_Mutation	SNP	ENST00000497524.1	37	CCDS3137.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888300	0.91814	.	.	ENSG00000144891	ENST00000497524;ENST00000349243;ENST00000542281;ENST00000418473;ENST00000404754;ENST00000475347;ENST00000474935;ENST00000461609;ENST00000402260	T;T;T;T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06	5.48	5.48	0.80851	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.73598	0.3607	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79985	-0.1572	10	0.87932	D	0	-12.5606	19.387	0.94560	0.0:0.0:1.0:0.0	.	140	P30556	AGTR1_HUMAN	H	140	ENSP00000419422:R140H;ENSP00000273430:R140H;ENSP00000443186:R140H;ENSP00000398832:R140H;ENSP00000385612:R140H;ENSP00000419783:R140H;ENSP00000418084:R140H;ENSP00000418851:R140H;ENSP00000385641:R140H	ENSP00000273430:R140H	R	+	2	0	AGTR1	149941931	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.572000	0.86782	0.655000	0.94253	CGC		0.473	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355807.1		
PLD1	5337	hgsc.bcm.edu	37	3	171431782	171431782	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:171431782G>A	ENST00000351298.4	-	9	938	c.812C>T	c.(811-813)gCc>gTc	p.A271V	PLD1_ENST00000356327.5_Missense_Mutation_p.A271V|PLD1_ENST00000340989.4_Missense_Mutation_p.A271V|PLD1_ENST00000342215.6_Missense_Mutation_p.A271V	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	271	PH.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.A271V(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GAAGGCAATGGCACCGCTGTC	0.353																																					p.A271V	NSCLC(149;2174 3517 34058)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C812T	3						.						117.0	121.0	120.0					3																	171431782		2203	4300	6503	172914476	SO:0001583	missense	5337	exon9			U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.812C>T	3.37:g.171431782G>A	ENSP00000342793:p.Ala271Val	Somatic		Capture	SOLID	Phase_I	172914476	NM_001130081		Missense_Mutation	SNP	ENST00000351298.4	37	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678644	0.88542	.	.	ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000342215;ENST00000340989	T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94	5.36	5.36	0.76844	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.82600	0.5072	L	0.58302	1.8	0.80722	D	1	P;D	0.55385	0.771;0.971	P;P	0.62298	0.475;0.9	T	0.79985	-0.1572	10	0.33141	T	0.24	-14.9984	18.2205	0.89899	0.0:0.0:1.0:0.0	.	294;271	Q59EA4;Q13393	.;PLD1_HUMAN	V	271	ENSP00000348681:A271V;ENSP00000342793:A271V;ENSP00000339936:A271V;ENSP00000340326:A271V	ENSP00000340326:A271V	A	-	2	0	PLD1	172914476	1.000000	0.71417	0.950000	0.38849	0.998000	0.95712	7.129000	0.77225	2.678000	0.91216	0.563000	0.77884	GCC		0.353	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662	
ECT2	1894	hgsc.bcm.edu	37	3	172477988	172477988	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:172477988C>T	ENST00000392692.3	+	7	795	c.619C>T	c.(619-621)Cga>Tga	p.R207*	ECT2_ENST00000427830.1_Nonsense_Mutation_p.R176*|ECT2_ENST00000232458.5_Nonsense_Mutation_p.R176*|ECT2_ENST00000441497.2_Nonsense_Mutation_p.R176*|ECT2_ENST00000417960.1_Nonsense_Mutation_p.R175*|ECT2_ENST00000540509.1_Nonsense_Mutation_p.R207*	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	207	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.R176*(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TGGAGTTATTCGAAAAGACTT	0.323																																					p.R176X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C526T	3						.						121.0	120.0	121.0					3																	172477988		2203	4300	6503	173960682	SO:0001587	stop_gained	1894	exon5			AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.619C>T	3.37:g.172477988C>T	ENSP00000376457:p.Arg207*	Somatic		Capture	SOLID	Phase_I	173960682	NM_018098	Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Nonsense_Mutation	SNP	ENST00000392692.3	37	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	C	37	6.422166	0.97555	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000428567;ENST00000441497;ENST00000540509	.	.	.	5.8	4.92	0.64577	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.566	13.4958	0.61426	0.2843:0.7157:0.0:0.0	.	.	.	.	X	176;207;176;175;175;176;207	.	ENSP00000232458:R176X	R	+	1	2	ECT2	173960682	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.584000	0.36589	1.415000	0.47037	0.655000	0.94253	CGA		0.323	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098	
SPATA16	83893	hgsc.bcm.edu	37	3	172737330	172737330	+	Missense_Mutation	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:172737330T>C	ENST00000351008.3	-	4	977	c.794A>G	c.(793-795)cAt>cGt	p.H265R		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	265					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)		p.H265R(1)		breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TTGACGAAGATGATTCCGGAA	0.358																																					p.H265R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A794G	3						.						133.0	140.0	138.0					3																	172737330		2203	4300	6503	174220024	SO:0001583	missense	83893	exon4			AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.794A>G	3.37:g.172737330T>C	ENSP00000341765:p.His265Arg	Somatic		Capture	SOLID	Phase_I	174220024	NM_031955	Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	ENST00000351008.3	37	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	T	17.85	3.490585	0.64074	.	.	ENSG00000144962	ENST00000351008	T	0.22539	1.95	5.95	5.95	0.96441	Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000004	T	0.35038	0.0918	L	0.29908	0.895	0.37368	D	0.91152	D	0.89917	1.0	D	0.83275	0.996	T	0.34527	-0.9825	10	0.87932	D	0	-16.6745	13.9257	0.63961	0.0:0.0:0.0:1.0	.	265	Q9BXB7	SPT16_HUMAN	R	265	ENSP00000341765:H265R	ENSP00000341765:H265R	H	-	2	0	SPATA16	174220024	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	4.750000	0.62162	2.268000	0.75426	0.533000	0.62120	CAT		0.358	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955	
MCCC1	56922	hgsc.bcm.edu	37	3	182789054	182789054	+	Missense_Mutation	SNP	C	C	T	rs532532757		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:182789054C>T	ENST00000265594.4	-	6	729	c.583G>A	c.(583-585)Gcc>Acc	p.A195T	MCCC1_ENST00000539926.1_Missense_Mutation_p.A60T|MCCC1_ENST00000492597.1_Missense_Mutation_p.A86T	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	195	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)	p.A195T(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	ATTCTCCTGGCGTGTTCCTTC	0.488																																					p.A195T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G583A	3						.						106.0	104.0	105.0					3																	182789054		2203	4300	6503	184271748	SO:0001583	missense	56922	exon6			AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"""methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"""			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.583G>A	3.37:g.182789054C>T	ENSP00000265594:p.Ala195Thr	Somatic		Capture	SOLID	Phase_I	184271748	NM_020166	Q59ES4|Q9H959|Q9NS97	Missense_Mutation	SNP	ENST00000265594.4	37	CCDS3241.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610699	0.87258	.	.	ENSG00000078070	ENST00000265594;ENST00000492597;ENST00000392616;ENST00000539926;ENST00000476176;ENST00000448585;ENST00000541636	D;D;D;D	0.98264	-4.83;-4.83;-4.83;-4.83	5.9	5.9	0.94986	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.000000	0.85682	D	0.000000	D	0.99272	0.9746	M	0.93898	3.47	0.80722	D	1	D;D;D	0.89917	0.997;0.999;1.0	P;D;D	0.71870	0.833;0.919;0.975	D	0.99066	1.0832	10	0.87932	D	0	.	20.2789	0.98501	0.0:1.0:0.0:0.0	.	148;86;195	E9PG35;E9PHF7;Q96RQ3	.;.;MCCA_HUMAN	T	195;86;45;60;148;148;86	ENSP00000265594:A195T;ENSP00000419898:A86T;ENSP00000441253:A60T;ENSP00000420433:A148T	ENSP00000265594:A195T	A	-	1	0	MCCC1	184271748	1.000000	0.71417	0.183000	0.23137	0.309000	0.27889	7.402000	0.79972	2.788000	0.95919	0.650000	0.86243	GCC		0.488	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	NM_020166	
LEPREL1	55214	hgsc.bcm.edu	37	3	189711903	189711903	+	Missense_Mutation	SNP	C	C	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:189711903C>G	ENST00000319332.5	-	3	1000	c.803G>C	c.(802-804)gGt>gCt	p.G268A	LEPREL1_ENST00000427335.2_Missense_Mutation_p.G87A	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	268					collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)	p.G268A(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TTCATACAGACCAGCCTTATA	0.338																																					p.G87A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G260C	3						.						68.0	67.0	68.0					3																	189711903		2203	4300	6503	191194597	SO:0001583	missense	55214	exon3				CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 2"""	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.803G>C	3.37:g.189711903C>G	ENSP00000316881:p.Gly268Ala	Somatic		Capture	SOLID	Phase_I	191194597	NM_001134418	B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Missense_Mutation	SNP	ENST00000319332.5	37	CCDS3294.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.125186	0.37533	.	.	ENSG00000090530	ENST00000319332;ENST00000427335;ENST00000444866;ENST00000426003	T;T;T;T	0.44083	1.6;1.6;1.6;0.93	5.72	5.72	0.89469	.	0.201265	0.53938	D	0.000053	T	0.38108	0.1028	L	0.52011	1.625	0.34867	D	0.743267	B	0.22909	0.077	B	0.19946	0.027	T	0.43032	-0.9416	9	.	.	.	-13.7254	14.469	0.67504	0.0:0.8533:0.1467:0.0	.	268	Q8IVL5	P3H2_HUMAN	A	268;87;87;87	ENSP00000316881:G268A;ENSP00000408947:G87A;ENSP00000391374:G87A;ENSP00000394326:G87A	.	G	-	2	0	LEPREL1	191194597	0.013000	0.17824	0.992000	0.48379	0.882000	0.50991	0.553000	0.23391	2.711000	0.92665	0.655000	0.94253	GGT		0.338	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343855.1	NM_018192	
ATP13A4	84239	hgsc.bcm.edu	37	3	193156288	193156288	+	Missense_Mutation	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:193156288A>G	ENST00000342695.4	-	23	2970	c.2648T>C	c.(2647-2649)aTt>aCt	p.I883T	ATP13A4_ENST00000392443.3_Missense_Mutation_p.I864T	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	883						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.I883T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TACGCACTCAATGTTTGGAGT	0.443																																					p.I883T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2648C	3						.						152.0	130.0	137.0					3																	193156288		2203	4300	6503	194638982	SO:0001583	missense	84239	exon23			AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.2648T>C	3.37:g.193156288A>G	ENSP00000339182:p.Ile883Thr	Somatic		Capture	SOLID	Phase_I	194638982	NM_032279	B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	A	25.1	4.599753	0.87055	.	.	ENSG00000127249	ENST00000392443;ENST00000342695	T;T	0.58060	0.36;0.36	5.87	5.87	0.94306	HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.81754	0.4889	H	0.96633	3.855	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.87793	0.2620	10	0.87932	D	0	-8.6696	15.3992	0.74823	1.0:0.0:0.0:0.0	.	883	Q4VNC1	AT134_HUMAN	T	864;883	ENSP00000376238:I864T;ENSP00000339182:I883T	ENSP00000339182:I883T	I	-	2	0	ATP13A4	194638982	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	8.862000	0.92283	2.371000	0.80710	0.533000	0.62120	ATT		0.443	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279	
OXTR	5021	hgsc.bcm.edu	37	3	8794786	8794786	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:8794786G>A	ENST00000316793.3	-	4	1671	c.1047C>T	c.(1045-1047)gcC>gcT	p.A349A	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	349					cell surface receptor signaling pathway (GO:0007166)|digestive tract development (GO:0048565)|eating behavior (GO:0042755)|ERK1 and ERK2 cascade (GO:0070371)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|heart development (GO:0007507)|lactation (GO:0007595)|maternal behavior (GO:0042711)|maternal process involved in parturition (GO:0060137)|memory (GO:0007613)|muscle contraction (GO:0006936)|negative regulation of gastric acid secretion (GO:0060455)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of norepinephrine secretion (GO:0010701)|positive regulation of penile erection (GO:0060406)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of uterine smooth muscle contraction (GO:0070474)|response to amphetamine (GO:0001975)|response to anoxia (GO:0034059)|response to cocaine (GO:0042220)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|sleep (GO:0030431)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|suckling behavior (GO:0001967)|telencephalon development (GO:0021537)	apical plasma membrane (GO:0016324)|cell-cell adherens junction (GO:0005913)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	oxytocin receptor activity (GO:0004990)|peptide hormone binding (GO:0017046)|vasopressin receptor activity (GO:0005000)	p.A349A(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)|Oxytocin(DB00107)	TCAGGTAGCTGGCGGAGCAGC	0.607																																					p.A349A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1047T	3						.						69.0	62.0	65.0					3																	8794786		2203	4300	6503	8769786	SO:0001819	synonymous_variant	5021	exon4				CCDS2570.1	3p25	2012-08-08			ENSG00000180914	ENSG00000180914		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	8529	protein-coding gene	gene with protein product		167055				1313946	Standard	NM_000916		Approved		uc003brc.3	P30559	OTTHUMG00000090537	ENST00000316793.3:c.1047C>T	3.37:g.8794786G>A		Somatic		Capture	SOLID	Phase_I	8769786	NM_000916	Q15071	Silent	SNP	ENST00000316793.3	37	CCDS2570.1																																																																																				0.607	OXTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207061.2		
SRGAP3	9901	hgsc.bcm.edu	37	3	9100070	9100070	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:9100070G>A	ENST00000383836.3	-	7	1315	c.888C>T	c.(886-888)caC>caT	p.H296H	SRGAP3_ENST00000360413.3_Silent_p.H296H|SRGAP3_ENST00000433332.3_5'UTR	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	296	F-BAR domain.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.H296H(1)	SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCAGCCCTTCGTGGCGAGAGG	0.552			T	RAF1	pilocytic astrocytoma																																p.H296H			Dom	yes		3	3p25.3	9901	SLIT-ROBO Rho GTPase activating protein 3		M	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C888T	3						.						201.0	174.0	183.0					3																	9100070		2203	4300	6503	9075070	SO:0001819	synonymous_variant	9901	exon7			AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.888C>T	3.37:g.9100070G>A		Somatic		Capture	SOLID	Phase_I	9075070	NM_014850	Q8IX13|Q8IZV8	Silent	SNP	ENST00000383836.3	37	CCDS2572.1																																																																																				0.552	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3		
LHFPL4	375323	hgsc.bcm.edu	37	3	9547669	9547669	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:9547669G>A	ENST00000287585.6	-	3	910	c.625C>T	c.(625-627)Ctc>Ttc	p.L209F		NM_198560.2	NP_940962.1	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 4	222						integral component of membrane (GO:0016021)		p.L209F(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					TCCGGCTTGAGCTCCTCCTGC	0.602																																					p.L209F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C625T	3						.						99.0	93.0	95.0					3																	9547669		2203	4300	6503	9522669	SO:0001583	missense	375323	exon3			AY278320	CCDS33691.1	3p25.3	2006-06-13			ENSG00000156959	ENSG00000156959			29568	protein-coding gene	gene with protein product		610240				15905332	Standard	NM_198560		Approved		uc003bry.3	Q7Z7J7	OTTHUMG00000155066	ENST00000287585.6:c.625C>T	3.37:g.9547669G>A	ENSP00000287585:p.Leu209Phe	Somatic		Capture	SOLID	Phase_I	9522669	NM_198560	A1L383|A4D0Q5	Missense_Mutation	SNP	ENST00000287585.6	37	CCDS33691.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456540	0.63401	.	.	ENSG00000156959	ENST00000287585	T	0.73575	-0.76	5.49	5.49	0.81192	.	0.453465	0.18608	N	0.136227	T	0.63593	0.2524	N	0.24115	0.695	0.46478	D	0.999066	B	0.19200	0.034	B	0.23852	0.049	T	0.58103	-0.7695	10	0.10636	T	0.68	-20.197	18.984	0.92763	0.0:0.0:1.0:0.0	.	209	Q7Z7J7	LHPL4_HUMAN	F	209	ENSP00000287585:L209F	ENSP00000287585:L209F	L	-	1	0	LHFPL4	9522669	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.258000	0.58822	2.592000	0.87571	0.655000	0.94253	CTC		0.602	LHFPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338298.1	NM_198560	
BRPF1	7862	hgsc.bcm.edu	37	3	9776270	9776270	+	Missense_Mutation	SNP	G	G	A	rs140256539		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:9776270G>A	ENST00000457855.1	+	1	457	c.446G>A	c.(445-447)gGc>gAc	p.G149D	BRPF1_ENST00000383829.2_Missense_Mutation_p.G149D|BRPF1_ENST00000302054.3_Missense_Mutation_p.G149D|BRPF1_ENST00000433861.2_Missense_Mutation_p.G149D|BRPF1_ENST00000424362.1_Missense_Mutation_p.G149D			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	149	Interaction with KAT6A and KAT6B.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G149D(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CCCAAGTCAGGCAAACATAAG	0.557																																					p.G149D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G446A	3						.	G	ASP/GLY,ASP/GLY	0,4406		0,0,2203	81.0	80.0	80.0		446,446	5.8	1.0	3	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	BRPF1	NM_001003694.1,NM_004634.2	94,94	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	149/1221,149/1215	9776270	1,13005	2203	4300	6503	9751270	SO:0001583	missense	7862	exon2			M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.446G>A	3.37:g.9776270G>A	ENSP00000410210:p.Gly149Asp	Somatic		Capture	SOLID	Phase_I	9751270	NM_004634	B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.385720	0.42308	0.0	1.16E-4	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06	5.82	5.82	0.92795	Enhancer of polycomb-like, N-terminal (1);	0.095949	0.64402	D	0.000001	T	0.41766	0.1173	L	0.47716	1.5	0.58432	D	0.999995	B;B;B;B	0.28378	0.209;0.115;0.03;0.14	B;B;B;B	0.35182	0.138;0.187;0.062;0.197	T	0.14952	-1.0454	10	0.22109	T	0.4	.	16.2836	0.82708	0.0:0.1325:0.8675:0.0	.	149;149;149;149	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	D	149	ENSP00000402485:G149D;ENSP00000398863:G149D;ENSP00000373340:G149D;ENSP00000306297:G149D;ENSP00000410210:G149D	ENSP00000306297:G149D	G	+	2	0	BRPF1	9751270	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.530000	0.60595	2.756000	0.94617	0.563000	0.77884	GGC		0.557	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694	
FBXL2	25827	hgsc.bcm.edu	37	3	33415148	33415148	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:33415148G>A	ENST00000484457.1	+	8	625	c.534G>A	c.(532-534)gtG>gtA	p.V178V	FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000538892.1_Intron|FBXL2_ENST00000538181.1_Silent_p.V94V|FBXL2_ENST00000507198.1_Intron	NM_012157.3	NP_036289.3			F-box and leucine-rich repeat protein 2									p.V178V(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						AGGCACTGGTGCGAGGTTGTC	0.532																																					p.V178V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G534A	3						.						102.0	96.0	98.0					3																	33415148		2203	4300	6503	33390152	SO:0001819	synonymous_variant	25827	exon8			AF174589	CCDS2658.1, CCDS54560.1	3p22.3	2011-06-09			ENSG00000153558	ENSG00000153558		"""F-boxes / Leucine-rich repeats"""	13598	protein-coding gene	gene with protein product		605652				10508920, 10531035	Standard	NM_012157		Approved	FBL2, FBL3	uc003cfp.3	Q9UKC9	OTTHUMG00000130745	ENST00000484457.1:c.534G>A	3.37:g.33415148G>A		Somatic		Capture	SOLID	Phase_I	33390152	NM_012157		Silent	SNP	ENST00000484457.1	37	CCDS2658.1																																																																																				0.532	FBXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253245.2	NM_012157	
EXOG	9941	hgsc.bcm.edu	37	3	38548407	38548407	+	Missense_Mutation	SNP	C	C	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:38548407C>A	ENST00000287675.5	+	5	689	c.593C>A	c.(592-594)cCt>cAt	p.P198H	EXOG_ENST00000422077.2_Missense_Mutation_p.P148H|EXOG_ENST00000358249.2_Missense_Mutation_p.P58H|Y_RNA_ENST00000384781.1_RNA	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	198					DNA catabolic process, endonucleolytic (GO:0000737)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.P198H(1)		central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						GTATCTGGGCCTTTGACCTTA	0.348																																					p.P148H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C443A	3						.						130.0	126.0	128.0					3																	38548407		2203	4300	6503	38523411	SO:0001583	missense	9941	exon4			AB020523	CCDS2680.1, CCDS46795.1	3p21.3	2010-05-07	2009-01-08	2009-01-08	ENSG00000157036	ENSG00000157036	3.1.30.-		3347	protein-coding gene	gene with protein product		604051	"""endonuclease G-like 1"", ""endonuclease G-like 2"""	ENDOGL1, ENDOGL2		10231028, 18187503	Standard	NM_005107		Approved	ENGL-a, ENGL, ENGL-b	uc003cih.2	Q9Y2C4	OTTHUMG00000131295	ENST00000287675.5:c.593C>A	3.37:g.38548407C>A	ENSP00000287675:p.Pro198His	Somatic		Capture	SOLID	Phase_I	38523411	NM_001145464	A8K242|B4DVG2|Q3SXM9|Q9Y2C8	Missense_Mutation	SNP	ENST00000287675.5	37	CCDS2680.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979804	0.74360	.	.	ENSG00000157036	ENST00000287675;ENST00000358249;ENST00000422077	T;T;T	0.71934	-0.61;-0.61;-0.61	4.82	4.82	0.62117	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.073033	0.56097	D	0.000038	D	0.89750	0.6805	H	0.97564	4.03	0.48040	D	0.99957	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.93101	0.6508	10	0.87932	D	0	-15.3215	16.6247	0.84967	0.0:1.0:0.0:0.0	.	148;198	Q9Y2C4-4;Q9Y2C4	.;EXOG_HUMAN	H	198;58;148	ENSP00000287675:P198H;ENSP00000350987:P58H;ENSP00000404305:P148H	ENSP00000287675:P198H	P	+	2	0	EXOG	38523411	1.000000	0.71417	0.966000	0.40874	0.934000	0.57294	5.429000	0.66495	2.667000	0.90743	0.655000	0.94253	CCT		0.348	EXOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254063.2	NM_005107	
VIPR1	7433	hgsc.bcm.edu	37	3	42576528	42576528	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:42576528G>A	ENST00000325123.4	+	11	1185	c.1072G>A	c.(1072-1074)Gcc>Acc	p.A358T	VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000610022.1_RNA|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1_ENST00000433647.1_Missense_Mutation_p.A317T|VIPR1-AS1_ENST00000608869.1_RNA|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000452639.3_RNA|VIPR1_ENST00000543411.1_Missense_Mutation_p.A310T|VIPR1_ENST00000438259.2_Missense_Mutation_p.A148T	NM_001251885.1|NM_004624.3	NP_001238814.1|NP_004615.2	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	358					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|muscle contraction (GO:0006936)|positive regulation of cell proliferation (GO:0008284)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	vasoactive intestinal polypeptide receptor activity (GO:0004999)	p.A358T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CATCATGTTCGCCTTCTTTCC	0.522																																					p.A358T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1072A	3						.						193.0	163.0	173.0					3																	42576528		2203	4300	6503	42551532	SO:0001583	missense	7433	exon11			AH005329	CCDS2698.1, CCDS58827.1, CCDS58828.1, CCDS58829.1	3p22	2012-08-10			ENSG00000114812	ENSG00000114812		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12694	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 1"""	192321				7708752	Standard	NM_004624		Approved	VPAC1, RDC1, HVR1, VPAC1R	uc003clf.2	P32241	OTTHUMG00000131792	ENST00000325123.4:c.1072G>A	3.37:g.42576528G>A	ENSP00000327246:p.Ala358Thr	Somatic		Capture	SOLID	Phase_I	42551532	NM_004624	A5JUT9|B3KPV1|B4DEB5|B4DGI4|F5H1F5|G3V0I1|Q15871|Q6P2M6	Missense_Mutation	SNP	ENST00000325123.4	37	CCDS2698.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073045	0.76415	.	.	ENSG00000114812	ENST00000433647;ENST00000543411;ENST00000438259;ENST00000325123	T;T;T;T	0.37915	1.17;1.17;1.17;1.17	5.5	5.5	0.81552	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.62221	0.2410	M	0.70787	2.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	T	0.63659	-0.6587	10	0.62326	D	0.03	.	19.3957	0.94605	0.0:0.0:1.0:0.0	.	331;148;310;358	B4DNY6;B4DEB5;F5H1F5;P32241	.;.;.;VIPR1_HUMAN	T	317;310;148;358	ENSP00000394950:A317T;ENSP00000445701:A310T;ENSP00000415371:A148T;ENSP00000327246:A358T	ENSP00000327246:A358T	A	+	1	0	VIPR1	42551532	1.000000	0.71417	0.981000	0.43875	0.039000	0.13416	8.007000	0.88571	2.596000	0.87737	0.563000	0.77884	GCC		0.522	VIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254728.4	NM_004624	
DAG1	1605	hgsc.bcm.edu	37	3	49568407	49568407	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:49568407G>A	ENST00000539901.1	+	3	1021	c.463G>A	c.(463-465)Gag>Aag	p.E155K	DAG1_ENST00000515359.2_Missense_Mutation_p.E155K|DAG1_ENST00000538711.1_Missense_Mutation_p.E155K|DAG1_ENST00000541308.1_Missense_Mutation_p.E155K|DAG1_ENST00000545947.1_Missense_Mutation_p.E155K|DAG1_ENST00000308775.2_Missense_Mutation_p.E155K	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	155	Required for laminin recognition.				basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)	p.E155K(1)		NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GTTCTCCATCGAGGTCTACCC	0.582																																					p.E155K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G463A	3						.						69.0	60.0	63.0					3																	49568407		2203	4300	6503	49543411	SO:0001583	missense	1605	exon3			L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"""alpha-dystroglycan"", ""dystrophin-associated glycoprotein-1"", ""beta-dystroglycan"""	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.463G>A	3.37:g.49568407G>A	ENSP00000439334:p.Glu155Lys	Somatic		Capture	SOLID	Phase_I	49543411	NM_004393	A8K6M7|Q969J9	Missense_Mutation	SNP	ENST00000539901.1	37	CCDS2799.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.431283	0.83776	.	.	ENSG00000173402	ENST00000515359;ENST00000308775;ENST00000545947;ENST00000541308;ENST00000539901;ENST00000538711	D;D;D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96;-4.96;-4.96	5.92	5.92	0.95590	Dystroglycan-type cadherin-like (1);Cadherin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.98346	0.9451	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	P	0.59424	0.857	D	0.98225	1.0480	9	.	.	.	-30.6982	19.0928	0.93235	0.0:0.0:1.0:0.0	.	155	Q14118	DAG1_HUMAN	K	155	ENSP00000440705:E155K;ENSP00000312435:E155K;ENSP00000442600:E155K;ENSP00000440590:E155K;ENSP00000439334:E155K;ENSP00000438421:E155K	.	E	+	1	0	DAG1	49543411	1.000000	0.71417	0.944000	0.38274	0.939000	0.58152	6.317000	0.72862	2.804000	0.96469	0.655000	0.94253	GAG		0.582	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346326.1		
BSN	8927	hgsc.bcm.edu	37	3	49693551	49693551	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:49693551C>T	ENST00000296452.4	+	5	6676	c.6562C>T	c.(6562-6564)Cgt>Tgt	p.R2188C		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2188					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)	p.R2188C(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGCCACTGTACGTGCAGCTGA	0.602																																					p.R2188C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6562T	3						.						57.0	49.0	52.0					3																	49693551		2203	4299	6502	49668555	SO:0001583	missense	8927	exon5			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.6562C>T	3.37:g.49693551C>T	ENSP00000296452:p.Arg2188Cys	Somatic		Capture	SOLID	Phase_I	49668555	NM_003458	O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	9.297	1.052203	0.19827	.	.	ENSG00000164061	ENST00000296452	T	0.39592	1.07	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.62877	0.2464	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65639	-0.6119	10	0.87932	D	0	-7.3959	13.0235	0.58802	0.2818:0.7182:0.0:0.0	.	2188	Q9UPA5	BSN_HUMAN	C	2188	ENSP00000296452:R2188C	ENSP00000296452:R2188C	R	+	1	0	BSN	49668555	0.983000	0.35010	0.905000	0.35620	0.497000	0.33675	2.545000	0.45769	2.605000	0.88082	0.655000	0.94253	CGT		0.602	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458	
GRM2	2912	hgsc.bcm.edu	37	3	51749481	51749481	+	Silent	SNP	C	C	T	rs145866154		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:51749481C>T	ENST00000395052.3	+	4	1926	c.1692C>T	c.(1690-1692)ggC>ggT	p.G564G	GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	564					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.G564G(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TCCGCTGGGGCGATGCCTGGG	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		19774	0.0		0.001	False		,,,				2504	0.0				p.G564G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1692T	3						.	C	,	0,4406		0,0,2203	48.0	44.0	46.0		1692,	-6.0	0.9	3	dbSNP_134	46	7,8593		0,7,4293	no	coding-synonymous,utr-5	GRM2	NM_000839.3,NM_001130063.1	,	0,7,6496	TT,TC,CC		0.0814,0.0,0.0538	,	564/873,	51749481	7,12999	2203	4300	6503	51724521	SO:0001819	synonymous_variant	2912	exon4			L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.1692C>T	3.37:g.51749481C>T		Somatic		Capture	SOLID	Phase_I	51724521	NM_000839	B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Silent	SNP	ENST00000395052.3	37	CCDS2834.1																																																																																				0.622	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1		
ITIH1	3697	hgsc.bcm.edu	37	3	52816027	52816027	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:52816027C>T	ENST00000273283.2	+	7	783	c.759C>T	c.(757-759)aaC>aaT	p.N253N	ITIH1_ENST00000487686.1_3'UTR|ITIH1_ENST00000542827.1_Silent_p.N253N|ITIH1_ENST00000540715.1_Silent_p.N111N|ITIH1_ENST00000537050.1_5'UTR	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	253					hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.N253N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CCTTACTGAACGGGCACTTCA	0.587																																					p.N111N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C333T	3						.						160.0	125.0	137.0					3																	52816027		2203	4300	6503	52791067	SO:0001819	synonymous_variant	3697	exon5				CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.759C>T	3.37:g.52816027C>T		Somatic		Capture	SOLID	Phase_I	52791067	NM_001166434	A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Silent	SNP	ENST00000273283.2	37	CCDS2864.1																																																																																				0.587	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215	
CACNA1D	776	hgsc.bcm.edu	37	3	53531424	53531424	+	Missense_Mutation	SNP	G	G	A	rs533046755		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:53531424G>A	ENST00000350061.5	+	2	824	c.313G>A	c.(313-315)Gcc>Acc	p.A105T	CACNA1D_ENST00000422281.2_Missense_Mutation_p.A105T|CACNA1D_ENST00000288139.4_Missense_Mutation_p.A105T	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	105					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)	p.A105T(4)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ACCTGCCCGCGCCCTTTTCTG	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		18651	0.0		0.001	False		,,,				2504	0.0				p.A105T												.	.	4	Substitution - Missense(4)	central_nervous_system(2)|large_intestine(1)|lung(1)	c.G313A	3						.						102.0	117.0	112.0					3																	53531424		2203	4300	6503	53506464	SO:0001583	missense	776	exon2			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.313G>A	3.37:g.53531424G>A	ENSP00000288133:p.Ala105Thr	Somatic		Capture	SOLID	Phase_I	53506464	NM_001128839	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	34	5.378315	0.95945	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281	T;T;T	0.54866	0.55;0.55;0.55	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000007	T	0.72938	0.3523	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	1.0;0.98;1.0	D;B;D	0.91635	0.999;0.291;0.999	T	0.73531	-0.3953	10	0.62326	D	0.03	.	19.8164	0.96569	0.0:0.0:1.0:0.0	.	105;105;105	B0FYA3;Q01668;Q01668-2	.;CAC1D_HUMAN;.	T	105	ENSP00000288133:A105T;ENSP00000288139:A105T;ENSP00000409174:A105T	ENSP00000288139:A105T	A	+	1	0	CACNA1D	53506464	1.000000	0.71417	0.972000	0.41901	0.999000	0.98932	9.869000	0.99810	2.689000	0.91719	0.561000	0.74099	GCC		0.478	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720	
ARF4	378	hgsc.bcm.edu	37	3	57561285	57561285	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:57561285C>T	ENST00000303436.6	-	5	713	c.446G>A	c.(445-447)cGt>cAt	p.R149H	ARF4_ENST00000496292.1_Missense_Mutation_p.R122H|ARF4_ENST00000489843.1_Missense_Mutation_p.R40H	NM_001660.3	NP_001651.1	P18085	ARF4_HUMAN	ADP-ribosylation factor 4	149					activation of phospholipase D activity (GO:0031584)|brain development (GO:0007420)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein transport (GO:0015031)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to axon injury (GO:0048678)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	epidermal growth factor receptor binding (GO:0005154)|GTP binding (GO:0005525)	p.R149H(2)		large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0449)|Kidney(284;0.0561)		TGTTCTGTTACGAAGAGACTG	0.353																																					p.R149H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G446A	3						.						107.0	96.0	100.0					3																	57561285		2203	4300	6503	57536325	SO:0001583	missense	378	exon5			M36341	CCDS2884.1	3p21.2-p21.1	2007-03-19			ENSG00000168374	ENSG00000168374		"""ADP-ribosylation factors"""	655	protein-coding gene	gene with protein product		601177	"""ADP-ribosylation factor 2"""	ARF2		2107548	Standard	NM_001660		Approved		uc003dix.4	P18085	OTTHUMG00000158601	ENST00000303436.6:c.446G>A	3.37:g.57561285C>T	ENSP00000306010:p.Arg149His	Somatic		Capture	SOLID	Phase_I	57536325	NM_001660	B2R7J7|P21371	Missense_Mutation	SNP	ENST00000303436.6	37	CCDS2884.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833214	0.71258	.	.	ENSG00000168374	ENST00000303436;ENST00000496292	D;D	0.82984	-1.67;-1.67	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.84768	0.5545	M	0.81341	2.54	0.80722	D	1	B;B	0.28208	0.203;0.037	B;B	0.19666	0.026;0.019	T	0.83074	-0.0141	10	0.62326	D	0.03	-1.2058	19.946	0.97183	0.0:1.0:0.0:0.0	.	122;149	C9JAK5;P18085	.;ARF4_HUMAN	H	149;122	ENSP00000306010:R149H;ENSP00000417501:R122H	ENSP00000306010:R149H	R	-	2	0	ARF4	57536325	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.781000	0.68964	2.711000	0.92665	0.591000	0.81541	CGT		0.353	ARF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351443.1	NM_001660	
LRIG1	26018	hgsc.bcm.edu	37	3	66460606	66460606	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:66460606G>A	ENST00000273261.3	-	7	1406	c.882C>T	c.(880-882)tcC>tcT	p.S294S	LRIG1_ENST00000383703.3_Silent_p.S294S	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	294					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)		p.S294S(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TGCGAGCGATGGAATTGTTGC	0.567																																					p.S294S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C882T	3						.						195.0	193.0	193.0					3																	66460606		2203	4300	6503	66543296	SO:0001819	synonymous_variant	26018	exon7			AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.882C>T	3.37:g.66460606G>A		Somatic		Capture	SOLID	Phase_I	66543296	NM_015541	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Silent	SNP	ENST00000273261.3	37	CCDS33783.1																																																																																				0.567	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541	
EPHA3	2042	hgsc.bcm.edu	37	3	89259540	89259540	+	Silent	SNP	G	G	T	rs143609637		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:89259540G>T	ENST00000336596.2	+	3	909	c.684G>T	c.(682-684)ggG>ggT	p.G228G	EPHA3_ENST00000494014.1_Silent_p.G228G|EPHA3_ENST00000452448.2_Silent_p.G228G	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	228	Cys-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.G228G(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AGGTTAGAGGGTCTTGTGTCA	0.478										TSP Lung(6;0.00050)																											p.G228G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G684T	3						.						154.0	148.0	150.0					3																	89259540		2203	4300	6503	89342230	SO:0001819	synonymous_variant	2042	exon3			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.684G>T	3.37:g.89259540G>T		Somatic		Capture	SOLID	Phase_I	89342230	NM_005233	Q9H2V3|Q9H2V4	Silent	SNP	ENST00000336596.2	37	CCDS2922.1																																																																																				0.478	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233	
NSUN3	63899	hgsc.bcm.edu	37	3	93803286	93803286	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:93803286C>T	ENST00000314622.4	+	3	669	c.458C>T	c.(457-459)gCt>gTt	p.A153V		NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	153							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)	p.A153V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						CTGCAGTGTGCTTGTCCAGGT	0.428																																					p.A153V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C458T	3						.						71.0	72.0	72.0					3																	93803286		2195	4265	6460	95285976	SO:0001583	missense	63899	exon3			BC020602	CCDS2927.1	3q11.2	2009-11-23	2009-11-23		ENSG00000178694	ENSG00000178694		"""NOP2/Sun domain containing"""	26208	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 3"", ""NOL1/NOP2/Sun domain family, member 3"""			12477932	Standard	NM_022072		Approved	FLJ22609	uc003drl.1	Q9H649	OTTHUMG00000159025	ENST00000314622.4:c.458C>T	3.37:g.93803286C>T	ENSP00000318986:p.Ala153Val	Somatic		Capture	SOLID	Phase_I	95285976	NM_022072	Q6PG41|Q8IXG9|Q9H6M2	Missense_Mutation	SNP	ENST00000314622.4	37	CCDS2927.1	.	.	.	.	.	.	.	.	.	.	C	35	5.434720	0.96150	.	.	ENSG00000178694	ENST00000314622	T	0.07444	3.19	5.81	5.81	0.92471	Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	0.000000	0.85682	D	0.000000	T	0.30916	0.0780	M	0.71920	2.185	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00171	-1.1959	10	0.41790	T	0.15	-18.6122	20.0782	0.97758	0.0:1.0:0.0:0.0	.	153	Q9H649	NSUN3_HUMAN	V	153	ENSP00000318986:A153V	ENSP00000318986:A153V	A	+	2	0	NSUN3	95285976	1.000000	0.71417	0.982000	0.44146	0.900000	0.52787	7.818000	0.86416	2.746000	0.94184	0.655000	0.94253	GCT		0.428	NSUN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352934.1	NM_022072	
LMLN	89782	hgsc.bcm.edu	37	3	197746175	197746175	+	Missense_Mutation	SNP	G	G	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr3:197746175G>T	ENST00000330198.4	+	12	1306	c.1284G>T	c.(1282-1284)caG>caT	p.Q428H	LMLN_ENST00000420910.2_Missense_Mutation_p.Q465H|LMLN_ENST00000332636.5_Missense_Mutation_p.Q376H|LMLN_ENST00000482695.1_Missense_Mutation_p.Q413H	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	428					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.Q428H(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		ACCCACTGCAGCTAACTTGCA	0.473																																					p.Q428H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1284T	3						.						153.0	136.0	142.0					3																	197746175		2203	4300	6503	199230572	SO:0001583	missense	89782	exon12			AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.1284G>T	3.37:g.197746175G>T	ENSP00000328829:p.Gln428His	Somatic		Capture	SOLID	Phase_I	199230572	NM_033029	B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Missense_Mutation	SNP	ENST00000330198.4	37	CCDS3332.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208621	0.58343	.	.	ENSG00000185621	ENST00000482695;ENST00000330198;ENST00000420910;ENST00000332636	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.02	1.06	0.20224	.	0.000000	0.85682	D	0.000000	T	0.55242	0.1908	M	0.73962	2.25	0.48975	D	0.999733	B;D;D;P;P	0.89917	0.444;0.997;1.0;0.726;0.485	B;D;D;P;B	0.74023	0.345;0.976;0.982;0.566;0.333	T	0.52305	-0.8593	10	0.56958	D	0.05	-16.5516	4.5551	0.12133	0.3456:0.1537:0.5007:0.0	.	428;376;465;457;413	Q96KR4;F8WCE5;F8WB28;B4DR62;Q96KR4-2	LMLN_HUMAN;.;.;.;.	H	413;428;465;376	ENSP00000418324:Q413H;ENSP00000328829:Q428H;ENSP00000410926:Q465H;ENSP00000328611:Q376H	ENSP00000328829:Q428H	Q	+	3	2	LMLN	199230572	1.000000	0.71417	0.941000	0.38009	0.960000	0.62799	2.065000	0.41442	0.320000	0.23234	0.650000	0.86243	CAG		0.473	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029	
ANO4	121601	hgsc.bcm.edu	37	12	101520843	101520843	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr12:101520843C>T	ENST00000392977.3	+	27	3073	c.2863C>T	c.(2863-2865)Ccg>Tcg	p.P955S	ANO4_ENST00000550015.1_Missense_Mutation_p.P475S|ANO4_ENST00000392979.3_Missense_Mutation_p.P920S|ANO4_ENST00000299222.9_Missense_Mutation_p.P475S			Q32M45	ANO4_HUMAN	anoctamin 4	955					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.P920S(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CAACGAGTGGCCGTGACCATG	0.488										HNSCC(74;0.22)																											p.P920S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2758T	12						.						98.0	67.0	77.0					12																	101520843		2203	4300	6503	100044974	SO:0001583	missense	121601	exon26			AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2863C>T	12.37:g.101520843C>T	ENSP00000376703:p.Pro955Ser	Somatic		Capture	SOLID	Phase_I	100044974	NM_178826	Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37		.	.	.	.	.	.	.	.	.	.	C	26.6	4.753853	0.89843	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.71698	-0.54;-0.27;-0.59;-0.27	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.78039	0.4221	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.80165	-0.1496	10	0.87932	D	0	.	19.9299	0.97115	0.0:1.0:0.0:0.0	.	475;955;920	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	S	920;475;955;475	ENSP00000376705:P920S;ENSP00000299222:P475S;ENSP00000376703:P955S;ENSP00000450192:P475S	ENSP00000299222:P475S	P	+	1	0	ANO4	100044974	1.000000	0.71417	0.998000	0.56505	0.697000	0.40408	7.772000	0.85439	2.769000	0.95229	0.655000	0.94253	CCG		0.488	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826	
MYBPC1	4604	hgsc.bcm.edu	37	12	102040628	102040628	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr12:102040628C>T	ENST00000550270.1	+	11	978	c.978C>T	c.(976-978)gcC>gcT	p.A326A	MYBPC1_ENST00000547405.1_Silent_p.A300A|MYBPC1_ENST00000541119.1_Silent_p.A314A|MYBPC1_ENST00000551300.1_Silent_p.A227A|MYBPC1_ENST00000392934.3_Silent_p.A313A|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000547509.1_Silent_p.A312A|MYBPC1_ENST00000452455.2_Silent_p.A326A|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000441232.1_Silent_p.A326A|MYBPC1_ENST00000549145.1_Silent_p.A339A|MYBPC1_ENST00000545503.2_Silent_p.A326A|MYBPC1_ENST00000360610.2_Silent_p.A326A|MYBPC1_ENST00000361685.2_Silent_p.A351A|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000553190.1_Silent_p.A326A|MYBPC1_ENST00000536007.1_Silent_p.A307A|MYBPC1_ENST00000361466.2_Silent_p.A351A			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	326	Ig-like C2-type 2.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.A351A(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ATGTGACAGCCGGTGATGAGA	0.403																																					p.A351A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1053T	12						.						113.0	108.0	110.0					12																	102040628		2203	4300	6503	100564759	SO:0001819	synonymous_variant	4604	exon13				CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.978C>T	12.37:g.102040628C>T		Somatic		Capture	SOLID	Phase_I	100564759	NM_002465	B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Silent	SNP	ENST00000550270.1	37	CCDS9085.1																																																																																				0.403	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1		
NUP37	79023	hgsc.bcm.edu	37	12	102471144	102471144	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr12:102471144G>A	ENST00000552283.1	-	7	817	c.678C>T	c.(676-678)gcC>gcT	p.A226A	NUP37_ENST00000543021.1_5'Flank|RP11-554E23.4_ENST00000552707.1_RNA|NUP37_ENST00000251074.1_Silent_p.A226A			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	226					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)		p.A226A(1)		endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						TTCCTGCAACGGCTCCAACTT	0.388																																					p.A226A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C678T	12						.						141.0	140.0	140.0					12																	102471144		2203	4300	6503	100995274	SO:0001819	synonymous_variant	79023	exon6			AF514994	CCDS9089.1	12q23.2	2014-08-12			ENSG00000075188	ENSG00000075188		"""WD repeat domain containing"""	29929	protein-coding gene	gene with protein product		609264				12196509	Standard	NM_024057		Approved	MGC5585, FLJ22618	uc001tjc.3	Q8NFH4	OTTHUMG00000170478	ENST00000552283.1:c.678C>T	12.37:g.102471144G>A		Somatic		Capture	SOLID	Phase_I	100995274	NM_024057	Q9H644	Silent	SNP	ENST00000552283.1	37	CCDS9089.1																																																																																				0.388	NUP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409330.1	NM_024057	
TRPV4	59341	hgsc.bcm.edu	37	12	110222191	110222191	+	Silent	SNP	G	G	A	rs116685089	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr12:110222191G>A	ENST00000418703.2	-	14	2482	c.2388C>T	c.(2386-2388)aaC>aaT	p.N796N	TRPV4_ENST00000261740.2_Silent_p.N796N|TRPV4_ENST00000536838.1_Silent_p.N762N|TRPV4_ENST00000346520.2_Silent_p.N736N|TRPV4_ENST00000541794.1_Silent_p.N749N|TRPV4_ENST00000544971.1_Silent_p.N689N|TRPV4_ENST00000392719.2_Silent_p.N749N|TRPV4_ENST00000537083.1_Silent_p.N736N	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	796					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)	p.N796N(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CCGGGTCCTCGTTGATGATGC	0.622													g|||	2	0.000399361	0.0008	0.0	5008	,	,		15018	0.001		0.0	False		,,,				2504	0.0				p.N796N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2388T	12						.						165.0	140.0	148.0					12																	110222191		2203	4300	6503	108706574	SO:0001819	synonymous_variant	59341	exon15			AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.2388C>T	12.37:g.110222191G>A		Somatic		Capture	SOLID	Phase_I	108706574	NM_021625	B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Silent	SNP	ENST00000418703.2	37	CCDS9134.1																																																																																				0.622	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625	
ANAPC7	51434	hgsc.bcm.edu	37	12	110815362	110815362	+	Missense_Mutation	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr12:110815362T>C	ENST00000455511.3	-	9	1295	c.1295A>G	c.(1294-1296)aAc>aGc	p.N432S	ANAPC7_ENST00000450008.2_Missense_Mutation_p.N432S|ANAPC7_ENST00000481473.1_5'UTR	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	432					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)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)	p.N398S(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						TTTGTAAACGTTGTTAGCCAT	0.403																																					p.N432S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1295G	12						.						212.0	181.0	191.0					12																	110815362		2203	4300	6503	109299745	SO:0001583	missense	51434	exon9			AF191340	CCDS9145.2, CCDS44971.1	12q13.12	2013-01-10			ENSG00000196510	ENSG00000196510		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	17380	protein-coding gene	gene with protein product		606949					Standard	NM_016238		Approved	APC7	uc001tqo.2	Q9UJX3	OTTHUMG00000157009	ENST00000455511.3:c.1295A>G	12.37:g.110815362T>C	ENSP00000394394:p.Asn432Ser	Somatic		Capture	SOLID	Phase_I	109299745	NM_001137664	Q96AC4|Q96GF4|Q9BU24|Q9NT16	Missense_Mutation	SNP	ENST00000455511.3	37	CCDS9145.2	.	.	.	.	.	.	.	.	.	.	T	13.13	2.145638	0.37923	.	.	ENSG00000196510	ENST00000455511;ENST00000481473;ENST00000486321;ENST00000450008;ENST00000471602	T;T	0.78003	-1.14;0.68	6.03	6.03	0.97812	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.78419	0.4280	N	0.13235	0.315	0.58432	D	0.999997	D;B	0.56035	0.974;0.013	D;B	0.70487	0.969;0.005	T	0.76881	-0.2795	10	0.23891	T	0.37	-21.6419	16.5582	0.84512	0.0:0.0:0.0:1.0	.	432;432	Q9UJX3-2;Q9UJX3	.;APC7_HUMAN	S	432;6;30;432;125	ENSP00000394394:N432S;ENSP00000402314:N432S	ENSP00000402314:N432S	N	-	2	0	ANAPC7	109299745	1.000000	0.71417	0.991000	0.47740	0.985000	0.73830	7.698000	0.84413	2.308000	0.77769	0.533000	0.62120	AAC		0.403	ANAPC7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347075.3	NM_016238	
DTX1	1840	hgsc.bcm.edu	37	12	113533182	113533182	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr12:113533182G>A	ENST00000257600.3	+	8	2104	c.1601G>A	c.(1600-1602)cGc>cAc	p.R534H	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	534					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R534H(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GGATTCCCTCGCCACTGCTAT	0.612																																					p.R534H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1601A	12						.						66.0	70.0	69.0					12																	113533182		2203	4300	6503	112017565	SO:0001583	missense	1840	exon8			AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1601G>A	12.37:g.113533182G>A	ENSP00000257600:p.Arg534His	Somatic		Capture	SOLID	Phase_I	112017565	NM_004416	O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	G	33	5.212931	0.95069	.	.	ENSG00000135144	ENST00000257600	T	0.63580	-0.05	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	D	0.84156	0.5410	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88999	0.3420	10	0.87932	D	0	-10.8209	16.305	0.82844	0.0:0.0:1.0:0.0	.	534	Q86Y01	DTX1_HUMAN	H	534	ENSP00000257600:R534H	ENSP00000257600:R534H	R	+	2	0	DTX1	112017565	1.000000	0.71417	0.938000	0.37757	0.988000	0.76386	9.636000	0.98440	2.114000	0.64651	0.561000	0.74099	CGC		0.612	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2		
IQSEC3	440073	hgsc.bcm.edu	37	12	280321	280321	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr12:280321G>A	ENST00000538872.1	+	13	3226	c.3108G>A	c.(3106-3108)acG>acA	p.T1036T	IQSEC3_ENST00000382841.2_Silent_p.T733T|RP11-598F7.6_ENST00000537295.1_lincRNA|IQSEC3_ENST00000537151.1_3'UTR|IQSEC3_ENST00000326261.4_Silent_p.T1036T			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	1036					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.T733T(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CGGAGAGCACGGTGGAGGTAA	0.582																																					p.T1036T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3108A	12						.						150.0	150.0	150.0					12																	280321		2203	4300	6503	150582	SO:0001819	synonymous_variant	440073	exon13			AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.3108G>A	12.37:g.280321G>A		Somatic		Capture	SOLID	Phase_I	150582	NM_001170738	A6NIF2|A6NKV9|Q8TB43	Silent	SNP	ENST00000538872.1	37	CCDS53728.1																																																																																				0.582	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902	
PTMS	5763	hgsc.bcm.edu	37	12	6879330	6879330	+	Silent	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr12:6879330A>G	ENST00000309083.6	+	4	533	c.204A>G	c.(202-204)gaA>gaG	p.E68E	LAG3_ENST00000441671.2_5'Flank|PTMS_ENST00000389462.4_Missense_Mutation_p.K94R|PTMS_ENST00000538057.1_3'UTR|LAG3_ENST00000203629.2_5'Flank|MLF2_ENST00000539187.1_5'Flank	NM_002824.4	NP_002815.3	P20962	PTMS_HUMAN	parathymosin	68	Asp/Glu-rich (acidic).				DNA replication (GO:0006260)|immune system process (GO:0002376)	nucleus (GO:0005634)		p.E68E(1)		endometrium(2)|large_intestine(2)|liver(1)	5						CAGATGAGGAAGAAGAAGAAG	0.612																																					p.E68E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A204G	12						.						39.0	36.0	37.0					12																	6879330		2203	4300	6503	6749591	SO:0001819	synonymous_variant	5763	exon4				CCDS8560.1	12p13	2008-07-10				ENSG00000159335			9629	protein-coding gene	gene with protein product		168440				15716277	Standard	NM_002824		Approved	ParaT	uc001qqq.3	P20962		ENST00000309083.6:c.204A>G	12.37:g.6879330A>G		Somatic		Capture	SOLID	Phase_I	6749591	NM_002824		Silent	SNP	ENST00000309083.6	37	CCDS8560.1	.	.	.	.	.	.	.	.	.	.	A	9.855	1.194706	0.22037	.	.	ENSG00000159335	ENST00000389462	.	.	.	3.65	2.5	0.30297	.	.	.	.	.	T	0.59622	0.2207	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58691	-0.7592	5	0.87932	D	0	-9.9979	4.9121	0.13827	0.8519:0.0:0.1481:0.0	.	.	.	.	R	94	.	ENSP00000374113:K94R	K	+	2	0	PTMS	6749591	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.380000	0.34351	0.513000	0.28278	0.248000	0.18094	AAG		0.612	PTMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402841.1		
CLSTN3	9746	hgsc.bcm.edu	37	12	7301707	7301707	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr12:7301707G>A	ENST00000266546.6	+	13	2437	c.1987G>A	c.(1987-1989)Ggc>Agc	p.G663S	CLSTN3_ENST00000537408.1_Missense_Mutation_p.G675S	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	663					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.G663S(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GGGAACCAACGGCGTCCCTTT	0.572																																					p.G663S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1987A	12						.						78.0	65.0	69.0					12																	7301707		2203	4300	6503	7192974	SO:0001583	missense	9746	exon13			AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.1987G>A	12.37:g.7301707G>A	ENSP00000266546:p.Gly663Ser	Somatic		Capture	SOLID	Phase_I	7192974	NM_014718	D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762877	0.89932	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.36157	1.27;1.27	5.71	5.71	0.89125	.	0.053065	0.85682	D	0.000000	T	0.64638	0.2616	M	0.79011	2.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.67047	-0.5769	10	0.87932	D	0	-28.2692	19.8575	0.96767	0.0:0.0:1.0:0.0	.	675;663	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	S	663;675	ENSP00000266546:G663S;ENSP00000440679:G675S	ENSP00000266546:G663S	G	+	1	0	CLSTN3	7192974	1.000000	0.71417	0.991000	0.47740	0.410000	0.31052	9.869000	0.99810	2.698000	0.92095	0.561000	0.74099	GGC		0.572	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718	
PZP	5858	hgsc.bcm.edu	37	12	9344831	9344831	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr12:9344831C>T	ENST00000261336.2	-	13	1532	c.1504G>A	c.(1504-1506)Gtc>Atc	p.V502I	PZP_ENST00000381997.2_Missense_Mutation_p.V371I	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	502					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.V371I(1)|p.V502I(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CCAGATCTGACGATGACTCCC	0.478																																					p.V502I	Melanoma(125;1402 1695 4685 34487 38571)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1504A	12						.						111.0	94.0	100.0					12																	9344831		2203	4300	6503	9236098	SO:0001583	missense	5858	exon13			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.1504G>A	12.37:g.9344831C>T	ENSP00000261336:p.Val502Ile	Somatic		Capture	SOLID	Phase_I	9236098	NM_002864	A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	C	6.393	0.440706	0.12104	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.67865	-0.29;-0.29	3.56	-6.55	0.01854	Alpha-2-macroglobulin, N-terminal 2 (1);	0.962457	0.08472	N	0.940837	T	0.49864	0.1582	L	0.51422	1.61	0.09310	N	1	P;B	0.36378	0.55;0.024	B;B	0.34346	0.18;0.014	T	0.33854	-0.9852	10	0.25106	T	0.35	.	5.6607	0.17667	0.1279:0.5003:0.0:0.3718	.	371;502	P20742-2;P20742	.;PZP_HUMAN	I	502;371	ENSP00000261336:V502I;ENSP00000371427:V371I	ENSP00000261336:V502I	V	-	1	0	PZP	9236098	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-2.500000	0.00967	-1.851000	0.01168	-0.373000	0.07131	GTC		0.478	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864	
KLRB1	3820	hgsc.bcm.edu	37	12	9750741	9750741	+	Missense_Mutation	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr12:9750741A>G	ENST00000229402.3	-	5	477	c.431T>C	c.(430-432)cTg>cCg	p.L144P		NM_002258.2	NP_002249.1	Q12918	KLRB1_HUMAN	killer cell lectin-like receptor subfamily B, member 1	144	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.L144P(1)		endometrium(2)|large_intestine(6)|lung(4)	12						GTCACGTATCAGGTTCTGTGT	0.338																																					p.L144P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T431C	12						.						46.0	41.0	43.0					12																	9750741		2202	4295	6497	9642008	SO:0001583	missense	3820	exon5			U11276	CCDS8601.1	12p13	2014-05-22			ENSG00000111796	ENSG00000111796		"""Killer cell lectin-like receptors"", ""CD molecules"", ""C-type lectin domain containing"""	6373	protein-coding gene	gene with protein product		602890		NKR		8077657	Standard	NM_002258		Approved	CD161, NKR-P1, NKR-P1A, hNKR-P1A, CLEC5B	uc010sgt.2	Q12918	OTTHUMG00000168581	ENST00000229402.3:c.431T>C	12.37:g.9750741A>G	ENSP00000229402:p.Leu144Pro	Somatic		Capture	SOLID	Phase_I	9642008	NM_002258	Q24K24	Missense_Mutation	SNP	ENST00000229402.3	37	CCDS8601.1	.	.	.	.	.	.	.	.	.	.	A	6.232	0.410954	0.11812	.	.	ENSG00000111796	ENST00000229402	T	0.29397	1.57	2.82	-5.64	0.02466	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	1.894860	0.03327	N	0.192807	T	0.51210	0.1661	M	0.86651	2.83	0.09310	N	1	D	0.69078	0.997	D	0.69142	0.962	T	0.59172	-0.7504	10	0.56958	D	0.05	8.4276	1.3175	0.02110	0.1844:0.2855:0.107:0.4232	.	144	Q12918	KLRB1_HUMAN	P	144	ENSP00000229402:L144P	ENSP00000229402:L144P	L	-	2	0	KLRB1	9642008	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.795000	0.00764	-1.895000	0.01104	-1.385000	0.01166	CTG		0.338	KLRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400280.1	NM_002258	
EPS8	2059	hgsc.bcm.edu	37	12	15776136	15776136	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr12:15776136C>T	ENST00000281172.5	-	20	2747	c.2311G>A	c.(2311-2313)Gcg>Acg	p.A771T	EPS8_ENST00000542903.1_Missense_Mutation_p.A511T|EPS8_ENST00000543612.1_Missense_Mutation_p.A771T|EPS8_ENST00000540613.1_Missense_Mutation_p.A511T|EPS8_ENST00000543523.1_Missense_Mutation_p.A771T	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	771	Effector region. {ECO:0000250}.|Helix bundle 4. {ECO:0000250}.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)	p.A771T(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TAGACTCTCGCCCCTTCAGGG	0.398																																					p.A771T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2311A	12						.						122.0	125.0	124.0					12																	15776136		2203	4300	6503	15667403	SO:0001583	missense	2059	exon20			U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.2311G>A	12.37:g.15776136C>T	ENSP00000281172:p.Ala771Thr	Somatic		Capture	SOLID	Phase_I	15667403	NM_004447	A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	ENST00000281172.5	37	CCDS31753.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.878886	0.51801	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000540613;ENST00000542903	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	5.66	3.74	0.42951	.	0.262459	0.37761	N	0.001958	T	0.22475	0.0542	L	0.60067	1.865	0.40865	D	0.983868	B	0.22909	0.077	B	0.27076	0.076	T	0.07290	-1.0780	10	0.56958	D	0.05	-8.6263	9.9162	0.41436	0.2596:0.5141:0.2263:0.0	.	771	Q12929	EPS8_HUMAN	T	771;771;771;511;511	ENSP00000441867:A771T;ENSP00000281172:A771T;ENSP00000442388:A771T;ENSP00000441888:A511T;ENSP00000437806:A511T	ENSP00000281172:A771T	A	-	1	0	EPS8	15667403	0.893000	0.30496	1.000000	0.80357	0.990000	0.78478	1.787000	0.38704	1.363000	0.46019	0.650000	0.86243	GCG		0.398	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1		
EPS8	2059	hgsc.bcm.edu	37	12	15814989	15814989	+	Missense_Mutation	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr12:15814989T>C	ENST00000281172.5	-	9	1217	c.781A>G	c.(781-783)Atg>Gtg	p.M261V	EPS8_ENST00000542903.1_Start_Codon_SNP_p.M1V|EPS8_ENST00000543612.1_Missense_Mutation_p.M261V|EPS8_ENST00000540613.1_Start_Codon_SNP_p.M1V|EPS8_ENST00000543523.1_Missense_Mutation_p.M261V	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	261					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)	p.M261V(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		GCTGCCATCATCTCAGGTGTT	0.388																																					p.M261V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A781G	12						.						242.0	232.0	235.0					12																	15814989		2203	4300	6503	15706256	SO:0001583	missense	2059	exon9			U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.781A>G	12.37:g.15814989T>C	ENSP00000281172:p.Met261Val	Somatic		Capture	SOLID	Phase_I	15706256	NM_004447	A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	ENST00000281172.5	37	CCDS31753.1	.	.	.	.	.	.	.	.	.	.	T	8.769	0.925442	0.18056	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000540613;ENST00000542903;ENST00000543223	T;T;T;T;T	0.39997	1.05;1.05;1.05;3.06;3.06	4.91	1.32	0.21799	.	0.198972	0.51477	D	0.000086	T	0.25717	0.0626	L	0.39085	1.19	0.36120	D	0.8454	B	0.02656	0.0	B	0.04013	0.001	T	0.30327	-0.9982	10	0.06099	T	0.92	-8.8286	9.71	0.40240	0.0:0.169:0.0:0.831	.	261	Q12929	EPS8_HUMAN	V	261;261;261;1;1;261	ENSP00000441867:M261V;ENSP00000281172:M261V;ENSP00000442388:M261V;ENSP00000441888:M1V;ENSP00000437806:M1V	ENSP00000281172:M261V	M	-	1	0	EPS8	15706256	1.000000	0.71417	0.988000	0.46212	0.956000	0.61745	3.165000	0.50778	0.068000	0.16574	0.482000	0.46254	ATG		0.388	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1		
PTHLH	5744	hgsc.bcm.edu	37	12	28122398	28122398	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr12:28122398G>A	ENST00000545234.1	-	4	570	c.30C>T	c.(28-30)agC>agT	p.S10S	RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000535992.1_Silent_p.S10S|PTHLH_ENST00000538310.1_Silent_p.S10S|PTHLH_ENST00000354417.3_Silent_p.S10S|PTHLH_ENST00000395872.1_Silent_p.S10S|PTHLH_ENST00000201015.4_Silent_p.S10S|PTHLH_ENST00000539239.1_Silent_p.S10S|PTHLH_ENST00000395868.3_Silent_p.S10S			P12272	PTHR_HUMAN	parathyroid hormone-like hormone	10					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP metabolic process (GO:0046058)|cell-cell signaling (GO:0007267)|endochondral ossification (GO:0001958)|endoderm development (GO:0007492)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|lung alveolus development (GO:0048286)|mammary gland bud elongation (GO:0060649)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|nipple sheath formation (GO:0060659)|osteoblast development (GO:0002076)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|protein processing (GO:0016485)|regulation of gene expression (GO:0010468)|skeletal system development (GO:0001501)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	hormone activity (GO:0005179)|peptide hormone receptor binding (GO:0051428)	p.S10S(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					ACACCGCGACGCTCCACTGCT	0.672																																					p.S10S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C30T	12						.						24.0	22.0	22.0					12																	28122398		2191	4295	6486	28013665	SO:0001819	synonymous_variant	5744	exon3				CCDS8715.1, CCDS44853.1	12p12.1-p11.2	2014-01-07			ENSG00000087494	ENSG00000087494		"""Endogenous ligands"""	9607	protein-coding gene	gene with protein product	"""osteostatin"", ""parathyroid hormone-like hormone preproprotein"", ""parathyroid hormone-related protein preproprotein"""	168470				2708388	Standard	NM_002820		Approved	PTHRP, HHM, PLP, PTHR	uc001ril.3	P12272	OTTHUMG00000169221	ENST00000545234.1:c.30C>T	12.37:g.28122398G>A		Somatic		Capture	SOLID	Phase_I	28013665	NM_002820	Q15251|Q6FH74	Silent	SNP	ENST00000545234.1	37	CCDS44853.1																																																																																				0.672	PTHLH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402913.1	NM_198965	
CCDC91	55297	hgsc.bcm.edu	37	12	28412301	28412301	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr12:28412301C>T	ENST00000545336.1	+	6	454	c.35C>T	c.(34-36)gCg>gTg	p.A12V	CCDC91_ENST00000539107.1_Missense_Mutation_p.A12V|CCDC91_ENST00000381256.1_Missense_Mutation_p.A12V|CCDC91_ENST00000381259.1_Missense_Mutation_p.A12V			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	12	GGA1-binding motif.				protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)		p.A12V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					TTGTAGGCTGCGGAGACTTTT	0.408																																					p.A12V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C35T	12						.						135.0	119.0	124.0					12																	28412301		2203	4300	6503	28303568	SO:0001583	missense	55297	exon2			AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"""GGA binding partner"""					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.35C>T	12.37:g.28412301C>T	ENSP00000438040:p.Ala12Val	Somatic		Capture	SOLID	Phase_I	28303568	NM_018318	B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Missense_Mutation	SNP	ENST00000545336.1	37	CCDS8716.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.646272	0.87958	.	.	ENSG00000123106	ENST00000538586;ENST00000539107;ENST00000536442;ENST00000545336;ENST00000543534;ENST00000545737;ENST00000381259;ENST00000381256	T;T;T;T;T;T	0.58652	0.32;0.47;0.41;0.48;0.41;0.32	5.57	5.57	0.84162	.	0.000000	0.56097	D	0.000024	T	0.65354	0.2683	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.69401	-0.5155	10	0.87932	D	0	-15.2898	16.7057	0.85371	0.0:1.0:0.0:0.0	.	12	Q7Z6B0	CCD91_HUMAN	V	12	ENSP00000440513:A12V;ENSP00000445660:A12V;ENSP00000438040:A12V;ENSP00000442544:A12V;ENSP00000370658:A12V;ENSP00000370655:A12V	ENSP00000370655:A12V	A	+	2	0	CCDC91	28303568	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	4.847000	0.62867	2.602000	0.87976	0.655000	0.94253	GCG		0.408	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318	
KIAA1551	55196	hgsc.bcm.edu	37	12	32134340	32134340	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr12:32134340G>A	ENST00000312561.4	+	4	865	c.451G>A	c.(451-453)Gca>Aca	p.A151T	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	151								p.A151T(1)									CAATATGCCGGCACTACAGAG	0.418																																					p.A151T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G451A	12						.						75.0	69.0	71.0					12																	32134340		2203	4300	6503	32025607	SO:0001583	missense	55196	exon4			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.451G>A	12.37:g.32134340G>A	ENSP00000310338:p.Ala151Thr	Somatic		Capture	SOLID	Phase_I	32025607	NM_018169	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	G	12.64	1.997265	0.35226	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.10192	2.9;2.9	5.35	-5.89	0.02282	.	1.582800	0.03582	N	0.230280	T	0.05960	0.0155	N	0.17082	0.46	0.09310	N	1	B	0.17038	0.02	B	0.17722	0.019	T	0.38478	-0.9659	9	.	.	.	.	6.5861	0.22622	0.4742:0.36:0.1659:0.0	.	151	Q9HCM1	CL035_HUMAN	T	151	ENSP00000310338:A151T;ENSP00000370442:A151T	.	A	+	1	0	C12orf35	32025607	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.450000	0.06803	-0.663000	0.05331	0.650000	0.86243	GCA		0.418	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169	
KIAA1551	55196	hgsc.bcm.edu	37	12	32137054	32137054	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr12:32137054G>A	ENST00000312561.4	+	4	3579	c.3165G>A	c.(3163-3165)ctG>ctA	p.L1055L	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1055								p.L1055L(1)									ATGACCAGCTGTCAGAACTTC	0.438																																					p.L1055L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3165A	12						.						148.0	140.0	143.0					12																	32137054		2203	4300	6503	32028321	SO:0001819	synonymous_variant	55196	exon4			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.3165G>A	12.37:g.32137054G>A		Somatic		Capture	SOLID	Phase_I	32028321	NM_018169	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Silent	SNP	ENST00000312561.4	37	CCDS8725.2																																																																																				0.438	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169	
C1QL4	338761	hgsc.bcm.edu	37	12	49727012	49727012	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr12:49727012C>T	ENST00000334221.3	-	2	1252	c.542G>A	c.(541-543)cGg>cAg	p.R181Q		NM_001008223.1	NP_001008224.1	Q86Z23	C1QL4_HUMAN	complement component 1, q subcomponent-like 4	181	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)		p.R181Q(1)		large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						GGCGCTGGCCCGGACCTATCG	0.657																																					p.R181Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G542A	12						.						85.0	64.0	71.0					12																	49727012		2203	4300	6503	48013279	SO:0001583	missense	338761	exon2				CCDS31793.1	12q13.12	2012-04-12				ENSG00000186897			31416	protein-coding gene	gene with protein product		615229					Standard	NM_001008223		Approved	C1QTNF11, CTRP11	uc001rtz.1	Q86Z23	OTTHUMG00000169515	ENST00000334221.3:c.542G>A	12.37:g.49727012C>T	ENSP00000335285:p.Arg181Gln	Somatic		Capture	SOLID	Phase_I	48013279	NM_001008223		Missense_Mutation	SNP	ENST00000334221.3	37	CCDS31793.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.813657	0.90790	.	.	ENSG00000186897	ENST00000334221	T	0.74947	-0.89	5.1	5.1	0.69264	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.64402	D	0.000008	T	0.70090	0.3184	L	0.43554	1.36	0.80722	D	1	P	0.47350	0.894	B	0.42495	0.389	T	0.71590	-0.4547	10	0.40728	T	0.16	.	17.4521	0.87595	0.0:1.0:0.0:0.0	.	181	Q86Z23	C1QL4_HUMAN	Q	181	ENSP00000335285:R181Q	ENSP00000335285:R181Q	R	-	2	0	C1QL4	48013279	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.564000	0.82326	2.655000	0.90218	0.462000	0.41574	CGG		0.657	C1QL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404561.1	NM_001008223	
ACVRL1	94	hgsc.bcm.edu	37	12	52309168	52309168	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr12:52309168C>T	ENST00000388922.4	+	7	1215	c.932C>T	c.(931-933)gCg>gTg	p.A311V	ACVRL1_ENST00000550683.1_Missense_Mutation_p.A325V|ACVRL1_ENST00000419526.2_Missense_Mutation_p.A137V	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	311	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.A311V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	TGCGGCCTGGCGCACCTGCAC	0.612																																					p.A311V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C932T	12						.						56.0	51.0	53.0					12																	52309168		2203	4300	6503	50595435	SO:0001583	missense	94	exon6			L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2		8397373, 8640225	Standard	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	ENST00000388922.4:c.932C>T	12.37:g.52309168C>T	ENSP00000373574:p.Ala311Val	Somatic		Capture	SOLID	Phase_I	50595435	NM_001077401	A6NGA8	Missense_Mutation	SNP	ENST00000388922.4	37	CCDS31804.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250863	0.39797	.	.	ENSG00000139567	ENST00000388922;ENST00000267008;ENST00000550683;ENST00000548659;ENST00000419526	T;T;T	0.67345	-0.26;-0.26;-0.26	5.09	5.09	0.68999	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44688	D	0.000424	T	0.54727	0.1876	M	0.64260	1.97	0.37525	D	0.917685	P;P	0.47106	0.89;0.835	B;B	0.36464	0.225;0.103	T	0.58165	-0.7684	10	0.24483	T	0.36	.	6.7716	0.23596	0.0:0.7927:0.0:0.2073	.	137;311	E7EN07;P37023	.;ACVL1_HUMAN	V	311;311;325;137;137	ENSP00000373574:A311V;ENSP00000447884:A325V;ENSP00000392492:A137V	ENSP00000267008:A311V	A	+	2	0	ACVRL1	50595435	0.778000	0.28640	0.989000	0.46669	0.729000	0.41735	1.277000	0.33167	2.826000	0.97356	0.563000	0.77884	GCG		0.612	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404520.2		
KRT72	140807	hgsc.bcm.edu	37	12	52981616	52981616	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr12:52981616G>A	ENST00000537672.2	-	7	1119	c.1109C>T	c.(1108-1110)gCc>gTc	p.A370V	KRT72_ENST00000398066.3_Missense_Mutation_p.A182V|KRT72_ENST00000354310.4_Missense_Mutation_p.A328V|KRT72_ENST00000293745.2_Missense_Mutation_p.A370V	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	370	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.A370V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		GTCGGCGATGGCCGTCTCCAG	0.612																																					p.A328V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C983T	12						.						35.0	34.0	34.0					12																	52981616		2203	4300	6503	51267883	SO:0001583	missense	140807	exon6			AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.1109C>T	12.37:g.52981616G>A	ENSP00000441160:p.Ala370Val	Somatic		Capture	SOLID	Phase_I	51267883	NM_001146226	B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Missense_Mutation	SNP	ENST00000537672.2	37	CCDS8833.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.682419	0.47991	.	.	ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000354310;ENST00000398066	T;T;D;D	0.89270	-1.11;-1.11;-2.49;-2.49	4.92	4.92	0.64577	Filament (1);	0.122888	0.36066	N	0.002815	D	0.95554	0.8555	H	0.94886	3.595	0.34395	D	0.694578	D;D	0.63046	0.992;0.986	D;D	0.67548	0.952;0.952	D	0.99513	1.0956	10	0.87932	D	0	.	13.9446	0.64077	0.0:0.0:0.8479:0.1521	.	328;370	B4DEI8;Q14CN4	.;K2C72_HUMAN	V	370;370;328;182	ENSP00000441160:A370V;ENSP00000293745:A370V;ENSP00000346269:A328V;ENSP00000446151:A182V	ENSP00000293745:A370V	A	-	2	0	KRT72	51267883	1.000000	0.71417	0.955000	0.39395	0.006000	0.05464	5.762000	0.68809	2.652000	0.90054	0.650000	0.86243	GCC		0.612	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747	
OR6C75	390323	hgsc.bcm.edu	37	12	55759486	55759486	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr12:55759486delT	ENST00000343399.3	+	1	592	c.592delT	c.(592-594)tttfs	p.F199fs		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L200fs*1(1)		endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						ACTCATGGCATTTTTTTTAGC	0.393																																					p.F198fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.592delT	12						.						154.0	133.0	140.0					12																	55759486		2203	4300	6503	54045753	SO:0001589	frameshift_variant	390323	exon1				CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.592delT	12.37:g.55759486delT	ENSP00000368987:p.Phe199fs	Somatic		Capture	SOLID	Phase_I	54045753	NM_001005497		Frame_Shift_Del	DEL	ENST00000343399.3	37	CCDS31820.1																																																																																				0.393	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1		
ZC3H10	84872	hgsc.bcm.edu	37	12	56514908	56514908	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr12:56514908G>A	ENST00000257940.2	+	3	838	c.562G>A	c.(562-564)Gat>Aat	p.D188N	RP11-603J24.6_ENST00000550840.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	188							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.D188N(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			ACGACGTCATGATCTCTATGA	0.587																																					p.D188N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G562A	12						.						59.0	60.0	59.0					12																	56514908		2203	4300	6503	54801175	SO:0001583	missense	84872	exon3			BC018708	CCDS8903.1	12q13.2	2012-07-05	2005-06-02	2005-06-02		ENSG00000135482		"""Zinc fingers, CCCH-type domain containing"""	25893	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 10"""	ZC3HDC10		12477932	Standard	NM_032786		Approved	FLJ14451	uc001sjp.1	Q96K80		ENST00000257940.2:c.562G>A	12.37:g.56514908G>A	ENSP00000257940:p.Asp188Asn	Somatic		Capture	SOLID	Phase_I	54801175	NM_032786		Missense_Mutation	SNP	ENST00000257940.2	37	CCDS8903.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359556	0.41801	.	.	ENSG00000135482	ENST00000257940	.	.	.	4.62	4.62	0.57501	.	0.135022	0.46442	D	0.000283	T	0.31670	0.0804	N	0.08118	0	0.80722	D	1	P	0.35011	0.48	B	0.24006	0.05	T	0.40720	-0.9548	9	0.72032	D	0.01	-1.0832	16.7804	0.85562	0.0:0.0:1.0:0.0	.	188	Q96K80	ZC3HA_HUMAN	N	188	.	ENSP00000257940:D188N	D	+	1	0	ZC3H10	54801175	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.533000	0.73829	2.573000	0.86826	0.591000	0.81541	GAT		0.587	ZC3H10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407826.1	NM_032786	
LRP1	4035	hgsc.bcm.edu	37	12	57556718	57556718	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr12:57556718G>A	ENST00000243077.3	+	15	2948	c.2482G>A	c.(2482-2484)Gcc>Acc	p.A828T		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	828	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.A828T(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCGCCAGTGCGCCTGTGCTGA	0.637																																					p.A828T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2482A	12						.						31.0	28.0	29.0					12																	57556718		2203	4300	6503	55842985	SO:0001583	missense	4035	exon15			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.2482G>A	12.37:g.57556718G>A	ENSP00000243077:p.Ala828Thr	Somatic		Capture	SOLID	Phase_I	55842985	NM_002332	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362908	0.82353	.	.	ENSG00000123384	ENST00000243077	D	0.97016	-4.21	5.22	5.22	0.72569	Epidermal growth factor-like (1);	0.074640	0.51477	D	0.000096	D	0.94548	0.8244	L	0.39566	1.225	0.80722	D	1	D	0.54964	0.969	P	0.45794	0.493	D	0.93549	0.6885	10	0.34782	T	0.22	.	18.0982	0.89497	0.0:0.0:1.0:0.0	.	828	Q07954	LRP1_HUMAN	T	828	ENSP00000243077:A828T	ENSP00000243077:A828T	A	+	1	0	LRP1	55842985	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.519000	0.98025	2.894000	0.99253	0.655000	0.94253	GCC		0.637	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332	
ARHGAP9	64333	hgsc.bcm.edu	37	12	57870948	57870948	+	Silent	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr12:57870948A>G	ENST00000356411.2	-	5	999	c.861T>C	c.(859-861)ctT>ctC	p.L287L	ARHGAP9_ENST00000430041.2_Silent_p.L103L|ARHGAP9_ENST00000424809.2_Silent_p.L287L|ARHGAP9_ENST00000393791.3_Silent_p.L287L|ARHGAP9_ENST00000550454.1_5'UTR|ARHGAP9_ENST00000550288.1_Silent_p.L366L|ARHGAP9_ENST00000393797.2_Silent_p.L358L			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	287					positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)	p.L287L(1)		endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CCTGTGGGTCAAGCGGTTCTG	0.522																																					p.L103L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T309C	12						.						152.0	123.0	133.0					12																	57870948		2203	4300	6503	56157215	SO:0001819	synonymous_variant	64333	exon3			AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.861T>C	12.37:g.57870948A>G		Somatic		Capture	SOLID	Phase_I	56157215	NM_001080156	B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Silent	SNP	ENST00000356411.2	37																																																																																					0.522	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496	
KIF5A	3798	hgsc.bcm.edu	37	12	57969523	57969523	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr12:57969523C>T	ENST00000455537.2	+	17	2280	c.2006C>T	c.(2005-2007)gCc>gTc	p.A669V	KIF5A_ENST00000286452.5_Missense_Mutation_p.A580V	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	669					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.A669V(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GATGAGCTGGCCAAGCTCCAG	0.517																																					p.A669V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2006T	12						.						157.0	152.0	154.0					12																	57969523		2203	4300	6503	56255790	SO:0001583	missense	3798	exon17			U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.2006C>T	12.37:g.57969523C>T	ENSP00000408979:p.Ala669Val	Somatic		Capture	SOLID	Phase_I	56255790	NM_004984	A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.783120	0.49891	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	D;D	0.84873	-1.91;-1.91	4.52	3.63	0.41609	.	0.000000	0.85682	D	0.000000	T	0.80160	0.4572	L	0.48174	1.505	0.58432	D	0.999999	B;B	0.22346	0.068;0.068	B;B	0.27608	0.081;0.081	T	0.74630	-0.3601	10	0.28530	T	0.3	.	11.8635	0.52480	0.0:0.9132:0.0:0.0868	.	580;669	B7Z2M7;Q12840	.;KIF5A_HUMAN	V	669;580	ENSP00000408979:A669V;ENSP00000286452:A580V	ENSP00000286452:A580V	A	+	2	0	KIF5A	56255790	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.866000	0.69590	1.268000	0.44264	0.655000	0.94253	GCC		0.517	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984	
GLIPR1	11010	hgsc.bcm.edu	37	12	75875775	75875775	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr12:75875775C>T	ENST00000266659.3	+	2	537	c.336C>T	c.(334-336)tcC>tcT	p.S112S	RP11-585P4.5_ENST00000547326.1_RNA	NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	112	SCP.				cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S112S(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						CTGTGTCTTCCGCCATCACAA	0.483																																					p.S112S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C336T	12						.						116.0	101.0	106.0					12																	75875775		2203	4300	6503	74162042	SO:0001819	synonymous_variant	11010	exon2			U16307	CCDS9011.1	12q14.1	2008-08-15	2008-08-15			ENSG00000139278			17001	protein-coding gene	gene with protein product		602692	"""GLI pathogenesis-related 1 (glioma)"""			7607567, 8973356	Standard	NM_006851		Approved	RTVP1, GliPR	uc001sxs.3	P48060	OTTHUMG00000169757	ENST00000266659.3:c.336C>T	12.37:g.75875775C>T		Somatic		Capture	SOLID	Phase_I	74162042	NM_006851	A7YET6|F8VUC2|Q15409|Q969K2	Silent	SNP	ENST00000266659.3	37	CCDS9011.1																																																																																				0.483	GLIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405722.1	NM_006851	
ACSS3	79611	hgsc.bcm.edu	37	12	81613822	81613822	+	Missense_Mutation	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr12:81613822T>C	ENST00000548058.1	+	11	2391	c.1481T>C	c.(1480-1482)cTg>cCg	p.L494P	ACSS3_ENST00000261206.3_Missense_Mutation_p.L493P|ACSS3_ENST00000548324.1_Missense_Mutation_p.L176P			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	494						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						ATGCAAAAACTGAAGGCTCGG	0.249																																					p.L494P												.	.	0			c.T1481C	12						.						50.0	54.0	53.0					12																	81613822		2203	4300	6503	80137953	SO:0001583	missense	79611	exon11				CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.1481T>C	12.37:g.81613822T>C	ENSP00000449535:p.Leu494Pro	Somatic		Capture	SOLID	Phase_I	80137953	NM_024560	Q8NC66	Missense_Mutation	SNP	ENST00000548058.1	37	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	T	17.94	3.511934	0.64522	.	.	ENSG00000111058	ENST00000548058;ENST00000261206;ENST00000548324	T;T;T	0.56275	2.56;2.56;0.47	5.49	5.49	0.81192	AMP-dependent synthetase/ligase (1);	0.221577	0.36134	N	0.002766	T	0.62636	0.2444	M	0.79475	2.455	0.58432	D	0.999998	P;D	0.54397	0.579;0.966	B;P	0.52109	0.221;0.69	T	0.68409	-0.5416	10	0.87932	D	0	-9.7233	9.4047	0.38453	0.0:0.0812:0.0:0.9188	.	176;494	Q9H6R3-2;Q9H6R3	.;ACSS3_HUMAN	P	494;493;176	ENSP00000449535:L494P;ENSP00000261206:L493P;ENSP00000448965:L176P	ENSP00000261206:L493P	L	+	2	0	ACSS3	80137953	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.437000	0.44828	2.202000	0.70862	0.533000	0.62120	CTG		0.249	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560	
PLXNC1	10154	hgsc.bcm.edu	37	12	94641745	94641745	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr12:94641745C>T	ENST00000258526.4	+	13	2704	c.2455C>T	c.(2455-2457)Cgc>Tgc	p.R819C		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	819					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.R819C(2)|p.R819G(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTCAAAAGTGCGCACGAATGT	0.463																																					p.R819C												.	.	3	Substitution - Missense(3)	large_intestine(2)|lung(1)	c.C2455T	12						.						111.0	112.0	111.0					12																	94641745		2203	4300	6503	93165876	SO:0001583	missense	10154	exon13			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.2455C>T	12.37:g.94641745C>T	ENSP00000258526:p.Arg819Cys	Somatic		Capture	SOLID	Phase_I	93165876	NM_005761	Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.409414	0.42715	.	.	ENSG00000136040	ENST00000258526	T	0.77620	-1.11	6.16	5.23	0.72850	Cell surface receptor IPT/TIG (2);	0.603397	0.18399	N	0.142409	T	0.75042	0.3796	N	0.24115	0.695	0.37752	D	0.925999	D	0.61697	0.99	P	0.54210	0.745	T	0.77451	-0.2583	10	0.52906	T	0.07	.	13.2798	0.60208	0.0:0.7679:0.2321:0.0	.	819	O60486	PLXC1_HUMAN	C	819	ENSP00000258526:R819C	ENSP00000258526:R819C	R	+	1	0	PLXNC1	93165876	0.000000	0.05858	0.010000	0.14722	0.131000	0.20780	0.649000	0.24843	2.937000	0.99478	0.650000	0.86243	CGC		0.463	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2		
TMCC3	57458	hgsc.bcm.edu	37	12	94972274	94972274	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr12:94972274G>A	ENST00000261226.4	-	3	1158	c.1027C>T	c.(1027-1029)Ctg>Ttg	p.L343L	TMCC3_ENST00000551457.1_Silent_p.L312L	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	343						integral component of membrane (GO:0016021)		p.L343L(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						AGGTCCGTCAGGTCATGCAGC	0.547																																					p.L343L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1027T	12						.						82.0	65.0	71.0					12																	94972274		2203	4300	6503	93496405	SO:0001819	synonymous_variant	57458	exon3			AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.1027C>T	12.37:g.94972274G>A		Somatic		Capture	SOLID	Phase_I	93496405	NM_020698	Q8IWB2	Silent	SNP	ENST00000261226.4	37	CCDS31877.1																																																																																				0.547	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698	
APAF1	317	hgsc.bcm.edu	37	12	99071221	99071221	+	Silent	SNP	G	G	A	rs144715006		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr12:99071221G>A	ENST00000551964.1	+	13	2548	c.1812G>A	c.(1810-1812)acG>acA	p.T604T	APAF1_ENST00000333991.1_Intron|APAF1_ENST00000357310.1_Silent_p.T604T|APAF1_ENST00000339433.3_Silent_p.T604T|APAF1_ENST00000549007.1_Silent_p.T604T|APAF1_ENST00000547045.1_Silent_p.T604T|APAF1_ENST00000550527.1_Silent_p.T593T|APAF1_ENST00000359972.2_Silent_p.T593T|APAF1_ENST00000552268.1_Intron	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	604					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)	p.T604T(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	AAAACATCACGAATCTTTCCC	0.353																																					p.T593T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1779A	12						.	G	,,,,	1,4405	2.1+/-5.4	0,1,2202	79.0	68.0	72.0		1779,1779,1812,1812,	5.9	1.0	12	dbSNP_134	72	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron	APAF1	NM_001160.2,NM_013229.2,NM_181861.1,NM_181868.1,NM_181869.1	,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,	593/1195,593/1238,604/1249,604/1206,	99071221	1,13005	2203	4300	6503	97595352	SO:0001819	synonymous_variant	317	exon13			AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.1812G>A	12.37:g.99071221G>A		Somatic		Capture	SOLID	Phase_I	97595352	NM_013229	B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Silent	SNP	ENST00000551964.1	37	CCDS9069.1																																																																																				0.353	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1	
DDX54	79039	hgsc.bcm.edu	37	12	113600802	113600802	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr12:113600802G>A	ENST00000306014.5	-	17	2157	c.2130C>T	c.(2128-2130)ggC>ggT	p.G710G	DDX54_ENST00000314045.7_Silent_p.G710G|DDX54_ENST00000549271.1_5'Flank	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	710					ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)	p.G710G(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCAGGACAGCGCCAGCTGCCT	0.632																																					p.G710G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2130T	12						.						58.0	53.0	55.0					12																	113600802		2203	4300	6503	112085185	SO:0001819	synonymous_variant	79039	exon17			AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"""DEAD-boxes"""	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.2130C>T	12.37:g.113600802G>A		Somatic		Capture	SOLID	Phase_I	112085185	NM_024072	Q86YT8|Q9BRZ1	Silent	SNP	ENST00000306014.5	37	CCDS31907.1	.	.	.	.	.	.	.	.	.	.	G	0.881	-0.728763	0.03135	.	.	ENSG00000123064	ENST00000546898	.	.	.	5.41	-10.8	0.00216	.	.	.	.	.	T	0.55497	0.1924	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.70590	-0.4830	4	.	.	.	.	12.2922	0.54825	0.1349:0.3279:0.5372:0.0	.	.	.	.	C	113	.	.	R	-	1	0	DDX54	112085185	0.000000	0.05858	0.001000	0.08648	0.135000	0.20990	-5.622000	0.00109	-3.585000	0.00137	-1.395000	0.01148	CGC		0.632	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072	
HERC2	8924	hgsc.bcm.edu	37	15	28520068	28520068	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr15:28520068C>T	ENST00000261609.7	-	6	734	c.626G>A	c.(625-627)cGc>cAc	p.R209H		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.R209H(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCAGGCCCTGCGCAGGAAGGC	0.612																																					p.R209H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G626A	15						.						90.0	91.0	90.0					15																	28520068		2203	4300	6503	26193663	SO:0001583	missense	8924	exon6			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.626G>A	15.37:g.28520068C>T	ENSP00000261609:p.Arg209His	Somatic		Capture	SOLID	Phase_I	26193663	NM_004667		Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770570	0.90108	.	.	ENSG00000128731	ENST00000261609	T	0.59364	0.27	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.76962	0.4061	M	0.74647	2.275	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	T	0.79529	-0.1766	10	0.87932	D	0	.	19.1245	0.93376	0.0:1.0:0.0:0.0	.	209	O95714	HERC2_HUMAN	H	209	ENSP00000261609:R209H	ENSP00000261609:R209H	R	-	2	0	HERC2	26193663	1.000000	0.71417	0.993000	0.49108	0.401000	0.30781	7.805000	0.86005	2.530000	0.85305	0.655000	0.94253	CGC		0.612	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	
APBA2	321	hgsc.bcm.edu	37	15	29346705	29346705	+	Silent	SNP	C	C	T	rs111870710	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr15:29346705C>T	ENST00000558402.1	+	5	1217	c.618C>T	c.(616-618)ggC>ggT	p.G206G	APBA2_ENST00000558259.1_Silent_p.G206G|APBA2_ENST00000558330.1_Silent_p.G206G|APBA2_ENST00000411764.1_Silent_p.G206G|APBA2_ENST00000561069.1_Silent_p.G206G			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	206	STXBP1-binding.			DEPSVLEAHDQEEDGHYCASKEGYQDYYPEEANGNTGASPY RLRR -> MSPPSLRPMTRKKMVTMCQQRGLPGLLPRGGQR EHRRLPLPPEA (in Ref. 1; AAC39767). {ECO:0000305}.	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)	p.G206G(1)		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)		GGAACACCGGCGCCTCCCCCT	0.607													c|||	21	0.00419329	0.0151	0.0014	5008	,	,		19798	0.0		0.0	False		,,,				2504	0.0				p.G206G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C618T	15						.	T	,	54,4350	53.6+/-89.4	0,54,2148	47.0	36.0	40.0		618,618	-4.0	0.0	15	dbSNP_132	40	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	APBA2	NM_001130414.1,NM_005503.3	,	0,54,6448	TT,TC,CC		0.0,1.2262,0.4153	,	206/738,206/750	29346705	54,12950	2202	4300	6502	27133997	SO:0001819	synonymous_variant	321	exon3			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.618C>T	15.37:g.29346705C>T		Somatic		Capture	SOLID	Phase_I	27133997	NM_005503	E9PGI4|O60571|Q5XKC0	Silent	SNP	ENST00000558402.1	37	CCDS10022.1																																																																																				0.607	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503	
NUTM1	256646	hgsc.bcm.edu	37	15	34648102	34648102	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr15:34648102C>T	ENST00000333756.4	+	7	1964	c.1809C>T	c.(1807-1809)ggC>ggT	p.G603G	NUTM1_ENST00000438749.3_Silent_p.G621G|NUTM1_ENST00000537011.1_Silent_p.G631G	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	603						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G603G(1)									ATCTAGGAGGCGCTGGGCCTC	0.597																																					p.G603G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1809T	15						.						22.0	23.0	22.0					15																	34648102		2181	4264	6445	32435394	SO:0001819	synonymous_variant	256646	exon7			AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.1809C>T	15.37:g.34648102C>T		Somatic		Capture	SOLID	Phase_I	32435394	NM_175741	B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Silent	SNP	ENST00000333756.4	37	CCDS32190.1																																																																																				0.597	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741	
DISP2	85455	hgsc.bcm.edu	37	15	40659400	40659400	+	Missense_Mutation	SNP	C	C	T	rs201017746		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr15:40659400C>T	ENST00000267889.3	+	8	1174	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	363					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)		p.R363C(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TGACGCAGCCCGCACACTGGC	0.642																																					p.R363C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1087T	15						.						115.0	108.0	110.0					15																	40659400		2203	4300	6503	38446692	SO:0001583	missense	85455	exon8			AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.1087C>T	15.37:g.40659400C>T	ENSP00000267889:p.Arg363Cys	Somatic		Capture	SOLID	Phase_I	38446692	NM_033510	Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	37	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215279	0.58452	.	.	ENSG00000140323	ENST00000267889	T	0.12569	2.67	5.1	4.17	0.49024	.	0.224065	0.46758	D	0.000275	T	0.28896	0.0717	L	0.50333	1.59	0.42527	D	0.993025	D	0.89917	1.0	P	0.62184	0.899	T	0.03086	-1.1074	10	0.52906	T	0.07	-23.3474	15.575	0.76368	0.0:0.8617:0.1383:0.0	.	363	A7MBM2	DISP2_HUMAN	C	363	ENSP00000267889:R363C	ENSP00000267889:R363C	R	+	1	0	DISP2	38446692	1.000000	0.71417	0.595000	0.28798	0.618000	0.37518	6.527000	0.73803	1.351000	0.45789	0.561000	0.74099	CGC		0.642	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510	
EHD4	30844	hgsc.bcm.edu	37	15	42246020	42246020	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr15:42246020C>T	ENST00000220325.4	-	2	438	c.355G>A	c.(355-357)Gtg>Atg	p.V119M		NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	119	Dynamin-type G.				cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)	p.V119M(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		TTGGGGTCCACGACTAAAGCA	0.532																																					p.V119M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G355A	15						.						112.0	107.0	108.0					15																	42246020		2203	4299	6502	40033312	SO:0001583	missense	30844	exon2			AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"""EF-hand domain containing"""	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.355G>A	15.37:g.42246020C>T	ENSP00000220325:p.Val119Met	Somatic		Capture	SOLID	Phase_I	40033312	NM_139265	Q9HAR1|Q9NZN2	Missense_Mutation	SNP	ENST00000220325.4	37	CCDS10081.1	.	.	.	.	.	.	.	.	.	.	C	32	5.129741	0.94473	.	.	ENSG00000103966	ENST00000220325	D	0.96856	-4.15	5.93	5.93	0.95920	Dynamin, GTPase domain (1);	0.000000	0.85682	D	0.000000	D	0.97532	0.9192	L	0.49513	1.565	0.80722	D	1	D;P	0.89917	1.0;0.884	D;P	0.91635	0.999;0.603	D	0.97398	0.9994	10	0.52906	T	0.07	-43.4133	20.3539	0.98825	0.0:1.0:0.0:0.0	.	119;119	A8K9B9;Q9H223	.;EHD4_HUMAN	M	119	ENSP00000220325:V119M	ENSP00000220325:V119M	V	-	1	0	EHD4	40033312	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	7.487000	0.81328	2.826000	0.97356	0.655000	0.94253	GTG		0.532	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2	NM_139265	
TMEM87A	25963	hgsc.bcm.edu	37	15	42525427	42525427	+	Missense_Mutation	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr15:42525427A>G	ENST00000389834.4	-	11	1310	c.1046T>C	c.(1045-1047)gTc>gCc	p.V349A	TMEM87A_ENST00000448392.1_Missense_Mutation_p.V288A	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	349						integral component of membrane (GO:0016021)		p.V349A(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		AACTCTGAGGACCCCTTCCAT	0.438																																					p.V349A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1046C	15						.						92.0	88.0	90.0					15																	42525427		2203	4299	6502	40312719	SO:0001583	missense	25963	exon11			AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.1046T>C	15.37:g.42525427A>G	ENSP00000374484:p.Val349Ala	Somatic		Capture	SOLID	Phase_I	40312719	NM_015497	Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Missense_Mutation	SNP	ENST00000389834.4	37	CCDS32205.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.356516	0.82243	.	.	ENSG00000103978	ENST00000389834;ENST00000448392;ENST00000535305	.	.	.	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.76557	0.4004	M	0.73962	2.25	0.58432	D	0.999999	D;P	0.71674	0.998;0.48	D;B	0.67548	0.952;0.236	T	0.78038	-0.2360	9	0.45353	T	0.12	-11.707	14.2337	0.65911	1.0:0.0:0.0:0.0	.	349;288	Q8NBN3;Q8NBN3-3	TM87A_HUMAN;.	A	349;288;325	.	ENSP00000374484:V349A	V	-	2	0	TMEM87A	40312719	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.725000	0.91468	1.964000	0.57103	0.459000	0.35465	GTC		0.438	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420482.2	NM_015497	
TP53BP1	7158	hgsc.bcm.edu	37	15	43748295	43748295	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr15:43748295C>T	ENST00000263801.3	-	12	2748	c.2496G>A	c.(2494-2496)caG>caA	p.Q832Q	TP53BP1_ENST00000382044.4_Silent_p.Q837Q|TP53BP1_ENST00000450115.2_Silent_p.Q837Q|TP53BP1_ENST00000382039.3_Silent_p.Q837Q|TP53BP1_ENST00000605155.1_5'UTR	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	832					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)	p.Q832Q(1)		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)		GTAAGGAAGGCTGTGAAGAAT	0.413								Other conserved DNA damage response genes																													p.Q832Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2496A	15						.						170.0	166.0	167.0					15																	43748295		2201	4298	6499	41535587	SO:0001819	synonymous_variant	7158	exon12			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.2496G>A	15.37:g.43748295C>T		Somatic		Capture	SOLID	Phase_I	41535587	NM_005657	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Silent	SNP	ENST00000263801.3	37	CCDS10096.1																																																																																				0.413	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3		
MYEF2	50804	hgsc.bcm.edu	37	15	48458202	48458202	+	Missense_Mutation	SNP	T	T	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr15:48458202T>G	ENST00000324324.7	-	5	732	c.453A>C	c.(451-453)gaA>gaC	p.E151D	MYEF2_ENST00000267836.6_Missense_Mutation_p.E151D	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	151	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				myotube differentiation (GO:0014902)|neuron differentiation (GO:0030182)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E151D(1)		endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TTACAAATTCTTCATCTTTGA	0.259																																					p.E151D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A453C	15						.						57.0	70.0	66.0					15																	48458202		2182	4245	6427	46245494	SO:0001583	missense	50804	exon5			AB037762	CCDS32230.1, CCDS73722.1	15q15.1	2013-07-16				ENSG00000104177		"""RNA binding motif (RRM) containing"""	17940	protein-coding gene	gene with protein product						10718198, 2601707	Standard	XM_005254422		Approved	MEF-2, FLJ11213, KIAA1341, HsT18564	uc001zwi.4	Q9P2K5		ENST00000324324.7:c.453A>C	15.37:g.48458202T>G	ENSP00000316950:p.Glu151Asp	Somatic		Capture	SOLID	Phase_I	46245494	NM_016132	A7MCZ9|C9J921|C9K0J4|Q6NUM5|Q7L388|Q7Z4B7|Q9H922|Q9NUQ1	Missense_Mutation	SNP	ENST00000324324.7	37	CCDS32230.1	.	.	.	.	.	.	.	.	.	.	T	19.86	3.905084	0.72868	.	.	ENSG00000104177	ENST00000324324;ENST00000267836	T;T	0.18174	2.23;2.23	5.88	5.88	0.94601	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.197875	0.52532	D	0.000063	T	0.22360	0.0539	N	0.25201	0.72	0.51767	D	0.999937	D;P	0.54772	0.968;0.942	P;P	0.59288	0.855;0.762	T	0.01988	-1.1234	10	0.42905	T	0.14	-20.8508	10.5966	0.45341	0.0:0.0717:0.0:0.9283	.	151;151	Q9P2K5-2;Q9P2K5	.;MYEF2_HUMAN	D	151	ENSP00000316950:E151D;ENSP00000267836:E151D	ENSP00000267836:E151D	E	-	3	2	MYEF2	46245494	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.961000	0.40432	2.248000	0.74166	0.477000	0.44152	GAA		0.259	MYEF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416909.2	NM_016132	
DMXL2	23312	hgsc.bcm.edu	37	15	51792348	51792348	+	Missense_Mutation	SNP	G	G	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr15:51792348G>T	ENST00000251076.5	-	18	3360	c.3073C>A	c.(3073-3075)Cgc>Agc	p.R1025S	DMXL2_ENST00000543779.2_Missense_Mutation_p.R1025S|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Intron	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1025						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.R1025S(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TTCCAGAAGCGTACTTTATTG	0.363																																					p.R1025S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3073A	15						.						84.0	86.0	86.0					15																	51792348		2195	4292	6487	49579640	SO:0001583	missense	23312	exon18			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.3073C>A	15.37:g.51792348G>T	ENSP00000251076:p.Arg1025Ser	Somatic		Capture	SOLID	Phase_I	49579640	NM_015263	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.227195	0.58668	.	.	ENSG00000104093	ENST00000251076;ENST00000543779	T;T	0.49139	0.79;0.79	5.81	5.81	0.92471	WD40/YVTN repeat-like-containing domain (1);	0.099975	0.64402	D	0.000002	T	0.71082	0.3298	M	0.81682	2.555	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.987	T	0.74179	-0.3749	10	0.87932	D	0	.	16.3525	0.83220	0.0:0.0:0.8676:0.1324	.	1025;1025	F5GWF1;Q8TDJ6	.;DMXL2_HUMAN	S	1025	ENSP00000251076:R1025S;ENSP00000441858:R1025S	ENSP00000251076:R1025S	R	-	1	0	DMXL2	49579640	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.523000	0.53488	2.746000	0.94184	0.591000	0.81541	CGC		0.363	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263	
ALDH1A2	8854	hgsc.bcm.edu	37	15	58256129	58256129	+	Missense_Mutation	SNP	C	C	T	rs141245344		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr15:58256129C>T	ENST00000249750.4	-	9	1807	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	ALDH1A2_ENST00000558231.1_Missense_Mutation_p.R318H|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.R309H|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.R326H|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.R251H	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	347					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)	p.R347H(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	CCCCACTACGCGCCTCTTGGC	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		17972	0.001		0.0	False		,,,				2504	0.0				p.R251H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G752A	15						.	C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4383	2.1+/-5.4	0,1,2191	80.0	83.0	82.0		977,1040,926,752	5.6	1.0	15	dbSNP_134	82	1,8583	1.2+/-3.3	0,1,4291	no	missense,missense,missense,missense	ALDH1A2	NM_001206897.1,NM_003888.3,NM_170696.2,NM_170697.2	29,29,29,29	0,2,6482	TT,TC,CC		0.0116,0.0228,0.0154	benign,benign,benign,benign	326/498,347/519,309/481,251/423	58256129	2,12966	2192	4292	6484	56043421	SO:0001583	missense	8854	exon7			AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"""Aldehyde dehydrogenases"""	15472	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 2"""	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.1040G>A	15.37:g.58256129C>T	ENSP00000249750:p.Arg347His	Somatic		Capture	SOLID	Phase_I	56043421	NM_170697	B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Missense_Mutation	SNP	ENST00000249750.4	37	CCDS10163.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	24.4	4.525827	0.85600	2.28E-4	1.16E-4	ENSG00000128918	ENST00000249750;ENST00000430119;ENST00000543386;ENST00000347587;ENST00000537372	T;T;T	0.75938	-0.98;-0.98;-0.98	5.6	5.6	0.85130	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.62575	0.2439	N	0.16833	0.445	0.80722	D	1	B;B;B;B	0.32101	0.356;0.306;0.039;0.056	B;B;B;B	0.26517	0.07;0.042;0.013;0.034	T	0.64960	-0.6284	10	0.72032	D	0.01	.	19.9894	0.97361	0.0:1.0:0.0:0.0	.	318;326;309;347	B4DH89;F5H2Y9;O94788-2;O94788	.;.;.;AL1A2_HUMAN	H	347;251;318;309;326	ENSP00000249750:R347H;ENSP00000309623:R309H;ENSP00000438296:R326H	ENSP00000249750:R347H	R	-	2	0	ALDH1A2	56043421	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.664000	0.61540	2.786000	0.95864	0.650000	0.86243	CGC		0.522	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1		
KIF23	9493	hgsc.bcm.edu	37	15	69728554	69728554	+	Silent	SNP	G	G	A	rs143147168		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr15:69728554G>A	ENST00000260363.4	+	13	1467	c.1350G>A	c.(1348-1350)acG>acA	p.T450T	KIF23_ENST00000559279.1_Silent_p.T450T|KIF23_ENST00000352331.4_Silent_p.T450T|KIF23_ENST00000395392.2_Silent_p.T450T|KIF23_ENST00000558585.1_Silent_p.T267T|KIF23_ENST00000537891.1_Silent_p.T267T	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	450					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)	p.T450T(1)		central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						GTGGTTTAACGCCTGGGAGGA	0.428																																					p.T450T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1350A	15						.	G	,	1,4397	2.1+/-5.4	0,1,2198	153.0	147.0	149.0		1350,1350	-11.2	0.0	15	dbSNP_134	149	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous	KIF23	NM_004856.5,NM_138555.2	,	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	,	450/857,450/961	69728554	1,12993	2199	4298	6497	67515608	SO:0001819	synonymous_variant	9493	exon13			X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"""Kinesins"""	6392	protein-coding gene	gene with protein product		605064	"""kinesin-like 5 (mitotic kinesin-like protein 1)"""	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.1350G>A	15.37:g.69728554G>A		Somatic		Capture	SOLID	Phase_I	67515608	NM_004856	Q8WVP0	Silent	SNP	ENST00000260363.4	37	CCDS32278.1																																																																																				0.428	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding			
UBL7	84993	hgsc.bcm.edu	37	15	74751134	74751134	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr15:74751134C>T	ENST00000567435.1	-	2	538	c.75G>A	c.(73-75)ttG>ttA	p.L25L	UBL7_ENST00000395081.2_Silent_p.L25L|UBL7-AS1_ENST00000568853.1_RNA|UBL7_ENST00000361351.4_Silent_p.L25L|UBL7-AS1_ENST00000499217.2_RNA|UBL7_ENST00000565335.1_Silent_p.L25L|UBL7-AS1_ENST00000564137.1_RNA|UBL7_ENST00000564488.1_Silent_p.L25L|UBL7-AS1_ENST00000567286.1_RNA|UBL7-AS1_ENST00000564621.1_RNA			Q96S82	UBL7_HUMAN	ubiquitin-like 7	25	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.							p.L25L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						CTGTCTCTGGCAACCGAAGAA	0.512																																					p.L25L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G75A	15						.						127.0	132.0	130.0					15																	74751134		2197	4296	6493	72538187	SO:0001819	synonymous_variant	84993	exon2			BC007913	CCDS10263.1	15q23	2014-03-06	2014-03-06		ENSG00000138629	ENSG00000138629			28221	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived ubiquitin-like"", "" ubiquitin-like protein SB132"""	609748	"""ubiquitin-like 7 (bone marrow stromal cell-derived)"""			12644319	Standard	NM_201265		Approved	BMSC-UbP, MGC14421	uc002axy.1	Q96S82	OTTHUMG00000139001	ENST00000567435.1:c.75G>A	15.37:g.74751134C>T		Somatic		Capture	SOLID	Phase_I	72538187	NM_201265	D3DW57|Q96I03	Silent	SNP	ENST00000567435.1	37	CCDS10263.1																																																																																				0.512	UBL7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419627.1	NM_032907, NM_201265	
CLK3	1198	hgsc.bcm.edu	37	15	74920945	74920945	+	Splice_Site	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr15:74920945A>G	ENST00000395066.3	+	11	2031	c.1570A>G	c.(1570-1572)Acc>Gcc	p.T524A	CLK3_ENST00000348245.3_3'UTR|CLK3_ENST00000352989.5_Splice_Site_p.T353A|CLK3_ENST00000345005.4_Splice_Site_p.T376A	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	524	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.T376A(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						TCTTCCACAGACCCACGAAAA	0.557																																					p.T524A	Ovarian(133;694 1754 28950 29027 31859)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1570G	15						.						102.0	86.0	92.0					15																	74920945		2197	4296	6493	72707998	SO:0001630	splice_region_variant	1198	exon11			L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"""CDC-like kinases"""	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.1570-1A>G	15.37:g.74920945A>G		Somatic		Capture	SOLID	Phase_I	72707998	NM_001130028	D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	Missense_Mutation	SNP	ENST00000395066.3	37	CCDS45304.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.641984	0.87859	.	.	ENSG00000179335	ENST00000345005;ENST00000395066;ENST00000454830;ENST00000352989	T;T	0.64618	-0.11;-0.11	5.19	5.19	0.71726	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.155525	0.44483	D	0.000456	T	0.71937	0.3399	L	0.42008	1.315	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.99;0.995;0.995	T	0.70695	-0.4801	9	.	.	.	.	14.8757	0.70493	1.0:0.0:0.0:0.0	.	524;229;303;353	P49761;B3KVF3;B3KUU7;G5E959	CLK3_HUMAN;.;.;.	A	376;376;524;353	ENSP00000344112:T376A;ENSP00000323106:T353A	.	T	+	1	0	CLK3	72707998	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.588000	0.90813	2.187000	0.69744	0.459000	0.35465	ACC		0.557	CLK3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390442.3		Missense_Mutation
CIB2	10518	hgsc.bcm.edu	37	15	78398085	78398085	+	Missense_Mutation	SNP	G	G	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr15:78398085G>T	ENST00000258930.3	-	5	866	c.538C>A	c.(538-540)Ctc>Atc	p.L180I	CIB2_ENST00000560618.1_Missense_Mutation_p.L137I|CIB2_ENST00000557846.1_Missense_Mutation_p.L131I|CIB2_ENST00000539011.1_Missense_Mutation_p.L137I	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	180					calcium ion homeostasis (GO:0055074)|photoreceptor cell maintenance (GO:0045494)	blood microparticle (GO:0072562)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|photoreceptor inner segment (GO:0001917)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)	p.L180I(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						CAGCACCTGAGGAAGTCAGGG	0.612																																					p.L180I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C538A	15						.						76.0	69.0	71.0					15																	78398085		2196	4293	6489	76185140	SO:0001583	missense	10518	exon5			BC047381	CCDS10296.1, CCDS61722.1, CCDS61723.1	15q24	2013-01-10			ENSG00000136425	ENSG00000136425		"""EF-hand domain containing"""	24579	protein-coding gene	gene with protein product		605564	"""deafness, autosomal recessive 48"", ""Usher syndrome 1J (autosomal recessive)"""	DFNB48, USH1J		9931475, 23023331	Standard	NM_006383		Approved	KIP2	uc002bdb.2	O75838	OTTHUMG00000143731	ENST00000258930.3:c.538C>A	15.37:g.78398085G>T	ENSP00000258930:p.Leu180Ile	Somatic		Capture	SOLID	Phase_I	76185140	NM_006383	B4DDF0|H0YM71|Q05BT6	Missense_Mutation	SNP	ENST00000258930.3	37	CCDS10296.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135136	0.77662	.	.	ENSG00000136425	ENST00000258930;ENST00000539011	T;T	0.68903	-0.36;2.87	5.59	5.59	0.84812	EF-hand-like domain (1);	0.077245	0.52532	D	0.000062	T	0.74481	0.3722	L	0.37466	1.105	0.80722	D	1	D;P	0.89917	1.0;0.778	D;P	0.83275	0.996;0.498	T	0.68247	-0.5459	10	0.19590	T	0.45	.	18.5767	0.91157	0.0:0.0:1.0:0.0	.	180;180	B4DDF0;O75838	.;CIB2_HUMAN	I	180;137	ENSP00000258930:L180I;ENSP00000442459:L137I	ENSP00000258930:L180I	L	-	1	0	CIB2	76185140	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	2.612000	0.46343	2.641000	0.89580	0.591000	0.81541	CTC		0.612	CIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289798.1	NM_006383	
PDE8A	5151	hgsc.bcm.edu	37	15	85632614	85632614	+	Silent	SNP	A	A	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr15:85632614A>C	ENST00000310298.4	+	8	933	c.681A>C	c.(679-681)gcA>gcC	p.A227A	PDE8A_ENST00000557819.2_Intron|PDE8A_ENST00000339708.5_Silent_p.A227A|PDE8A_ENST00000557957.1_Silent_p.A155A|PDE8A_ENST00000394553.1_Silent_p.A227A			O60658	PDE8A_HUMAN	phosphodiesterase 8A	227	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.A227A(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	GTGAAGATGCAATTGAAATTA	0.299																																					p.A227A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A681C	15						.						102.0	94.0	97.0					15																	85632614		2197	4299	6496	83433618	SO:0001819	synonymous_variant	5151	exon7			AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.681A>C	15.37:g.85632614A>C		Somatic		Capture	SOLID	Phase_I	83433618	NM_002605	B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Silent	SNP	ENST00000310298.4	37	CCDS10336.1																																																																																				0.299	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605	
NTRK3	4916	hgsc.bcm.edu	37	15	88472557	88472557	+	Silent	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr15:88472557A>G	ENST00000360948.2	-	16	2159	c.1998T>C	c.(1996-1998)ggT>ggC	p.G666G	NTRK3_ENST00000557856.1_Silent_p.G658G|NTRK3_ENST00000355254.2_Silent_p.G666G|NTRK3_ENST00000558676.1_Silent_p.G658G|NTRK3_ENST00000542733.2_Silent_p.G568G|NTRK3_ENST00000394480.2_Silent_p.G666G|NTRK3_ENST00000357724.2_Silent_p.G658G	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	666	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.G666G(2)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGTACACCATACCCGAGGCGA	0.592			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																											p.G666G			Dom	yes		15	15q25	4916	"""neurotrophic tyrosine kinase, receptor, type 3"""		"""E, M"""	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T1998C	15						.						87.0	78.0	81.0					15																	88472557		2201	4299	6500	86273561	SO:0001819	synonymous_variant	4916	exon16			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1998T>C	15.37:g.88472557A>G		Somatic		Capture	SOLID	Phase_I	86273561	NM_002530	B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Silent	SNP	ENST00000360948.2	37	CCDS32322.1																																																																																				0.592	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding			
IQGAP1	8826	hgsc.bcm.edu	37	15	90972873	90972873	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr15:90972873C>T	ENST00000268182.5	+	4	489	c.365C>T	c.(364-366)gCc>gTc	p.A122V	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	122	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)	p.A122V(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TGGTTGAATGCCATGGATGAG	0.388																																					p.A122V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C365T	15						.						167.0	154.0	159.0					15																	90972873		2198	4298	6496	88773877	SO:0001583	missense	8826	exon4			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.365C>T	15.37:g.90972873C>T	ENSP00000268182:p.Ala122Val	Somatic		Capture	SOLID	Phase_I	88773877	NM_003870	A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	C	36	5.645507	0.96704	.	.	ENSG00000140575	ENST00000268182	D	0.95171	-3.63	5.34	5.34	0.76211	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.97536	0.9193	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.96716	0.9529	10	0.33940	T	0.23	-16.8286	18.2112	0.89871	0.0:1.0:0.0:0.0	.	122	P46940	IQGA1_HUMAN	V	122	ENSP00000268182:A122V	ENSP00000268182:A122V	A	+	2	0	IQGAP1	88773877	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.579000	0.82511	2.776000	0.95493	0.650000	0.86243	GCC		0.388	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870	
VPS33B	26276	hgsc.bcm.edu	37	15	91561076	91561076	+	Missense_Mutation	SNP	T	T	C	rs202141764		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr15:91561076T>C	ENST00000333371.3	-	2	489	c.136A>G	c.(136-138)Atg>Gtg	p.M46V	VPS33B_ENST00000535906.1_Intron|VPS33B_ENST00000557358.1_Intron|VPS33B_ENST00000535843.1_5'UTR	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	46					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)		p.M46V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					AAAGGGCTCATGAGATCTGCC	0.473																																					p.M46V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A136G	15						.						133.0	115.0	121.0					15																	91561076		2198	4298	6496	89362080	SO:0001583	missense	26276	exon2			AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"""vacuolar protein sorting 33B (yeast homolog)"""			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.136A>G	15.37:g.91561076T>C	ENSP00000327650:p.Met46Val	Somatic		Capture	SOLID	Phase_I	89362080	NM_018668	B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Missense_Mutation	SNP	ENST00000333371.3	37	CCDS10369.1	.	.	.	.	.	.	.	.	.	.	T	12.38	1.921355	0.33908	.	.	ENSG00000184056	ENST00000333371;ENST00000537510	T	0.76060	-0.99	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.70448	0.3225	L	0.39898	1.24	0.80722	D	1	P	0.44195	0.828	P	0.47251	0.542	T	0.66333	-0.5950	10	0.15066	T	0.55	0.3031	14.3294	0.66545	0.0:0.0:0.0:1.0	.	46	Q9H267	VP33B_HUMAN	V	46;1	ENSP00000327650:M46V	ENSP00000327650:M46V	M	-	1	0	VPS33B	89362080	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.676000	0.68131	2.080000	0.62538	0.379000	0.24179	ATG		0.473	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313496.1	NM_018668	
PSMA4	5685	hgsc.bcm.edu	37	15	78838948	78838950	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	AAG	AAG	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr15:78838948_78838950delAAG	ENST00000044462.7	+	8	689_691	c.539_541delAAG	c.(538-543)aaagaa>aaa	p.E181del	PSMA4_ENST00000558094.1_Intron|PSMA4_ENST00000560217.1_In_Frame_Del_p.E150del|PSMA4_ENST00000557929.1_3'UTR|PSMA4_ENST00000559082.1_In_Frame_Del_p.E181del|PSMA4_ENST00000558341.1_Intron|PSMA4_ENST00000558281.1_Intron|PSMA4_ENST00000413382.2_In_Frame_Del_p.E110del	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 4	181					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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 peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|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 polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)	p.E181delE(1)		kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						CAAGACTATAAAGAAGGAGAAAT	0.315																																					p.109_110del												.	.	1	Deletion - In frame(1)	large_intestine(1)	c.326_328del	15						.																																			76626005	SO:0001651	inframe_deletion	5685	exon7			BC005361	CCDS10303.1, CCDS45319.1	15q24.1	2004-01-19			ENSG00000041357	ENSG00000041357		"""Proteasome (prosome, macropain) subunits"""	9533	protein-coding gene	gene with protein product		176846				2025653	Standard	NM_002789		Approved	HC9, HsT17706	uc010blf.3	P25789	OTTHUMG00000143859	ENST00000044462.7:c.539_541delAAG	15.37:g.78838951_78838953delAAG	ENSP00000044462:p.Glu181del	Somatic		Capture	SOLID	Phase_I	76626003	NM_001102668	D3DW86|Q53XP2|Q567Q5|Q8TBD1	In_Frame_Del	DEL	ENST00000044462.7	37	CCDS10303.1																																																																																				0.315	PSMA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290107.5	NM_002789	
MAN2A2	4122	hgsc.bcm.edu	37	15	91448880	91448882	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	CTC	CTC	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr15:91448880_91448882delCTC	ENST00000559717.1	+	4	921_923	c.462_464delCTC	c.(460-465)atctcc>atc	p.S155del	MAN2A2_ENST00000360468.3_In_Frame_Del_p.S155del|MAN2A2_ENST00000431652.2_5'Flank			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	155					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)	p.S155delS(1)|p.S155F(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GCTTCGACATCTCCTACGACCCG	0.601																																					p.154_155del												.	.	2	Substitution - Missense(1)|Deletion - In frame(1)	large_intestine(1)|skin(1)	c.462_464del	15						.			2,4262		1,0,2131						4.7	1.0			89	3,8251		1,1,4125	no	coding	MAN2A2	NM_006122.2		2,1,6256	A1A1,A1R,RR		0.0363,0.0469,0.0399				5,12513				89249886	SO:0001651	inframe_deletion	4122	exon3			L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.462_464delCTC	15.37:g.91448880_91448882delCTC	ENSP00000452948:p.Ser155del	Somatic		Capture	SOLID	Phase_I	89249884	NM_006122	A6NH12|A8K1E8|Q13754	In_Frame_Del	DEL	ENST00000559717.1	37	CCDS32332.1																																																																																				0.601	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122	
NR2F2	7026	hgsc.bcm.edu	37	15	96875656	96875656	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr15:96875656C>T	ENST00000394166.3	+	1	1711	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W	MIR1469_ENST00000410719.1_RNA|NR2F2_ENST00000453270.2_5'Flank|NR2F2_ENST00000394171.2_5'Flank|NR2F2_ENST00000421109.2_Intron	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	108					anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R108W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			GCGCAGCGTGCGGAGGAACCT	0.607																																					p.R108W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C322T	15						.						79.0	65.0	69.0					15																	96875656		2197	4298	6495	94676660	SO:0001583	missense	7026	exon1			M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"""Nuclear hormone receptors"""	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.322C>T	15.37:g.96875656C>T	ENSP00000377721:p.Arg108Trp	Somatic		Capture	SOLID	Phase_I	94676660	NM_021005	B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Missense_Mutation	SNP	ENST00000394166.3	37	CCDS10375.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771388	0.69992	.	.	ENSG00000185551	ENST00000394166	D	0.97480	-4.4	4.61	2.5	0.30297	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	0.076095	0.48286	D	0.000181	D	0.98115	0.9378	M	0.85710	2.77	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98066	1.0396	10	0.87932	D	0	.	10.2718	0.43487	0.6046:0.3954:0.0:0.0	.	108	P24468	COT2_HUMAN	W	108	ENSP00000377721:R108W	ENSP00000377721:R108W	R	+	1	2	NR2F2	94676660	0.998000	0.40836	1.000000	0.80357	0.983000	0.72400	1.290000	0.33319	0.916000	0.36871	-0.475000	0.04921	CGG		0.607	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1		
PPA2	27068	hgsc.bcm.edu	37	4	106345354	106345354	+	Splice_Site	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr4:106345354A>G	ENST00000341695.5	-	7	684	c.654T>C	c.(652-654)caT>caC	p.H218H	PPA2_ENST00000432483.2_Splice_Site_p.H116H|PPA2_ENST00000348706.5_Splice_Site_p.H189H|PPA2_ENST00000357415.4_Splice_Site_p.H233H|PPA2_ENST00000509426.1_5'UTR|PPA2_ENST00000354147.3_Intron|PPA2_ENST00000310267.7_Splice_Site_p.H139H|PPA2_ENST00000380004.2_Splice_Site_p.H200H	NM_176869.2	NP_789845.1	Q9H2U2	IPYR2_HUMAN	pyrophosphatase (inorganic) 2	218					diphosphate metabolic process (GO:0071344)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287)|protein serine/threonine phosphatase activity (GO:0004722)	p.H218H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	11		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)		CAGTCTTACCATGAAACTTTG	0.348																																					p.H189H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T567C	4						.						131.0	130.0	130.0					4																	106345354		2203	4300	6503	106564803	SO:0001630	splice_region_variant	27068	exon6				CCDS3667.1, CCDS3668.2, CCDS3669.2, CCDS34043.1	4q25	2005-10-07			ENSG00000138777	ENSG00000138777			28883	protein-coding gene	gene with protein product		609988				11042152	Standard	NM_176869		Approved	FLJ20459	uc003hxl.3	Q9H2U2	OTTHUMG00000128781	ENST00000341695.5:c.655+1T>C	4.37:g.106345354A>G		Somatic		Capture	SOLID	Phase_I	106564803	NM_006903	B4DLP7|F8WDN9|I6L9B6|Q4W5E9|Q6PG51|Q8TBW0|Q96E55|Q9H0T0|Q9NX37|Q9P033|Q9ULX0	Silent	SNP	ENST00000341695.5	37	CCDS3667.1	.	.	.	.	.	.	.	.	.	.	A	7.227	0.598528	0.13939	.	.	ENSG00000138777	ENST00000508518	.	.	.	5.4	3.03	0.35002	.	.	.	.	.	T	0.57932	0.2087	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53056	-0.8492	4	.	.	.	-14.045	8.3757	0.32442	0.8378:0.0:0.1622:0.0	.	.	.	.	T	197	.	.	M	-	2	0	PPA2	106564803	0.991000	0.36638	1.000000	0.80357	0.317000	0.28152	0.353000	0.20130	0.900000	0.36469	0.459000	0.35465	ATG		0.348	PPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250704.4	NM_176869	Silent
DKK2	27123	hgsc.bcm.edu	37	4	107845197	107845197	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr4:107845197C>T	ENST00000285311.3	-	4	1399	c.694G>A	c.(694-696)Gac>Aac	p.D232N	DKK2_ENST00000513208.1_Missense_Mutation_p.D132N|DKK2_ENST00000510463.1_Missense_Mutation_p.D186N	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	232	DKK-type Cys-2.				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)		p.D232N(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		TTCGCACAGTCGCAACGCTGG	0.483																																					p.D232N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G694A	4						.						161.0	147.0	152.0					4																	107845197		2203	4300	6503	108064646	SO:0001583	missense	27123	exon4			AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"""dickkopf (Xenopus laevis) homolog 2"", ""dickkopf 2 homolog (Xenopus laevis)"""			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.694G>A	4.37:g.107845197C>T	ENSP00000285311:p.Asp232Asn	Somatic		Capture	SOLID	Phase_I	108064646	NM_014421	A0AVE9|B2R6S7|Q9UIU3	Missense_Mutation	SNP	ENST00000285311.3	37	CCDS3675.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389456	0.82902	.	.	ENSG00000155011	ENST00000285311;ENST00000513208;ENST00000510463	T;T;T	0.48201	0.82;0.84;0.86	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.64778	0.2629	M	0.73217	2.22	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.60120	-0.7325	10	0.02654	T	1	-14.9472	19.6876	0.95986	0.0:1.0:0.0:0.0	.	232	Q9UBU2	DKK2_HUMAN	N	232;132;186	ENSP00000285311:D232N;ENSP00000421255:D132N;ENSP00000423797:D186N	ENSP00000285311:D232N	D	-	1	0	DKK2	108064646	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	7.487000	0.81328	2.657000	0.90304	0.585000	0.79938	GAC		0.483	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4		
METTL14	57721	hgsc.bcm.edu	37	4	119612730	119612730	+	Missense_Mutation	SNP	A	A	G	rs376584637		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr4:119612730A>G	ENST00000388822.5	+	4	454	c.287A>G	c.(286-288)gAa>gGa	p.E96G	METTL14_ENST00000506780.1_Missense_Mutation_p.E58G			Q9HCE5	MET14_HUMAN	methyltransferase like 14	96					mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)	p.E96G(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						TTGCCATATGAAGAAGAGATT	0.254																																					p.E96G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A287G	4						.	A	GLY/GLU	0,4324		0,0,2162	32.0	35.0	34.0		287	5.7	1.0	4		34	1,8489		0,1,4244	no	missense	METTL14	NM_020961.2	98	0,1,6406	GG,GA,AA		0.0118,0.0,0.0078	benign	96/457	119612730	1,12813	2162	4245	6407	119832178	SO:0001583	missense	57721	exon4			AB046847	CCDS34053.1	4q26	2009-02-24			ENSG00000145388	ENSG00000145388			29330	protein-coding gene	gene with protein product						10997877	Standard	NM_020961		Approved	KIAA1627	uc003icf.3	Q9HCE5	OTTHUMG00000161167	ENST00000388822.5:c.287A>G	4.37:g.119612730A>G	ENSP00000373474:p.Glu96Gly	Somatic		Capture	SOLID	Phase_I	119832178	NM_020961	A6NIG1|Q969V2	Missense_Mutation	SNP	ENST00000388822.5	37	CCDS34053.1	.	.	.	.	.	.	.	.	.	.	a	14.62	2.588327	0.46110	0.0	1.18E-4	ENSG00000145388	ENST00000388822;ENST00000506780	.	.	.	5.74	5.74	0.90152	.	0.092678	0.64402	D	0.000001	T	0.44414	0.1292	L	0.29908	0.895	0.50039	D	0.999845	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.35126	-0.9801	9	0.39692	T	0.17	-4.7989	10.3994	0.44220	0.9273:0.0:0.0727:0.0	.	58;96	D6RBL4;Q9HCE5	.;MTL14_HUMAN	G	96;58	.	ENSP00000373474:E96G	E	+	2	0	METTL14	119832178	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.876000	0.75556	2.199000	0.70637	0.533000	0.62120	GAA		0.254	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364034.3	NM_020961	
FAT4	79633	hgsc.bcm.edu	37	4	126373784	126373784	+	Missense_Mutation	SNP	C	C	G	rs141328606	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr4:126373784C>G	ENST00000394329.3	+	9	11626	c.11613C>G	c.(11611-11613)tgC>tgG	p.C3871W	FAT4_ENST00000335110.5_Missense_Mutation_p.C2169W	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3871	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.C3871W(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CATCACCTTGCCACAGTGGTG	0.483																																					p.C3871W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C11613G	4						.						72.0	71.0	71.0					4																	126373784		2203	4300	6503	126593234	SO:0001583	missense	79633	exon9			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.11613C>G	4.37:g.126373784C>G	ENSP00000377862:p.Cys3871Trp	Somatic		Capture	SOLID	Phase_I	126593234	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	14.18	2.459334	0.43634	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	D;D	0.99445	-5.91;-5.91	5.27	2.1	0.27182	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.37761	U	0.001958	D	0.99782	0.9909	H	0.99958	5.055	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.997	D	0.97140	0.9824	10	0.87932	D	0	.	10.8373	0.46694	0.0:0.6413:0.0:0.3586	.	2169;3871;3871	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	W	3871;2169	ENSP00000377862:C3871W;ENSP00000335169:C2169W	ENSP00000335169:C2169W	C	+	3	2	FAT4	126593234	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	1.971000	0.40530	0.580000	0.29522	-0.258000	0.10820	TGC		0.483	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
MAEA	10296	hgsc.bcm.edu	37	4	1305803	1305803	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr4:1305803G>A	ENST00000303400.4	+	2	169	c.106G>A	c.(106-108)Gct>Act	p.A36T	MAEA_ENST00000264750.6_Missense_Mutation_p.A36T|MAEA_ENST00000514708.1_Missense_Mutation_p.A36T|MAEA_ENST00000510794.1_Missense_Mutation_p.A35T|MAEA_ENST00000505839.1_5'UTR|MAEA_ENST00000505177.2_Missense_Mutation_p.A36T|MAEA_ENST00000452175.2_Missense_Mutation_p.A25T	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	36	Extracellular and involved in cell to cell contact.				cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cytoskeleton organization (GO:0007010)|enucleate erythrocyte development (GO:0048822)|erythrocyte maturation (GO:0043249)|negative regulation of myeloid cell apoptotic process (GO:0033033)|regulation of mitotic cell cycle (GO:0007346)	actomyosin contractile ring (GO:0005826)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spindle (GO:0005819)	actin binding (GO:0003779)	p.A36T(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)		WF10(DB05389)	CTTTCGCGCCGCTCAGAAGAA	0.642																																					p.A36T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G106A	4						.						71.0	57.0	62.0					4																	1305803		2203	4300	6503	1295803	SO:0001583	missense	10296	exon2			AF084928	CCDS33936.1, CCDS33937.1, CCDS75090.1	4p16.3	2012-07-20			ENSG00000090316	ENSG00000090316			13731	protein-coding gene	gene with protein product	"""GID complex subunit 9, FYV10 homolog (S. cerevisiae)"""	606801				9763581	Standard	XM_005272243		Approved	EMP, GID9	uc003gda.3	Q7L5Y9	OTTHUMG00000160169	ENST00000303400.4:c.106G>A	4.37:g.1305803G>A	ENSP00000302830:p.Ala36Thr	Somatic		Capture	SOLID	Phase_I	1295803	NM_001017405	O95285|Q5JB54|Q6ZRD6|Q9BQ11|Q9H9V6|Q9H9Z4|Q9NW84	Missense_Mutation	SNP	ENST00000303400.4	37	CCDS33936.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657007	0.88154	.	.	ENSG00000090316	ENST00000303400;ENST00000505177;ENST00000503653;ENST00000264750;ENST00000382947;ENST00000539495;ENST00000502558;ENST00000452175;ENST00000514708;ENST00000510794	T;T;T;T;T;T;T;T	0.49432	0.87;0.86;0.81;0.86;0.78;0.8;0.84;0.85	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.64494	0.2603	M	0.81614	2.55	0.48696	D	0.99969	P;D;P;P;D;B	0.58268	0.918;0.971;0.914;0.474;0.982;0.41	B;P;P;B;P;B	0.52627	0.391;0.459;0.596;0.126;0.704;0.115	T	0.61491	-0.7052	10	0.30078	T	0.28	-5.4561	20.3775	0.98923	0.0:0.0:1.0:0.0	.	35;36;36;36;36;36	B4DVN3;E7ESC7;Q7L5Y9-2;D6RIB6;Q7L5Y9-3;Q7L5Y9	.;.;.;.;.;MAEA_HUMAN	T	36;36;36;36;36;36;36;25;36;35	ENSP00000302830:A36T;ENSP00000422215:A36T;ENSP00000421644:A36T;ENSP00000264750:A36T;ENSP00000426903:A36T;ENSP00000411415:A25T;ENSP00000427512:A36T;ENSP00000426807:A35T	ENSP00000264750:A36T	A	+	1	0	MAEA	1295803	1.000000	0.71417	0.962000	0.40283	0.891000	0.51852	9.479000	0.97929	2.819000	0.97034	0.655000	0.94253	GCT		0.642	MAEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359511.1	NM_005882	
MAEA	10296	hgsc.bcm.edu	37	4	1316280	1316280	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr4:1316280C>T	ENST00000303400.4	+	4	631	c.568C>T	c.(568-570)Cgg>Tgg	p.R190W	MAEA_ENST00000264750.6_Intron|MAEA_ENST00000514708.1_Intron|MAEA_ENST00000510794.1_Missense_Mutation_p.R189W|MAEA_ENST00000505839.1_Missense_Mutation_p.R142W|MAEA_ENST00000505177.2_Missense_Mutation_p.R190W|MAEA_ENST00000452175.2_Missense_Mutation_p.R111W	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	190	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.				cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cytoskeleton organization (GO:0007010)|enucleate erythrocyte development (GO:0048822)|erythrocyte maturation (GO:0043249)|negative regulation of myeloid cell apoptotic process (GO:0033033)|regulation of mitotic cell cycle (GO:0007346)	actomyosin contractile ring (GO:0005826)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spindle (GO:0005819)	actin binding (GO:0003779)	p.R190W(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)		WF10(DB05389)	GTCCCGGCTCCGGAAGATGAA	0.652																																					p.R190W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C568T	4						.						56.0	55.0	55.0					4																	1316280		2203	4300	6503	1306280	SO:0001583	missense	10296	exon4			AF084928	CCDS33936.1, CCDS33937.1, CCDS75090.1	4p16.3	2012-07-20			ENSG00000090316	ENSG00000090316			13731	protein-coding gene	gene with protein product	"""GID complex subunit 9, FYV10 homolog (S. cerevisiae)"""	606801				9763581	Standard	XM_005272243		Approved	EMP, GID9	uc003gda.3	Q7L5Y9	OTTHUMG00000160169	ENST00000303400.4:c.568C>T	4.37:g.1316280C>T	ENSP00000302830:p.Arg190Trp	Somatic		Capture	SOLID	Phase_I	1306280	NM_001017405	O95285|Q5JB54|Q6ZRD6|Q9BQ11|Q9H9V6|Q9H9Z4|Q9NW84	Missense_Mutation	SNP	ENST00000303400.4	37	CCDS33936.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806391	0.90623	.	.	ENSG00000090316	ENST00000303400;ENST00000505177;ENST00000503653;ENST00000539495;ENST00000502558;ENST00000452175;ENST00000510794;ENST00000505839	T;T;T;T;T;T	0.60040	0.71;0.51;0.22;0.75;0.74;0.71	5.94	5.02	0.67125	CTLH, C-terminal LisH motif (2);	0.000000	0.85682	D	0.000000	T	0.75206	0.3818	M	0.81942	2.565	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.77595	-0.2529	10	0.87932	D	0	-18.2625	11.6833	0.51470	0.3783:0.6217:0.0:0.0	.	189;190;190	B4DVN3;E7ESC7;Q7L5Y9	.;.;MAEA_HUMAN	W	190;190;190;169;122;111;189;142	ENSP00000302830:R190W;ENSP00000422215:R190W;ENSP00000421644:R190W;ENSP00000426903:R122W;ENSP00000411415:R111W;ENSP00000426807:R189W	ENSP00000302830:R190W	R	+	1	2	MAEA	1306280	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.738000	0.62073	2.817000	0.96982	0.655000	0.94253	CGG		0.652	MAEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359511.1	NM_005882	
MAEA	10296	hgsc.bcm.edu	37	4	1332342	1332342	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr4:1332342C>T	ENST00000303400.4	+	8	1095	c.1032C>T	c.(1030-1032)ggC>ggT	p.G344G	MAEA_ENST00000264750.6_Silent_p.G303G|MAEA_ENST00000514708.1_Silent_p.G276G|MAEA_ENST00000510794.1_Silent_p.G343G|MAEA_ENST00000505839.1_Silent_p.G296G|MAEA_ENST00000505177.2_Silent_p.G382G|MAEA_ENST00000512289.1_3'UTR|MAEA_ENST00000452175.2_Silent_p.G265G	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	344					cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cytoskeleton organization (GO:0007010)|enucleate erythrocyte development (GO:0048822)|erythrocyte maturation (GO:0043249)|negative regulation of myeloid cell apoptotic process (GO:0033033)|regulation of mitotic cell cycle (GO:0007346)	actomyosin contractile ring (GO:0005826)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spindle (GO:0005819)	actin binding (GO:0003779)	p.G344G(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)		WF10(DB05389)	AGATTTCTGGCGACGTGATGA	0.652																																					p.G344G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1032T	4						.						64.0	52.0	56.0					4																	1332342		2203	4299	6502	1322342	SO:0001819	synonymous_variant	10296	exon8			AF084928	CCDS33936.1, CCDS33937.1, CCDS75090.1	4p16.3	2012-07-20			ENSG00000090316	ENSG00000090316			13731	protein-coding gene	gene with protein product	"""GID complex subunit 9, FYV10 homolog (S. cerevisiae)"""	606801				9763581	Standard	XM_005272243		Approved	EMP, GID9	uc003gda.3	Q7L5Y9	OTTHUMG00000160169	ENST00000303400.4:c.1032C>T	4.37:g.1332342C>T		Somatic		Capture	SOLID	Phase_I	1322342	NM_001017405	O95285|Q5JB54|Q6ZRD6|Q9BQ11|Q9H9V6|Q9H9Z4|Q9NW84	Silent	SNP	ENST00000303400.4	37	CCDS33936.1																																																																																				0.652	MAEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359511.1	NM_005882	
INTU	27152	hgsc.bcm.edu	37	4	128565043	128565043	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr4:128565043G>A	ENST00000335251.6	+	2	617	c.514G>A	c.(514-516)Gtt>Att	p.V172I	INTU_ENST00000296461.5_Missense_Mutation_p.V172I	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	172					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)		p.V172I(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						AAAGCTAACTGTTATCAAAGC	0.433																																					p.V172I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G514A	4						.						113.0	111.0	112.0					4																	128565043		2203	4300	6503	128784493	SO:0001583	missense	27152	exon2			BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.514G>A	4.37:g.128565043G>A	ENSP00000334003:p.Val172Ile	Somatic		Capture	SOLID	Phase_I	128784493	NM_015693	A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	ENST00000335251.6	37	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	G	6.822	0.520825	0.13005	.	.	ENSG00000164066	ENST00000504491;ENST00000335251;ENST00000296461	T	0.46063	0.88	5.1	4.27	0.50696	.	0.474136	0.22701	N	0.056683	T	0.27098	0.0664	L	0.36672	1.1	0.09310	N	1	P	0.38767	0.646	B	0.29862	0.108	T	0.15235	-1.0444	10	0.40728	T	0.16	-4.8124	8.3722	0.32421	0.2181:0.0:0.7819:0.0	.	172	Q9ULD6	PDZD6_HUMAN	I	153;172;172	ENSP00000296461:V172I	ENSP00000296461:V172I	V	+	1	0	INTU	128784493	0.002000	0.14202	0.163000	0.22734	0.296000	0.27459	1.337000	0.33862	1.390000	0.46547	0.655000	0.94253	GTT		0.433	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707	
CCRN4L	25819	hgsc.bcm.edu	37	4	139966215	139966215	+	Missense_Mutation	SNP	C	C	T	rs371556362		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr4:139966215C>T	ENST00000280614.2	+	3	1076	c.883C>T	c.(883-885)Cgg>Tgg	p.R295W	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	295					circadian regulation of gene expression (GO:0032922)|cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of gene expression (GO:0010629)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|regulation of circadian rhythm (GO:0042752)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|response to extracellular stimulus (GO:0009991)|response to lipopolysaccharide (GO:0032496)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A)-specific ribonuclease activity (GO:0004535)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R295W(1)		kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					TGGCTGGGAGCGGTTTCGATC	0.537																																					p.R295W	Ovarian(144;566 1842 19130 21379 22209)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C883T	4						.	C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	86.0	82.0	83.0		883	4.6	1.0	4		83	0,8600		0,0,4300	no	missense	CCRN4L	NM_012118.2	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	295/432	139966215	1,13005	2203	4300	6503	140185665	SO:0001583	missense	25819	exon3			AF183961	CCDS3743.1	4q31.1	2014-06-18	2001-11-28		ENSG00000151014	ENSG00000151014			14254	protein-coding gene	gene with protein product		608468	"""CCR4-like (carbon catabolite repression 4, S.cerevisiae)"""			10521507	Standard	NM_012118		Approved	CCR4L, Ccr4c	uc003ihl.3	Q9UK39	OTTHUMG00000161271	ENST00000280614.2:c.883C>T	4.37:g.139966215C>T	ENSP00000280614:p.Arg295Trp	Somatic		Capture	SOLID	Phase_I	140185665	NM_012118	D3DNY5|Q14D51|Q9HD93|Q9HD94|Q9HD95	Missense_Mutation	SNP	ENST00000280614.2	37	CCDS3743.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.995576	0.35226	2.27E-4	0.0	ENSG00000151014	ENST00000280614	D	0.81821	-1.54	5.48	4.62	0.57501	Endonuclease/exonuclease/phosphatase (2);	0.101176	0.64402	D	0.000004	T	0.78972	0.4368	M	0.73962	2.25	0.80722	D	1	B	0.18461	0.028	B	0.17098	0.017	T	0.74182	-0.3748	9	.	.	.	-16.3327	12.6848	0.56942	0.4538:0.5462:0.0:0.0	.	295	Q9UK39	NOCT_HUMAN	W	295	ENSP00000280614:R295W	.	R	+	1	2	CCRN4L	140185665	0.998000	0.40836	0.996000	0.52242	0.993000	0.82548	0.880000	0.28159	1.299000	0.44798	0.484000	0.47621	CGG		0.537	CCRN4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257231.3	NM_012118	
GAB1	2549	hgsc.bcm.edu	37	4	144359649	144359649	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr4:144359649G>A	ENST00000262994.4	+	4	1393	c.1091G>A	c.(1090-1092)cGc>cAc	p.R364H	GAB1_ENST00000262995.4_Missense_Mutation_p.R364H|GAB1_ENST00000505913.1_Missense_Mutation_p.R261H	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	364					activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.R364H(1)		breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					AGTATCCCACGCACCGCCTCA	0.483																																					p.R364H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1091A	4						.						146.0	120.0	129.0					4																	144359649		2203	4300	6503	144579099	SO:0001583	missense	2549	exon4			U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"""Pleckstrin homology (PH) domain containing"""	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.1091G>A	4.37:g.144359649G>A	ENSP00000262994:p.Arg364His	Somatic		Capture	SOLID	Phase_I	144579099	NM_207123	A8K152|Q4W5G2|Q6P1W2	Missense_Mutation	SNP	ENST00000262994.4	37	CCDS3759.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.847848	0.71603	.	.	ENSG00000109458	ENST00000262995;ENST00000262994;ENST00000505913	T;T;T	0.42513	0.97;0.97;0.97	5.8	4.96	0.65561	.	0.047453	0.85682	N	0.000000	T	0.34221	0.0890	L	0.31157	0.91	0.80722	D	1	B;B	0.15141	0.005;0.012	B;B	0.15052	0.004;0.012	T	0.12116	-1.0560	10	0.72032	D	0.01	-0.1509	14.6551	0.68828	0.0692:0.0:0.9308:0.0	.	364;364	Q13480;Q13480-2	GAB1_HUMAN;.	H	364;364;261	ENSP00000262995:R364H;ENSP00000262994:R364H;ENSP00000424554:R261H	ENSP00000262994:R364H	R	+	2	0	GAB1	144579099	1.000000	0.71417	0.896000	0.35187	0.956000	0.61745	7.260000	0.78391	1.455000	0.47813	0.655000	0.94253	CGC		0.483	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364998.1	NM_002039	
ZNF827	152485	hgsc.bcm.edu	37	4	146807237	146807237	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr4:146807237C>T	ENST00000508784.1	-	4	1567	c.1340G>A	c.(1339-1341)aGc>aAc	p.S447N	ZNF827_ENST00000513320.1_Missense_Mutation_p.S97N|ZNF827_ENST00000379448.4_Missense_Mutation_p.S447N			Q17R98	ZN827_HUMAN	zinc finger protein 827	447					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S447N(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GAGTTTCAGGCTGAAGTGGCG	0.547																																					p.S447N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1340A	4						.						98.0	87.0	91.0					4																	146807237		2203	4300	6503	147026687	SO:0001583	missense	152485	exon4			AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.1340G>A	4.37:g.146807237C>T	ENSP00000421863:p.Ser447Asn	Somatic		Capture	SOLID	Phase_I	147026687	NM_178835	B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	ENST00000508784.1	37		.	.	.	.	.	.	.	.	.	.	C	29.2	4.989576	0.93106	.	.	ENSG00000151612	ENST00000508784;ENST00000513320;ENST00000379448;ENST00000281318;ENST00000440280	T;T;T	0.28454	1.61;1.61;1.61	5.41	5.41	0.78517	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.39835	0.1093	N	0.11789	0.175	0.58432	D	0.999995	D;D;D	0.62365	0.989;0.991;0.981	D;D;D	0.76575	0.979;0.988;0.972	T	0.41142	-0.9525	10	0.41790	T	0.15	-15.5349	19.1949	0.93684	0.0:1.0:0.0:0.0	.	97;447;447	G5E9Z1;Q17R98;Q17R98-2	.;ZN827_HUMAN;.	N	447;97;447;446;97	ENSP00000421863:S447N;ENSP00000423130:S97N;ENSP00000368761:S447N	ENSP00000281318:S446N	S	-	2	0	ZNF827	147026687	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.540000	0.85666	0.561000	0.74099	AGC		0.547	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835	
PRMT9	90826	hgsc.bcm.edu	37	4	148591817	148591817	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr4:148591817C>T	ENST00000322396.6	-	5	1063	c.821G>A	c.(820-822)tGg>tAg	p.W274*	PRMT10_ENST00000541232.1_Nonsense_Mutation_p.W161*|TMEM184C_ENST00000508208.1_Intron	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		274	SAM-dependent MTase PRMT-type 1. {ECO:0000255|PROSITE-ProRule:PRU01015}.					cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)	p.W274*(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						TAAATGCTCCCATGCATGAAT	0.328																																					p.W274X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G821A	4						.						132.0	136.0	134.0					4																	148591817		2203	4300	6503	148811267	SO:0001587	stop_gained	90826	exon5																														ENST00000322396.6:c.821G>A	4.37:g.148591817C>T	ENSP00000314396:p.Trp274*	Somatic		Capture	SOLID	Phase_I	148811267	NM_138364	A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Nonsense_Mutation	SNP	ENST00000322396.6	37	CCDS3771.1	.	.	.	.	.	.	.	.	.	.	C	38	7.216157	0.98143	.	.	ENSG00000164169	ENST00000322396;ENST00000541232	.	.	.	5.5	5.5	0.81552	.	0.111592	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-21.7934	19.8044	0.96525	0.0:1.0:0.0:0.0	.	.	.	.	X	274;161	.	ENSP00000314396:W274X	W	-	2	0	PRMT10	148811267	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.279000	0.78599	2.754000	0.94517	0.650000	0.86243	TGG		0.328	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364650.1		
NR3C2	4306	hgsc.bcm.edu	37	4	149115980	149115980	+	Missense_Mutation	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr4:149115980T>C	ENST00000358102.3	-	4	2293	c.1931A>G	c.(1930-1932)gAt>gGt	p.D644G	NR3C2_ENST00000511528.1_Missense_Mutation_p.D648G|NR3C2_ENST00000512865.1_Missense_Mutation_p.D644G|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000344721.4_Missense_Mutation_p.D644G|NR3C2_ENST00000355292.3_Missense_Mutation_p.D648G|NR3C2_ENST00000503313.1_5'UTR	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	644					gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.D644G(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	AATGATGCAATCATTTCTTCC	0.303																																					p.D644G	Melanoma(27;428 957 40335 51025 51111)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1931G	4						.						103.0	103.0	103.0					4																	149115980		2203	4300	6503	149335430	SO:0001583	missense	4306	exon4			M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.1931A>G	4.37:g.149115980T>C	ENSP00000350815:p.Asp644Gly	Somatic		Capture	SOLID	Phase_I	149335430	NM_001166104	B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.004776	0.93287	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.96396	-4.0;-4.0;-4.0;-4.0;-4.0;-4.0	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.97439	0.9162	L	0.60067	1.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97395	0.9992	9	.	.	.	.	16.2585	0.82528	0.0:0.0:0.0:1.0	.	644;644	B0ZBF5;B0ZBF6	.;.	G	644;648;644;644;644;648	ENSP00000341390:D644G;ENSP00000347441:D648G;ENSP00000350815:D644G;ENSP00000423510:D644G;ENSP00000343907:D644G;ENSP00000421481:D648G	.	D	-	2	0	NR3C2	149335430	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.295000	0.77249	0.528000	0.53228	GAT		0.303	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1		
SH3D19	152503	hgsc.bcm.edu	37	4	152054382	152054382	+	Silent	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr4:152054382T>C	ENST00000409252.2	-	16	2429	c.1722A>G	c.(1720-1722)tcA>tcG	p.S574S	SH3D19_ENST00000514152.1_Silent_p.S551S|SH3D19_ENST00000427414.2_Silent_p.S515S|SH3D19_ENST00000455740.1_Silent_p.S551S|SH3D19_ENST00000304527.4_Silent_p.S574S|SH3D19_ENST00000424281.1_Silent_p.S515S|SH3D19_ENST00000409598.4_Silent_p.S551S			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	574	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)	p.S571S(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				CAACACATCTTGAGCCTCTGA	0.338																																					p.S574S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1722G	4						.						55.0	56.0	56.0					4																	152054382		2203	4300	6503	152273832	SO:0001819	synonymous_variant	152503	exon17			BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"""EEN binding protein"""	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.1722A>G	4.37:g.152054382T>C		Somatic		Capture	SOLID	Phase_I	152273832	NM_001009555	B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Silent	SNP	ENST00000409252.2	37	CCDS34077.2																																																																																				0.338	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3	NM_001009555	
FBXW7	55294	hgsc.bcm.edu	37	4	153249384	153249384	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr4:153249384C>T	ENST00000281708.4	-	9	2623	c.1394G>A	c.(1393-1395)cGt>cAt	p.R465H	FBXW7_ENST00000296555.5_Missense_Mutation_p.R347H|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385H|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465H|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465H|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289H	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	465			R -> C (in a acute lymphoblastic leukemia cell line). {ECO:0000269|PubMed:11565033}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R465H(69)|p.R385H(16)|p.R226H(16)|p.R465L(4)|p.R347H(4)|p.R465Y(2)|p.?(1)|p.R385L(1)|p.R226L(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATGCATACAACGCACAGTGGA	0.408			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																p.R385H			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	FBXW7,large_intestine,NS,Substitution - Missense,0	.	114	Substitution - Missense(113)|Unknown(1)	haematopoietic_and_lymphoid_tissue(40)|large_intestine(39)|endometrium(24)|lung(5)|ovary(4)|cervix(1)|biliary_tract(1)	c.G1154A	4						.						253.0	218.0	230.0					4																	153249384		2203	4300	6503	153468834	SO:0001583	missense	55294	exon8			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1394G>A	4.37:g.153249384C>T	ENSP00000281708:p.Arg465His	Somatic		Capture	SOLID	Phase_I	153468834	NM_018315	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	32	5.178201	0.94846	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	6.05	6.05	0.98169	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.63827	0.2544	L	0.56124	1.755	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	T	0.62469	-0.6848	10	0.87932	D	0	-17.2313	20.6013	0.99457	0.0:1.0:0.0:0.0	.	289;465;347;385	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	H	465;347;385;289	ENSP00000281708:R465H;ENSP00000296555:R347H;ENSP00000263981:R385H;ENSP00000377528:R289H	ENSP00000263981:R385H	R	-	2	0	FBXW7	153468834	1.000000	0.71417	0.960000	0.40013	0.996000	0.88848	7.818000	0.86416	2.878000	0.98634	0.650000	0.86243	CGT		0.408	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
SPOCK3	50859	hgsc.bcm.edu	37	4	167656087	167656087	+	Missense_Mutation	SNP	A	A	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr4:167656087A>T	ENST00000357154.3	-	12	1433	c.1296T>A	c.(1294-1296)caT>caA	p.H432Q	SPOCK3_ENST00000502330.1_Missense_Mutation_p.H432Q|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000511531.1_Missense_Mutation_p.H432Q|SPOCK3_ENST00000510741.1_Missense_Mutation_p.H389Q|SPOCK3_ENST00000504953.1_Missense_Mutation_p.H429Q|SPOCK3_ENST00000421836.2_Missense_Mutation_p.H381Q|SPOCK3_ENST00000357545.4_Missense_Mutation_p.H429Q|SPOCK3_ENST00000541354.1_Missense_Mutation_p.H312Q|SPOCK3_ENST00000534949.1_Missense_Mutation_p.H336Q|SPOCK3_ENST00000512681.1_Missense_Mutation_p.H334Q|SPOCK3_ENST00000506886.1_Missense_Mutation_p.H432Q|SPOCK3_ENST00000541637.1_Missense_Mutation_p.H334Q|SPOCK3_ENST00000535728.1_Missense_Mutation_p.H300Q|SPOCK3_ENST00000511269.1_Missense_Mutation_p.H429Q	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	432	Asp-rich.				negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)	p.H429Q(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		tgtatacatcatggtcatcac	0.308																																					p.H432Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1296A	4						.						160.0	151.0	154.0					4																	167656087		2203	4300	6503	167892662	SO:0001583	missense	50859	exon12			AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.1296T>A	4.37:g.167656087A>T	ENSP00000349677:p.His432Gln	Somatic		Capture	SOLID	Phase_I	167892662	NM_016950	B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Missense_Mutation	SNP	ENST00000357154.3	37	CCDS54817.1	.	.	.	.	.	.	.	.	.	.	A	2.330	-0.353548	0.05173	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000541354;ENST00000512681;ENST00000511269;ENST00000535728;ENST00000421836;ENST00000541637;ENST00000534949	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31	5.14	-1.79	0.07932	.	0.302951	0.31210	N	0.008055	T	0.56202	0.1969	N	0.08118	0	0.31308	N	0.687489	B;B;B;B;B;B;B	0.09022	0.001;0.002;0.001;0.001;0.001;0.002;0.001	B;B;B;B;B;B;B	0.08055	0.001;0.002;0.001;0.001;0.001;0.003;0.001	T	0.47849	-0.9085	10	0.87932	D	0	-15.4415	5.7144	0.17952	0.5546:0.1426:0.3028:0.0	.	334;336;381;441;389;429;432	B4DGK5;F5H099;B4DHB4;B4DFW5;E7EP61;Q9BQ16-1;Q9BQ16	.;.;.;.;.;.;TICN3_HUMAN	Q	432;429;429;432;432;432;389;312;334;429;300;381;334;336	ENSP00000349677:H432Q;ENSP00000350153:H429Q;ENSP00000425570:H429Q;ENSP00000420920:H432Q;ENSP00000423421:H432Q;ENSP00000423606:H432Q;ENSP00000426716:H389Q;ENSP00000444789:H312Q;ENSP00000426318:H334Q;ENSP00000425502:H429Q;ENSP00000441396:H300Q;ENSP00000411344:H381Q;ENSP00000445430:H334Q;ENSP00000438142:H336Q	ENSP00000349677:H432Q	H	-	3	2	SPOCK3	167892662	1.000000	0.71417	0.981000	0.43875	0.013000	0.08279	0.767000	0.26575	-0.204000	0.10235	-0.312000	0.09012	CAT		0.308	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1		
NELFA	7469	hgsc.bcm.edu	37	4	1989707	1989707	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr4:1989707C>T	ENST00000411638.2	-	4	587	c.572G>A	c.(571-573)cGg>cAg	p.R191Q	NELFA_ENST00000542778.1_Missense_Mutation_p.R56Q|NELFA_ENST00000382882.3_Missense_Mutation_p.R202Q|MIR943_ENST00000401286.1_RNA	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	191	HDAg-like.				gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.R191Q(1)									CCCGGCGCTCCGCTTCAACTG	0.622																																					p.R202Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G605A	4						.						30.0	35.0	33.0					4																	1989707		2203	4300	6503	1959505	SO:0001583	missense	7469	exon4			AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"""Wolf-Hirschhorn syndrome candidate 2"""	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.572G>A	4.37:g.1989707C>T	ENSP00000399165:p.Arg191Gln	Somatic		Capture	SOLID	Phase_I	1959505	NM_005663	A2A2T1|O95392	Missense_Mutation	SNP	ENST00000411638.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.11|18.11	3.551934|3.551934	0.65311|0.65311	.|.	.|.	ENSG00000185049|ENSG00000185049	ENST00000453740;ENST00000411649|ENST00000382882;ENST00000416258;ENST00000542778;ENST00000411638;ENST00000431323;ENST00000455762	.|T;T;T;T;T	.|0.43294	.|1.68;0.95;0.97;1.68;1.68	5.17|5.17	3.1|3.1	0.35709|0.35709	.|.	.|0.045781	.|0.85682	.|D	.|0.000000	T|T	0.20047|0.20047	0.0482|0.0482	N|N	0.14661|0.14661	0.345|0.345	0.34646|0.34646	D|D	0.721148|0.721148	.|B	.|0.31413	.|0.322	.|B	.|0.28709	.|0.093	T|T	0.19031|0.19031	-1.0318|-1.0318	5|10	.|0.56958	.|D	.|0.05	-38.9756|-38.9756	2.0219|2.0219	0.03510|0.03510	0.2906:0.4522:0.0:0.2573|0.2906:0.4522:0.0:0.2573	.|.	.|191	.|Q9H3P2	.|NELFA_HUMAN	R|Q	92;175|202;195;56;191;207;121	.|ENSP00000372335:R202Q;ENSP00000387647:R195Q;ENSP00000445757:R56Q;ENSP00000399165:R191Q;ENSP00000395761:R207Q	.|ENSP00000372335:R202Q	G|R	-|-	1|2	0|0	WHSC2|WHSC2	1959505|1959505	1.000000|1.000000	0.71417|0.71417	0.407000|0.407000	0.26434|0.26434	0.640000|0.640000	0.38277|0.38277	4.148000|4.148000	0.58085|0.58085	1.145000|1.145000	0.42336|0.42336	0.563000|0.563000	0.77884|0.77884	GGA|CGG		0.622	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473007.1	NM_005663	
RGS12	6002	hgsc.bcm.edu	37	4	3318383	3318383	+	Missense_Mutation	SNP	G	G	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr4:3318383G>T	ENST00000344733.5	+	2	1390	c.486G>T	c.(484-486)gaG>gaT	p.E162D	RGS12_ENST00000382788.3_Missense_Mutation_p.E162D|RGS12_ENST00000336727.3_Missense_Mutation_p.E162D|RGS12_ENST00000543385.1_Missense_Mutation_p.E162D	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	162					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)	p.E162D(1)		autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCAATTCAGAGCCCTTGAAAT	0.413																																					p.E162D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G486T	4						.						46.0	52.0	50.0					4																	3318383		2203	4300	6503	3288181	SO:0001583	missense	6002	exon2			AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.486G>T	4.37:g.3318383G>T	ENSP00000339381:p.Glu162Asp	Somatic		Capture	SOLID	Phase_I	3288181	NM_002926	B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	G	6.487	0.458075	0.12342	.	.	ENSG00000159788	ENST00000543385;ENST00000344733;ENST00000336727;ENST00000382788	T;T;T;T	0.29397	1.57;1.67;1.66;1.66	4.42	3.46	0.39613	.	0.120591	0.53938	D	0.000043	T	0.15696	0.0378	N	0.11818	0.18	0.80722	D	1	B;B;B	0.10296	0.002;0.003;0.001	B;B;B	0.09377	0.002;0.004;0.003	T	0.07578	-1.0765	10	0.18276	T	0.48	-13.2234	10.9871	0.47528	0.0:0.0:0.6917:0.3082	.	162;162;162	Q8WX97;O14924;O14924-4	.;RGS12_HUMAN;.	D	162	ENSP00000440566:E162D;ENSP00000339381:E162D;ENSP00000338509:E162D;ENSP00000372238:E162D	ENSP00000338509:E162D	E	+	3	2	RGS12	3288181	0.933000	0.31639	0.990000	0.47175	0.491000	0.33493	1.032000	0.30178	2.022000	0.59522	0.491000	0.48974	GAG		0.413	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926	
WFS1	7466	hgsc.bcm.edu	37	4	6302674	6302674	+	Silent	SNP	C	C	T	rs149846741		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr4:6302674C>T	ENST00000226760.1	+	8	1322	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F	WFS1_ENST00000503569.1_Silent_p.F384F	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	384					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)	p.F384F(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TGCTGCGCTTCGAGCCCAACC	0.582													c|||	1	0.000199681	0.0008	0.0	5008	,	,		22043	0.0		0.0	False		,,,				2504	0.0				p.F384F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1152T	4						.		,	3,4403	6.2+/-15.9	0,3,2200	196.0	176.0	183.0		1152,1152	1.6	1.0	4	dbSNP_134	183	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	WFS1	NM_001145853.1,NM_006005.3	,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,	384/891,384/891	6302674	3,13003	2203	4300	6503	6353575	SO:0001819	synonymous_variant	7466	exon8			AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.1152C>T	4.37:g.6302674C>T		Somatic		Capture	SOLID	Phase_I	6353575	NM_001145853	B2R797|D3DVT1|Q8N6I3|Q9UNW6	Silent	SNP	ENST00000226760.1	37	CCDS3386.1																																																																																				0.582	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1		
PPARGC1A	10891	hgsc.bcm.edu	37	4	23830042	23830042	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr4:23830042C>T	ENST00000264867.2	-	5	857	c.738G>A	c.(736-738)tcG>tcA	p.S246S	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	246					androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.S246S(2)		central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GTTGTGACTGCGACTGTGTGT	0.498																																					p.S246S	Esophageal Squamous(29;694 744 13796 34866 44181)											.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.G738A	4						.						379.0	333.0	348.0					4																	23830042		2203	4300	6503	23439140	SO:0001819	synonymous_variant	10891	exon5			AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.738G>A	4.37:g.23830042C>T		Somatic		Capture	SOLID	Phase_I	23439140	NM_013261	B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Silent	SNP	ENST00000264867.2	37	CCDS3429.1																																																																																				0.498	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261	
N4BP2	55728	hgsc.bcm.edu	37	4	40146341	40146341	+	Missense_Mutation	SNP	G	G	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr4:40146341G>T	ENST00000261435.6	+	16	5480	c.5064G>T	c.(5062-5064)caG>caT	p.Q1688H		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1688					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)	p.Q1688H(1)		breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TGCTGCCACAGAATGTTTTAG	0.423																																					p.Q1688H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5064T	4						.						147.0	140.0	142.0					4																	40146341		2203	4300	6503	39822736	SO:0001583	missense	55728	exon16			AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.5064G>T	4.37:g.40146341G>T	ENSP00000261435:p.Gln1688His	Somatic		Capture	SOLID	Phase_I	39822736	NM_018177	A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.36|15.36	2.810586|2.810586	0.50421|0.50421	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000513269|ENST00000261435;ENST00000381804	.|T	.|0.19105	.|2.17	5.15|5.15	2.5|2.5	0.30297|0.30297	.|.	.|0.443166	.|0.22428	.|N	.|0.060193	.|T	.|0.27278	.|0.0669	L|L	0.45581|0.45581	1.43|1.43	0.39791|0.39791	D|D	0.972436|0.972436	.|P;P	.|0.45348	.|0.856;0.775	.|P;P	.|0.51657	.|0.676;0.477	.|T	.|0.02070	.|-1.1219	.|10	.|0.56958	.|D	.|0.05	-7.0498|-7.0498	8.9209|8.9209	0.35610|0.35610	0.3003:0.0:0.6996:0.0|0.3003:0.0:0.6996:0.0	.|.	.|1671;1688	.|Q86UW6-2;Q86UW6	.|.;N4BP2_HUMAN	X|H	1318|1688;1608	.|ENSP00000261435:Q1688H	.|ENSP00000261435:Q1688H	E|Q	+|+	1|3	0|2	N4BP2|N4BP2	39822736|39822736	1.000000|1.000000	0.71417|0.71417	0.891000|0.891000	0.34965|0.34965	0.992000|0.992000	0.81027|0.81027	3.196000|3.196000	0.51020|0.51020	0.196000|0.196000	0.20367|0.20367	0.455000|0.455000	0.32223|0.32223	GAA|CAG		0.423	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177	
RHOH	399	hgsc.bcm.edu	37	4	40245212	40245212	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr4:40245212G>A	ENST00000381799.5	+	3	930	c.206G>A	c.(205-207)cGg>cAg	p.R69Q	RHOH_ENST00000505618.1_Missense_Mutation_p.R69Q	NM_001278363.1|NM_001278365.1|NM_001278366.1|NM_001278367.1|NM_001278369.1|NM_004310.4	NP_001265292.1|NP_001265294.1|NP_001265295.1|NP_001265296.1|NP_001265298.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	69					mast cell activation (GO:0045576)|negative regulation of catalytic activity (GO:0043086)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of phosphorylation (GO:0042326)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase inhibitor activity (GO:0005095)|kinase inhibitor activity (GO:0019210)|Rho GTPase binding (GO:0017048)	p.R69Q(1)		kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						AGAAGCATCCGGCCCCTGTCC	0.542																																					p.R69Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G206A	4						.						89.0	81.0	84.0					4																	40245212		2203	4300	6503	39921607	SO:0001583	missense	399	exon3			Z35227	CCDS3458.1	4p13	2014-09-17	2012-02-27	2004-03-24	ENSG00000168421	ENSG00000168421			686	protein-coding gene	gene with protein product		602037	"""ras homolog gene family, member H"""	ARHH		7784061	Standard	NM_001278359		Approved	RhoH, TTF	uc003guz.2	Q15669	OTTHUMG00000099373	ENST00000381799.5:c.206G>A	4.37:g.40245212G>A	ENSP00000371219:p.Arg69Gln	Somatic		Capture	SOLID	Phase_I	39921607	NM_004310		Missense_Mutation	SNP	ENST00000381799.5	37	CCDS3458.1	.	.	.	.	.	.	.	.	.	.	g	29.4	5.004323	0.93287	.	.	ENSG00000168421	ENST00000505618;ENST00000507851;ENST00000503941;ENST00000381799	T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63	5.64	5.64	0.86602	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90140	0.6919	H	0.97131	3.945	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	D	0.92988	0.6412	10	0.87932	D	0	.	19.6928	0.96009	0.0:0.0:1.0:0.0	.	69	Q15669	RHOH_HUMAN	Q	69	ENSP00000425010:R69Q;ENSP00000423384:R69Q;ENSP00000426439:R69Q;ENSP00000371219:R69Q	ENSP00000371219:R69Q	R	+	2	0	RHOH	39921607	1.000000	0.71417	0.963000	0.40424	0.673000	0.39480	9.476000	0.97823	2.650000	0.89964	0.585000	0.79938	CGG		0.542	RHOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216820.3	NM_004310	
DCAF4L1	285429	hgsc.bcm.edu	37	4	41984616	41984616	+	Silent	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr4:41984616T>C	ENST00000333141.5	+	1	904	c.807T>C	c.(805-807)caT>caC	p.H269H		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	269								p.H269H(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						GCCTGTTCCATGACTCAGCAG	0.527																																					p.H269H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T807C	4						.						121.0	112.0	115.0					4																	41984616		2203	4300	6503	41679373	SO:0001819	synonymous_variant	285429	exon1			BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"""WD repeat domain containing"""	27723	protein-coding gene	gene with protein product			"""WD repeat domain 21B"""	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.807T>C	4.37:g.41984616T>C		Somatic		Capture	SOLID	Phase_I	41679373	NM_001029955	B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Silent	SNP	ENST00000333141.5	37	CCDS33978.1																																																																																				0.527	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360958.1	NM_001029955	
PPEF2	5470	hgsc.bcm.edu	37	4	76809422	76809422	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr4:76809422C>T	ENST00000286719.7	-	6	833	c.477G>A	c.(475-477)caG>caA	p.Q159Q		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	159	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)	p.Q159Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGTTTGGCAGCTGTACCAGAT	0.483																																					p.Q159Q	NSCLC(105;1359 1603 15961 44567 47947)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G477A	4						.						175.0	153.0	160.0					4																	76809422		2203	4300	6503	77028446	SO:0001819	synonymous_variant	5470	exon6			AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.477G>A	4.37:g.76809422C>T		Somatic		Capture	SOLID	Phase_I	77028446	NM_006239	O14831	Silent	SNP	ENST00000286719.7	37	CCDS34013.1																																																																																				0.483	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239	
WDFY3	23001	hgsc.bcm.edu	37	4	85611756	85611756	+	Missense_Mutation	SNP	T	T	C	rs561554379		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr4:85611756T>C	ENST00000295888.4	-	61	9673	c.9266A>G	c.(9265-9267)aAc>aGc	p.N3089S	RN7SL552P_ENST00000462094.2_RNA|WDFY3_ENST00000322366.6_Missense_Mutation_p.N3072S	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3089	Interaction with ATG5.|Interaction with SQSTM1.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.N3089S(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CAGCTTGGGGTTGGGGCAGAT	0.507													T|||	1	0.000199681	0.0	0.0	5008	,	,		19525	0.001		0.0	False		,,,				2504	0.0				p.N3089S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A9266G	4						.						121.0	107.0	112.0					4																	85611756		2203	4300	6503	85830780	SO:0001583	missense	23001	exon61			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.9266A>G	4.37:g.85611756T>C	ENSP00000295888:p.Asn3089Ser	Somatic		Capture	SOLID	Phase_I	85830780	NM_014991	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	T	11.01	1.512000	0.27036	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.29655	1.56;1.56	6.02	3.22	0.36961	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.137662	0.64402	N	0.000005	T	0.15998	0.0385	N	0.11560	0.145	0.58432	D	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.05037	-1.0910	10	0.33141	T	0.24	.	10.6405	0.45590	0.0:0.1974:0.0:0.8026	.	3089	Q8IZQ1	WDFY3_HUMAN	S	3072;3089	ENSP00000318466:N3072S;ENSP00000295888:N3089S	ENSP00000295888:N3089S	N	-	2	0	WDFY3	85830780	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.863000	0.39459	1.051000	0.40369	0.528000	0.53228	AAC		0.507	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	
PDLIM5	10611	hgsc.bcm.edu	37	4	95575666	95575666	+	Missense_Mutation	SNP	G	G	A	rs200640873	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr4:95575666G>A	ENST00000317968.4	+	10	1475	c.1339G>A	c.(1339-1341)Gct>Act	p.A447T	PDLIM5_ENST00000542407.1_Missense_Mutation_p.A325T|PDLIM5_ENST00000514743.1_Missense_Mutation_p.A476T|PDLIM5_ENST00000437932.1_Missense_Mutation_p.A338T|PDLIM5_ENST00000380176.3_3'UTR	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	447	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)	p.A447T(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		ATTCAACTGCGCTCACTGCAA	0.433													G|||	19	0.00379393	0.0	0.0	5008	,	,		15638	0.0		0.0	False		,,,				2504	0.0194				p.A338T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1012A	4						.	G	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	109.0	111.0	110.0		1012,1339	4.1	1.0	4		110	0,8600		0,0,4300	no	missense,missense	PDLIM5	NM_001011513.2,NM_006457.3	58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	338/488,447/597	95575666	1,13005	2203	4300	6503	95794689	SO:0001583	missense	10611	exon10			AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.1339G>A	4.37:g.95575666G>A	ENSP00000321746:p.Ala447Thr	Somatic		Capture	SOLID	Phase_I	95794689	NM_001011513	A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	ENST00000317968.4	37	CCDS3641.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.652072	0.67472	2.27E-4	0.0	ENSG00000163110	ENST00000437932;ENST00000317968;ENST00000503974;ENST00000542407;ENST00000514743	D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32	5.86	4.13	0.48395	Zinc finger, LIM-type (4);	0.102692	0.64402	D	0.000003	D	0.89476	0.6726	L	0.41492	1.28	0.54753	D	0.999984	D;D;B;D	0.62365	0.977;0.991;0.082;0.968	D;D;B;P	0.65874	0.939;0.914;0.061;0.793	D	0.88034	0.2777	10	0.39692	T	0.17	.	14.8282	0.70130	0.0:0.0:0.6238:0.3762	.	344;476;447;338	E9PBF5;D6RB78;Q96HC4;Q96HC4-4	.;.;PDLI5_HUMAN;.	T	338;447;344;325;476	ENSP00000398469:A338T;ENSP00000321746:A447T;ENSP00000424297:A344T;ENSP00000442187:A325T;ENSP00000424360:A476T	ENSP00000321746:A447T	A	+	1	0	PDLIM5	95794689	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	4.731000	0.62022	0.802000	0.34089	-0.203000	0.12734	GCT		0.433	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253586.1		
KLKB1	3818	hgsc.bcm.edu	37	4	187172698	187172698	+	Missense_Mutation	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr4:187172698T>C	ENST00000264690.6	+	9	1113	c.926T>C	c.(925-927)gTg>gCg	p.V309A	KLKB1_ENST00000513864.1_Missense_Mutation_p.V309A	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	309	Apple 4. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.V309A(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GAATTGAATGTGACTTTTGTT	0.378																																					p.V309A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T926C	4						.						104.0	110.0	108.0					4																	187172698		2203	4300	6503	187409692	SO:0001583	missense	3818	exon9			M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.926T>C	4.37:g.187172698T>C	ENSP00000264690:p.Val309Ala	Somatic		Capture	SOLID	Phase_I	187409692	NM_000892	A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	CCDS34120.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	7.595|7.595	0.671664|0.671664	0.14776|0.14776	.|.	.|.	ENSG00000164344|ENSG00000164344	ENST00000264690;ENST00000513864;ENST00000418715|ENST00000511608	D;D|.	0.88741|.	-2.42;-2.42|.	5.27|5.27	-3.51|-3.51	0.04696|0.04696	Apple domain (2);PAN-1 domain (1);Apple-like (1);|.	0.523591|.	0.17926|.	N|.	0.157349|.	T|.	0.31606|.	0.0802|.	L|L	0.42487|0.42487	1.325|1.325	0.09310|0.09310	N|N	1|1	B;B;B|.	0.17038|.	0.012;0.02;0.012|.	B;B;B|.	0.23852|.	0.011;0.049;0.011|.	T|.	0.38243|.	-0.9670|.	10|.	0.39692|.	T|.	0.17|.	.|.	4.3434|4.3434	0.11120|0.11120	0.3116:0.2238:0.0:0.4646|0.3116:0.2238:0.0:0.4646	.|.	271;309;309|.	E7EQA8;A8K9A9;P03952|.	.;.;KLKB1_HUMAN|.	A|R	309;309;271|357	ENSP00000264690:V309A;ENSP00000424469:V309A|.	ENSP00000264690:V309A|.	V|X	+|+	2|1	0|0	KLKB1|KLKB1	187409692|187409692	0.000000|0.000000	0.05858|0.05858	0.063000|0.063000	0.19743|0.19743	0.070000|0.070000	0.16714|0.16714	0.123000|0.123000	0.15708|0.15708	-0.182000|-0.182000	0.10602|0.10602	-0.348000|-0.348000	0.07805|0.07805	GTG|TGA		0.378	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892	
CLCN4	1183	hgsc.bcm.edu	37	X	10166060	10166060	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chrX:10166060C>T	ENST00000380833.4	+	6	905	c.514C>T	c.(514-516)Cgt>Tgt	p.R172C	CLCN4_ENST00000380829.1_Missense_Mutation_p.R172C|CLCN4_ENST00000421085.2_Missense_Mutation_p.R78C	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	172					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.R172C(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CTCCCTGGTGCGTGTATTTGC	0.433													C|||	1	0.000264901	0.0008	0.0	3775	,	,		15610	0.0		0.0	False		,,,				2504	0.0				p.R172C	Melanoma(74;1050 1296 1576 30544 38374)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C514T	X						.						255.0	209.0	225.0					X																	10166060		2203	4300	6503	10126060	SO:0001583	missense	1183	exon6			X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"""Ion channels / Chloride channels : Voltage-sensitive"""	2022	protein-coding gene	gene with protein product		302910	"""chloride channel 4"""			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.514C>T	X.37:g.10166060C>T	ENSP00000370213:p.Arg172Cys	Somatic		Capture	SOLID	Phase_I	10126060	NM_001830	A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation	SNP	ENST00000380833.4	37	CCDS14137.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643393	0.67244	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000421085	D;D;D	0.94650	-3.48;-3.48;-3.48	5.4	2.21	0.28008	Chloride channel, core (2);	0.116317	0.56097	D	0.000022	D	0.95872	0.8656	M	0.64676	1.99	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	D	0.95289	0.8393	10	0.87932	D	0	-22.8725	13.1171	0.59305	0.5807:0.4193:0.0:0.0	.	172	P51793	CLCN4_HUMAN	C	172;172;78	ENSP00000370213:R172C;ENSP00000370209:R172C;ENSP00000405754:R78C	ENSP00000370209:R172C	R	+	1	0	CLCN4	10126060	0.997000	0.39634	0.215000	0.23724	0.996000	0.88848	1.867000	0.39499	0.445000	0.26639	0.544000	0.68410	CGT		0.433	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1		
NGFRAP1	27018	hgsc.bcm.edu	37	X	102632482	102632482	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chrX:102632482C>T	ENST00000372645.3	+	3	390	c.63C>T	c.(61-63)gaC>gaT	p.D21D	NGFRAP1_ENST00000299872.7_Silent_p.D21D|NGFRAP1_ENST00000361298.4_Silent_p.D11D|NGFRAP1_ENST00000372635.1_Silent_p.D21D|NGFRAP1_ENST00000372634.1_Silent_p.D11D			Q00994	BEX3_HUMAN	nerve growth factor receptor (TNFRSF16) associated protein 1	21					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|metal ion binding (GO:0046872)	p.D21D(1)		NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						GAGAGGAAGACCGCCCTTTGG	0.498																																					p.D11D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C33T	X						.						159.0	156.0	157.0					X																	102632482		2203	4300	6503	102519138	SO:0001819	synonymous_variant	27018	exon3			AF187064	CCDS14508.1, CCDS14509.1	Xq22.2	2014-03-21			ENSG00000166681	ENSG00000166681			13388	protein-coding gene	gene with protein product	"""brain expressed, X-linked 3"""	300361				10764727, 16221301, 2171551	Standard	NM_206915		Approved	BEX3, HGR74, Bex, NADE, DXS6984E	uc004ekj.1	Q00994	OTTHUMG00000022099	ENST00000372645.3:c.63C>T	X.37:g.102632482C>T		Somatic		Capture	SOLID	Phase_I	102519138	NM_206917	B2RD17|D3DXA3|Q5JQT4|Q5JQT5	Silent	SNP	ENST00000372645.3	37	CCDS14508.1																																																																																				0.498	NGFRAP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057709.1	NM_014380	
IRS4	8471	hgsc.bcm.edu	37	X	107976289	107976289	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chrX:107976289C>T	ENST00000372129.2	-	1	3362	c.3286G>A	c.(3286-3288)Gcc>Acc	p.A1096T	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1096	Ala-rich.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.A1096T(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GCGGCTCTGGCTGCTGCAAAG	0.572																																					p.A1096T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3286A	X						.						92.0	92.0	92.0					X																	107976289		2203	4300	6503	107862945	SO:0001583	missense	8471	exon1			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.3286G>A	X.37:g.107976289C>T	ENSP00000361202:p.Ala1096Thr	Somatic		Capture	SOLID	Phase_I	107862945	NM_003604		Missense_Mutation	SNP	ENST00000372129.2	37	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	C	9.835	1.189546	0.21954	.	.	ENSG00000133124	ENST00000372129	T	0.35605	1.3	5.55	-1.72	0.08107	.	1.242350	0.05404	N	0.541217	T	0.15609	0.0376	N	0.08118	0	0.09310	N	1	B	0.17465	0.022	B	0.12156	0.007	T	0.21211	-1.0252	10	0.07030	T	0.85	0.0045	5.9726	0.19361	0.2464:0.1787:0.0:0.5749	.	1096	O14654	IRS4_HUMAN	T	1096	ENSP00000361202:A1096T	ENSP00000361202:A1096T	A	-	1	0	IRS4	107862945	0.082000	0.21442	0.000000	0.03702	0.921000	0.55340	0.041000	0.13927	-0.836000	0.04229	-0.237000	0.12165	GCC		0.572	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604	
PAK3	5063	hgsc.bcm.edu	37	X	110406927	110406927	+	Missense_Mutation	SNP	G	G	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chrX:110406927G>T	ENST00000372010.1	+	11	1225	c.783G>T	c.(781-783)atG>atT	p.M261I	PAK3_ENST00000519681.1_Missense_Mutation_p.M267I|PAK3_ENST00000372007.5_Missense_Mutation_p.M246I|PAK3_ENST00000262836.4_Missense_Mutation_p.M261I|PAK3_ENST00000518291.1_Missense_Mutation_p.M282I|PAK3_ENST00000425146.1_Missense_Mutation_p.M246I|PAK3_ENST00000446737.1_Missense_Mutation_p.M246I|PAK3_ENST00000417227.1_Missense_Mutation_p.M267I|PAK3_ENST00000360648.4_Missense_Mutation_p.M282I			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	261	Linker.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.M246I(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AATCCAAGATGACAGATGAGG	0.403										TSP Lung(19;0.15)																											p.M246I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G738T	X						.						127.0	118.0	121.0					X																	110406927		2203	4299	6502	110293583	SO:0001583	missense	5063	exon8			AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.783G>T	X.37:g.110406927G>T	ENSP00000361080:p.Met261Ile	Somatic		Capture	SOLID	Phase_I	110293583	NM_001128166	A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Missense_Mutation	SNP	ENST00000372010.1	37	CCDS48153.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983339	0.53827	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000360648;ENST00000417227;ENST00000262836	T;T;T;T;T;T;T;T;T	0.71817	-0.57;-0.57;-0.58;-0.6;-0.57;-0.57;-0.57;-0.6;-0.58	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.71762	0.3378	L	0.61036	1.89	0.80722	D	1	B;B;B;B;B	0.26041	0.14;0.14;0.042;0.071;0.042	B;B;B;B;B	0.29077	0.098;0.098;0.033;0.073;0.033	T	0.70070	-0.4973	10	0.54805	T	0.06	.	18.3479	0.90328	0.0:0.0:1.0:0.0	.	267;282;261;246;261	O75914-4;O75914-3;O75914;O75914-2;B1GX77	.;.;PAK3_HUMAN;.;.	I	246;246;261;267;246;282;282;267;261	ENSP00000410853:M246I;ENSP00000401982:M246I;ENSP00000361080:M261I;ENSP00000429113:M267I;ENSP00000361077:M246I;ENSP00000428921:M282I;ENSP00000353864:M282I;ENSP00000389172:M267I;ENSP00000262836:M261I	ENSP00000262836:M261I	M	+	3	0	PAK3	110293583	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.500000	0.90498	2.372000	0.80975	0.594000	0.82650	ATG		0.403	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578	
AMOT	154796	hgsc.bcm.edu	37	X	112034009	112034009	+	Splice_Site	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chrX:112034009C>T	ENST00000524145.1	-	8	2002	c.1928G>A	c.(1927-1929)cGt>cAt	p.R643H	AMOT_ENST00000304758.1_Splice_Site_p.R234H|AMOT_ENST00000371958.1_Splice_Site_p.R411H|AMOT_ENST00000371962.1_Splice_Site_p.R411H|AMOT_ENST00000371959.3_Splice_Site_p.R643H			Q4VCS5	AMOT_HUMAN	angiomotin	643					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)	p.R643H(1)|p.R234H(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GTTGCCCTGACGCTGTTGGGG	0.527																																					p.R234H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G701A	X						.						88.0	77.0	81.0					X																	112034009		2203	4300	6503	111920665	SO:0001630	splice_region_variant	154796	exon8			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1927-1G>A	X.37:g.112034009C>T		Somatic		Capture	SOLID	Phase_I	111920665	NM_133265	Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	ENST00000524145.1	37	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.074599	0.76415	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	T;T;T;T;T	0.41400	1.0;2.02;2.28;2.02;1.73	6.08	6.08	0.98989	Angiomotin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65893	0.2735	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65508	-0.6151	10	0.52906	T	0.07	-10.6765	18.3623	0.90379	0.0:1.0:0.0:0.0	.	643	Q4VCS5	AMOT_HUMAN	H	234;643;411;643;411	ENSP00000305557:R234H;ENSP00000361027:R643H;ENSP00000361030:R411H;ENSP00000429013:R643H;ENSP00000361026:R411H	ENSP00000305557:R234H	R	-	2	0	AMOT	111920665	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	7.607000	0.82883	2.562000	0.86427	0.600000	0.82982	CGT		0.527	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265	Missense_Mutation
FRMPD4	9758	hgsc.bcm.edu	37	X	12725722	12725722	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chrX:12725722C>T	ENST00000380682.1	+	13	1928	c.1422C>T	c.(1420-1422)tcC>tcT	p.S474S		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	474	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.S474S(1)|p.S464S(1)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AAATGTTTTCCGAGGAGGAGA	0.498																																					p.S474S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1422T	X						.						139.0	115.0	123.0					X																	12725722		2203	4300	6503	12635643	SO:0001819	synonymous_variant	9758	exon13			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.1422C>T	X.37:g.12725722C>T		Somatic		Capture	SOLID	Phase_I	12635643	NM_014728	A8K0X9|O15032	Silent	SNP	ENST00000380682.1	37	CCDS35201.1																																																																																				0.498	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712	
DCAF12L1	139170	hgsc.bcm.edu	37	X	125686183	125686183	+	Missense_Mutation	SNP	G	G	A	rs377390890		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chrX:125686183G>A	ENST00000371126.1	-	1	651	c.409C>T	c.(409-411)Cgg>Tgg	p.R137W		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	137								p.R137W(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TCACTGTCCCGCAAGAGGGGA	0.627																																					p.R137W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C409T	X						.	G	TRP/ARG	1,3834		0,1,1631,571	102.0	84.0	90.0		409	-0.0	0.0	X		90	0,6728		0,0,2428,1872	no	missense	DCAF12L1	NM_178470.4	101	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	probably-damaging	137/464	125686183	1,10562	2203	4300	6503	125513864	SO:0001583	missense	139170	exon1			BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.409C>T	X.37:g.125686183G>A	ENSP00000360167:p.Arg137Trp	Somatic		Capture	SOLID	Phase_I	125513864	NM_178470	Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.485136	0.26598	2.61E-4	0.0	ENSG00000198889	ENST00000371126	T	0.35789	1.29	4.15	-0.0112	0.13993	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.38374	0.1038	M	0.64997	1.995	0.09310	N	1	D	0.71674	0.998	P	0.50791	0.65	T	0.27502	-1.0072	9	0.87932	D	0	.	2.9266	0.05786	0.1042:0.3223:0.406:0.1675	.	137	Q5VU92	DC121_HUMAN	W	137	ENSP00000360167:R137W	ENSP00000360167:R137W	R	-	1	2	DCAF12L1	125513864	0.919000	0.31177	0.000000	0.03702	0.005000	0.04900	1.446000	0.35090	-0.262000	0.09392	0.424000	0.28305	CGG		0.627	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470	
BCORL1	63035	hgsc.bcm.edu	37	X	129148900	129148900	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chrX:129148900G>A	ENST00000218147.7	+	4	2349	c.2152G>A	c.(2152-2154)Gtg>Atg	p.V718M	BCORL1_ENST00000540052.1_Missense_Mutation_p.V718M|BCORL1_ENST00000303743.5_Missense_Mutation_p.V718M|BCORL1_ENST00000359304.2_Missense_Mutation_p.V718M			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	718					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.V718M(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TGGCACCTACGTGGGAGTGGC	0.602																																					p.V718M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2152A	X						.						99.0	77.0	84.0					X																	129148900		2203	4300	6503	128976581	SO:0001583	missense	63035	exon3			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.2152G>A	X.37:g.129148900G>A	ENSP00000218147:p.Val718Met	Somatic		Capture	SOLID	Phase_I	128976581	NM_021946	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	CCDS14616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.82|17.82	3.482169|3.482169	0.63962|0.63962	.|.	.|.	ENSG00000085185|ENSG00000085185	ENST00000441294|ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	.|T;T;T;T;T	.|0.65916	.|-0.14;0.27;-0.18;-0.14;0.34	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	.|0.000000	.|0.33327	.|N	.|0.005021	T|T	0.71945|0.71945	0.3400|0.3400	L|L	0.32530|0.32530	0.975|0.975	0.58432|0.58432	D|D	0.999993|0.999993	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.997	T|T	0.74968|0.74968	-0.3483|-0.3483	5|10	.|0.62326	.|D	.|0.03	-12.8201|-12.8201	18.0781|18.0781	0.89433|0.89433	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|718;718	.|Q5H9F3-2;Q5H9F3	.|.;BCORL_HUMAN	H|M	153|718;718;718;718;318	.|ENSP00000218147:V718M;ENSP00000307541:V718M;ENSP00000352253:V718M;ENSP00000437775:V718M;ENSP00000399483:V318M	.|ENSP00000218147:V718M	R|V	+|+	2|1	0|0	BCORL1|BCORL1	128976581|128976581	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.946000|0.946000	0.59487|0.59487	8.674000|8.674000	0.91191|0.91191	2.205000|2.205000	0.71048|0.71048	0.436000|0.436000	0.28706|0.28706	CGT|GTG		0.602	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946	
IGSF1	3547	hgsc.bcm.edu	37	X	130408679	130408679	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chrX:130408679G>A	ENST00000361420.3	-	18	3724	c.3645C>T	c.(3643-3645)aaC>aaT	p.N1215N	IGSF1_ENST00000370904.1_Silent_p.N1206N|IGSF1_ENST00000370903.3_Silent_p.N1220N|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370910.1_Silent_p.N1206N			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1215	Ig-like C2-type 12.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)	p.N1215N(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TTCCTTCTACGTTGTTGATGA	0.527																																					p.N1206N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3618T	X						.						224.0	206.0	212.0					X																	130408679		2203	4300	6503	130236360	SO:0001819	synonymous_variant	3547	exon17			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3645C>T	X.37:g.130408679G>A		Somatic		Capture	SOLID	Phase_I	130236360	NM_001170962	B5MEG2|H9KV64|O15070|Q9NTC8	Silent	SNP	ENST00000361420.3	37	CCDS14629.1																																																																																				0.527	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1		
VGLL1	51442	hgsc.bcm.edu	37	X	135630782	135630782	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chrX:135630782G>A	ENST00000370634.3	+	3	419	c.249G>A	c.(247-249)tcG>tcA	p.S83S	MIR934_ENST00000401241.1_RNA	NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial-like family member 1	83					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.S83S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					GGCGTTACTCGTCTCCATGGA	0.438																																					p.S83S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G249A	X						.						204.0	180.0	188.0					X																	135630782		2203	4300	6503	135458448	SO:0001819	synonymous_variant	51442	exon3			AF137387	CCDS14658.1	Xq26.3	2014-03-03	2014-03-03		ENSG00000102243	ENSG00000102243			20985	protein-coding gene	gene with protein product		300583	"""vestigial like 1 (Drosophila)"""			10518497	Standard	NM_016267		Approved	TONDU, TDU	uc004ezy.3	Q99990	OTTHUMG00000022509	ENST00000370634.3:c.249G>A	X.37:g.135630782G>A		Somatic		Capture	SOLID	Phase_I	135458448	NM_016267	Q5H915	Silent	SNP	ENST00000370634.3	37	CCDS14658.1	.	.	.	.	.	.	.	.	.	.	g	0.644	-0.812239	0.02798	.	.	ENSG00000102243	ENST00000440515	.	.	.	5.35	1.14	0.20703	.	.	.	.	.	T	0.46983	0.1421	.	.	.	0.38640	D	0.951592	.	.	.	.	.	.	T	0.36359	-0.9751	4	.	.	.	-8.8156	5.2222	0.15375	0.0:0.1056:0.3399:0.5545	.	.	.	.	I	48	.	.	V	+	1	0	VGLL1	135458448	0.994000	0.37717	0.741000	0.31004	0.153000	0.21895	0.269000	0.18589	0.201000	0.20466	-0.317000	0.08691	GTC		0.438	VGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058493.1	NM_016267	
FMR1	2332	hgsc.bcm.edu	37	X	147024825	147024825	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chrX:147024825C>T	ENST00000370475.4	+	14	1578	c.1450C>T	c.(1450-1452)Cgc>Tgc	p.R484C	FMR1_ENST00000440235.2_Missense_Mutation_p.R131C|FMR1_ENST00000370471.3_Intron|FMR1_ENST00000218200.8_Missense_Mutation_p.R463C|FMR1_ENST00000492846.1_3'UTR|FMR1_ENST00000370470.1_Missense_Mutation_p.R484C|FMR1_ENST00000439526.2_Missense_Mutation_p.R461C|FMR1_ENST00000370477.1_Missense_Mutation_p.R463C	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	484	Interaction with RANBP9.				central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R484C(1)		NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					GCACGGCAGACGCGGTCCTGG	0.413									Fragile X syndrome																												p.R463C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1387T	X						.						133.0	123.0	126.0					X																	147024825		2203	4300	6503	146832517	SO:0001583	missense	2332	exon13	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"""premature ovarian failure 1"""	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.1450C>T	X.37:g.147024825C>T	ENSP00000359506:p.Arg484Cys	Somatic		Capture	SOLID	Phase_I	146832517	NM_001185082	A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	ENST00000370475.4	37	CCDS14682.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298001	0.60086	.	.	ENSG00000102081	ENST00000218200;ENST00000370477;ENST00000370475;ENST00000439526;ENST00000370470;ENST00000440235	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	5.54	5.54	0.83059	.	0.101743	0.64402	D	0.000002	T	0.57651	0.2068	L	0.52573	1.65	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;P	0.85130	0.997;0.959;0.991;0.923;0.862	T	0.59101	-0.7517	10	0.62326	D	0.03	-5.678	12.5165	0.56036	0.1663:0.8337:0.0:0.0	.	131;484;379;463;461	F8W871;Q06787;Q59GC1;Q06787-8;G3V0J0	.;FMR1_HUMAN;.;.;.	C	463;463;484;461;484;131	ENSP00000218200:R463C;ENSP00000359508:R463C;ENSP00000359506:R484C;ENSP00000395923:R461C;ENSP00000359501:R484C;ENSP00000413764:R131C	ENSP00000218200:R463C	R	+	1	0	FMR1	146832517	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.097000	0.57741	2.328000	0.79073	0.600000	0.82982	CGC		0.413	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024	
AFF2	2334	hgsc.bcm.edu	37	X	148059504	148059504	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chrX:148059504C>T	ENST00000370460.2	+	17	3925	c.3446C>T	c.(3445-3447)tCg>tTg	p.S1149L	AFF2_ENST00000342251.3_Missense_Mutation_p.S1116L|AFF2_ENST00000286437.5_Missense_Mutation_p.S790L|AFF2_ENST00000370457.5_Missense_Mutation_p.S1114L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1149					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.S1149L(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTTGGCTTCGGATGGGGAC	0.418																																					p.S1149L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3446T	X						.						153.0	142.0	145.0					X																	148059504		2203	4300	6503	147867188	SO:0001583	missense	2334	exon17			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3446C>T	X.37:g.148059504C>T	ENSP00000359489:p.Ser1149Leu	Somatic		Capture	SOLID	Phase_I	147867188	NM_002025	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837385	0.91117	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.99	5.99	0.97316	.	0.066863	0.56097	D	0.000032	T	0.73961	0.3654	L	0.55481	1.735	0.40693	D	0.982411	D;D;D;D;D;D	0.65815	0.985;0.995;0.99;0.981;0.981;0.985	P;P;P;B;B;P	0.61477	0.85;0.889;0.841;0.204;0.373;0.507	T	0.70568	-0.4836	10	0.31617	T	0.26	.	19.4045	0.94643	0.0:1.0:0.0:0.0	.	790;1114;1114;1110;1139;1149	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	L	1149;1114;1116;790	ENSP00000359489:S1149L;ENSP00000359486:S1114L;ENSP00000345459:S1116L;ENSP00000286437:S790L	ENSP00000286437:S790L	S	+	2	0	AFF2	147867188	1.000000	0.71417	0.952000	0.39060	0.936000	0.57629	4.550000	0.60733	2.536000	0.85505	0.600000	0.82982	TCG		0.418	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025	
GYG2	8908	hgsc.bcm.edu	37	X	2795258	2795258	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chrX:2795258C>T	ENST00000381163.3	+	11	1536	c.1254C>T	c.(1252-1254)gtC>gtT	p.V418V	GYG2_ENST00000398806.3_Silent_p.V387V|GYG2_ENST00000542787.1_Intron|GYG2_ENST00000338623.5_Intron|GYG2_ENST00000381161.1_Intron	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	418					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	glycogenin glucosyltransferase activity (GO:0008466)	p.V418V(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAAATAAAGTCGAAAGTGTCT	0.502													C|||	1	0.000264901	0.0	0.0	3775	,	,		12726	0.001		0.0	False		,,,				2504	0.0				p.V387V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1161T	X						.						90.0	77.0	81.0					X																	2795258		2203	4298	6501	2805258	SO:0001819	synonymous_variant	8908	exon10			U94361	CCDS14121.1, CCDS48074.1	Xp22.3	2013-02-22			ENSG00000056998	ENSG00000056998	2.4.1.186	"""Glycosyltransferase family 8 domain containing"""	4700	protein-coding gene	gene with protein product	"""glycogenin glucosyltransferase"""	300198				9857012	Standard	NM_001079855		Approved	GN-2	uc004cqs.1	O15488	OTTHUMG00000021079	ENST00000381163.3:c.1254C>T	X.37:g.2795258C>T		Somatic		Capture	SOLID	Phase_I	2805258	NM_001079855	B7WNN6|O15485|O15486|O15487|O15489|O15490	Silent	SNP	ENST00000381163.3	37	CCDS14121.1																																																																																				0.502	GYG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055645.1	NM_003918	
KAL1	3730	hgsc.bcm.edu	37	X	8504844	8504844	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chrX:8504844C>T	ENST00000262648.3	-	11	1738	c.1589G>A	c.(1588-1590)aGc>aAc	p.S530N	KAL1_ENST00000481896.1_5'UTR	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	530					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.S530N(1)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						AGGCTTGTGGCTCTTCCCCTT	0.502																																					p.S530N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1589A	X						.						82.0	63.0	69.0					X																	8504844		2203	4300	6503	8464844	SO:0001583	missense	3730	exon11				CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"""WAP four-disulfide core domain containing"", ""Fibronectin type III domain containing"""	6211	protein-coding gene	gene with protein product	"""anosmin-1"", ""WAP four-disulfide core domain 19"""	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.1589G>A	X.37:g.8504844C>T	ENSP00000262648:p.Ser530Asn	Somatic		Capture	SOLID	Phase_I	8464844	NM_000216	B2RPF8	Missense_Mutation	SNP	ENST00000262648.3	37	CCDS14130.1	.	.	.	.	.	.	.	.	.	.	C	4.096	0.015861	0.07959	.	.	ENSG00000011201	ENST00000262648	T	0.75260	-0.92	3.99	1.73	0.24493	.	0.297746	0.34959	N	0.003552	T	0.54431	0.1858	N	0.21142	0.635	0.20975	N	0.999818	B	0.13145	0.007	B	0.17722	0.019	T	0.36939	-0.9727	10	0.31617	T	0.26	-27.7244	5.5101	0.16876	0.0:0.2149:0.5892:0.1959	.	530	P23352	KALM_HUMAN	N	530	ENSP00000262648:S530N	ENSP00000262648:S530N	S	-	2	0	KAL1	8464844	0.650000	0.27331	0.008000	0.14137	0.287000	0.27160	-0.039000	0.12124	0.526000	0.28541	0.594000	0.82650	AGC		0.502	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1	NM_000216	
NHS	4810	hgsc.bcm.edu	37	X	17750144	17750144	+	Missense_Mutation	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chrX:17750144A>G	ENST00000380060.3	+	8	4791	c.4453A>G	c.(4453-4455)Aat>Gat	p.N1485D	NHS_ENST00000398097.3_Missense_Mutation_p.N1329D	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1506					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.N1485D(1)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CATATACCGAAATGCCAAAAA	0.498																																					p.N1329D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3985G	X						.						152.0	132.0	139.0					X																	17750144		2203	4300	6503	17660065	SO:0001583	missense	4810	exon9				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.4453A>G	X.37:g.17750144A>G	ENSP00000369400:p.Asn1485Asp	Somatic		Capture	SOLID	Phase_I	17660065	NM_001136024	B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.907277	0.92107	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.49432	0.78;0.79	5.88	5.88	0.94601	.	0.092726	0.85682	D	0.000000	T	0.62344	0.2420	L	0.56769	1.78	0.47065	D	0.999305	D;D;D;D	0.62365	0.972;0.972;0.972;0.991	P;P;P;P	0.61477	0.652;0.652;0.652;0.889	T	0.62483	-0.6845	10	0.45353	T	0.12	-23.3643	15.27	0.73693	1.0:0.0:0.0:0.0	.	1506;1327;1329;1485	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	D	1485;1329;1327	ENSP00000369400:N1485D;ENSP00000381170:N1329D	ENSP00000369397:N1327D	N	+	1	0	NHS	17660065	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	8.730000	0.91510	1.990000	0.58119	0.486000	0.48141	AAT		0.498	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270	
ZFX	7543	hgsc.bcm.edu	37	X	24190894	24190894	+	Missense_Mutation	SNP	C	C	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chrX:24190894C>A	ENST00000379177.1	+	5	462	c.35C>A	c.(34-36)cCa>cAa	p.P12Q	ZFX_ENST00000338565.3_Missense_Mutation_p.P12Q|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000540034.1_Missense_Mutation_p.P12Q|ZFX_ENST00000379188.3_Missense_Mutation_p.P12Q|ZFX_ENST00000539115.1_Intron|ZFX_ENST00000304543.5_Missense_Mutation_p.P12Q	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	12					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)	p.P12Q(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CAACAAGAGCCAAACTCATTT	0.378																																					p.P12Q	Esophageal Squamous(20;306 562 7346 32868 37983)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C35A	X						.						187.0	151.0	163.0					X																	24190894		2203	4300	6503	24100815	SO:0001583	missense	7543	exon2				CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.35C>A	X.37:g.24190894C>A	ENSP00000368475:p.Pro12Gln	Somatic		Capture	SOLID	Phase_I	24100815	NM_001178095	B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP	ENST00000379177.1	37	CCDS14211.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593414	0.66219	.	.	ENSG00000005889	ENST00000428571;ENST00000379188;ENST00000419690;ENST00000536464;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565	T;T;T;T;T	0.09073	3.17;3.17;3.17;3.09;3.02	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000001	T	0.12220	0.0297	L	0.36672	1.1	0.80722	D	1	P;B;P;B	0.48089	0.905;0.107;0.622;0.024	P;B;B;B	0.46076	0.503;0.067;0.33;0.008	T	0.00759	-1.1578	10	0.59425	D	0.04	-11.3955	17.3337	0.87274	0.0:1.0:0.0:0.0	.	12;12;12;16	B9EG97;F5H6Z8;P17010;Q59EB9	.;.;ZFX_HUMAN;.	Q	12	ENSP00000368486:P12Q;ENSP00000368475:P12Q;ENSP00000304985:P12Q;ENSP00000441382:P12Q;ENSP00000343384:P12Q	ENSP00000304985:P12Q	P	+	2	0	ZFX	24100815	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	4.911000	0.63328	2.562000	0.86427	0.600000	0.82982	CCA		0.378	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410	
MAGEB1	4112	hgsc.bcm.edu	37	X	30268902	30268902	+	Missense_Mutation	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chrX:30268902A>G	ENST00000378981.3	+	4	613	c.292A>G	c.(292-294)Aca>Gca	p.T98A	MAGEB1_ENST00000397550.1_Missense_Mutation_p.T98A|MAGEB1_ENST00000397548.2_Missense_Mutation_p.T98A	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	98								p.T98A(1)		NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CCAGGCCACAACATCCACTGA	0.493																																					p.T98A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A292G	X						.						56.0	40.0	46.0					X																	30268902		2202	4300	6502	30178823	SO:0001583	missense	4112	exon4				CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.292A>G	X.37:g.30268902A>G	ENSP00000368264:p.Thr98Ala	Somatic		Capture	SOLID	Phase_I	30178823	NM_002363	B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Missense_Mutation	SNP	ENST00000378981.3	37	CCDS14222.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.309658	0.00237	.	.	ENSG00000214107	ENST00000378981;ENST00000397550;ENST00000397548	T;T;T	0.01516	4.81;4.81;4.81	3.99	-7.97	0.01139	.	2.198480	0.02451	N	0.085572	T	0.01189	0.0039	L	0.28504	0.86	0.09310	N	1	B	0.17268	0.021	B	0.12156	0.007	T	0.49934	-0.8886	10	0.02654	T	1	.	2.6785	0.05087	0.1575:0.3614:0.3119:0.1691	.	98	P43366	MAGB1_HUMAN	A	98	ENSP00000368264:T98A;ENSP00000380683:T98A;ENSP00000380681:T98A	ENSP00000368264:T98A	T	+	1	0	MAGEB1	30178823	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-3.311000	0.00517	-4.767000	0.00033	-0.396000	0.06452	ACA		0.493	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	NM_002363	
DMD	1756	hgsc.bcm.edu	37	X	31152241	31152241	+	Missense_Mutation	SNP	G	G	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chrX:31152241G>T	ENST00000357033.4	-	77	11198	c.10992C>A	c.(10990-10992)aaC>aaA	p.N3664K	DMD_ENST00000378723.3_Missense_Mutation_p.N596K|DMD_ENST00000378707.3_Missense_Mutation_p.N1204K|DMD_ENST00000378677.2_Missense_Mutation_p.N3660K|DMD_ENST00000541735.1_Missense_Mutation_p.N1094K|DMD_ENST00000378702.4_Missense_Mutation_p.N596K|DMD_ENST00000378680.2_Missense_Mutation_p.N486K|DMD_ENST00000343523.2_Missense_Mutation_p.N1094K|DMD_ENST00000474231.1_Missense_Mutation_p.N1204K|DMD_ENST00000361471.4_Missense_Mutation_p.N583K|DMD_ENST00000359836.1_Missense_Mutation_p.N1191K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3664					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.N1204K(1)|p.N3659K(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GGAAGGAGTTGTTGAGTTGCT	0.468																																					p.N596K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1788A	X						.						215.0	133.0	161.0					X																	31152241		2202	4300	6502	31062162	SO:0001583	missense	1756	exon16			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.10992C>A	X.37:g.31152241G>T	ENSP00000354923:p.Asn3664Lys	Somatic		Capture	SOLID	Phase_I	31062162	NM_004015	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.3|21.3	4.123477|4.123477	0.77436|0.77436	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000378702;ENST00000474231;ENST00000361471;ENST00000378680|ENST00000465285	T;T;T;T;T;T;T;T;T;T;T;T|.	0.61742|.	2.26;3.92;0.08;0.08;3.86;3.84;3.96;3.83;2.31;3.94;2.22;2.21|.	5.04|5.04	4.17|4.17	0.49024|0.49024	.|.	0.000000|.	0.40222|.	U|.	0.001142|.	T|T	0.63129|0.63129	0.2485|0.2485	L|L	0.54323|0.54323	1.7|1.7	0.58432|0.58432	D|D	0.999991|0.999991	D;B;D;D;D;D;B;P;P;D;D;P;B;B;B;B|.	0.67145|.	0.993;0.257;0.996;0.993;0.988;0.988;0.203;0.745;0.621;0.981;0.989;0.953;0.288;0.056;0.005;0.084|.	P;B;P;D;P;P;B;B;B;D;D;P;B;B;B;B|.	0.72982|.	0.708;0.324;0.874;0.979;0.824;0.824;0.157;0.42;0.132;0.932;0.969;0.814;0.117;0.057;0.014;0.034|.	T|T	0.60796|0.60796	-0.7192|-0.7192	10|5	0.07990|.	T|.	0.79|.	.|.	13.3818|13.3818	0.60770|0.60770	0.0822:0.0:0.9177:0.0|0.0822:0.0:0.9177:0.0	.|.	486;3656;3664;3660;2323;2320;1191;1204;1204;1094;1094;3541;583;596;583;596|.	B4DSV7;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3;P11532-5;Q8N754;Q6NSJ9;E9PDN1|.	.;.;DMD_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.|.	K|K	3656;2323;2320;596;1347;3660;3664;1191;1094;3664;3541;1204;1094;596;1204;583;486|1393	ENSP00000367997:N596K;ENSP00000350765:N1347K;ENSP00000367948:N3660K;ENSP00000354923:N3664K;ENSP00000352894:N1191K;ENSP00000340057:N1094K;ENSP00000367979:N1204K;ENSP00000444119:N1094K;ENSP00000367974:N596K;ENSP00000417123:N1204K;ENSP00000354464:N583K;ENSP00000367951:N486K|.	ENSP00000340057:N1094K|.	N|Q	-|-	3|1	2|0	DMD|DMD	31062162|31062162	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.149000|3.149000	0.50655|0.50655	2.470000|2.470000	0.83445|0.83445	0.600000|0.600000	0.82982|0.82982	AAC|CAA		0.468	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
MID1IP1	58526	hgsc.bcm.edu	37	X	38664220	38664220	+	Silent	SNP	C	C	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chrX:38664220C>A	ENST00000336949.6	+	2	966	c.21C>A	c.(19-21)acC>acA	p.T7T	MID1IP1_ENST00000457894.1_Silent_p.T7T|MID1IP1-AS1_ENST00000436893.1_RNA|MID1IP1_ENST00000378474.3_Silent_p.T7T	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN	MID1 interacting protein 1	7					lipid metabolic process (GO:0006629)|negative regulation of microtubule depolymerization (GO:0007026)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of ligase activity (GO:0051351)|protein polymerization (GO:0051258)|regulation of lipid biosynthetic process (GO:0046890)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)		p.T7T(1)		kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						TCTGCGACACCTACAACCAGA	0.627																																					p.T7T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C21A	X						.						114.0	78.0	90.0					X																	38664220		2202	4300	6502	38549164	SO:0001819	synonymous_variant	58526	exon2				CCDS14249.1	Xp11.4	2012-02-23	2012-02-23		ENSG00000165175	ENSG00000165175			20715	protein-coding gene	gene with protein product	"""gastrulation specific G12 homolog (zebrafish)"""		"""MID1 interacting protein 1 (gastrulation specific G12-like (zebrafish))"""				Standard	NM_001098790		Approved	STRAIT11499, FLJ10386, MIG12, THRSPL, G12-like	uc010ngz.3	Q9NPA3	OTTHUMG00000024092	ENST00000336949.6:c.21C>A	X.37:g.38664220C>A		Somatic		Capture	SOLID	Phase_I	38549164	NM_001098791	D3DWB2	Silent	SNP	ENST00000336949.6	37	CCDS14249.1																																																																																				0.627	MID1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060655.1		
HDAC6	10013	hgsc.bcm.edu	37	X	48661609	48661609	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chrX:48661609C>T	ENST00000334136.5	+	4	475	c.297C>T	c.(295-297)tgC>tgT	p.C99C	HDAC6_ENST00000469223.1_3'UTR|HDAC6_ENST00000376619.2_Silent_p.C99C|HDAC6_ENST00000413163.2_Silent_p.C44C|HDAC6_ENST00000444343.2_Silent_p.C113C			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	99	Histone deacetylase 1.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|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)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)	p.C99C(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	AATTCCATTGCCTCTGGGATG	0.468																																					p.C99C	Pancreas(112;205 1675 2305 8976 15959)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C297T	X						.						84.0	64.0	71.0					X																	48661609		2203	4300	6503	48546553	SO:0001819	synonymous_variant	10013	exon4			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.297C>T	X.37:g.48661609C>T		Somatic		Capture	SOLID	Phase_I	48546553	NM_006044	O94975|Q6NT75|Q7L3E5|Q96CY0	Silent	SNP	ENST00000334136.5	37	CCDS14306.1																																																																																				0.468	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044	
CACNA1F	778	hgsc.bcm.edu	37	X	49079018	49079018	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chrX:49079018C>T	ENST00000376265.2	-	17	2345	c.2284G>A	c.(2284-2286)Gcc>Acc	p.A762T	CACNA1F_ENST00000376251.1_Missense_Mutation_p.A697T|CACNA1F_ENST00000480889.1_5'UTR|CACNA1F_ENST00000323022.5_Missense_Mutation_p.A751T	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	762					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.A762T(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TCTCCACTGGCCAGGTTGTCC	0.567																																					p.A762T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2284A	X						.						129.0	77.0	95.0					X																	49079018		2203	4300	6503	48965962	SO:0001583	missense	778	exon17			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.2284G>A	X.37:g.49079018C>T	ENSP00000365441:p.Ala762Thr	Somatic		Capture	SOLID	Phase_I	48965962	NM_005183	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	.	19.94	3.919691	0.73098	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.97430	-4.14;-4.38;-4.38	4.28	4.28	0.50868	.	0.000000	0.56097	D	0.000025	D	0.98188	0.9401	M	0.78049	2.395	0.46542	D	0.999093	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	D	0.99323	1.0907	10	0.87932	D	0	.	14.8954	0.70642	0.0:1.0:0.0:0.0	.	751;762	F5CIQ9;O60840	.;CAC1F_HUMAN	T	697;751;762	ENSP00000365427:A697T;ENSP00000321618:A751T;ENSP00000365441:A762T	ENSP00000321618:A751T	A	-	1	0	CACNA1F	48965962	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.924000	0.70054	1.743000	0.51761	0.411000	0.27672	GCC		0.567	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183	
PPP1R3F	89801	hgsc.bcm.edu	37	X	49143042	49143042	+	Silent	SNP	G	G	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chrX:49143042G>T	ENST00000055335.6	+	4	1906	c.1890G>T	c.(1888-1890)gtG>gtT	p.V630V	PPP1R3F_ENST00000438316.1_Silent_p.V301V|PPP1R3F_ENST00000376188.1_Silent_p.V284V|PPP1R3F_ENST00000495799.1_Silent_p.V284V|PPP1R3F_ENST00000466508.1_Silent_p.V284V	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	630					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)	p.V630V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					ACGGCCCTGTGGTTCTGGGTA	0.577																																					p.V630V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1890T	X						.						50.0	37.0	41.0					X																	49143042		2203	4299	6502	49029986	SO:0001819	synonymous_variant	89801	exon4				CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14944	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3F"""			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.1890G>T	X.37:g.49143042G>T		Somatic		Capture	SOLID	Phase_I	49029986	NM_033215	A2VDJ8|B3KPW2|E9PCM3	Silent	SNP	ENST00000055335.6	37	CCDS35254.1																																																																																				0.577	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215	
CCNB3	85417	hgsc.bcm.edu	37	X	50051684	50051684	+	Missense_Mutation	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chrX:50051684T>C	ENST00000376042.1	+	6	813	c.515T>C	c.(514-516)aTc>aCc	p.I172T	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.I172T|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	172					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)		p.I172T(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GAAACCCTTATCAATAAGTCA	0.438																																					p.I172T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T515C	X						.						93.0	83.0	87.0					X																	50051684		2203	4300	6503	50068424	SO:0001583	missense	85417	exon5			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.515T>C	X.37:g.50051684T>C	ENSP00000365210:p.Ile172Thr	Somatic		Capture	SOLID	Phase_I	50068424	NM_033031	B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	T	9.793	1.178345	0.21787	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.26660	1.72;1.72	3.76	1.19	0.21007	.	.	.	.	.	T	0.18509	0.0444	L	0.40543	1.245	0.09310	N	1	P	0.47409	0.895	B	0.41332	0.354	T	0.11251	-1.0595	8	.	.	.	.	5.7052	0.17905	0.4503:0.0:0.0:0.5497	.	172	Q8WWL7	CCNB3_HUMAN	T	172	ENSP00000365210:I172T;ENSP00000276014:I172T	.	I	+	2	0	CCNB3	50068424	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.362000	0.07602	0.120000	0.18254	0.481000	0.45027	ATC		0.438	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1		
BMP15	9210	hgsc.bcm.edu	37	X	50659038	50659038	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chrX:50659038C>T	ENST00000252677.3	+	2	610	c.610C>T	c.(610-612)Cga>Tga	p.R204*		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	204					female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)		p.R204*(2)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					CAGGATCCTACGACTCCGTTT	0.438																																					p.R204X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|lung(1)	c.C610T	X						.						143.0	114.0	124.0					X																	50659038		2203	4299	6502	50675778	SO:0001587	stop_gained	9210	exon2			AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"""Bone morphogenetic proteins"""	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.610C>T	X.37:g.50659038C>T	ENSP00000252677:p.Arg204*	Somatic		Capture	SOLID	Phase_I	50675778	NM_005448	Q17RM6|Q5JST1|Q9UMS1	Nonsense_Mutation	SNP	ENST00000252677.3	37	CCDS14334.1	.	.	.	.	.	.	.	.	.	.	c	10.74	1.435110	0.25813	.	.	ENSG00000130385	ENST00000252677	.	.	.	5.52	3.72	0.42706	.	0.992853	0.08201	N	0.982285	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	3.8331	0.08882	0.2037:0.6096:0.0:0.1867	.	.	.	.	X	204	.	ENSP00000252677:R204X	R	+	1	2	BMP15	50675778	0.000000	0.05858	0.029000	0.17559	0.009000	0.06853	0.433000	0.21477	1.082000	0.41137	0.556000	0.70494	CGA		0.438	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056572.1	NM_005448	
KDM5C	8242	hgsc.bcm.edu	37	X	53226051	53226051	+	Missense_Mutation	SNP	T	T	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chrX:53226051T>G	ENST00000375401.3	-	19	3330	c.2798A>C	c.(2797-2799)gAg>gCg	p.E933A	KDM5C_ENST00000375383.3_Missense_Mutation_p.E892A|KDM5C_ENST00000452825.3_Missense_Mutation_p.E866A|KDM5C_ENST00000404049.3_Missense_Mutation_p.E932A|KDM5C_ENST00000375379.3_Missense_Mutation_p.E933A	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	933					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.E933A(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GCGTTTCACCTCATCCAGCCA	0.672			"""N, F, S"""		clear cell renal carcinoma																																p.E933A			Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2798C	X						.						39.0	35.0	37.0					X																	53226051		2197	4299	6496	53242776	SO:0001583	missense	8242	exon19			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.2798A>C	X.37:g.53226051T>G	ENSP00000364550:p.Glu933Ala	Somatic		Capture	SOLID	Phase_I	53242776	NM_004187	B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	T	16.61	3.170489	0.57584	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	4.51	4.51	0.55191	Lysine-specific demethylase-like domain (1);	0.123967	0.52532	U	0.000063	T	0.44932	0.1317	L	0.58583	1.82	0.36643	D	0.87695	P;P;P	0.45283	0.855;0.772;0.772	P;B;B	0.44772	0.46;0.345;0.345	T	0.55528	-0.8127	10	0.52906	T	0.07	-13.0985	6.1976	0.20557	0.0:0.116:0.0:0.884	.	866;932;933	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	A	866;933;932;933;892	ENSP00000445176:E866A;ENSP00000364550:E933A;ENSP00000385394:E932A;ENSP00000364528:E933A;ENSP00000364532:E892A	ENSP00000364528:E933A	E	-	2	0	KDM5C	53242776	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.244000	0.72391	1.495000	0.48549	0.478000	0.44815	GAG		0.672	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187	
HUWE1	10075	hgsc.bcm.edu	37	X	53631607	53631607	+	Silent	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chrX:53631607T>C	ENST00000342160.3	-	25	3142	c.2685A>G	c.(2683-2685)gcA>gcG	p.A895A	HUWE1_ENST00000218328.8_Silent_p.A895A|HUWE1_ENST00000262854.6_Silent_p.A895A			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	895					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.A895A(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CAGCAGTGAGTGCATGCAGCA	0.493																																					p.A895A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2685G	X						.						83.0	66.0	72.0					X																	53631607		2203	4300	6503	53648332	SO:0001819	synonymous_variant	10075	exon26			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.2685A>G	X.37:g.53631607T>C		Somatic		Capture	SOLID	Phase_I	53648332	NM_031407	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	CCDS35301.1																																																																																				0.493	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	
MTMR8	55613	hgsc.bcm.edu	37	X	63615229	63615229	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chrX:63615229C>T	ENST00000374852.3	-	1	82	c.15G>A	c.(13-15)acG>acA	p.T5T	MTMR8_ENST00000453546.1_Silent_p.T5T	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	5						nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.T5T(2)|p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CCTTGGGTACCGTAATATGAT	0.602																																					p.T5T												.	.	3	Substitution - coding silent(2)|Whole gene deletion(1)	large_intestine(2)|ovary(1)	c.G15A	X						.						122.0	99.0	107.0					X																	63615229		2203	4300	6503	63531954	SO:0001819	synonymous_variant	55613	exon1			AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.15G>A	X.37:g.63615229C>T		Somatic		Capture	SOLID	Phase_I	63531954	NM_017677	Q5JT99|Q9NXP6	Silent	SNP	ENST00000374852.3	37	CCDS14379.1																																																																																				0.602	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677	
LAS1L	81887	hgsc.bcm.edu	37	X	64744106	64744106	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chrX:64744106G>A	ENST00000374811.3	-	10	1170	c.1130C>T	c.(1129-1131)cCg>cTg	p.P377L	LAS1L_ENST00000374807.5_Missense_Mutation_p.P360L|LAS1L_ENST00000374804.5_Missense_Mutation_p.P318L|LAS1L_ENST00000312391.8_3'UTR	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	377					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.P377L(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						CTGAGAGAACGGCTTTGGCAC	0.572																																					p.P377L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1130T	X						.						35.0	33.0	33.0					X																	64744106		2203	4300	6503	64660831	SO:0001583	missense	81887	exon10			BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.1130C>T	X.37:g.64744106G>A	ENSP00000363944:p.Pro377Leu	Somatic		Capture	SOLID	Phase_I	64660831	NM_031206	A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Missense_Mutation	SNP	ENST00000374811.3	37	CCDS14381.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.953794	0.53293	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804	.	.	.	4.89	4.89	0.63831	.	0.781342	0.11932	N	0.515618	T	0.44664	0.1304	L	0.47716	1.5	0.80722	D	1	P;B;B	0.43287	0.802;0.004;0.033	B;B;B	0.35312	0.2;0.002;0.008	T	0.41574	-0.9501	9	0.40728	T	0.16	.	12.6228	0.56614	0.0:0.0:1.0:0.0	.	318;360;377	Q9Y4W2-3;Q9Y4W2-2;Q9Y4W2	.;.;LAS1L_HUMAN	L	360;377;318	.	ENSP00000363937:P318L	P	-	2	0	LAS1L	64660831	0.983000	0.35010	0.873000	0.34254	0.983000	0.72400	2.039000	0.41193	2.030000	0.59900	0.431000	0.28591	CCG		0.572	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056974.1	NM_031206	
FAM155B	27112	hgsc.bcm.edu	37	X	68725722	68725722	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chrX:68725722C>T	ENST00000252338.4	+	1	639	c.597C>T	c.(595-597)tgC>tgT	p.C199C	AL158069.1_ENST00000579664.1_RNA	NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	199						integral component of membrane (GO:0016021)		p.C199C(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						TCTCCTTTTGCGACACCTACA	0.627																																					p.C199C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C597T	X						.						56.0	53.0	54.0					X																	68725722		2202	4300	6502	68642447	SO:0001819	synonymous_variant	27112	exon1			AF087142	CCDS35317.1	Xq13.1	2008-04-15	2008-04-15	2008-04-15	ENSG00000130054	ENSG00000130054			30701	protein-coding gene	gene with protein product			"""transmembrane protein 28"", ""chromosome X open reading frame 63"""	TMEM28, CXorf63			Standard	NM_015686		Approved	TED	uc004dxk.3	O75949	OTTHUMG00000021756	ENST00000252338.4:c.597C>T	X.37:g.68725722C>T		Somatic		Capture	SOLID	Phase_I	68642447	NM_015686	B1ALV6|B9EGK1|D3DVU1	Silent	SNP	ENST00000252338.4	37	CCDS35317.1																																																																																				0.627	FAM155B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057037.1	NM_015686	
ATRX	546	hgsc.bcm.edu	37	X	76937103	76937103	+	Silent	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chrX:76937103A>G	ENST00000373344.5	-	9	3859	c.3645T>C	c.(3643-3645)tcT>tcC	p.S1215S	ATRX_ENST00000395603.3_Silent_p.S1177S|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1215	Interaction with DAXX.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.S1215S(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CCTCACCTATAGAATTCTGAT	0.383			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																														p.S1215S			Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	.	.	2	Unknown(1)|Substitution - coding silent(1)	large_intestine(1)|bone(1)	c.T3645C	X						.						150.0	128.0	135.0					X																	76937103		2203	4296	6499	76823759	SO:0001819	synonymous_variant	546	exon9			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3645T>C	X.37:g.76937103A>G		Somatic		Capture	SOLID	Phase_I	76823759	NM_000489	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	ENST00000373344.5	37	CCDS14434.1																																																																																				0.383	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	
SYTL4	94121	hgsc.bcm.edu	37	X	99943432	99943432	+	Silent	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chrX:99943432T>C	ENST00000372989.1	-	12	1252	c.921A>G	c.(919-921)gaA>gaG	p.E307E	SYTL4_ENST00000276141.6_Silent_p.E307E|SYTL4_ENST00000372981.1_Silent_p.E307E|SYTL4_ENST00000454200.2_Silent_p.E309E|SYTL4_ENST00000455616.1_Silent_p.E307E|SYTL4_ENST00000263033.5_Silent_p.E307E	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	307	Poly-Glu.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.E307E(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	cttcttcttcttcctcttcCT	0.373																																					p.E307E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A921G	X						.						108.0	78.0	88.0					X																	99943432		2203	4300	6503	99830088	SO:0001819	synonymous_variant	94121	exon11				CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"""granuphilin-a"", ""exophilin-2"""	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.921A>G	X.37:g.99943432T>C		Somatic		Capture	SOLID	Phase_I	99830088	NM_001129896	Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Silent	SNP	ENST00000372989.1	37	CCDS14472.1																																																																																				0.373	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737	
MTMR1	8776	hgsc.bcm.edu	37	X	149924192	149924192	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chrX:149924192C>T	ENST00000370390.3	+	14	1845	c.1688C>T	c.(1687-1689)tCg>tTg	p.S563L	MTMR1_ENST00000445323.2_Missense_Mutation_p.S571L|MTMR1_ENST00000541925.1_Missense_Mutation_p.S469L|MTMR1_ENST00000538506.1_3'UTR|MTMR1_ENST00000544228.1_Missense_Mutation_p.S563L	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	563	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)	p.S563L(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTTATGGTCGTATATCAAT	0.328																																					p.S563L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1688T	X						.						130.0	115.0	120.0					X																	149924192		2203	4300	6503	149674850	SO:0001583	missense	8776	exon14			U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.1688C>T	X.37:g.149924192C>T	ENSP00000359417:p.Ser563Leu	Somatic		Capture	SOLID	Phase_I	149674850	NM_003828	A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Missense_Mutation	SNP	ENST00000370390.3	37	CCDS14695.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.984010	0.93044	.	.	ENSG00000063601	ENST00000541925;ENST00000370390;ENST00000445323;ENST00000544228	D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83	5.51	5.51	0.81932	Myotubularin phosphatase domain (1);	0.049109	0.85682	D	0.000000	D	0.96694	0.8921	M	0.93939	3.475	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.76071	0.987;0.836	D	0.97599	1.0122	10	0.72032	D	0.01	.	18.4259	0.90608	0.0:1.0:0.0:0.0	.	563;571	Q13613;F8WA39	MTMR1_HUMAN;.	L	469;563;571;563	ENSP00000441879:S469L;ENSP00000359417:S563L;ENSP00000414178:S571L;ENSP00000440534:S563L	ENSP00000359417:S563L	S	+	2	0	MTMR1	149674850	1.000000	0.71417	0.958000	0.39756	0.904000	0.53231	7.487000	0.81328	2.292000	0.77174	0.600000	0.82982	TCG		0.328	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789	
CHST10	9486	hgsc.bcm.edu	37	2	101012006	101012006	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:101012006C>T	ENST00000264249.3	-	6	883	c.498G>A	c.(496-498)cgG>cgA	p.R166R	CHST10_ENST00000542617.1_Silent_p.R214R|CHST10_ENST00000409701.1_Silent_p.R166R	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	166					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)	p.R166R(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						AGGAAGAGAGCCGAGGAAGGC	0.498																																					p.R166R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G498A	2						.						99.0	92.0	95.0					2																	101012006		2203	4300	6503	100378438	SO:0001819	synonymous_variant	9486	exon6			BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"""Sulfotransferases, membrane-bound"""	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.498G>A	2.37:g.101012006C>T		Somatic		Capture	SOLID	Phase_I	100378438	NM_004854	Q53T18	Silent	SNP	ENST00000264249.3	37	CCDS2047.1																																																																																				0.498	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253162.1	NM_004854	
MFSD9	84804	hgsc.bcm.edu	37	2	103335355	103335355	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:103335355G>A	ENST00000258436.5	-	6	992	c.949C>T	c.(949-951)Cgg>Tgg	p.R317W	MFSD9_ENST00000496253.1_5'Flank	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	317					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.R317W(2)		breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						ACCTTGGGCCGCACCCCAAAG	0.587																																					p.R317W												.	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.C949T	2						.						45.0	44.0	45.0					2																	103335355		2203	4300	6503	102701787	SO:0001583	missense	84804	exon6				CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.949C>T	2.37:g.103335355G>A	ENSP00000258436:p.Arg317Trp	Somatic		Capture	SOLID	Phase_I	102701787	NM_032718	Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Missense_Mutation	SNP	ENST00000258436.5	37	CCDS2063.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.782346	0.49891	.	.	ENSG00000135953	ENST00000258436	T	0.80909	-1.43	5.0	-5.83	0.02325	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.252691	0.37483	N	0.002070	T	0.69967	0.3170	L	0.51422	1.61	0.28379	N	0.919641	B	0.27791	0.189	B	0.23852	0.049	T	0.60234	-0.7303	10	0.66056	D	0.02	-26.6188	13.5421	0.61681	0.0:0.0809:0.1549:0.7642	.	317	Q8NBP5	MFSD9_HUMAN	W	317	ENSP00000258436:R317W	ENSP00000258436:R317W	R	-	1	2	MFSD9	102701787	1.000000	0.71417	0.008000	0.14137	0.855000	0.48748	1.362000	0.34148	-0.728000	0.04882	-0.195000	0.12781	CGG		0.587	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253295.2	NM_032718	
DPP10	57628	hgsc.bcm.edu	37	2	116503697	116503697	+	Silent	SNP	T	T	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:116503697T>G	ENST00000410059.1	+	10	1368	c.888T>G	c.(886-888)gtT>gtG	p.V296V	DPP10_ENST00000310323.8_Silent_p.V289V|DPP10_ENST00000409163.1_Silent_p.V246V|DPP10_ENST00000393147.2_Silent_p.V300V	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	296						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.V289V(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AATTATATGTTGTAAACCTGT	0.338																																					p.V246V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T738G	2						.						94.0	89.0	91.0					2																	116503697		2203	4300	6503	116220167	SO:0001819	synonymous_variant	57628	exon11			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.888T>G	2.37:g.116503697T>G		Somatic		Capture	SOLID	Phase_I	116220167	NM_001178036	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Silent	SNP	ENST00000410059.1	37	CCDS46400.1																																																																																				0.338	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868	
TFCP2L1	29842	hgsc.bcm.edu	37	2	121997211	121997211	+	Silent	SNP	G	G	A	rs369288918		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:121997211G>A	ENST00000263707.5	-	8	880	c.783C>T	c.(781-783)ccC>ccT	p.P261P		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	261					cell morphogenesis (GO:0000902)|cytoplasm organization (GO:0007028)|determination of adult lifespan (GO:0008340)|epithelial cell maturation (GO:0002070)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of growth (GO:0045927)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|salivary gland development (GO:0007431)|steroid biosynthetic process (GO:0006694)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.P261P(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					AGGCCACGTCGGGCCATGGAG	0.627																																					p.P261P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C783T	2						.						99.0	89.0	93.0					2																	121997211		2203	4300	6503	121713681	SO:0001819	synonymous_variant	29842	exon8			AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112			17925	protein-coding gene	gene with protein product		609785				10644752, 11073954	Standard	NM_014553		Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.783C>T	2.37:g.121997211G>A		Somatic		Capture	SOLID	Phase_I	121713681	NM_014553	Q4ZG43	Silent	SNP	ENST00000263707.5	37	CCDS2134.1																																																																																				0.627	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338539.1	NM_014553	
TFCP2L1	29842	hgsc.bcm.edu	37	2	122004502	122004502	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:122004502G>A	ENST00000263707.5	-	6	646	c.549C>T	c.(547-549)ggC>ggT	p.G183G		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	183					cell morphogenesis (GO:0000902)|cytoplasm organization (GO:0007028)|determination of adult lifespan (GO:0008340)|epithelial cell maturation (GO:0002070)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of growth (GO:0045927)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|salivary gland development (GO:0007431)|steroid biosynthetic process (GO:0006694)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.G183G(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					CTCCCTTCTCGCCCCCGTGCT	0.592																																					p.G183G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C549T	2						.						126.0	105.0	112.0					2																	122004502		2203	4300	6503	121720972	SO:0001819	synonymous_variant	29842	exon6			AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112			17925	protein-coding gene	gene with protein product		609785				10644752, 11073954	Standard	NM_014553		Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.549C>T	2.37:g.122004502G>A		Somatic		Capture	SOLID	Phase_I	121720972	NM_014553	Q4ZG43	Silent	SNP	ENST00000263707.5	37	CCDS2134.1																																																																																				0.592	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338539.1	NM_014553	
BIN1	274	hgsc.bcm.edu	37	2	127811493	127811493	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:127811493C>T	ENST00000316724.5	-	13	1638	c.1227G>A	c.(1225-1227)acG>acA	p.T409T	BIN1_ENST00000376113.2_Intron|BIN1_ENST00000259238.4_Intron|BIN1_ENST00000346226.3_Intron|BIN1_ENST00000352848.3_Intron|BIN1_ENST00000393041.3_Intron|BIN1_ENST00000393040.3_Intron|BIN1_ENST00000357970.3_Silent_p.T366T|BIN1_ENST00000466111.1_Intron|BIN1_ENST00000348750.4_Intron|BIN1_ENST00000351659.3_Intron|BIN1_ENST00000409400.1_Intron	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	409	Clathrin-binding.				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)	p.T409T(1)		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)		GACCAGAGGGCGTGGGTGCCT	0.657																																					p.T409T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1227A	2						.						21.0	20.0	20.0					2																	127811493		2109	4118	6227	127527963	SO:0001819	synonymous_variant	274	exon13			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.1227G>A	2.37:g.127811493C>T		Somatic		Capture	SOLID	Phase_I	127527963	NM_139343	O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Silent	SNP	ENST00000316724.5	37	CCDS2138.1																																																																																				0.657	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254298.2	NM_139343	
DDX1	1653	hgsc.bcm.edu	37	2	15747341	15747341	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:15747341C>T	ENST00000381341.2	+	14	1249	c.860C>T	c.(859-861)cCg>cTg	p.P287L	DDX1_ENST00000233084.3_Missense_Mutation_p.P287L			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	287	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Necessary for interaction with HNRNPK.|Necessary for interaction with RELA.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)	p.P287L(1)|p.T280_P287delTKFLPNAP(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		CCCAATGCTCCGAAAGCTCTC	0.358																																					p.P287L												.	.	2	Substitution - Missense(1)|Deletion - In frame(1)	large_intestine(1)|autonomic_ganglia(1)	c.C860T	2						.						122.0	119.0	120.0					2																	15747341		2203	4300	6503	15664792	SO:0001583	missense	1653	exon13			X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"""DEAD-boxes"""	2734	protein-coding gene	gene with protein product		601257	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"""			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.860C>T	2.37:g.15747341C>T	ENSP00000370745:p.Pro287Leu	Somatic		Capture	SOLID	Phase_I	15664792	NM_004939	B4DME8|B4DPN6	Missense_Mutation	SNP	ENST00000381341.2	37	CCDS1686.1	.	.	.	.	.	.	.	.	.	.	C	34	5.322528	0.95708	.	.	ENSG00000079785	ENST00000381341;ENST00000233084;ENST00000543614	T;T	0.04603	3.59;3.59	5.56	5.56	0.83823	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.049374	0.85682	D	0.000000	T	0.18257	0.0438	L	0.52126	1.63	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.00122	-1.2027	10	0.45353	T	0.12	-10.4681	19.5351	0.95247	0.0:1.0:0.0:0.0	.	287	Q92499	DDX1_HUMAN	L	287;287;271	ENSP00000370745:P287L;ENSP00000233084:P287L	ENSP00000233084:P287L	P	+	2	0	DDX1	15664792	1.000000	0.71417	0.975000	0.42487	0.988000	0.76386	7.694000	0.84235	2.640000	0.89533	0.655000	0.94253	CCG		0.358	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207141.2	NM_004939	
SAP130	79595	hgsc.bcm.edu	37	2	128772431	128772431	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:128772431G>A	ENST00000259235.3	-	5	772	c.643C>T	c.(643-645)Cgc>Tgc	p.R215C	SAP130_ENST00000357702.5_Missense_Mutation_p.R215C|SAP130_ENST00000259234.6_Missense_Mutation_p.R189C	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	215					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)	p.R215C(1)		NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		GCATTGCTGCGGATGATAGAC	0.428																																					p.R215C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C643T	2						.						129.0	114.0	119.0					2																	128772431		2203	4300	6503	128488901	SO:0001583	missense	79595	exon5			BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.643C>T	2.37:g.128772431G>A	ENSP00000259235:p.Arg215Cys	Somatic		Capture	SOLID	Phase_I	128488901	NM_001145928	B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	ENST00000259235.3	37	CCDS2153.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.499293	0.64298	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234;ENST00000424298	.	.	.	6.17	6.17	0.99709	.	0.042688	0.85682	D	0.000000	T	0.66268	0.2772	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;0.994;0.999	D;P;P	0.87578	0.998;0.721;0.862	T	0.67348	-0.5693	9	0.66056	D	0.02	-14.0737	16.4555	0.84011	0.0:0.0:0.8612:0.1388	.	215;189;215	B7ZLM3;Q96DP1;Q9H0E3	.;.;SP130_HUMAN	C	215;215;189;189	.	ENSP00000259234:R189C	R	-	1	0	SAP130	128488901	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.243000	0.58721	2.941000	0.99782	0.655000	0.94253	CGC		0.428	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545	
NR4A2	4929	hgsc.bcm.edu	37	2	157182365	157182365	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:157182365C>T	ENST00000339562.4	-	8	2050	c.1688G>A	c.(1687-1689)cGt>cAt	p.R563H	NR4A2_ENST00000539077.1_Missense_Mutation_p.R574H|NR4A2_ENST00000429376.1_Silent_p.S465S|NR4A2_ENST00000409108.2_Silent_p.S528S|NR4A2_ENST00000426264.1_Missense_Mutation_p.R500H|NR4A2_ENST00000409572.1_Missense_Mutation_p.R563H	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	563					adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R563H(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GCAAAGGGTACGAAGTTCTGG	0.458																																					p.R563H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1688A	2						.						113.0	115.0	115.0					2																	157182365		2203	4300	6503	156890611	SO:0001583	missense	4929	exon8			X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"""Nuclear hormone receptors"""	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.1688G>A	2.37:g.157182365C>T	ENSP00000344479:p.Arg563His	Somatic		Capture	SOLID	Phase_I	156890611	NM_006186	Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	ENST00000339562.4	37	CCDS2201.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178551	0.78564	.	.	ENSG00000153234	ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	6.07	6.07	0.98685	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	T	0.82093	0.4962	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.84230	0.0466	10	0.87932	D	0	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	563	P43354	NR4A2_HUMAN	H	563;500;563;574	ENSP00000344479:R563H;ENSP00000389986:R500H;ENSP00000386747:R563H;ENSP00000444925:R574H	ENSP00000344479:R563H	R	-	2	0	NR4A2	156890611	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.885000	0.99019	0.655000	0.94253	CGT		0.458	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2		
LY75	4065	hgsc.bcm.edu	37	2	160663515	160663515	+	Silent	SNP	A	A	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:160663515A>C	ENST00000263636.4	-	34	4986	c.4959T>G	c.(4957-4959)ggT>ggG	p.G1653G	LY75_ENST00000553424.1_Intron|LY75-CD302_ENST00000504764.1_Silent_p.G1653G|LY75-CD302_ENST00000505052.1_Intron|LY75_ENST00000554112.1_Silent_p.G1653G	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1653	C-type lectin 10. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.G1653G(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CTCTTCCAAAACCATGTTCAC	0.368																																					p.G1653G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T4959G	2						.						147.0	138.0	141.0					2																	160663515		2203	4300	6503	160371761	SO:0001819	synonymous_variant	4065	exon34			AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.4959T>G	2.37:g.160663515A>C		Somatic		Capture	SOLID	Phase_I	160371761	NM_001198759	O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Silent	SNP	ENST00000263636.4	37	CCDS2211.1																																																																																				0.368	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1		
ITGB6	3694	hgsc.bcm.edu	37	2	161051883	161051883	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:161051883C>T	ENST00000283249.2	-	4	827	c.590G>A	c.(589-591)tGc>tAc	p.C197Y	ITGB6_ENST00000409872.1_Missense_Mutation_p.C197Y|ITGB6_ENST00000409967.2_Missense_Mutation_p.C197Y|ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000428609.2_Missense_Mutation_p.C155Y	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	197	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)	p.C197Y(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TACTTACCTGCAAGGGTTGGC	0.453																																					p.C197Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G590A	2						.						88.0	94.0	92.0					2																	161051883		2203	4300	6503	160760129	SO:0001583	missense	3694	exon4				CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.590G>A	2.37:g.161051883C>T	ENSP00000283249:p.Cys197Tyr	Somatic		Capture	SOLID	Phase_I	160760129	NM_000888	B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970049	0.74246	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	D;D;D;D	0.93906	-3.31;-3.31;-3.31;-3.31	5.83	5.83	0.93111	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.97704	0.9247	M	0.92268	3.29	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98063	1.0394	10	0.87932	D	0	.	20.115	0.97926	0.0:1.0:0.0:0.0	.	155;197	E9PEE8;P18564	.;ITB6_HUMAN	Y	197;155;197;197	ENSP00000283249:C197Y;ENSP00000408024:C155Y;ENSP00000386828:C197Y;ENSP00000386367:C197Y	ENSP00000283249:C197Y	C	-	2	0	ITGB6	160760129	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.770000	0.85390	2.761000	0.94854	0.650000	0.86243	TGC		0.453	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888	
TBR1	10716	hgsc.bcm.edu	37	2	162273319	162273319	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:162273319C>T	ENST00000389554.3	+	1	715	c.398C>T	c.(397-399)gCg>gTg	p.A133V	TBR1_ENST00000410035.1_5'Flank	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	133					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A133V(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CACGGACCGGCGCACCCCGCC	0.662																																					p.A133V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C398T	2						.						78.0	86.0	84.0					2																	162273319		2203	4299	6502	161981565	SO:0001583	missense	10716	exon1			U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"""T-boxes"""	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.398C>T	2.37:g.162273319C>T	ENSP00000374205:p.Ala133Val	Somatic		Capture	SOLID	Phase_I	161981565	NM_006593	B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Missense_Mutation	SNP	ENST00000389554.3	37	CCDS33310.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.522764	0.27211	.	.	ENSG00000136535	ENST00000389554	D	0.86230	-2.09	5.24	5.24	0.73138	.	0.129222	0.51477	D	0.000087	D	0.88757	0.6523	L	0.40543	1.245	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.83304	-0.0026	10	0.06236	T	0.91	.	17.552	0.87879	0.0:1.0:0.0:0.0	.	133	Q16650	TBR1_HUMAN	V	133	ENSP00000374205:A133V	ENSP00000374205:A133V	A	+	2	0	TBR1	161981565	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.707000	0.61852	2.723000	0.93209	0.655000	0.94253	GCG		0.662	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1	NM_006593	
DPP4	1803	hgsc.bcm.edu	37	2	162890070	162890070	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:162890070G>A	ENST00000360534.3	-	10	1428	c.868C>T	c.(868-870)Cct>Tct	p.P290S		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	290					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.P290S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	ATAGAAGCAGGAGCAGTGATT	0.408																																					p.P290S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C868T	2						.						151.0	136.0	141.0					2																	162890070		2203	4300	6503	162598316	SO:0001583	missense	1803	exon10			M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.868C>T	2.37:g.162890070G>A	ENSP00000353731:p.Pro290Ser	Somatic		Capture	SOLID	Phase_I	162598316	NM_001935	Q53TN1	Missense_Mutation	SNP	ENST00000360534.3	37	CCDS2216.1	.	.	.	.	.	.	.	.	.	.	G	36	5.737739	0.96865	.	.	ENSG00000197635	ENST00000360534	D	0.96104	-3.91	5.49	5.49	0.81192	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.048302	0.85682	D	0.000000	D	0.97832	0.9288	M	0.88775	2.98	0.80722	D	1	P	0.50710	0.938	P	0.58873	0.847	D	0.98233	1.0484	10	0.87932	D	0	-17.5765	19.5755	0.95441	0.0:0.0:1.0:0.0	.	290	P27487	DPP4_HUMAN	S	290	ENSP00000353731:P290S	ENSP00000353731:P290S	P	-	1	0	DPP4	162598316	1.000000	0.71417	0.996000	0.52242	0.974000	0.67602	6.902000	0.75699	2.865000	0.98341	0.655000	0.94253	CCT		0.408	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2		
COBLL1	22837	hgsc.bcm.edu	37	2	165551185	165551185	+	Missense_Mutation	SNP	C	C	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:165551185C>A	ENST00000392717.2	-	13	2949	c.2945G>T	c.(2944-2946)aGg>aTg	p.R982M	COBLL1_ENST00000194871.6_Missense_Mutation_p.R1011M|COBLL1_ENST00000409184.3_Missense_Mutation_p.R944M|COBLL1_ENST00000342193.4_Missense_Mutation_p.R944M|COBLL1_ENST00000375458.2_Missense_Mutation_p.R906M			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	982						extracellular vesicular exosome (GO:0070062)		p.R944M(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CAGCATATCCCTTTCTGCCTC	0.463																																					p.R944M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2831T	2						.						51.0	51.0	51.0					2																	165551185		2203	4300	6503	165259431	SO:0001583	missense	22837	exon12			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2945G>T	2.37:g.165551185C>A	ENSP00000376478:p.Arg982Met	Somatic		Capture	SOLID	Phase_I	165259431	NM_014900	A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37		.	.	.	.	.	.	.	.	.	.	C	9.413	1.081134	0.20309	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	5.61	-0.475	0.12104	.	0.308276	0.32548	N	0.005955	T	0.47266	0.1436	M	0.62723	1.935	0.19300	N	0.999973	D;D;D	0.57899	0.958;0.981;0.975	P;P;P	0.55923	0.617;0.695;0.787	T	0.39057	-0.9632	9	0.56958	D	0.05	-2.0442	7.0198	0.24908	0.0:0.3509:0.1223:0.5268	.	982;1011;944	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	M	906;944;944;982;1011	.	ENSP00000194871:R1011M	R	-	2	0	COBLL1	165259431	0.022000	0.18835	0.002000	0.10522	0.010000	0.07245	-0.076000	0.11412	-0.150000	0.11195	-0.794000	0.03295	AGG		0.463	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900	
SCN2A	6326	hgsc.bcm.edu	37	2	166179856	166179856	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:166179856G>A	ENST00000375437.2	+	12	2152	c.1862G>A	c.(1861-1863)cGc>cAc	p.R621H	SCN2A_ENST00000357398.3_Missense_Mutation_p.R621H|SCN2A_ENST00000375427.2_Missense_Mutation_p.R621H|SCN2A_ENST00000283256.6_Missense_Mutation_p.R621H	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	621					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R621H(1)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGAGAACGGCGCCACAGCAAT	0.572																																					p.R621H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1862A	2						.						58.0	50.0	53.0					2																	166179856		2203	4300	6503	165888102	SO:0001583	missense	6326	exon11			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.1862G>A	2.37:g.166179856G>A	ENSP00000364586:p.Arg621His	Somatic		Capture	SOLID	Phase_I	165888102	NM_001040143	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.893280	0.91889	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22	5.64	5.64	0.86602	Domain of unknown function DUF3451 (1);	0.000000	0.64402	D	0.000004	D	0.97056	0.9038	M	0.87097	2.86	0.58432	D	0.999998	P;D	0.89917	0.924;1.0	B;D	0.91635	0.26;0.999	D	0.95646	0.8702	10	0.26408	T	0.33	.	19.705	0.96069	0.0:0.0:1.0:0.0	.	621;621	Q99250-2;Q99250	.;SCN2A_HUMAN	H	621	ENSP00000364586:R621H;ENSP00000349973:R621H;ENSP00000283256:R621H;ENSP00000364576:R621H	ENSP00000283256:R621H	R	+	2	0	SCN2A	165888102	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.401000	0.73256	2.666000	0.90696	0.637000	0.83480	CGC		0.572	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007	
CSRNP3	80034	hgsc.bcm.edu	37	2	166532945	166532945	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:166532945C>T	ENST00000342316.4	+	4	804	c.532C>T	c.(532-534)Cca>Tca	p.P178S	CSRNP3_ENST00000314499.7_Missense_Mutation_p.P178S|CSRNP3_ENST00000409420.1_Missense_Mutation_p.P210S	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	178					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P178S(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						ACAACCTTTGCCAACAAAAAA	0.473																																					p.P178S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C532T	2						.						192.0	195.0	194.0					2																	166532945		2203	4300	6503	166241191	SO:0001583	missense	80034	exon6			AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.532C>T	2.37:g.166532945C>T	ENSP00000344042:p.Pro178Ser	Somatic		Capture	SOLID	Phase_I	166241191	NM_001172173	B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	ENST00000342316.4	37	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.190312	0.78789	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000342316;ENST00000409420	T;T;T;T	0.09350	2.99;2.99;2.99;2.99	5.77	5.77	0.91146	.	0.055621	0.64402	D	0.000001	T	0.19725	0.0474	L	0.43757	1.38	0.54753	D	0.999988	P	0.50156	0.932	P	0.50659	0.647	T	0.00030	-1.2284	10	0.48119	T	0.1	-9.9617	19.3504	0.94381	0.0:1.0:0.0:0.0	.	178	Q8WYN3	CSRN3_HUMAN	S	178;185;178;178;210	ENSP00000412081:P178S;ENSP00000318258:P178S;ENSP00000344042:P178S;ENSP00000387195:P210S	ENSP00000318258:P178S	P	+	1	0	CSRNP3	166241191	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.962000	0.70364	2.885000	0.99019	0.655000	0.94253	CCA		0.473	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969	
DHRS9	10170	hgsc.bcm.edu	37	2	169948417	169948417	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:169948417G>A	ENST00000327239.4	+	7	2194	c.690G>A	c.(688-690)ctG>ctA	p.L230L	DHRS9_ENST00000357546.2_Silent_p.L230L|DHRS9_ENST00000412271.1_Silent_p.L230L|DHRS9_ENST00000432060.2_Silent_p.L290L|DHRS9_ENST00000436483.2_Silent_p.L230L|DHRS9_ENST00000421653.1_Silent_p.L83L|DHRS9_ENST00000428522.1_Silent_p.L230L|DHRS9_ENST00000602501.1_Silent_p.L230L	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	230					9-cis-retinoic acid biosynthetic process (GO:0042904)|androgen metabolic process (GO:0008209)|epithelial cell differentiation (GO:0030855)|progesterone metabolic process (GO:0042448)|retinol metabolic process (GO:0042572)	integral component of endoplasmic reticulum membrane (GO:0030176)	alcohol dehydrogenase (NAD) activity (GO:0004022)|racemase and epimerase activity (GO:0016854)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)	p.L230L(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GGGAGCAGCTGTCTCCAGACA	0.423																																					p.L230L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G690A	2						.						67.0	68.0	67.0					2																	169948417		2203	4300	6503	169656663	SO:0001819	synonymous_variant	10170	exon5			AF067174	CCDS2231.1, CCDS74600.1	2q31.1	2011-09-14			ENSG00000073737	ENSG00000073737		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	16888	protein-coding gene	gene with protein product	"""NADP-dependent retinol dehydrogenase/reductase"", ""3-alpha hydroxysteroid dehydrogenase"", ""retinol dehydrogenase homolog"", ""short chain dehydrogenase/reductase family 9C, member 4"""	612131				11304534, 11294878, 19027726	Standard	NM_001142270		Approved	RDHL, 3alpha-HSD, RETSDR8, RDH15, SDR9C4	uc010zde.2	Q9BPW9	OTTHUMG00000132180	ENST00000327239.4:c.690G>A	2.37:g.169948417G>A		Somatic		Capture	SOLID	Phase_I	169656663	NM_001142270	B7Z416|D3DPC1|Q5RKX1|Q9NRA9|Q9NRB0	Silent	SNP	ENST00000327239.4	37	CCDS2231.1																																																																																				0.423	DHRS9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333612.3	NM_005771	
SP3	6670	hgsc.bcm.edu	37	2	174777899	174777899	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:174777899C>T	ENST00000310015.6	-	6	2458	c.1928G>A	c.(1927-1929)cGt>cAt	p.R643H	SP3_ENST00000455789.2_Missense_Mutation_p.R590H|SP3_ENST00000418194.2_Missense_Mutation_p.R575H	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	643					B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.R643H(1)	EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			AGAATGCCAACGCAGATGAGC	0.413																																					p.R640H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1919A	2						.						123.0	108.0	113.0					2																	174777899		2203	4300	6503	174486145	SO:0001583	missense	6670	exon6			M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.1928G>A	2.37:g.174777899C>T	ENSP00000310301:p.Arg643His	Somatic		Capture	SOLID	Phase_I	174486145	NM_001172712	A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Missense_Mutation	SNP	ENST00000310015.6	37	CCDS2254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.46|15.46	2.840176|2.840176	0.51057|0.51057	.|.	.|.	ENSG00000172845|ENSG00000172845	ENST00000310015;ENST00000455789;ENST00000418194|ENST00000416195	T;T;T|.	0.25749|.	1.78;1.78;1.78|.	5.71|5.71	3.92|3.92	0.45320|0.45320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75436|0.75436	0.3849|0.3849	M|M	0.85041|0.85041	2.73|2.73	0.80722|0.80722	D|D	1|1	P;D;D|.	0.89917|.	0.55;1.0;1.0|.	B;D;D|.	0.97110|.	0.344;0.964;1.0|.	T|T	0.76066|0.76066	-0.3095|-0.3095	10|5	0.66056|.	D|.	0.02|.	.|.	11.203|11.203	0.48751|0.48751	0.1279:0.8061:0.0:0.066|0.1279:0.8061:0.0:0.066	.|.	640;643;590|.	B7ZLN9;Q02447;Q02447-6|.	.;SP3_HUMAN;.|.	H|I	643;590;575|600	ENSP00000310301:R643H;ENSP00000388903:R590H;ENSP00000406140:R575H|.	ENSP00000310301:R643H|.	R|V	-|-	2|1	0|0	SP3|SP3	174486145|174486145	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	7.818000|7.818000	0.86416|0.86416	0.778000|0.778000	0.33520|0.33520	-0.214000|-0.214000	0.12660|0.12660	CGT|GTT		0.413	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1	NM_003111	
NT5C1B	93034	hgsc.bcm.edu	37	2	18745216	18745216	+	Missense_Mutation	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:18745216T>C	ENST00000359846.2	-	10	1756	c.1679A>G	c.(1678-1680)gAc>gGc	p.D560G	NT5C1B_ENST00000304081.4_Missense_Mutation_p.D500G|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.D560G|NT5C1B_ENST00000600945.1_Missense_Mutation_p.D560G	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	560					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)	p.D560G(1)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				AAGAGCTTCGTCTATCTCTAG	0.532																																					p.D500G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1499G	2						.						83.0	83.0	83.0					2																	18745216		2203	4300	6503	18608697	SO:0001583	missense	93034	exon9			AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.1679A>G	2.37:g.18745216T>C	ENSP00000352904:p.Asp560Gly	Somatic		Capture	SOLID	Phase_I	18608697	NM_033253	B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	37	CCDS33150.1	.	.	.	.	.	.	.	.	.	.	T	32	5.138906	0.94560	.	.	ENSG00000250741;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000304081;ENST00000359846	.	.	.	6.16	6.16	0.99307	.	0.042443	0.85682	D	0.000000	D	0.88340	0.6410	H	0.96604	3.85	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999;0.999;0.999	D	0.91998	0.5608	9	0.87932	D	0	-32.4387	16.8061	0.85666	0.0:0.0:0.0:1.0	.	543;577;500;543;500;560;560	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;Q96P26-2;Q96P26;Q96P26-4	.;.;.;.;.;5NT1B_HUMAN;.	G	560;500;560	.	ENSP00000305979:D500G	D	-	2	0	NT5C1B-RDH14;NT5C1B	18608697	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.997000	0.88414	2.367000	0.80283	0.528000	0.53228	GAC		0.532	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1		
TTN	7273	hgsc.bcm.edu	37	2	179611361	179611361	+	Intron	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:179611361G>A	ENST00000591111.1	-	46	10585				TTN_ENST00000360870.5_Missense_Mutation_p.H5256Y|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.H5256Y(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTACAGCATGACACATGTAC	0.423																																					p.H5256Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C15766T	2						.						154.0	144.0	148.0					2																	179611361		2203	4300	6503	179319606	SO:0001627	intron_variant	7273	exon46			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-4713C>T	2.37:g.179611361G>A		Somatic		Capture	SOLID	Phase_I	179319606	NM_133379	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	5.016	0.188638	0.09547	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.66815	-0.23	5.95	5.95	0.96441	.	.	.	.	.	T	0.53417	0.1795	L	0.31157	0.91	0.80722	D	1	P	0.39282	0.666	B	0.40066	0.318	T	0.52997	-0.8500	9	0.02654	T	1	.	15.8212	0.78648	0.0:0.1351:0.8649:0.0	.	5256	Q8WZ42-6	.	Y	5256;537	ENSP00000354117:H5256Y	ENSP00000304714:H537Y	H	-	1	0	TTN	179319606	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.743000	0.62110	2.825000	0.97269	0.655000	0.94253	CAT		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
ZSWIM2	151112	hgsc.bcm.edu	37	2	187713711	187713711	+	Silent	SNP	C	C	T	rs539182033		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:187713711C>T	ENST00000295131.2	-	1	186	c.147G>A	c.(145-147)ccG>ccA	p.P49P		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	49					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P49P(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CCATGTATTCCGGCTCCTCCT	0.622																																					p.P49P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G147A	2						.						61.0	59.0	60.0					2																	187713711		2203	4300	6503	187421956	SO:0001819	synonymous_variant	151112	exon1			AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.147G>A	2.37:g.187713711C>T		Somatic		Capture	SOLID	Phase_I	187421956	NM_182521	B3KXV6|Q53SI3|Q57ZY3	Silent	SNP	ENST00000295131.2	37	CCDS33348.1																																																																																				0.622	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521	
CALCRL	10203	hgsc.bcm.edu	37	2	188245407	188245407	+	Missense_Mutation	SNP	A	A	T	rs374525357		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:188245407A>T	ENST00000409998.1	-	7	1073	c.292T>A	c.(292-294)Tca>Aca	p.S98T	CALCRL_ENST00000392370.3_Missense_Mutation_p.S98T|AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.S98T			Q16602	CALRL_HUMAN	calcitonin receptor-like	98					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to sucrose stimulus (GO:0071329)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|heart development (GO:0007507)|negative regulation of inflammatory response (GO:0050728)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of muscle contraction (GO:0006937)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	adrenomedullin receptor activity (GO:0001605)|calcitonin gene-related polypeptide receptor activity (GO:0001635)|calcitonin receptor activity (GO:0004948)|G-protein coupled receptor activity (GO:0004930)|protein transporter activity (GO:0008565)	p.S98T(1)		endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			CTTTTACCTGATGGATCAAAG	0.378																																					p.S98T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T292A	2						.	A	THR/SER	0,4406		0,0,2203	70.0	68.0	68.0		292	2.8	1.0	2		68	1,8599	1.2+/-3.3	0,1,4299	no	missense	CALCRL	NM_005795.4	58	0,1,6502	TT,TA,AA		0.0116,0.0,0.0077	benign	98/462	188245407	1,13005	2203	4300	6503	187953652	SO:0001583	missense	10203	exon6			U17473	CCDS2293.1	2q21.1-q21.3	2012-08-10			ENSG00000064989	ENSG00000064989		"""GPCR / Class B : Calcitonin receptors"""	16709	protein-coding gene	gene with protein product		114190				7818539, 8626685	Standard	NM_005795		Approved	CGRPR, CRLR	uc010frt.4	Q16602	OTTHUMG00000132636	ENST00000409998.1:c.292T>A	2.37:g.188245407A>T	ENSP00000386972:p.Ser98Thr	Somatic		Capture	SOLID	Phase_I	187953652	NM_005795	A8K6G5|A8KAD3|Q53S02|Q53TS5	Missense_Mutation	SNP	ENST00000409998.1	37	CCDS2293.1	.	.	.	.	.	.	.	.	.	.	A	9.664	1.144967	0.21288	0.0	1.16E-4	ENSG00000064989	ENST00000392370;ENST00000409998;ENST00000410068	T;T;T	0.52295	0.67;0.67;0.67	5.3	2.75	0.32379	GPCR, family 2, extracellular hormone receptor domain (3);	0.000000	0.53938	D	0.000056	T	0.20414	0.0491	N	0.04090	-0.28	0.47183	D	0.999341	B	0.09022	0.002	B	0.10450	0.005	T	0.07366	-1.0776	10	0.07813	T	0.8	.	9.1592	0.37012	0.7122:0.0:0.0:0.2878	.	98	Q16602	CALRL_HUMAN	T	98	ENSP00000376177:S98T;ENSP00000386972:S98T;ENSP00000387190:S98T	ENSP00000376177:S98T	S	-	1	0	CALCRL	187953652	1.000000	0.71417	0.993000	0.49108	0.940000	0.58332	5.513000	0.67037	1.005000	0.39183	0.460000	0.39030	TCA		0.378	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334648.1	NM_005795	
COL3A1	1281	hgsc.bcm.edu	37	2	189866287	189866287	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:189866287C>T	ENST00000304636.3	+	34	2533	c.2363C>T	c.(2362-2364)cCa>cTa	p.P788L	COL3A1_ENST00000317840.5_Missense_Mutation_p.P788L	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	788	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.P788L(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	CCCGGACTTCCAGGTATAGCT	0.433																																					p.P788L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2363T	2						.						102.0	108.0	106.0					2																	189866287		2203	4300	6503	189574532	SO:0001583	missense	1281	exon34			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2363C>T	2.37:g.189866287C>T	ENSP00000304408:p.Pro788Leu	Somatic		Capture	SOLID	Phase_I	189574532	NM_000090	D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700186	0.48307	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.94897	-3.55;-3.55	5.28	5.28	0.74379	.	0.000000	0.49305	D	0.000148	D	0.91885	0.7431	M	0.64404	1.975	0.50632	D	0.999884	P	0.35077	0.483	B	0.24155	0.051	D	0.91671	0.5350	10	0.54805	T	0.06	.	14.9439	0.71014	0.1435:0.8565:0.0:0.0	.	788	P02461	CO3A1_HUMAN	L	788	ENSP00000304408:P788L;ENSP00000315243:P788L	ENSP00000304408:P788L	P	+	2	0	COL3A1	189574532	0.041000	0.20044	1.000000	0.80357	0.789000	0.44602	3.014000	0.49590	2.637000	0.89404	0.557000	0.71058	CCA		0.433	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090	
COL3A1	1281	hgsc.bcm.edu	37	2	189871109	189871109	+	Silent	SNP	C	C	T	rs369992399		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:189871109C>T	ENST00000304636.3	+	43	3302	c.3132C>T	c.(3130-3132)ggC>ggT	p.G1044G	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1044	Triple-helical region.		G -> D (in EDS4). {ECO:0000269|PubMed:11168790}.		aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.G1044G(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	GTGCCCCTGGCGCTCCTGGTC	0.478																																					p.G1044G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3132T	2						.						83.0	86.0	85.0					2																	189871109		2203	4300	6503	189579354	SO:0001819	synonymous_variant	1281	exon43			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.3132C>T	2.37:g.189871109C>T		Somatic		Capture	SOLID	Phase_I	189579354	NM_000090	D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Silent	SNP	ENST00000304636.3	37	CCDS2297.1																																																																																				0.478	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090	
KCTD18	130535	hgsc.bcm.edu	37	2	201369584	201369584	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:201369584C>T	ENST00000359878.3	-	3	769	c.259G>A	c.(259-261)Gcc>Acc	p.A87T	KCTD18_ENST00000409157.1_Missense_Mutation_p.A87T|KCTD18_ENST00000468413.1_5'UTR	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	87					protein homooligomerization (GO:0051260)			p.A87T(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TCCTGTAGGGCGATGCGGGTT	0.433																																					p.A87T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G259A	2						.						117.0	97.0	103.0					2																	201369584		2203	4300	6503	201077829	SO:0001583	missense	130535	exon3			AK055884	CCDS2330.1	2q33.1	2013-06-20	2013-06-20		ENSG00000155729	ENSG00000155729			26446	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 18"""				Standard	NM_152387		Approved	FLJ31322, 6530404F10Rik, FLJ37818	uc002uvs.3	Q6PI47	OTTHUMG00000132781	ENST00000359878.3:c.259G>A	2.37:g.201369584C>T	ENSP00000352941:p.Ala87Thr	Somatic		Capture	SOLID	Phase_I	201077829	NM_152387	Q53T21|Q6NW26|Q6PCD8|Q8N9B7|Q96N73	Missense_Mutation	SNP	ENST00000359878.3	37	CCDS2330.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929486	0.92389	.	.	ENSG00000155729	ENST00000359878;ENST00000409157	T;T	0.76839	-1.05;-1.05	5.65	5.65	0.86999	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.64402	D	0.000003	D	0.84520	0.5490	L	0.39397	1.21	0.46564	D	0.999104	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.83560	0.0106	10	0.49607	T	0.09	-18.8688	19.5069	0.95121	0.0:1.0:0.0:0.0	.	87;87	Q6PI47-2;Q6PI47	.;KCD18_HUMAN	T	87	ENSP00000352941:A87T;ENSP00000386751:A87T	ENSP00000352941:A87T	A	-	1	0	KCTD18	201077829	1.000000	0.71417	0.974000	0.42286	0.758000	0.43043	5.790000	0.69038	2.941000	0.99782	0.655000	0.94253	GCC		0.433	KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256188.1	NM_152387	
CLK1	1195	hgsc.bcm.edu	37	2	201726143	201726143	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:201726143G>A	ENST00000321356.4	-	3	343	c.208C>T	c.(208-210)Cga>Tga	p.R70*	CLK1_ENST00000492793.1_5'UTR|CLK1_ENST00000434813.2_Nonsense_Mutation_p.R112*|Y_RNA_ENST00000516950.1_RNA	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	70					cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.R70*(1)		NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						ATGTAGCGTCGACTATGATAA	0.368																																					p.R112X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C334T	2						.						111.0	106.0	108.0					2																	201726143		2203	4300	6503	201434388	SO:0001587	stop_gained	1195	exon3			L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"""CDC-like kinases"""	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.208C>T	2.37:g.201726143G>A	ENSP00000326830:p.Arg70*	Somatic		Capture	SOLID	Phase_I	201434388	NM_001162407	B4DFW7|Q0P694|Q8N5V8	Nonsense_Mutation	SNP	ENST00000321356.4	37	CCDS2331.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240039	0.79912	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000434813	.	.	.	4.86	4.86	0.63082	.	0.293918	0.31257	N	0.007964	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.4357	0.55598	0.0:0.0:0.8328:0.1672	.	.	.	.	X	70;70;112	.	ENSP00000326830:R70X	R	-	1	2	CLK1	201434388	0.960000	0.32886	1.000000	0.80357	0.978000	0.69477	2.766000	0.47629	2.404000	0.81709	0.650000	0.86243	CGA		0.368	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2		
ICA1L	130026	hgsc.bcm.edu	37	2	203680690	203680690	+	Missense_Mutation	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:203680690A>G	ENST00000392237.2	-	8	884	c.727T>C	c.(727-729)Tcc>Ccc	p.S243P	ICA1L_ENST00000358299.2_Missense_Mutation_p.S243P	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	243	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.							p.S243P(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGAATTTGGGACATCATTCGA	0.388																																					p.S243P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T727C	2						.						121.0	115.0	117.0					2																	203680690		2203	4300	6503	203388935	SO:0001583	missense	130026	exon8			AB053317	CCDS2354.1, CCDS74632.1	2q33	2008-02-05	2006-05-26	2006-05-26	ENSG00000163596	ENSG00000163596			14442	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 15"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 14"""	ALS2CR15, ALS2CR14		11586298	Standard	NM_138468		Approved		uc002uzh.1	Q8NDH6	OTTHUMG00000132856	ENST00000392237.2:c.727T>C	2.37:g.203680690A>G	ENSP00000376070:p.Ser243Pro	Somatic		Capture	SOLID	Phase_I	203388935	NM_138468	B3KRW6|Q53P45|Q53QZ4|Q53T97|Q96N47|Q96Q32|Q9BVQ2	Missense_Mutation	SNP	ENST00000392237.2	37	CCDS2354.1	.	.	.	.	.	.	.	.	.	.	A	14.95	2.687874	0.48097	.	.	ENSG00000163596	ENST00000392237;ENST00000358299	T;T	0.77489	-1.1;-1.1	5.77	0.205	0.15204	Arfaptin-like (2);	0.302538	0.37437	N	0.002083	T	0.69070	0.3070	M	0.66939	2.045	0.80722	D	1	B	0.20671	0.047	B	0.23419	0.046	T	0.58907	-0.7553	10	0.46703	T	0.11	.	3.6544	0.08215	0.4069:0.3918:0.0743:0.127	.	243	Q8NDH6	ICA1L_HUMAN	P	243	ENSP00000376070:S243P;ENSP00000351047:S243P	ENSP00000351047:S243P	S	-	1	0	ICA1L	203388935	1.000000	0.71417	0.999000	0.59377	0.877000	0.50540	0.908000	0.28545	0.083000	0.17047	0.533000	0.62120	TCC		0.388	ICA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256330.1	NM_138468	
GPR1	2825	hgsc.bcm.edu	37	2	207041679	207041679	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:207041679G>A	ENST00000407325.2	-	3	655	c.293C>T	c.(292-294)gCc>gTc	p.A98V	GPR1_ENST00000437420.1_Missense_Mutation_p.A98V	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	98					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.A98V(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		GAAATTCATGGCCACATAGGA	0.463																																					p.A98V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C293T	2						.						130.0	126.0	127.0					2																	207041679		2203	4300	6503	206749924	SO:0001583	missense	2825	exon3				CCDS2368.1	2q33.3	2014-01-30			ENSG00000183671	ENSG00000183671		"""GPCR / Class A : Orphans"""	4463	protein-coding gene	gene with protein product		600239				7851889	Standard	NM_005279		Approved		uc031rqv.1	P46091	OTTHUMG00000132894	ENST00000407325.2:c.293C>T	2.37:g.207041679G>A	ENSP00000384345:p.Ala98Val	Somatic		Capture	SOLID	Phase_I	206749924	NM_001098199	A5JUU6|A8K4L1|Q53TR9|Q6NVX4	Missense_Mutation	SNP	ENST00000407325.2	37	CCDS2368.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763614	0.49574	.	.	ENSG00000183671	ENST00000407325;ENST00000437420;ENST00000442134;ENST00000451790;ENST00000447845	T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19	5.84	2.08	0.27032	GPCR, rhodopsin-like superfamily (1);	0.281948	0.35708	N	0.003022	T	0.38719	0.1051	L	0.37850	1.14	0.32549	N	0.532623	D	0.57571	0.98	P	0.52454	0.699	T	0.51733	-0.8668	10	0.59425	D	0.04	.	12.9716	0.58515	0.2433:0.0:0.7567:0.0	.	98	P46091	GPR1_HUMAN	V	98	ENSP00000384345:A98V;ENSP00000397535:A98V;ENSP00000414836:A98V;ENSP00000391146:A98V;ENSP00000414524:A98V	ENSP00000384345:A98V	A	-	2	0	GPR1	206749924	1.000000	0.71417	0.989000	0.46669	0.623000	0.37688	2.075000	0.41538	-0.074000	0.12820	-0.813000	0.03139	GCC		0.463	GPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256394.2	NM_001098199	
BARD1	580	hgsc.bcm.edu	37	2	215633973	215633973	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:215633973C>T	ENST00000260947.4	-	5	1512	c.1378G>A	c.(1378-1380)Gct>Act	p.A460T	BARD1_ENST00000449967.2_Missense_Mutation_p.A316T	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	460					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A460T(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GTCCATCCAGCATGGTCTTTA	0.323									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																												p.A460T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1378A	2						.						97.0	92.0	94.0					2																	215633973		2203	4300	6503	215342218	SO:0001583	missense	580	exon5	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.1378G>A	2.37:g.215633973C>T	ENSP00000260947:p.Ala460Thr	Somatic		Capture	SOLID	Phase_I	215342218	NM_000465	F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	ENST00000260947.4	37	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873068	0.91664	.	.	ENSG00000138376	ENST00000260947;ENST00000449967	T;T	0.64438	-0.1;-0.1	5.01	5.01	0.66863	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.72692	0.3492	L	0.43646	1.37	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.67593	-0.5631	10	0.23302	T	0.38	-28.8592	18.6907	0.91582	0.0:1.0:0.0:0.0	.	316;460	E7EUI3;Q99728	.;BARD1_HUMAN	T	460;316	ENSP00000260947:A460T;ENSP00000406752:A316T	ENSP00000260947:A460T	A	-	1	0	BARD1	215342218	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.447000	0.73465	2.491000	0.84063	0.655000	0.94253	GCT		0.323	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465	
FN1	2335	hgsc.bcm.edu	37	2	216284045	216284045	+	Missense_Mutation	SNP	A	A	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:216284045A>C	ENST00000359671.1	-	12	2004	c.1739T>G	c.(1738-1740)gTg>gGg	p.V580G	FN1_ENST00000346544.3_Missense_Mutation_p.V580G|FN1_ENST00000336916.4_Missense_Mutation_p.V580G|FN1_ENST00000357009.2_Missense_Mutation_p.V580G|FN1_ENST00000345488.5_Missense_Mutation_p.V580G|FN1_ENST00000421182.1_Missense_Mutation_p.V580G|FN1_ENST00000446046.1_Missense_Mutation_p.V580G|FN1_ENST00000356005.4_Missense_Mutation_p.V580G|FN1_ENST00000426059.1_Missense_Mutation_p.V580G|FN1_ENST00000323926.6_Missense_Mutation_p.V580G|FN1_ENST00000443816.1_Missense_Mutation_p.V580G|FN1_ENST00000357867.4_Missense_Mutation_p.V580G|FN1_ENST00000354785.4_Missense_Mutation_p.V580G|FN1_ENST00000432072.2_Missense_Mutation_p.V580G			P02751	FINC_HUMAN	fibronectin 1	580	Collagen-binding.|Fibronectin type-I 9. {ECO:0000255|PROSITE-ProRule:PRU00478}.			V -> A (in Ref. 5; CAH18172). {ECO:0000305}.	acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.V580G(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GACACCATGCACATACTTCTC	0.443																																					p.V580G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1739G	2						.						135.0	118.0	124.0					2																	216284045		2203	4300	6503	215992290	SO:0001583	missense	2335	exon12				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.1739T>G	2.37:g.216284045A>C	ENSP00000352696:p.Val580Gly	Somatic		Capture	SOLID	Phase_I	215992290	NM_212476	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37		.	.	.	.	.	.	.	.	.	.	A	17.81	3.480531	0.63849	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	6.06	4.89	0.63831	.	0.328711	0.25701	N	0.028874	T	0.56202	0.1969	L	0.44542	1.39	0.80722	D	1	B;D;B;P;B;B;B;B;B;B;B	0.69078	0.0;0.997;0.002;0.867;0.001;0.001;0.005;0.003;0.001;0.001;0.001	B;D;B;P;B;B;B;B;B;B;B	0.80764	0.002;0.994;0.001;0.516;0.002;0.003;0.014;0.005;0.002;0.002;0.0	T	0.58239	-0.7671	10	0.87932	D	0	.	13.5118	0.61517	0.8697:0.1303:0.0:0.0	.	580;580;580;580;580;580;580;580;580;580;580	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	G	580	ENSP00000394423:V580G;ENSP00000323534:V580G;ENSP00000338200:V580G;ENSP00000350534:V580G;ENSP00000346839:V580G;ENSP00000352696:V580G;ENSP00000265312:V580G;ENSP00000273049:V580G;ENSP00000349509:V580G;ENSP00000410422:V580G;ENSP00000415018:V580G;ENSP00000399538:V580G;ENSP00000348285:V580G;ENSP00000398907:V580G	ENSP00000265313:V580G	V	-	2	0	FN1	215992290	1.000000	0.71417	0.954000	0.39281	0.993000	0.82548	5.187000	0.65087	1.085000	0.41206	0.533000	0.62120	GTG		0.443	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476	
XRCC5	7520	hgsc.bcm.edu	37	2	217002822	217002822	+	Missense_Mutation	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:217002822A>G	ENST00000392133.3	+	14	1723	c.1262A>G	c.(1261-1263)tAt>tGt	p.Y421C	XRCC5_ENST00000471649.1_3'UTR|XRCC5_ENST00000392132.2_Missense_Mutation_p.Y421C			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	421	Ku.				brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.Y421C(1)		endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		TGTTTAGTGTATGTGCAGCTG	0.358								Non-homologous end-joining																													p.Y421C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1262G	2						.						106.0	101.0	103.0					2																	217002822		2203	4300	6503	216711067	SO:0001583	missense	7520	exon12			AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"""Ku autoantigen, 80kDa"""	194364	"""X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"""			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.1262A>G	2.37:g.217002822A>G	ENSP00000375978:p.Tyr421Cys	Somatic		Capture	SOLID	Phase_I	216711067	NM_021141	A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	ENST00000392133.3	37	CCDS2402.1	.	.	.	.	.	.	.	.	.	.	A	17.59	3.428141	0.62844	.	.	ENSG00000079246	ENST00000392133;ENST00000392132	T;T	0.31510	1.49;1.49	5.55	5.55	0.83447	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);DNA helicase, ATP-dependent, Ku type (2);	0.000000	0.85682	D	0.000000	T	0.51873	0.1700	M	0.67625	2.065	0.80722	D	1	D	0.76494	0.999	D	0.65573	0.936	T	0.51132	-0.8744	10	0.45353	T	0.12	.	14.8947	0.70636	1.0:0.0:0.0:0.0	.	421	P13010	XRCC5_HUMAN	C	421	ENSP00000375978:Y421C;ENSP00000375977:Y421C	ENSP00000375977:Y421C	Y	+	2	0	XRCC5	216711067	1.000000	0.71417	0.980000	0.43619	0.960000	0.62799	8.827000	0.92041	2.108000	0.64289	0.533000	0.62120	TAT		0.358	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	NM_021141	
TNP1	7141	hgsc.bcm.edu	37	2	217724404	217724404	+	Missense_Mutation	SNP	G	G	A	rs201394603		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:217724404G>A	ENST00000236979.2	-	2	183	c.154C>T	c.(154-156)Cgc>Tgc	p.R52C	AC007563.5_ENST00000607591.1_RNA|AC007563.5_ENST00000447289.1_RNA	NM_003284.3	NP_003275.1	P09430	STP1_HUMAN	transition protein 1 (during histone to protamine replacement)	52					chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|fertilization, exchange of chromosomal proteins (GO:0035042)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|sexual reproduction (GO:0019953)|single strand break repair (GO:0000012)|sperm motility (GO:0030317)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|spermatid nucleus elongation (GO:0007290)	male germ cell nucleus (GO:0001673)|nucleosome (GO:0000786)	DNA binding (GO:0003677)	p.R52C(1)		large_intestine(1)|lung(1)|stomach(1)	3		Renal(207;0.0822)		Epithelial(149;8.97e-07)|all cancers(144;2.46e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGTGGGAGCGGTAATTGCGA	0.517													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18931	0.0		0.0	False		,,,				2504	0.0				p.R52C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C154T	2						.						101.0	110.0	107.0					2																	217724404		2203	4300	6503	217432649	SO:0001583	missense	7141	exon2				CCDS2406.1	2q35-q36	2008-06-03			ENSG00000118245	ENSG00000118245			11951	protein-coding gene	gene with protein product		190231				2249851	Standard	NM_003284		Approved		uc002vgk.3	P09430	OTTHUMG00000133057	ENST00000236979.2:c.154C>T	2.37:g.217724404G>A	ENSP00000236979:p.Arg52Cys	Somatic		Capture	SOLID	Phase_I	217432649	NM_003284		Missense_Mutation	SNP	ENST00000236979.2	37	CCDS2406.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	13.10	2.137406	0.37728	.	.	ENSG00000118245	ENST00000236979	.	.	.	5.29	4.39	0.52855	.	0.254509	0.28677	N	0.014519	T	0.68522	0.3010	.	.	.	0.33064	D	0.534478	D	0.76494	0.999	D	0.64687	0.928	T	0.78971	-0.1993	8	0.87932	D	0	-7.8547	11.6005	0.50999	0.0:0.1791:0.8209:0.0	.	52	P09430	STP1_HUMAN	C	52	.	ENSP00000236979:R52C	R	-	1	0	TNP1	217432649	1.000000	0.71417	1.000000	0.80357	0.526000	0.34562	4.230000	0.58632	1.429000	0.47314	0.555000	0.69702	CGC		0.517	TNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256673.1	NM_003284	
TNS1	7145	hgsc.bcm.edu	37	2	218678466	218678466	+	Silent	SNP	G	G	A	rs138140495		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:218678466G>A	ENST00000171887.4	-	26	4943	c.4491C>T	c.(4489-4491)taC>taT	p.Y1497Y	TNS1_ENST00000430930.1_Silent_p.Y1476Y|TNS1_ENST00000419504.1_Silent_p.Y1484Y	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1497	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)	p.Y1497Y(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TGGCCAGCCCGTACGCGCCTC	0.592																																					p.Y1497Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4491T	2						.	G		2,4404	4.2+/-10.8	0,2,2201	111.0	108.0	109.0		4491	-6.8	0.9	2	dbSNP_134	109	0,8600		0,0,4300	no	coding-synonymous	TNS1	NM_022648.4		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		1497/1736	218678466	2,13004	2203	4300	6503	218386711	SO:0001819	synonymous_variant	7145	exon26			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.4491C>T	2.37:g.218678466G>A		Somatic		Capture	SOLID	Phase_I	218386711	NM_022648	Q4ZG71|Q6IPI5	Silent	SNP	ENST00000171887.4	37	CCDS2407.1																																																																																				0.592	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648	
GLB1L	79411	hgsc.bcm.edu	37	2	220101801	220101801	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:220101801C>T	ENST00000295759.7	-	17	2271	c.1958G>A	c.(1957-1959)gGg>gAg	p.G653E	GLB1L_ENST00000356283.3_Missense_Mutation_p.G563E|GLB1L_ENST00000409640.1_Missense_Mutation_p.G563E|GLB1L_ENST00000392089.2_Missense_Mutation_p.G653E|GLB1L_ENST00000497855.1_5'UTR			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	653					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)	p.G653E(1)		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)		CTTTCAGTGCCCACTTAACTC	0.502																																					p.G653E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1958A	2						.						90.0	81.0	84.0					2																	220101801		2203	4300	6503	219810045	SO:0001583	missense	79411	exon17				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.1958G>A	2.37:g.220101801C>T	ENSP00000295759:p.Gly653Glu	Somatic		Capture	SOLID	Phase_I	219810045	NM_024506	Q96DR0	Missense_Mutation	SNP	ENST00000295759.7	37	CCDS2437.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.037412	0.35989	.	.	ENSG00000163521	ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283	D;D;D;D	0.97352	-4.35;-4.11;-4.35;-4.11	2.65	1.61	0.23674	.	2.929930	0.03420	U	0.206260	D	0.95974	0.8689	N	0.22421	0.69	0.29373	N	0.863839	D;P	0.67145	0.996;0.675	P;B	0.56278	0.795;0.163	D	0.91588	0.5284	10	0.87932	D	0	-1.6573	7.9848	0.30205	0.2415:0.7585:0.0:0.0	.	563;653	Q6UWU2-2;Q6UWU2	.;GLB1L_HUMAN	E	653;563;653;563	ENSP00000295759:G653E;ENSP00000386354:G563E;ENSP00000375939:G653E;ENSP00000348628:G563E	ENSP00000295759:G653E	G	-	2	0	GLB1L	219810045	0.994000	0.37717	1.000000	0.80357	0.866000	0.49608	1.179000	0.31993	1.468000	0.48064	0.467000	0.42956	GGG		0.502	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	NM_024506	
PAX3	5077	hgsc.bcm.edu	37	2	223160251	223160251	+	Silent	SNP	C	C	T	rs35487147		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:223160251C>T	ENST00000350526.4	-	3	583	c.447G>A	c.(445-447)ccG>ccA	p.P149P	CCDC140_ENST00000295226.1_5'Flank|PAX3_ENST00000392069.2_Silent_p.P149P|PAX3_ENST00000344493.4_Silent_p.P149P|PAX3_ENST00000392070.2_Silent_p.P149P|PAX3_ENST00000409828.3_Silent_p.P149P|PAX3_ENST00000409551.3_Silent_p.P148P|PAX3_ENST00000336840.6_Silent_p.P149P|PAX3_ENST00000258387.5_Silent_p.P149P	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	149	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P149P(1)	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TAGTACCTGACGGCACGGTGT	0.522			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																														p.P149P			Dom	yes		2	2q35	5077	paired box gene 3	yes	M	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G447A	2						.						130.0	118.0	122.0					2																	223160251		2203	4300	6503	222868495	SO:0001819	synonymous_variant	5077	exon3				CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.447G>A	2.37:g.223160251C>T		Somatic		Capture	SOLID	Phase_I	222868495	NM_000438	G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Silent	SNP	ENST00000350526.4	37	CCDS42826.1																																																																																				0.522	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1		
SPHKAP	80309	hgsc.bcm.edu	37	2	228884429	228884429	+	Missense_Mutation	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:228884429T>C	ENST00000392056.3	-	7	1187	c.1141A>G	c.(1141-1143)Aga>Gga	p.R381G	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R381G	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	381						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.R381G(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CCATCTTGTCTAGGAGGGAGA	0.448																																					p.R381G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1141G	2						.						160.0	140.0	147.0					2																	228884429		2203	4300	6503	228592673	SO:0001583	missense	80309	exon7				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1141A>G	2.37:g.228884429T>C	ENSP00000375909:p.Arg381Gly	Somatic		Capture	SOLID	Phase_I	228592673	NM_001142644	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	T	1.340	-0.594323	0.03771	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.11495	2.77;2.77	5.79	-11.6	0.00059	.	2.641250	0.00954	N	0.003001	T	0.03871	0.0109	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.32851	-0.9891	10	0.41790	T	0.15	.	2.3118	0.04188	0.1414:0.2365:0.3303:0.2918	.	381;381	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	G	381	ENSP00000375909:R381G;ENSP00000339886:R381G	ENSP00000339886:R381G	R	-	1	2	SPHKAP	228592673	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-2.328000	0.01112	-2.053000	0.00901	-0.766000	0.03442	AGA		0.448	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623	
PSMD1	5707	hgsc.bcm.edu	37	2	232018349	232018349	+	Silent	SNP	C	C	T	rs140861367		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:232018349C>T	ENST00000308696.6	+	19	2349	c.2187C>T	c.(2185-2187)ggC>ggT	p.G729G	PSMD1_ENST00000373635.4_Silent_p.G729G|PSMD1_ENST00000409643.1_Silent_p.G729G	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	729					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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 peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|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 polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)	p.G729G(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	CCAAGTTTGGCGCTATTCTGG	0.358																																					p.G729G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2187T	2						.	C	,	1,4405	2.1+/-5.4	0,1,2202	114.0	106.0	109.0		2187,2187	-1.4	1.0	2	dbSNP_134	109	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PSMD1	NM_001191037.1,NM_002807.3	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	729/923,729/954	232018349	2,13004	2203	4300	6503	231726593	SO:0001819	synonymous_variant	5707	exon19			D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.2187C>T	2.37:g.232018349C>T		Somatic		Capture	SOLID	Phase_I	231726593	NM_002807	B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Silent	SNP	ENST00000308696.6	37	CCDS2482.1																																																																																				0.358	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2		
UGT1A1	54658	hgsc.bcm.edu	37	2	234669074	234669074	+	Silent	SNP	C	C	T	rs34526305	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:234669074C>T	ENST00000608383.1	+	1	141	c.141C>T	c.(139-141)atC>atT	p.I47I	UGT1A6_ENST00000406651.1_Intron|UGT1A8_ENST00000305208.5_Silent_p.I47I|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000609767.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000360418.3_Silent_p.I47I|UGT1A3_ENST00000482026.1_Intron|UGT1A5_ENST00000373414.3_Intron			P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	47					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)	p.I47I(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	TTGGGGCCATCCAGCAGCTGC	0.567													C|||	5	0.000998403	0.0008	0.0014	5008	,	,		17075	0.0		0.003	False		,,,				2504	0.0				p.I47I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C141T	2						.	C	,,,,,,,,,	2,4404	4.2+/-10.8	0,2,2201	92.0	72.0	79.0		141,,,,,,,,,	1.5	0.9	2	dbSNP_126	79	20,8580	14.6+/-50.1	0,20,4280	no	coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron	UGT1A10,UGT1A8,UGT1A7,UGT1A6,UGT1A5,UGT1A9,UGT1A4,UGT1A1,UGT1A3	NM_000463.2,NM_001072.3,NM_007120.2,NM_019075.2,NM_019076.4,NM_019077.2,NM_019078.1,NM_019093.2,NM_021027.2,NM_205862.1	,,,,,,,,,	0,22,6481	TT,TC,CC		0.2326,0.0454,0.1692	,,,,,,,,,	47/534,,,,,,,,,	234669074	22,12984	2203	4300	6503	234333813	SO:0001819	synonymous_variant	54658	exon1			M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000608383.1:c.141C>T	2.37:g.234669074C>T		Somatic		Capture	SOLID	Phase_I	234333813	NM_000463	A6NJC3|B8K286	Silent	SNP	ENST00000608383.1	37	CCDS2510.1																																																																																				0.567	UGT1A1-203	KNOWN	basic|CCDS	protein_coding	protein_coding			
HDAC4	9759	hgsc.bcm.edu	37	2	239990251	239990251	+	Missense_Mutation	SNP	A	A	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:239990251A>T	ENST00000345617.3	-	23	3579	c.2788T>A	c.(2788-2790)Tca>Aca	p.S930T	AC017028.9_ENST00000581111.1_RNA|MIR4440_ENST00000583986.1_RNA|AC017028.6_ENST00000577291.1_RNA|AC017028.4_ENST00000577359.1_RNA|AC017028.5_ENST00000582834.1_RNA|AC017028.10_ENST00000579161.1_RNA|AC017028.2_ENST00000578555.1_RNA|AC017028.3_ENST00000584260.1_RNA|HDAC4_ENST00000543185.1_Missense_Mutation_p.S514T	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	930	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|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)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|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)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S930T(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		AAGCCTGATGACACCAGCACC	0.597																																					p.S930T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2788A	2						.						97.0	93.0	95.0					2																	239990251		2203	4300	6503	239655188	SO:0001583	missense	9759	exon23			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2788T>A	2.37:g.239990251A>T	ENSP00000264606:p.Ser930Thr	Somatic		Capture	SOLID	Phase_I	239655188	NM_006037	Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	A	16.74	3.207847	0.58343	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185	T;T	0.73363	-0.74;-0.74	3.94	3.94	0.45596	Histone deacetylase domain (2);	0.062950	0.64402	N	0.000003	D	0.90734	0.7092	H	0.98005	4.125	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.996;0.998	D	0.93733	0.7043	10	0.87932	D	0	.	13.4994	0.61445	1.0:0.0:0.0:0.0	.	898;930	Q53SM2;P56524	.;HDAC4_HUMAN	T	930;818;514	ENSP00000264606:S930T;ENSP00000440481:S514T	ENSP00000264606:S930T	S	-	1	0	HDAC4	239655188	1.000000	0.71417	0.984000	0.44739	0.027000	0.11550	8.786000	0.91826	1.725000	0.51514	0.260000	0.18958	TCA		0.597	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037	
ANO7	50636	hgsc.bcm.edu	37	2	242163145	242163145	+	Missense_Mutation	SNP	C	C	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:242163145C>G	ENST00000274979.8	+	23	2746	c.2643C>G	c.(2641-2643)atC>atG	p.I881M		NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	881					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)	p.I881M(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CTGTGGAGATCAAAGTGAAGC	0.607																																					p.I881M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2643G	2						.						78.0	72.0	74.0					2																	242163145		2203	4300	6503	241811818	SO:0001583	missense	50636	exon23			AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.2643C>G	2.37:g.242163145C>G	ENSP00000274979:p.Ile881Met	Somatic		Capture	SOLID	Phase_I	241811818	NM_001001891	Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.057542	0.36277	.	.	ENSG00000146205	ENST00000274979	T	0.64085	-0.08	3.85	1.64	0.23874	.	1.046700	0.07635	U	0.929251	T	0.69566	0.3125	M	0.67625	2.065	0.54753	D	0.999982	D	0.56968	0.978	P	0.58454	0.839	T	0.63409	-0.6644	10	0.38643	T	0.18	.	4.4715	0.11715	0.2765:0.5197:0.0:0.2037	.	881	Q6IWH7	ANO7_HUMAN	M	881	ENSP00000274979:I881M	ENSP00000274979:I881M	I	+	3	3	ANO7	241811818	0.065000	0.20965	0.459000	0.27081	0.913000	0.54294	0.247000	0.18179	0.488000	0.27723	0.467000	0.42956	ATC		0.607	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891	
CENPO	79172	hgsc.bcm.edu	37	2	25022672	25022672	+	Nonsense_Mutation	SNP	C	C	T	rs146744493		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:25022672C>T	ENST00000380834.2	+	3	600	c.175C>T	c.(175-177)Cga>Tga	p.R59*	CENPO_ENST00000260662.1_Nonsense_Mutation_p.R59*|CENPO_ENST00000473706.1_Nonsense_Mutation_p.R53*			Q9BU64	CENPO_HUMAN	centromere protein O	59					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.R59*(1)		breast(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					AAGGCGTCTGCGAGATGAGCT	0.532																																					p.R53X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C157T	2						.	C	stop/ARG,stop/ARG	0,4406		0,0,2203	95.0	104.0	101.0		157,175	4.8	0.5	2	dbSNP_134	101	2,8598	2.2+/-6.3	0,2,4298	yes	stop-gained,stop-gained	CENPO	NM_001199803.1,NM_024322.2	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	53/295,59/301	25022672	2,13004	2203	4300	6503	24876176	SO:0001587	stop_gained	79172	exon2			AK027859	CCDS1714.1, CCDS56113.1	2p23.3	2013-11-05			ENSG00000138092	ENSG00000138092			28152	protein-coding gene	gene with protein product		611504				16622420, 16622419	Standard	NM_024322		Approved	MGC11266, CENP-O	uc002rfp.2	Q9BU64	OTTHUMG00000125525	ENST00000380834.2:c.175C>T	2.37:g.25022672C>T	ENSP00000370214:p.Arg59*	Somatic		Capture	SOLID	Phase_I	24876176	NM_001199803	B2RDC0|D6W536|Q53T55|Q96JV3	Nonsense_Mutation	SNP	ENST00000380834.2	37	CCDS1714.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.603254	0.28534	0.0	2.33E-4	ENSG00000138092	ENST00000380834;ENST00000473706;ENST00000260662	.	.	.	4.75	4.75	0.60458	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.4385	13.158	0.59529	0.0:1.0:0.0:0.0	.	.	.	.	X	59;53;59	.	.	R	+	1	2	CENPO	24876176	0.940000	0.31905	0.512000	0.27736	0.014000	0.08584	2.104000	0.41815	2.492000	0.84095	0.543000	0.68304	CGA		0.532	CENPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246856.2	NM_024322	
DRC1	92749	hgsc.bcm.edu	37	2	26667779	26667779	+	Silent	SNP	C	C	T	rs77226260	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:26667779C>T	ENST00000288710.2	+	10	1433	c.1359C>T	c.(1357-1359)tcC>tcT	p.S453S	DRC1_ENST00000483675.1_3'UTR	NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	453					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.S453S(2)									CCCAGAAGTCCGCCACACAGA	0.527													C|||	201	0.0401358	0.0371	0.0072	5008	,	,		18524	0.0615		0.001	False		,,,				2504	0.0859				p.S453S												.	.	2	Substitution - coding silent(2)	large_intestine(1)|stomach(1)	c.C1359T	2						.	C		120,4286	89.2+/-127.9	1,118,2084	68.0	61.0	63.0		1359	-10.0	0.0	2	dbSNP_132	63	6,8594	3.7+/-12.6	0,6,4294	no	coding-synonymous	CCDC164	NM_145038.2		1,124,6378	TT,TC,CC		0.0698,2.7236,0.9688		453/741	26667779	126,12880	2203	4300	6503	26521283	SO:0001819	synonymous_variant	92749	exon10			AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.1359C>T	2.37:g.26667779C>T		Somatic		Capture	SOLID	Phase_I	26521283	NM_145038	A8K1N8|Q53R91|Q53TA3|Q8NDI5	Silent	SNP	ENST00000288710.2	37	CCDS1723.1																																																																																				0.527	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038	
BRE	9577	hgsc.bcm.edu	37	2	28521330	28521330	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:28521330G>A	ENST00000342045.2	+	12	1201	c.1060G>A	c.(1060-1062)Gat>Aat	p.D354N	BRE_ENST00000361704.2_Missense_Mutation_p.D354N|BRE_ENST00000379632.2_Missense_Mutation_p.D354N|BRE_ENST00000344773.2_Missense_Mutation_p.D354N|BRE_ENST00000379624.1_Missense_Mutation_p.D354N	NM_199194.2	NP_954664.1			brain and reproductive organ-expressed (TNFRSF1A modulator)									p.D354N(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					CCCCAGATGGGATGGAAATGA	0.438																																					p.D354N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1060A	2						.						109.0	111.0	110.0					2																	28521330		2203	4300	6503	28374834	SO:0001583	missense	9577	exon12			AF015767	CCDS1763.1, CCDS1764.1, CCDS1765.1	2p23	2008-02-05			ENSG00000158019	ENSG00000158019			1106	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 4"""	610497				9737713, 7826398	Standard	NM_004899		Approved	BRCC45, BRCC4	uc002rls.3	Q9NXR7	OTTHUMG00000097831	ENST00000342045.2:c.1060G>A	2.37:g.28521330G>A	ENSP00000339371:p.Asp354Asn	Somatic		Capture	SOLID	Phase_I	28374834	NM_199193		Missense_Mutation	SNP	ENST00000342045.2	37	CCDS1763.1	.	.	.	.	.	.	.	.	.	.	G	33	5.288473	0.95517	.	.	ENSG00000158019	ENST00000344773;ENST00000379624;ENST00000342045;ENST00000379632;ENST00000361704;ENST00000379623	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.75939	0.3918	L	0.50333	1.59	0.80722	D	1	D;D;D;D	0.71674	0.998;0.993;0.996;0.996	D;D;D;D	0.78314	0.991;0.971;0.987;0.987	T	0.73088	-0.4093	9	0.41790	T	0.15	-22.4261	19.9501	0.97195	0.0:0.0:1.0:0.0	.	354;354;354;354	Q9NXR7-1;Q9NXR7;Q9NXR7-4;Q9NXR7-3	.;BRE_HUMAN;.;.	N	354;354;354;354;354;256	.	ENSP00000339371:D354N	D	+	1	0	BRE	28374834	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.837000	0.99465	2.732000	0.93576	0.655000	0.94253	GAT		0.438	BRE-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215114.1		
ALK	238	hgsc.bcm.edu	37	2	29917879	29917879	+	Splice_Site	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:29917879A>G	ENST00000389048.3	-	3	1695	c.789T>C	c.(787-789)ggT>ggC	p.G263G	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	263					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.G263G(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	TGCACTCCAGACCTGCAATAA	0.557			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																												p.G263G		yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"""L, E, M"""	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T789C	2						.						80.0	78.0	78.0					2																	29917879		2203	4300	6503	29771383	SO:0001630	splice_region_variant	238	exon3	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.788-1T>C	2.37:g.29917879A>G		Somatic		Capture	SOLID	Phase_I	29771383	NM_004304	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Silent	SNP	ENST00000389048.3	37	CCDS33172.1																																																																																				0.557	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304	Silent
NLRC4	58484	hgsc.bcm.edu	37	2	32476186	32476186	+	Silent	SNP	G	G	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:32476186G>T	ENST00000404025.2	-	5	1235	c.747C>A	c.(745-747)ggC>ggA	p.G249G	NLRC4_ENST00000402280.1_Silent_p.G249G|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Silent_p.G249G			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	249	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Nucleotide-binding domain (NBD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.G249G(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ATTCATTGTAGCCATCAAGAA	0.488																																					p.G249G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C747A	2						.						97.0	97.0	97.0					2																	32476186		2203	4300	6503	32329690	SO:0001819	synonymous_variant	58484	exon4			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.747C>A	2.37:g.32476186G>T		Somatic		Capture	SOLID	Phase_I	32329690	NM_021209	A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Silent	SNP	ENST00000404025.2	37	CCDS33174.1																																																																																				0.488	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209	
CRIM1	51232	hgsc.bcm.edu	37	2	36744684	36744684	+	Splice_Site	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:36744684A>G	ENST00000280527.2	+	12	2572	c.2205A>G	c.(2203-2205)acA>acG	p.T735T		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	735	VWFC 4. {ECO:0000255|PROSITE- ProRule:PRU00220}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.T735T(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CACAGTGTACAGGTAAGCGAC	0.617																																					p.T735T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2205G	2						.						51.0	48.0	49.0					2																	36744684		2203	4300	6503	36598188	SO:0001630	splice_region_variant	51232	exon12			AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.2206+1A>G	2.37:g.36744684A>G		Somatic		Capture	SOLID	Phase_I	36598188	NM_016441	Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Silent	SNP	ENST00000280527.2	37	CCDS1783.1																																																																																				0.617	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441	Silent
QPCT	25797	hgsc.bcm.edu	37	2	37594509	37594509	+	Silent	SNP	G	G	A	rs144007811		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:37594509G>A	ENST00000338415.3	+	4	839	c.681G>A	c.(679-681)ccG>ccA	p.P227P	QPCT_ENST00000537448.1_Silent_p.P178P	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	227					cellular protein modification process (GO:0006464)|peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	extracellular vesicular exosome (GO:0070062)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)	p.P227P(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				CATCGACCCCGCACCCACCTG	0.527																																					p.P227P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G681A	2						.	G		1,4405	2.1+/-5.4	0,1,2202	74.0	70.0	71.0		681	-11.2	0.0	2	dbSNP_134	71	0,8600		0,0,4300	no	coding-synonymous	QPCT	NM_012413.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		227/362	37594509	1,13005	2203	4300	6503	37448013	SO:0001819	synonymous_variant	25797	exon4			X71125	CCDS1790.1	2p22	2008-07-31	2008-07-31		ENSG00000115828	ENSG00000115828	2.3.2.5		9753	protein-coding gene	gene with protein product	"""glutaminyl cyclase"""	607065				7999256	Standard	NM_012413		Approved	QC, GCT	uc002rqg.3	Q16769	OTTHUMG00000100963	ENST00000338415.3:c.681G>A	2.37:g.37594509G>A		Somatic		Capture	SOLID	Phase_I	37448013	NM_012413	Q16770|Q3KRG6|Q53TR4	Silent	SNP	ENST00000338415.3	37	CCDS1790.1																																																																																				0.527	QPCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218572.2		
OXER1	165140	hgsc.bcm.edu	37	2	42990878	42990878	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:42990878G>A	ENST00000378661.2	-	1	523	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	148					G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cAMP biosynthetic process (GO:0030817)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050648)|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050647)|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050646)|G-protein coupled receptor activity (GO:0004930)	p.R148C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						TAGTCCACGCGGAGGGGCAGG	0.612																																					p.R148C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C442T	2						.						69.0	60.0	63.0					2																	42990878		2203	4300	6503	42844382	SO:0001583	missense	165140	exon1			AB083055	CCDS1810.1	2p22.1	2012-08-10			ENSG00000162881	ENSG00000162881		"""GPCR / Class A : Leukotriene receptors"""	24884	protein-coding gene	gene with protein product	"""5-oxo-ETE acid G-protein-coupled receptor 1"""					12065583, 15001665	Standard	NM_148962		Approved	GPCR, TG1019, GPR170	uc002rss.3	Q8TDS5	OTTHUMG00000128643	ENST00000378661.2:c.442C>T	2.37:g.42990878G>A	ENSP00000367930:p.Arg148Cys	Somatic		Capture	SOLID	Phase_I	42844382	NM_148962	Q86WP7|Q8NGW4	Missense_Mutation	SNP	ENST00000378661.2	37	CCDS1810.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.315733	0.23908	.	.	ENSG00000162881	ENST00000378661	T	0.72167	-0.63	3.56	2.68	0.31781	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000017	T	0.78880	0.4353	M	0.63843	1.955	0.18873	N	0.999981	D	0.89917	1.0	D	0.87578	0.998	T	0.67639	-0.5619	10	0.66056	D	0.02	.	8.5897	0.33679	0.1168:0.0:0.8832:0.0	.	148	Q8TDS5	OXER1_HUMAN	C	148	ENSP00000367930:R148C	ENSP00000367930:R148C	R	-	1	0	OXER1	42844382	0.001000	0.12720	0.001000	0.08648	0.020000	0.10135	0.609000	0.24238	0.709000	0.31976	0.555000	0.69702	CGC		0.612	OXER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250514.1	NM_148962	
PLEKHH2	130271	hgsc.bcm.edu	37	2	43953501	43953501	+	Nonsense_Mutation	SNP	C	C	T	rs201016145		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:43953501C>T	ENST00000282406.4	+	17	2742	c.2632C>T	c.(2632-2634)Cga>Tga	p.R878*		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	878	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)	p.R878*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGCCAGTGGACGAAGTCTGTT	0.398													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15031	0.0		0.0	False		,,,				2504	0.0				p.R878X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2632T	2						.						113.0	106.0	108.0					2																	43953501		2203	4300	6503	43807005	SO:0001587	stop_gained	130271	exon17			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.2632C>T	2.37:g.43953501C>T	ENSP00000282406:p.Arg878*	Somatic		Capture	SOLID	Phase_I	43807005	NM_172069	Q5JPJ6|Q6P4Q1|Q8N3Q3	Nonsense_Mutation	SNP	ENST00000282406.4	37	CCDS1812.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	40	8.394486	0.98791	.	.	ENSG00000152527	ENST00000282406	.	.	.	5.57	3.74	0.42951	.	0.113257	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-4.1854	11.1114	0.48235	0.1284:0.8043:0.0:0.0673	.	.	.	.	X	878	.	ENSP00000282406:R878X	R	+	1	2	PLEKHH2	43807005	0.997000	0.39634	0.015000	0.15790	0.794000	0.44872	3.575000	0.53870	0.665000	0.31066	0.650000	0.86243	CGA		0.398	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069	
PPM1B	5495	hgsc.bcm.edu	37	2	44428594	44428594	+	Missense_Mutation	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:44428594A>G	ENST00000282412.4	+	2	668	c.256A>G	c.(256-258)Agg>Ggg	p.R86G	PPM1B_ENST00000409895.4_Missense_Mutation_p.R86G|PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000409432.3_Missense_Mutation_p.R86G|PPM1B_ENST00000378551.2_Missense_Mutation_p.R86G	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	86					cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)	p.R86G(1)		kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CGAAGACTTTAGGGCAGCTGG	0.383																																					p.R86G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A256G	2						.						106.0	104.0	105.0					2																	44428594		2203	4300	6503	44282098	SO:0001583	missense	5495	exon2			AJ005801	CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1	2p22.1	2012-04-17	2010-03-05		ENSG00000138032	ENSG00000138032	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9276	protein-coding gene	gene with protein product	"""protein phosphatase 2C, beta isoform"""	603770	"""protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform"""			9684878	Standard	NM_002706		Approved	PPC2BETAX, PP2CB, PP2CBETA	uc002rtt.3	O75688	OTTHUMG00000128757	ENST00000282412.4:c.256A>G	2.37:g.44428594A>G	ENSP00000282412:p.Arg86Gly	Somatic		Capture	SOLID	Phase_I	44282098	NM_002706	Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	Missense_Mutation	SNP	ENST00000282412.4	37	CCDS1817.1	.	.	.	.	.	.	.	.	.	.	A	11.63	1.695192	0.30052	.	.	ENSG00000138032	ENST00000419807;ENST00000409895;ENST00000409432;ENST00000282412;ENST00000378551;ENST00000409473	T;T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28;2.28	5.82	1.78	0.24846	Protein phosphatase 2C-like (5);	0.258660	0.47852	D	0.000211	T	0.09291	0.0229	N	0.05534	-0.03	0.37380	D	0.91199	B;B;B;B;B	0.09022	0.001;0.001;0.001;0.002;0.001	B;B;B;B;B	0.12156	0.004;0.002;0.004;0.007;0.003	T	0.14476	-1.0471	10	0.46703	T	0.11	-4.9526	13.0286	0.58829	0.6149:0.3851:0.0:0.0	.	86;86;86;86;86	Q4J6C0;O75688-2;Q4J6C1;O75688;Q4J6C2	.;.;.;PPM1B_HUMAN;.	G	86	ENSP00000390087:R86G;ENSP00000387341:R86G;ENSP00000387287:R86G;ENSP00000282412:R86G;ENSP00000367813:R86G;ENSP00000386982:R86G	ENSP00000282412:R86G	R	+	1	2	PPM1B	44282098	0.997000	0.39634	0.870000	0.34147	0.863000	0.49368	3.257000	0.51500	0.418000	0.25898	0.533000	0.62120	AGG		0.383	PPM1B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250672.1	NM_002706	
CAMKMT	79823	hgsc.bcm.edu	37	2	44981256	44981256	+	Splice_Site	SNP	G	G	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:44981256G>T	ENST00000378494.3	+	9	805	c.761G>T	c.(760-762)aGg>aTg	p.R254M		NM_024766.4	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase	254						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	calmodulin-lysine N-methyltransferase activity (GO:0018025)	p.R254M(1)		breast(2)|large_intestine(3)|lung(5)	10						CTCCAGCCCAGGGTAAGTATG	0.423																																					p.R254M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G761T	2						.						239.0	242.0	241.0					2																	44981256		2203	4300	6503	44834760	SO:0001630	splice_region_variant	79823	exon9				CCDS1820.1	2p21	2011-06-22	2011-03-10	2011-03-10	ENSG00000143919	ENSG00000143919	2.1.1.60		26276	protein-coding gene	gene with protein product	"""CaM KMT"""	609559	"""chromosome 2 open reading frame 34"""	C2orf34		20975703	Standard	NM_024766		Approved	CLNMT	uc002rum.3	Q7Z624	OTTHUMG00000128761	ENST00000378494.3:c.762+1G>T	2.37:g.44981256G>T		Somatic		Capture	SOLID	Phase_I	44834760	NM_024766	Q4ZG15|Q53SS6|Q8N6P5|Q9H5G8	Missense_Mutation	SNP	ENST00000378494.3	37	CCDS1820.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.882311	0.33255	.	.	ENSG00000143919	ENST00000378494	T	0.09538	2.97	5.79	4.0	0.46444	.	0.429139	0.30940	N	0.008565	T	0.07638	0.0192	N	0.17082	0.46	0.80722	D	1	B	0.18461	0.028	B	0.14023	0.01	T	0.18618	-1.0331	10	0.49607	T	0.09	-0.0107	11.9732	0.53075	0.0:0.1548:0.7245:0.1207	.	254	Q7Z624	CMKMT_HUMAN	M	254	ENSP00000367755:R254M	ENSP00000367755:R254M	R	+	2	0	CAMKMT	44834760	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	2.630000	0.46494	0.788000	0.33755	0.655000	0.94253	AGG		0.423	CAMKMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250678.2	NM_024766	Missense_Mutation
EPAS1	2034	hgsc.bcm.edu	37	2	46588038	46588038	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:46588038G>A	ENST00000263734.3	+	6	1098	c.588G>A	c.(586-588)acG>acA	p.T196T		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	196					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)	p.T196T(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TGCACTGCACGGGCCAGGTGA	0.587																																					p.T196T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G588A	2						.						98.0	95.0	96.0					2																	46588038		2203	4300	6503	46441542	SO:0001819	synonymous_variant	2034	exon6			U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.588G>A	2.37:g.46588038G>A		Somatic		Capture	SOLID	Phase_I	46441542	NM_001430	Q86VA2|Q99630	Silent	SNP	ENST00000263734.3	37	CCDS1825.1																																																																																				0.587	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430	
TTC7A	57217	hgsc.bcm.edu	37	2	47184025	47184025	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:47184025C>T	ENST00000319190.5	+	3	764	c.396C>T	c.(394-396)taC>taT	p.Y132Y	RP11-15I20.1_ENST00000607950.1_RNA|TTC7A_ENST00000394850.2_Silent_p.Y132Y|TTC7A_ENST00000263737.6_5'UTR|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000409245.1_Silent_p.Y98Y	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	132					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)			p.Y132Y(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			AACTGCATTACGTGGAGGGCT	0.547																																					p.Y132Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C396T	2						.						174.0	147.0	157.0					2																	47184025		2203	4300	6503	47037529	SO:0001819	synonymous_variant	57217	exon3			AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"""Tetratricopeptide (TTC) repeat domain containing"""	19750	protein-coding gene	gene with protein product		609332	"""tetratricopeptide repeat domain 7"""	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.396C>T	2.37:g.47184025C>T		Somatic		Capture	SOLID	Phase_I	47037529	NM_020458	Q6PIX4|Q8ND67|Q9BUS3	Silent	SNP	ENST00000319190.5	37	CCDS33193.1																																																																																				0.547	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927	
EPCAM	4072	hgsc.bcm.edu	37	2	47607098	47607100	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	TTG	TTG	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:47607098_47607100delTTG	ENST00000263735.4	+	7	1206_1208	c.848_850delTTG	c.(847-852)attgtt>att	p.V285del	MIR559_ENST00000385188.1_RNA|EPCAM_ENST00000405271.1_In_Frame_Del_p.V313del	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	285					negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|stem cell differentiation (GO:0048863)|ureteric bud development (GO:0001657)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein complex binding (GO:0032403)	p.0?(2)|p.V285delV(1)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						gttgctggaattgttgtGCTGGT	0.394																																					p.283_284del												.	.	4	Whole gene deletion(2)|Deletion - In frame(1)|Unknown(1)	haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)	c.848_850del	2						.																																			47460604	SO:0001651	inframe_deletion	4072	exon7			M33011	CCDS1833.1	2p21	2014-09-17	2008-12-16	2008-12-16	ENSG00000119888	ENSG00000119888		"""CD molecules"""	11529	protein-coding gene	gene with protein product		185535	"""antigen identified by monoclonal antibody AUA1"", ""tumor-associated calcium signal transducer 1"""	M4S1, MIC18, TACSTD1		8382772, 11306819	Standard	NM_002354		Approved	Ly74, TROP1, GA733-2, EGP34, EGP40, EGP-2, KSA, CD326, Ep-CAM, HEA125, KS1/4, MK-1, MH99, MOC31, 323/A3, 17-1A, TACST-1, CO-17A, ESA	uc002rvx.3	P16422	OTTHUMG00000128853	ENST00000263735.4:c.848_850delTTG	2.37:g.47607101_47607103delTTG	ENSP00000263735:p.Val285del	Somatic		Capture	SOLID	Phase_I	47460602	NM_002354	P18180|Q6FG26|Q6FG49|Q96C47|Q9UCD0	In_Frame_Del	DEL	ENST00000263735.4	37	CCDS1833.1																																																																																				0.394	EPCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250792.2		
FSHR	2492	hgsc.bcm.edu	37	2	49210242	49210242	+	Silent	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:49210242A>G	ENST00000406846.2	-	7	707	c.588T>C	c.(586-588)gaT>gaC	p.D196D	FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000304421.4_Silent_p.D170D|FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000346173.3_Silent_p.D196D	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	196					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.D196D(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	CTTACAGCTCATCTAGTTGGG	0.368									Gonadal Dysgenesis, 46 XX																												p.D170D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T510C	2						.						102.0	100.0	100.0					2																	49210242		2203	4300	6503	49063746	SO:0001819	synonymous_variant	2492	exon6	Familial Cancer Database			CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.588T>C	2.37:g.49210242A>G		Somatic		Capture	SOLID	Phase_I	49063746	NM_181446	A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Silent	SNP	ENST00000406846.2	37	CCDS1843.1																																																																																				0.368	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2		
CCDC88A	55704	hgsc.bcm.edu	37	2	55549732	55549732	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:55549732G>A	ENST00000436346.1	-	18	3935	c.3094C>T	c.(3094-3096)Cga>Tga	p.R1032*	AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000263630.8_Nonsense_Mutation_p.R1032*|CCDC88A_ENST00000336838.6_Nonsense_Mutation_p.R1031*|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000413716.2_Nonsense_Mutation_p.R1031*|AC012358.8_ENST00000599352.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1032					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)	p.R1032*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TGACTTTCTCGCTCCCATTTG	0.333																																					p.R1031X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3091T	2						.						109.0	108.0	108.0					2																	55549732		2203	4300	6503	55403236	SO:0001587	stop_gained	55704	exon18			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.3094C>T	2.37:g.55549732G>A	ENSP00000410608:p.Arg1032*	Somatic		Capture	SOLID	Phase_I	55403236	NM_001135597	A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Nonsense_Mutation	SNP	ENST00000436346.1	37		.	.	.	.	.	.	.	.	.	.	G	32	5.149527	0.94645	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000412148;ENST00000413716;ENST00000426576	.	.	.	5.03	1.54	0.23209	.	0.149996	0.29806	U	0.011153	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-2.5104	12.961	0.58458	0.0:0.0:0.2926:0.7074	.	.	.	.	X	1031;1032;1032;77;1031;207	.	ENSP00000263630:R1032X	R	-	1	2	CCDC88A	55403236	0.963000	0.33076	0.999000	0.59377	0.969000	0.65631	3.861000	0.56002	0.584000	0.29591	-0.182000	0.12963	CGA		0.333	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571	
CCDC88A	55704	hgsc.bcm.edu	37	2	55561837	55561837	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:55561837C>T	ENST00000436346.1	-	15	2961	c.2120G>A	c.(2119-2121)cGa>cAa	p.R707Q	AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.R707Q|CCDC88A_ENST00000336838.6_Missense_Mutation_p.R707Q|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.R707Q|AC012358.8_ENST00000599352.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	707					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)	p.R707Q(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TACATTCCTTCGCAGTTCTAA	0.348																																					p.R707Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G2120A	2						.						81.0	83.0	82.0					2																	55561837		2202	4299	6501	55415341	SO:0001583	missense	55704	exon15			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.2120G>A	2.37:g.55561837C>T	ENSP00000410608:p.Arg707Gln	Somatic		Capture	SOLID	Phase_I	55415341	NM_001135597	A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37		.	.	.	.	.	.	.	.	.	.	C	21.5	4.162708	0.78226	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.16743	2.32;2.56;2.52;2.33	4.9	4.9	0.64082	.	0.000000	0.40818	U	0.001009	T	0.39332	0.1074	M	0.64567	1.98	0.80722	D	1	D;D;P	0.76494	0.971;0.999;0.917	P;D;B	0.77557	0.59;0.99;0.336	T	0.05716	-1.0868	10	0.25751	T	0.34	-8.8176	18.4293	0.90619	0.0:1.0:0.0:0.0	.	707;707;707	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	Q	707	ENSP00000338728:R707Q;ENSP00000263630:R707Q;ENSP00000410608:R707Q;ENSP00000404431:R707Q	ENSP00000263630:R707Q	R	-	2	0	CCDC88A	55415341	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.535000	0.67173	2.421000	0.82119	0.462000	0.41574	CGA		0.348	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571	
CNRIP1	25927	hgsc.bcm.edu	37	2	68544328	68544328	+	Silent	SNP	C	C	T	rs369650513		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:68544328C>T	ENST00000263655.3	-	2	896	c.291G>A	c.(289-291)acG>acA	p.T97T	CNRIP1_ENST00000409862.1_Silent_p.T97T|CNRIP1_ENST00000481714.1_5'UTR|CNRIP1_ENST00000409559.3_Silent_p.T97T	NM_015463.2	NP_056278.1	Q96F85	CNRP1_HUMAN	cannabinoid receptor interacting protein 1	97								p.T97T(2)		kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						CTCCACTCTTCGTTGGGGTCA	0.498																																					p.T97T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G291A	2						.						185.0	158.0	167.0					2																	68544328		2203	4300	6503	68397832	SO:0001819	synonymous_variant	25927	exon2			AL110235	CCDS1886.1, CCDS46311.1	2p13	2008-02-05	2007-11-29	2007-11-29	ENSG00000119865	ENSG00000119865			24546	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 32"""	C2orf32		12477932	Standard	NM_015463		Approved	DKFZP566K1924, CRIP1, CRIP1a, CRIP1b	uc002sek.4	Q96F85	OTTHUMG00000129565	ENST00000263655.3:c.291G>A	2.37:g.68544328C>T		Somatic		Capture	SOLID	Phase_I	68397832	NM_015463	B2R4D0|Q49AN4|Q9UFZ0	Silent	SNP	ENST00000263655.3	37	CCDS1886.1																																																																																				0.498	CNRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251758.1	NM_015463	
ADD2	119	hgsc.bcm.edu	37	2	70890767	70890767	+	Silent	SNP	C	C	T	rs540699345		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:70890767C>T	ENST00000264436.4	-	16	2415	c.1971G>A	c.(1969-1971)acG>acA	p.T657T	ADD2_ENST00000407644.2_Silent_p.T657T|ADD2_ENST00000355733.3_3'UTR	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	657					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)	p.T657T(1)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TTTCCTCTGCCGTCTGCTCCT	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		16900	0.0		0.0	False		,,,				2504	0.001				p.T657T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1971A	2						.						159.0	134.0	143.0					2																	70890767		2203	4300	6503	70744275	SO:0001819	synonymous_variant	119	exon16			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1971G>A	2.37:g.70890767C>T		Somatic		Capture	SOLID	Phase_I	70744275	NM_001185054	A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Silent	SNP	ENST00000264436.4	37	CCDS1906.1																																																																																				0.572	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617	
ACTG2	72	hgsc.bcm.edu	37	2	74141934	74141934	+	Missense_Mutation	SNP	G	G	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:74141934G>T	ENST00000409624.1	+	8	1384	c.741G>T	c.(739-741)caG>caT	p.Q247H	ACTG2_ENST00000409731.3_Missense_Mutation_p.Q204H|ACTG2_ENST00000345517.3_Missense_Mutation_p.Q247H			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	247					muscle contraction (GO:0006936)	blood microparticle (GO:0072562)|cell periphery (GO:0071944)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.Q247H(1)		large_intestine(3)|lung(14)|skin(1)	18						CAGATGGGCAGGTTATCACCA	0.552																																					p.Q247H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G741T	2						.						83.0	77.0	79.0					2																	74141934		2203	4300	6503	73995442	SO:0001583	missense	72	exon7				CCDS1930.1, CCDS56124.1	2p13.1	2008-05-20			ENSG00000163017	ENSG00000163017			145	protein-coding gene	gene with protein product		102545		ACTL3, ACTA3		1710027, 1673027	Standard	NM_001199893		Approved	ACTSG	uc002sjw.3	P63267	OTTHUMG00000129813	ENST00000409624.1:c.741G>T	2.37:g.74141934G>T	ENSP00000386857:p.Gln247His	Somatic		Capture	SOLID	Phase_I	73995442	NM_001615	B2R7E7|B4E315|D6W5H8|E9PG30|P12718|Q504R1|Q6FI22	Missense_Mutation	SNP	ENST00000409624.1	37	CCDS1930.1	.	.	.	.	.	.	.	.	.	.	G	9.136	1.012699	0.19277	.	.	ENSG00000163017	ENST00000409731;ENST00000345517;ENST00000409624	D;D;D	0.94576	-3.46;-3.46;-3.46	4.59	2.77	0.32553	.	0.000000	0.85682	D	0.000000	D	0.96790	0.8952	M	0.83118	2.625	0.40500	D	0.980633	D;D	0.65815	0.995;0.969	D;D	0.68943	0.961;0.929	D	0.96484	0.9358	10	0.87932	D	0	.	12.7573	0.57343	0.1562:0.0:0.8438:0.0	.	204;247	E9PG30;P63267	.;ACTH_HUMAN	H	204;247;247	ENSP00000386929:Q204H;ENSP00000295137:Q247H;ENSP00000386857:Q247H	ENSP00000295137:Q247H	Q	+	3	2	ACTG2	73995442	1.000000	0.71417	1.000000	0.80357	0.236000	0.25371	6.241000	0.72369	0.278000	0.22164	-1.598000	0.00824	CAG		0.552	ACTG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328086.1	NM_001615	
SLC4A5	57835	hgsc.bcm.edu	37	2	74466642	74466642	+	Silent	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:74466642T>C	ENST00000377634.4	-	21	2538	c.2139A>G	c.(2137-2139)acA>acG	p.T713T	SLC4A5_ENST00000394019.2_Silent_p.T713T|SLC4A5_ENST00000346834.4_Silent_p.T713T|SLC4A5_ENST00000357822.5_Silent_p.T713T|SLC4A5_ENST00000359484.4_Silent_p.T649T|SLC4A5_ENST00000377632.1_Silent_p.T713T|SLC4A5_ENST00000423644.1_Silent_p.T713T|SLC4A5_ENST00000358683.4_Silent_p.T649T|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000483195.1_5'UTR					solute carrier family 4 (sodium bicarbonate cotransporter), member 5									p.T713T(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGTCCAACGCTGTGAGGTTAA	0.562																																					p.T713T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2139G	2						.						78.0	74.0	75.0					2																	74466642		2203	4300	6503	74320150	SO:0001819	synonymous_variant	57835	exon16			AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.2139A>G	2.37:g.74466642T>C		Somatic		Capture	SOLID	Phase_I	74320150	NM_021196		Silent	SNP	ENST00000377634.4	37	CCDS1936.1																																																																																				0.562	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3		
SLC4A5	57835	hgsc.bcm.edu	37	2	74477487	74477487	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:74477487C>T	ENST00000377634.4	-	17	2035	c.1636G>A	c.(1636-1638)Gcc>Acc	p.A546T	SLC4A5_ENST00000394019.2_Missense_Mutation_p.A546T|SLC4A5_ENST00000346834.4_Missense_Mutation_p.A546T|SLC4A5_ENST00000357822.5_Missense_Mutation_p.A546T|SLC4A5_ENST00000359484.4_Missense_Mutation_p.A482T|SLC4A5_ENST00000377632.1_Missense_Mutation_p.A546T|SLC4A5_ENST00000423644.1_Missense_Mutation_p.A546T|SLC4A5_ENST00000358683.4_Missense_Mutation_p.A482T|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000483195.1_5'UTR					solute carrier family 4 (sodium bicarbonate cotransporter), member 5									p.A546T(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TTGTCGGTGGCATCCCCCAGA	0.532											OREG0014716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A546T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1636A	2						.						92.0	90.0	91.0					2																	74477487		2203	4300	6503	74330995	SO:0001583	missense	57835	exon12			AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.1636G>A	2.37:g.74477487C>T	ENSP00000366861:p.Ala546Thr	Somatic	1153	Capture	SOLID	Phase_I	74330995	NM_021196		Missense_Mutation	SNP	ENST00000377634.4	37	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	C	34	5.382780	0.95967	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249	T;T;T;T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37	5.65	5.65	0.86999	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91355	0.7273	M	0.88704	2.975	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	0.97110	0.998;1.0;1.0;1.0;0.974	D	0.92188	0.5757	10	0.87932	D	0	.	17.2626	0.87075	0.0:1.0:0.0:0.0	.	546;546;482;546;546	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	T	546;546;546;482;546;482;546;546;546;546	ENSP00000377587:A546T;ENSP00000251768:A546T;ENSP00000352461:A482T;ENSP00000395804:A546T;ENSP00000351513:A482T;ENSP00000350475:A546T;ENSP00000366859:A546T;ENSP00000366861:A546T;ENSP00000405678:A546T	ENSP00000251768:A546T	A	-	1	0	SLC4A5	74330995	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.651000	0.83577	2.941000	0.99782	0.655000	0.94253	GCC		0.532	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3		
REG1B	5968	hgsc.bcm.edu	37	2	79314033	79314033	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:79314033G>A	ENST00000305089.3	-	3	168	c.88C>T	c.(88-90)Cct>Tct	p.P30S		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	30					cell proliferation (GO:0008283)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)	p.P30S(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						CGGGGATTAGGCAGCTCTGTC	0.498																																					p.P30S												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C88T	2						.						122.0	125.0	124.0					2																	79314033		2203	4300	6503	79167541	SO:0001583	missense	5968	exon3				CCDS1963.1	2p12	2008-06-04	2008-06-04		ENSG00000172023	ENSG00000172023			9952	protein-coding gene	gene with protein product	"""lithostathine 1 beta"", ""secretory pancreatic stone protein 2"""	167771	"""regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)"""			8110835	Standard	NM_006507		Approved	REGL, PSPS2, REGH, REGI-BETA	uc002sny.2	P48304	OTTHUMG00000130019	ENST00000305089.3:c.88C>T	2.37:g.79314033G>A	ENSP00000303206:p.Pro30Ser	Somatic		Capture	SOLID	Phase_I	79167541	NM_006507		Missense_Mutation	SNP	ENST00000305089.3	37	CCDS1963.1	.	.	.	.	.	.	.	.	.	.	g	10.31	1.315323	0.23908	.	.	ENSG00000172023	ENST00000305089	T	0.08370	3.1	3.74	0.74	0.18330	C-type lectin-like (1);	0.262066	0.20382	N	0.093425	T	0.09905	0.0243	M	0.79805	2.47	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.06405	0.002;0.001	T	0.26744	-1.0094	10	0.37606	T	0.19	.	3.3093	0.07011	0.2326:0.0:0.5649:0.2026	.	30;30	Q6ICS1;P48304	.;REG1B_HUMAN	S	30	ENSP00000303206:P30S	ENSP00000303206:P30S	P	-	1	0	REG1B	79167541	0.000000	0.05858	0.000000	0.03702	0.344000	0.29017	-0.339000	0.07832	0.026000	0.15269	0.561000	0.74099	CCT		0.498	REG1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252292.2	NM_006507	
SUCLG1	8802	hgsc.bcm.edu	37	2	84668527	84668527	+	Silent	SNP	A	A	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:84668527A>C	ENST00000393868.2	-	4	585	c.375T>G	c.(373-375)gcT>gcG	p.A125A		NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	125					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)	p.A125A(1)		kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	TGGCAGCAGCAGCAAAAGGCG	0.438																																					p.A125A	Ovarian(48;203 1101 37206 40305 50790)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T375G	2						.						68.0	68.0	68.0					2																	84668527		2203	4300	6503	84522038	SO:0001819	synonymous_variant	8802	exon4			Z68204	CCDS1967.2	2p11.3	2008-02-05	2008-01-08		ENSG00000163541	ENSG00000163541	6.2.1.4		11449	protein-coding gene	gene with protein product		611224	"""succinate-CoA ligase, GDP-forming, alpha subunit"""			9128182	Standard	NM_003849		Approved		uc002son.3	P53597	OTTHUMG00000130023	ENST00000393868.2:c.375T>G	2.37:g.84668527A>C		Somatic		Capture	SOLID	Phase_I	84522038	NM_003849	Q9BWB0|Q9UNP6	Silent	SNP	ENST00000393868.2	37	CCDS1967.2																																																																																				0.438	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252298.2	NM_003849	
VAMP5	10791	hgsc.bcm.edu	37	2	85818866	85818866	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:85818866C>T	ENST00000306384.4	+	2	105	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W		NM_006634.2	NP_006625.1	O95183	VAMP5_HUMAN	vesicle-associated membrane protein 5	8	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				cell differentiation (GO:0030154)|Golgi to plasma membrane protein transport (GO:0043001)|muscle organ development (GO:0007517)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.R8W(1)		NS(1)|large_intestine(3)|lung(1)	5						AGAGTTGGAGCGGTGCCAGCA	0.602																																					p.R8W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C22T	2						.						99.0	86.0	90.0					2																	85818866		2203	4300	6503	85672377	SO:0001583	missense	10791	exon2			AF054825	CCDS1980.1	2p11.2	2013-02-13	2012-10-17		ENSG00000168899	ENSG00000168899		"""Vesicle-associated membrane proteins"""	12646	protein-coding gene	gene with protein product	"""myobrevin"""	607029				9725904	Standard	NM_006634		Approved		uc002spu.1	O95183	OTTHUMG00000130169	ENST00000306384.4:c.22C>T	2.37:g.85818866C>T	ENSP00000305647:p.Arg8Trp	Somatic		Capture	SOLID	Phase_I	85672377	NM_006634	Q9P0T2	Missense_Mutation	SNP	ENST00000306384.4	37	CCDS1980.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966516	0.74131	.	.	ENSG00000168899	ENST00000306384	T	0.46451	0.87	4.84	3.86	0.44501	Synaptobrevin (2);	0.510677	0.16936	N	0.193481	T	0.58163	0.2103	M	0.78456	2.415	0.26041	N	0.981608	D	0.76494	0.999	P	0.57846	0.828	T	0.52895	-0.8514	10	0.87932	D	0	.	11.017	0.47696	0.199:0.801:0.0:0.0	.	8	O95183	VAMP5_HUMAN	W	8	ENSP00000305647:R8W	ENSP00000305647:R8W	R	+	1	2	VAMP5	85672377	0.838000	0.29461	0.993000	0.49108	0.993000	0.82548	1.643000	0.37217	2.240000	0.73641	0.561000	0.74099	CGG		0.602	VAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252484.2	NM_006634	
HDLBP	3069	hgsc.bcm.edu	37	2	242194897	242194898	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	TC	TC	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:242194897_242194898delTC	ENST00000391975.1	-	8	1198_1199	c.971_972delGA	c.(970-972)agafs	p.R324fs	HDLBP_ENST00000391976.2_Frame_Shift_Del_p.R324fs|HDLBP_ENST00000310931.4_Frame_Shift_Del_p.R324fs|HDLBP_ENST00000427183.2_Intron	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	324	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)	p.R324fs*6(1)		breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		AAACTCCAGTTCTCTCAAGGAT	0.46																																					p.324_324del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.971_972del	2						.																																			241843571	SO:0001589	frameshift_variant	3069	exon8				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.971_972delGA	2.37:g.242194901_242194902delTC	ENSP00000375836:p.Arg324fs	Somatic		Capture	SOLID	Phase_I	241843570	NM_005336	B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Frame_Shift_Del	DEL	ENST00000391975.1	37	CCDS2547.1																																																																																				0.460	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346	
FARP2	9855	hgsc.bcm.edu	37	2	242403385	242403385	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr2:242403385G>A	ENST00000264042.3	+	17	2053	c.1883G>A	c.(1882-1884)cGc>cAc	p.R628H	FARP2_ENST00000373287.4_Missense_Mutation_p.R628H|FARP2_ENST00000545004.1_Missense_Mutation_p.R628H	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	628	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R628H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		AGGAACATGCGCCAGTTAAAG	0.507																																					p.R628H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1883A	2						.						114.0	86.0	96.0					2																	242403385		2203	4300	6503	242052058	SO:0001583	missense	9855	exon17			AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.1883G>A	2.37:g.242403385G>A	ENSP00000264042:p.Arg628His	Somatic		Capture	SOLID	Phase_I	242052058	NM_014808	B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	CCDS33424.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.268|2.268	-0.367778|-0.367778	0.05069|0.05069	.|.	.|.	ENSG00000006607|ENSG00000006607	ENST00000422951|ENST00000264042;ENST00000545004;ENST00000373287	.|T;T;T	.|0.63580	.|-0.03;-0.05;-0.05	5.1|5.1	-6.2|-6.2	0.02072|0.02072	.|Dbl homology (DH) domain (5);	.|0.757438	.|0.12907	.|N	.|0.429254	T|T	0.32285|0.32285	0.0824|0.0824	N|N	0.10916|0.10916	0.065|0.065	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.11235	.|0.003;0.003;0.004	.|B;B;B	.|0.06405	.|0.001;0.002;0.002	T|T	0.08166|0.08166	-1.0735|-1.0735	5|10	.|0.33141	.|T	.|0.24	.|.	6.0602|6.0602	0.19835|0.19835	0.4239:0.0:0.3214:0.2547|0.4239:0.0:0.3214:0.2547	.|.	.|628;628;628	.|O94887-2;F5GZ84;O94887	.|.;.;FARP2_HUMAN	T|H	69|628	.|ENSP00000264042:R628H;ENSP00000443876:R628H;ENSP00000362384:R628H	.|ENSP00000264042:R628H	A|R	+|+	1|2	0|0	FARP2|FARP2	242052058|242052058	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.023000|0.023000	0.10783|0.10783	-0.082000|-0.082000	0.11304|0.11304	-1.604000|-1.604000	0.01595|0.01595	-2.995000|-2.995000	0.00078|0.00078	GCC|CGC		0.507	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1		
INVS	27130	hgsc.bcm.edu	37	9	103060280	103060280	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr9:103060280C>T	ENST00000262457.2	+	16	3264	c.3079C>T	c.(3079-3081)Cgt>Tgt	p.R1027C	INVS_ENST00000541287.1_Missense_Mutation_p.R931C|INVS_ENST00000262456.2_Missense_Mutation_p.R857C	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	1027					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.R1027C(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				TTCTGTGCTGCGTCTCAACTC	0.443																																					p.R857C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2569T	9						.						95.0	90.0	91.0					9																	103060280		2203	4300	6503	102100101	SO:0001583	missense	27130	exon17			AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"""Ankyrin repeat domain containing"""	17870	protein-coding gene	gene with protein product	"""nephrocystin 2"""	243305	"""nephronophthisis 2 (infantile)"""	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.3079C>T	9.37:g.103060280C>T	ENSP00000262457:p.Arg1027Cys	Somatic		Capture	SOLID	Phase_I	102100101	NM_183245	A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Missense_Mutation	SNP	ENST00000262457.2	37	CCDS6746.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.308150	0.23821	.	.	ENSG00000119509	ENST00000262457;ENST00000541287;ENST00000262456	T;T;T	0.45668	0.89;1.01;0.92	4.96	3.1	0.35709	.	0.934954	0.09140	N	0.843055	T	0.36880	0.0983	L	0.29908	0.895	0.31063	N	0.71387	D;P;B	0.65815	0.995;0.876;0.001	P;B;B	0.46975	0.533;0.232;0.001	T	0.36163	-0.9759	10	0.66056	D	0.02	.	8.5179	0.33257	0.0:0.753:0.1642:0.0828	.	931;1027;857	F5GZH2;Q9Y283;Q9Y283-2	.;INVS_HUMAN;.	C	1027;931;857	ENSP00000262457:R1027C;ENSP00000444454:R931C;ENSP00000262456:R857C	ENSP00000262456:R857C	R	+	1	0	INVS	102100101	0.001000	0.12720	0.918000	0.36340	0.278000	0.26855	0.226000	0.17776	0.783000	0.33636	-0.266000	0.10368	CGT		0.443	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053407.1	NM_014425	
ALDOB	229	hgsc.bcm.edu	37	9	104189764	104189764	+	Splice_Site	SNP	C	C	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr9:104189764C>A	ENST00000374855.4	-	5	664	c.540G>T	c.(538-540)caG>caT	p.Q180H	ALDOB_ENST00000468981.3_Intron	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	180					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)	p.Q180H(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				GGCAGAGCACCTGCTGACAGA	0.512																																					p.Q180H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G540T	9						.						67.0	56.0	60.0					9																	104189764		2203	4300	6503	103229585	SO:0001630	splice_region_variant	229	exon5			X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.540+1G>T	9.37:g.104189764C>A		Somatic		Capture	SOLID	Phase_I	103229585	NM_000035	Q13741|Q13742|Q5T7D6	Missense_Mutation	SNP	ENST00000374855.4	37	CCDS6756.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.306001	0.81247	.	.	ENSG00000136872	ENST00000374855;ENST00000374853;ENST00000430164	D	0.86497	-2.13	6.17	6.17	0.99709	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.89560	0.6750	M	0.87617	2.895	0.80722	D	1	B	0.25272	0.122	B	0.22753	0.041	D	0.85483	0.1180	9	.	.	.	-28.6453	19.8676	0.96824	0.0:1.0:0.0:0.0	.	180	P05062	ALDOB_HUMAN	H	180;107;180	ENSP00000363988:Q180H	.	Q	-	3	2	ALDOB	103229585	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CAG		0.512	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053434.2		Missense_Mutation
UGCG	7357	hgsc.bcm.edu	37	9	114691849	114691849	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr9:114691849G>T	ENST00000374279.3	+	6	1078	c.628G>T	c.(628-630)Gga>Tga	p.G210*	UGCG_ENST00000495085.1_3'UTR|MIR4668_ENST00000582284.1_RNA	NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	210					epidermis development (GO:0008544)|glucosylceramide biosynthetic process (GO:0006679)|glycosphingolipid biosynthetic process (GO:0006688)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ceramide glucosyltransferase activity (GO:0008120)	p.G210*(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	ATGTGTGACAGGAATGTCTTG	0.378																																					p.G210X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G628T	9						.						156.0	146.0	150.0					9																	114691849		2203	4300	6503	113731670	SO:0001587	stop_gained	7357	exon6			D50840	CCDS6782.1	9q31	2014-03-13			ENSG00000148154	ENSG00000148154	2.4.1.80	"""Glycosyltransferase family 2 domain containing"""	12524	protein-coding gene	gene with protein product	"""glucosylceramide synthase"", ""ceramide glucosyltransferase"""	602874				8643456, 9605861	Standard	NM_003358		Approved	GCS	uc004bft.3	Q16739	OTTHUMG00000020498	ENST00000374279.3:c.628G>T	9.37:g.114691849G>T	ENSP00000363397:p.Gly210*	Somatic		Capture	SOLID	Phase_I	113731670	NM_003358	Q5T258	Nonsense_Mutation	SNP	ENST00000374279.3	37	CCDS6782.1	.	.	.	.	.	.	.	.	.	.	G	42	9.375521	0.99153	.	.	ENSG00000148154	ENST00000374279	.	.	.	6.04	6.04	0.98038	.	0.096045	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	.	.	.	X	210	.	ENSP00000363397:G210X	G	+	1	0	UGCG	113731670	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.750000	0.98875	2.873000	0.98535	0.563000	0.77884	GGA		0.378	UGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053661.1	NM_003358	
TNC	3371	hgsc.bcm.edu	37	9	117848313	117848313	+	Missense_Mutation	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr9:117848313T>C	ENST00000350763.4	-	3	2108	c.1697A>G	c.(1696-1698)gAc>gGc	p.D566G	TNC_ENST00000423613.2_Missense_Mutation_p.D566G|TNC_ENST00000340094.3_Missense_Mutation_p.D566G|TNC_ENST00000537320.1_Missense_Mutation_p.D566G|TNC_ENST00000535648.1_Missense_Mutation_p.D566G|TNC_ENST00000345230.3_Missense_Mutation_p.D566G|TNC_ENST00000341037.4_Missense_Mutation_p.D566G|TNC_ENST00000542877.1_Missense_Mutation_p.D566G|TNC_ENST00000346706.3_Missense_Mutation_p.D566G	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	566	EGF-like 14. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.D566G(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GCCATGACAGTCACTGGGACA	0.602																																					p.D566G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1697G	9						.						106.0	74.0	85.0					9																	117848313		2203	4300	6503	116888134	SO:0001583	missense	3371	exon3				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.1697A>G	9.37:g.117848313T>C	ENSP00000265131:p.Asp566Gly	Somatic		Capture	SOLID	Phase_I	116888134	NM_002160	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	T	16.25	3.068830	0.55539	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.03301	3.98;3.98;3.98;3.98;3.98;3.98;3.98;3.98;3.98	5.95	5.95	0.96441	EGF, extracellular (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.084304	0.85682	D	0.000000	T	0.12008	0.0292	M	0.75884	2.315	0.49299	D	0.999777	P;P	0.51537	0.946;0.773	P;P	0.52309	0.695;0.519	T	0.00153	-1.1982	10	0.72032	D	0.01	.	12.8694	0.57957	0.0:0.0:0.1357:0.8643	.	566;566	E9PC84;P24821	.;TENA_HUMAN	G	566	ENSP00000344400:D566G;ENSP00000438152:D566G;ENSP00000344555:D566G;ENSP00000345861:D566G;ENSP00000265131:D566G;ENSP00000339553:D566G;ENSP00000411406:D566G;ENSP00000443478:D566G;ENSP00000442242:D566G	ENSP00000344400:D566G	D	-	2	0	TNC	116888134	1.000000	0.71417	0.997000	0.53966	0.711000	0.40976	4.233000	0.58651	2.276000	0.75962	0.460000	0.39030	GAC		0.602	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160	
PTGS1	5742	hgsc.bcm.edu	37	9	125143682	125143682	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr9:125143682G>A	ENST00000362012.2	+	6	534	c.529G>A	c.(529-531)Gcc>Acc	p.A177T	PTGS1_ENST00000373698.5_Missense_Mutation_p.A68T|PTGS1_ENST00000223423.4_Missense_Mutation_p.A177T|PTGS1_ENST00000540753.1_Missense_Mutation_p.A152T	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	177					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)	p.A177T(1)		large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	CCAGCTCCTGGCCCGCCGCTT	0.562																																					p.A177T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G529A	9						.						41.0	42.0	41.0					9																	125143682		2202	4300	6502	124183503	SO:0001583	missense	5742	exon6			M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.529G>A	9.37:g.125143682G>A	ENSP00000354612:p.Ala177Thr	Somatic		Capture	SOLID	Phase_I	124183503	NM_000962	A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Missense_Mutation	SNP	ENST00000362012.2	37	CCDS6842.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.257310	0.39896	.	.	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423;ENST00000373698	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	5.16	1.78	0.24846	.	0.793732	0.12224	N	0.488129	T	0.61615	0.2361	L	0.51422	1.61	0.36313	D	0.85775	B;B;B	0.12013	0.001;0.005;0.004	B;B;B	0.24269	0.006;0.052;0.031	T	0.59279	-0.7484	10	0.49607	T	0.09	-2.1804	12.0146	0.53307	0.1704:0.0:0.8296:0.0	.	152;177;177	B4DHQ2;P23219;P23219-2	.;PGH1_HUMAN;.	T	152;177;177;68	ENSP00000437709:A152T;ENSP00000354612:A177T;ENSP00000223423:A177T;ENSP00000362802:A68T	ENSP00000223423:A177T	A	+	1	0	PTGS1	124183503	1.000000	0.71417	0.235000	0.24058	0.929000	0.56500	3.354000	0.52254	0.091000	0.17302	-0.258000	0.10820	GCC		0.562	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1		
RABEPK	10244	hgsc.bcm.edu	37	9	127995023	127995023	+	Splice_Site	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr9:127995023A>G	ENST00000373538.3	+	7	1135	c.825A>G	c.(823-825)acA>acG	p.T275T	RABEPK_ENST00000394125.4_Splice_Site_p.T275T|RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000259460.8_Splice_Site_p.T224T	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	275					receptor-mediated endocytosis (GO:0006898)|vesicle docking involved in exocytosis (GO:0006904)	endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)		p.T275T(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						AGTATCACACAGGTGAGCAGG	0.512																																					p.T275T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A825G	9						.						49.0	48.0	48.0					9																	127995023		2203	4300	6503	127034844	SO:0001630	splice_region_variant	10244	exon7			BC000503	CCDS6862.1, CCDS55341.1	9q33.1-q33.3	2010-04-19			ENSG00000136933	ENSG00000136933			16896	protein-coding gene	gene with protein product		605962				9230071	Standard	NM_005833		Approved	RAB9P40, bA65N13.1	uc004bpi.3	Q7Z6M1	OTTHUMG00000020674	ENST00000373538.3:c.826+1A>G	9.37:g.127995023A>G		Somatic		Capture	SOLID	Phase_I	127034844	NM_005833	A8K403|O00568|Q69YR2|Q6FHA4|Q6IBG7|Q6P092|Q86Y76|Q9BWB1	Silent	SNP	ENST00000373538.3	37	CCDS6862.1																																																																																				0.512	RABEPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054064.1	NM_005833	Silent
ZBTB43	23099	hgsc.bcm.edu	37	9	129595671	129595671	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr9:129595671G>A	ENST00000373464.4	+	3	1147	c.883G>A	c.(883-885)Gag>Aag	p.E295K	ZBTB43_ENST00000373457.1_Missense_Mutation_p.E295K|ZBTB43_ENST00000449886.1_Missense_Mutation_p.E295K	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	295					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E295K(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						CCACATCGGGGAGAAGAAAGT	0.527																																					p.E295K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G883A	9						.						64.0	62.0	63.0					9																	129595671		2203	4300	6503	128635492	SO:0001583	missense	23099	exon2			AF049907	CCDS6867.1	9q33.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000169155	ENSG00000169155		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	17908	protein-coding gene	gene with protein product			"""zinc finger protein 297B"""	ZNF297B			Standard	NM_014007		Approved	KIAA0414, ZNF-X, FLJ22470, ZBTB22B	uc010mxf.3	O43298	OTTHUMG00000020693	ENST00000373464.4:c.883G>A	9.37:g.129595671G>A	ENSP00000362563:p.Glu295Lys	Somatic		Capture	SOLID	Phase_I	128635492	NM_001135776	Q5JU96	Missense_Mutation	SNP	ENST00000373464.4	37	CCDS6867.1	.	.	.	.	.	.	.	.	.	.	G	5.440	0.266335	0.10294	.	.	ENSG00000169155	ENST00000449886;ENST00000373464;ENST00000373457	T;T;T	0.10382	2.88;2.88;2.88	5.51	4.61	0.57282	.	0.152719	0.46442	D	0.000286	T	0.07818	0.0196	N	0.14661	0.345	0.21762	N	0.999558	B	0.09022	0.002	B	0.06405	0.002	T	0.25328	-1.0135	10	0.41790	T	0.15	.	14.7454	0.69488	0.07:0.0:0.93:0.0	.	295	O43298	ZBT43_HUMAN	K	295	ENSP00000390344:E295K;ENSP00000362563:E295K;ENSP00000362556:E295K	ENSP00000362556:E295K	E	+	1	0	ZBTB43	128635492	1.000000	0.71417	0.949000	0.38748	0.302000	0.27658	8.333000	0.90026	1.464000	0.47987	0.462000	0.41574	GAG		0.527	ZBTB43-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054124.1	NM_001135776	
ANGPTL2	23452	hgsc.bcm.edu	37	9	129856058	129856058	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr9:129856058C>T	ENST00000373425.3	-	3	1582	c.965G>A	c.(964-966)cGc>cAc	p.R322H	ANGPTL2_ENST00000373417.1_Missense_Mutation_p.R20H|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000424082.2_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	322	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)	p.R322H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						GCCATCCAGGCGTCTCTGGAT	0.607																																					p.R322H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G965A	9						.						103.0	100.0	101.0					9																	129856058		2203	4300	6503	128895879	SO:0001583	missense	23452	exon3			AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"""Fibrinogen C domain containing"""	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.965G>A	9.37:g.129856058C>T	ENSP00000362524:p.Arg322His	Somatic		Capture	SOLID	Phase_I	128895879	NM_012098	Q5JT58|Q8NCH7	Missense_Mutation	SNP	ENST00000373425.3	37	CCDS6868.1	.	.	.	.	.	.	.	.	.	.	C	36	5.598280	0.96614	.	.	ENSG00000136859	ENST00000373425;ENST00000373417	D;D	0.86030	-2.06;-2.06	5.04	5.04	0.67666	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.94961	0.8370	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96360	0.9265	10	0.87932	D	0	.	18.7427	0.91780	0.0:1.0:0.0:0.0	.	322	Q9UKU9	ANGL2_HUMAN	H	322;20	ENSP00000362524:R322H;ENSP00000362516:R20H	ENSP00000362516:R20H	R	-	2	0	ANGPTL2	128895879	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.500000	0.84329	0.655000	0.94253	CGC		0.607	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054129.1	NM_012098	
DNM1	1759	hgsc.bcm.edu	37	9	130986586	130986586	+	Missense_Mutation	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr9:130986586A>G	ENST00000372923.3	+	10	1345	c.1253A>G	c.(1252-1254)aAg>aGg	p.K418R	DNM1_ENST00000475805.1_Intron|DNM1_ENST00000393594.3_Intron|DNM1_ENST00000341179.7_Missense_Mutation_p.K418R|DNM1_ENST00000486160.1_Intron	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	418					endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.K418R(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						AAGCAGGTGAAGAAGATCCGA	0.557																																					p.K418R	GBM(113;146 1575 2722 28670 29921)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1253G	9						.						131.0	116.0	121.0					9																	130986586		2203	4300	6503	130026407	SO:0001583	missense	1759	exon10			L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.1253A>G	9.37:g.130986586A>G	ENSP00000362014:p.Lys418Arg	Somatic		Capture	SOLID	Phase_I	130026407	NM_001005336	A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	ENST00000372923.3	37	CCDS6895.1	.	.	.	.	.	.	.	.	.	.	A	13.29	2.193966	0.38707	.	.	ENSG00000106976	ENST00000341179;ENST00000372923;ENST00000393589	T;T	0.74632	-0.86;-0.86	5.48	5.48	0.80851	Dynamin central domain (1);Pleckstrin homology-type (1);	0.236945	0.44285	D	0.000461	T	0.57125	0.2032	N	0.05487	-0.04	0.80722	D	1	B;B	0.21821	0.061;0.02	B;B	0.22152	0.038;0.023	T	0.54403	-0.8299	10	0.30854	T	0.27	-17.4746	15.5799	0.76425	1.0:0.0:0.0:0.0	.	418;418	Q05193;Q05193-3	DYN1_HUMAN;.	R	418;418;413	ENSP00000345680:K418R;ENSP00000362014:K418R	ENSP00000345680:K418R	K	+	2	0	DNM1	130026407	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.882000	0.48546	2.079000	0.62486	0.454000	0.30748	AAG		0.557	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	NM_004408	
CRAT	1384	hgsc.bcm.edu	37	9	131870139	131870139	+	Missense_Mutation	SNP	C	C	T	rs200481540		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr9:131870139C>T	ENST00000318080.2	-	2	539	c.245G>A	c.(244-246)cGc>cAc	p.R82H	AL158151.2_ENST00000408594.1_RNA|CRAT_ENST00000393384.3_Missense_Mutation_p.R82H|CRAT_ENST00000464290.1_5'UTR	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	82					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)	p.R82H(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	CTTCTGCAGGCGCTCCCCTAC	0.622													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18655	0.0		0.0	False		,,,				2504	0.0				p.R82H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G245A	9						.						74.0	63.0	67.0					9																	131870139		2203	4300	6503	130909960	SO:0001583	missense	1384	exon2			X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"""carnitine acetyltransferase"""			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.245G>A	9.37:g.131870139C>T	ENSP00000315013:p.Arg82His	Somatic		Capture	SOLID	Phase_I	130909960	NM_000755	Q5T952|Q9BW16	Missense_Mutation	SNP	ENST00000318080.2	37	CCDS6919.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	17.46	3.395302	0.62066	.	.	ENSG00000095321	ENST00000351352;ENST00000318080;ENST00000393384	D;D	0.89746	-2.56;-2.56	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.94066	0.8098	M	0.76838	2.35	0.54753	D	0.999989	D;D	0.71674	0.998;0.987	D;P	0.67725	0.953;0.516	D	0.94352	0.7580	10	0.56958	D	0.05	-26.4891	17.6342	0.88117	0.0:1.0:0.0:0.0	.	82;82	A6PVN3;P43155	.;CACP_HUMAN	H	82	ENSP00000315013:R82H;ENSP00000377045:R82H	ENSP00000315013:R82H	R	-	2	0	CRAT	130909960	1.000000	0.71417	0.989000	0.46669	0.036000	0.12997	4.773000	0.62331	2.399000	0.81585	0.556000	0.70494	CGC		0.622	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253700.1		
TOR1B	27348	hgsc.bcm.edu	37	9	132569589	132569589	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr9:132569589C>T	ENST00000259339.2	+	3	648	c.588C>T	c.(586-588)taC>taT	p.Y196Y		NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)	196					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum organization (GO:0007029)|nuclear membrane organization (GO:0071763)|protein homooligomerization (GO:0051260)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.Y196Y(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				TTCTAGACTACTACGAGCAGG	0.493																																					p.Y196Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C588T	9						.						202.0	193.0	196.0					9																	132569589		2203	4300	6503	131609410	SO:0001819	synonymous_variant	27348	exon3			AF007872	CCDS6929.1	9q34	2008-07-21			ENSG00000136816	ENSG00000136816			11995	protein-coding gene	gene with protein product		608050				9288096, 10644435	Standard	NM_014506		Approved	DQ1, MGC4386	uc004byk.1	O14657	OTTHUMG00000020795	ENST00000259339.2:c.588C>T	9.37:g.132569589C>T		Somatic		Capture	SOLID	Phase_I	131609410	NM_014506		Silent	SNP	ENST00000259339.2	37	CCDS6929.1																																																																																				0.493	TOR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054615.1	NM_014506	
TOR1A	1861	hgsc.bcm.edu	37	9	132584909	132584909	+	Missense_Mutation	SNP	A	A	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr9:132584909A>C	ENST00000351698.4	-	2	443	c.395T>G	c.(394-396)tTt>tGt	p.F132C	TOR1A_ENST00000473084.1_5'UTR	NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	132	Interaction with SNAPIN.				ATP catabolic process (GO:0006200)|cell adhesion (GO:0007155)|chaperone mediated protein folding requiring cofactor (GO:0051085)|chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|ER-associated misfolded protein catabolic process (GO:0071712)|intermediate filament cytoskeleton organization (GO:0045104)|neuron projection development (GO:0031175)|nuclear envelope organization (GO:0006998)|nuclear membrane organization (GO:0071763)|organelle organization (GO:0006996)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|protein deneddylation (GO:0000338)|protein homooligomerization (GO:0051260)|protein localization to nucleus (GO:0034504)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of protein localization to cell surface (GO:2000008)|response to oxidative stress (GO:0006979)|synaptic vesicle transport (GO:0048489)|wound healing, spreading of cells (GO:0044319)	cell junction (GO:0030054)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cytoskeletal protein binding (GO:0008092)|kinesin binding (GO:0019894)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				TGTGGCCACAAACAGGTGGAC	0.498																																					p.F132C												.	.	0			c.T395G	9						.						170.0	136.0	147.0					9																	132584909		2203	4300	6503	131624730	SO:0001583	missense	1861	exon2			AF007871	CCDS6930.1	9q32-q34	2008-07-21	2004-11-24	2004-11-26	ENSG00000136827	ENSG00000136827			3098	protein-coding gene	gene with protein product		605204	"""dystonia 1, torsion (autosomal dominant; torsin A)"""	DYT1		10644435	Standard	NM_000113		Approved	DQ2	uc004byl.3	O14656	OTTHUMG00000020794	ENST00000351698.4:c.395T>G	9.37:g.132584909A>C	ENSP00000345719:p.Phe132Cys	Somatic		Capture	SOLID	Phase_I	131624730	NM_000113	B2RB58|Q53Y64|Q96CA0	Missense_Mutation	SNP	ENST00000351698.4	37	CCDS6930.1	.	.	.	.	.	.	.	.	.	.	A	18.01	3.528775	0.64860	.	.	ENSG00000136827	ENST00000427355;ENST00000351698	T	0.54866	0.55	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.77239	0.4101	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.82665	-0.0345	10	0.87932	D	0	-6.7377	14.4684	0.67499	1.0:0.0:0.0:0.0	.	132;132	O14656-2;O14656	.;TOR1A_HUMAN	C	101;132	ENSP00000345719:F132C	ENSP00000345719:F132C	F	-	2	0	TOR1A	131624730	1.000000	0.71417	0.997000	0.53966	0.370000	0.29829	8.957000	0.93082	2.022000	0.59522	0.459000	0.35465	TTT		0.498	TOR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054611.1	NM_000113	
C9orf171	389799	hgsc.bcm.edu	37	9	135285806	135285806	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr9:135285806C>T	ENST00000343036.2	+	1	196	c.148C>T	c.(148-150)Ctg>Ttg	p.L50L	C9orf171_ENST00000393216.2_Silent_p.L50L|C9orf171_ENST00000393215.3_Silent_p.L50L	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	50								p.L50L(1)		large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						GAACGAGCGGCTGGGGGTCGT	0.711																																					p.L50L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C148T	9						.						21.0	17.0	18.0					9																	135285806		2139	4212	6351	134275627	SO:0001819	synonymous_variant	389799	exon1			AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.148C>T	9.37:g.135285806C>T		Somatic		Capture	SOLID	Phase_I	134275627	NM_207417	Q147X1	Silent	SNP	ENST00000343036.2	37	CCDS6949.1																																																																																				0.711	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254589.1	NM_207417	
MED22	6837	hgsc.bcm.edu	37	9	136211103	136211103	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr9:136211103G>A	ENST00000491289.1	-	4	871	c.290C>T	c.(289-291)gCc>gTc	p.A97V	MED22_ENST00000476080.1_Missense_Mutation_p.A97V|MED22_ENST00000471524.1_5'UTR|MED22_ENST00000344469.5_Missense_Mutation_p.A97V|MED22_ENST00000371999.1_Missense_Mutation_p.A91V|MED22_ENST00000343730.5_Missense_Mutation_p.A97V			Q15528	MED22_HUMAN	mediator complex subunit 22	97						cytoplasm (GO:0005737)|mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.A97V(2)		endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		CTGGTCAATGGCCTCGTTCAC	0.597																																					p.A97V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C290T	9						.						135.0	111.0	119.0					9																	136211103		2203	4300	6503	135200924	SO:0001583	missense	6837	exon4				CCDS6963.1, CCDS6964.1	9q34.1	2008-02-05	2007-07-30	2007-07-30	ENSG00000148297	ENSG00000148297			11477	protein-coding gene	gene with protein product		185641	"""surfeit 5"""	SURF5		8499913, 15175163	Standard	NM_133640		Approved	Med24	uc004cdc.3	Q15528	OTTHUMG00000020869	ENST00000491289.1:c.290C>T	9.37:g.136211103G>A	ENSP00000420393:p.Ala97Val	Somatic		Capture	SOLID	Phase_I	135200924	NM_181491	B3KW83|B3KWX4|O76072|Q5T8U0	Missense_Mutation	SNP	ENST00000491289.1	37	CCDS6963.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658664	0.67586	.	.	ENSG00000148297	ENST00000491289;ENST00000486395;ENST00000343730;ENST00000344469;ENST00000476080;ENST00000371999;ENST00000446777;ENST00000494177;ENST00000457204	.	.	.	5.08	5.08	0.68730	.	0.050061	0.85682	D	0.000000	T	0.65004	0.2650	M	0.64260	1.97	0.80722	D	1	P;B	0.35575	0.51;0.383	B;B	0.40228	0.311;0.323	T	0.65376	-0.6183	9	0.38643	T	0.18	-8.7468	17.4741	0.87655	0.0:0.0:1.0:0.0	.	97;97	Q15528-2;Q15528	.;MED22_HUMAN	V	97;97;97;97;97;91;97;97;97	.	ENSP00000342343:A97V	A	-	2	0	MED22	135200924	1.000000	0.71417	1.000000	0.80357	0.368000	0.29767	7.486000	0.81215	2.362000	0.80069	0.655000	0.94253	GCC		0.597	MED22-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054898.2	NM_133640	
DBH	1621	hgsc.bcm.edu	37	9	136508597	136508597	+	Silent	SNP	C	C	T	rs141816448	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr9:136508597C>T	ENST00000393056.2	+	4	819	c.807C>T	c.(805-807)tgC>tgT	p.C269C		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	269					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)	p.C269C(1)		central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	TCTTCCAGTGCGCCCCCGAGA	0.662													C|||	3	0.000599042	0.0	0.0	5008	,	,		14338	0.0		0.001	False		,,,				2504	0.002				p.C269C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C807T	9						.	C		1,4405	2.1+/-5.4	0,1,2202	78.0	76.0	77.0		807	-2.6	0.1	9	dbSNP_134	77	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	DBH	NM_000787.3		0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308		269/618	136508597	4,13002	2203	4300	6503	135498418	SO:0001819	synonymous_variant	1621	exon4			X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.807C>T	9.37:g.136508597C>T		Somatic		Capture	SOLID	Phase_I	135498418	NM_000787	Q5T381|Q96AG2	Silent	SNP	ENST00000393056.2	37	CCDS6977.2																																																																																				0.662	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787	
RFX3	5991	hgsc.bcm.edu	37	9	3225114	3225114	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr9:3225114G>A	ENST00000382004.3	-	18	2489	c.2178C>T	c.(2176-2178)agC>agT	p.S726S		NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	726					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.S726S(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		CAATGTGCTCGCTGTGAATTG	0.473																																					p.S726S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2178T	9						.						126.0	114.0	118.0					9																	3225114		2203	4300	6503	3215114	SO:0001819	synonymous_variant	5991	exon18			AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.2178C>T	9.37:g.3225114G>A		Somatic		Capture	SOLID	Phase_I	3215114	NM_134428	A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Silent	SNP	ENST00000382004.3	37	CCDS6449.1																																																																																				0.473	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919	
CD274	29126	hgsc.bcm.edu	37	9	5463028	5463028	+	Missense_Mutation	SNP	C	C	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr9:5463028C>G	ENST00000381577.3	+	4	675	c.589C>G	c.(589-591)Ctg>Gtg	p.L197V	CD274_ENST00000498261.1_Intron|CD274_ENST00000381573.4_Missense_Mutation_p.L83V	NM_014143.3	NP_054862.1	Q9NZQ7	PD1L1_HUMAN	CD274 molecule	197	Ig-like C2-type.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of T cell proliferation (GO:0042102)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L197V(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)		GACCAGCACACTGAGAATCAA	0.433			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																p.L197V			Dom	yes		9	9p24	29126	CD274 molecule		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C589G	9						.						139.0	126.0	130.0					9																	5463028		2203	4300	6503	5453028	SO:0001583	missense	29126	exon4			AF177937	CCDS6464.1, CCDS59118.1	9p24.1	2014-01-30	2006-03-28	2005-02-25	ENSG00000120217	ENSG00000120217		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Endogenous ligands"""	17635	protein-coding gene	gene with protein product	"""B7 homolog 1"""	605402	"""programmed cell death 1 ligand 1"", ""CD274 antigen"""	PDCD1LG1		11015443, 10581077	Standard	NM_014143		Approved	B7-H, B7H1, PD-L1, PDL1, B7-H1	uc003zje.3	Q9NZQ7	OTTHUMG00000019503	ENST00000381577.3:c.589C>G	9.37:g.5463028C>G	ENSP00000370989:p.Leu197Val	Somatic		Capture	SOLID	Phase_I	5453028	NM_014143	B2RBA2|B4DU27|Q14CJ2|Q2V8D5|Q66RK1|Q6WEX4|Q9NUZ5	Missense_Mutation	SNP	ENST00000381577.3	37	CCDS6464.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.553006	0.27739	.	.	ENSG00000120217	ENST00000381573;ENST00000381577	D;D	0.83673	-1.75;-1.75	6.08	4.18	0.49190	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.097074	0.45126	D	0.000381	D	0.89942	0.6861	M	0.80982	2.52	0.26046	N	0.981544	D;D	0.89917	1.0;0.989	D;D	0.87578	0.998;0.957	T	0.82870	-0.0243	10	0.87932	D	0	-25.6001	9.5856	0.39514	0.0:0.8355:0.0:0.1645	.	83;197	Q2V8D5;Q9NZQ7	.;PD1L1_HUMAN	V	83;197	ENSP00000370985:L83V;ENSP00000370989:L197V	ENSP00000370985:L83V	L	+	1	2	CD274	5453028	0.537000	0.26386	0.057000	0.19452	0.129000	0.20672	1.226000	0.32563	0.839000	0.34971	-0.345000	0.07892	CTG		0.433	CD274-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051631.2	NM_014143	
BNC2	54796	hgsc.bcm.edu	37	9	16436034	16436034	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr9:16436034G>A	ENST00000380672.4	-	6	2215	c.2158C>T	c.(2158-2160)Cgg>Tgg	p.R720W	BNC2_ENST00000545497.1_Missense_Mutation_p.R625W|BNC2_ENST00000380667.2_Missense_Mutation_p.R653W|BNC2_ENST00000380666.2_Missense_Mutation_p.R720W	NM_017637.5	NP_060107.3			basonuclin 2									p.R720W(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TCATAGTCCCGCTCAGGTTCT	0.502																																					p.R720W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2158T	9						.						111.0	105.0	107.0					9																	16436034		2203	4300	6503	16426034	SO:0001583	missense	54796	exon6			AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.2158C>T	9.37:g.16436034G>A	ENSP00000370047:p.Arg720Trp	Somatic		Capture	SOLID	Phase_I	16426034	NM_017637		Missense_Mutation	SNP	ENST00000380672.4	37	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	G	14.69	2.609679	0.46527	.	.	ENSG00000173068	ENST00000380672;ENST00000411752;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T;T	0.59772	1.1;0.24;1.07;1.14;1.13;1.07	5.57	4.6	0.57074	.	0.048258	0.85682	D	0.000000	T	0.55862	0.1947	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.71674	0.993;0.995;0.997;0.997;0.998;0.988;0.988;0.997;0.993	P;B;P;P;P;B;B;P;P	0.54372	0.616;0.412;0.707;0.707;0.75;0.412;0.412;0.684;0.568	T	0.59037	-0.7529	10	0.72032	D	0.01	-10.7469	11.1249	0.48312	0.0:0.0:0.5925:0.4074	.	625;653;720;546;720;677;720;625;485	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	W	720;113;677;653;625;546;720;720	ENSP00000370047:R720W;ENSP00000392212:R113W;ENSP00000408370:R677W;ENSP00000370042:R653W;ENSP00000444640:R625W;ENSP00000370041:R720W	ENSP00000370041:R720W	R	-	1	2	BNC2	16426034	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.482000	0.45224	2.622000	0.88805	0.655000	0.94253	CGG		0.502	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637	
IFNA2	3440	hgsc.bcm.edu	37	9	21384943	21384943	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr9:21384943G>A	ENST00000380206.2	-	1	453	c.386C>T	c.(385-387)aCa>aTa	p.T129I		NM_000605.3	NP_000596.2	P01563	IFNA2_HUMAN	interferon, alpha 2	129					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of T-helper 2 cell cytokine production (GO:2000552)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral entry into host cell (GO:0046597)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	type I interferon receptor binding (GO:0005132)	p.T129I(1)		breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		GGGAGTCTCTGTCACCCCCAC	0.498																																					p.T129I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C386T	9						.						163.0	165.0	164.0					9																	21384943		2203	4300	6503	21374943	SO:0001583	missense	3440	exon1				CCDS6506.1	9p22	2010-08-24			ENSG00000188379	ENSG00000188379		"""Interferons"""	5423	protein-coding gene	gene with protein product	"""alpha-2a interferon"", ""interferon alpha 2b"", ""interferon alpha A"""	147562				1385305	Standard	NM_000605		Approved	IFNA, IFN-alphaA	uc003zpb.3	P01563	OTTHUMG00000019674	ENST00000380206.2:c.386C>T	9.37:g.21384943G>A	ENSP00000369554:p.Thr129Ile	Somatic		Capture	SOLID	Phase_I	21374943	NM_000605	H2DF54|H2DF55|P01564|Q14606|Q6DJX8|Q96KI6	Missense_Mutation	SNP	ENST00000380206.2	37	CCDS6506.1	.	.	.	.	.	.	.	.	.	.	G	6.894	0.534523	0.13188	.	.	ENSG00000188379	ENST00000380206	T	0.03386	3.95	3.24	0.837	0.18896	.	1.788510	0.02488	N	0.089160	T	0.04861	0.0131	L	0.44542	1.39	0.09310	N	1	B	0.06786	0.001	B	0.17098	0.017	T	0.42982	-0.9419	10	0.56958	D	0.05	.	3.1856	0.06599	0.0:0.2623:0.2425:0.4952	.	129	Q6DJX8	.	I	129	ENSP00000369554:T129I	ENSP00000369554:T129I	T	-	2	0	IFNA2	21374943	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.146000	0.16180	-0.016000	0.14127	-0.516000	0.04426	ACA		0.498	IFNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051903.1	NM_000605	
TEK	7010	hgsc.bcm.edu	37	9	27180341	27180341	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr9:27180341G>A	ENST00000380036.4	+	7	1447	c.1005G>A	c.(1003-1005)tgG>tgA	p.W335*	TEK_ENST00000519097.1_Intron|TEK_ENST00000406359.4_Intron	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	335	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|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 focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.W335*(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	CTCCAGGATGGCAGGGGCTCC	0.507																																					p.W335X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1005A	9						.						99.0	77.0	85.0					9																	27180341		2203	4300	6503	27170341	SO:0001587	stop_gained	7010	exon7			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.1005G>A	9.37:g.27180341G>A	ENSP00000369375:p.Trp335*	Somatic		Capture	SOLID	Phase_I	27170341	NM_000459	A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Nonsense_Mutation	SNP	ENST00000380036.4	37	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	G	38	6.694222	0.97768	.	.	ENSG00000120156	ENST00000380036	.	.	.	4.9	-0.461	0.12172	.	0.701772	0.12436	N	0.469151	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.1585	0.03819	0.2628:0.1498:0.4705:0.1169	.	.	.	.	X	335	.	ENSP00000369375:W335X	W	+	3	0	TEK	27170341	1.000000	0.71417	0.984000	0.44739	0.632000	0.37999	2.305000	0.43664	-0.062000	0.13088	-0.355000	0.07637	TGG		0.507	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3		
NDUFB6	4712	hgsc.bcm.edu	37	9	32572964	32572964	+	Missense_Mutation	SNP	T	T	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr9:32572964T>A	ENST00000379847.3	-	1	196	c.95A>T	c.(94-96)gAg>gTg	p.E32V	NDUFB6_ENST00000350021.2_Missense_Mutation_p.E32V	NM_002493.4	NP_002484.1	O95139	NDUB6_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa	32					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.E32V(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	8			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00199)		CAGCACCGGCTCCCGAGGGCT	0.557											OREG0019131	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E32V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A95T	9						.						36.0	40.0	39.0					9																	32572964		2203	4300	6503	32562964	SO:0001583	missense	4712	exon1			AF035840	CCDS6528.1, CCDS6529.1, CCDS75826.1	9p13.2	2011-07-04	2002-08-29		ENSG00000165264	ENSG00000165264		"""Mitochondrial respiratory chain complex / Complex I"""	7701	protein-coding gene	gene with protein product	"""NADH-ubiquinone oxidoreductase beta subunit, 6"", ""NADH-ubiquinone oxidoreductase B17 subunit"", ""complex I, mitochondrial respiratory chain, B17 subunit"""	603322	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6 (17kD, B17)"""			9763677, 9760212	Standard	NM_002493		Approved	B17, CI	uc003zre.2	O95139	OTTHUMG00000019741	ENST00000379847.3:c.95A>T	9.37:g.32572964T>A	ENSP00000369176:p.Glu32Val	Somatic	833	Capture	SOLID	Phase_I	32562964	NM_002493	A8K0Y7|Q5VYT2|Q6IB84	Missense_Mutation	SNP	ENST00000379847.3	37	CCDS6528.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.032476	0.93575	.	.	ENSG00000165264	ENST00000379847;ENST00000350021	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.78291	0.4260	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.81161	-0.1059	9	0.87932	D	0	-18.6602	14.2949	0.66304	0.0:0.0:0.0:1.0	.	32;32	Q5VYT2;O95139	.;NDUB6_HUMAN	V	32	.	ENSP00000297983:E32V	E	-	2	0	NDUFB6	32562964	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.571000	0.74000	2.271000	0.75665	0.533000	0.62120	GAG		0.557	NDUFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052001.1	NM_002493	
TMEM215	401498	hgsc.bcm.edu	37	9	32784515	32784515	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr9:32784515G>A	ENST00000342743.5	+	2	699	c.334G>A	c.(334-336)Gct>Act	p.A112T		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	112						integral component of membrane (GO:0016021)		p.A112T(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						AGATGAGCTGGCTAAGAAGGC	0.607																																					p.A112T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G334A	9						.						43.0	47.0	46.0					9																	32784515		2203	4300	6503	32774515	SO:0001583	missense	401498	exon2				CCDS6530.1	9p21.1	2008-08-08			ENSG00000188133	ENSG00000188133			33816	protein-coding gene	gene with protein product							Standard	NM_212558		Approved		uc003zri.4	Q68D42	OTTHUMG00000129521	ENST00000342743.5:c.334G>A	9.37:g.32784515G>A	ENSP00000345468:p.Ala112Thr	Somatic		Capture	SOLID	Phase_I	32774515	NM_212558	Q6ZUU2	Missense_Mutation	SNP	ENST00000342743.5	37	CCDS6530.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.883324	0.33255	.	.	ENSG00000188133	ENST00000342743	.	.	.	5.73	4.82	0.62117	.	0.366182	0.25903	N	0.027546	T	0.32194	0.0821	N	0.14661	0.345	0.41997	D	0.990878	B	0.33238	0.403	B	0.25291	0.059	T	0.22347	-1.0219	9	0.44086	T	0.13	-9.5399	11.7494	0.51839	0.0844:0.0:0.9156:0.0	.	112	Q68D42	TM215_HUMAN	T	112	.	ENSP00000345468:A112T	A	+	1	0	TMEM215	32774515	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.255000	0.58804	2.713000	0.92767	0.655000	0.94253	GCT		0.607	TMEM215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251701.1	NM_212558	
NFX1	4799	hgsc.bcm.edu	37	9	33294903	33294903	+	Missense_Mutation	SNP	G	G	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr9:33294903G>C	ENST00000379540.3	+	2	573	c.511G>C	c.(511-513)Gca>Cca	p.A171P	NFX1_ENST00000318524.6_Missense_Mutation_p.A171P|NFX1_ENST00000379521.4_Missense_Mutation_p.A171P	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	171					inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.A171P(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		ACCCAAAAAAGCAACACAGTT	0.483																																					p.A171P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G511C	9						.						81.0	82.0	82.0					9																	33294903		2203	4300	6503	33284903	SO:0001583	missense	4799	exon2			U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.511G>C	9.37:g.33294903G>C	ENSP00000368856:p.Ala171Pro	Somatic		Capture	SOLID	Phase_I	33284903	NM_147134	A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Missense_Mutation	SNP	ENST00000379540.3	37	CCDS6538.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723551	0.30593	.	.	ENSG00000086102	ENST00000379540;ENST00000379521;ENST00000536210;ENST00000318524	T;T;T	0.24538	2.18;1.85;1.85	5.57	3.5	0.40072	.	0.928927	0.09182	N	0.837349	T	0.20659	0.0497	L	0.27053	0.805	0.25447	N	0.988042	P;P;P;P;P	0.48016	0.786;0.681;0.681;0.892;0.904	B;B;B;P;B	0.47376	0.44;0.255;0.255;0.545;0.44	T	0.11891	-1.0569	10	0.34782	T	0.22	.	2.8538	0.05565	0.2507:0.0:0.5294:0.2199	.	171;55;171;171;171	F5GXD0;A0JLR2;Q12986;Q12986-2;Q12986-3	.;.;NFX1_HUMAN;.;.	P	171	ENSP00000368856:A171P;ENSP00000368836:A171P;ENSP00000317695:A171P	ENSP00000317695:A171P	A	+	1	0	NFX1	33284903	0.101000	0.21875	0.918000	0.36340	0.699000	0.40488	0.541000	0.23207	1.356000	0.45884	0.551000	0.68910	GCA		0.483	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052069.1		
C9orf24	84688	hgsc.bcm.edu	37	9	34397573	34397573	+	Missense_Mutation	SNP	C	C	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr9:34397573C>A	ENST00000297623.2	-	1	257	c.59G>T	c.(58-60)aGg>aTg	p.R20M		NM_032596.3	NP_115985.2	Q8NCR6	SMRP1_HUMAN	chromosome 9 open reading frame 24	20					cell differentiation (GO:0030154)|cellular protein complex assembly (GO:0043623)|spermatogenesis (GO:0007283)	manchette (GO:0002177)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.R20M(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		GGTGGGAGCCCTGTAGGAGTC	0.562																																					p.R20M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G59T	9						.						214.0	192.0	199.0					9																	34397573		2203	4300	6503	34387573	SO:0001583	missense	84688	exon1			BC029484	CCDS6553.1, CCDS6554.1, CCDS6555.1, CCDS59121.1	9p11.2	2013-01-11			ENSG00000164972	ENSG00000164972			19919	protein-coding gene	gene with protein product	"""ciliated bronchial epithelium 1"", ""spermatid-specific manchette-related protein 1"""					12029067	Standard	NM_147168		Approved	bA573M23.4, NYD-SP22, MGC32921, MGC33614, CBE1, SMRP1	uc003zuh.1	Q8NCR6	OTTHUMG00000000437	ENST00000297623.2:c.59G>T	9.37:g.34397573C>A	ENSP00000297623:p.Arg20Met	Somatic		Capture	SOLID	Phase_I	34387573	NM_032596	Q5T598|Q5T599|Q5T5A0|Q8N9G4|Q96KD1|Q96LN1	Missense_Mutation	SNP	ENST00000297623.2	37	CCDS6554.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750599	0.69533	.	.	ENSG00000164972	ENST00000297623	T	0.60040	0.22	5.44	4.53	0.55603	.	0.000000	0.64402	D	0.000003	T	0.63283	0.2498	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.66351	0.943	T	0.66300	-0.5958	10	0.87932	D	0	-18.4539	11.6092	0.51049	0.0:0.9158:0.0:0.0842	.	20	Q8NCR6	CI024_HUMAN	M	20	ENSP00000297623:R20M	ENSP00000297623:R20M	R	-	2	0	C9orf24	34387573	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.931000	0.48932	1.291000	0.44653	0.467000	0.42956	AGG		0.562	C9orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001098.3	NM_147169	
DNAI1	27019	hgsc.bcm.edu	37	9	34514692	34514692	+	Silent	SNP	G	G	A	rs547499630		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr9:34514692G>A	ENST00000242317.4	+	18	1944	c.1773G>A	c.(1771-1773)gcG>gcA	p.A591A		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	591					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)	p.A591A(2)		autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		TGGCCTGGGCGCCATACTCTT	0.567									Kartagener syndrome																												p.A591A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1773A	9						.						158.0	144.0	149.0					9																	34514692		2203	4300	6503	34504692	SO:0001819	synonymous_variant	27019	exon18	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"""Axonemal dyneins"", ""WD repeat domain containing"""	2954	protein-coding gene	gene with protein product		604366	"""dynein, axonemal, intermediate polypeptide 1"""			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.1773G>A	9.37:g.34514692G>A		Somatic		Capture	SOLID	Phase_I	34504692	NM_012144	B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Silent	SNP	ENST00000242317.4	37	CCDS6557.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.273333	0.23221	.	.	ENSG00000122735	ENST00000442556	.	.	.	5.14	-2.15	0.07102	.	.	.	.	.	T	0.38825	0.1055	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31503	-0.9941	4	.	.	.	.	1.1668	0.01817	0.3651:0.3184:0.1764:0.1401	.	.	.	.	H	95	.	.	R	+	2	0	DNAI1	34504692	0.017000	0.18338	0.997000	0.53966	0.991000	0.79684	-1.062000	0.03468	-0.170000	0.10816	-0.340000	0.08031	CGC		0.567	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1		
GALT	2592	hgsc.bcm.edu	37	9	34648855	34648855	+	Missense_Mutation	SNP	C	C	T	rs370031642|rs111033762		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr9:34648855C>T	ENST00000378842.3	+	8	826	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W	IL11RA_ENST00000555003.1_5'Flank|GALT_ENST00000450095.2_Missense_Mutation_p.R153W|GALT_ENST00000556278.1_Intron	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	262			R -> P (in GALCT).		carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)|UDP-glucose catabolic process (GO:0006258)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	UDP-glucose:hexose-1-phosphate uridylyltransferase activity (GO:0008108)|zinc ion binding (GO:0008270)	p.R262W(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		TCGGCATGTGCGGCGGCTACC	0.607									Galactosemia																												p.R262W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C784T	9						.	C	TRP/ARG	0,4406		0,0,2203	72.0	71.0	71.0		784	3.7	0.7	9		71	1,8599	1.2+/-3.3	0,1,4299	no	missense	GALT	NM_000155.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	262/380	34648855	1,13005	2203	4300	6503	34638855	SO:0001583	missense	2592	exon8	Familial Cancer Database	Galactose-1-Phosphate Uridyltransferase Deficiency	M60091	CCDS6565.1, CCDS59122.1	9p13	2013-01-08			ENSG00000213930	ENSG00000213930	2.7.7.12		4135	protein-coding gene	gene with protein product		606999					Standard	NM_000155		Approved		uc003zve.4	P07902	OTTHUMG00000019836	ENST00000378842.3:c.784C>T	9.37:g.34648855C>T	ENSP00000368119:p.Arg262Trp	Somatic		Capture	SOLID	Phase_I	34638855	NM_000155	B4E097|E7ET32|Q14355|Q14356|Q14357|Q14358|Q14359|Q14360|Q14361|Q14363|Q14364|Q14365|Q14369|Q14370|Q14371|Q14372|Q14373|Q14374|Q14375|Q14377|Q14378|Q14380|Q14381|Q14382|Q14383|Q14384|Q14385|Q14386|Q14387|Q14389|Q16766|Q53XK1|Q5VZ81|Q96BY1	Missense_Mutation	SNP	ENST00000378842.3	37	CCDS6565.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.394151	0.62066	0.0	1.16E-4	ENSG00000213930	ENST00000450095;ENST00000378842	D;D	0.99226	-5.59;-5.59	5.78	3.74	0.42951	Histidine triad motif (1);Galactose-1-phosphate uridyl transferase, C-terminal (1);Histidine triad-like motif (1);	0.561563	0.16339	U	0.218741	D	0.98767	0.9585	M	0.64170	1.965	0.31688	N	0.642252	D;D;P	0.69078	0.986;0.997;0.919	P;P;P	0.58970	0.625;0.849;0.773	D	0.98100	1.0414	9	.	.	.	-4.3866	7.6026	0.28085	0.3095:0.6081:0.0:0.0824	.	214;153;262	B4DT62;E7ET32;P07902	.;.;GALT_HUMAN	W	153;262	ENSP00000401956:R153W;ENSP00000368119:R262W	.	R	+	1	2	GALT	34638855	0.594000	0.26849	0.692000	0.30179	0.753000	0.42808	1.682000	0.37628	1.437000	0.47472	0.655000	0.94253	CGG		0.607	GALT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052231.1	NM_000155	
UNC13B	10497	hgsc.bcm.edu	37	9	35396551	35396551	+	Missense_Mutation	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr9:35396551A>G	ENST00000378495.3	+	26	3362	c.3140A>G	c.(3139-3141)tAc>tGc	p.Y1047C	UNC13B_ENST00000378496.4_Missense_Mutation_p.Y1047C|UNC13B_ENST00000481299.1_3'UTR|UNC13B_ENST00000396787.1_Missense_Mutation_p.Y1059C	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1047	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)	p.Y1047C(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CACAATGAATACGTGCGGGAT	0.552																																					p.Y1047C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3140G	9						.						112.0	93.0	99.0					9																	35396551		2203	4300	6503	35386551	SO:0001583	missense	10497	exon26			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.3140A>G	9.37:g.35396551A>G	ENSP00000367756:p.Tyr1047Cys	Somatic		Capture	SOLID	Phase_I	35386551	NM_006377	Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.444545	0.83993	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	D;D;D	0.86097	-1.94;-1.88;-2.07	5.66	5.66	0.87406	Munc13 homology 1 (1);	0.000000	0.85682	D	0.000000	D	0.93239	0.7846	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94325	0.7557	10	0.87932	D	0	-14.7012	15.9051	0.79423	1.0:0.0:0.0:0.0	.	1047;1047	F8W8M9;O14795	.;UN13B_HUMAN	C	1059;1047;1047;634	ENSP00000380006:Y1059C;ENSP00000367756:Y1047C;ENSP00000367757:Y1047C	ENSP00000367756:Y1047C	Y	+	2	0	UNC13B	35386551	1.000000	0.71417	0.923000	0.36655	0.891000	0.51852	9.237000	0.95368	2.151000	0.67156	0.455000	0.32223	TAC		0.552	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377	
CCIN	881	hgsc.bcm.edu	37	9	36170133	36170133	+	Missense_Mutation	SNP	C	C	T	rs377661982		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr9:36170133C>T	ENST00000335119.2	+	1	745	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	212	BACK.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.R212W(1)		breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			GAAGGAGGATCGGGAGAAGTA	0.488																																					p.R212W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C634T	9						.	C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	61.0	59.0	60.0		634	4.6	1.0	9		60	0,8600		0,0,4300	no	missense	CCIN	NM_005893.2	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	212/589	36170133	1,13005	2203	4300	6503	36160133	SO:0001583	missense	881	exon1			Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"""BTB/POZ domain containing"""	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.634C>T	9.37:g.36170133C>T	ENSP00000334996:p.Arg212Trp	Somatic		Capture	SOLID	Phase_I	36160133	NM_005893	Q9BXG7	Missense_Mutation	SNP	ENST00000335119.2	37	CCDS6599.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.682320	0.47991	2.27E-4	0.0	ENSG00000185972	ENST00000335119	T	0.74209	-0.82	5.55	4.62	0.57501	BTB/Kelch-associated (2);	0.000000	0.48286	D	0.000187	T	0.77671	0.4165	L	0.29908	0.895	0.37654	D	0.922513	D	0.89917	1.0	D	0.76071	0.987	T	0.81376	-0.0961	10	0.87932	D	0	-10.3326	11.884	0.52592	0.1729:0.8271:0.0:0.0	.	212	Q13939	CALI_HUMAN	W	212	ENSP00000334996:R212W	ENSP00000334996:R212W	R	+	1	2	CCIN	36160133	0.991000	0.36638	1.000000	0.80357	0.947000	0.59692	0.756000	0.26419	2.607000	0.88179	0.563000	0.77884	CGG		0.488	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893	
MELK	9833	hgsc.bcm.edu	37	9	36671109	36671109	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr9:36671109G>A	ENST00000298048.2	+	16	1804	c.1620G>A	c.(1618-1620)gtG>gtA	p.V540V	MELK_ENST00000538311.1_Silent_p.V346V|MELK_ENST00000543751.1_Silent_p.V508V|MELK_ENST00000536860.1_Silent_p.V492V|MELK_ENST00000545008.1_Silent_p.V469V|MELK_ENST00000536987.1_Silent_p.V409V|MELK_ENST00000541717.1_Silent_p.V499V|MELK_ENST00000536329.1_Silent_p.V469V	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	540	Autoinhibitory region.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neural precursor cell proliferation (GO:0061351)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)	cell cortex (GO:0005938)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)	p.V540V(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			TTATCACTGTGCTCACCAGGA	0.483																																					p.V540V	Ovarian(82;980 1317 7225 14391 18624)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1620A	9						.						81.0	83.0	82.0					9																	36671109		2203	4300	6503	36661109	SO:0001819	synonymous_variant	9833	exon16			D79997	CCDS6606.1, CCDS59123.1, CCDS59124.1, CCDS59125.1, CCDS59126.1, CCDS59127.1, CCDS59128.1	9p13.1	2008-02-05			ENSG00000165304	ENSG00000165304			16870	protein-coding gene	gene with protein product		607025				8724849, 9136115	Standard	NM_001256689		Approved	KIAA0175	uc003zzn.4	Q14680	OTTHUMG00000019906	ENST00000298048.2:c.1620G>A	9.37:g.36671109G>A		Somatic		Capture	SOLID	Phase_I	36661109	NM_014791	A6P3A7|A6P3A8|B1AMQ6|B7Z1E6|B7Z5M5|B7Z6Q7|B7Z6R8|B7Z6Y0|B7Z7Q1|D3DRP8|F5H0Y0|F5H2R4|F5H689|Q7L3C3	Silent	SNP	ENST00000298048.2	37	CCDS6606.1																																																																																				0.483	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052428.3	NM_014791	
TMEM2	23670	hgsc.bcm.edu	37	9	74347341	74347341	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr9:74347341C>T	ENST00000377044.4	-	7	2028	c.1489G>A	c.(1489-1491)Gaa>Aaa	p.E497K	TMEM2_ENST00000377066.5_Missense_Mutation_p.E434K	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	497					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.E497K(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TCCTCCACTTCTCCTTGGATC	0.433																																					p.E497K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1489A	9						.						131.0	118.0	122.0					9																	74347341		2203	4300	6503	73537161	SO:0001583	missense	23670	exon7				CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.1489G>A	9.37:g.74347341C>T	ENSP00000366243:p.Glu497Lys	Somatic		Capture	SOLID	Phase_I	73537161	NM_013390	A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	C	35	5.565961	0.96540	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	T;T	0.81247	-1.47;-1.47	5.54	5.54	0.83059	Pectin lyase fold/virulence factor (1);	0.000000	0.85682	D	0.000000	D	0.91030	0.7178	M	0.88377	2.95	0.80722	D	1	P;D	0.59357	0.931;0.985	P;D	0.64321	0.766;0.924	D	0.91623	0.5312	10	0.54805	T	0.06	.	19.4964	0.95075	0.0:1.0:0.0:0.0	.	497;434	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	K	497;434	ENSP00000366243:E497K;ENSP00000366266:E434K	ENSP00000366243:E497K	E	-	1	0	TMEM2	73537161	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.886000	0.63149	2.618000	0.88619	0.650000	0.86243	GAA		0.433	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390	
RMI1	80010	hgsc.bcm.edu	37	9	86615994	86615994	+	Silent	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr9:86615994T>C	ENST00000325875.3	+	3	425	c.93T>C	c.(91-93)atT>atC	p.I31I		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	31					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)		p.I31I(1)		biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						AAGCTTGTATTAACTGGATTC	0.383																																					p.I31I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T93C	9						.						103.0	110.0	108.0					9																	86615994		2203	4300	6503	85805814	SO:0001819	synonymous_variant	80010	exon3			AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"""BLM-Associated Polypeptide, 75 kDa"""	610404	"""chromosome 9 open reading frame 76"", ""RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"""	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.93T>C	9.37:g.86615994T>C		Somatic		Capture	SOLID	Phase_I	85805814	NM_024945	Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Silent	SNP	ENST00000325875.3	37	CCDS6669.1																																																																																				0.383	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052870.1	NM_024945	
SEMA4D	10507	hgsc.bcm.edu	37	9	92003818	92003818	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr9:92003818G>A	ENST00000450295.1	-	10	1695	c.919C>T	c.(919-921)Cct>Tct	p.P307S	SEMA4D_ENST00000339861.4_Missense_Mutation_p.P307S|SEMA4D_ENST00000343780.4_Missense_Mutation_p.P307S|SEMA4D_ENST00000438547.2_Missense_Mutation_p.P307S|SEMA4D_ENST00000420987.1_Missense_Mutation_p.P307S|SEMA4D_ENST00000455551.2_Missense_Mutation_p.P307S|SEMA4D_ENST00000422704.2_Missense_Mutation_p.P307S|SEMA4D_ENST00000356444.2_Missense_Mutation_p.P307S			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	307	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)	p.P307S(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						TAGAACACAGGCACCTTCAGG	0.612																																					p.P307S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C919T	9						.						99.0	100.0	100.0					9																	92003818		2203	4300	6503	91193638	SO:0001583	missense	10507	exon12			U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"""Semaphorins"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10732	protein-coding gene	gene with protein product	"""M-sema G"""	601866	"""chromosome 9 open reading frame 164"""	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.919C>T	9.37:g.92003818G>A	ENSP00000416523:p.Pro307Ser	Somatic		Capture	SOLID	Phase_I	91193638	NM_001142287	B2RPM6|Q7Z5S4|Q8N8B0	Missense_Mutation	SNP	ENST00000450295.1	37	CCDS6685.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.657480	0.47467	.	.	ENSG00000187764	ENST00000339861;ENST00000420987;ENST00000455551;ENST00000343780;ENST00000450295;ENST00000438547;ENST00000356444;ENST00000422704	T;T;T;T;T;T;T;T	0.10860	2.83;2.83;2.83;2.83;2.83;2.83;2.83;2.83	4.96	4.96	0.65561	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.319150	0.37906	N	0.001883	T	0.11665	0.0284	L	0.27975	0.815	0.49798	D	0.99982	P;B	0.48294	0.908;0.329	B;P	0.44811	0.406;0.461	T	0.12400	-1.0549	10	0.30854	T	0.27	.	18.396	0.90499	0.0:0.0:1.0:0.0	.	307;307	Q92854-2;Q92854	.;SEM4D_HUMAN	S	307	ENSP00000344923:P307S;ENSP00000391733:P307S;ENSP00000411981:P307S;ENSP00000343418:P307S;ENSP00000416523:P307S;ENSP00000405102:P307S;ENSP00000348822:P307S;ENSP00000388768:P307S	ENSP00000344923:P307S	P	-	1	0	SEMA4D	91193638	1.000000	0.71417	0.944000	0.38274	0.385000	0.30292	4.561000	0.60809	2.564000	0.86499	0.561000	0.74099	CCT		0.612	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342411.1	NM_006378	
BICD2	23299	hgsc.bcm.edu	37	9	95491338	95491338	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr9:95491338G>A	ENST00000375512.3	-	2	488	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	BICD2_ENST00000356884.6_Missense_Mutation_p.R141C	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	141					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)	p.R141C(1)		cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GAGGCCAGGCGCTCATTCTCC	0.617																																					p.R141C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C421T	9						.						112.0	80.0	91.0					9																	95491338		2203	4300	6503	94531159	SO:0001583	missense	23299	exon2			AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.421C>T	9.37:g.95491338G>A	ENSP00000364662:p.Arg141Cys	Somatic		Capture	SOLID	Phase_I	94531159	NM_015250	O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.578372	0.65878	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.54279	0.58;0.58	5.37	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.54498	0.1862	M	0.83774	2.66	0.80722	D	1	B;B	0.30211	0.273;0.068	B;B	0.20184	0.028;0.028	T	0.62812	-0.6775	10	0.72032	D	0.01	-27.1359	13.9245	0.63955	0.0:0.0:0.8479:0.1521	.	141;141	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	C	141	ENSP00000349351:R141C;ENSP00000364662:R141C	ENSP00000349351:R141C	R	-	1	0	BICD2	94531159	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	6.402000	0.73260	2.684000	0.91462	0.655000	0.94253	CGC		0.617	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250	
FAM120A	23196	hgsc.bcm.edu	37	9	96320201	96320201	+	Silent	SNP	G	G	A	rs148046840	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr9:96320201G>A	ENST00000277165.6	+	14	2771	c.2577G>A	c.(2575-2577)ccG>ccA	p.P859P	FAM120A_ENST00000340893.4_Silent_p.P859P|FAM120A_ENST00000333936.5_Silent_p.P887P	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	859	RNA binding.					cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.P859P(1)		endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTTTCCCGCCGCCACCTGCCC	0.647													G|||	6	0.00119808	0.0023	0.0	5008	,	,		17350	0.0		0.0	False		,,,				2504	0.0031				p.P859P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2577A	9						.	G		6,4400	11.4+/-27.6	0,6,2197	51.0	40.0	44.0		2577	-11.5	0.0	9	dbSNP_134	44	0,8600		0,0,4300	no	coding-synonymous	FAM120A	NM_014612.3		0,6,6497	AA,AG,GG		0.0,0.1362,0.0461		859/1119	96320201	6,13000	2203	4300	6503	95360022	SO:0001819	synonymous_variant	23196	exon14			AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.2577G>A	9.37:g.96320201G>A		Somatic		Capture	SOLID	Phase_I	95360022	NM_014612	A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Silent	SNP	ENST00000277165.6	37	CCDS6706.1																																																																																				0.647	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612	
QSOX2	169714	hgsc.bcm.edu	37	9	139110639	139110639	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr9:139110639C>T	ENST00000358701.5	-	8	1009	c.972G>A	c.(970-972)acG>acA	p.T324T		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	324					cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)	p.T324T(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CCAGGTCCACCGTGTACAGCT	0.612																																					p.T324T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G972A	9						.						84.0	66.0	72.0					9																	139110639		2203	4300	6503	138250460	SO:0001819	synonymous_variant	169714	exon8			AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"""quiescin Q6-like 1"""	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.972G>A	9.37:g.139110639C>T		Somatic		Capture	SOLID	Phase_I	138250460	NM_181701	A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Silent	SNP	ENST00000358701.5	37	CCDS35178.1	.	.	.	.	.	.	.	.	.	.	C	0.786	-0.760439	0.02996	.	.	ENSG00000165661	ENST00000455222	.	.	.	4.86	-3.02	0.05446	.	.	.	.	.	T	0.46619	0.1402	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34153	-0.9840	4	.	.	.	-7.1771	4.1256	0.10126	0.4129:0.2857:0.2313:0.0702	.	.	.	.	S	92	.	.	G	-	1	0	QSOX2	138250460	0.632000	0.27172	0.001000	0.08648	0.056000	0.15407	-0.122000	0.10627	-1.151000	0.02836	0.436000	0.28706	GGT		0.612	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055046.2	NM_181701	
FGF14	2259	hgsc.bcm.edu	37	13	102568820	102568820	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr13:102568820C>T	ENST00000376143.4	-	1	175	c.176G>A	c.(175-177)cGc>cAc	p.R59H	FGF14_ENST00000376131.4_Intron	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	59					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.R59H(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCGCAACCTGCGCTTCTTGAG	0.662																																					p.R59H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G176A	13						.						46.0	46.0	46.0					13																	102568820		2203	4300	6503	101366821	SO:0001583	missense	2259	exon1				CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.176G>A	13.37:g.102568820C>T	ENSP00000365313:p.Arg59His	Somatic		Capture	SOLID	Phase_I	101366821	NM_004115	Q86YN7|Q96QX6	Missense_Mutation	SNP	ENST00000376143.4	37	CCDS9501.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.731443	0.69189	.	.	ENSG00000102466	ENST00000376143	T	0.79033	-1.23	5.36	4.52	0.55395	.	.	.	.	.	T	0.80160	0.4572	L	0.57536	1.79	0.30816	N	0.73831	D	0.58268	0.982	P	0.50049	0.629	T	0.79776	-0.1661	9	0.49607	T	0.09	.	14.3241	0.66507	0.0:0.9281:0.0:0.0719	.	59	Q92915	FGF14_HUMAN	H	59	ENSP00000365313:R59H	ENSP00000365313:R59H	R	-	2	0	FGF14	101366821	1.000000	0.71417	1.000000	0.80357	0.308000	0.27856	5.541000	0.67212	1.251000	0.43983	0.563000	0.77884	CGC		0.662	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045679.2		
LIG4	3981	hgsc.bcm.edu	37	13	108861174	108861174	+	Missense_Mutation	SNP	G	G	A	rs375437614		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr13:108861174G>A	ENST00000356922.4	-	2	2715	c.2443C>T	c.(2443-2445)Cgc>Tgc	p.R815C	LIG4_ENST00000405925.1_Missense_Mutation_p.R815C|LIG4_ENST00000442234.1_Missense_Mutation_p.R815C	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	815	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.R815C(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					ACGGTGTGGCGTCGAAACATA	0.418								Non-homologous end-joining					G|||	1	0.000199681	0.0008	0.0	5008	,	,		17453	0.0		0.0	False		,,,				2504	0.0				p.R815C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2443T	13						.	G	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	87.0	83.0	84.0		2443,2443,2443	2.9	0.1	13		84	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	LIG4	NM_001098268.1,NM_002312.3,NM_206937.1	180,180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	815/912,815/912,815/912	108861174	1,13005	2203	4300	6503	107659175	SO:0001583	missense	3981	exon2			X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.2443C>T	13.37:g.108861174G>A	ENSP00000349393:p.Arg815Cys	Somatic		Capture	SOLID	Phase_I	107659175	NM_002312	Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.794413	0.31777	0.0	1.16E-4	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.62941	-0.01;-0.01;-0.01	5.59	2.9	0.33743	BRCT (2);	0.378287	0.30101	N	0.010411	T	0.30572	0.0769	N	0.08118	0	0.29725	N	0.8383	P	0.37233	0.588	B	0.21360	0.034	T	0.24190	-1.0167	10	0.48119	T	0.1	.	5.2242	0.15385	0.0716:0.134:0.5474:0.2469	.	815	P49917	DNLI4_HUMAN	C	815	ENSP00000385955:R815C;ENSP00000402030:R815C;ENSP00000349393:R815C	ENSP00000349393:R815C	R	-	1	0	LIG4	107659175	0.991000	0.36638	0.123000	0.21794	0.813000	0.45954	4.027000	0.57239	0.306000	0.22856	-0.422000	0.05995	CGC		0.418	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312	
TMCO3	55002	hgsc.bcm.edu	37	13	114202736	114202736	+	Missense_Mutation	SNP	G	G	A	rs145599687		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr13:114202736G>A	ENST00000434316.2	+	12	2248	c.1889G>A	c.(1888-1890)cGg>cAg	p.R630Q	TMCO3_ENST00000375391.1_Intron	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	630						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.R630Q(1)		NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			CTGGGGAGCCGGGCGCGAAGA	0.647																																					p.R630Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1889A	13						.	G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	63.0	62.0	63.0		1889	4.9	0.9	13	dbSNP_134	63	0,8600		0,0,4300	no	missense	TMCO3	NM_017905.4	43	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	630/678	114202736	2,13004	2203	4300	6503	113250737	SO:0001583	missense	55002	exon12			BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 11"""	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.1889G>A	13.37:g.114202736G>A	ENSP00000389399:p.Arg630Gln	Somatic		Capture	SOLID	Phase_I	113250737	NM_017905	Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Missense_Mutation	SNP	ENST00000434316.2	37	CCDS9537.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697347	0.88830	4.54E-4	0.0	ENSG00000150403	ENST00000434316	T	0.16457	2.34	4.94	4.94	0.65067	Cation/H+ exchanger (1);	0.113498	0.64402	N	0.000020	T	0.40272	0.1110	L	0.60067	1.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.17289	-1.0374	10	0.52906	T	0.07	-3.223	18.2151	0.89882	0.0:0.0:1.0:0.0	.	630	Q6UWJ1	TMCO3_HUMAN	Q	630	ENSP00000389399:R630Q	ENSP00000389399:R630Q	R	+	2	0	TMCO3	113250737	1.000000	0.71417	0.912000	0.35992	0.621000	0.37620	7.494000	0.81503	2.293000	0.77203	0.555000	0.69702	CGG		0.647	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905	
PARP4	143	hgsc.bcm.edu	37	13	25075782	25075782	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr13:25075782G>A	ENST00000381989.3	-	3	428	c.323C>T	c.(322-324)gCg>gTg	p.A108V		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	108					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.A108V(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AGAACTGCTCGCCTTCTGATC	0.413																																					p.A108V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C323T	13						.						135.0	137.0	137.0					13																	25075782		2203	4300	6503	23973782	SO:0001583	missense	143	exon3			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.323C>T	13.37:g.25075782G>A	ENSP00000371419:p.Ala108Val	Somatic		Capture	SOLID	Phase_I	23973782	NM_006437	O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	G	9.248	1.040020	0.19669	.	.	ENSG00000102699	ENST00000381989	T	0.01838	4.61	4.88	1.98	0.26296	.	2.362690	0.01496	N	0.017280	T	0.03220	0.0094	L	0.54323	1.7	0.09310	N	1	P	0.34955	0.477	B	0.25614	0.062	T	0.47522	-0.9111	10	0.32370	T	0.25	0.061	7.0241	0.24930	0.0:0.1552:0.4491:0.3957	.	108	Q9UKK3	PARP4_HUMAN	V	108	ENSP00000371419:A108V	ENSP00000371419:A108V	A	-	2	0	PARP4	23973782	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.553000	0.23391	0.181000	0.19994	0.655000	0.94253	GCG		0.413	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437	
ATP12A	479	hgsc.bcm.edu	37	13	25265211	25265211	+	Silent	SNP	G	G	A	rs61739266		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr13:25265211G>A	ENST00000381946.3	+	8	1058	c.891G>A	c.(889-891)acG>acA	p.T297T	ATP12A_ENST00000218548.6_Silent_p.T303T			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	297					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.T297T(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		ATGAGAAGACGCCCATTGCCA	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		23523	0.001		0.0	False		,,,				2504	0.0				p.T303T	Pancreas(156;1582 1935 18898 22665 26498)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G909A	13						.	G	,	2,4404	4.2+/-10.8	0,2,2201	184.0	151.0	162.0		909,891	-6.1	0.9	13	dbSNP_129	162	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous	ATP12A	NM_001185085.1,NM_001676.5	,	0,6,6497	AA,AG,GG		0.0465,0.0454,0.0461	,	303/1046,297/1040	25265211	6,13000	2203	4300	6503	24163211	SO:0001819	synonymous_variant	479	exon8			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.891G>A	13.37:g.25265211G>A		Somatic		Capture	SOLID	Phase_I	24163211	NM_001185085	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Silent	SNP	ENST00000381946.3	37	CCDS31948.1																																																																																				0.522	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676	
ATP12A	479	hgsc.bcm.edu	37	13	25266668	25266668	+	Silent	SNP	G	G	A	rs557563746|rs367998322	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr13:25266668G>A	ENST00000381946.3	+	9	1337	c.1170G>A	c.(1168-1170)tcG>tcA	p.S390S	ATP12A_ENST00000218548.6_Silent_p.S396S			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	390					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.S390S(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		TCATCTGCTCGGACAAGACTG	0.547																																					p.S396S	Pancreas(156;1582 1935 18898 22665 26498)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1188A	13						.	G	,	1,4405	2.1+/-5.4	0,1,2202	92.0	82.0	86.0		1188,1170	-11.0	0.7	13		86	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ATP12A	NM_001185085.1,NM_001676.5	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	396/1046,390/1040	25266668	1,13005	2203	4300	6503	24164668	SO:0001819	synonymous_variant	479	exon9			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1170G>A	13.37:g.25266668G>A		Somatic		Capture	SOLID	Phase_I	24164668	NM_001185085	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Silent	SNP	ENST00000381946.3	37	CCDS31948.1																																																																																				0.547	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676	
DCLK1	9201	hgsc.bcm.edu	37	13	36700166	36700166	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr13:36700166C>T	ENST00000360631.3	-	2	320	c.109G>A	c.(109-111)Gcc>Acc	p.A37T	DCLK1_ENST00000255448.4_Missense_Mutation_p.A37T|DCLK1_ENST00000379892.4_Missense_Mutation_p.A37T			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	37					axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)	p.A37T(2)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CTGCAGTGGGCGCTGTGCGTC	0.607																																					p.A37T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G109A	13						.						70.0	67.0	68.0					13																	36700166		2203	4300	6503	35598166	SO:0001583	missense	9201	exon2			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.109G>A	13.37:g.36700166C>T	ENSP00000353846:p.Ala37Thr	Somatic		Capture	SOLID	Phase_I	35598166	NM_004734	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37		.	.	.	.	.	.	.	.	.	.	C	36	5.802157	0.96960	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	T;T;T	0.71461	-0.57;-0.57;1.49	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.84183	0.5416	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	D	0.85163	0.0993	10	0.87932	D	0	.	19.7802	0.96413	0.0:1.0:0.0:0.0	.	37	O15075-2	.	T	37	ENSP00000255448:A37T;ENSP00000353846:A37T;ENSP00000369222:A37T	ENSP00000255448:A37T	A	-	1	0	DCLK1	35598166	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.643000	0.83403	2.675000	0.91044	0.655000	0.94253	GCC		0.607	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734	
POSTN	10631	hgsc.bcm.edu	37	13	38162097	38162097	+	Silent	SNP	G	G	A	rs368300503		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr13:38162097G>A	ENST00000379747.4	-	5	585	c.468C>T	c.(466-468)aaC>aaT	p.N156N	POSTN_ENST00000379743.4_Silent_p.N156N|POSTN_ENST00000541179.1_Silent_p.N156N|POSTN_ENST00000379749.4_Silent_p.N156N|POSTN_ENST00000379742.4_Silent_p.N156N|POSTN_ENST00000541481.1_Silent_p.N156N	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	156	FAS1 1. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)	p.N156N(2)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CAACATTCACGTTGCTCTCCA	0.323																																					p.N156N												.	.	2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)	c.C468T	13						.	G	,,,	1,4405	2.1+/-5.4	0,1,2202	103.0	100.0	101.0		468,468,468,468	0.4	1.0	13		101	0,8590		0,0,4295	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	POSTN	NM_001135934.1,NM_001135935.1,NM_001135936.1,NM_006475.2	,,,	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	,,,	156/780,156/782,156/752,156/837	38162097	1,12995	2203	4295	6498	37060097	SO:0001819	synonymous_variant	10631	exon5			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.468C>T	13.37:g.38162097G>A		Somatic		Capture	SOLID	Phase_I	37060097	NM_001135934	B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Silent	SNP	ENST00000379747.4	37	CCDS9364.1																																																																																				0.323	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475	
ELF1	1997	hgsc.bcm.edu	37	13	41507720	41507720	+	Missense_Mutation	SNP	C	C	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr13:41507720C>A	ENST00000239882.3	-	9	2015	c.1701G>T	c.(1699-1701)caG>caT	p.Q567H	ELF1_ENST00000442101.1_Missense_Mutation_p.Q543H|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	567					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q567H(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		TCTCTACTTCCTGTGTAAGAG	0.438																																					p.Q567H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1701T	13						.						138.0	137.0	137.0					13																	41507720		2203	4300	6503	40405720	SO:0001583	missense	1997	exon9			M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.1701G>T	13.37:g.41507720C>A	ENSP00000239882:p.Gln567His	Somatic		Capture	SOLID	Phase_I	40405720	NM_172373	B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Missense_Mutation	SNP	ENST00000239882.3	37	CCDS9374.1	.	.	.	.	.	.	.	.	.	.	C	7.052	0.564726	0.13498	.	.	ENSG00000120690	ENST00000442101;ENST00000379498;ENST00000239882	T;T	0.21031	2.04;2.03	5.84	1.07	0.20283	.	0.368825	0.26485	N	0.024109	T	0.13072	0.0317	L	0.32530	0.975	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.003;0.004	T	0.17137	-1.0379	10	0.48119	T	0.1	.	5.2887	0.15716	0.1396:0.2773:0.0:0.5831	.	543;567	E9PDQ9;P32519	.;ELF1_HUMAN	H	543;309;567	ENSP00000405580:Q543H;ENSP00000239882:Q567H	ENSP00000239882:Q567H	Q	-	3	2	ELF1	40405720	0.432000	0.25554	0.665000	0.29768	0.974000	0.67602	0.068000	0.14531	0.232000	0.21100	-0.218000	0.12543	CAG		0.438	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3	NM_172373	
OLFM4	10562	hgsc.bcm.edu	37	13	53603149	53603149	+	Silent	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr13:53603149T>C	ENST00000219022.2	+	1	256	c.178T>C	c.(178-180)Tta>Cta	p.L60L		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	60	Ser-rich.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)	p.L60L(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		cagccgcagcTTAGGCAGCGG	0.562																																					p.L60L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T178C	13						.						55.0	62.0	60.0					13																	53603149		2203	4300	6503	52501150	SO:0001819	synonymous_variant	10562	exon1			AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.178T>C	13.37:g.53603149T>C		Somatic		Capture	SOLID	Phase_I	52501150	NM_006418	O95362|Q5VWG0|Q86T22	Silent	SNP	ENST00000219022.2	37	CCDS9440.1																																																																																				0.562	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418	
PCDH9	5101	hgsc.bcm.edu	37	13	67205463	67205463	+	Silent	SNP	C	C	T	rs143689859	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr13:67205463C>T	ENST00000377865.2	-	3	3353	c.3219G>A	c.(3217-3219)ccG>ccA	p.P1073P	RNU7-87P_ENST00000459343.1_RNA|PCDH9_ENST00000328454.5_Silent_p.P1039P|PCDH9_ENST00000456367.1_Silent_p.P1039P|PCDH9_ENST00000544246.1_Silent_p.P1073P			Q9HC56	PCDH9_HUMAN	protocadherin 9	1073					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P1073P(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CACTACCCACCGGCTCATGGT	0.552																																					p.P1039P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3117A	13						.						125.0	108.0	114.0					13																	67205463		2203	4300	6503	66103464	SO:0001819	synonymous_variant	5101	exon3			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3219G>A	13.37:g.67205463C>T		Somatic		Capture	SOLID	Phase_I	66103464	NM_020403	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Silent	SNP	ENST00000377865.2	37	CCDS9444.1																																																																																				0.552	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487	
LMO7	4008	hgsc.bcm.edu	37	13	76301190	76301190	+	Missense_Mutation	SNP	G	G	A	rs140368500		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr13:76301190G>A	ENST00000341547.4	+	4	1582	c.322G>A	c.(322-324)Gtc>Atc	p.V108I	LMO7_ENST00000357063.3_Missense_Mutation_p.V108I|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000377534.3_Missense_Mutation_p.V108I	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	108	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V108I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TAAACCTGGCGTCATTAAGAA	0.303													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17245	0.0		0.0	False		,,,				2504	0.0				p.V108I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G322A	13						.	G	ILE/VAL	0,4406		0,0,2203	84.0	78.0	80.0		322	-8.0	0.0	13	dbSNP_134	80	2,8596	2.2+/-6.3	0,2,4297	yes	missense	LMO7	NM_005358.5	29	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154		108/1350	76301190	2,13002	2203	4299	6502	75199191	SO:0001583	missense	4008	exon4			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.322G>A	13.37:g.76301190G>A	ENSP00000342112:p.Val108Ile	Somatic		Capture	SOLID	Phase_I	75199191	NM_005358	E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000341547.4	37	CCDS9454.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	4.765	0.142174	0.09083	0.0	2.33E-4	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.23	-7.99	0.01131	.	1.050650	0.07501	N	0.907249	T	0.25082	0.0609	N	0.01122	-1.005	0.09310	N	1	B;B	0.14438	0.01;0.002	B;B	0.08055	0.003;0.003	T	0.47509	-0.9112	10	0.11182	T	0.66	.	18.9369	0.92589	0.879:0.0:0.121:0.0	.	108;56	Q8WWI1-3;F8J2B5	.;.	I	108;108;108;56	ENSP00000342112:V108I;ENSP00000349571:V108I;ENSP00000366757:V108I;ENSP00000366719:V56I	ENSP00000342112:V108I	V	+	1	0	LMO7	75199191	0.001000	0.12720	0.002000	0.10522	0.758000	0.43043	-0.174000	0.09839	-1.935000	0.01049	-1.553000	0.00894	GTC		0.303	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045297.1	NM_005358	
MYCBP2	23077	hgsc.bcm.edu	37	13	77713363	77713363	+	Missense_Mutation	SNP	G	G	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr13:77713363G>C	ENST00000544440.2	-	52	7530	c.7513C>G	c.(7513-7515)Cat>Gat	p.H2505D	MYCBP2_ENST00000407578.2_Missense_Mutation_p.H2543D|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.H2505D					MYC binding protein 2, E3 ubiquitin protein ligase									p.H2505D(1)|p.H2543D(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTGCCAAGATGTTGATTAAAA	0.393																																					p.H2543D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C7627G	13						.						183.0	162.0	169.0					13																	77713363		2203	4300	6503	76611364	SO:0001583	missense	23077	exon52			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.7513C>G	13.37:g.77713363G>C	ENSP00000444596:p.His2505Asp	Somatic		Capture	SOLID	Phase_I	76611364	NM_015057		Missense_Mutation	SNP	ENST00000544440.2	37		.	.	.	.	.	.	.	.	.	.	G	20.2	3.954327	0.73902	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.35421	1.32;1.31;1.32	5.48	5.48	0.80851	.	0.055893	0.64402	D	0.000001	T	0.55893	0.1949	L	0.54323	1.7	0.80722	D	1	P	0.50156	0.932	P	0.61397	0.888	T	0.56062	-0.8041	10	0.72032	D	0.01	.	19.3486	0.94374	0.0:0.0:1.0:0.0	.	2505	O75592	MYCB2_HUMAN	D	2505;2543;2505	ENSP00000349892:H2505D;ENSP00000384288:H2543D;ENSP00000444596:H2505D	ENSP00000349892:H2505D	H	-	1	0	MYCBP2	76611364	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	9.476000	0.97823	2.573000	0.86826	0.557000	0.71058	CAT		0.393	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057	
ATP4B	496	hgsc.bcm.edu	37	13	114303823	114303823	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr13:114303823C>T	ENST00000335288.4	-	7	783	c.742G>A	c.(742-744)Gcg>Acg	p.A248T		NM_000705.3	NP_000696.1	P51164	ATP4B_HUMAN	ATPase, H+/K+ exchanging, beta polypeptide	248	immunoglobulin-like.				cell adhesion (GO:0007155)|hydrogen ion transmembrane transport (GO:1902600)|ion transmembrane transport (GO:0034220)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	hydrogen:potassium-exchanging ATPase activity (GO:0008900)	p.A248T(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.171)			AGGAGCTTCGCTGCCACCAGG	0.537																																					p.A248T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G742A	13						.						51.0	38.0	43.0					13																	114303823		2202	4286	6488	113351824	SO:0001583	missense	496	exon7				CCDS9539.1	13q34	2011-08-01			ENSG00000186009	ENSG00000186009	3.6.3.10	"""ATPases / P-type"""	820	protein-coding gene	gene with protein product		137217				1330887, 15057823	Standard	NM_000705		Approved	ATP6B	uc001vtz.3	P51164	OTTHUMG00000140234	ENST00000335288.4:c.742G>A	13.37:g.114303823C>T	ENSP00000334216:p.Ala248Thr	Somatic		Capture	SOLID	Phase_I	113351824	NM_000705	B1B0N8	Missense_Mutation	SNP	ENST00000335288.4	37	CCDS9539.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.063646	0.55432	.	.	ENSG00000186009	ENST00000335288	T	0.30448	1.53	4.73	4.73	0.59995	.	0.524279	0.16833	N	0.197655	T	0.45994	0.1370	M	0.63428	1.95	0.09310	N	0.999998	P	0.50819	0.939	P	0.51453	0.67	T	0.42120	-0.9470	10	0.72032	D	0.01	1.8119	17.7068	0.88311	0.0:1.0:0.0:0.0	.	248	P51164	ATP4B_HUMAN	T	248	ENSP00000334216:A248T	ENSP00000334216:A248T	A	-	1	0	ATP4B	113351824	1.000000	0.71417	0.007000	0.13788	0.001000	0.01503	6.489000	0.73641	2.158000	0.67659	0.484000	0.47621	GCG		0.537	ATP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276703.2	NM_000705	
GOT1	2805	hgsc.bcm.edu	37	10	101163586	101163586	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr10:101163586C>T	ENST00000370508.5	-	6	715	c.688G>A	c.(688-690)Gca>Aca	p.A230T	GOT1_ENST00000543866.1_Missense_Mutation_p.A209T	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	230					2-oxoglutarate metabolic process (GO:0006103)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to insulin stimulus (GO:0032869)|fatty acid homeostasis (GO:0055089)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|glycerol biosynthetic process (GO:0006114)|L-methionine biosynthetic process from methylthioadenosine (GO:0019509)|oxaloacetate metabolic process (GO:0006107)|polyamine metabolic process (GO:0006595)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	carboxylic acid binding (GO:0031406)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-cysteine:2-oxoglutarate aminotransferase activity (GO:0047801)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|phosphatidylserine decarboxylase activity (GO:0004609)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.A230T(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)	TTTCCAGATGCGAAGCCCTGA	0.537																																					p.A230T	Melanoma(173;770 3544 21601)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G688A	10						.						64.0	68.0	67.0					10																	101163586		2203	4300	6503	101153576	SO:0001583	missense	2805	exon6			M37400	CCDS7479.1	10q24.1-q25.1	2013-05-29	2013-05-29		ENSG00000120053	ENSG00000120053	2.6.1.1		4432	protein-coding gene	gene with protein product	"""aspartate aminotransferase 1"", ""aspartate transaminase 1"""	138180	"""glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)"""			1974457	Standard	NM_002079		Approved		uc001kpr.3	P17174	OTTHUMG00000018882	ENST00000370508.5:c.688G>A	10.37:g.101163586C>T	ENSP00000359539:p.Ala230Thr	Somatic		Capture	SOLID	Phase_I	101153576	NM_002079	B2R6R7|B7Z7E9|Q5VW80	Missense_Mutation	SNP	ENST00000370508.5	37	CCDS7479.1	.	.	.	.	.	.	.	.	.	.	C	34	5.408394	0.96051	.	.	ENSG00000120053	ENST00000370508;ENST00000535447;ENST00000543866	D;D	0.91407	-2.84;-2.84	5.6	5.6	0.85130	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.095894	0.64402	D	0.000001	D	0.93838	0.8029	M	0.88775	2.98	0.80722	D	1	D	0.65815	0.995	P	0.47162	0.54	D	0.94850	0.8013	10	0.87932	D	0	-8.5756	19.6558	0.95837	0.0:1.0:0.0:0.0	.	230	P17174	AATC_HUMAN	T	230;183;209	ENSP00000359539:A230T;ENSP00000445578:A209T	ENSP00000359539:A230T	A	-	1	0	GOT1	101153576	1.000000	0.71417	0.917000	0.36280	0.865000	0.49528	6.064000	0.71169	2.647000	0.89833	0.558000	0.71614	GCA		0.537	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049794.1	NM_002079	
SEMA4G	57715	hgsc.bcm.edu	37	10	102738100	102738100	+	Missense_Mutation	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr10:102738100A>G	ENST00000370250.4	+	5	857	c.484A>G	c.(484-486)Aag>Gag	p.K162E	RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000210633.3_Missense_Mutation_p.K162E|SEMA4G_ENST00000519756.1_3'UTR|MRPL43_ENST00000318325.2_3'UTR|SEMA4G_ENST00000517724.1_Missense_Mutation_p.K162E	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	162	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.K162E(1)		breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		GGGGAAGGAGAAGTGTCCTTA	0.532																																					p.K162E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A484G	10						.						94.0	73.0	80.0					10																	102738100		2203	4300	6503	102728090	SO:0001583	missense	57715	exon5			AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.484A>G	10.37:g.102738100A>G	ENSP00000359270:p.Lys162Glu	Somatic		Capture	SOLID	Phase_I	102728090	NM_017893	A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Missense_Mutation	SNP	ENST00000370250.4	37		.	.	.	.	.	.	.	.	.	.	A	26.9	4.778295	0.90195	.	.	ENSG00000095539	ENST00000519649;ENST00000518124;ENST00000457585;ENST00000370250;ENST00000517724;ENST00000210633	T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76	5.65	5.65	0.86999	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.095973	0.64402	D	0.000001	T	0.41488	0.1161	M	0.90870	3.155	0.49582	D	0.999802	D;D;P	0.76494	0.973;0.999;0.525	P;D;B	0.71414	0.865;0.973;0.407	T	0.52697	-0.8541	10	0.87932	D	0	.	15.0463	0.71830	1.0:0.0:0.0:0.0	.	162;162;162	Q9NTN9;A1A5C6;Q9NTN9-2	SEM4G_HUMAN;.;.	E	162	ENSP00000428896:K162E;ENSP00000430103:K162E;ENSP00000359270:K162E;ENSP00000430175:K162E;ENSP00000210633:K162E	ENSP00000210633:K162E	K	+	1	0	SEMA4G	102728090	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.592000	0.90828	2.155000	0.67459	0.391000	0.25812	AAG		0.532	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2		
SEMA4G	57715	hgsc.bcm.edu	37	10	102738345	102738345	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr10:102738345C>T	ENST00000370250.4	+	6	964	c.591C>T	c.(589-591)agC>agT	p.S197S	RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000210633.3_Silent_p.S197S|SEMA4G_ENST00000519756.1_3'UTR|MRPL43_ENST00000318325.2_3'UTR|SEMA4G_ENST00000517724.1_Silent_p.S197S	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	197	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.S197S(1)		breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		TCCGCCGGAGCCGCCACCCAC	0.542																																					p.S197S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C591T	10						.						58.0	56.0	57.0					10																	102738345		2203	4300	6503	102728335	SO:0001819	synonymous_variant	57715	exon6			AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.591C>T	10.37:g.102738345C>T		Somatic		Capture	SOLID	Phase_I	102728335	NM_017893	A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Silent	SNP	ENST00000370250.4	37																																																																																					0.542	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2		
NT5C2	22978	hgsc.bcm.edu	37	10	104934674	104934674	+	Silent	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr10:104934674A>G	ENST00000404739.3	-	1	65	c.42T>C	c.(40-42)gaT>gaC	p.D14D	NT5C2_ENST00000369857.4_Intron|NT5C2_ENST00000470299.1_Silent_p.D14D|NT5C2_ENST00000343289.5_Silent_p.D14D			P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	14					cell death (GO:0008219)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|nucleobase-containing small molecule metabolic process (GO:0055086)|phosphorylation (GO:0016310)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleoside phosphotransferase activity (GO:0050146)|nucleotide binding (GO:0000166)	p.D14D(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	TAGCAGGCATATCTGCTGCAT	0.343																																					p.D14D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T42C	10						.						231.0	214.0	220.0					10																	104934674		2203	4300	6503	104924664	SO:0001819	synonymous_variant	22978	exon3			D38524	CCDS7544.1	10q24.32	2014-03-03	2002-04-18	2002-04-19	ENSG00000076685	ENSG00000076685			8022	protein-coding gene	gene with protein product	"""purine 5' nucleotidase"""	600417	"""5'-nucleotidase (purine), cytosolic type B"""	NT5B		7999131, 24482476	Standard	NM_012229		Approved	PNT5, GMP, cN-II, SPG65	uc001kwq.3	P49902	OTTHUMG00000018981	ENST00000404739.3:c.42T>C	10.37:g.104934674A>G		Somatic		Capture	SOLID	Phase_I	104924664	NM_012229	B7Z382|D3DR91|Q5JUV5	Silent	SNP	ENST00000404739.3	37	CCDS7544.1																																																																																				0.343	NT5C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050121.1	NM_012229	
INA	9118	hgsc.bcm.edu	37	10	105048220	105048220	+	Missense_Mutation	SNP	C	C	A	rs369981896		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr10:105048220C>A	ENST00000369849.4	+	3	1343	c.1294C>A	c.(1294-1296)Ctc>Atc	p.L432I		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	432	Tail.				cell differentiation (GO:0030154)|neurofilament cytoskeleton organization (GO:0060052)|substantia nigra development (GO:0021762)	cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular space (GO:0005615)|neurofilament (GO:0005883)	structural constituent of cytoskeleton (GO:0005200)	p.L432I(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		ACCTAGAATCCTCAGTGCTAC	0.507																																					p.L432I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1294A	10						.						126.0	120.0	122.0					10																	105048220		2203	4300	6503	105038210	SO:0001583	missense	9118	exon3			S78296	CCDS7545.1	10q24	2013-01-16			ENSG00000148798	ENSG00000148798		"""Intermediate filaments type IV"""	6057	protein-coding gene	gene with protein product		605338		NEF5		7769995	Standard	NM_032727		Approved	NF-66	uc001kws.3	Q16352	OTTHUMG00000018986	ENST00000369849.4:c.1294C>A	10.37:g.105048220C>A	ENSP00000358865:p.Leu432Ile	Somatic		Capture	SOLID	Phase_I	105038210	NM_032727	B1AQK0|Q9BRC5	Missense_Mutation	SNP	ENST00000369849.4	37	CCDS7545.1	.	.	.	.	.	.	.	.	.	.	C	4.302	0.055368	0.08291	.	.	ENSG00000148798	ENST00000369849	D	0.82984	-1.67	5.17	3.18	0.36537	.	0.318051	0.30602	N	0.009273	T	0.64886	0.2639	N	0.14661	0.345	0.29424	N	0.860327	B	0.16603	0.018	B	0.14578	0.011	T	0.53315	-0.8456	10	0.16420	T	0.52	.	7.9342	0.29920	0.0:0.7512:0.0:0.2488	.	432	Q16352	AINX_HUMAN	I	432	ENSP00000358865:L432I	ENSP00000358865:L432I	L	+	1	0	INA	105038210	0.956000	0.32656	1.000000	0.80357	0.989000	0.77384	0.818000	0.27295	1.421000	0.47157	0.555000	0.69702	CTC		0.507	INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050145.1	NM_032727	
TCF7L2	6934	hgsc.bcm.edu	37	10	114925320	114925320	+	Silent	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr10:114925320A>G	ENST00000355995.4	+	15	1956	c.1449A>G	c.(1447-1449)aaA>aaG	p.K483K	TCF7L2_ENST00000369397.4_Silent_p.K460K|TCF7L2_ENST00000352065.5_3'UTR|TCF7L2_ENST00000542695.1_Silent_p.K199K|TCF7L2_ENST00000543371.1_Silent_p.K466K|TCF7L2_ENST00000355717.4_Missense_Mutation_p.K466R|TCF7L2_ENST00000536810.1_Silent_p.K466K|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000545257.1_Silent_p.K483K|TCF7L2_ENST00000369389.1_Missense_Mutation_p.K153R|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000538897.1_Missense_Mutation_p.K459R			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	483	Promoter-specific activation domain.				blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CTAGGAGAAAAAAAAAGTGCG	0.517			T	VTI1A	colorectal																																p.K432R			Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	.	.	0			c.A1295G	10						.						96.0	104.0	101.0					10																	114925320		2203	4300	6503	114915310	SO:0001819	synonymous_variant	6934	exon13			X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.1449A>G	10.37:g.114925320A>G		Somatic		Capture	SOLID	Phase_I	114915310	NM_001146284	B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Silent	SNP	ENST00000355995.4	37		.	.	.	.	.	.	.	.	.	.	A	23.6	4.436896	0.83885	.	.	ENSG00000148737	ENST00000355717;ENST00000538897;ENST00000369389	D;D;D	0.99214	-5.56;-5.57;-5.54	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.98071	0.9364	.	.	.	0.80722	D	1	P;B;B;B;P;B;B	0.49447	0.863;0.0;0.0;0.0;0.924;0.001;0.006	B;B;B;B;B;B;B	0.40009	0.316;0.0;0.0;0.0;0.258;0.006;0.005	D	0.98446	1.0589	9	0.54805	T	0.06	-28.9947	15.5612	0.76249	1.0:0.0:0.0:0.0	.	358;419;385;442;436;466;432	B4DWD5;B4DRJ8;C6ZRK2;B9X074;C6ZRK1;F8W7T5;Q9NQB0-10	.;.;.;.;.;.;.	R	466;459;153	ENSP00000347949:K466R;ENSP00000446172:K459R;ENSP00000358396:K153R	ENSP00000347949:K466R	K	+	2	0	TCF7L2	114915310	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.966000	0.70395	2.069000	0.61940	0.533000	0.62120	AAA		0.517	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756	
UPF2	26019	hgsc.bcm.edu	37	10	12001289	12001289	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr10:12001289C>T	ENST00000356352.2	-	11	2724	c.2251G>A	c.(2251-2253)Gca>Aca	p.A751T	UPF2_ENST00000357604.5_Missense_Mutation_p.A751T|UPF2_ENST00000397053.2_Missense_Mutation_p.A751T			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	751	MIF4G 2.|Sufficient for interaction with UPF3A and UPF3B.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.A751T(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TAGTAATATGCATTCTCTACC	0.403																																					p.A751T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2251A	10						.						215.0	171.0	186.0					10																	12001289		2203	4300	6503	12041295	SO:0001583	missense	26019	exon12			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.2251G>A	10.37:g.12001289C>T	ENSP00000348708:p.Ala751Thr	Somatic		Capture	SOLID	Phase_I	12041295	NM_080599	A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	C	31	5.065927	0.93898	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053	T;T;T	0.21734	1.99;1.99;1.99	5.12	5.12	0.69794	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.49541	0.1563	M	0.82132	2.575	0.80722	D	1	D	0.60575	0.988	D	0.66084	0.941	T	0.55068	-0.8198	10	0.66056	D	0.02	.	18.5419	0.91031	0.0:1.0:0.0:0.0	.	751	Q9HAU5	RENT2_HUMAN	T	751	ENSP00000348708:A751T;ENSP00000350221:A751T;ENSP00000380244:A751T	ENSP00000348708:A751T	A	-	1	0	UPF2	12041295	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.453000	0.80700	2.391000	0.81399	0.585000	0.79938	GCA		0.403	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1		
PDZD8	118987	hgsc.bcm.edu	37	10	119043968	119043968	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr10:119043968G>A	ENST00000334464.5	-	5	2515	c.2276C>T	c.(2275-2277)gCc>gTc	p.A759V	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	759					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)	p.A759V(1)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		AGGTGAGGGGGCTTCCAGTCT	0.418																																					p.A759V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2276T	10						.						128.0	114.0	119.0					10																	119043968		2203	4300	6503	119033958	SO:0001583	missense	118987	exon5			AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.2276C>T	10.37:g.119043968G>A	ENSP00000334642:p.Ala759Val	Somatic		Capture	SOLID	Phase_I	119033958	NM_173791	Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	37	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.664717	0.67700	.	.	ENSG00000165650	ENST00000334464	D	0.86769	-2.17	5.96	5.96	0.96718	.	0.113339	0.64402	D	0.000013	D	0.84074	0.5392	L	0.29908	0.895	0.43360	D	0.995434	P	0.46706	0.883	B	0.42827	0.399	D	0.84944	0.0867	10	0.54805	T	0.06	-3.8266	20.4116	0.99017	0.0:0.0:1.0:0.0	.	759	Q8NEN9	PDZD8_HUMAN	V	759	ENSP00000334642:A759V	ENSP00000334642:A759V	A	-	2	0	PDZD8	119033958	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.827000	0.97445	0.655000	0.94253	GCC		0.418	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791	
SEC23IP	11196	hgsc.bcm.edu	37	10	121693224	121693224	+	Missense_Mutation	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr10:121693224T>C	ENST00000369075.3	+	18	3020	c.2948T>C	c.(2947-2949)cTa>cCa	p.L983P	SEC23IP_ENST00000543134.1_Missense_Mutation_p.L772P|SEC23IP_ENST00000475542.1_3'UTR	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	983	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.L983P(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		GCTCTGTTACTACTTAAAGAA	0.318																																					p.L983P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2948C	10						.						80.0	74.0	76.0					10																	121693224		2203	4299	6502	121683214	SO:0001583	missense	11196	exon18			AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.2948T>C	10.37:g.121693224T>C	ENSP00000358071:p.Leu983Pro	Somatic		Capture	SOLID	Phase_I	121683214	NM_007190	D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	T	17.78	3.472675	0.63737	.	.	ENSG00000107651	ENST00000369075;ENST00000543134	T;T	0.36340	1.26;1.28	4.57	3.41	0.39046	DDHD (2);	0.358116	0.27185	N	0.020532	T	0.55242	0.1908	M	0.71581	2.175	0.80722	D	1	D;D	0.69078	0.974;0.997	P;D	0.67725	0.748;0.953	T	0.57573	-0.7788	10	0.87932	D	0	-8.1844	11.4827	0.50335	0.0:0.0:0.1508:0.8492	.	772;983	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	P	983;772	ENSP00000358071:L983P;ENSP00000438773:L772P	ENSP00000358071:L983P	L	+	2	0	SEC23IP	121683214	1.000000	0.71417	0.792000	0.32020	0.848000	0.48234	7.299000	0.78831	0.686000	0.31488	-0.316000	0.08728	CTA		0.318	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1		
BUB3	9184	hgsc.bcm.edu	37	10	124922211	124922211	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr10:124922211G>A	ENST00000368865.4	+	7	1047	c.838G>A	c.(838-840)Gca>Aca	p.A280T	BUB3_ENST00000538238.1_Missense_Mutation_p.A200T|BUB3_ENST00000368859.2_Intron|BUB3_ENST00000368858.5_Missense_Mutation_p.A280T|BUB3_ENST00000481952.1_3'UTR	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN	BUB3 mitotic checkpoint protein	280					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|regulation of chromosome segregation (GO:0051983)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly checkpoint (GO:0071173)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)		p.A280T(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				CACGAGCATCGCATCACTTGC	0.413																																					p.A280T	GBM(161;1111 1985 17553 20049 26037)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G838A	10						.						129.0	117.0	121.0					10																	124922211		2203	4300	6503	124912201	SO:0001583	missense	9184	exon7			AF053304	CCDS7635.1, CCDS31306.1	10q24	2013-01-17	2013-01-17		ENSG00000154473	ENSG00000154473		"""WD repeat domain containing"""	1151	protein-coding gene	gene with protein product		603719	"""BUB3 (budding uninhibited by benzimidazoles 3, yeast) homolog"", ""budding uninhibited by benzimidazoles 3 homolog (yeast)"""			9660858	Standard	NM_004725		Approved	BUB3L	uc001lhe.2	O43684	OTTHUMG00000019197	ENST00000368865.4:c.838G>A	10.37:g.124922211G>A	ENSP00000357858:p.Ala280Thr	Somatic		Capture	SOLID	Phase_I	124912201	NM_001007793	A6NJ42|B2R6E7|D3DRE9|O43685	Missense_Mutation	SNP	ENST00000368865.4	37	CCDS7635.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674986	0.88445	.	.	ENSG00000154473	ENST00000368865;ENST00000538238;ENST00000368858	T;T;T	0.67523	-0.27;1.8;-0.27	5.4	5.4	0.78164	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.59362	0.2188	M	0.64567	1.98	0.80722	D	1	P;B	0.35793	0.521;0.341	B;B	0.21917	0.037;0.029	T	0.60806	-0.7190	10	0.09590	T	0.72	-2.7588	19.5343	0.95242	0.0:0.0:1.0:0.0	.	280;280	O43684;O43684-2	BUB3_HUMAN;.	T	280;200;280	ENSP00000357858:A280T;ENSP00000444354:A200T;ENSP00000357851:A280T	ENSP00000357851:A280T	A	+	1	0	BUB3	124912201	1.000000	0.71417	0.919000	0.36401	0.997000	0.91878	7.802000	0.85969	2.684000	0.91462	0.650000	0.86243	GCA		0.413	BUB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050835.1		
CAMK1D	57118	hgsc.bcm.edu	37	10	12595345	12595345	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr10:12595345G>A	ENST00000378847.3	+	2	551	c.214G>A	c.(214-216)Gtc>Atc	p.V72I	CAMK1D_ENST00000378845.1_Missense_Mutation_p.V72I|CAMK1D_ENST00000487696.1_Intron	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	72	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.V72I(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		TGAGATAGCCGTCCTGAGAAA	0.562																																					p.V72I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G214A	10						.						111.0	100.0	104.0					10																	12595345		2203	4300	6503	12635351	SO:0001583	missense	57118	exon2			AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.214G>A	10.37:g.12595345G>A	ENSP00000368124:p.Val72Ile	Somatic		Capture	SOLID	Phase_I	12635351	NM_020397	B0YIY0|Q9HD31	Missense_Mutation	SNP	ENST00000378847.3	37	CCDS7091.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.097101	0.56075	.	.	ENSG00000183049	ENST00000378847;ENST00000378845	T;T	0.64085	-0.08;-0.08	4.98	4.98	0.66077	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.068182	0.56097	D	0.000022	T	0.35364	0.0929	N	0.01751	-0.74	0.80722	D	1	B;B	0.22983	0.078;0.018	B;B	0.19391	0.025;0.021	T	0.31194	-0.9952	10	0.12766	T	0.61	-14.8048	16.8815	0.86064	0.0:0.0:1.0:0.0	.	72;72	Q8IU85;Q5SQQ7	KCC1D_HUMAN;.	I	72	ENSP00000368124:V72I;ENSP00000368122:V72I	ENSP00000368122:V72I	V	+	1	0	CAMK1D	12635351	1.000000	0.71417	0.936000	0.37596	0.875000	0.50365	9.392000	0.97252	2.296000	0.77279	0.456000	0.33151	GTC		0.562	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1	NM_020397	
CPXM2	119587	hgsc.bcm.edu	37	10	125506381	125506381	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr10:125506381C>T	ENST00000241305.3	-	14	2324	c.2170G>A	c.(2170-2172)Gcc>Acc	p.A724T	CPXM2_ENST00000368854.3_Intron	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	724					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.A724T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGGATCCTGGCCATGTTGGTT	0.567																																					p.A724T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2170A	10						.						130.0	120.0	123.0					10																	125506381		2203	4300	6503	125496371	SO:0001583	missense	119587	exon14			AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.2170G>A	10.37:g.125506381C>T	ENSP00000241305:p.Ala724Thr	Somatic		Capture	SOLID	Phase_I	125496371	NM_198148	B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.620437	0.46736	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	T	0.13657	2.57	5.24	4.33	0.51752	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.062950	0.64402	D	0.000004	T	0.17152	0.0412	L	0.51422	1.61	0.80722	D	1	B	0.30793	0.295	B	0.36666	0.23	T	0.03981	-1.0987	10	0.21014	T	0.42	-11.806	15.9265	0.79621	0.0:0.8646:0.1354:0.0	.	724	Q8N436	CPXM2_HUMAN	T	724;557;699	ENSP00000241305:A724T	ENSP00000241305:A724T	A	-	1	0	CPXM2	125496371	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	1.913000	0.39956	1.417000	0.47077	0.655000	0.94253	GCC		0.567	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148	
C10orf90	118611	hgsc.bcm.edu	37	10	128192680	128192680	+	Silent	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr10:128192680A>G	ENST00000284694.7	-	3	1209	c.1089T>C	c.(1087-1089)agT>agC	p.S363S	C10orf90_ENST00000392694.1_Silent_p.S316S|C10orf90_ENST00000356858.3_Silent_p.S316S|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000454341.1_Silent_p.S363S|C10orf90_ENST00000544758.1_Silent_p.S460S	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	363					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.S363S(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		GAAAAGAACCACTCCAAGGAC	0.498											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S363S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1089C	10						.						113.0	101.0	105.0					10																	128192680		2203	4300	6503	128182670	SO:0001819	synonymous_variant	118611	exon3			BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.1089T>C	10.37:g.128192680A>G		Somatic	1563	Capture	SOLID	Phase_I	128182670	NM_001004298	B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Silent	SNP	ENST00000284694.7	37	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	A	6.120	0.390464	0.11581	.	.	ENSG00000154493	ENST00000424927	.	.	.	5.06	-5.16	0.02857	.	.	.	.	.	T	0.17959	0.0431	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.23833	-1.0177	4	.	.	.	-3.0544	2.7717	0.05336	0.1112:0.3943:0.1837:0.3108	.	.	.	.	A	3	.	.	V	-	2	0	C10orf90	128182670	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.200000	0.09478	-1.307000	0.02321	-0.297000	0.09499	GTG		0.498	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298	
SFMBT2	57713	hgsc.bcm.edu	37	10	7326094	7326094	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr10:7326094G>A	ENST00000361972.4	-	6	634	c.544C>T	c.(544-546)Cct>Tct	p.P182S	SFMBT2_ENST00000397167.1_Missense_Mutation_p.P182S	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	182					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.P182S(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						AGGTCTATAGGGCCTTTCCCT	0.378																																					p.P182S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C544T	10						.						72.0	71.0	71.0					10																	7326094		2202	4300	6502	7366100	SO:0001583	missense	57713	exon6			AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.544C>T	10.37:g.7326094G>A	ENSP00000355109:p.Pro182Ser	Somatic		Capture	SOLID	Phase_I	7366100	NM_001029880	A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	g	14.17	2.456484	0.43634	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.44083	0.93;0.93	4.45	4.45	0.53987	.	0.100683	0.64402	D	0.000002	T	0.46249	0.1383	M	0.67397	2.05	0.80722	D	1	B	0.27316	0.175	B	0.34991	0.193	T	0.41395	-0.9511	10	0.17832	T	0.49	.	17.4436	0.87572	0.0:0.0:1.0:0.0	.	182	Q5VUG0	SMBT2_HUMAN	S	182	ENSP00000355109:P182S;ENSP00000380353:P182S	ENSP00000355109:P182S	P	-	1	0	SFMBT2	7366100	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.915000	0.69973	2.195000	0.70347	0.431000	0.28591	CCT		0.378	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880	
FAM107B	83641	hgsc.bcm.edu	37	10	14816377	14816377	+	Missense_Mutation	SNP	G	G	A	rs545803258		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr10:14816377G>A	ENST00000181796.2	-	1	519	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	0					sensory perception of sound (GO:0007605)			p.R96C(1)		breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCCGCAGTGCGGTGACTTGAA	0.592																																					p.R96C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C286T	10						.						155.0	152.0	153.0					10																	14816377		2203	4300	6503	14856383	SO:0001583	missense	83641	exon1			AK127413	CCDS7102.1, CCDS60486.1	10p14	2006-01-17	2006-01-17	2005-11-20	ENSG00000065809	ENSG00000065809			23726	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 45"""	C10orf45		11230166	Standard	XM_005252616		Approved	FLJ45505, MGC11034	uc001ina.1	Q9H098	OTTHUMG00000017709	ENST00000181796.2:c.286C>T	10.37:g.14816377G>A	ENSP00000181796:p.Arg96Cys	Somatic		Capture	SOLID	Phase_I	14856383	NM_031453	A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4	Missense_Mutation	SNP	ENST00000181796.2	37	CCDS7102.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.568902	0.28003	.	.	ENSG00000065809	ENST00000181796	T	0.49720	0.77	5.09	5.09	0.68999	.	0.156840	0.29722	N	0.011378	T	0.32675	0.0837	N	0.14661	0.345	0.80722	D	1	D	0.54772	0.968	B	0.39840	0.311	T	0.38045	-0.9679	10	0.87932	D	0	-17.2938	16.4355	0.83873	0.0:0.0:1.0:0.0	.	96	Q9H098-2	.	C	96	ENSP00000181796:R96C	ENSP00000181796:R96C	R	-	1	0	FAM107B	14856383	0.683000	0.27633	0.019000	0.16419	0.002000	0.02628	4.466000	0.60148	2.634000	0.89283	0.655000	0.94253	CGC		0.592	FAM107B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356966.1	NM_031453	
NMT2	9397	hgsc.bcm.edu	37	10	15170359	15170359	+	Missense_Mutation	SNP	C	C	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr10:15170359C>A	ENST00000378165.4	-	8	1069	c.989G>T	c.(988-990)aGa>aTa	p.R330I	RPP38_ENST00000451677.1_Intron|NMT2_ENST00000378150.1_Missense_Mutation_p.R317I|NMT2_ENST00000535341.1_Missense_Mutation_p.R317I|NMT2_ENST00000540259.1_Missense_Mutation_p.R142I	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	330					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)	p.R330I(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						ATCTGGAAGTCTGTATAGCTT	0.343																																					p.R330I	Melanoma(117;1345 1645 4130 12688 30625)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G989T	10						.						77.0	78.0	78.0					10																	15170359		2202	4299	6501	15210365	SO:0001583	missense	9397	exon8			AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.989G>T	10.37:g.15170359C>A	ENSP00000367407:p.Arg330Ile	Somatic		Capture	SOLID	Phase_I	15210365	NM_004808	B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Missense_Mutation	SNP	ENST00000378165.4	37	CCDS7109.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.946890	0.92593	.	.	ENSG00000152465	ENST00000378165;ENST00000378150;ENST00000378143;ENST00000540259;ENST00000535341	T	0.46451	0.87	5.58	5.58	0.84498	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70360	0.3215	M	0.89095	3.005	0.80722	D	1	D;D;D	0.62365	0.991;0.983;0.991	P;D;P	0.63877	0.904;0.919;0.904	T	0.76293	-0.3012	10	0.87932	D	0	-23.372	19.5703	0.95409	0.0:1.0:0.0:0.0	.	330;317;330	B2RCF3;Q5VUC6;O60551	.;.;NMT2_HUMAN	I	330;317;361;142;317	ENSP00000367407:R330I	ENSP00000367385:R361I	R	-	2	0	NMT2	15210365	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.818000	0.86416	2.617000	0.88574	0.655000	0.94253	AGA		0.343	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046958.2	NM_004808	
FAM171A1	221061	hgsc.bcm.edu	37	10	15255311	15255311	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr10:15255311G>A	ENST00000378116.4	-	8	2282	c.2276C>T	c.(2275-2277)gCt>gTt	p.A759V	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	759						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.A759V(1)		breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CAGAGACAAAGCATCTCCCCT	0.547																																					p.A759V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2276T	10						.						123.0	84.0	97.0					10																	15255311		2203	4300	6503	15295317	SO:0001583	missense	221061	exon8			AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.2276C>T	10.37:g.15255311G>A	ENSP00000367356:p.Ala759Val	Somatic		Capture	SOLID	Phase_I	15295317	NM_001010924	D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	G	5.462	0.270324	0.10349	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.30981	1.51	5.25	4.28	0.50868	.	0.469684	0.23629	N	0.046151	T	0.15478	0.0373	N	0.08118	0	0.22896	N	0.998591	B	0.06786	0.001	B	0.08055	0.003	T	0.11155	-1.0599	10	0.29301	T	0.29	-15.4222	11.1383	0.48388	0.0:0.0:0.645:0.355	.	759	Q5VUB5	F1711_HUMAN	V	759;758	ENSP00000367356:A759V	ENSP00000367356:A759V	A	-	2	0	FAM171A1	15295317	1.000000	0.71417	1.000000	0.80357	0.079000	0.17450	4.294000	0.59043	2.724000	0.93272	0.563000	0.77884	GCT		0.547	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709	
CUBN	8029	hgsc.bcm.edu	37	10	17113929	17113929	+	Silent	SNP	G	G	A	rs149758972		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr10:17113929G>A	ENST00000377833.4	-	18	2408	c.2343C>T	c.(2341-2343)aaC>aaT	p.N781N		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	781	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.N781N(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGATGGTTCCGTTGCCACAGA	0.353																																					p.N781N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2343T	10						.	G		0,4406		0,0,2203	54.0	51.0	52.0		2343	0.5	0.1	10	dbSNP_134	52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CUBN	NM_001081.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		781/3624	17113929	1,13005	2203	4300	6503	17153935	SO:0001819	synonymous_variant	8029	exon18			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.2343C>T	10.37:g.17113929G>A		Somatic		Capture	SOLID	Phase_I	17153935	NM_001081	B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	CCDS7113.1																																																																																				0.353	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	
CACNB2	783	hgsc.bcm.edu	37	10	18828276	18828276	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr10:18828276G>A	ENST00000324631.7	+	14	1666	c.1606G>A	c.(1606-1608)Gcc>Acc	p.A536T	RP11-499P20.2_ENST00000436485.1_RNA|CACNB2_ENST00000282343.8_Missense_Mutation_p.A508T|CACNB2_ENST00000377331.2_Missense_Mutation_p.A484T|CACNB2_ENST00000377329.4_Missense_Mutation_p.A482T|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377328.1_Missense_Mutation_p.A286T|CACNB2_ENST00000377319.3_Missense_Mutation_p.A443T|CACNB2_ENST00000352115.6_Missense_Mutation_p.A512T|CACNB2_ENST00000396576.2_Missense_Mutation_p.A481T|CACNB2_ENST00000377315.4_Missense_Mutation_p.A488T	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	536					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)	p.A481T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TTCCTCCTCAGCCCCACACCA	0.562																																					p.A536T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1606A	10						.						84.0	80.0	81.0					10																	18828276		2203	4300	6503	18868282	SO:0001583	missense	783	exon14			U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.1606G>A	10.37:g.18828276G>A	ENSP00000320025:p.Ala536Thr	Somatic		Capture	SOLID	Phase_I	18868282	NM_201596	A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656332	0.47467	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;T;D;D;T;D;D;D;D	0.82619	-1.62;2.02;-1.63;-1.62;2.02;-1.62;-1.63;-1.62;-1.63	5.48	4.57	0.56435	.	0.613655	0.17913	N	0.157763	T	0.69940	0.3167	N	0.14661	0.345	0.34004	D	0.650651	B;P;D;P;B;P;P;B;B;P;B;B;P	0.58970	0.004;0.682;0.984;0.518;0.215;0.649;0.518;0.0;0.001;0.787;0.001;0.002;0.682	B;B;P;B;B;B;B;B;B;B;B;B;B	0.46885	0.012;0.114;0.53;0.114;0.101;0.228;0.164;0.0;0.002;0.228;0.001;0.009;0.114	T	0.70414	-0.4878	10	0.15066	T	0.55	-14.5356	7.5939	0.28037	0.1448:0.0:0.7191:0.1361	.	450;508;286;488;458;482;492;443;484;508;498;512;536	B7Z1U5;Q5QJA0;A6PVM6;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	T	536;512;286;508;484;481;443;482;488	ENSP00000320025:A536T;ENSP00000344474:A512T;ENSP00000366545:A286T;ENSP00000282343:A508T;ENSP00000366548:A484T;ENSP00000379821:A481T;ENSP00000366536:A443T;ENSP00000366546:A482T;ENSP00000366532:A488T	ENSP00000282343:A508T	A	+	1	0	CACNB2	18868282	1.000000	0.71417	0.939000	0.37840	0.967000	0.64934	4.828000	0.62730	1.324000	0.45282	0.655000	0.94253	GCC		0.562	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724	
GAD2	2572	hgsc.bcm.edu	37	10	26507984	26507984	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr10:26507984C>T	ENST00000376261.3	+	4	802	c.299C>T	c.(298-300)gCg>gTg	p.A100V	GAD2_ENST00000376248.1_5'UTR|GAD2_ENST00000259271.3_Missense_Mutation_p.A100V	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	100					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)	p.A100V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CTGCTGCCGGCGTGTGATGGA	0.358																																					p.A100V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C299T	10						.						82.0	79.0	80.0					10																	26507984		2203	4300	6503	26547990	SO:0001583	missense	2572	exon4			AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.299C>T	10.37:g.26507984C>T	ENSP00000365437:p.Ala100Val	Somatic		Capture	SOLID	Phase_I	26547990	NM_001134366	Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.370017	0.42003	.	.	ENSG00000136750	ENST00000376261;ENST00000259271;ENST00000428517	T;T;T	0.60040	0.22;0.22;0.22	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.61702	0.2368	M	0.73962	2.25	0.80722	D	1	P;P	0.52170	0.951;0.7	P;B	0.44477	0.451;0.028	T	0.63985	-0.6513	10	0.37606	T	0.19	-16.4134	15.4448	0.75220	0.1393:0.8607:0.0:0.0	.	100;100	Q4G154;Q05329	.;DCE2_HUMAN	V	100	ENSP00000365437:A100V;ENSP00000259271:A100V;ENSP00000390434:A100V	ENSP00000259271:A100V	A	+	2	0	GAD2	26547990	1.000000	0.71417	0.632000	0.29296	0.371000	0.29859	5.676000	0.68131	2.683000	0.91414	0.655000	0.94253	GCG		0.358	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818	
EPC1	80314	hgsc.bcm.edu	37	10	32594825	32594825	+	Missense_Mutation	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr10:32594825T>C	ENST00000263062.8	-	2	457	c.188A>G	c.(187-189)cAg>cGg	p.Q63R	EPC1_ENST00000375110.2_Missense_Mutation_p.Q13R|EPC1_ENST00000319778.6_Missense_Mutation_p.Q63R	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	63					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)		p.Q63R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				GCCATACACCTGCTGTGCTGA	0.378																																					p.Q63R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A188G	10						.						98.0	96.0	97.0					10																	32594825		2203	4300	6503	32634831	SO:0001583	missense	80314	exon2			AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.188A>G	10.37:g.32594825T>C	ENSP00000263062:p.Gln63Arg	Somatic		Capture	SOLID	Phase_I	32634831	NM_025209	B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	ENST00000263062.8	37	CCDS7172.1	.	.	.	.	.	.	.	.	.	.	T	32	5.148821	0.94603	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	T;T;T	0.46451	0.87;0.87;0.87	5.45	5.45	0.79879	Enhancer of polycomb-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.63189	0.2490	M	0.73598	2.24	0.80722	D	1	D;D;D;P	0.58970	0.972;0.975;0.984;0.949	D;P;D;P	0.64144	0.922;0.644;0.922;0.824	T	0.67138	-0.5746	10	0.62326	D	0.03	-7.883	15.5187	0.75846	0.0:0.0:0.0:1.0	.	63;13;63;63	B8XCX7;Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;.;EPC1_HUMAN	R	13;63;63	ENSP00000364251:Q13R;ENSP00000318559:Q63R;ENSP00000263062:Q63R	ENSP00000263062:Q63R	Q	-	2	0	EPC1	32634831	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.061000	0.61500	0.482000	0.46254	CAG		0.378	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1		
ERCC6	2074	hgsc.bcm.edu	37	10	50681527	50681527	+	Missense_Mutation	SNP	T	T	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr10:50681527T>A	ENST00000355832.5	-	14	2783	c.2705A>T	c.(2704-2706)aAt>aTt	p.N902I	ERCC6_ENST00000542458.1_Missense_Mutation_p.N272I|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	902	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)	p.N902I(1)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TGTTACCTCATTGTATCTCGT	0.443								Direct reversal of damage;Nucleotide excision repair (NER)																													p.N902I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2705T	10						.						371.0	243.0	287.0					10																	50681527		2203	4300	6503	50351533	SO:0001583	missense	2074	exon14			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.2705A>T	10.37:g.50681527T>A	ENSP00000348089:p.Asn902Ile	Somatic		Capture	SOLID	Phase_I	50351533	NM_000124	D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.048526	0.93740	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	T;T	0.78246	-1.16;-1.16	5.69	5.69	0.88448	Helicase, C-terminal (3);	.	.	.	.	D	0.93618	0.7962	H	0.99454	4.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96408	0.9302	9	0.87932	D	0	-28.1938	15.9482	0.79809	0.0:0.0:0.0:1.0	.	902;279	Q03468;Q59FF6	ERCC6_HUMAN;.	I	902;279;272	ENSP00000348089:N902I;ENSP00000445134:N272I	ENSP00000348089:N902I	N	-	2	0	ERCC6	50351533	1.000000	0.71417	0.988000	0.46212	0.955000	0.61496	8.040000	0.89188	2.163000	0.67991	0.482000	0.46254	AAT		0.443	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124	
PCDH15	65217	hgsc.bcm.edu	37	10	55700647	55700647	+	Missense_Mutation	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr10:55700647T>C	ENST00000320301.6	-	24	3605	c.3211A>G	c.(3211-3213)Att>Gtt	p.I1071V	PCDH15_ENST00000395430.1_Missense_Mutation_p.I1071V|PCDH15_ENST00000395433.1_Missense_Mutation_p.I1049V|PCDH15_ENST00000437009.1_Missense_Mutation_p.I1000V|PCDH15_ENST00000409834.1_Missense_Mutation_p.I682V|PCDH15_ENST00000373965.2_Missense_Mutation_p.I1078V|PCDH15_ENST00000361849.3_Missense_Mutation_p.I1071V|PCDH15_ENST00000414778.1_Missense_Mutation_p.I1076V|PCDH15_ENST00000395432.2_Missense_Mutation_p.I1034V|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.I1071V|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.I1078V	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1071	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.I1071V(1)|p.I1076V(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCTGAAACAATGGAGTACACA	0.393										HNSCC(58;0.16)																											p.I1034V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3100G	10						.						98.0	93.0	95.0					10																	55700647		2203	4300	6503	55370653	SO:0001583	missense	65217	exon23			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3211A>G	10.37:g.55700647T>C	ENSP00000322604:p.Ile1071Val	Somatic		Capture	SOLID	Phase_I	55370653	NM_001142767	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.957271	0.73902	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31	5.37	5.37	0.77165	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.76271	0.3964	M	0.81802	2.56	0.58432	D	0.999997	P;D;D;D;D;D;P;D;D;D;D;D;D	0.89917	0.951;0.999;0.997;1.0;0.996;0.999;0.951;0.996;0.998;0.998;0.995;0.998;0.999	D;D;D;D;D;D;D;D;D;D;D;D;D	0.87578	0.989;0.997;0.99;0.997;0.998;0.994;0.989;0.998;0.998;0.998;0.981;0.998;0.998	T	0.79899	-0.1608	9	0.87932	D	0	.	13.1825	0.59663	0.0:0.0:0.0:1.0	.	1049;1071;1071;1076;1000;1034;1071;1071;1078;1078;1071;1076;1071	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	V	1078;1076;1071;1071;682;1078;1034;1071;1049;1071;1071;1076;1000	ENSP00000363076:I1078V;ENSP00000410304:I1076V;ENSP00000378826:I1071V;ENSP00000386693:I682V;ENSP00000378832:I1078V;ENSP00000378820:I1034V;ENSP00000354950:I1071V;ENSP00000378821:I1049V;ENSP00000322604:I1071V;ENSP00000378818:I1071V;ENSP00000412628:I1000V	ENSP00000322604:I1071V	I	-	1	0	PCDH15	55370653	1.000000	0.71417	0.998000	0.56505	0.819000	0.46315	5.485000	0.66850	2.158000	0.67659	0.477000	0.44152	ATT		0.393	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	
MYOZ1	58529	hgsc.bcm.edu	37	10	75394351	75394351	+	Missense_Mutation	SNP	C	C	G	rs201988548		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr10:75394351C>G	ENST00000359322.4	-	4	757	c.393G>C	c.(391-393)caG>caC	p.Q131H		NM_021245.3	NP_067068.1			myozenin 1									p.Q131H(1)		central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					GATGGTGCTGCTGATCAGAGC	0.652																																					p.Q131H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G393C	10						.						68.0	68.0	68.0					10																	75394351		2203	4300	6503	75064357	SO:0001583	missense	58529	exon4			AF240633	CCDS7330.1	10q22.1	2008-07-03	2002-01-10	2002-01-11	ENSG00000177791	ENSG00000177791			13752	protein-coding gene	gene with protein product	"""calsarcin-2"""	605603	"""myozenin"""	MYOZ		11171996, 10984498	Standard	NM_021245		Approved	FATZ, CS-2	uc001jur.4	Q9NP98	OTTHUMG00000018466	ENST00000359322.4:c.393G>C	10.37:g.75394351C>G	ENSP00000352272:p.Gln131His	Somatic		Capture	SOLID	Phase_I	75064357	NM_021245		Missense_Mutation	SNP	ENST00000359322.4	37	CCDS7330.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.265866	0.40095	.	.	ENSG00000177791	ENST00000359322	T	0.64618	-0.11	5.81	-1.47	0.08772	.	0.493064	0.24803	N	0.035480	T	0.35711	0.0941	N	0.19112	0.55	0.22896	N	0.998592	B	0.02656	0.0	B	0.04013	0.001	T	0.07328	-1.0778	10	0.38643	T	0.18	2.0046	2.0523	0.03574	0.2887:0.2994:0.2754:0.1365	.	131	Q9NP98	MYOZ1_HUMAN	H	131	ENSP00000352272:Q131H	ENSP00000352272:Q131H	Q	-	3	2	MYOZ1	75064357	0.848000	0.29623	0.994000	0.49952	0.923000	0.55619	-0.127000	0.10547	-0.002000	0.14469	0.655000	0.94253	CAG		0.652	MYOZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048654.1		
POLR3A	11128	hgsc.bcm.edu	37	10	79767529	79767529	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr10:79767529G>A	ENST00000372371.3	-	15	2142	c.2005C>T	c.(2005-2007)Cga>Tga	p.R669*		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	669					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)	p.R669*(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CCCCAGTCTCGCAGCAAAATG	0.468																																					p.R669X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2005T	10						.						110.0	104.0	106.0					10																	79767529		2203	4300	6503	79437535	SO:0001587	stop_gained	11128	exon15			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.2005C>T	10.37:g.79767529G>A	ENSP00000361446:p.Arg669*	Somatic		Capture	SOLID	Phase_I	79437535	NM_007055	Q8IW34|Q8TCW5	Nonsense_Mutation	SNP	ENST00000372371.3	37	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	G	41	8.555121	0.98861	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	.	.	.	5.49	4.5	0.54988	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.3069	15.3971	0.74805	0.0:0.0:0.8126:0.1873	.	.	.	.	X	669	.	.	R	-	1	2	POLR3A	79437535	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.901000	0.48695	2.582000	0.87167	0.655000	0.94253	CGA		0.468	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055	
ZMIZ1	57178	hgsc.bcm.edu	37	10	81056259	81056259	+	Missense_Mutation	SNP	A	A	C	rs147952022		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr10:81056259A>C	ENST00000334512.5	+	13	1834	c.1262A>C	c.(1261-1263)aAc>aCc	p.N421T	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	421	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.N421T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			TATGGACCAAACAGCCAGTTC	0.602																																					p.N421T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1262C	10						.						126.0	125.0	125.0					10																	81056259		2203	4300	6503	80726265	SO:0001583	missense	57178	exon13			AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.1262A>C	10.37:g.81056259A>C	ENSP00000334474:p.Asn421Thr	Somatic		Capture	SOLID	Phase_I	80726265	NM_020338	Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	A	11.62	1.692943	0.30052	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347	T	0.31247	1.5	4.96	3.83	0.44106	.	0.144226	0.30185	N	0.010216	T	0.23727	0.0574	L	0.54323	1.7	0.80722	D	1	B	0.33135	0.399	B	0.29524	0.103	T	0.03662	-1.1015	10	0.19147	T	0.46	-12.5046	7.7852	0.29087	0.8374:0.0:0.1626:0.0	.	421	Q9ULJ6	ZMIZ1_HUMAN	T	421;351;328	ENSP00000334474:N421T	ENSP00000334474:N421T	N	+	2	0	ZMIZ1	80726265	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.414000	0.52693	0.745000	0.32763	0.459000	0.35465	AAC		0.602	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338	
DYDC2	84332	hgsc.bcm.edu	37	10	82122274	82122274	+	Silent	SNP	G	G	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr10:82122274G>T	ENST00000372199.1	+	4	673	c.75G>T	c.(73-75)cgG>cgT	p.R25R	DYDC2_ENST00000444807.2_Silent_p.R25R|DYDC2_ENST00000372198.1_Silent_p.R39R|DYDC2_ENST00000256039.2_Silent_p.R25R|DYDC2_ENST00000372197.1_Silent_p.R25R			Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	25								p.R25R(1)		breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			CGAAGGTTCGGCCCAGTGACC	0.498																																					p.R25R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G75T	10						.						74.0	73.0	74.0					10																	82122274		2203	4300	6503	82112254	SO:0001819	synonymous_variant	84332	exon3			BC018606	CCDS7367.1, CCDS58088.1	10q23.1	2006-06-16			ENSG00000133665	ENSG00000133665			23468	protein-coding gene	gene with protein product						12477932	Standard	NM_032372		Approved	bA36D19.6, MGC16186	uc031pwk.1	Q96IM9	OTTHUMG00000018610	ENST00000372199.1:c.75G>T	10.37:g.82122274G>T		Somatic		Capture	SOLID	Phase_I	82112254	NM_032372	D3DWD6|Q5QP07|Q5QP11	Silent	SNP	ENST00000372199.1	37	CCDS7367.1																																																																																				0.498	DYDC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049063.1	NM_032372	
KIF11	3832	hgsc.bcm.edu	37	10	94381172	94381172	+	Nonsense_Mutation	SNP	C	C	T	rs387906641		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr10:94381172C>T	ENST00000260731.3	+	10	1249	c.1159C>T	c.(1159-1161)Cga>Tga	p.R387*		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	387					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)	p.R387*(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACGTTTAAAACGAGATCTTGC	0.383																																					p.R387X	Colon(47;212 1003 2764 4062 8431)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1159T	10						.						137.0	133.0	134.0					10																	94381172		2203	4300	6503	94371152	SO:0001587	stop_gained	3832	exon10			X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.1159C>T	10.37:g.94381172C>T	ENSP00000260731:p.Arg387*	Somatic		Capture	SOLID	Phase_I	94371152	NM_004523	A0AV49|B2RMV3|Q15716|Q5VWX0	Nonsense_Mutation	SNP	ENST00000260731.3	37	CCDS7422.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.561697	0.86335	.	.	ENSG00000138160	ENST00000260731	.	.	.	5.0	2.1	0.27182	.	0.074455	0.51477	D	0.000090	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.2431	0.20801	0.4128:0.4406:0.0:0.1466	.	.	.	.	X	387	.	ENSP00000260731:R387X	R	+	1	2	KIF11	94371152	0.995000	0.38212	0.997000	0.53966	0.405000	0.30901	0.480000	0.22244	0.151000	0.19162	-0.515000	0.04445	CGA		0.383	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523	
PDE6C	5146	hgsc.bcm.edu	37	10	95400695	95400695	+	Missense_Mutation	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr10:95400695T>C	ENST00000371447.3	+	14	1894	c.1756T>C	c.(1756-1758)Tac>Cac	p.Y586H		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	586					phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.Y586H(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	ATTAAAGAAGTACTACACAGA	0.353																																					p.Y586H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1756C	10						.						111.0	100.0	104.0					10																	95400695		2203	4300	6503	95390685	SO:0001583	missense	5146	exon14			U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"""Phosphodiesterases"""	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.1756T>C	10.37:g.95400695T>C	ENSP00000360502:p.Tyr586His	Somatic		Capture	SOLID	Phase_I	95390685	NM_006204	A6NCR6|Q5VY29	Missense_Mutation	SNP	ENST00000371447.3	37	CCDS7429.1	.	.	.	.	.	.	.	.	.	.	T	19.33	3.806650	0.70682	.	.	ENSG00000095464	ENST00000371447	D	0.81908	-1.55	5.2	5.2	0.72013	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.87047	0.6080	L	0.37897	1.145	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88583	0.3138	10	0.87932	D	0	.	15.2292	0.73374	0.0:0.0:0.0:1.0	.	586	P51160	PDE6C_HUMAN	H	586	ENSP00000360502:Y586H	ENSP00000360502:Y586H	Y	+	1	0	PDE6C	95390685	1.000000	0.71417	0.997000	0.53966	0.671000	0.39405	7.425000	0.80255	2.187000	0.69744	0.460000	0.39030	TAC		0.353	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	NM_006204	
SORBS1	10580	hgsc.bcm.edu	37	10	97131090	97131090	+	Missense_Mutation	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr10:97131090A>G	ENST00000361941.3	-	19	1924	c.1898T>C	c.(1897-1899)gTg>gCg	p.V633A	SORBS1_ENST00000371239.1_Missense_Mutation_p.V410A|SORBS1_ENST00000474353.2_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000393949.1_Missense_Mutation_p.V603A|SORBS1_ENST00000354106.3_Missense_Mutation_p.V603A|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000277982.5_Missense_Mutation_p.V655A|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371247.2_Missense_Mutation_p.V633A|SORBS1_ENST00000371246.2_Missense_Mutation_p.V655A|SORBS1_ENST00000371227.4_Missense_Mutation_p.V587A|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000607232.1_Missense_Mutation_p.V400A	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1									p.V633A(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		TACCTGTGGCACGTTTGCACT	0.408																																					p.V633A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1898C	10						.						153.0	148.0	150.0					10																	97131090		2203	4300	6503	97121080	SO:0001583	missense	10580	exon19			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.1898T>C	10.37:g.97131090A>G	ENSP00000355136:p.Val633Ala	Somatic		Capture	SOLID	Phase_I	97121080	NM_001034954		Missense_Mutation	SNP	ENST00000361941.3	37	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	A	7.047	0.563766	0.13498	.	.	ENSG00000095637	ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000361941;ENST00000277982;ENST00000354106;ENST00000371239	T;T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02	5.71	0.76	0.18442	.	1.508380	0.04689	N	0.413783	T	0.21801	0.0525	N	0.08118	0	0.09310	N	1	B;B;B;B	0.18968	0.015;0.005;0.032;0.004	B;B;B;B	0.15870	0.008;0.001;0.014;0.013	T	0.18053	-1.0349	10	0.15066	T	0.55	6.0566	6.104	0.20063	0.5217:0.1428:0.3356:0.0	.	587;633;655;603	Q9BX66-11;Q9BX66;Q9BX66-2;Q9BX66-5	.;SRBS1_HUMAN;.;.	A	633;587;655;603;633;655;603;410	ENSP00000360293:V633A;ENSP00000360271:V587A;ENSP00000360292:V655A;ENSP00000377521:V603A;ENSP00000355136:V633A;ENSP00000277982:V655A;ENSP00000277984:V603A;ENSP00000360283:V410A	ENSP00000277982:V655A	V	-	2	0	SORBS1	97121080	0.997000	0.39634	0.004000	0.12327	0.975000	0.68041	1.132000	0.31418	-0.097000	0.12307	0.455000	0.32223	GTG		0.408	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1		
MORN4	118812	hgsc.bcm.edu	37	10	99376081	99376081	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr10:99376081C>T	ENST00000307450.6	-	5	543	c.380G>A	c.(379-381)tGt>tAt	p.C127Y	PI4K2A_ENST00000555577.1_Intron|MORN4_ENST00000335628.3_Missense_Mutation_p.C185Y|PI4K2A_ENST00000370649.3_Intron|MORN4_ENST00000478953.1_3'UTR	NM_001098831.1|NM_178832.3	NP_001092301.1|NP_849154.1	Q8NDC4	MORN4_HUMAN	MORN repeat containing 4	127								p.C127Y(2)		large_intestine(1)|lung(1)|stomach(2)	4						AATGGCAGAACACTTCTCACG	0.547																																					p.C127Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G380A	10						.						63.0	60.0	61.0					10																	99376081		2203	4300	6503	99366071	SO:0001583	missense	118812	exon5			AJ431726	CCDS7468.1	10q24.2	2008-06-23	2008-06-23	2008-06-23	ENSG00000171160	ENSG00000171160			24001	protein-coding gene	gene with protein product	"""44050 protein"""		"""chromosome 10 open reading frame 83"""	C10orf83		12477932	Standard	NM_178832		Approved	bA548K23.4, FLJ25925	uc001koe.3	Q8NDC4	OTTHUMG00000018861	ENST00000307450.6:c.380G>A	10.37:g.99376081C>T	ENSP00000307636:p.Cys127Tyr	Somatic		Capture	SOLID	Phase_I	99366071	NM_178832	Q86Y54	Missense_Mutation	SNP	ENST00000307450.6	37	CCDS7468.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417720	0.83449	.	.	ENSG00000171160	ENST00000307450;ENST00000515674;ENST00000335628	T;T	0.58797	0.71;0.31	5.03	5.03	0.67393	.	0.048373	0.85682	D	0.000000	T	0.71888	0.3393	M	0.63843	1.955	0.80722	D	1	D;D	0.76494	0.999;0.97	D;P	0.73380	0.98;0.543	T	0.65598	-0.6129	10	0.16420	T	0.52	-13.2655	18.5536	0.91075	0.0:1.0:0.0:0.0	.	185;127	Q8NDC4-2;Q8NDC4	.;MORN4_HUMAN	Y	127;127;185	ENSP00000307636:C127Y;ENSP00000335498:C185Y	ENSP00000307636:C127Y	C	-	2	0	MORN4	99366071	1.000000	0.71417	0.957000	0.39632	0.651000	0.38670	5.832000	0.69337	2.622000	0.88805	0.561000	0.74099	TGT		0.547	MORN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049730.1	NM_178832	
MKI67	4288	hgsc.bcm.edu	37	10	129903329	129903329	+	Missense_Mutation	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr10:129903329T>C	ENST00000368654.3	-	13	7150	c.6775A>G	c.(6775-6777)Aca>Gca	p.T2259A	MKI67_ENST00000368653.3_Missense_Mutation_p.T1899A	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2259	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.T2259A(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ACTGATGGTGTTCGTTTCCTG	0.483																																					p.T1899A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5695G	10						.						327.0	296.0	306.0					10																	129903329		2203	4300	6503	129793319	SO:0001583	missense	4288	exon12			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.6775A>G	10.37:g.129903329T>C	ENSP00000357643:p.Thr2259Ala	Somatic		Capture	SOLID	Phase_I	129793319	NM_001145966	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	T	6.011	0.370372	0.11352	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02631	4.22;4.22	2.92	-3.66	0.04489	.	2.492210	0.02016	N	0.047423	T	0.02571	0.0078	L	0.41492	1.28	0.09310	N	1	B;B;P	0.42296	0.087;0.323;0.775	B;B;B	0.39660	0.028;0.175;0.306	T	0.44636	-0.9315	10	0.09084	T	0.74	.	3.9017	0.09164	0.0:0.25:0.3852:0.3647	.	2258;1899;2259	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	A	2259;1899;2258	ENSP00000357643:T2259A;ENSP00000357642:T1899A	ENSP00000357642:T1899A	T	-	1	0	MKI67	129793319	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.517000	0.02248	-0.915000	0.03823	-0.678000	0.03780	ACA		0.483	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417	
MARCH6	10299	hgsc.bcm.edu	37	5	10415633	10415633	+	Missense_Mutation	SNP	C	C	T	rs182494860	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr5:10415633C>T	ENST00000274140.5	+	21	2132	c.2000C>T	c.(1999-2001)aCg>aTg	p.T667M	MARCH6_ENST00000510792.1_Missense_Mutation_p.T365M|MARCH6_ENST00000449913.2_Missense_Mutation_p.T619M|MARCH6_ENST00000503788.1_Missense_Mutation_p.T562M	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	667					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T667M(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TCGTTTTGGACGGGGACTGCC	0.453													C|||	4	0.000798722	0.0	0.0	5008	,	,		13319	0.004		0.0	False		,,,				2504	0.0				p.T667M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2000T	5						.	C	MET/THR	0,4406		0,0,2203	272.0	241.0	252.0		2000	5.6	1.0	5		252	1,8599	1.2+/-3.3	0,1,4299	yes	missense	MARCH6	NM_005885.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	667/911	10415633	1,13005	2203	4300	6503	10468633	SO:0001583	missense	10299	exon21			AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.2000C>T	5.37:g.10415633C>T	ENSP00000274140:p.Thr667Met	Somatic		Capture	SOLID	Phase_I	10468633	NM_005885	A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	CCDS34135.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	15.45	2.836443	0.50951	0.0	1.16E-4	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.6	5.6	0.85130	.	0.049301	0.85682	D	0.000000	T	0.16854	0.0405	N	0.20807	0.61	0.80722	D	1	B;B;B;B	0.27192	0.171;0.05;0.05;0.04	B;B;B;B	0.20384	0.029;0.004;0.006;0.003	T	0.02751	-1.1115	10	0.28530	T	0.3	-17.5761	19.6218	0.95660	0.0:1.0:0.0:0.0	.	562;619;247;667	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	M	619;562;667;365	ENSP00000414643:T619M;ENSP00000425930:T562M;ENSP00000274140:T667M;ENSP00000424512:T365M	ENSP00000274140:T667M	T	+	2	0	MARCH6	10468633	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.678000	0.61641	2.625000	0.88918	0.563000	0.77884	ACG		0.453	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885	
CTNND2	1501	hgsc.bcm.edu	37	5	11117619	11117619	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr5:11117619C>T	ENST00000304623.8	-	13	2409	c.2220G>A	c.(2218-2220)acG>acA	p.T740T	CTNND2_ENST00000503622.1_Silent_p.T403T|CTNND2_ENST00000511377.1_Silent_p.T649T|CTNND2_ENST00000359640.2_Silent_p.T740T|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Silent_p.T307T	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	740					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T740T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCAAGGCATCCGTAAGCCCAT	0.507																																					p.T740T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2220A	5						.						215.0	174.0	188.0					5																	11117619		2203	4300	6503	11170619	SO:0001819	synonymous_variant	1501	exon13			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2220G>A	5.37:g.11117619C>T		Somatic		Capture	SOLID	Phase_I	11170619	NM_001332	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	CCDS3881.1																																																																																				0.507	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332	
SLCO4C1	353189	hgsc.bcm.edu	37	5	101597711	101597711	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr5:101597711C>T	ENST00000310954.6	-	5	1212	c.926G>A	c.(925-927)cGa>cAa	p.R309Q		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1									p.R309Q(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TCCCAACCATCGCGGATCATC	0.353																																					p.R309Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G926A	5						.						89.0	87.0	88.0					5																	101597711		2203	4300	6503	101625610	SO:0001583	missense	353189	exon5			AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.926G>A	5.37:g.101597711C>T	ENSP00000309741:p.Arg309Gln	Somatic		Capture	SOLID	Phase_I	101625610	NM_180991		Missense_Mutation	SNP	ENST00000310954.6	37	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573857	0.65765	.	.	ENSG00000173930	ENST00000310954	T	0.52057	0.68	5.82	3.0	0.34707	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.182769	0.37012	N	0.002283	T	0.51907	0.1702	M	0.76002	2.32	0.09310	N	1	P	0.48503	0.911	P	0.47786	0.557	T	0.46857	-0.9161	10	0.49607	T	0.09	.	9.26	0.37605	0.0:0.7479:0.1194:0.1327	.	309	Q6ZQN7	SO4C1_HUMAN	Q	309	ENSP00000309741:R309Q	ENSP00000309741:R309Q	R	-	2	0	SLCO4C1	101625610	0.841000	0.29509	0.021000	0.16686	0.717000	0.41224	2.929000	0.48916	0.773000	0.33404	0.585000	0.79938	CGA		0.353	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991	
YTHDC2	64848	hgsc.bcm.edu	37	5	112902897	112902897	+	Missense_Mutation	SNP	T	T	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr5:112902897T>C	ENST00000161863.4	+	22	3164	c.2951T>C	c.(2950-2952)gTc>gCc	p.V984A		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	984					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		CCTAATTTAGTCCACGTGGAC	0.453																																					p.V984A												.	.	0			c.T2951C	5						.						150.0	129.0	136.0					5																	112902897		2202	4300	6502	112930796	SO:0001583	missense	64848	exon22			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.2951T>C	5.37:g.112902897T>C	ENSP00000161863:p.Val984Ala	Somatic		Capture	SOLID	Phase_I	112930796	NM_022828	B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	T	7.149	0.583404	0.13749	.	.	ENSG00000047188	ENST00000161863;ENST00000511372	T	0.01854	4.6	5.58	5.58	0.84498	Domain of unknown function DUF1605 (1);	0.194623	0.44097	D	0.000486	T	0.01156	0.0038	N	0.01424	-0.875	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.54139	-0.8338	10	0.07644	T	0.81	.	15.7333	0.77822	0.0:0.0:0.0:1.0	.	984	Q9H6S0	YTDC2_HUMAN	A	984;894	ENSP00000161863:V984A	ENSP00000161863:V984A	V	+	2	0	YTHDC2	112930796	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.164000	0.58190	2.114000	0.64651	0.533000	0.62120	GTC		0.453	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828	
GRAMD3	65983	hgsc.bcm.edu	37	5	125824495	125824495	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr5:125824495G>A	ENST00000285689.3	+	13	1629	c.1168G>A	c.(1168-1170)Gca>Aca	p.A390T	GRAMD3_ENST00000542322.1_Missense_Mutation_p.A398T|GRAMD3_ENST00000515200.1_Missense_Mutation_p.A368T|GRAMD3_ENST00000543198.1_Splice_Site_p.E366E|GRAMD3_ENST00000502348.1_Missense_Mutation_p.A281T|GRAMD3_ENST00000544396.1_Missense_Mutation_p.A286T|RP11-517I3.1_ENST00000515808.1_RNA|RP11-517I3.1_ENST00000512500.1_RNA|GRAMD3_ENST00000511134.1_Missense_Mutation_p.A374T|GRAMD3_ENST00000513040.1_Missense_Mutation_p.A405T	NM_023927.2	NP_076416.2	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3	390						cytoplasmic microtubule (GO:0005881)		p.A390T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		TTACAGACAGGCAGCACCATC	0.363																																					p.A390T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1168A	5						.						66.0	68.0	67.0					5																	125824495		2203	4300	6503	125852394	SO:0001583	missense	65983	exon13			BC008590	CCDS4136.1, CCDS54891.1, CCDS54892.1, CCDS54893.1, CCDS54894.1	5q23.2	2014-02-12	2005-11-03		ENSG00000155324	ENSG00000155324			24911	protein-coding gene	gene with protein product	"""HCV NS3 transactivated protein 2"""					12477932	Standard	NM_023927		Approved	NS3TP2, FLJ21313	uc011cwt.2	Q96HH9	OTTHUMG00000128943	ENST00000285689.3:c.1168G>A	5.37:g.125824495G>A	ENSP00000285689:p.Ala390Thr	Somatic		Capture	SOLID	Phase_I	125852394	NM_023927	B7Z1F2|B7Z3R1|B7Z6D8|B7Z8T2|D3DSZ3|Q9H753	Missense_Mutation	SNP	ENST00000285689.3	37	CCDS4136.1	.	.	.	.	.	.	.	.	.	.	G	0.105	-1.146925	0.01714	.	.	ENSG00000155324	ENST00000513040;ENST00000285689;ENST00000515200;ENST00000542322;ENST00000544396;ENST00000502348;ENST00000511134	T;T;T;T;T;T;T	0.30182	1.55;1.59;1.58;1.54;1.58;1.58;1.59	5.31	2.77	0.32553	.	1.009930	0.07925	N	0.976469	T	0.08088	0.0202	N	0.00538	-1.39	0.09310	N	0.999994	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.35724	-0.9777	10	0.09843	T	0.71	.	4.7531	0.13070	0.668:0.1598:0.1722:0.0	.	374;286;398;405;390	B7Z8T2;B7Z1F2;B7Z3R1;B7Z6D8;Q96HH9	.;.;.;.;GRAM3_HUMAN	T	405;390;368;398;286;281;374	ENSP00000426120:A405T;ENSP00000285689:A390T;ENSP00000426143:A368T;ENSP00000441876:A398T;ENSP00000444049:A286T;ENSP00000427596:A281T;ENSP00000426088:A374T	ENSP00000285689:A390T	A	+	1	0	GRAMD3	125852394	0.266000	0.24112	0.989000	0.46669	0.438000	0.31896	0.442000	0.21628	0.410000	0.25675	-0.455000	0.05494	GCA		0.363	GRAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250922.2	NM_023927	
ADAMTS19	171019	hgsc.bcm.edu	37	5	128958018	128958018	+	Missense_Mutation	SNP	G	G	A	rs267600340		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr5:128958018G>A	ENST00000274487.4	+	10	1874	c.1729G>A	c.(1729-1731)Gct>Act	p.A577T	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	577	Disintegrin.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A577T(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGGGCCATTGGCTTCTTTTTG	0.433																																					p.A577T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1729A	5						.						133.0	114.0	120.0					5																	128958018		2203	4300	6503	128985917	SO:0001583	missense	171019	exon10			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1729G>A	5.37:g.128958018G>A	ENSP00000274487:p.Ala577Thr	Somatic		Capture	SOLID	Phase_I	128985917	NM_133638		Missense_Mutation	SNP	ENST00000274487.4	37	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315023	0.81358	.	.	ENSG00000145808	ENST00000274487	T	0.66638	-0.22	4.42	4.42	0.53409	.	0.000000	0.64402	D	0.000002	T	0.81019	0.4736	M	0.72624	2.21	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80861	-0.1193	9	.	.	.	.	18.3455	0.90321	0.0:0.0:1.0:0.0	.	577	Q8TE59	ATS19_HUMAN	T	577	ENSP00000274487:A577T	.	A	+	1	0	ADAMTS19	128985917	1.000000	0.71417	0.998000	0.56505	0.524000	0.34500	6.573000	0.74009	2.741000	0.93983	0.585000	0.79938	GCT		0.433	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638	
HSPA9	3313	hgsc.bcm.edu	37	5	137894317	137894317	+	Silent	SNP	C	C	T	rs149852902		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr5:137894317C>T	ENST00000297185.3	-	12	1565	c.1440G>A	c.(1438-1440)acG>acA	p.T480T	SNORD63_ENST00000384262.1_RNA|SNORD63_ENST00000411005.1_RNA|HSPA9_ENST00000501917.2_Intron	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	480					cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.T480T(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTTCCACTTGCGTTTGACCAT	0.413																																					p.T480T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1440A	5						.						150.0	141.0	144.0					5																	137894317		2203	4300	6503	137922216	SO:0001819	synonymous_variant	3313	exon12			L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"""Heat shock proteins / HSP70"""	5244	protein-coding gene	gene with protein product		600548	"""heat shock 70kDa protein 9B (mortalin-2)"""	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.1440G>A	5.37:g.137894317C>T		Somatic		Capture	SOLID	Phase_I	137922216	NM_004134	B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Silent	SNP	ENST00000297185.3	37	CCDS4208.1																																																																																				0.413	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251285.1	NM_004134	
MATR3	9782	hgsc.bcm.edu	37	5	138643802	138643802	+	Missense_Mutation	SNP	A	A	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr5:138643802A>C	ENST00000394805.3	+	2	1033	c.698A>C	c.(697-699)gAt>gCt	p.D233A	MATR3_ENST00000503811.1_Intron|MATR3_ENST00000509990.1_Missense_Mutation_p.D233A|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000502929.1_Missense_Mutation_p.D233A|MATR3_ENST00000510056.1_Missense_Mutation_p.D233A|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000394800.2_Missense_Mutation_p.D233A|MATR3_ENST00000361059.2_Missense_Mutation_p.D233A	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	233					cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)	p.D233A(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGTAGGGATGATTCTTTTTTT	0.398																																					p.D233A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A698C	5						.						98.0	95.0	96.0					5																	138643802		2203	4300	6503	138671701	SO:0001583	missense	9782	exon2			M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"""myopathy, distal 2"""	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.698A>C	5.37:g.138643802A>C	ENSP00000378284:p.Asp233Ala	Somatic		Capture	SOLID	Phase_I	138671701	NM_001194955	B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Missense_Mutation	SNP	ENST00000394805.3	37	CCDS4210.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.82|11.82	1.753050|1.753050	0.31046|0.31046	.|.	.|.	ENSG00000015479|ENSG00000015479	ENST00000509990;ENST00000361059;ENST00000502929;ENST00000394800;ENST00000394805;ENST00000504045;ENST00000510056|ENST00000515833	T;T;T;T;T;T;T|.	0.79033|.	-0.8;-0.8;-0.82;-0.82;-0.8;-1.23;-0.81|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.220938|.	0.53938|.	D|.	0.000046|.	T|T	0.48607|0.48607	0.1509|0.1509	N|N	0.14661|0.14661	0.345|0.345	0.48087|0.48087	D|D	0.999584|0.999584	B;B;B|.	0.23377|.	0.084;0.043;0.084|.	B;B;B|.	0.21360|.	0.021;0.034;0.021|.	T|T	0.45745|0.45745	-0.9240|-0.9240	10|5	0.66056|.	D|.	0.02|.	-10.1398|-10.1398	15.7064|15.7064	0.77583|0.77583	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	233;233;233|.	D6REM6;A8MXP9;P43243|.	.;.;MATR3_HUMAN|.	A|L	233|7	ENSP00000423533:D233A;ENSP00000354346:D233A;ENSP00000422319:D233A;ENSP00000378279:D233A;ENSP00000378284:D233A;ENSP00000423290:D233A;ENSP00000426743:D233A|.	ENSP00000354346:D233A|.	D|I	+|+	2|1	0|0	MATR3|MATR3	138671701|138671701	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.320000|6.320000	0.72876|0.72876	2.171000|2.171000	0.68590|0.68590	0.459000|0.459000	0.35465|0.35465	GAT|ATT		0.398	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	NM_018834	
NRG2	9542	hgsc.bcm.edu	37	5	139245161	139245161	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr5:139245161G>A	ENST00000361474.1	-	5	1386	c.1162C>T	c.(1162-1164)Cga>Tga	p.R388*	NRG2_ENST00000358522.3_Intron|NRG2_ENST00000289409.4_Intron|NRG2_ENST00000289422.7_Nonsense_Mutation_p.R388*|NRG2_ENST00000541337.1_Intron|NRG2_ENST00000545385.1_Intron|NRG2_ENST00000340391.3_Nonsense_Mutation_p.R185*|NRG2_ENST00000394770.1_Nonsense_Mutation_p.R388*	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	388					embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.R296*(1)|p.R388*(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGTACAATCGCAAAGGCAGT	0.463																																					p.R388X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1162T	5						.						104.0	100.0	101.0					5																	139245161		2203	4300	6503	139225345	SO:0001587	stop_gained	9542	exon5				CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"""Immunoglobulin superfamily / I-set domain containing"""	7998	protein-coding gene	gene with protein product	"""neural- and thymus-derived activator for ErbB kinases"", ""divergent of neuregulin-1"""	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.1162C>T	5.37:g.139245161G>A	ENSP00000354910:p.Arg388*	Somatic		Capture	SOLID	Phase_I	139225345	NM_013982		Nonsense_Mutation	SNP	ENST00000361474.1	37	CCDS4217.1	.	.	.	.	.	.	.	.	.	.	G	34	5.327521	0.95733	.	.	ENSG00000158458	ENST00000289422;ENST00000361474;ENST00000446269;ENST00000394770;ENST00000340391;ENST00000544729;ENST00000378238	.	.	.	5.93	5.93	0.95920	.	0.279480	0.28236	N	0.016087	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-0.2228	18.5214	0.90954	0.0:0.0:1.0:0.0	.	.	.	.	X	388;388;388;388;185;296;388	.	ENSP00000289422:R388X	R	-	1	2	NRG2	139225345	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.576000	0.90770	2.814000	0.96858	0.655000	0.94253	CGA		0.463	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982	
PCDHA3	56145	hgsc.bcm.edu	37	5	140181578	140181578	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr5:140181578G>A	ENST00000522353.2	+	1	796	c.796G>A	c.(796-798)Gcc>Acc	p.A266T	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A266T	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	266	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A266T(4)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCGTTAACGCCACCGATTT	0.413																																					p.A266T												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G796A	5						.						71.0	67.0	68.0					5																	140181578		2203	4300	6503	140161762	SO:0001583	missense	56145	exon1			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.796G>A	5.37:g.140181578G>A	ENSP00000429808:p.Ala266Thr	Somatic		Capture	SOLID	Phase_I	140161762	NM_031497	O75286	Missense_Mutation	SNP	ENST00000522353.2	37	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	g	17.87	3.495595	0.64186	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.61392	0.11;0.11	4.86	4.86	0.63082	Cadherin (5);Cadherin-like (1);	0.000000	0.41500	U	0.000869	D	0.85869	0.5797	H	0.99391	4.545	0.40474	D	0.980373	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	D	0.91531	0.5242	10	0.87932	D	0	.	13.3278	0.60469	0.0:0.0:0.8419:0.1581	.	266;266	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	T	266	ENSP00000429808:A266T;ENSP00000434086:A266T	ENSP00000429808:A266T	A	+	1	0	PCDHA3	140161762	1.000000	0.71417	0.992000	0.48379	0.548000	0.35241	8.017000	0.88712	2.414000	0.81942	0.467000	0.42956	GCC		0.413	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906	
PCDHB2	56133	hgsc.bcm.edu	37	5	140475640	140475640	+	Silent	SNP	C	C	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr5:140475640C>A	ENST00000194155.4	+	1	1414	c.1266C>A	c.(1264-1266)acC>acA	p.T422T		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	422	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.T422T(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAACATCACCATCACCGTCA	0.517																																					p.T422T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1266A	5						.						138.0	127.0	131.0					5																	140475640		2203	4300	6503	140455824	SO:0001819	synonymous_variant	56133	exon1			AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1266C>A	5.37:g.140475640C>A		Somatic		Capture	SOLID	Phase_I	140455824	NM_018936	Q4KMU1	Silent	SNP	ENST00000194155.4	37	CCDS4244.1																																																																																				0.517	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936	
ARHGAP26	23092	hgsc.bcm.edu	37	5	142283222	142283222	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr5:142283222G>A	ENST00000274498.4	+	8	1198	c.820G>A	c.(820-822)Gtg>Atg	p.V274M	ARHGAP26_ENST00000378004.3_Missense_Mutation_p.V274M	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	274	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)	p.V274M(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATACCTCTACGTGCAGGAGAA	0.483																																					p.V274M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G820A	5						.						86.0	74.0	78.0					5																	142283222		2203	4300	6503	142263406	SO:0001583	missense	23092	exon8			AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"""Rho GTPase activating proteins"""	17073	protein-coding gene	gene with protein product	"""GTPase regulator associated with the focal adhesion kinase pp125"""	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.820G>A	5.37:g.142283222G>A	ENSP00000274498:p.Val274Met	Somatic		Capture	SOLID	Phase_I	142263406	NM_015071	O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Missense_Mutation	SNP	ENST00000274498.4	37	CCDS4277.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697437	0.88830	.	.	ENSG00000145819	ENST00000274498;ENST00000378004	T;T	0.44881	0.91;0.91	5.49	5.49	0.81192	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.60038	0.2238	L	0.49778	1.585	0.80722	D	1	D;P	0.76494	0.999;0.867	D;B	0.72625	0.978;0.358	T	0.54214	-0.8327	10	0.34782	T	0.22	.	19.3843	0.94550	0.0:0.0:1.0:0.0	.	274;274	Q9UNA1;Q9UNA1-2	RHG26_HUMAN;.	M	274	ENSP00000274498:V274M;ENSP00000367243:V274M	ENSP00000274498:V274M	V	+	1	0	ARHGAP26	142263406	1.000000	0.71417	0.882000	0.34594	0.939000	0.58152	3.973000	0.56845	2.574000	0.86865	0.563000	0.77884	GTG		0.483	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071	
KCTD16	57528	hgsc.bcm.edu	37	5	143586836	143586836	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr5:143586836C>T	ENST00000507359.3	+	2	1650	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W	KCTD16_ENST00000512467.1_Missense_Mutation_p.R187W	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	187					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)		p.R187W(1)		large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TGCCAAGTTTCGGAGAGTTCC	0.522																																					p.R187W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C559T	5						.						61.0	63.0	62.0					5																	143586836		2203	4300	6503	143567029	SO:0001583	missense	57528	exon3			AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"""potassium channel tetramerisation domain containing 16"""			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.559C>T	5.37:g.143586836C>T	ENSP00000426548:p.Arg187Trp	Somatic		Capture	SOLID	Phase_I	143567029	NM_020768	Q9P2M9	Missense_Mutation	SNP	ENST00000507359.3	37	CCDS34260.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.182099	0.57800	.	.	ENSG00000183775	ENST00000512467;ENST00000507359	T;T	0.61742	0.08;0.08	5.93	5.93	0.95920	.	0.054101	0.64402	D	0.000001	T	0.77329	0.4114	M	0.85630	2.765	0.58432	D	0.999997	D	0.89917	1.0	D	0.65573	0.936	T	0.80379	-0.1407	10	0.87932	D	0	.	14.9823	0.71319	0.1759:0.8241:0.0:0.0	.	187	Q68DU8	KCD16_HUMAN	W	187	ENSP00000424151:R187W;ENSP00000426548:R187W	ENSP00000426548:R187W	R	+	1	2	KCTD16	143567029	1.000000	0.71417	0.967000	0.41034	0.997000	0.91878	2.173000	0.42472	2.815000	0.96918	0.561000	0.74099	CGG		0.522	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371898.3	XM_098368	
PLAC8L1	153770	hgsc.bcm.edu	37	5	145465115	145465115	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr5:145465115G>A	ENST00000311450.4	-	3	359	c.302C>T	c.(301-303)gCc>gTc	p.A101V		NM_001029869.1	NP_001025040.1	A1L4L8	PL8L1_HUMAN	PLAC8-like 1	101								p.A101V(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|stomach(2)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATAATGCCTGGCGATGTCACA	0.458																																					p.A101V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C302T	5						.						159.0	120.0	133.0					5																	145465115		2203	4300	6503	145445308	SO:0001583	missense	153770	exon3				CCDS34264.1	5q32	2008-02-05			ENSG00000173261	ENSG00000173261			31746	protein-coding gene	gene with protein product							Standard	XM_005268381		Approved		uc003lnv.3	A1L4L8	OTTHUMG00000163418	ENST00000311450.4:c.302C>T	5.37:g.145465115G>A	ENSP00000309087:p.Ala101Val	Somatic		Capture	SOLID	Phase_I	145445308	NM_001029869		Missense_Mutation	SNP	ENST00000311450.4	37	CCDS34264.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878163	0.91664	.	.	ENSG00000173261	ENST00000311450	T	0.56275	0.47	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.71962	0.3402	M	0.66439	2.03	0.45995	D	0.998802	D	0.89917	1.0	D	0.91635	0.999	T	0.73338	-0.4014	10	0.59425	D	0.04	-28.2549	18.0871	0.89461	0.0:0.0:1.0:0.0	.	101	A1L4L8	PL8L1_HUMAN	V	101	ENSP00000309087:A101V	ENSP00000309087:A101V	A	-	2	0	PLAC8L1	145445308	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.791000	0.75120	2.567000	0.86603	0.655000	0.94253	GCC		0.458	PLAC8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373290.1	XM_087761	
TCERG1	10915	hgsc.bcm.edu	37	5	145838793	145838793	+	Missense_Mutation	SNP	C	C	T	rs187719340	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr5:145838793C>T	ENST00000296702.5	+	4	823	c.785C>T	c.(784-786)aCg>aTg	p.T262M	TCERG1_ENST00000394421.2_Missense_Mutation_p.T262M	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	262	Thr-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)	p.T262M(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCACCCCTACGACCAGTAGC	0.577													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16347	0.0		0.0	False		,,,				2504	0.0				p.T262M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C785T	5						.						143.0	137.0	139.0					5																	145838793		2203	4300	6503	145818986	SO:0001583	missense	10915	exon4			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.785C>T	5.37:g.145838793C>T	ENSP00000296702:p.Thr262Met	Somatic		Capture	SOLID	Phase_I	145818986	NM_001040006	Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	CCDS4282.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	16.62	3.173874	0.57692	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.29917	1.55;1.55	5.33	5.33	0.75918	.	0.480661	0.24265	N	0.040054	T	0.40119	0.1104	L	0.39898	1.24	0.53005	D	0.999965	D;D;D	0.65815	0.995;0.99;0.983	P;P;P	0.53401	0.535;0.725;0.535	T	0.04203	-1.0969	10	0.33940	T	0.23	-3.8533	18.9897	0.92786	0.0:1.0:0.0:0.0	.	262;262;262	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	M	262	ENSP00000296702:T262M;ENSP00000377943:T262M	ENSP00000296702:T262M	T	+	2	0	TCERG1	145818986	0.997000	0.39634	0.999000	0.59377	0.992000	0.81027	3.800000	0.55537	2.644000	0.89710	0.563000	0.77884	ACG		0.577	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006	
PDGFRB	5159	hgsc.bcm.edu	37	5	149512405	149512405	+	Silent	SNP	C	C	T	rs55889271		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr5:149512405C>T	ENST00000261799.4	-	7	1504	c.1035G>A	c.(1033-1035)ccG>ccA	p.P345P		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	345	Ig-like C2-type 4.		P -> S (in dbSNP:rs2229558).		adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)	p.P345P(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGACAGTGGGCGGTGGGTAGG	0.637			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																p.P345P			Dom	yes		5	5q31-q32	5159	"""platelet-derived growth factor receptor, beta polypeptide"""		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1035A	5						.						53.0	41.0	45.0					5																	149512405		2203	4300	6503	149492598	SO:0001819	synonymous_variant	5159	exon7			M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.1035G>A	5.37:g.149512405C>T		Somatic		Capture	SOLID	Phase_I	149492598	NM_002609	B5A957|Q8N5L4	Silent	SNP	ENST00000261799.4	37	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	C	1.435	-0.569262	0.03910	.	.	ENSG00000113721	ENST00000544453	.	.	.	5.7	-6.74	0.01743	.	.	.	.	.	T	0.57504	0.2058	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65348	-0.6190	5	0.66056	D	0.02	.	8.2525	0.31735	0.0759:0.2675:0.0752:0.5815	rs55889271	.	.	.	T	17	.	ENSP00000441057:A17T	A	-	1	0	PDGFRB	149492598	0.000000	0.05858	0.001000	0.08648	0.132000	0.20833	-3.558000	0.00431	-1.493000	0.01835	-0.794000	0.03295	GCC		0.637	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609	
ARSI	340075	hgsc.bcm.edu	37	5	149677639	149677639	+	Missense_Mutation	SNP	C	C	T	rs149948064		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr5:149677639C>T	ENST00000328668.7	-	2	1427	c.848G>A	c.(847-849)cGc>cAc	p.R283H		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	283					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.R283H(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAAACCGTAGCGCTTGAGGGC	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22199	0.0		0.0	False		,,,				2504	0.0				p.R283H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G848A	5						.	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	39.0	32.0	35.0		848	4.5	1.0	5	dbSNP_134	35	1,8599	1.2+/-3.3	0,1,4299	no	missense	ARSI	NM_001012301.2	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	283/570	149677639	2,13004	2203	4300	6503	149657832	SO:0001583	missense	340075	exon2			AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"""Arylsulfatase family"""	32521	protein-coding gene	gene with protein product		610009	"""arylsulfatase I"""			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.848G>A	5.37:g.149677639C>T	ENSP00000333395:p.Arg283His	Somatic		Capture	SOLID	Phase_I	149657832	NM_001012301	A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	ENST00000328668.7	37	CCDS34275.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.256346	0.39896	2.27E-4	1.16E-4	ENSG00000183876	ENST00000328668;ENST00000515301	D;D	0.96716	-4.1;-4.1	4.46	4.46	0.54185	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.053466	0.64402	D	0.000003	D	0.93864	0.8037	M	0.67569	2.06	0.35212	D	0.775285	B	0.16802	0.019	B	0.22152	0.038	D	0.91958	0.5576	10	0.48119	T	0.1	.	5.5482	0.17076	0.0:0.7556:0.0:0.2444	.	283	Q5FYB1	ARSI_HUMAN	H	283;140	ENSP00000333395:R283H;ENSP00000426879:R140H	ENSP00000333395:R283H	R	-	2	0	ARSI	149657832	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	1.662000	0.37418	2.460000	0.83146	0.561000	0.74099	CGC		0.607	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301	
RBM22	55696	hgsc.bcm.edu	37	5	150071393	150071393	+	Missense_Mutation	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr5:150071393G>A	ENST00000199814.4	-	11	1304	c.1183C>T	c.(1183-1185)Cgg>Tgg	p.R395W	RBM22_ENST00000540000.1_Missense_Mutation_p.R346W|RBM22_ENST00000447771.2_Missense_Mutation_p.R346W	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	395	Pro-rich.				cellular response to drug (GO:0035690)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of RNA splicing (GO:0033120)|protein import into nucleus, translocation (GO:0000060)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|snRNA binding (GO:0017069)	p.R395W(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTGGAGCCCGCATGAAAGGA	0.537																																					p.R395W												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C1183T	5						.						117.0	112.0	114.0					5																	150071393		2203	4300	6503	150051586	SO:0001583	missense	55696	exon11			AL136933	CCDS34278.1	5q33.1	2013-02-12			ENSG00000086589	ENSG00000086589		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	25503	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 47"""	612430				20013661, 19133299	Standard	NM_018047		Approved	FLJ10290, ZC3H16, fSAP47, Cwc2	uc031slu.1	Q9NW64	OTTHUMG00000163589	ENST00000199814.4:c.1183C>T	5.37:g.150071393G>A	ENSP00000199814:p.Arg395Trp	Somatic		Capture	SOLID	Phase_I	150051586	NM_018047	A6NDM5|B4DLI9|O95607	Missense_Mutation	SNP	ENST00000199814.4	37	CCDS34278.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883020	0.51908	.	.	ENSG00000086589	ENST00000199814;ENST00000540000;ENST00000447771	.	.	.	5.68	0.964	0.19655	.	0.047188	0.85682	D	0.000000	T	0.39253	0.1071	L	0.40543	1.245	0.54753	D	0.999981	D	0.58970	0.984	B	0.41299	0.353	T	0.42015	-0.9476	9	0.66056	D	0.02	-22.006	9.5132	0.39089	0.0:0.0718:0.4347:0.4935	.	395	Q9NW64	RBM22_HUMAN	W	395;346;346	.	ENSP00000199814:R395W	R	-	1	2	RBM22	150051586	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.610000	0.36869	0.996000	0.38943	-0.264000	0.10439	CGG		0.537	RBM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374431.2	NM_018047	
FAT2	2196	hgsc.bcm.edu	37	5	150932777	150932777	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr5:150932777C>T	ENST00000261800.5	-	5	4129	c.4117G>A	c.(4117-4119)Gta>Ata	p.V1373I		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1373	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V1373I(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGCCCTCTACGCTGATGACC	0.587																																					p.V1373I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4117A	5						.						102.0	93.0	96.0					5																	150932777		2203	4300	6503	150912970	SO:0001583	missense	2196	exon5			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.4117G>A	5.37:g.150932777C>T	ENSP00000261800:p.Val1373Ile	Somatic		Capture	SOLID	Phase_I	150912970	NM_001447	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.955527	0.53293	.	.	ENSG00000086570	ENST00000261800	T	0.53206	0.63	5.38	4.5	0.54988	Cadherin (4);Cadherin-like (1);	0.290551	0.26029	N	0.026765	T	0.26557	0.0649	N	0.25286	0.73	0.32601	N	0.525949	P	0.35872	0.525	B	0.26310	0.068	T	0.35968	-0.9767	10	0.42905	T	0.14	.	6.8444	0.23980	0.0:0.8286:0.0:0.1714	.	1373	Q9NYQ8	FAT2_HUMAN	I	1373	ENSP00000261800:V1373I	ENSP00000261800:V1373I	V	-	1	0	FAT2	150912970	1.000000	0.71417	0.964000	0.40570	0.947000	0.59692	3.575000	0.53870	2.524000	0.85096	0.561000	0.74099	GTA		0.587	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
GRIA1	2890	hgsc.bcm.edu	37	5	153078455	153078455	+	Missense_Mutation	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr5:153078455A>G	ENST00000285900.5	+	10	1617	c.1274A>G	c.(1273-1275)aAc>aGc	p.N425S	GRIA1_ENST00000518142.1_Missense_Mutation_p.N345S|GRIA1_ENST00000518783.1_Missense_Mutation_p.N435S|GRIA1_ENST00000521843.2_Missense_Mutation_p.N356S|GRIA1_ENST00000448073.4_Missense_Mutation_p.N435S|GRIA1_ENST00000340592.5_Missense_Mutation_p.N425S	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	425					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.N425S(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CTCAAGAAGAACGCCAATCAG	0.512																																					p.N425S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1274G	5						.						130.0	112.0	118.0					5																	153078455		2203	4300	6503	153058648	SO:0001583	missense	2890	exon10				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1274A>G	5.37:g.153078455A>G	ENSP00000285900:p.Asn425Ser	Somatic		Capture	SOLID	Phase_I	153058648	NM_001114183	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	A	14.48	2.548669	0.45383	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.16;1.16	5.25	5.25	0.73442	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.29817	0.0745	L	0.45285	1.41	0.80722	D	1	B;B;B;B;B;B	0.17038	0.02;0.02;0.002;0.02;0.002;0.002	B;B;B;B;B;B	0.20955	0.019;0.019;0.002;0.019;0.014;0.032	T	0.09164	-1.0687	10	0.08837	T	0.75	.	14.3844	0.66934	1.0:0.0:0.0:0.0	.	435;435;345;435;425;425	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	S	425;425;345;379;425;356;356;435;435	ENSP00000285900:N425S;ENSP00000427920:N345S;ENSP00000339343:N425S;ENSP00000427864:N356S;ENSP00000442108:N356S;ENSP00000428994:N435S;ENSP00000415569:N435S	ENSP00000285900:N425S	N	+	2	0	GRIA1	153058648	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.330000	0.79181	2.001000	0.58596	0.529000	0.55759	AAC		0.512	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3		
THG1L	54974	hgsc.bcm.edu	37	5	157161602	157161602	+	Silent	SNP	G	G	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr5:157161602G>T	ENST00000231198.7	+	3	631	c.387G>T	c.(385-387)gtG>gtT	p.V129V	AC026407.1_ENST00000599823.1_Missense_Mutation_p.H42N	NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)	129					protein homotetramerization (GO:0051289)|tRNA modification (GO:0006400)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|tRNA binding (GO:0000049)|tRNA guanylyltransferase activity (GO:0008193)	p.V129V(1)		NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGACTCACGTGGCCTCCCAGT	0.463																																					p.V129V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G387T	5						.						174.0	170.0	171.0					5																	157161602		2203	4300	6503	157094180	SO:0001819	synonymous_variant	54974	exon3			AK223119	CCDS4341.1	5q33.3	2008-02-05			ENSG00000113272	ENSG00000113272			26053	protein-coding gene	gene with protein product	"""interphase cytoplasmic foci protein 45"""					11230166	Standard	XM_005265939		Approved	ICF45, FLJ11601, FLJ20546	uc003lxd.3	Q9NWX6	OTTHUMG00000130254	ENST00000231198.7:c.387G>T	5.37:g.157161602G>T		Somatic		Capture	SOLID	Phase_I	157094180	NM_017872	D3DQJ5|Q53G12|Q7L5R3|Q9H0S2	Silent	SNP	ENST00000231198.7	37	CCDS4341.1																																																																																				0.463	THG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252579.2	NM_017872	
UBLCP1	134510	hgsc.bcm.edu	37	5	158696923	158696923	+	Silent	SNP	T	T	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr5:158696923T>G	ENST00000296786.6	+	3	488	c.162T>G	c.(160-162)ccT>ccG	p.P54P		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	54	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)	p.P54P(1)		endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TAGGCAAACCTGCAGAAAATG	0.358																																					p.P54P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T162G	5						.						90.0	85.0	87.0					5																	158696923		2203	4300	6503	158629501	SO:0001819	synonymous_variant	134510	exon3			AK057996	CCDS4345.1	5q33.3	2010-06-21			ENSG00000164332	ENSG00000164332	3.1.3.16	"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	28110	protein-coding gene	gene with protein product	"""CTD phosphatase-like with ubiquitin domain 1"""	609867				15883030	Standard	NM_145049		Approved	MGC10067, CPUB1	uc003lxq.2	Q8WVY7	OTTHUMG00000130305	ENST00000296786.6:c.162T>G	5.37:g.158696923T>G		Somatic		Capture	SOLID	Phase_I	158629501	NM_145049	D3DQJ7|Q96DK5	Silent	SNP	ENST00000296786.6	37	CCDS4345.1																																																																																				0.358	UBLCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252650.2	NM_145049	
HMMR	3161	hgsc.bcm.edu	37	5	162917503	162917503	+	Missense_Mutation	SNP	G	G	T	rs532788509		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr5:162917503G>T	ENST00000358715.3	+	17	2103	c.2067G>T	c.(2065-2067)aaG>aaT	p.K689N	HMMR_ENST00000353866.3_Missense_Mutation_p.K674N|HMMR_ENST00000432118.2_Missense_Mutation_p.K603N|RP11-80G7.1_ENST00000514724.2_RNA|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000393915.4_Missense_Mutation_p.K690N			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	689					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)	p.K689N(1)		cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	ATCCTTCAAAGGCTTTTCATC	0.338																																					p.K674N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2022T	5						.						74.0	80.0	78.0					5																	162917503		2201	4299	6500	162850081	SO:0001583	missense	3161	exon16			U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"""CD molecules"""	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.2067G>T	5.37:g.162917503G>T	ENSP00000351554:p.Lys689Asn	Somatic		Capture	SOLID	Phase_I	162850081	NM_012485	A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Missense_Mutation	SNP	ENST00000358715.3	37	CCDS4362.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165857	0.78339	.	.	ENSG00000072571	ENST00000416990;ENST00000353866;ENST00000393915;ENST00000426586;ENST00000432118;ENST00000358715	T;T;T;T;T	0.08458	3.09;3.09;3.09;3.09;3.09	6.07	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.22898	0.0553	M	0.74258	2.255	0.44181	D	0.996996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.999;0.999	T	0.01319	-1.1386	10	0.72032	D	0.01	-23.8237	4.0711	0.09882	0.305:0.0:0.695:0.0	.	603;690;674;689	O75330-4;O75330-3;O75330-2;O75330	.;.;.;HMMR_HUMAN	N	575;674;690;666;603;689	ENSP00000400527:K575N;ENSP00000185942:K674N;ENSP00000377492:K690N;ENSP00000402673:K603N;ENSP00000351554:K689N	ENSP00000185942:K674N	K	+	3	2	HMMR	162850081	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.105000	0.64591	2.890000	0.99128	0.650000	0.86243	AAG		0.338	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484	
SLIT3	6586	hgsc.bcm.edu	37	5	168199922	168199922	+	Silent	SNP	G	G	A	rs140499772	byFrequency	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr5:168199922G>A	ENST00000519560.1	-	14	1742	c.1323C>T	c.(1321-1323)tgC>tgT	p.C441C	SLIT3_ENST00000332966.8_Silent_p.C441C|SLIT3_ENST00000404867.3_Silent_p.C441C	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	441	LRRCT 2.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.C441C(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGTGGCAGTCGCACACAAATG	0.642													G|||	3	0.000599042	0.0	0.0014	5008	,	,		16256	0.0		0.001	False		,,,				2504	0.001				p.C441C	Ovarian(29;311 847 10864 17279 24903)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1323T	5						.	G		6,4400	12.9+/-30.5	0,6,2197	35.0	39.0	38.0		1323	-0.5	1.0	5	dbSNP_134	38	26,8574	17.3+/-56.4	1,24,4275	no	coding-synonymous	SLIT3	NM_003062.2		1,30,6472	AA,AG,GG		0.3023,0.1362,0.246		441/1524	168199922	32,12974	2203	4300	6503	168132500	SO:0001819	synonymous_variant	6586	exon14			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.1323C>T	5.37:g.168199922G>A		Somatic		Capture	SOLID	Phase_I	168132500	NM_003062	A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	CCDS4369.1																																																																																				0.642	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062	
FAF2	23197	hgsc.bcm.edu	37	5	175926049	175926049	+	Missense_Mutation	SNP	T	T	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr5:175926049T>A	ENST00000261942.6	+	9	1027	c.974T>A	c.(973-975)gTg>gAg	p.V325E		NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	325					lipid particle organization (GO:0034389)|negative regulation of catalytic activity (GO:0043086)|response to unfolded protein (GO:0006986)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	lipase binding (GO:0035473)|lipase inhibitor activity (GO:0055102)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.V325E(1)		breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						GAGGAGGAGGTGCAACAGCAA	0.572																																					p.V325E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T974A	5						.						159.0	145.0	150.0					5																	175926049		2203	4300	6503	175858655	SO:0001583	missense	23197	exon9			BC015791	CCDS34296.1	5q35.2	2011-06-28	2008-07-25	2008-07-25	ENSG00000113194	ENSG00000113194		"""UBX domain containing"""	24666	protein-coding gene	gene with protein product	"""expressed in T cells and eosinophils in atopic dermatitis"", ""UBX domain protein 3B"""		"""UBX domain containing 8"""	UBXD8		10048485, 12372427	Standard	NM_014613		Approved	ETEA, KIAA0887, UBXN3B	uc003mej.4	Q96CS3	OTTHUMG00000163228	ENST00000261942.6:c.974T>A	5.37:g.175926049T>A	ENSP00000261942:p.Val325Glu	Somatic		Capture	SOLID	Phase_I	175858655	NM_014613	O94963|Q8IUF2|Q9BRP2|Q9BVM7	Missense_Mutation	SNP	ENST00000261942.6	37	CCDS34296.1	.	.	.	.	.	.	.	.	.	.	T	9.486	1.099473	0.20552	.	.	ENSG00000113194	ENST00000261942	T	0.62498	0.02	4.82	4.82	0.62117	.	0.164302	0.53938	D	0.000052	T	0.32645	0.0836	N	0.04116	-0.275	0.58432	D	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.26360	-1.0105	10	0.05959	T	0.93	-11.8017	9.1215	0.36791	0.0:0.0815:0.0:0.9185	.	325	Q96CS3	FAF2_HUMAN	E	325	ENSP00000261942:V325E	ENSP00000261942:V325E	V	+	2	0	FAF2	175858655	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.429000	0.52800	2.026000	0.59711	0.459000	0.35465	GTG		0.572	FAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372194.1	NM_014613	
RAB24	53917	hgsc.bcm.edu	37	5	176729643	176729643	+	Missense_Mutation	SNP	G	G	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr5:176729643G>T	ENST00000303251.6	-	4	687	c.268C>A	c.(268-270)Ctc>Atc	p.L90I	RAB24_ENST00000393611.2_Missense_Mutation_p.L90I|PRELID1_ENST00000503216.1_5'Flank|PRELID1_ENST00000303204.4_5'Flank|RAB24_ENST00000303270.6_Missense_Mutation_p.L61I	NM_001031677.2	NP_001026847.1	Q969Q5	RAB24_HUMAN	RAB24, member RAS oncogene family	90					autophagy (GO:0006914)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	autophagic vacuole (GO:0005776)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)	p.L90I(1)				all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGTCTGTGAGGTCTTGGTGT	0.562																																					p.L90I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C268A	5						.						101.0	96.0	98.0					5																	176729643		2203	4300	6503	176662249	SO:0001583	missense	53917	exon5			AF087904	CCDS34300.1	5q35.3	2009-10-06			ENSG00000169228	ENSG00000169228		"""RAB, member RAS oncogene"""	9765	protein-coding gene	gene with protein product		612415					Standard	NM_001031677		Approved		uc003mfw.3	Q969Q5	OTTHUMG00000130849	ENST00000303251.6:c.268C>A	5.37:g.176729643G>T	ENSP00000304376:p.Leu90Ile	Somatic		Capture	SOLID	Phase_I	176662249	NM_130781	Q7Z4Z7	Missense_Mutation	SNP	ENST00000303251.6	37	CCDS34300.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.377110	0.42105	.	.	ENSG00000169228	ENST00000393611;ENST00000303251;ENST00000303270	T;T;T	0.71461	-0.57;-0.57;-0.57	5.49	5.49	0.81192	Small GTP-binding protein domain (1);	0.083670	0.47455	U	0.000224	T	0.50718	0.1632	N	0.05574	-0.02	0.80722	D	1	B;P	0.42973	0.377;0.796	B;B	0.40825	0.341;0.326	T	0.56486	-0.7971	10	0.02654	T	1	-11.4705	18.9659	0.92695	0.0:0.0:1.0:0.0	.	90;61	Q969Q5;F8W8H5	RAB24_HUMAN;.	I	90;90;61	ENSP00000377235:L90I;ENSP00000304376:L90I;ENSP00000302085:L61I	ENSP00000304376:L90I	L	-	1	0	RAB24	176662249	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.825000	0.62708	2.576000	0.86940	0.555000	0.69702	CTC		0.562	RAB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253416.1	NM_130781	
CCDC127	133957	hgsc.bcm.edu	37	5	205474	205474	+	Missense_Mutation	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr5:205474A>G	ENST00000296824.3	-	3	853	c.721T>C	c.(721-723)Tgg>Cgg	p.W241R		NM_145265.2	NP_660308.1	Q96BQ5	CC127_HUMAN	coiled-coil domain containing 127	241								p.W241R(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12			all cancers(22;0.0236)|Lung(60;0.113)			ACGAGTTCCCAGTATTTGAGA	0.433																																					p.W241R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T721C	5						.						97.0	99.0	99.0					5																	205474		2203	4300	6503	258474	SO:0001583	missense	133957	exon3			AK098567	CCDS3852.1	5p15.33	2008-02-05			ENSG00000164366	ENSG00000164366			30520	protein-coding gene	gene with protein product						12477932	Standard	NM_145265		Approved	FLJ25701	uc003jam.1	Q96BQ5	OTTHUMG00000161586	ENST00000296824.3:c.721T>C	5.37:g.205474A>G	ENSP00000296824:p.Trp241Arg	Somatic		Capture	SOLID	Phase_I	258474	NM_145265		Missense_Mutation	SNP	ENST00000296824.3	37	CCDS3852.1	.	.	.	.	.	.	.	.	.	.	A	15.28	2.786446	0.49997	.	.	ENSG00000164366	ENST00000296824	D	0.88509	-2.39	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.94202	0.8139	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94821	0.7987	10	0.87932	D	0	-17.5021	13.5168	0.61545	1.0:0.0:0.0:0.0	.	241	Q96BQ5	CC127_HUMAN	R	241	ENSP00000296824:W241R	ENSP00000296824:W241R	W	-	1	0	CCDC127	258474	1.000000	0.71417	0.918000	0.36340	0.140000	0.21249	8.459000	0.90367	2.094000	0.63399	0.459000	0.35465	TGG		0.433	CCDC127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365459.2	NM_145265	
EGFLAM	133584	hgsc.bcm.edu	37	5	38427310	38427310	+	Silent	SNP	C	C	T	rs199798525		TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr5:38427310C>T	ENST00000354891.3	+	14	2356	c.2010C>T	c.(2008-2010)caC>caT	p.H670H	EGFLAM_ENST00000336740.6_Silent_p.H436H|EGFLAM_ENST00000397202.2_Silent_p.H36H|EGFLAM_ENST00000322350.5_Silent_p.H670H|EGFLAM-AS1_ENST00000508986.1_RNA	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	670	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)	p.H670H(2)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CAGGGGGCCACGTGGAGTTCC	0.522													c|||	1	0.000199681	0.0	0.0	5008	,	,		19734	0.001		0.0	False		,,,				2504	0.0				p.H436H	Colon(62;485 1295 3347 17454)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1308T	5						.						146.0	149.0	148.0					5																	38427310		2203	4300	6503	38463067	SO:0001819	synonymous_variant	133584	exon9			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2010C>T	5.37:g.38427310C>T		Somatic		Capture	SOLID	Phase_I	38463067	NM_182798	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Silent	SNP	ENST00000354891.3	37	CCDS56363.1																																																																																				0.522	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403	
HCN1	348980	hgsc.bcm.edu	37	5	45262669	45262669	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr5:45262669C>T	ENST00000303230.4	-	8	2084	c.2027G>A	c.(2026-2028)aGc>aAc	p.S676N		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	676					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.S676N(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GTGCAGGTTGCTGTGAGACAG	0.602																																					p.S676N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2027A	5						.						115.0	116.0	116.0					5																	45262669		2203	4300	6503	45298426	SO:0001583	missense	348980	exon8			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2027G>A	5.37:g.45262669C>T	ENSP00000307342:p.Ser676Asn	Somatic		Capture	SOLID	Phase_I	45298426	NM_021072		Missense_Mutation	SNP	ENST00000303230.4	37	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.708391	0.48517	.	.	ENSG00000164588	ENST00000303230	D	0.97430	-4.38	5.39	5.39	0.77823	.	0.165261	0.40908	D	0.000998	D	0.93354	0.7881	N	0.19112	0.55	0.37219	D	0.90515	B	0.18166	0.026	B	0.17979	0.02	D	0.91372	0.5120	10	0.40728	T	0.16	.	16.1952	0.82023	0.0:0.8672:0.1328:0.0	.	676	O60741	HCN1_HUMAN	N	676	ENSP00000307342:S676N	ENSP00000307342:S676N	S	-	2	0	HCN1	45298426	0.915000	0.31059	0.992000	0.48379	0.995000	0.86356	2.439000	0.44846	2.528000	0.85240	0.563000	0.77884	AGC		0.602	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072	
ADAMTS6	11174	hgsc.bcm.edu	37	5	64511239	64511239	+	IGR	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr5:64511239G>A								ADAMTS6 (16647 upstream) : ADAMTS6 (81795 downstream)														p.A783V(1)									AGCTGTCCCAGCAACATCAAA	0.398																																					p.A783V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2348T	5						.						132.0	123.0	126.0					5																	64511239		2203	4300	6503	64546995	SO:0001628	intergenic_variant	11174	exon19																															5.37:g.64511239G>A		Somatic		Capture	SOLID	Phase_I	64546995	NM_197941		Missense_Mutation	SNP		37		.	.	.	.	.	.	.	.	.	.	G	18.75	3.690209	0.68271	.	.	ENSG00000049192	ENST00000381055;ENST00000261306;ENST00000464680	T;T	0.54071	0.59;0.59	5.69	5.69	0.88448	ADAM-TS Spacer 1 (1);	0.104141	0.64402	D	0.000004	T	0.79575	0.4469	M	0.91038	3.17	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.72075	0.976;0.974	T	0.83068	-0.0144	10	0.62326	D	0.03	.	19.8113	0.96547	0.0:0.0:1.0:0.0	.	783;783	D6R9L6;Q9UKP5	.;ATS6_HUMAN	V	783;733;783	ENSP00000370443:A783V;ENSP00000423551:A783V	ENSP00000261306:A733V	A	-	2	0	ADAMTS6	64546995	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	7.495000	0.81514	2.690000	0.91761	0.655000	0.94253	GCT	0	0.398								
UTP15	84135	hgsc.bcm.edu	37	5	72873708	72873708	+	Missense_Mutation	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr5:72873708A>G	ENST00000296792.4	+	9	1177	c.922A>G	c.(922-924)Atg>Gtg	p.M308V	UTP15_ENST00000508491.1_Missense_Mutation_p.M289V|UTP15_ENST00000543251.1_Missense_Mutation_p.M118V	NM_001284431.1|NM_032175.2	NP_001271360.1|NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	308					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.M308V(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		AGTTGTAGGAATGACCAATGG	0.328																																					p.M308V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A922G	5						.						87.0	87.0	87.0					5																	72873708		2203	4300	6503	72909464	SO:0001583	missense	84135	exon9			AL831972	CCDS34186.1, CCDS68893.1, CCDS68894.1	5q13.2	2013-01-10	2006-04-20		ENSG00000164338	ENSG00000164338		"""WD repeat domain containing"""	25758	protein-coding gene	gene with protein product			"""UTP15, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""			12477932	Standard	NM_032175		Approved	FLJ12787, NET21, FLJ23637	uc003kcw.1	Q8TED0	OTTHUMG00000162453	ENST00000296792.4:c.922A>G	5.37:g.72873708A>G	ENSP00000296792:p.Met308Val	Somatic		Capture	SOLID	Phase_I	72909464	NM_032175	B4DU75|B4DXK8|Q6IA60|Q96E08|Q9H9F8	Missense_Mutation	SNP	ENST00000296792.4	37	CCDS34186.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.251704	0.80135	.	.	ENSG00000164338	ENST00000296792;ENST00000543251;ENST00000508491	T;T;T	0.39406	2.25;1.08;2.25	5.36	5.36	0.76844	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.58133	0.2101	M	0.89840	3.065	0.80722	D	1	P;D	0.56521	0.817;0.976	B;P	0.49085	0.366;0.6	T	0.64381	-0.6421	10	0.21014	T	0.42	.	15.3391	0.74282	1.0:0.0:0.0:0.0	.	289;308	B4DXK8;Q8TED0	.;UTP15_HUMAN	V	308;118;289	ENSP00000296792:M308V;ENSP00000440796:M118V;ENSP00000424609:M289V	ENSP00000296792:M308V	M	+	1	0	UTP15	72909464	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.850000	0.92190	2.041000	0.60428	0.528000	0.53228	ATG		0.328	UTP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368965.1	NM_032175	
IQGAP2	10788	hgsc.bcm.edu	37	5	75902076	75902076	+	Missense_Mutation	SNP	A	A	C			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr5:75902076A>C	ENST00000274364.6	+	12	1602	c.1305A>C	c.(1303-1305)gaA>gaC	p.E435D	IQGAP2_ENST00000502745.1_5'Flank|IQGAP2_ENST00000379730.3_5'UTR|CTD-2236F14.1_ENST00000511327.1_RNA|IQGAP2_ENST00000396234.3_5'Flank	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	435					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)	p.E435D(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GCTGGAATGAAATTCAGAATT	0.343																																					p.E435D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1305C	5						.						101.0	100.0	100.0					5																	75902076		2203	4300	6503	75937832	SO:0001583	missense	10788	exon12			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.1305A>C	5.37:g.75902076A>C	ENSP00000274364:p.Glu435Asp	Somatic		Capture	SOLID	Phase_I	75937832	NM_006633	A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	A	9.821	1.185783	0.21870	.	.	ENSG00000145703	ENST00000274364;ENST00000514350;ENST00000505766	T;T;T	0.03920	3.76;3.76;3.76	5.63	5.63	0.86233	.	0.158913	0.56097	D	0.000036	T	0.03520	0.0101	N	0.13168	0.305	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.51325	-0.8720	10	0.31617	T	0.26	-26.3168	10.5628	0.45154	0.8194:0.0:0.0:0.1806	.	435	Q13576	IQGA2_HUMAN	D	435;408;385	ENSP00000274364:E435D;ENSP00000423672:E408D;ENSP00000421097:E385D	ENSP00000274364:E435D	E	+	3	2	IQGAP2	75937832	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.292000	0.33342	2.127000	0.65507	0.528000	0.53228	GAA		0.343	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633	
IQGAP2	10788	hgsc.bcm.edu	37	5	75967666	75967666	+	Silent	SNP	C	C	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr5:75967666C>A	ENST00000274364.6	+	24	3223	c.2926C>A	c.(2926-2928)Cgg>Agg	p.R976R	IQGAP2_ENST00000502745.1_Silent_p.R472R|IQGAP2_ENST00000379730.3_Silent_p.R478R|IQGAP2_ENST00000396234.3_Silent_p.R472R	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	976	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)	p.R976R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TAGAGGTGCCCGGGGACAGAA	0.483																																					p.R976R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2926A	5						.						73.0	76.0	75.0					5																	75967666		2203	4300	6503	76003422	SO:0001819	synonymous_variant	10788	exon24			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.2926C>A	5.37:g.75967666C>A		Somatic		Capture	SOLID	Phase_I	76003422	NM_006633	A8K4V1|B7Z8A4|J3KR91	Silent	SNP	ENST00000274364.6	37	CCDS34188.1																																																																																				0.483	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633	
DMGDH	29958	hgsc.bcm.edu	37	5	78322349	78322349	+	Silent	SNP	G	G	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr5:78322349G>A	ENST00000255189.3	-	13	2116	c.2088C>T	c.(2086-2088)gaC>gaT	p.D696D	DMGDH_ENST00000540686.1_Silent_p.D316D|DMGDH_ENST00000380311.4_Silent_p.D495D	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	696					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)	p.D696D(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TCATGATAGCGTCATACAGCG	0.512																																					p.D696D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2088T	5						.						102.0	92.0	96.0					5																	78322349		2203	4300	6503	78358105	SO:0001819	synonymous_variant	29958	exon13			AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.2088C>T	5.37:g.78322349G>A		Somatic		Capture	SOLID	Phase_I	78358105	NM_013391	B2RBN0|B4E1J9	Silent	SNP	ENST00000255189.3	37	CCDS4044.1																																																																																				0.512	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391	
BHMT	635	hgsc.bcm.edu	37	5	78416257	78416257	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr5:78416257C>T	ENST00000274353.5	+	4	477	c.370C>T	c.(370-372)Cag>Tag	p.Q124*	BHMT_ENST00000524080.1_Intron|DMGDH_ENST00000520388.1_5'UTR	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	124	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				amino-acid betaine catabolic process (GO:0006579)|amino-acid betaine metabolic process (GO:0006577)|cellular nitrogen compound metabolic process (GO:0034641)|L-methionine salvage (GO:0071267)|protein methylation (GO:0006479)|regulation of homocysteine metabolic process (GO:0050666)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	betaine-homocysteine S-methyltransferase activity (GO:0047150)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	AGGAGTGAGTCAGACACCTTC	0.453																																					p.Q124X												.	.	0			c.C370T	5						.						75.0	68.0	71.0					5																	78416257		2203	4300	6503	78452013	SO:0001587	stop_gained	635	exon4			BC012616	CCDS4046.1	5q14.1	2012-09-20	2010-04-28		ENSG00000145692	ENSG00000145692	2.1.1.5		1047	protein-coding gene	gene with protein product	"""betaine homocysteine methyltransferase"""	602888				8798461, 9281325	Standard	NM_001713		Approved	BHMT1	uc003kfu.4	Q93088	OTTHUMG00000108157	ENST00000274353.5:c.370C>T	5.37:g.78416257C>T	ENSP00000274353:p.Gln124*	Somatic		Capture	SOLID	Phase_I	78452013	NM_001713	Q9UNI9	Nonsense_Mutation	SNP	ENST00000274353.5	37	CCDS4046.1	.	.	.	.	.	.	.	.	.	.	C	37	6.422910	0.97555	.	.	ENSG00000145692	ENST00000274353	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-16.8932	19.1596	0.93526	0.0:1.0:0.0:0.0	.	.	.	.	X	124	.	ENSP00000274353:Q124X	Q	+	1	0	BHMT	78452013	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	7.445000	0.80570	2.602000	0.87976	0.557000	0.71058	CAG		0.453	BHMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226961.1	NM_001713	
ZCCHC9	84240	hgsc.bcm.edu	37	5	80604429	80604429	+	Missense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr5:80604429C>T	ENST00000254037.2	+	2	3589	c.434C>T	c.(433-435)gCc>gTc	p.A145V	ZCCHC9_ENST00000506458.1_3'UTR|ZCCHC9_ENST00000438268.2_Missense_Mutation_p.A145V|ZCCHC9_ENST00000380199.5_Missense_Mutation_p.A145V|ZCCHC9_ENST00000407610.3_Missense_Mutation_p.A145V			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	145					negative regulation of phosphatase activity (GO:0010923)		poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A145V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		GATTGCCCCGCCGCCCTTGAA	0.473																																					p.A145V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C434T	5						.						86.0	86.0	86.0					5																	80604429		2203	4300	6503	80640185	SO:0001583	missense	84240	exon3			BC014841	CCDS4054.1	5q14.1	2013-01-09			ENSG00000131732	ENSG00000131732		"""Zinc fingers, CCHC domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25424	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 41"""					12477932	Standard	NM_032280		Approved	DKFZp761J139, PPP1R41	uc003khi.3	Q8N567	OTTHUMG00000119014	ENST00000254037.2:c.434C>T	5.37:g.80604429C>T	ENSP00000254037:p.Ala145Val	Somatic		Capture	SOLID	Phase_I	80640185	NM_001131036	B2RAE7|Q9H027	Missense_Mutation	SNP	ENST00000254037.2	37	CCDS4054.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.865289	0.71949	.	.	ENSG00000131732	ENST00000254037;ENST00000407610;ENST00000380199;ENST00000438268	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.96	5.96	0.96718	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (2);	0.111989	0.64402	D	0.000009	T	0.39963	0.1098	L	0.52266	1.64	0.45930	D	0.998762	P	0.45176	0.852	B	0.41299	0.353	T	0.13469	-1.0508	10	0.32370	T	0.25	-19.2444	14.8052	0.69948	0.1442:0.8558:0.0:0.0	.	145	Q8N567	ZCHC9_HUMAN	V	145	ENSP00000254037:A145V;ENSP00000385047:A145V;ENSP00000369546:A145V;ENSP00000412637:A145V	ENSP00000254037:A145V	A	+	2	0	ZCCHC9	80640185	1.000000	0.71417	0.784000	0.31847	0.965000	0.64279	5.844000	0.69430	2.814000	0.96858	0.655000	0.94253	GCC		0.473	ZCCHC9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239213.1	NM_032280	
MCTP1	79772	hgsc.bcm.edu	37	5	94253667	94253667	+	Silent	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr5:94253667C>T	ENST00000515393.1	-	8	1283	c.1284G>A	c.(1282-1284)agG>agA	p.R428R	MCTP1_ENST00000429576.2_Intron|MCTP1_ENST00000312216.8_Silent_p.R207R|MCTP1_ENST00000505078.1_Intron|MCTP1_ENST00000505208.1_Silent_p.R207R	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	428					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.R428R(1)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GAAGAGCTGGCCTGCCGCACG	0.433																																					p.R207R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G621A	5						.						67.0	70.0	69.0					5																	94253667		2203	4300	6503	94279423	SO:0001819	synonymous_variant	79772	exon8				CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.1284G>A	5.37:g.94253667C>T		Somatic		Capture	SOLID	Phase_I	94279423	NM_001002796	Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Silent	SNP	ENST00000515393.1	37	CCDS34203.1																																																																																				0.433	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717	
CHD1	1105	hgsc.bcm.edu	37	5	98235402	98235402	+	Silent	SNP	A	A	G			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr5:98235402A>G	ENST00000284049.3	-	7	1016	c.867T>C	c.(865-867)ggT>ggC	p.G289G		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	289	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)	p.G289G(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TTGTAGTAGCACCAGTAGCTG	0.328																																					p.G289G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T867C	5						.						105.0	115.0	111.0					5																	98235402		2203	4300	6503	98263302	SO:0001819	synonymous_variant	1105	exon7			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.867T>C	5.37:g.98235402A>G		Somatic		Capture	SOLID	Phase_I	98263302	NM_001270	Q17RZ3	Silent	SNP	ENST00000284049.3	37	CCDS34204.1																																																																																				0.328	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270	
EBF1	1879	hgsc.bcm.edu	37	5	158135101	158135103	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	AGA	AGA	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr5:158135101_158135103delAGA	ENST00000313708.6	-	15	1910_1912	c.1628_1630delTCT	c.(1627-1632)ttctca>tca	p.F543del	EBF1_ENST00000380654.4_In_Frame_Del_p.F512del|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_In_Frame_Del_p.F475del	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	543	Pro/Ser/Thr-rich.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F543delF(1)	HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGGCTGGTGAGAAGGAGAAGAT	0.606			T	HMGA2	lipoma																																p.543_544del			Dom	yes		5	5q34	1879	early B-cell factor 1		M	.	.	1	Deletion - In frame(1)	large_intestine(1)	c.1628_1630del	5						.																																			158067681	SO:0001651	inframe_deletion	1879	exon15			AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1628_1630delTCT	5.37:g.158135101_158135103delAGA	ENSP00000322898:p.Phe543del	Somatic		Capture	SOLID	Phase_I	158067679	NM_024007	Q8IW11	In_Frame_Del	DEL	ENST00000313708.6	37	CCDS4343.1																																																																																				0.606	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007	
PDLIM7	9260	hgsc.bcm.edu	37	5	176915184	176915184	+	Missense_Mutation	SNP	C	C	A			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr5:176915184C>A	ENST00000355841.2	-	10	1001	c.935G>T	c.(934-936)gGg>gTg	p.G312V	PDLIM7_ENST00000356618.4_3'UTR|PDLIM7_ENST00000393551.1_3'UTR|PDLIM7_ENST00000359895.2_Missense_Mutation_p.G278V	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)	312	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|receptor-mediated endocytosis (GO:0006898)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ruffle (GO:0001726)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)	p.G312V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGGACCTTCCCACACTGGCT	0.632																																					p.G278V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G833T	5						.						120.0	92.0	102.0					5																	176915184		2203	4300	6503	176847790	SO:0001583	missense	9260	exon10			BC001093	CCDS4422.1, CCDS4423.1, CCDS4424.1	5q35.3	2008-02-05			ENSG00000196923	ENSG00000196923			22958	protein-coding gene	gene with protein product		605903				11874232	Standard	NM_005451		Approved	ENIGMA	uc003mhc.1	Q9NR12	OTTHUMG00000130853	ENST00000355841.2:c.935G>T	5.37:g.176915184C>A	ENSP00000348099:p.Gly312Val	Somatic		Capture	SOLID	Phase_I	176847790	NM_203352	Q14250|Q5XG82|Q6NVZ5|Q96C91|Q9BXB8|Q9BXB9	Missense_Mutation	SNP	ENST00000355841.2	37	CCDS4422.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845524	0.32606	.	.	ENSG00000196923	ENST00000359895;ENST00000355841	D;D	0.88124	-2.34;-2.34	5.26	3.47	0.39725	Zinc finger, LIM-type (4);	0.407307	0.21409	N	0.075018	D	0.90851	0.7126	M	0.80332	2.49	0.46849	D	0.999229	D;D	0.60575	0.988;0.958	P;P	0.57846	0.828;0.587	D	0.89320	0.3639	10	0.59425	D	0.04	.	8.6442	0.33996	0.0:0.7633:0.0:0.2367	.	312;278	Q9NR12;Q9NR12-2	PDLI7_HUMAN;.	V	278;312	ENSP00000352964:G278V;ENSP00000348099:G312V	ENSP00000348099:G312V	G	-	2	0	PDLIM7	176847790	0.999000	0.42202	0.059000	0.19551	0.001000	0.01503	2.401000	0.44513	0.607000	0.29982	-0.145000	0.13849	GGG		0.632	PDLIM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253423.1	NM_005451	
RNF130	55819	hgsc.bcm.edu	37	5	179390530	179390532	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	GAG	GAG	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr5:179390530_179390532delGAG	ENST00000521389.1	-	8	1598_1600	c.1183_1185delCTC	c.(1183-1185)ctcdel	p.L395del	RNF130_ENST00000261947.4_Intron|RNF130_ENST00000522208.2_Intron|CTC-563A5.2_ENST00000510240.1_RNA	NM_018434.4	NP_060904.2			ring finger protein 130									p.L395delL(1)		breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGAGGGCACTGAGGAGGCCAAAA	0.419																																					p.395_395del	GBM(24;432 554 38471 39699 51728)											.	.	1	Deletion - In frame(1)	large_intestine(1)	c.1183_1185del	5						.																																			179323138	SO:0001651	inframe_deletion	55819	exon8			AF155650	CCDS4451.1, CCDS64340.1	5q35.3	2013-01-09			ENSG00000113269	ENSG00000113269		"""RING-type (C3HC4) zinc fingers"""	18280	protein-coding gene	gene with protein product						10806348	Standard	NM_018434		Approved	GP, G1RZFP, GOLIATH	uc003mll.1	Q86XS8	OTTHUMG00000130909	ENST00000521389.1:c.1183_1185delCTC	5.37:g.179390533_179390535delGAG	ENSP00000430237:p.Leu395del	Somatic		Capture	SOLID	Phase_I	179323136	NM_018434		In_Frame_Del	DEL	ENST00000521389.1	37	CCDS4451.1																																																																																				0.419	RNF130-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253499.3	NM_018434	
KIF22	3835	hgsc.bcm.edu	37	16	29810338	29810338	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-A6-2676-01A-01W-0833-10	TCGA-A6-2676-10A-01W-0833-10	g.chr16:29810338C>T	ENST00000160827.4	+	5	632	c.592C>T	c.(592-594)Cga>Tga	p.R198*	KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000400751.5_Nonsense_Mutation_p.R130*|KIF22_ENST00000561482.1_Nonsense_Mutation_p.R130*|KIF22_ENST00000569382.2_Nonsense_Mutation_p.R130*	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	198	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)	p.R198*(1)		endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						CCTGGTAATCCGAGAAGACTG	0.542																																					.												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	.	16						.						93.0	101.0	98.0					16																	29810338		2197	4296	6493	29717839	SO:0001587	stop_gained	3835	.			D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"""Kinesins"""	6391	protein-coding gene	gene with protein product		603213	"""kinesin-like 4"""	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.592C>T	16.37:g.29810338C>T	ENSP00000160827:p.Arg198*	Somatic		Capture	SOLID	Phase_I	29717839	.	B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Nonsense_Mutation	SNP	ENST00000160827.4	37	CCDS10653.1	.	.	.	.	.	.	.	.	.	.	C	41	8.916555	0.99002	.	.	ENSG00000079616	ENST00000160827;ENST00000400751	.	.	.	5.95	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4785	0.75504	0.1479:0.8521:0.0:0.0	.	.	.	.	X	198;130	.	ENSP00000160827:R198X	R	+	1	2	KIF22	29717839	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.752000	0.38349	2.819000	0.97034	0.655000	0.94253	CGA		0.542	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215012.2		
