#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Start_position_hg18	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_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
DGKB	1607	hgsc.bcm.edu	37	7	14652999	14652999	+	Missense_Mutation	SNP	C	C	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr7:14652999C>G	ENST00000403951.2	-	16	1746	c.1327G>C	c.(1327-1329)Gtg>Ctg	p.V443L	DGKB_ENST00000407950.1_Missense_Mutation_p.V435L|DGKB_ENST00000444700.2_Missense_Mutation_p.V424L|DGKB_ENST00000406247.3_Missense_Mutation_p.V443L|DGKB_ENST00000258767.5_Missense_Mutation_p.V443L|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000402815.1_Missense_Mutation_p.V442L|DGKB_ENST00000399322.3_Missense_Mutation_p.V443L			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	443	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						TTGGGGTTCACAAAAACTAAA	0.333																																																	0			7											41.0	39.0	40.0					7																	14652999		1815	4062	5877	14619524	SO:0001583	missense	1607			AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.1327G>C	7.37:g.14652999C>G	ENSP00000385780:p.Val443Leu	Somatic		Capture	Illumina HiSeq	Phase_I	14619524	A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665393	0.88251	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85;1.85;1.85	5.36	5.36	0.76844	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.64402	D	0.000001	T	0.48187	0.1486	M	0.71206	2.165	0.58432	D	0.999995	D;P;P;P	0.56521	0.976;0.939;0.939;0.92	P;P;P;P	0.57283	0.817;0.612;0.684;0.597	T	0.47898	-0.9081	10	0.66056	D	0.02	.	19.457	0.94897	0.0:1.0:0.0:0.0	.	442;424;443;443	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	L	443;443;443;442;435;424;443	ENSP00000385780:V443L;ENSP00000382260:V443L;ENSP00000258767:V443L;ENSP00000384909:V442L;ENSP00000385031:V435L;ENSP00000388451:V424L;ENSP00000386066:V443L	ENSP00000258767:V443L	V	-	1	0	DGKB	14619524	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.651000	0.74372	2.676000	0.91093	0.655000	0.94253	GTG		DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080	
SP4	6671	hgsc.bcm.edu	37	7	21469947	21469947	+	Silent	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr7:21469947T>C	ENST00000222584.3	+	3	1382	c.1164T>C	c.(1162-1164)gaT>gaC	p.D388D		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	388					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.D388E(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						ATGCACAGGATCAATCAAATT	0.473																																																	1	Substitution - Missense(1)	ovary(1)	7											90.0	87.0	88.0					7																	21469947		2203	4300	6503	21436472	SO:0001819	synonymous_variant	6671				CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.1164T>C	7.37:g.21469947T>C		Somatic		Capture	Illumina HiSeq	Phase_I	21436472	O60402|Q32M52	Silent	SNP	ENST00000222584.3	37	CCDS5373.1																																																																																				SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112	
NUPL2	11097	hgsc.bcm.edu	37	7	23239115	23239115	+	Silent	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr7:23239115T>C	ENST00000258742.5	+	6	907	c.648T>C	c.(646-648)ccT>ccC	p.P216P		NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	216					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAGCAGCACCTGCATTTGGAT	0.358																																																	0			7											162.0	159.0	160.0					7																	23239115		2203	4300	6503	23205640	SO:0001819	synonymous_variant	11097			U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243			17010	protein-coding gene	gene with protein product	"""nucleoporin-like protein 1"""					10358091, 9450185	Standard	NM_007342		Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000258742.5:c.648T>C	7.37:g.23239115T>C		Somatic		Capture	Illumina HiSeq	Phase_I	23205640	A4D143|B4DP42|Q49AE7|Q9BS49	Silent	SNP	ENST00000258742.5	37	CCDS5379.1																																																																																				NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214017.2	NM_007342	
GLI3	2737	hgsc.bcm.edu	37	7	42064965	42064965	+	Silent	SNP	C	C	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr7:42064965C>A	ENST00000395925.3	-	9	1338	c.1254G>T	c.(1252-1254)acG>acT	p.T418T	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	418					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)			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						CAGACTCACTCGTGGGCTTGT	0.527									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																								0			7											131.0	109.0	116.0					7																	42064965		2203	4300	6503	42031490	SO:0001819	synonymous_variant	2737	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.1254G>T	7.37:g.42064965C>A		Somatic		Capture	Illumina HiSeq	Phase_I	42031490	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	CCDS5465.1																																																																																				GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168	
ABCA13	154664	hgsc.bcm.edu	37	7	48318316	48318316	+	Missense_Mutation	SNP	A	A	G	rs36117801		TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr7:48318316A>G	ENST00000435803.1	+	18	7549	c.7525A>G	c.(7525-7527)Agt>Ggt	p.S2509G		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2509					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GTTGAATGACAGTGCTGACCT	0.428																																																	0			7											193.0	193.0	193.0					7																	48318316		1868	4101	5969	48288862	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7525A>G	7.37:g.48318316A>G	ENSP00000411096:p.Ser2509Gly	Somatic		Capture	Illumina HiSeq	Phase_I	48288862	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	14.52	2.560224	0.45590	.	.	ENSG00000179869	ENST00000435803	T	0.54866	0.55	4.87	2.39	0.29439	.	0.554792	0.16119	N	0.228747	T	0.31949	0.0813	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16630	-1.0396	10	0.25106	T	0.35	.	6.1155	0.20124	0.7732:0.0:0.2268:0.0	.	2509	Q86UQ4	ABCAD_HUMAN	G	2509	ENSP00000411096:S2509G	ENSP00000411096:S2509G	S	+	1	0	ABCA13	48288862	0.000000	0.05858	0.001000	0.08648	0.889000	0.51656	0.894000	0.28350	0.202000	0.20498	0.533000	0.62120	AGT		ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
EGFR	1956	hgsc.bcm.edu	37	7	55241650	55241650	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr7:55241650A>G	ENST00000275493.2	+	18	2275	c.2098A>G	c.(2098-2100)Aac>Gac	p.N700D	EGFR_ENST00000454757.2_Missense_Mutation_p.N647D|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.N655D	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	700	Important for dimerization, phosphorylation and activation.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.N700D(1)|p.N700Y(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGAAGCTCCCAACCAAGCTCT	0.542		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	2	Substitution - Missense(2)	lung(2)	7											95.0	99.0	98.0					7																	55241650		2203	4300	6503	55209144	SO:0001583	missense	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2098A>G	7.37:g.55241650A>G	ENSP00000275493:p.Asn700Asp	Somatic		Capture	Illumina HiSeq	Phase_I	55209144	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.896315	0.91962	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.74947	-0.88;-0.89;-0.89	5.83	5.83	0.93111	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.80210	0.4581	M	0.72894	2.215	0.58432	D	0.999991	P;P	0.51791	0.868;0.948	P;P	0.50570	0.529;0.644	T	0.83025	-0.0165	10	0.87932	D	0	.	15.0123	0.71557	1.0:0.0:0.0:0.0	.	655;700	Q504U8;P00533	.;EGFR_HUMAN	D	655;570;700;647	ENSP00000415559:N655D;ENSP00000275493:N700D;ENSP00000395243:N647D	ENSP00000275493:N700D	N	+	1	0	EGFR	55209144	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.306000	0.96204	2.215000	0.71742	0.460000	0.39030	AAC		EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
EGFR	1956	hgsc.bcm.edu	37	7	55241713	55241713	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr7:55241713G>A	ENST00000275493.2	+	18	2338	c.2161G>A	c.(2161-2163)Ggt>Agt	p.G721S	EGFR_ENST00000454757.2_Missense_Mutation_p.G668S|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.G676S	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	721	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.G721S(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GCTGGGCTCCGGTGCGTTCGG	0.572		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	3	Substitution - Missense(3)	lung(2)|ovary(1)	7											63.0	65.0	65.0					7																	55241713		2203	4300	6503	55209207	SO:0001583	missense	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2161G>A	7.37:g.55241713G>A	ENSP00000275493:p.Gly721Ser	Somatic		Capture	Illumina HiSeq	Phase_I	55209207	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845199	0.71603	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	D;D;D	0.94793	-3.52;-3.52;-3.52	5.5	5.5	0.81552	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98409	0.9471	H	0.97390	3.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.985;0.999	D	0.99683	1.0999	10	0.87932	D	0	.	17.9478	0.89044	0.0:0.0:1.0:0.0	.	676;721	Q504U8;P00533	.;EGFR_HUMAN	S	676;591;721;668	ENSP00000415559:G676S;ENSP00000275493:G721S;ENSP00000395243:G668S	ENSP00000275493:G721S	G	+	1	0	EGFR	55209207	1.000000	0.71417	0.304000	0.25085	0.005000	0.04900	9.772000	0.98984	2.562000	0.86427	0.563000	0.77884	GGT		EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
EGFR	1956	hgsc.bcm.edu	37	7	55269457	55269457	+	Silent	SNP	T	T	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr7:55269457T>G	ENST00000275493.2	+	26	3321	c.3144T>G	c.(3142-3144)gcT>gcG	p.A1048A	EGFR_ENST00000454757.2_Silent_p.A995A|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Silent_p.A1003A	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	1048					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CCACCGTGGCTTGCATTGATA	0.413		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	0			7											162.0	149.0	154.0					7																	55269457		2203	4300	6503	55236951	SO:0001819	synonymous_variant	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.3144T>G	7.37:g.55269457T>G		Somatic		Capture	Illumina HiSeq	Phase_I	55236951	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	CCDS5514.1																																																																																				EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
PTPN12	5782	hgsc.bcm.edu	37	7	77230117	77230117	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr7:77230117A>G	ENST00000248594.6	+	8	961	c.689A>G	c.(688-690)cAt>cGt	p.H230R	PTPN12_ENST00000435495.2_Missense_Mutation_p.H100R|PTPN12_ENST00000415482.2_Missense_Mutation_p.H111R	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	230	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						ATTTGTATTCATTGCAGGTAC	0.299																																																	0			7											71.0	66.0	68.0					7																	77230117		2203	4300	6503	77068053	SO:0001583	missense	5782				CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.689A>G	7.37:g.77230117A>G	ENSP00000248594:p.His230Arg	Somatic		Capture	Illumina HiSeq	Phase_I	77068053	A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	ENST00000248594.6	37	CCDS5592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.5|23.5	4.424051|4.424051	0.83667|0.83667	.|.	.|.	ENSG00000127947|ENSG00000127947	ENST00000248594;ENST00000415482;ENST00000543073;ENST00000435495|ENST00000522115	T;D;D|.	0.87571|.	1.62;-2.27;-2.27|.	5.17|5.17	5.17|5.17	0.71159|0.71159	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91415|0.91415	0.7291|0.7291	H|H	0.99719|0.99719	4.725|4.725	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.95131|0.95131	0.8255|0.8255	10|5	0.87932|.	D|.	0|.	.|.	15.0121|15.0121	0.71557|0.71557	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	230|.	Q05209|.	PTN12_HUMAN|.	R|V	230;111;111;100|169	ENSP00000248594:H230R;ENSP00000392429:H111R;ENSP00000397991:H100R|.	ENSP00000248594:H230R|.	H|I	+|+	2|1	0|0	PTPN12|PTPN12	77068053|77068053	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	9.281000|9.281000	0.95811|0.95811	1.960000|1.960000	0.56953|0.56953	0.455000|0.455000	0.32223|0.32223	CAT|ATT		PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3		
SLC25A13	10165	hgsc.bcm.edu	37	7	95799433	95799433	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr7:95799433T>C	ENST00000265631.5	-	13	1371	c.1235A>G	c.(1234-1236)aAc>aGc	p.N412S	SLC25A13_ENST00000542654.1_Missense_Mutation_p.N304S|SLC25A13_ENST00000416240.2_Missense_Mutation_p.N413S			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	412					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	CACAAAATCGTTCACCTTGAA	0.333																																																	0			7											77.0	80.0	79.0					7																	95799433		2203	4300	6503	95637369	SO:0001583	missense	10165			AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1235A>G	7.37:g.95799433T>C	ENSP00000265631:p.Asn412Ser	Somatic		Capture	Illumina HiSeq	Phase_I	95637369	O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	37	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.990117	0.74589	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.78924	-1.22;-1.22;-1.22	5.06	5.06	0.68205	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.88894	0.6561	M	0.86028	2.79	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90638	0.4572	10	0.72032	D	0.01	-19.6936	15.2988	0.73931	0.0:0.0:0.0:1.0	.	304;413;412	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	S	412;413;304	ENSP00000265631:N412S;ENSP00000400101:N413S;ENSP00000440484:N304S	ENSP00000265631:N412S	N	-	2	0	SLC25A13	95637369	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.702000	0.74628	2.267000	0.75376	0.383000	0.25322	AAC		SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251	
RELN	5649	hgsc.bcm.edu	37	7	103113286	103113286	+	Silent	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr7:103113286T>C	ENST00000428762.1	-	65	10515	c.10356A>G	c.(10354-10356)agA>agG	p.R3452R	RELN_ENST00000424685.2_Silent_p.R3452R|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Silent_p.R3450R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3452	Arg-rich (basic).				associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTGACCTTCGTCTTCTGTTGT	0.378																																					NSCLC(146;835 1944 15585 22231 52158)												0			7											172.0	161.0	165.0					7																	103113286		2203	4300	6503	102900522	SO:0001819	synonymous_variant	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.10356A>G	7.37:g.103113286T>C		Somatic		Capture	Illumina HiSeq	Phase_I	102900522	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	CCDS47680.1																																																																																				RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
NRCAM	4897	hgsc.bcm.edu	37	7	107818499	107818499	+	Missense_Mutation	SNP	C	C	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr7:107818499C>A	ENST00000425651.2	-	23	2909	c.2910G>T	c.(2908-2910)ttG>ttT	p.L970F	NRCAM_ENST00000379028.3_Missense_Mutation_p.L970F|NRCAM_ENST00000379024.4_Missense_Mutation_p.L951F|NRCAM_ENST00000351718.4_Missense_Mutation_p.L954F|NRCAM_ENST00000413765.2_Missense_Mutation_p.L951F|NRCAM_ENST00000379022.4_Missense_Mutation_p.L970F	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	970	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)	p.L954L(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GATCCCATTCCAAAGTGAGAG	0.453																																																	1	Substitution - coding silent(1)	ovary(1)	7											85.0	74.0	78.0					7																	107818499		2203	4300	6503	107605735	SO:0001583	missense	4897				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.2910G>T	7.37:g.107818499C>A	ENSP00000401244:p.Leu970Phe	Somatic		Capture	Illumina HiSeq	Phase_I	107605735	A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.223364	0.79464	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022	T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	6.05	6.05	0.98169	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.065294	0.64402	D	0.000007	T	0.81823	0.4904	M	0.87038	2.855	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.995;1.0	D;D;D;D;D	0.91635	0.998;0.994;0.998;0.949;0.999	D	0.84078	0.0383	10	0.87932	D	0	.	15.3397	0.74287	0.1396:0.8604:0.0:0.0	.	970;951;951;954;970	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	F	970;970;951;970;954;951;970;970	ENSP00000368314:L970F;ENSP00000407858:L951F;ENSP00000325269:L954F;ENSP00000368310:L951F;ENSP00000401244:L970F;ENSP00000368308:L970F	ENSP00000325269:L954F	L	-	3	2	NRCAM	107605735	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.286000	0.33273	2.866000	0.98385	0.650000	0.86243	TTG		NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132	
TMEM168	64418	hgsc.bcm.edu	37	7	112424370	112424370	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr7:112424370T>C	ENST00000312814.6	-	2	1071	c.511A>G	c.(511-513)Act>Gct	p.T171A	TMEM168_ENST00000454074.1_Missense_Mutation_p.T171A	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	171						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						ACCAACATAGTTGTGCTGGCA	0.423																																																	0			7											64.0	64.0	64.0					7																	112424370		2203	4300	6503	112211606	SO:0001583	missense	64418				CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.511A>G	7.37:g.112424370T>C	ENSP00000323068:p.Thr171Ala	Somatic		Capture	Illumina HiSeq	Phase_I	112211606	A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	ENST00000312814.6	37	CCDS5757.1	.	.	.	.	.	.	.	.	.	.	T	6.978	0.550437	0.13374	.	.	ENSG00000146802	ENST00000312814;ENST00000454074	.	.	.	5.93	5.93	0.95920	.	0.302747	0.41500	D	0.000870	T	0.40645	0.1125	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30966	-0.9960	9	0.13108	T	0.6	-31.3682	16.3786	0.83431	0.0:0.0:0.0:1.0	.	171	Q9H0V1	TM168_HUMAN	A	171	.	ENSP00000323068:T171A	T	-	1	0	TMEM168	112211606	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.749000	0.55150	2.269000	0.75478	0.454000	0.30748	ACT		TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484	
GPR85	54329	hgsc.bcm.edu	37	7	112723723	112723723	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr7:112723723T>C	ENST00000297146.3	-	3	1657	c.1054A>G	c.(1054-1056)Aca>Gca	p.T352A	GPR85_ENST00000501255.2_Missense_Mutation_p.T352A|GPR85_ENST00000424100.1_Missense_Mutation_p.T352A|GPR85_ENST00000487573.1_5'Flank|GPR85_ENST00000449591.1_Missense_Mutation_p.T352A	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85	352					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T352P(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						AGAAGGGTTGTGCTGAAACAG	0.438																																																	1	Substitution - Missense(1)	central_nervous_system(1)	7											75.0	76.0	75.0					7																	112723723		2203	4300	6503	112510959	SO:0001583	missense	54329			AF250237	CCDS5758.1	7q31	2012-08-21			ENSG00000164604	ENSG00000164604		"""GPCR / Class A : Orphans"""	4536	protein-coding gene	gene with protein product		605188				10978537, 10833454	Standard	NM_018970		Approved	SREB2	uc003vgp.1	P60893	OTTHUMG00000156933	ENST00000297146.3:c.1054A>G	7.37:g.112723723T>C	ENSP00000297146:p.Thr352Ala	Somatic		Capture	Illumina HiSeq	Phase_I	112510959	Q9JHI6|Q9NPD1	Missense_Mutation	SNP	ENST00000297146.3	37	CCDS5758.1	.	.	.	.	.	.	.	.	.	.	T	3.511	-0.099863	0.07010	.	.	ENSG00000164604	ENST00000501255;ENST00000297146;ENST00000424100;ENST00000449591	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.21103	0.0508	N	0.08118	0	0.80722	D	1	B	0.15141	0.012	B	0.10450	0.005	T	0.05115	-1.0905	10	0.29301	T	0.29	.	14.9933	0.71406	0.0:0.0:0.0:1.0	.	352	P60893	GPR85_HUMAN	A	352	ENSP00000445808:T352A;ENSP00000297146:T352A;ENSP00000396763:T352A;ENSP00000401178:T352A	ENSP00000297146:T352A	T	-	1	0	GPR85	112510959	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.825000	0.86693	2.195000	0.70347	0.477000	0.44152	ACA		GPR85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346650.2		
MET	4233	hgsc.bcm.edu	37	7	116380997	116380997	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr7:116380997G>A	ENST00000318493.6	+	5	1806	c.1619G>A	c.(1618-1620)tGg>tAg	p.W540*	MET_ENST00000495962.1_3'UTR|MET_ENST00000436117.2_Nonsense_Mutation_p.W540*|MET_ENST00000397752.3_Nonsense_Mutation_p.W540*			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CAGTGTGGCTGGTGCCACGAC	0.522			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																															Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0			7											114.0	117.0	116.0					7																	116380997		1967	4140	6107	116168233	SO:0001587	stop_gained	8731	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1619G>A	7.37:g.116380997G>A	ENSP00000317272:p.Trp540*	Somatic		Capture	Illumina HiSeq	Phase_I	116168233	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Nonsense_Mutation	SNP	ENST00000318493.6	37	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	G	40	8.332855	0.98764	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.3167	0.98654	0.0:0.0:1.0:0.0	.	.	.	.	X	540	.	ENSP00000317272:W540X	W	+	2	0	MET	116168233	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.126000	0.77201	2.809000	0.96659	0.557000	0.71058	TGG		MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3		
GRM8	2918	hgsc.bcm.edu	37	7	126746620	126746620	+	Silent	SNP	C	C	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr7:126746620C>T	ENST00000339582.2	-	3	1465	c.657G>A	c.(655-657)tcG>tcA	p.S219S	GRM8_ENST00000444921.2_Silent_p.S219S|GRM8_ENST00000358373.3_Silent_p.S219S|GRM8_ENST00000405249.1_Silent_p.S219S|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	219					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.S219S(4)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				AAGCCAGTGTCGAAACATAAT	0.493										HNSCC(24;0.065)																																							4	Substitution - coding silent(4)	large_intestine(3)|ovary(1)	7											137.0	119.0	125.0					7																	126746620		2203	4300	6503	126533856	SO:0001819	synonymous_variant	2918				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.657G>A	7.37:g.126746620C>T		Somatic		Capture	Illumina HiSeq	Phase_I	126533856	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	CCDS5794.1																																																																																				GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4		
EZH2	2146	hgsc.bcm.edu	37	7	148523589	148523589	+	Silent	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr7:148523589T>C	ENST00000460911.1	-	8	952	c.864A>G	c.(862-864)cgA>cgG	p.R288R	EZH2_ENST00000320356.2_Silent_p.R288R|EZH2_ENST00000541220.1_Silent_p.R279R|EZH2_ENST00000350995.2_Silent_p.R249R|EZH2_ENST00000478654.1_Silent_p.R279R|EZH2_ENST00000483967.1_Silent_p.R279R|EZH2_ENST00000536783.1_Silent_p.R179R|EZH2_ENST00000476773.1_Silent_p.R279R			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	288	Interaction with DNMT1, DNMT3A and DNMT3B.				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)			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)			ATTTAAAACATCGCCTACAGA	0.383			Mis		DLBCL																																			Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	0			7											150.0	125.0	134.0					7																	148523589		2203	4300	6503	148154522	SO:0001819	synonymous_variant	2146				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.864A>G	7.37:g.148523589T>C		Somatic		Capture	Illumina HiSeq	Phase_I	148154522	B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Silent	SNP	ENST00000460911.1	37	CCDS56516.1																																																																																				EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456	
PAK7	57144	hgsc.bcm.edu	37	20	9525073	9525073	+	Silent	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr20:9525073A>G	ENST00000378429.3	-	9	2358	c.1812T>C	c.(1810-1812)gtT>gtC	p.V604V	PAK7_ENST00000378423.1_Silent_p.V604V|PAK7_ENST00000353224.5_Silent_p.V604V	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	604	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> I (in a metastatic melanoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		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)			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)			AGGGAGTGCCAACCAATGATT	0.488																																																	0			20											121.0	112.0	115.0					20																	9525073		2203	4300	6503	9473073	SO:0001819	synonymous_variant	57144			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.1812T>C	20.37:g.9525073A>G		Somatic		Capture	Illumina HiSeq	Phase_I	9473073	A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Silent	SNP	ENST00000378429.3	37	CCDS13107.1																																																																																				PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1		
RBL1	5933	hgsc.bcm.edu	37	20	35635839	35635839	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr20:35635839T>C	ENST00000373664.3	-	20	2912	c.2846A>G	c.(2845-2847)tAc>tGc	p.Y949C	RBL1_ENST00000344359.3_Missense_Mutation_p.Y949C	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	949	Domain B.|Pocket; binds T and E1A.				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)			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)				CGCCAAGTCGTATTTCAGTGC	0.333																																																	0			20											141.0	136.0	138.0					20																	35635839		2203	4300	6503	35069253	SO:0001583	missense	5933			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.2846A>G	20.37:g.35635839T>C	ENSP00000362768:p.Tyr949Cys	Somatic		Capture	Illumina HiSeq	Phase_I	35069253	A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	37	CCDS13289.1	.	.	.	.	.	.	.	.	.	.	T	19.62	3.861774	0.71949	.	.	ENSG00000080839	ENST00000373664;ENST00000344359	T;T	0.59083	0.29;0.29	5.29	5.29	0.74685	Cyclin-like (2);	0.128199	0.53938	D	0.000042	T	0.75759	0.3893	M	0.81341	2.54	0.58432	D	0.999997	D;D	0.89917	1.0;0.998	D;D	0.70935	0.971;0.91	T	0.79082	-0.1949	10	0.62326	D	0.03	-11.5325	13.9334	0.64010	0.0:0.0:0.0:1.0	.	949;949	P28749-2;P28749	.;RBL1_HUMAN	C	949	ENSP00000362768:Y949C;ENSP00000343646:Y949C	ENSP00000343646:Y949C	Y	-	2	0	RBL1	35069253	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.111000	0.71541	2.220000	0.72140	0.477000	0.44152	TAC		RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895	
PTPRT	11122	hgsc.bcm.edu	37	20	41100965	41100965	+	Missense_Mutation	SNP	A	A	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr20:41100965A>T	ENST00000373187.1	-	8	1390	c.1391T>A	c.(1390-1392)cTg>cAg	p.L464Q	PTPRT_ENST00000373193.3_Missense_Mutation_p.L464Q|PTPRT_ENST00000373190.1_Missense_Mutation_p.L464Q|PTPRT_ENST00000373184.1_Missense_Mutation_p.L464Q|PTPRT_ENST00000373198.4_Missense_Mutation_p.L464Q|PTPRT_ENST00000356100.2_Missense_Mutation_p.L464Q|PTPRT_ENST00000373201.1_Missense_Mutation_p.L464Q			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	464	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGGGTTAGACAGCAAGAGTCG	0.607																																																	0			20											56.0	61.0	59.0					20																	41100965		2130	4239	6369	40534379	SO:0001583	missense	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1391T>A	20.37:g.41100965A>T	ENSP00000362283:p.Leu464Gln	Somatic		Capture	Illumina HiSeq	Phase_I	40534379	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.584525	0.86748	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55	5.28	5.28	0.74379	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.73133	0.3548	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.77482	-0.2571	10	0.87932	D	0	.	15.1951	0.73081	1.0:0.0:0.0:0.0	.	464;464	O14522-1;O14522	.;PTPRT_HUMAN	Q	464	ENSP00000362286:L464Q;ENSP00000362283:L464Q;ENSP00000362289:L464Q;ENSP00000348408:L464Q;ENSP00000362294:L464Q;ENSP00000362280:L464Q;ENSP00000362297:L464Q	ENSP00000348408:L464Q	L	-	2	0	PTPRT	40534379	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.136000	0.94489	2.005000	0.58758	0.374000	0.22700	CTG		PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1		
GDAP1L1	78997	hgsc.bcm.edu	37	20	42887122	42887122	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr20:42887122G>A	ENST00000342560.5	+	3	510	c.422G>A	c.(421-423)cGg>cAg	p.R141Q	GDAP1L1_ENST00000372952.3_3'UTR|GDAP1L1_ENST00000537864.1_Intron	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	141			R -> W (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.							endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CAGCACGCACGGGTGCTGCAG	0.692																																																	0			20											24.0	18.0	20.0					20																	42887122		2172	4257	6429	42320536	SO:0001583	missense	78997				CCDS13328.1, CCDS74725.1, CCDS74726.1, CCDS74727.1	20q12	2012-02-09	2012-02-09		ENSG00000124194	ENSG00000124194			4213	protein-coding gene	gene with protein product							Standard	NM_024034		Approved		uc010zwl.3	Q96MZ0	OTTHUMG00000032530	ENST00000342560.5:c.422G>A	20.37:g.42887122G>A	ENSP00000341782:p.Arg141Gln	Somatic		Capture	Illumina HiSeq	Phase_I	42320536	B7Z621|Q5TE60|Q68CW7|Q9BQJ7|Q9BQV4|Q9BWJ4|Q9H3Y2|Q9H4G5	Missense_Mutation	SNP	ENST00000342560.5	37	CCDS13328.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669397	0.88348	.	.	ENSG00000124194	ENST00000342560	D	0.99113	-5.44	5.41	5.41	0.78517	.	0.056581	0.64402	D	0.000002	D	0.99118	0.9696	M	0.70275	2.135	0.80722	D	1	D;P;D	0.76494	0.997;0.929;0.999	P;B;D	0.72625	0.784;0.398;0.978	D	0.99863	1.1085	10	0.30078	T	0.28	.	19.1922	0.93671	0.0:0.0:1.0:0.0	.	160;141;87	B7Z621;Q96MZ0;Q5JY50	.;GD1L1_HUMAN;.	Q	141	ENSP00000341782:R141Q	ENSP00000341782:R141Q	R	+	2	0	GDAP1L1	42320536	1.000000	0.71417	0.993000	0.49108	0.376000	0.30014	9.385000	0.97223	2.542000	0.85734	0.505000	0.49811	CGG		GDAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079356.1	NM_024034	
SPINT4	391253	hgsc.bcm.edu	37	20	44351098	44351098	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr20:44351098A>G	ENST00000279058.3	+	1	109	c.92A>G	c.(91-93)gAg>gGg	p.E31G		NM_178455.1	NP_848550.1	Q6UDR6	SPIT4_HUMAN	serine peptidase inhibitor, Kunitz type 4	31						extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			lung(6)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.028)				AAAATTGCGGAGAAGATATGT	0.393																																																	0			20											143.0	135.0	137.0					20																	44351098		2203	4300	6503	43784512	SO:0001583	missense	391253			AY372174	CCDS33477.1	20q13.12	2012-08-20	2005-10-18	2005-10-25	ENSG00000149651	ENSG00000149651			16130	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 137"", ""serine peptidase inhibitor, Kunitz type 4"""	C20orf137		21988899	Standard	NM_178455		Approved	dJ601O1.1	uc002xpe.1	Q6UDR6	OTTHUMG00000130153	ENST00000279058.3:c.92A>G	20.37:g.44351098A>G	ENSP00000279058:p.Glu31Gly	Somatic		Capture	Illumina HiSeq	Phase_I	43784512	Q9BQN3	Missense_Mutation	SNP	ENST00000279058.3	37	CCDS33477.1	.	.	.	.	.	.	.	.	.	.	A	10.58	1.390010	0.25118	.	.	ENSG00000149651	ENST00000279058	T	0.57107	0.42	3.97	2.85	0.33270	.	1.069190	0.07336	N	0.879966	T	0.38214	0.1032	.	.	.	0.09310	N	1	P	0.35011	0.48	B	0.22386	0.039	T	0.28744	-1.0034	9	0.66056	D	0.02	-0.2417	7.6938	0.28583	0.7865:0.2135:0.0:0.0	.	31	Q6UDR6	SPIT4_HUMAN	G	31	ENSP00000279058:E31G	ENSP00000279058:E31G	E	+	2	0	SPINT4	43784512	0.003000	0.15002	0.001000	0.08648	0.001000	0.01503	0.955000	0.29188	0.836000	0.34901	0.528000	0.53228	GAG		SPINT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252463.2	XM_372869	
SLC12A5	57468	hgsc.bcm.edu	37	20	44664478	44664478	+	Silent	SNP	C	C	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr20:44664478C>T	ENST00000454036.2	+	4	460	c.411C>T	c.(409-411)gtC>gtT	p.V137V	SLC12A5_ENST00000608944.1_Silent_p.V63V|SLC12A5_ENST00000372315.1_Silent_p.V114V|SLC12A5_ENST00000243964.3_Silent_p.V114V	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	137					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCTTTGGCGTCATCCTCTTCC	0.602																																																	0			20											186.0	129.0	148.0					20																	44664478		2203	4300	6503	44097885	SO:0001819	synonymous_variant	57468			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.411C>T	20.37:g.44664478C>T		Somatic		Capture	Illumina HiSeq	Phase_I	44097885	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	ENST00000454036.2	37	CCDS46610.1																																																																																				SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1		
PREX1	57580	hgsc.bcm.edu	37	20	47305235	47305235	+	Silent	SNP	G	G	T	rs568035687		TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr20:47305235G>T	ENST00000371941.3	-	10	1316	c.1294C>A	c.(1294-1296)Cgg>Agg	p.R432R	PREX1_ENST00000396220.1_Silent_p.R432R	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	432	DEP 1. {ECO:0000255|PROSITE- ProRule:PRU00066}.				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)			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)			AGCTTTCTCCGGCGGTCCTTG	0.567																																																	0			20											169.0	120.0	137.0					20																	47305235		2203	4300	6503	46738642	SO:0001819	synonymous_variant	57580			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.1294C>A	20.37:g.47305235G>T		Somatic		Capture	Illumina HiSeq	Phase_I	46738642	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Silent	SNP	ENST00000371941.3	37	CCDS13410.1																																																																																				PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820	
FAM65C	140876	hgsc.bcm.edu	37	20	49225051	49225051	+	Silent	SNP	C	C	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr20:49225051C>T	ENST00000327979.2	-	11	1230	c.819G>A	c.(817-819)ctG>ctA	p.L273L	FAM65C_ENST00000535356.1_Silent_p.L277L|FAM65C_ENST00000045083.2_Silent_p.L273L			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	273										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCAGCGAGCCCAGGCCCCGCA	0.682																																																	0			20											77.0	77.0	77.0					20																	49225051		2203	4300	6503	48658458	SO:0001819	synonymous_variant	140876			AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.819G>A	20.37:g.49225051C>T		Somatic		Capture	Illumina HiSeq	Phase_I	48658458	Q5QPB6|Q9NQQ2	Silent	SNP	ENST00000327979.2	37	CCDS13431.2																																																																																				FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1		
SS18L1	26039	hgsc.bcm.edu	37	20	60740531	60740531	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr20:60740531C>T	ENST00000331758.3	+	8	903	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	SS18L1_ENST00000370848.4_Missense_Mutation_p.R296W|SS18L1_ENST00000421564.1_Missense_Mutation_p.R293W	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	293	Gln-rich.|MFD domain. {ECO:0000250}.				chromatin modification (GO:0016568)|dendrite development (GO:0016358)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of dendrite development (GO:0050773)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|kinetochore (GO:0000776)|nuclear body (GO:0016604)|nucleus (GO:0005634)		p.R293W(1)	SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			GAGCTACGACCGGTCCTTCGA	0.617			T	SSX1	synovial sarcoma																																			Dom	yes		20	20q13.3	26039	synovial sarcoma translocation gene on chromosome 18-like 1		M	1	Substitution - Missense(1)	ovary(1)	20											78.0	58.0	64.0					20																	60740531		2203	4300	6503	60173926	SO:0001583	missense	26039			AB014593	CCDS13491.1	20q13.3	2008-07-28			ENSG00000184402	ENSG00000184402			15592	protein-coding gene	gene with protein product		606472					Standard	XM_005260389		Approved	KIAA0693	uc002ycb.3	O75177	OTTHUMG00000032902	ENST00000331758.3:c.877C>T	20.37:g.60740531C>T	ENSP00000333012:p.Arg293Trp	Somatic		Capture	Illumina HiSeq	Phase_I	60173926	A6NNE3|A8K620|B3KWR8|E1P5H7|Q5JXJ3|Q6MZV9|Q6NTH3|Q6XYD9|Q8NE69|Q9BR55|Q9H4K6	Missense_Mutation	SNP	ENST00000331758.3	37	CCDS13491.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.653949	0.47362	.	.	ENSG00000184402	ENST00000421564;ENST00000331758;ENST00000370848	T;T;T	0.37915	1.17;1.17;1.2	5.09	1.56	0.23342	.	0.053577	0.64402	D	0.000002	T	0.55386	0.1917	L	0.59436	1.845	0.35417	D	0.792929	D;D	0.89917	1.0;1.0	D;D	0.87578	0.965;0.998	T	0.70029	-0.4984	10	0.87932	D	0	-51.9805	16.4383	0.83889	0.4049:0.5951:0.0:0.0	.	293;293	B4DSR7;O75177	.;CREST_HUMAN	W	293;293;296	ENSP00000393999:R293W;ENSP00000333012:R293W;ENSP00000359885:R296W	ENSP00000333012:R293W	R	+	1	2	SS18L1	60173926	0.992000	0.36948	0.932000	0.37286	0.186000	0.23388	1.432000	0.34936	0.514000	0.28300	0.313000	0.20887	CGG		SS18L1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080004.2		
OSBPL2	9885	hgsc.bcm.edu	37	20	60859123	60859123	+	Silent	SNP	C	C	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr20:60859123C>T	ENST00000313733.3	+	10	1096	c.894C>T	c.(892-894)atC>atT	p.I298I	OSBPL2_ENST00000358053.2_Silent_p.I286I|OSBPL2_ENST00000439951.2_Silent_p.I206I	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	298					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)	p.I298I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			TCTTTATGATCTATGGCAAAT	0.408																																																	1	Substitution - coding silent(1)	central_nervous_system(1)	20											96.0	90.0	92.0					20																	60859123		2203	4300	6503	60292518	SO:0001819	synonymous_variant	9885			AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"""Oxysterol binding proteins"""	15761	protein-coding gene	gene with protein product		606731	"""oxysterol-binding protein-like 2"""			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.894C>T	20.37:g.60859123C>T		Somatic		Capture	Illumina HiSeq	Phase_I	60292518	A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Silent	SNP	ENST00000313733.3	37	CCDS13495.1																																																																																				OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	NM_014835	
DIDO1	11083	hgsc.bcm.edu	37	20	61527957	61527957	+	Silent	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr20:61527957A>G	ENST00000266070.4	-	7	2305	c.1980T>C	c.(1978-1980)agT>agC	p.S660S	DIDO1_ENST00000395343.1_Silent_p.S660S|DIDO1_ENST00000395335.2_Silent_p.S660S|DIDO1_ENST00000395340.1_Silent_p.S660S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	660					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ATGGTGCAGCACTCATAGCCC	0.522																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												0			20											91.0	104.0	99.0					20																	61527957		2203	4300	6503	60998402	SO:0001819	synonymous_variant	11083			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.1980T>C	20.37:g.61527957A>G		Somatic		Capture	Illumina HiSeq	Phase_I	60998402	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	CCDS33506.1																																																																																				DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796	
C20orf195	79025	hgsc.bcm.edu	37	20	62187859	62187859	+	Missense_Mutation	SNP	C	C	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr20:62187859C>A	ENST00000370098.3	+	2	935	c.843C>A	c.(841-843)ttC>ttA	p.F281L	C20orf195_ENST00000370097.1_Missense_Mutation_p.F281L	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	281	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular vesicular exosome (GO:0070062)				large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CCTATAAGTTCACCATCAAGA	0.662																																																	0			20											98.0	103.0	101.0					20																	62187859		2203	4299	6502	61658303	SO:0001583	missense	79025				CCDS13526.1	20q13.33	2014-02-12			ENSG00000125531	ENSG00000125531			28764	protein-coding gene	gene with protein product						12477932	Standard	NM_024059		Approved	MGC5356	uc002yfj.3	Q9BVV2	OTTHUMG00000032980	ENST00000370098.3:c.843C>A	20.37:g.62187859C>A	ENSP00000359116:p.Phe281Leu	Somatic		Capture	Illumina HiSeq	Phase_I	61658303		Missense_Mutation	SNP	ENST00000370098.3	37	CCDS13526.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.368487	0.82463	.	.	ENSG00000125531	ENST00000370098;ENST00000370097	.	.	.	5.53	4.6	0.57074	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000028	T	0.65575	0.2704	L	0.29908	0.895	0.37785	D	0.927165	D	0.76494	0.999	D	0.83275	0.996	T	0.72659	-0.4226	9	0.87932	D	0	-26.5899	14.328	0.66532	0.0:0.9283:0.0:0.0717	.	281	Q9BVV2	CT195_HUMAN	L	281	.	ENSP00000359115:F281L	F	+	3	2	C20orf195	61658303	0.999000	0.42202	1.000000	0.80357	0.950000	0.60333	2.025000	0.41059	1.355000	0.45865	-0.136000	0.14681	TTC		C20orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080155.1	NM_024059	
KLHL22	84861	hgsc.bcm.edu	37	22	20843447	20843447	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr22:20843447A>G	ENST00000328879.4	-	2	208	c.52T>C	c.(52-54)Tca>Cca	p.S18P	KLHL22_ENST00000470335.1_5'UTR|KLHL22_ENST00000440659.2_5'UTR	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	18					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TGTGGGTGTGAGGGCTGTGCA	0.597																																																	0			22											146.0	117.0	127.0					22																	20843447		2203	4300	6503	19173447	SO:0001583	missense	84861				CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"""Kelch-like"", ""BTB/POZ domain containing"""	25888	protein-coding gene	gene with protein product			"""kelch-like 22 (Drosophila)"""			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.52T>C	22.37:g.20843447A>G	ENSP00000331682:p.Ser18Pro	Somatic		Capture	Illumina HiSeq	Phase_I	19173447	A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Missense_Mutation	SNP	ENST00000328879.4	37	CCDS13780.1	.	.	.	.	.	.	.	.	.	.	a	11.57	1.677315	0.29783	.	.	ENSG00000099910	ENST00000328879;ENST00000444967;ENST00000458248;ENST00000443285;ENST00000431430;ENST00000423364	T;T;T;T;D	0.85258	-0.9;-0.59;-0.51;-0.56;-1.96	4.88	-0.477	0.12097	.	0.804957	0.11543	N	0.553590	T	0.63248	0.2495	N	0.08118	0	0.19575	N	0.999969	B	0.02656	0.0	B	0.01281	0.0	T	0.48625	-0.9019	10	0.22109	T	0.4	.	1.9928	0.03450	0.4783:0.276:0.0929:0.1529	.	18	Q53GT1	KLH22_HUMAN	P	18;50;18;52;18;50	ENSP00000331682:S18P;ENSP00000403999:S50P;ENSP00000398616:S18P;ENSP00000397882:S52P;ENSP00000409092:S18P	ENSP00000331682:S18P	S	-	1	0	KLHL22	19173447	0.918000	0.31147	0.917000	0.36280	0.887000	0.51463	0.241000	0.18065	0.180000	0.19960	0.449000	0.29647	TCA		KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775	
TTC28	23331	hgsc.bcm.edu	37	22	28395102	28395102	+	Silent	SNP	G	G	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr22:28395102G>A	ENST00000397906.2	-	16	4686	c.4545C>T	c.(4543-4545)tcC>tcT	p.S1515S	TTC28-AS1_ENST00000453632.1_RNA|TTC28-AS1_ENST00000452612.1_RNA|TTC28-AS1_ENST00000417497.1_RNA|TTC28-AS1_ENST00000426594.1_RNA|TTC28-AS1_ENST00000434221.1_RNA|TTC28-AS1_ENST00000428584.1_RNA|TTC28-AS1_ENST00000454741.1_RNA|TTC28-AS1_ENST00000424161.1_RNA|TTC28-AS1_ENST00000435348.1_RNA|TTC28-AS1_ENST00000433317.1_RNA	NM_001145418.1	NP_001138890.1	Q96AY4	TTC28_HUMAN	tetratricopeptide repeat domain 28	1515					mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle (GO:0007346)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)				endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)	12						CCAGCAGCTCGGACACCATGT	0.647																																																	0			22											57.0	59.0	59.0					22																	28395102		692	1591	2283	26725102	SO:0001819	synonymous_variant	23331			AB028966	CCDS46678.1	22q12.1	2013-01-10			ENSG00000100154	ENSG00000100154		"""Tetratricopeptide (TTC) repeat domain containing"""	29179	protein-coding gene	gene with protein product		615098				10470851	Standard	NM_001145418		Approved	KIAA1043	uc003adp.4	Q96AY4	OTTHUMG00000151006	ENST00000397906.2:c.4545C>T	22.37:g.28395102G>A		Somatic		Capture	Illumina HiSeq	Phase_I	26725102	K7ZRV2|O95928|O95929|Q5W189|Q9NTE4|Q9UG31|Q9UGG5|Q9UPV8|Q9Y3S5	Silent	SNP	ENST00000397906.2	37	CCDS46678.1																																																																																				TTC28-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000320930.2	XM_929318	
YWHAH	7533	hgsc.bcm.edu	37	22	32352207	32352207	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr22:32352207C>T	ENST00000248975.5	+	2	442	c.169C>T	c.(169-171)Cga>Tga	p.R57*	snoU13_ENST00000459049.1_RNA|YWHAH_ENST00000397492.1_3'UTR|YWHAH_ENST00000471374.1_3'UTR	NM_003405.3	NP_003396.1	Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta	57		Interaction with phosphoserine on interacting protein.			apoptotic process (GO:0006915)|glucocorticoid catabolic process (GO:0006713)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular protein transport (GO:0006886)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane depolarization during action potential (GO:0086010)|membrane organization (GO:0061024)|negative regulation of dendrite morphogenesis (GO:0050774)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of sodium ion transport (GO:0002028)|regulation of synaptic plasticity (GO:0048167)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|glucocorticoid receptor binding (GO:0035259)|insulin-like growth factor receptor binding (GO:0005159)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|sodium channel regulator activity (GO:0017080)	p.R57*(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						TGGTGCCAGGCGATCTTCCTG	0.458																																					Ovarian(98;460 2060 9263 44007)												1	Substitution - Nonsense(1)	central_nervous_system(1)	22											94.0	86.0	89.0					22																	32352207		2203	4300	6503	30682207	SO:0001587	stop_gained	7533			X78138	CCDS13901.1	22q12.1-q13.1	2013-12-03	2013-12-03		ENSG00000128245	ENSG00000128245			12853	protein-coding gene	gene with protein product	"""14-3-3 eta"""	113508	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide"""	YWHA1			Standard	NM_003405		Approved		uc003alz.3	Q04917	OTTHUMG00000030833	ENST00000248975.5:c.169C>T	22.37:g.32352207C>T	ENSP00000248975:p.Arg57*	Somatic		Capture	Illumina HiSeq	Phase_I	30682207		Nonsense_Mutation	SNP	ENST00000248975.5	37	CCDS13901.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422997	0.62733	.	.	ENSG00000128245	ENST00000248975;ENST00000420430	.	.	.	5.95	4.94	0.65067	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.4622	13.8121	0.63270	0.0:0.9277:0.0:0.0723	.	.	.	.	X	57;44	.	ENSP00000248975:R57X	R	+	1	2	YWHAH	30682207	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.630000	0.83225	1.527000	0.49086	0.655000	0.94253	CGA		YWHAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075721.2	NM_003405	
APOBEC3H	164668	hgsc.bcm.edu	37	22	39497388	39497388	+	Silent	SNP	C	C	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr22:39497388C>T	ENST00000401756.1	+	3	373	c.297C>T	c.(295-297)caC>caT	p.H99H	APOBEC3H_ENST00000421988.2_Silent_p.H99H|APOBEC3H_ENST00000442487.3_Silent_p.H99H|APOBEC3H_ENST00000348946.4_Silent_p.H99H	NM_001166003.1	NP_001159475.1	Q6NTF7	ABC3H_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H	99					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.H99H(1)		central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					TCAAGGCTCACGACCATCTGA	0.612																																																	1	Substitution - coding silent(1)	ovary(1)	22											115.0	81.0	93.0					22																	39497388		2203	4300	6503	37827334	SO:0001819	synonymous_variant	164668			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.297C>T	22.37:g.39497388C>T		Somatic		Capture	Illumina HiSeq	Phase_I	37827334	B0QYP0|B0QYP1|B7TQM5|E9PF38|Q5JYL9|Q6IC87	Silent	SNP	ENST00000401756.1	37	CCDS54530.1																																																																																				APOBEC3H-002	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000321230.1	NM_181773	
CACNA1I	8911	hgsc.bcm.edu	37	22	39966975	39966975	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr22:39966975T>C	ENST00000402142.3	+	1	218	c.218T>C	c.(217-219)aTc>aCc	p.I73T	CACNA1I_ENST00000401624.1_Missense_Mutation_p.I73T|CACNA1I_ENST00000407673.1_Missense_Mutation_p.I73T|CACNA1I_ENST00000400164.3_Missense_Mutation_p.I73T|CACNA1I_ENST00000404898.1_Missense_Mutation_p.I73T|CACNA1I_ENST00000336649.4_Missense_Mutation_p.I73T	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	73					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	AACTGGTGCATCAAGATGGTG	0.627																																																	0			22											73.0	79.0	77.0					22																	39966975		2096	4205	6301	38296921	SO:0001583	missense	8911			AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.218T>C	22.37:g.39966975T>C	ENSP00000385019:p.Ile73Thr	Somatic		Capture	Illumina HiSeq	Phase_I	38296921	B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	T	16.19	3.052127	0.55218	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.97404	-4.37;-4.33;-4.36;-4.33;-4.31;-4.22	5.27	5.27	0.74061	.	4.175510	0.01876	N	0.037522	D	0.96037	0.8709	N	0.19112	0.55	0.52501	D	0.999956	P;P	0.51933	0.949;0.915	P;B	0.49085	0.6;0.395	D	0.86292	0.1674	10	0.39692	T	0.17	.	15.4677	0.75416	0.0:0.0:0.0:1.0	.	73;73	Q9P0X4-4;Q9P0X4	.;CAC1I_HUMAN	T	73	ENSP00000385019:I73T;ENSP00000384093:I73T;ENSP00000383887:I73T;ENSP00000385680:I73T;ENSP00000337829:I73T;ENSP00000383028:I73T	ENSP00000337829:I73T	I	+	2	0	CACNA1I	38296921	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.436000	0.80404	2.127000	0.65507	0.459000	0.35465	ATC		CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406	
CACNA1I	8911	hgsc.bcm.edu	37	22	40054286	40054286	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr22:40054286G>A	ENST00000402142.3	+	11	2122	c.2122G>A	c.(2122-2124)Gac>Aac	p.D708N	CACNA1I_ENST00000401624.1_Missense_Mutation_p.D708N|CACNA1I_ENST00000407673.1_Missense_Mutation_p.D673N|CACNA1I_ENST00000400164.3_Missense_Mutation_p.D673N|CACNA1I_ENST00000404898.1_Missense_Mutation_p.D673N|CACNA1I_ENST00000336649.4_Missense_Mutation_p.D714N	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	708					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CAACATCTTCGACAGCATCAT	0.542																																																	0			22											118.0	117.0	117.0					22																	40054286		2059	4206	6265	38384232	SO:0001583	missense	8911			AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.2122G>A	22.37:g.40054286G>A	ENSP00000385019:p.Asp708Asn	Somatic		Capture	Illumina HiSeq	Phase_I	38384232	B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	G	32	5.162891	0.94727	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.99376	-5.79;-5.79;-5.79;-5.79;-5.79;-5.79	5.21	5.21	0.72293	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99718	0.9891	H	0.98901	4.365	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.97108	0.9802	10	0.87932	D	0	.	18.1056	0.89519	0.0:0.0:1.0:0.0	.	673;708;673;708	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	N	708;673;708;673;714;673	ENSP00000385019:D708N;ENSP00000384093:D673N;ENSP00000383887:D708N;ENSP00000385680:D673N;ENSP00000337829:D714N;ENSP00000383028:D673N	ENSP00000337829:D714N	D	+	1	0	CACNA1I	38384232	1.000000	0.71417	0.966000	0.40874	0.721000	0.41392	9.754000	0.98908	2.579000	0.87056	0.655000	0.94253	GAC		CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406	
CELSR1	9620	hgsc.bcm.edu	37	22	46772969	46772969	+	Missense_Mutation	SNP	T	T	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr22:46772969T>A	ENST00000262738.3	-	24	7572	c.7573A>T	c.(7573-7575)Acg>Tcg	p.T2525S		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2525					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGGTTTTCCGTCTGGTTGATC	0.617																																																	0			22											57.0	46.0	49.0					22																	46772969		2203	4300	6503	45151633	SO:0001583	missense	9620			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.7573A>T	22.37:g.46772969T>A	ENSP00000262738:p.Thr2525Ser	Somatic		Capture	Illumina HiSeq	Phase_I	45151633	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	T	17.19	3.326221	0.60743	.	.	ENSG00000075275	ENST00000262738	T	0.46451	0.87	4.67	4.67	0.58626	GPCR, family 2-like (1);	0.000000	0.64402	U	0.000002	T	0.65502	0.2697	M	0.86573	2.825	0.80722	D	1	D;D	0.60575	0.988;0.962	D;P	0.64506	0.926;0.842	T	0.69851	-0.5033	10	0.42905	T	0.14	.	13.1435	0.59448	0.0:0.0:0.0:1.0	.	846;2525	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	S	2525	ENSP00000262738:T2525S	ENSP00000262738:T2525S	T	-	1	0	CELSR1	45151633	1.000000	0.71417	0.928000	0.36995	0.193000	0.23685	3.647000	0.54403	1.752000	0.51891	0.397000	0.26171	ACG		CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246	
TUBGCP6	85378	hgsc.bcm.edu	37	22	50656444	50656444	+	Silent	SNP	C	C	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr22:50656444C>A	ENST00000248846.5	-	24	5375	c.5271G>T	c.(5269-5271)ggG>ggT	p.G1757G	TUBGCP6_ENST00000439308.2_3'UTR|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1757					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CCCCAGGGGGCCCCCAGGCCT	0.612																																																	0			22											27.0	38.0	34.0					22																	50656444		2164	4220	6384	48998571	SO:0001819	synonymous_variant	85378			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.5271G>T	22.37:g.50656444C>A		Somatic		Capture	Illumina HiSeq	Phase_I	48998571	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	CCDS14087.1																																																																																				TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461	
PLXNB2	23654	hgsc.bcm.edu	37	22	50714223	50714223	+	Missense_Mutation	SNP	C	C	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr22:50714223C>G	ENST00000449103.1	-	37	5567	c.5427G>C	c.(5425-5427)ttG>ttC	p.L1809F	PLXNB2_ENST00000359337.4_Missense_Mutation_p.L1809F|AL022328.1_ENST00000595015.1_Missense_Mutation_p.Q41E			O15031	PLXB2_HUMAN	plexin B2	1809					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GATCCTCCTCCAAGGCATTGA	0.647											OREG0026679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			22											43.0	49.0	47.0					22																	50714223		2125	4263	6388	49056350	SO:0001583	missense	23654				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.5427G>C	22.37:g.50714223C>G	ENSP00000409171:p.Leu1809Phe	Somatic	971	Capture	Illumina HiSeq	Phase_I	49056350	A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.445964	0.63178	.	.	ENSG00000196576	ENST00000449103;ENST00000359337	T;T	0.16073	2.37;2.37	4.17	0.834	0.18880	.	0.000000	0.52532	D	0.000066	T	0.39279	0.1072	M	0.89478	3.035	0.50313	D	0.999869	D	0.89917	1.0	D	0.74348	0.983	T	0.19321	-1.0309	10	0.87932	D	0	.	4.928	0.13903	0.1506:0.5157:0.0:0.3337	.	1809	O15031	PLXB2_HUMAN	F	1809	ENSP00000409171:L1809F;ENSP00000352288:L1809F	ENSP00000352288:L1809F	L	-	3	2	PLXNB2	49056350	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	1.174000	0.31932	0.423000	0.26033	0.462000	0.41574	TTG		PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401	
OR4L1	122742	hgsc.bcm.edu	37	14	20529108	20529108	+	Missense_Mutation	SNP	G	G	T	rs144249994	byFrequency	TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr14:20529108G>T	ENST00000315683.1	+	1	905	c.905G>T	c.(904-906)cGg>cTg	p.R302L		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R302L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AGAAAATTACGGTTCCAATAT	0.303																																																	1	Substitution - Missense(1)	ovary(1)	14											51.0	57.0	55.0					14																	20529108		2203	4298	6501	19598948	SO:0001583	missense	122742				CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"""GPCR / Class A : Olfactory receptors"""	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.905G>T	14.37:g.20529108G>T	ENSP00000319217:p.Arg302Leu	Somatic		Capture	Illumina HiSeq	Phase_I	19598948	Q6IEZ5	Missense_Mutation	SNP	ENST00000315683.1	37	CCDS32029.1	.	.	.	.	.	.	.	.	.	.	.	0.958	-0.704240	0.03255	.	.	ENSG00000176246	ENST00000315683	T	0.26660	1.72	4.37	-8.75	0.00834	.	2.575630	0.01495	N	0.017262	T	0.05640	0.0148	N	0.00427	-1.505	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.26155	-1.0111	10	0.11485	T	0.65	.	7.2034	0.25893	0.5851:0.0:0.1268:0.2881	.	302	Q8NH43	OR4L1_HUMAN	L	302	ENSP00000319217:R302L	ENSP00000319217:R302L	R	+	2	0	OR4L1	19598948	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.435000	0.02423	-2.238000	0.00712	-2.498000	0.00192	CGG		OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1		
OR11H4	390442	hgsc.bcm.edu	37	14	20711205	20711205	+	Silent	SNP	C	C	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr14:20711205C>T	ENST00000315409.2	+	1	308	c.255C>T	c.(253-255)tcC>tcT	p.S85S		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S85S(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		GGTATGTGTCCTCCACTATTC	0.453																																																	1	Substitution - coding silent(1)	ovary(1)	14											168.0	162.0	164.0					14																	20711205		2203	4300	6503	19781045	SO:0001819	synonymous_variant	390442				CCDS32034.1	14q11.2	2013-09-24			ENSG00000176198	ENSG00000176198		"""GPCR / Class A : Olfactory receptors"""	15347	protein-coding gene	gene with protein product							Standard	NM_001004479		Approved		uc010tld.2	Q8NGC9	OTTHUMG00000170852	ENST00000315409.2:c.255C>T	14.37:g.20711205C>T		Somatic		Capture	Illumina HiSeq	Phase_I	19781045	B2RNQ4|Q6IF07	Silent	SNP	ENST00000315409.2	37	CCDS32034.1																																																																																				OR11H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410678.1		
SLC39A2	29986	hgsc.bcm.edu	37	14	21467685	21467685	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr14:21467685T>C	ENST00000298681.4	+	1	237	c.80T>C	c.(79-81)aTc>aCc	p.I27T	SLC39A2_ENST00000554422.1_Missense_Mutation_p.I27T|RP11-84C10.4_ENST00000557335.1_RNA	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter), member 2	27					transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		CTTACTCCCATCTGCTTCAAA	0.517																																																	0			14											178.0	137.0	151.0					14																	21467685		2203	4300	6503	20537525	SO:0001583	missense	29986			AF186081	CCDS9563.1, CCDS58303.1	14q11.1	2013-05-22			ENSG00000165794	ENSG00000165794		"""Solute carriers"""	17127	protein-coding gene	gene with protein product		612166				10681536, 7751801	Standard	NM_014579		Approved	ZIP2	uc001vyr.3	Q9NP94	OTTHUMG00000029616	ENST00000298681.4:c.80T>C	14.37:g.21467685T>C	ENSP00000298681:p.Ile27Thr	Somatic		Capture	Illumina HiSeq	Phase_I	20537525	B2RC76|G3V5X2|Q4QQJ1|Q4V9S4|Q96JT6|Q9UD20	Missense_Mutation	SNP	ENST00000298681.4	37	CCDS9563.1	.	.	.	.	.	.	.	.	.	.	T	16.84	3.234179	0.58886	.	.	ENSG00000165794	ENST00000554422;ENST00000298681	T;T	0.52057	0.68;0.68	5.43	5.43	0.79202	.	0.187131	0.46758	D	0.000276	T	0.49474	0.1559	M	0.74881	2.28	0.35272	D	0.780523	P	0.43231	0.801	B	0.43990	0.438	T	0.62849	-0.6767	10	0.36615	T	0.2	-12.7817	7.9388	0.29946	0.0:0.0885:0.0:0.9115	.	27	Q9NP94	S39A2_HUMAN	T	27	ENSP00000452568:I27T;ENSP00000298681:I27T	ENSP00000298681:I27T	I	+	2	0	SLC39A2	20537525	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	3.101000	0.50283	2.279000	0.76181	0.533000	0.62120	ATC		SLC39A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073829.2	NM_014579	
MYH6	4624	hgsc.bcm.edu	37	14	23856751	23856751	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr14:23856751A>G	ENST00000356287.3	-	31	4666	c.4637T>C	c.(4636-4638)cTg>cCg	p.L1546P	MIR208A_ENST00000362287.1_RNA|MYH6_ENST00000405093.3_Missense_Mutation_p.L1546P			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1546					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TGCCTCCTCCAGGGCTGACTG	0.612																																																	0			14											89.0	69.0	76.0					14																	23856751		2203	4300	6503	22926591	SO:0001583	missense	4624			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.4637T>C	14.37:g.23856751A>G	ENSP00000348634:p.Leu1546Pro	Somatic		Capture	Illumina HiSeq	Phase_I	22926591	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	a	19.73	3.882334	0.72294	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.82167	-1.58;-1.58	4.64	4.64	0.57946	Myosin tail (1);	.	.	.	.	D	0.94112	0.8112	H	0.97265	3.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96016	0.9005	9	0.87932	D	0	.	14.3782	0.66892	1.0:0.0:0.0:0.0	.	1546	P13533	MYH6_HUMAN	P	1546	ENSP00000386041:L1546P;ENSP00000348634:L1546P	ENSP00000348634:L1546P	L	-	2	0	MYH6	22926591	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	9.111000	0.94308	1.860000	0.53959	0.459000	0.35465	CTG		MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3		
SRP54	6729	hgsc.bcm.edu	37	14	35492183	35492183	+	Silent	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr14:35492183A>G	ENST00000556994.1	+	15	1621	c.1224A>G	c.(1222-1224)agA>agG	p.R408R	SRP54_ENST00000216774.6_Silent_p.R408R|SRP54_ENST00000555557.1_Silent_p.R344R|SRP54_ENST00000546080.1_Silent_p.R359R			P61011	SRP54_HUMAN	signal recognition particle 54kDa	408	M-domain.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition (GO:0006617)|SRP-dependent cotranslational protein targeting to membrane, translocation (GO:0006616)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|drug binding (GO:0008144)|endoplasmic reticulum signal peptide binding (GO:0030942)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)	p.R408R(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		GAGTAGCAAGAGGATCGGGTG	0.393																																																	1	Substitution - coding silent(1)	ovary(1)	14											107.0	99.0	102.0					14																	35492183		2203	4300	6503	34561934	SO:0001819	synonymous_variant	6729			X86373	CCDS9652.1, CCDS53893.1	14q13.2	2014-06-02	2002-08-29		ENSG00000100883	ENSG00000100883			11301	protein-coding gene	gene with protein product		604857	"""signal recognition particle 54kD"""			8722571	Standard	NM_003136		Approved		uc001wso.3	P61011	OTTHUMG00000140214	ENST00000556994.1:c.1224A>G	14.37:g.35492183A>G		Somatic		Capture	Illumina HiSeq	Phase_I	34561934	B2R759|B4DUW6|P13624	Silent	SNP	ENST00000556994.1	37	CCDS9652.1																																																																																				SRP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276643.2	NM_003136	
SEC23A	10484	hgsc.bcm.edu	37	14	39565310	39565310	+	Silent	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr14:39565310A>G	ENST00000307712.6	-	2	530	c.13T>C	c.(13-15)Ttg>Ctg	p.L5L	SEC23A_ENST00000545328.2_Silent_p.L5L|SEC23A_ENST00000557280.1_Silent_p.L5L|SEC23A_ENST00000553970.1_Silent_p.L5L|SEC23A_ENST00000548032.2_Silent_p.L5L|SEC23A_ENST00000536508.1_Intron	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	5					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		ATGAATTCCAAATAGGTTGTC	0.333																																																	0			14											105.0	99.0	101.0					14																	39565310		2203	4300	6503	38635061	SO:0001819	synonymous_variant	10484			X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"""Sec23 (S. cerevisiae) homolog A"""			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.13T>C	14.37:g.39565310A>G		Somatic		Capture	Illumina HiSeq	Phase_I	38635061	B2R5P4|B3KXI2|Q8NE16	Silent	SNP	ENST00000307712.6	37	CCDS9668.1																																																																																				SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276728.2		
NIN	51199	hgsc.bcm.edu	37	14	51288636	51288636	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr14:51288636G>A	ENST00000382041.3	-	3	329	c.139C>T	c.(139-141)Cca>Tca	p.P47S	NIN_ENST00000530997.2_Missense_Mutation_p.P47S|NIN_ENST00000453196.1_Missense_Mutation_p.P47S|NIN_ENST00000389868.3_Missense_Mutation_p.P47S|NIN_ENST00000382043.4_Missense_Mutation_p.P47S|RP11-286O18.1_ENST00000555966.1_RNA|NIN_ENST00000324330.9_Missense_Mutation_p.P47S|NIN_ENST00000245441.5_Missense_Mutation_p.P47S	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)			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)					TGCAGCACTGGGGCCACCTCC	0.587			T	PDGFRB	MPD																																			Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0			14											242.0	231.0	235.0					14																	51288636		2203	4300	6503	50358386	SO:0001583	missense	51199			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.139C>T	14.37:g.51288636G>A	ENSP00000371472:p.Pro47Ser	Somatic		Capture	Illumina HiSeq	Phase_I	50358386	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	32	5.108196	0.94292	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196;ENST00000453401;ENST00000496749	T;T;T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21;1.95;1.75	5.5	5.5	0.81552	EF-hand-like domain (1);	0.103077	0.64402	D	0.000002	T	0.48314	0.1493	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	0.91635	0.998;0.999;0.998;0.999;0.998	T	0.49303	-0.8954	10	0.54805	T	0.06	-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;.;.	S	47;47;47;47;53;47;47;47;9;47	ENSP00000245441:P47S;ENSP00000374518:P47S;ENSP00000371474:P47S;ENSP00000371472:P47S;ENSP00000324210:P47S;ENSP00000412391:P47S;ENSP00000398641:P9S;ENSP00000431826:P47S	ENSP00000245441:P47S	P	-	1	0	NIN	50358386	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.986000	0.70563	2.576000	0.86940	0.655000	0.94253	CCA		NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946	
C14orf39	317761	hgsc.bcm.edu	37	14	60903645	60903645	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr14:60903645T>C	ENST00000321731.3	-	18	1841	c.1682A>G	c.(1681-1683)cAg>cGg	p.Q561R		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	561					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		ATTTTGACCCTGTCCAAATGA	0.323																																																	0			14											148.0	168.0	162.0					14																	60903645		2203	4295	6498	59973398	SO:0001583	missense	317761			AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.1682A>G	14.37:g.60903645T>C	ENSP00000324920:p.Gln561Arg	Somatic		Capture	Illumina HiSeq	Phase_I	59973398	Q08AQ4	Missense_Mutation	SNP	ENST00000321731.3	37	CCDS9746.1	.	.	.	.	.	.	.	.	.	.	T	13.00	2.106462	0.37145	.	.	ENSG00000179008	ENST00000321731	T	0.28454	1.61	5.39	2.9	0.33743	.	0.393532	0.21928	N	0.067061	T	0.22704	0.0548	L	0.40543	1.245	0.29979	N	0.817863	B	0.16802	0.019	B	0.14023	0.01	T	0.12656	-1.0539	10	0.49607	T	0.09	-0.1639	7.2177	0.25969	0.0:0.0767:0.146:0.7773	.	561	Q8N1H7	S6OS1_HUMAN	R	561	ENSP00000324920:Q561R	ENSP00000324920:Q561R	Q	-	2	0	C14orf39	59973398	1.000000	0.71417	0.998000	0.56505	0.824000	0.46624	2.532000	0.45659	0.892000	0.36259	0.455000	0.32223	CAG		C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276948.1	NM_174978	
MLH3	27030	hgsc.bcm.edu	37	14	75514888	75514888	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr14:75514888A>G	ENST00000556740.1	-	1	1506	c.1471T>C	c.(1471-1473)Ttc>Ctc	p.F491L	MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000355774.2_Missense_Mutation_p.F491L|MLH3_ENST00000238662.7_Missense_Mutation_p.F491L|MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000556257.1_Missense_Mutation_p.F491L			Q9UHC1	MLH3_HUMAN	mutL homolog 3	491					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TGTTCCAGGAAAGATTTTTTA	0.378								Mismatch excision repair (MMR)																																									0			14											90.0	97.0	94.0					14																	75514888		2203	4299	6502	74584641	SO:0001583	missense	27030			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.1471T>C	14.37:g.75514888A>G	ENSP00000452316:p.Phe491Leu	Somatic		Capture	Illumina HiSeq	Phase_I	74584641	P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.305360	0.00240	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	T;T;T;T	0.79554	-1.23;-1.23;-1.28;-1.23	5.34	3.02	0.34903	.	0.909482	0.09557	N	0.786102	T	0.59797	0.2220	N	0.08118	0	0.09310	N	0.999993	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46582	-0.9181	10	0.21014	T	0.42	7.7872	5.4098	0.16342	0.6728:0.1623:0.1649:0.0	.	491;491	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	L	491	ENSP00000348020:F491L;ENSP00000238662:F491L;ENSP00000451540:F491L;ENSP00000452316:F491L	ENSP00000238662:F491L	F	-	1	0	MLH3	74584641	0.001000	0.12720	0.137000	0.22149	0.389000	0.30415	0.662000	0.25038	0.873000	0.35799	0.477000	0.44152	TTC		MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381	
SERPINA11	256394	hgsc.bcm.edu	37	14	94912753	94912753	+	Missense_Mutation	SNP	G	G	C	rs576980680		TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr14:94912753G>C	ENST00000334708.3	-	3	896	c.832C>G	c.(832-834)Ctc>Gtc	p.L278V	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	278					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GGGTCAGGGAGGACCAGCAGC	0.542																																																	0			14											109.0	101.0	104.0					14																	94912753		2203	4300	6503	93982506	SO:0001583	missense	327657			BX248259	CCDS32149.1	14q32.13	2014-02-18	2005-08-18		ENSG00000186910	ENSG00000186910		"""Serine (or cysteine) peptidase inhibitors"""	19193	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11"""			15014966, 24172014	Standard	NM_001080451		Approved		uc001ydd.1	Q86U17	OTTHUMG00000171348	ENST00000334708.3:c.832C>G	14.37:g.94912753G>C	ENSP00000335024:p.Leu278Val	Somatic		Capture	Illumina HiSeq	Phase_I	93982506	B2RV07	Missense_Mutation	SNP	ENST00000334708.3	37	CCDS32149.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.341333	0.41498	.	.	ENSG00000186910	ENST00000334708	D	0.90444	-2.67	5.53	5.53	0.82687	Serpin domain (3);	0.000000	0.52532	D	0.000076	D	0.94938	0.8363	M	0.83012	2.62	0.39507	D	0.968291	D	0.89917	1.0	D	0.97110	1.0	D	0.95450	0.8533	10	0.87932	D	0	.	10.9211	0.47165	0.1448:0.0:0.8552:0.0	.	278	Q86U17	SPA11_HUMAN	V	278	ENSP00000335024:L278V	ENSP00000335024:L278V	L	-	1	0	SERPINA11	93982506	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	1.499000	0.35671	2.591000	0.87537	0.555000	0.69702	CTC		SERPINA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413091.1	NM_001080451	
IZUMO4	113177	hgsc.bcm.edu	37	19	2099265	2099265	+	Missense_Mutation	SNP	C	C	T	rs529446582	byFrequency	TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr19:2099265C>T	ENST00000395301.3	+	10	684	c.620C>T	c.(619-621)cCa>cTa	p.P207L	IZUMO4_ENST00000395307.2_Missense_Mutation_p.P189L|MOB3A_ENST00000357066.3_5'Flank	NM_001039846.1	NP_001034935.1	Q1ZYL8	IZUM4_HUMAN	IZUMO family member 4	207						extracellular region (GO:0005576)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	6						CTGGTATCGCCAGCCTTAAGG	0.667																																																	0			19											85.0	54.0	65.0					19																	2099265		2203	4300	6503	2050265	SO:0001583	missense	0			BC014609	CCDS35499.1, CCDS42458.1	19p13.3	2014-02-17	2010-07-29	2010-07-29	ENSG00000099840	ENSG00000099840		"""-"""	26950	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 36"""	C19orf36		12975309, 19658160, 22957301	Standard	XM_005259480		Approved		uc002luw.1	Q1ZYL8	OTTHUMG00000141290	ENST00000395301.3:c.620C>T	19.37:g.2099265C>T	ENSP00000378712:p.Pro207Leu	Somatic		Capture	Illumina HiSeq	Phase_I	2050265	A7RA93|A7RA94|Q6UXA2|Q96FT6|Q96L02	Missense_Mutation	SNP	ENST00000395301.3	37	CCDS42458.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.752625	0.49362	.	.	ENSG00000099840	ENST00000395307;ENST00000300960;ENST00000395301	T;T;T	0.24151	1.89;1.92;1.87	4.22	3.15	0.36227	.	0.491076	0.15303	N	0.269539	T	0.16557	0.0398	N	0.24115	0.695	0.30830	N	0.736812	B;P	0.36535	0.403;0.557	B;B	0.33750	0.121;0.169	T	0.10636	-1.0621	10	0.72032	D	0.01	-4.0013	9.542	0.39257	0.2205:0.7795:0.0:0.0	.	189;207	A7RA93;Q1ZYL8	.;IZUM4_HUMAN	L	236;189;207	ENSP00000378718:P236L;ENSP00000300960:P189L;ENSP00000378712:P207L	ENSP00000300960:P189L	P	+	2	0	IZUMO4	2050265	0.004000	0.15560	0.005000	0.12908	0.009000	0.06853	1.059000	0.30517	1.011000	0.39340	0.462000	0.41574	CCA		IZUMO4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280536.3	NM_052878	
TNFSF14	8740	hgsc.bcm.edu	37	19	6669933	6669933	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr19:6669933C>T	ENST00000599359.1	-	2	529	c.148G>A	c.(148-150)Ggg>Agg	p.G50R	TNFSF14_ENST00000326176.9_Intron|TNFSF14_ENST00000245912.3_Intron			O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	50					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of T cell chemotaxis (GO:0010820)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|receptor binding (GO:0005102)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						ACGGCCAGCCCGGCCCCCATC	0.667																																																	0			19											88.0	83.0	85.0					19																	6669933		2203	4300	6503	6620933	SO:0001583	missense	8740			AF036581	CCDS12171.1, CCDS45939.1	19p13.3	2008-02-05				ENSG00000125735		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11930	protein-coding gene	gene with protein product		604520				9462508	Standard	NM_172014		Approved	LIGHT, LTg, HVEM-L, CD258	uc002mfk.2	O43557		ENST00000599359.1:c.148G>A	19.37:g.6669933C>T	ENSP00000469049:p.Gly50Arg	Somatic		Capture	Illumina HiSeq	Phase_I	6620933	A8K7M2|C9J5H4|O75476|Q6FHA1|Q8WVF8|Q96LD2	Missense_Mutation	SNP	ENST00000599359.1	37	CCDS12171.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.096431	0.56075	.	.	ENSG00000125735	ENST00000245912	.	.	.	4.89	4.89	0.63831	.	0.782790	0.11148	N	0.594488	T	0.67896	0.2942	M	0.71581	2.175	0.80722	D	1	D	0.57257	0.979	P	0.51016	0.656	T	0.69862	-0.5030	9	0.87932	D	0	-21.115	13.902	0.63809	0.0:1.0:0.0:0.0	.	50	O43557	TNF14_HUMAN	R	50	.	ENSP00000245912:G50R	G	-	1	0	TNFSF14	6620933	0.004000	0.15560	0.876000	0.34364	0.011000	0.07611	1.540000	0.36115	2.409000	0.81822	0.563000	0.77884	GGG		TNFSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457863.1		
GPR108	56927	hgsc.bcm.edu	37	19	6734042	6734042	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr19:6734042G>T	ENST00000264080.7	-	6	549	c.523C>A	c.(523-525)Ccc>Acc	p.P175T	GPR108_ENST00000430424.4_5'UTR|GPR108_ENST00000598626.1_5'Flank	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	175						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GTTGACTTGGGCTTGCTGGCT	0.607											OREG0025092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			19											94.0	94.0	94.0					19																	6734042		1970	4153	6123	6685042	SO:0001583	missense	56927				CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"""GPCR / Unclassified : 7TM orphan receptors"""	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.523C>A	19.37:g.6734042G>T	ENSP00000264080:p.Pro175Thr	Somatic	636	Capture	Illumina HiSeq	Phase_I	6685042	B9EJD7	Missense_Mutation	SNP	ENST00000264080.7	37	CCDS42479.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.601|8.601	0.886912|0.886912	0.17540|0.17540	.|.	.|.	ENSG00000125734|ENSG00000125734	ENST00000549846|ENST00000264080	.|T	.|0.21361	.|2.01	3.87|3.87	-1.78|-1.78	0.07957|0.07957	.|.	.|13.593400	.|0.00628	.|U	.|0.000479	T|T	0.13756|0.13756	0.0333|0.0333	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	0.999999|0.999999	.|B	.|0.06786	.|0.001	.|B	.|0.08055	.|0.003	T|T	0.20405|0.20405	-1.0276|-1.0276	5|10	.|0.14252	.|T	.|0.57	0.1214|0.1214	7.5794|7.5794	0.27955|0.27955	0.0:0.3804:0.5139:0.1056|0.0:0.3804:0.5139:0.1056	.|.	.|175	.|Q9NPR9	.|GP108_HUMAN	D|T	157|175	.|ENSP00000264080:P175T	.|ENSP00000264080:P175T	A|P	-|-	2|1	0|0	GPR108|GPR108	6685042|6685042	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.034000|0.034000	0.12701|0.12701	0.222000|0.222000	0.17699|0.17699	-0.245000|-0.245000	0.09625|0.09625	-0.311000|-0.311000	0.09066|0.09066	GCC|CCC		GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2		
BEST2	54831	hgsc.bcm.edu	37	19	12866268	12866268	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr19:12866268C>T	ENST00000549706.1	+	6	1036	c.712C>T	c.(712-714)Cag>Tag	p.Q238*	BEST2_ENST00000042931.1_Nonsense_Mutation_p.Q238*|BEST2_ENST00000553030.1_Nonsense_Mutation_p.Q238*			Q8NFU1	BEST2_HUMAN	bestrophin 2	238					chloride transmembrane transport (GO:1902476)|membrane depolarization (GO:0051899)|sensory perception of smell (GO:0007608)	chloride channel complex (GO:0034707)|cilium (GO:0005929)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.Q238*(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						CGTGTACACGCAGGTAACCCC	0.498																																																	1	Substitution - Nonsense(1)	ovary(1)	19											135.0	131.0	132.0					19																	12866268		1994	4176	6170	12727268	SO:0001587	stop_gained	54831			AF440756	CCDS42506.1	19p13.13	2014-08-12	2006-10-18	2006-10-18	ENSG00000039987	ENSG00000039987		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17107	protein-coding gene	gene with protein product		607335	"""vitelliform macular dystrophy 2-like 1"""	VMD2L1		12032738, 16912113	Standard	NM_017682		Approved	FLJ20132	uc002mux.3	Q8NFU1	OTTHUMG00000169293	ENST00000549706.1:c.712C>T	19.37:g.12866268C>T	ENSP00000448310:p.Gln238*	Somatic		Capture	Illumina HiSeq	Phase_I	12727268	Q53YQ8|Q9NXP0	Nonsense_Mutation	SNP	ENST00000549706.1	37	CCDS42506.1	.	.	.	.	.	.	.	.	.	.	C	39	7.302286	0.98196	.	.	ENSG00000039987	ENST00000549706;ENST00000553030;ENST00000042931	.	.	.	4.13	4.13	0.48395	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-30.5097	15.6627	0.77199	0.0:1.0:0.0:0.0	.	.	.	.	X	238	.	ENSP00000042931:Q238X	Q	+	1	0	BEST2	12727268	1.000000	0.71417	0.998000	0.56505	0.712000	0.41017	7.458000	0.80787	2.283000	0.76528	0.544000	0.68410	CAG		BEST2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403343.1	NM_017682	
ZNF536	9745	hgsc.bcm.edu	37	19	30935438	30935438	+	Silent	SNP	C	C	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr19:30935438C>T	ENST00000355537.3	+	2	1116	c.969C>T	c.(967-969)caC>caT	p.H323H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	323					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGAAGGCACACATCACGGCCG	0.657																																																	0			19											90.0	101.0	97.0					19																	30935438		2203	4300	6503	35627278	SO:0001819	synonymous_variant	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.969C>T	19.37:g.30935438C>T		Somatic		Capture	Illumina HiSeq	Phase_I	35627278	A2RU18	Silent	SNP	ENST00000355537.3	37	CCDS32984.1																																																																																				ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717	
ZNF568	374900	hgsc.bcm.edu	37	19	37440553	37440553	+	Silent	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr19:37440553A>G	ENST00000333987.7	+	7	1004	c.498A>G	c.(496-498)tcA>tcG	p.S166S	ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000415168.1_Silent_p.S102S|ZNF568_ENST00000455427.2_Intron	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	166					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)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTCTGAGTTCAGACATTGTTA	0.338																																																	0			19											90.0	83.0	85.0					19																	37440553		1839	4084	5923	42132393	SO:0001819	synonymous_variant	374900			BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.498A>G	19.37:g.37440553A>G		Somatic		Capture	Illumina HiSeq	Phase_I	42132393	B4DS92|E7ER33|Q6N060|Q8NA64	Silent	SNP	ENST00000333987.7	37	CCDS42558.1																																																																																				ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539	
ACTN4	81	hgsc.bcm.edu	37	19	39198787	39198787	+	Silent	SNP	G	G	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr19:39198787G>C	ENST00000252699.2	+	6	679	c.603G>C	c.(601-603)ctG>ctC	p.L201L	ACTN4_ENST00000390009.3_Intron|ACTN4_ENST00000424234.2_Intron	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	201	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCAATGCCCTGATCCACCGGC	0.577																																					Colon(168;199 1940 10254 46213 46384)												0			19											228.0	150.0	177.0					19																	39198787		2203	4300	6503	43890627	SO:0001819	synonymous_variant	81			D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.603G>C	19.37:g.39198787G>C		Somatic		Capture	Illumina HiSeq	Phase_I	43890627	A4K467|D6PXK4|O76048	Silent	SNP	ENST00000252699.2	37	CCDS12518.1																																																																																				ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1		
ZNF285	26974	hgsc.bcm.edu	37	19	44890675	44890675	+	Missense_Mutation	SNP	G	G	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr19:44890675G>C	ENST00000330997.4	-	4	1796	c.1732C>G	c.(1732-1734)Ctg>Gtg	p.L578V	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.L585V|ZNF285_ENST00000544719.2_Missense_Mutation_p.L578V	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	578					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TGATGAGTCAGAAGGTCCTTT	0.413																																																	0			19											152.0	124.0	134.0					19																	44890675		2203	4300	6503	49582515	SO:0001583	missense	26974			AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1732C>G	19.37:g.44890675G>C	ENSP00000333595:p.Leu578Val	Somatic		Capture	Illumina HiSeq	Phase_I	49582515	Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.560447	0.00910	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.05925	3.37	3.13	0.867	0.19085	.	.	.	.	.	T	0.02807	0.0084	N	0.16656	0.425	0.09310	N	1	B;B	0.21905	0.062;0.062	B;B	0.14578	0.011;0.011	T	0.46498	-0.9187	9	0.07990	T	0.79	.	1.9762	0.03416	0.1221:0.3441:0.3472:0.1865	.	602;578	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	V	601;578	ENSP00000333595:L578V	ENSP00000333595:L578V	L	-	1	2	ZNF285	49582515	0.002000	0.14202	0.005000	0.12908	0.359000	0.29487	0.684000	0.25364	0.612000	0.30071	0.454000	0.30748	CTG		ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354	
SIGLEC6	946	hgsc.bcm.edu	37	19	52031044	52031044	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr19:52031044T>C	ENST00000425629.3	-	7	1299	c.1145A>G	c.(1144-1146)cAa>cGa	p.Q382R	SIGLEC6_ENST00000359982.4_Intron|SIGLEC6_ENST00000343300.4_Intron|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.Q330R|SIGLEC6_ENST00000474054.1_5'UTR|SIGLEC6_ENST00000391797.3_Intron|SIGLEC6_ENST00000346477.3_Missense_Mutation_p.Q366R	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	382					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		ATCCGTGTTTTGCACTGGCTG	0.488																																																	0			19											182.0	179.0	180.0					19																	52031044		1941	4154	6095	56722856	SO:0001583	missense	946			D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.1145A>G	19.37:g.52031044T>C	ENSP00000401502:p.Gln382Arg	Somatic		Capture	Illumina HiSeq	Phase_I	56722856	A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	ENST00000425629.3	37	CCDS12834.3	.	.	.	.	.	.	.	.	.	.	.	5.390	0.257190	0.10239	.	.	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000436458	T;T	0.48201	1.26;0.82	3.02	-3.81	0.04294	.	.	.	.	.	T	0.32285	0.0824	L	0.40543	1.245	0.09310	N	1	B;B;B	0.19200	0.001;0.034;0.007	B;B;B	0.20577	0.003;0.03;0.006	T	0.22591	-1.0212	9	0.29301	T	0.29	.	6.4581	0.21940	0.0:0.5627:0.1803:0.257	.	330;366;382	C9JBE5;O43699-3;O43699	.;.;SIGL6_HUMAN	R	355;366;382;330	ENSP00000401502:Q382R;ENSP00000410679:Q330R	ENSP00000344064:Q355R	Q	-	2	0	SIGLEC6	56722856	0.000000	0.05858	0.000000	0.03702	0.237000	0.25408	-0.429000	0.06982	-1.031000	0.03308	0.338000	0.21704	CAA		SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245	
PRKCG	5582	hgsc.bcm.edu	37	19	54395020	54395020	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr19:54395020A>G	ENST00000263431.3	+	6	904	c.622A>G	c.(622-624)Acg>Gcg	p.T208A	PRKCG_ENST00000540413.1_Missense_Mutation_p.T208A|PRKCG_ENST00000542049.1_Missense_Mutation_p.T95A|PRKCG_ENST00000536044.1_Missense_Mutation_p.T208A	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	208	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	TCGGAACCTGACGAAACAGAA	0.527																																																	0			19											142.0	116.0	125.0					19																	54395020		2203	4300	6503	59086832	SO:0001583	missense	5582			M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.622A>G	19.37:g.54395020A>G	ENSP00000263431:p.Thr208Ala	Somatic		Capture	Illumina HiSeq	Phase_I	59086832	B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	A	17.45	3.392993	0.62066	.	.	ENSG00000126583	ENST00000536044;ENST00000540413;ENST00000263431;ENST00000542049	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	5.25	5.25	0.73442	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.56187	0.1968	L	0.38838	1.175	0.45035	D	0.998055	B;B;B;B;B	0.18013	0.025;0.004;0.003;0.002;0.0	B;B;B;B;B	0.24701	0.055;0.027;0.014;0.007;0.006	T	0.51172	-0.8739	9	0.16420	T	0.52	.	13.4075	0.60922	1.0:0.0:0.0:0.0	.	95;208;208;208;208	B7Z8Q0;F5H5C4;B7Z870;B7Z3W6;P05129	.;.;.;.;KPCG_HUMAN	A	208;208;208;95	ENSP00000440541:T208A;ENSP00000443493:T208A;ENSP00000263431:T208A;ENSP00000438090:T95A	ENSP00000263431:T208A	T	+	1	0	PRKCG	59086832	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.608000	0.67654	2.124000	0.65301	0.459000	0.35465	ACG		PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739	
NKX3-1	4824	hgsc.bcm.edu	37	8	23538889	23538889	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr8:23538889G>T	ENST00000380871.4	-	2	587	c.550C>A	c.(550-552)Ctc>Atc	p.L184I	NKX3-1_ENST00000523261.1_Missense_Mutation_p.L109I	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	184					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|androgen receptor signaling pathway (GO:0030521)|branching involved in prostate gland morphogenesis (GO:0060442)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to steroid hormone stimulus (GO:0071383)|cellular response to tumor necrosis factor (GO:0071356)|dorsal aorta development (GO:0035907)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|heart development (GO:0007507)|male gonad development (GO:0008584)|metanephros development (GO:0001656)|mitotic cell cycle arrest (GO:0071850)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of transcription, DNA-templated (GO:0045892)|pharyngeal system development (GO:0060037)|positive regulation of androgen secretion (GO:2000836)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell death (GO:0010942)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein kinase B signaling (GO:0043491)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|salivary gland development (GO:0007431)|somitogenesis (GO:0001756)|steroid hormone mediated signaling pathway (GO:0043401)	intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|core promoter binding (GO:0001047)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|histone deacetylase binding (GO:0042826)|protein kinase activator activity (GO:0030295)|protein self-association (GO:0043621)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|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)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		TCCGAGGAGAGCTGCTTTCGC	0.577																																																	0			8											146.0	144.0	145.0					8																	23538889		2203	4300	6503	23594834	SO:0001583	missense	4824				CCDS6042.1, CCDS59095.1	8p21.2	2012-03-09	2007-07-09	2002-10-04	ENSG00000167034	ENSG00000167034		"""Homeoboxes / ANTP class : NKL subclass"""	7838	protein-coding gene	gene with protein product		602041	"""NK homeobox (Drosophila), family 3, A"", ""NK3 transcription factor related, locus 1 (Drosophila)"""	NKX3A		9226374	Standard	NM_006167		Approved	NKX3.1, BAPX2	uc011kzx.2	Q99801	OTTHUMG00000097851	ENST00000380871.4:c.550C>A	8.37:g.23538889G>T	ENSP00000370253:p.Leu184Ile	Somatic		Capture	Illumina HiSeq	Phase_I	23594834	O15465|Q9H2P4|Q9H2P5|Q9H2P6|Q9H2P7|Q9HBG0	Missense_Mutation	SNP	ENST00000380871.4	37	CCDS6042.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.989593	0.53934	.	.	ENSG00000167034	ENST00000380871;ENST00000300332;ENST00000523261	D;D	0.92249	-2.88;-3.0	5.87	5.87	0.94306	Homeobox (1);Homeodomain-like (1);	0.000000	0.44285	D	0.000467	D	0.92338	0.7569	M	0.64404	1.975	0.53005	D	0.99996	B	0.33212	0.402	B	0.40825	0.341	D	0.89561	0.3806	10	0.30078	T	0.28	.	18.0718	0.89410	0.0:0.0:1.0:0.0	.	184	Q99801	NKX31_HUMAN	I	184;140;109	ENSP00000370253:L184I;ENSP00000429729:L109I	ENSP00000300332:L140I	L	-	1	0	NKX3-1	23594834	0.993000	0.37304	0.998000	0.56505	0.393000	0.30537	1.201000	0.32259	2.941000	0.99782	0.655000	0.94253	CTC		NKX3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215141.2		
FGFR1	2260	hgsc.bcm.edu	37	8	38285891	38285891	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr8:38285891T>C	ENST00000447712.2	-	4	1362	c.421A>G	c.(421-423)Aca>Gca	p.T141A	FGFR1_ENST00000326324.6_Missense_Mutation_p.T52A|FGFR1_ENST00000397113.2_Missense_Mutation_p.T141A|FGFR1_ENST00000397091.5_Missense_Mutation_p.T141A|FGFR1_ENST00000397108.4_Missense_Mutation_p.T141A|FGFR1_ENST00000425967.3_Missense_Mutation_p.T174A|FGFR1_ENST00000397103.1_Missense_Mutation_p.T52A|FGFR1_ENST00000532791.1_Missense_Mutation_p.T141A|FGFR1_ENST00000335922.5_Missense_Mutation_p.T133A|RP11-350N15.4_ENST00000528407.1_RNA|FGFR1_ENST00000341462.5_Missense_Mutation_p.T144A|FGFR1_ENST00000356207.5_Missense_Mutation_p.T52A	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	141					angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GTGTTATCTGTTTCTTTCTCC	0.502		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""																														Melanoma(146;1153 1840 21453 21841 43625)			Dom	yes		8	8p11.2-p11.1	2260	fibroblast growth factor receptor 1	yes	L	0			8											228.0	234.0	232.0					8																	38285891		1985	4162	6147	38405048	SO:0001583	missense	2260			M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.421A>G	8.37:g.38285891T>C	ENSP00000400162:p.Thr141Ala	Somatic		Capture	Illumina HiSeq	Phase_I	38405048	A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Missense_Mutation	SNP	ENST00000447712.2	37	CCDS6107.2	.	.	.	.	.	.	.	.	.	.	T	8.797	0.932054	0.18131	.	.	ENSG00000077782	ENST00000397091;ENST00000425967;ENST00000447712;ENST00000341462;ENST00000310729;ENST00000532791;ENST00000397113;ENST00000356207;ENST00000335922;ENST00000326324;ENST00000397103;ENST00000397108;ENST00000326296;ENST00000525001;ENST00000526742;ENST00000529552;ENST00000530568;ENST00000434187	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.78003	-1.11;-1.12;-1.12;-1.11;-1.12;-1.11;-1.12;-1.14;-1.04;-1.05;-1.11;-0.93;-0.87;-0.91;-0.69;-0.05	5.69	4.42	0.53409	.	0.239911	0.43919	D	0.000510	T	0.47637	0.1456	N	0.03608	-0.345	0.32327	N	0.561608	B;B;B;B;B;B;B;B;B;B;B;B	0.13145	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.003;0.007;0.0	B;B;B;B;B;B;B;B;B;B;B;B	0.15484	0.002;0.001;0.001;0.001;0.0;0.001;0.002;0.0;0.001;0.006;0.013;0.001	T	0.49908	-0.8889	10	0.07813	T	0.8	.	4.9835	0.14178	0.2619:0.0909:0.0:0.6472	.	52;52;141;174;52;52;52;141;133;52;52;141	B5A959;P11362-3;P11362-7;P11362-21;B5A958;P11362-14;P11362-4;P11362;P11362-20;P11362-16;P11362-18;P11362-2	.;.;.;.;.;.;.;FGFR1_HUMAN;.;.;.;.	A	141;174;141;144;141;141;141;52;133;52;52;141;144;141;52;52;52;52	ENSP00000380280:T141A;ENSP00000393312:T174A;ENSP00000400162:T141A;ENSP00000340636:T144A;ENSP00000432972:T141A;ENSP00000380302:T141A;ENSP00000348537:T52A;ENSP00000337247:T133A;ENSP00000327229:T52A;ENSP00000380292:T52A;ENSP00000380297:T141A;ENSP00000434712:T141A;ENSP00000433569:T52A;ENSP00000435283:T52A;ENSP00000434473:T52A;ENSP00000392645:T52A	ENSP00000311337:T141A	T	-	1	0	FGFR1	38405048	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.128000	0.31369	2.174000	0.68829	0.460000	0.39030	ACA		FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
ADAM18	8749	hgsc.bcm.edu	37	8	39581383	39581383	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr8:39581383G>T	ENST00000265707.5	+	19	2179	c.2134G>T	c.(2134-2136)Gaa>Taa	p.E712*	ADAM18_ENST00000523755.1_3'UTR|ADAM18_ENST00000379866.1_Nonsense_Mutation_p.E688*|ADAM18_ENST00000541111.1_Nonsense_Mutation_p.E126*	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	712					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)	p.E712K(1)		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)			TAAAAGAAATGAAATAAGTAA	0.313																																																	1	Substitution - Missense(1)	skin(1)	8											101.0	107.0	105.0					8																	39581383		2202	4296	6498	39700540	SO:0001587	stop_gained	8749			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.2134G>T	8.37:g.39581383G>T	ENSP00000265707:p.Glu712*	Somatic		Capture	Illumina HiSeq	Phase_I	39700540	B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Nonsense_Mutation	SNP	ENST00000265707.5	37	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	g	44	11.243873	0.99536	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000541111	.	.	.	4.77	4.77	0.60923	.	0.000000	0.46758	D	0.000276	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0349	0.64638	0.0:0.0:1.0:0.0	.	.	.	.	X	712;688;126	.	ENSP00000265707:E712X	E	+	1	0	ADAM18	39700540	1.000000	0.71417	0.883000	0.34634	0.146000	0.21551	2.239000	0.43079	2.590000	0.87494	0.552000	0.68991	GAA		ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237	
C8orf34	116328	hgsc.bcm.edu	37	8	69358569	69358569	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr8:69358569A>G	ENST00000539993.1	+	3	772	c.223A>G	c.(223-225)Aaa>Gaa	p.K75E	C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000518698.1_Missense_Mutation_p.K161E|C8orf34_ENST00000348340.2_Missense_Mutation_p.K75E|C8orf34_ENST00000523686.1_Missense_Mutation_p.K75E|C8orf34_ENST00000337103.4_Missense_Mutation_p.K50E			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	75			K -> N (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.							NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AACAGAATCCAAAGGAACAAG	0.313																																																	0			8											75.0	80.0	79.0					8																	69358569		2203	4300	6503	69521123	SO:0001583	missense	116328			AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.223A>G	8.37:g.69358569A>G	ENSP00000438159:p.Lys75Glu	Somatic		Capture	Illumina HiSeq	Phase_I	69521123	A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	ENST00000539993.1	37		.	.	.	.	.	.	.	.	.	.	A	21.1	4.097843	0.76870	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000523686;ENST00000348340;ENST00000337103	T;T;T	0.54866	0.55;0.59;0.74	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.67373	0.2886	L	0.50919	1.6	0.44373	D	0.997272	P;D;D	0.71674	0.925;0.998;0.99	P;D;P	0.78314	0.54;0.991;0.819	T	0.65467	-0.6161	9	.	.	.	-25.6337	16.3631	0.83280	1.0:0.0:0.0:0.0	.	75;75;75	Q49A92;Q49A92-3;Q49A92-5	CH034_HUMAN;.;.	E	161;75;75;75;50	ENSP00000427820:K161E;ENSP00000438159:K75E;ENSP00000337174:K50E	.	K	+	1	0	C8orf34	69521123	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.839000	0.92120	2.266000	0.75297	0.533000	0.62120	AAA		C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958	
DCAF4L2	138009	hgsc.bcm.edu	37	8	88885187	88885187	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr8:88885187G>A	ENST00000319675.3	-	1	1109	c.1013C>T	c.(1012-1014)aCg>aTg	p.T338M		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	338								p.T338M(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CCAGATTCTCGTGTAGCAGTC	0.577																																																	1	Substitution - Missense(1)	large_intestine(1)	8											78.0	86.0	84.0					8																	88885187		2203	4300	6503	88954303	SO:0001583	missense	0			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.1013C>T	8.37:g.88885187G>A	ENSP00000316496:p.Thr338Met	Somatic		Capture	Illumina HiSeq	Phase_I	88954303		Missense_Mutation	SNP	ENST00000319675.3	37	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.862744	0.71949	.	.	ENSG00000176566	ENST00000319675	T	0.70282	-0.47	1.49	-0.835	0.10775	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	0.74207	0.3686	M	0.78916	2.43	0.35500	D	0.799753	D	0.56521	0.976	P	0.55508	0.777	T	0.74156	-0.3756	10	0.59425	D	0.04	.	5.5945	0.17319	0.3411:0.0:0.6589:0.0	.	338	Q8NA75	DC4L2_HUMAN	M	338	ENSP00000316496:T338M	ENSP00000316496:T338M	T	-	2	0	DCAF4L2	88954303	1.000000	0.71417	0.101000	0.21167	0.888000	0.51559	6.093000	0.71422	-0.533000	0.06323	0.467000	0.42956	ACG		DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418	
DPY19L4	286148	hgsc.bcm.edu	37	8	95746967	95746967	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr8:95746967G>T	ENST00000414645.2	+	3	336	c.237G>T	c.(235-237)tgG>tgT	p.W79C		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	79						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					GGAAATTCTGGTTTTCCAACA	0.388																																																	0			8											74.0	69.0	71.0					8																	95746967		2203	4300	6503	95816143	SO:0001583	missense	286148				CCDS34924.1	8q22.1	2006-11-24			ENSG00000156162	ENSG00000156162			27829	protein-coding gene	gene with protein product		613895					Standard	NM_181787		Approved		uc003ygx.2	Q7Z388	OTTHUMG00000164589	ENST00000414645.2:c.237G>T	8.37:g.95746967G>T	ENSP00000389630:p.Trp79Cys	Somatic		Capture	Illumina HiSeq	Phase_I	95816143	Q6ZW32|Q6ZW42|Q7Z329	Missense_Mutation	SNP	ENST00000414645.2	37	CCDS34924.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902307	0.72754	.	.	ENSG00000156162	ENST00000414645;ENST00000519176	T;T	0.56611	0.45;0.45	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.73313	0.3571	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74833	-0.3530	10	0.59425	D	0.04	-4.9868	19.2974	0.94128	0.0:0.0:1.0:0.0	.	79	Q7Z388	D19L4_HUMAN	C	79;50	ENSP00000389630:W79C;ENSP00000430417:W50C	ENSP00000389630:W79C	W	+	3	0	DPY19L4	95816143	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.392000	0.90180	2.537000	0.85549	0.591000	0.81541	TGG		DPY19L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379339.1	NM_181787	
VPS13B	157680	hgsc.bcm.edu	37	8	100847793	100847793	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr8:100847793A>G	ENST00000358544.2	+	54	9955	c.9844A>G	c.(9844-9846)Aaa>Gaa	p.K3282E	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.K3257E	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3282					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GGTTTATTGCAAAAAAATTCC	0.388																																					Colon(161;2205 2542 7338 31318)												0			8											57.0	61.0	60.0					8																	100847793		2203	4300	6503	100916969	SO:0001583	missense	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.9844A>G	8.37:g.100847793A>G	ENSP00000351346:p.Lys3282Glu	Somatic		Capture	Illumina HiSeq	Phase_I	100916969	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	14.72	2.618935	0.46736	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.69561	-0.41;-0.41	5.91	2.09	0.27110	.	0.392249	0.27730	N	0.018093	T	0.53302	0.1788	L	0.29908	0.895	0.80722	D	1	B;B	0.20368	0.003;0.044	B;B	0.15870	0.004;0.014	T	0.41538	-0.9503	10	0.36615	T	0.2	.	14.3265	0.66523	0.501:0.499:0.0:0.0	.	3257;3282	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	E	3257;3282	ENSP00000349685:K3257E;ENSP00000351346:K3282E	ENSP00000349685:K3257E	K	+	1	0	VPS13B	100916969	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	1.644000	0.37228	0.112000	0.17975	0.533000	0.62120	AAA		VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	
TMEM74	157753	hgsc.bcm.edu	37	8	109796472	109796472	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr8:109796472T>C	ENST00000297459.3	-	2	1034	c.856A>G	c.(856-858)Acg>Gcg	p.T286A	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	286					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				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)			TTTTCATTCGTGCTGGTTTTC	0.448																																																	0			8											87.0	84.0	85.0					8																	109796472		2203	4300	6503	109865648	SO:0001583	missense	157753			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.856A>G	8.37:g.109796472T>C	ENSP00000297459:p.Thr286Ala	Somatic		Capture	Illumina HiSeq	Phase_I	109865648		Missense_Mutation	SNP	ENST00000297459.3	37	CCDS6310.1	.	.	.	.	.	.	.	.	.	.	T	2.432	-0.330578	0.05314	.	.	ENSG00000164841	ENST00000297459	.	.	.	5.96	-4.89	0.03103	.	1.099310	0.06758	N	0.781274	T	0.23330	0.0564	N	0.10874	0.06	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.24440	-1.0160	9	0.32370	T	0.25	1.172	13.2251	0.59911	0.0:0.6257:0.1989:0.1753	.	286	Q96NL1	TMM74_HUMAN	A	286	.	ENSP00000297459:T286A	T	-	1	0	TMEM74	109865648	0.000000	0.05858	0.000000	0.03702	0.295000	0.27426	-0.976000	0.03786	-0.742000	0.04790	-0.408000	0.06270	ACG		TMEM74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380755.1	NM_153015	
CSMD3	114788	hgsc.bcm.edu	37	8	113267536	113267536	+	Missense_Mutation	SNP	G	G	A	rs536934063		TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr8:113267536G>A	ENST00000297405.5	-	62	10227	c.9983C>T	c.(9982-9984)aCc>aTc	p.T3328I	CSMD3_ENST00000343508.3_Missense_Mutation_p.T3288I|CSMD3_ENST00000352409.3_Missense_Mutation_p.T3258I|CSMD3_ENST00000455883.2_Missense_Mutation_p.T3159I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3328	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				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						ACATATTCTGGTGCTTGATCC	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G|||	1	0.000199681	0.0	0.0	5008	,	,		15874	0.001		0.0	False		,,,				2504	0.0																0			8											134.0	121.0	125.0					8																	113267536		2203	4300	6503	113336712	SO:0001583	missense	114788			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.9983C>T	8.37:g.113267536G>A	ENSP00000297405:p.Thr3328Ile	Somatic		Capture	Illumina HiSeq	Phase_I	113336712	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805355	0.70682	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21	5.19	4.31	0.51392	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.76212	0.3956	L	0.53561	1.675	0.43982	D	0.996674	D;D;B	0.89917	1.0;1.0;0.113	D;D;B	0.80764	0.994;0.993;0.07	T	0.72874	-0.4160	10	0.21014	T	0.42	.	15.3451	0.74330	0.0:0.0:0.8595:0.1405	.	3159;3328;3288	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	I	3288;3328;2598;3159;3258	ENSP00000345799:T3288I;ENSP00000297405:T3328I;ENSP00000341558:T2598I;ENSP00000412263:T3159I;ENSP00000343124:T3258I	ENSP00000297405:T3328I	T	-	2	0	CSMD3	113336712	1.000000	0.71417	0.999000	0.59377	0.904000	0.53231	5.346000	0.65992	1.415000	0.47037	0.650000	0.86243	ACC		CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
NOV	4856	hgsc.bcm.edu	37	8	120435161	120435161	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr8:120435161A>G	ENST00000259526.3	+	5	1090	c.863A>G	c.(862-864)aAg>aGg	p.K288R	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	Q9UIW2	PLXA1_HUMAN	nephroblastoma overexpressed	0	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)			CACACCTACAAGCCCAGGTTC	0.512																																																	0			8											88.0	87.0	87.0					8																	120435161		2203	4300	6503	120504342	SO:0001583	missense	6134			X96584	CCDS6328.1	8q24.12	2012-02-27	2012-02-27		ENSG00000136999	ENSG00000136999			7885	protein-coding gene	gene with protein product		164958	"""nephroblastoma overexpressed gene"""			1334251	Standard	NM_002514		Approved	IGFBP9, CCN3	uc003yoq.2	P48745	OTTHUMG00000164984	ENST00000259526.3:c.863A>G	8.37:g.120435161A>G	ENSP00000259526:p.Lys288Arg	Somatic		Capture	Illumina HiSeq	Phase_I	120504342		Missense_Mutation	SNP	ENST00000259526.3	37	CCDS6328.1	.	.	.	.	.	.	.	.	.	.	A	1.415	-0.574389	0.03882	.	.	ENSG00000136999	ENST00000259526	T	0.03717	3.83	5.85	4.7	0.59300	Cystine knot (1);Cystine knot, C-terminal (2);	0.045665	0.85682	D	0.000000	T	0.02193	0.0068	N	0.11845	0.185	0.33155	D	0.546207	B	0.24258	0.1	B	0.26094	0.066	T	0.26467	-1.0102	10	0.02654	T	1	-25.3212	10.3981	0.44214	0.8647:0.0:0.1353:0.0	.	288	P48745	NOV_HUMAN	R	288	ENSP00000259526:K288R	ENSP00000259526:K288R	K	+	2	0	NOV	120504342	1.000000	0.71417	1.000000	0.80357	0.447000	0.32167	1.511000	0.35801	1.048000	0.40298	-0.256000	0.11100	AAG		NOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381301.1	NM_002514	
DSCC1	79075	hgsc.bcm.edu	37	8	120865287	120865287	+	Splice_Site	SNP	C	C	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr8:120865287C>T	ENST00000313655.4	-	2	565	c.351G>A	c.(349-351)gaG>gaA	p.E117E		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	117					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)			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)			AAAAGAGCACCTCAGTGTGAA	0.333																																																	0			8											121.0	111.0	114.0					8																	120865287		2203	4300	6503	120934468	SO:0001630	splice_region_variant	79075				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.351+1G>A	8.37:g.120865287C>T		Somatic		Capture	Illumina HiSeq	Phase_I	120934468	Q969N5	Silent	SNP	ENST00000313655.4	37	CCDS6330.1																																																																																				DSCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381443.1	NM_024094	Silent
FER1L6	654463	hgsc.bcm.edu	37	8	124968258	124968258	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr8:124968258A>G	ENST00000522917.1	+	2	226	c.20A>G	c.(19-21)aAg>aGg	p.K7R	FER1L6_ENST00000399018.1_Missense_Mutation_p.K7R	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	7						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTGAAGGTGAAGAAGAAGAGA	0.443																																																	0			8											53.0	52.0	52.0					8																	124968258		1889	4113	6002	125037439	SO:0001583	missense	654463			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.20A>G	8.37:g.124968258A>G	ENSP00000428280:p.Lys7Arg	Somatic		Capture	Illumina HiSeq	Phase_I	125037439		Missense_Mutation	SNP	ENST00000522917.1	37	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.186230	0.78789	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.82711	-1.64;-1.64	5.55	5.55	0.83447	.	0.517672	0.11857	U	0.522712	D	0.85225	0.5648	L	0.29908	0.895	0.51233	D	0.999913	D	0.63880	0.993	D	0.70935	0.971	T	0.78610	-0.2137	10	0.21014	T	0.42	.	13.3499	0.60595	1.0:0.0:0.0:0.0	.	7	Q2WGJ9	FR1L6_HUMAN	R	7	ENSP00000428280:K7R;ENSP00000381982:K7R	ENSP00000381982:K7R	K	+	2	0	FER1L6	125037439	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.163000	0.50763	2.233000	0.73108	0.533000	0.62120	AAG		FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112	
FAM135B	51059	hgsc.bcm.edu	37	8	139153456	139153456	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr8:139153456T>C	ENST00000395297.1	-	17	3945	c.3775A>G	c.(3775-3777)Acc>Gcc	p.T1259A		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1259										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTAACCAGGGTGCTGTTGTTG	0.542										HNSCC(54;0.14)																																							0			8											118.0	124.0	122.0					8																	139153456		1941	4126	6067	139222638	SO:0001583	missense	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3775A>G	8.37:g.139153456T>C	ENSP00000378710:p.Thr1259Ala	Somatic		Capture	Illumina HiSeq	Phase_I	139222638	B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	T	2.364	-0.345923	0.05208	.	.	ENSG00000147724	ENST00000395297	T	0.39997	1.05	5.83	-0.834	0.10779	Domain of unknown function DUF676, lipase-like (1);	0.315094	0.34223	N	0.004148	T	0.21468	0.0517	N	0.25144	0.715	0.34459	D	0.701567	B	0.15719	0.014	B	0.17722	0.019	T	0.44065	-0.9352	10	0.02654	T	1	-6.9754	10.8411	0.46715	0.0:0.4948:0.0:0.5052	.	1259	Q49AJ0	F135B_HUMAN	A	1259	ENSP00000378710:T1259A	ENSP00000378710:T1259A	T	-	1	0	FAM135B	139222638	0.814000	0.29104	0.934000	0.37439	0.893000	0.52053	0.144000	0.16135	-0.368000	0.08040	-0.408000	0.06270	ACC		FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912	
RHPN1	114822	hgsc.bcm.edu	37	8	144461593	144461593	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr8:144461593G>A	ENST00000289013.6	+	8	961	c.860G>A	c.(859-861)tGt>tAt	p.C287Y		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	287	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)		small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			GCCCAGGAATGTGTGTTTGAG	0.677																																																	0			8											20.0	23.0	22.0					8																	144461593		2021	4176	6197	144532736	SO:0001583	missense	114822			AB067516	CCDS47927.1	8q24.3	2003-02-06			ENSG00000158106	ENSG00000158106			19973	protein-coding gene	gene with protein product		601031				11572484	Standard	NM_052924		Approved	KIAA1929, RHPN, ODF5	uc003yyb.3	Q8TCX5	OTTHUMG00000165006	ENST00000289013.6:c.860G>A	8.37:g.144461593G>A	ENSP00000289013:p.Cys287Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	144532736	Q8TAV1|Q96PV9	Missense_Mutation	SNP	ENST00000289013.6	37	CCDS47927.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.762631	0.49574	.	.	ENSG00000158106	ENST00000289013	T	0.21734	1.99	4.28	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.52565	0.1742	M	0.91354	3.2	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	T	0.62909	-0.6754	10	0.87932	D	0	-20.9379	11.7765	0.51989	0.0922:0.0:0.9078:0.0	.	287	Q8TCX5-2	.	Y	287	ENSP00000289013:C287Y	ENSP00000289013:C287Y	C	+	2	0	RHPN1	144532736	1.000000	0.71417	0.965000	0.40720	0.124000	0.20399	6.157000	0.71846	2.099000	0.63709	0.436000	0.28706	TGT		RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381417.1		
TONSL	4796	hgsc.bcm.edu	37	8	145667648	145667648	+	Silent	SNP	G	G	A	rs112264814	byFrequency	TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr8:145667648G>A	ENST00000409379.3	-	6	755	c.726C>T	c.(724-726)agC>agT	p.S242S	AC084125.4_ENST00000442850.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	242					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CGCAGCACTCGCTCTCCATGA	0.627													G|||	18	0.00359425	0.0129	0.0014	5008	,	,		20247	0.0		0.0	False		,,,				2504	0.0																0			8						G		24,4382	30.8+/-60.4	0,24,2179	80.0	73.0	75.0		726	1.4	1.0	8	dbSNP_132	75	0,8598		0,0,4299	no	coding-synonymous	TONSL	NM_013432.4		0,24,6478	AA,AG,GG		0.0,0.5447,0.1846		242/1379	145667648	24,12980	2203	4299	6502	145638456	SO:0001819	synonymous_variant	0				CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.726C>T	8.37:g.145667648G>A		Somatic		Capture	Illumina HiSeq	Phase_I	145638456	B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Silent	SNP	ENST00000409379.3	37	CCDS34968.2																																																																																				TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432	
ZNF436	80818	hgsc.bcm.edu	37	1	23689289	23689289	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr1:23689289A>G	ENST00000314011.4	-	4	722	c.586T>C	c.(586-588)Tgt>Cgt	p.C196R	ZNF436_ENST00000374608.3_Missense_Mutation_p.C196R	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	196			C -> G (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C196G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CACTCGTTACAGTCATAAGGC	0.433																																																	1	Substitution - Missense(1)	breast(1)	1											139.0	139.0	139.0					1																	23689289		2203	4300	6503	23561876	SO:0001583	missense	80818			AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"""Zinc fingers, C2H2-type"", ""-"""	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232	ENST00000314011.4:c.586T>C	1.37:g.23689289A>G	ENSP00000313582:p.Cys196Arg	Somatic		Capture	Illumina HiSeq	Phase_I	23561876	Q658I9	Missense_Mutation	SNP	ENST00000314011.4	37	CCDS233.1	.	.	.	.	.	.	.	.	.	.	A	18.74	3.688438	0.68271	.	.	ENSG00000125945	ENST00000314011;ENST00000374609;ENST00000374608	D;D;D	0.85258	-1.96;-1.96;-1.96	5.79	5.79	0.91817	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000004	D	0.95111	0.8416	H	0.97415	4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96563	0.9417	10	0.87932	D	0	-23.981	14.0897	0.64982	1.0:0.0:0.0:0.0	.	196	Q9C0F3	ZN436_HUMAN	R	196	ENSP00000313582:C196R;ENSP00000363737:C196R;ENSP00000363736:C196R	ENSP00000313582:C196R	C	-	1	0	ZNF436	23561876	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.339000	0.96797	2.212000	0.71576	0.533000	0.62120	TGT		ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008908.1	NM_030634	
THRAP3	9967	hgsc.bcm.edu	37	1	36754874	36754874	+	Silent	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr1:36754874T>C	ENST00000354618.5	+	5	1478	c.1254T>C	c.(1252-1254)ttT>ttC	p.F418F	THRAP3_ENST00000469141.2_Silent_p.F418F	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	418	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.F418L(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAGATGACTTTGAGAAGAAGA	0.418			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)			Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	1	Substitution - Missense(1)	ovary(1)	1											80.0	79.0	79.0					1																	36754874		2203	4300	6503	36527461	SO:0001819	synonymous_variant	9967			AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.1254T>C	1.37:g.36754874T>C		Somatic		Capture	Illumina HiSeq	Phase_I	36527461	D3DPS5|Q5VTK6	Silent	SNP	ENST00000354618.5	37	CCDS405.1																																																																																				THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119	
USP24	23358	hgsc.bcm.edu	37	1	55643711	55643711	+	Missense_Mutation	SNP	C	C	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr1:55643711C>A	ENST00000294383.6	-	2	418	c.419G>T	c.(418-420)tGg>tTg	p.W140L	USP24_ENST00000407756.1_Intron	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	140					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						AGGGATGGACCAATGATCAGT	0.423																																																	0			1											191.0	178.0	182.0					1																	55643711		692	1591	2283	55416299	SO:0001583	missense	23358			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.419G>T	1.37:g.55643711C>A	ENSP00000294383:p.Trp140Leu	Somatic		Capture	Illumina HiSeq	Phase_I	55416299	Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	C	32	5.142059	0.94560	.	.	ENSG00000162402	ENST00000294383	T	0.39056	1.1	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.62368	0.2422	M	0.66939	2.045	0.80722	D	1	.	.	.	.	.	.	T	0.63148	-0.6702	8	0.72032	D	0.01	.	19.869	0.96843	0.0:1.0:0.0:0.0	.	.	.	.	L	140	ENSP00000294383:W140L	ENSP00000294383:W140L	W	-	2	0	USP24	55416299	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.463000	0.80869	2.709000	0.92574	0.591000	0.81541	TGG		USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2		
PTGFR	5737	hgsc.bcm.edu	37	1	78959187	78959187	+	Silent	SNP	G	G	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr1:78959187G>A	ENST00000370757.3	+	2	996	c.759G>A	c.(757-759)gcG>gcA	p.A253A	PTGFR_ENST00000370756.3_Silent_p.A253A|PTGFR_ENST00000370758.1_Silent_p.A253A	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	253					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)	p.A253A(2)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	AGCTCCTGGCGATAATGTGTG	0.393																																																	2	Substitution - coding silent(2)	skin(2)	1											52.0	49.0	50.0					1																	78959187		2203	4300	6503	78731775	SO:0001819	synonymous_variant	5737			AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"""GPCR / Class A : Prostanoid receptors"""	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.759G>A	1.37:g.78959187G>A		Somatic		Capture	Illumina HiSeq	Phase_I	78731775	A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Silent	SNP	ENST00000370757.3	37	CCDS686.1																																																																																				PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959	
AKNAD1	254268	hgsc.bcm.edu	37	1	109394766	109394766	+	Missense_Mutation	SNP	G	G	T	rs367879802		TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr1:109394766G>T	ENST00000370001.3	-	2	789	c.521C>A	c.(520-522)cCg>cAg	p.P174Q	AKNAD1_ENST00000369994.1_Missense_Mutation_p.P174Q|AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369995.3_Missense_Mutation_p.P174Q	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	174						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						ATCCCTTTTCGGGTTGAGTTG	0.418																																																	0			1											62.0	63.0	63.0					1																	109394766		2203	4295	6498	109196289	SO:0001583	missense	0			AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.521C>A	1.37:g.109394766G>T	ENSP00000359018:p.Pro174Gln	Somatic		Capture	Illumina HiSeq	Phase_I	109196289	B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	CCDS791.2	.	.	.	.	.	.	.	.	.	.	G	11.91	1.780860	0.31502	.	.	ENSG00000162641	ENST00000370001;ENST00000369994;ENST00000369995	T;T;T	0.07567	3.19;3.2;3.18	5.77	-0.0409	0.13870	.	1.091290	0.06883	N	0.802857	T	0.08582	0.0213	M	0.62723	1.935	0.09310	N	1	D	0.76494	0.999	D	0.66716	0.946	T	0.25293	-1.0136	10	0.26408	T	0.33	-1.1097	4.9268	0.13898	0.2546:0.0:0.4217:0.3237	.	174	Q5T1N1	AKND1_HUMAN	Q	174	ENSP00000359018:P174Q;ENSP00000359011:P174Q;ENSP00000359012:P174Q	ENSP00000359011:P174Q	P	-	2	0	AKNAD1	109196289	0.007000	0.16637	0.000000	0.03702	0.003000	0.03518	1.891000	0.39738	0.309000	0.22966	-0.169000	0.13324	CCG		AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763	
RBM15	64783	hgsc.bcm.edu	37	1	110884866	110884866	+	Missense_Mutation	SNP	T	T	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr1:110884866T>A	ENST00000369784.3	+	1	3739	c.2839T>A	c.(2839-2841)Tac>Aac	p.Y947N	RBM15_ENST00000487146.2_Missense_Mutation_p.Y947N|RBM15_ENST00000602849.1_Missense_Mutation_p.Y947N	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	947	SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		TGAAGAAGATTACCTGGTCAT	0.473			T	MKL1	acute megakaryocytic leukemia																																			Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	0			1											83.0	86.0	85.0					1																	110884866		2203	4300	6503	110686389	SO:0001583	missense	64783			AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.2839T>A	1.37:g.110884866T>A	ENSP00000358799:p.Tyr947Asn	Somatic		Capture	Illumina HiSeq	Phase_I	110686389	A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	ENST00000369784.3	37	CCDS822.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.533732	0.45073	.	.	ENSG00000162775	ENST00000369784	T	0.20738	2.05	5.45	5.45	0.79879	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);Spen paralogue/orthologue C-terminal, metazoa (1);	0.000000	0.41294	D	0.000907	T	0.24509	0.0594	L	0.42245	1.32	0.54753	D	0.999982	D;P	0.64830	0.994;0.678	P;B	0.57776	0.827;0.116	T	0.01791	-1.1273	10	0.72032	D	0.01	-5.7387	15.4898	0.75597	0.0:0.0:0.0:1.0	.	947;947	Q96T37-3;Q96T37	.;RBM15_HUMAN	N	947	ENSP00000358799:Y947N	ENSP00000358799:Y947N	Y	+	1	0	RBM15	110686389	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.230000	0.72301	2.066000	0.61787	0.533000	0.62120	TAC		RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768	
SPAG17	200162	hgsc.bcm.edu	37	1	118570982	118570982	+	Missense_Mutation	SNP	C	C	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr1:118570982C>G	ENST00000336338.5	-	26	3710	c.3645G>C	c.(3643-3645)gaG>gaC	p.E1215D		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1215						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CATCCAAAGTCTCTTGTAAAA	0.393																																																	0			1											105.0	104.0	105.0					1																	118570982		2203	4300	6503	118372505	SO:0001583	missense	200162				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.3645G>C	1.37:g.118570982C>G	ENSP00000337804:p.Glu1215Asp	Somatic		Capture	Illumina HiSeq	Phase_I	118372505	Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.652551	0.29336	.	.	ENSG00000155761	ENST00000336338	T	0.32023	1.47	5.7	2.74	0.32292	.	0.908138	0.09653	N	0.773477	T	0.11410	0.0278	L	0.47716	1.5	0.23510	N	0.997527	B	0.27559	0.181	B	0.30646	0.118	T	0.37454	-0.9705	10	0.38643	T	0.18	.	6.4671	0.21987	0.0:0.6899:0.1486:0.1615	.	1215	Q6Q759	SPG17_HUMAN	D	1215	ENSP00000337804:E1215D	ENSP00000337804:E1215D	E	-	3	2	SPAG17	118372505	0.553000	0.26513	0.270000	0.24601	0.023000	0.10783	0.524000	0.22940	0.309000	0.22966	-0.126000	0.14955	GAG		SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	
GJA8	2703	hgsc.bcm.edu	37	1	147380806	147380806	+	Missense_Mutation	SNP	C	C	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr1:147380806C>A	ENST00000369235.1	+	1	724	c.724C>A	c.(724-726)Cag>Aag	p.Q242K	GJA8_ENST00000240986.4_Missense_Mutation_p.Q242K			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	242					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GCCTGTAGAGCAGCCCCTGGG	0.552																																					Melanoma(76;1255 1795 8195 52096)												0			1											60.0	59.0	59.0					1																	147380806		2203	4300	6503	145847430	SO:0001583	missense	2703			U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.724C>A	1.37:g.147380806C>A	ENSP00000358238:p.Gln242Lys	Somatic		Capture	Illumina HiSeq	Phase_I	145847430	A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	ENST00000369235.1	37	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	c	0.071	-1.202732	0.01581	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.97303	-4.33;-4.33	4.4	4.4	0.53042	.	1.571240	0.04405	N	0.364879	D	0.87313	0.6146	N	0.19112	0.55	0.34042	D	0.655108	B	0.31581	0.329	B	0.22753	0.041	T	0.66925	-0.5800	10	0.05959	T	0.93	.	14.0144	0.64515	0.0:0.8359:0.1641:0.0	.	242	P48165	CXA8_HUMAN	K	242	ENSP00000240986:Q242K;ENSP00000358238:Q242K	ENSP00000240986:Q242K	Q	+	1	0	GJA8	145847430	1.000000	0.71417	0.918000	0.36340	0.175000	0.22909	1.411000	0.34702	2.267000	0.75376	0.313000	0.20887	CAG		GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267	
ADAMTSL4	54507	hgsc.bcm.edu	37	1	150529180	150529180	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr1:150529180G>A	ENST00000369038.2	+	8	1861	c.1660G>A	c.(1660-1662)Gtc>Atc	p.V554I	ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.V554I|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.V554I|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.V577I|RP11-54A4.2_ENST00000442435.2_RNA			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	554					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	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;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CGGCGGGACCGTCTTTCGATA	0.642																																																	0			1											87.0	102.0	97.0					1																	150529180		2203	4300	6503	148795804	SO:0001583	missense	54507			BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.1660G>A	1.37:g.150529180G>A	ENSP00000358034:p.Val554Ile	Somatic		Capture	Illumina HiSeq	Phase_I	148795804	B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	37	CCDS955.1	.	.	.	.	.	.	.	.	.	.	G	7.230	0.599161	0.13939	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000407995;ENST00000369039;ENST00000369038	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	4.54	1.01	0.19927	ADAM-TS Spacer 1 (1);	.	.	.	.	T	0.18425	0.0442	L	0.37800	1.135	0.09310	N	1	B;B;B;B	0.28439	0.094;0.164;0.044;0.212	B;B;B;B	0.22601	0.04;0.016;0.027;0.029	T	0.15150	-1.0447	9	0.45353	T	0.12	.	6.9334	0.24453	0.4096:0.0:0.5904:0.0	.	577;577;554;554	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	I	554;554;92;577;554	ENSP00000358037:V554I;ENSP00000271643:V554I;ENSP00000358035:V577I;ENSP00000358034:V554I	ENSP00000271643:V554I	V	+	1	0	ADAMTSL4	148795804	0.037000	0.19845	0.093000	0.20910	0.077000	0.17291	1.051000	0.30417	0.022000	0.15160	0.462000	0.41574	GTC		ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032	
RFX5	5993	hgsc.bcm.edu	37	1	151316903	151316903	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr1:151316903C>T	ENST00000290524.4	-	7	641	c.463G>A	c.(463-465)Ggc>Agc	p.G155S	RFX5_ENST00000452513.2_Missense_Mutation_p.G115S|RP11-126K1.6_ENST00000455503.1_RNA|RP11-126K1.8_ENST00000422153.1_RNA|RFX5_ENST00000452671.2_Missense_Mutation_p.G155S|RFX5_ENST00000478564.1_5'Flank|RFX5_ENST00000368870.2_Missense_Mutation_p.G155S	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	155					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTGGACTGGCCCCGGCCACCA	0.547																																																	0			1											56.0	59.0	58.0					1																	151316903		2203	4300	6503	149583527	SO:0001583	missense	5993				CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.463G>A	1.37:g.151316903C>T	ENSP00000290524:p.Gly155Ser	Somatic		Capture	Illumina HiSeq	Phase_I	149583527	B7Z848|D3DV19|E9PFU4|Q5VWC3	Missense_Mutation	SNP	ENST00000290524.4	37	CCDS994.1	.	.	.	.	.	.	.	.	.	.	C	34	5.405671	0.96051	.	.	ENSG00000143390	ENST00000290524;ENST00000368870;ENST00000436637;ENST00000452671;ENST00000452513;ENST00000392746;ENST00000422595;ENST00000450506;ENST00000458484	D;D;D;D;D;D;D;D;D	0.96396	-4.0;-4.0;-4.0;-4.0;-4.0;-4.0;-4.0;-4.0;-4.0	5.91	5.91	0.95273	Winged helix-turn-helix transcription repressor DNA-binding (1);DNA-binding RFX (1);	0.000000	0.85682	D	0.000000	D	0.98507	0.9502	M	0.90705	3.14	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.942;1.0	D	0.99170	1.0864	10	0.87932	D	0	-13.2369	18.8584	0.92262	0.0:1.0:0.0:0.0	.	115;155	B7Z848;P48382	.;RFX5_HUMAN	S	155;155;47;155;115;155;155;155;155	ENSP00000290524:G155S;ENSP00000357864:G155S;ENSP00000390769:G47S;ENSP00000389130:G155S;ENSP00000398388:G115S;ENSP00000376502:G155S;ENSP00000399095:G155S;ENSP00000398666:G155S;ENSP00000409187:G155S	ENSP00000290524:G155S	G	-	1	0	RFX5	149583527	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.105000	0.77031	2.804000	0.96469	0.462000	0.41574	GGC		RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6	NM_000449	
HRNR	388697	hgsc.bcm.edu	37	1	152192382	152192382	+	Missense_Mutation	SNP	C	C	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr1:152192382C>G	ENST00000368801.2	-	3	1798	c.1723G>C	c.(1723-1725)Gag>Cag	p.E575Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	575					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCCAGACTCATATGGGCCA	0.582																																																	0			1											191.0	194.0	193.0					1																	152192382		2203	4300	6503	150459006	SO:0001583	missense	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1723G>C	1.37:g.152192382C>G	ENSP00000357791:p.Glu575Gln	Somatic		Capture	Illumina HiSeq	Phase_I	150459006	Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	5.607	0.296725	0.10622	.	.	ENSG00000197915	ENST00000368801	T	0.01685	4.69	3.75	-0.304	0.12788	.	.	.	.	.	T	0.00271	0.0008	N	0.03608	-0.345	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.30238	-0.9985	9	0.13108	T	0.6	.	4.7784	0.13190	0.0:0.5501:0.1582:0.2916	.	575	Q86YZ3	HORN_HUMAN	Q	575	ENSP00000357791:E575Q	ENSP00000357791:E575Q	E	-	1	0	HRNR	150459006	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.260000	0.08708	-0.265000	0.09352	-1.140000	0.01884	GAG		HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868	
ADAR	103	hgsc.bcm.edu	37	1	154570424	154570424	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr1:154570424G>C	ENST00000368474.4	-	4	2013	c.1814C>G	c.(1813-1815)tCa>tGa	p.S605*	ADAR_ENST00000368471.3_Nonsense_Mutation_p.S310*|ADAR_ENST00000292205.5_Nonsense_Mutation_p.S648*	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	605					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GGATGTGGCTGAAGGGGTGGG	0.478																																																	0			1											42.0	42.0	42.0					1																	154570424		2203	4300	6503	152837048	SO:0001587	stop_gained	103			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.1814C>G	1.37:g.154570424G>C	ENSP00000357459:p.Ser605*	Somatic		Capture	Illumina HiSeq	Phase_I	152837048	B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Nonsense_Mutation	SNP	ENST00000368474.4	37	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	G	37	6.072396	0.97256	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	.	.	.	5.27	5.27	0.74061	.	0.664062	0.15356	N	0.266655	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-14.7002	16.8542	0.86001	0.0:0.0:1.0:0.0	.	.	.	.	X	648;605;310;600	.	ENSP00000292205:S648X	S	-	2	0	ADAR	152837048	1.000000	0.71417	0.745000	0.31077	0.035000	0.12851	6.943000	0.75934	2.735000	0.93741	0.655000	0.94253	TCA		ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111	
FAM189B	10712	hgsc.bcm.edu	37	1	155218028	155218028	+	Missense_Mutation	SNP	C	C	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr1:155218028C>A	ENST00000361361.2	-	11	2155	c.1646G>T	c.(1645-1647)cGg>cTg	p.R549L	FAM189B_ENST00000472550.1_5'Flank|FAM189B_ENST00000350210.2_Missense_Mutation_p.R453L|FAM189B_ENST00000368368.3_Missense_Mutation_p.R531L	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	549			R -> H (in dbSNP:rs2072648).			integral component of membrane (GO:0016021)	WW domain binding (GO:0050699)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						CTCGGCTGACCGGGCACGTAG	0.627																																																	0			1											20.0	27.0	24.0					1																	155218028		2202	4299	6501	153484652	SO:0001583	missense	0			AF070550	CCDS1103.1, CCDS1104.1, CCDS58035.1	1q21	2009-07-09	2009-07-09	2009-07-09	ENSG00000160767	ENSG00000160767			1233	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 2"""	C1orf2		9331372	Standard	NM_006589		Approved	cote1	uc001fjm.3	P81408	OTTHUMG00000035844	ENST00000361361.2:c.1646G>T	1.37:g.155218028C>A	ENSP00000354958:p.Arg549Leu	Somatic		Capture	Illumina HiSeq	Phase_I	153484652	B1AVS5|Q8IXL3|Q9BR66	Missense_Mutation	SNP	ENST00000361361.2	37	CCDS1103.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.328796	0.41197	.	.	ENSG00000160767	ENST00000350210;ENST00000368368;ENST00000361361;ENST00000323361;ENST00000491082	T;T;T;T	0.03358	3.96;3.96;3.96;3.96	4.4	-0.871	0.10642	.	0.805350	0.11448	N	0.563040	T	0.00967	0.0032	N	0.08118	0	0.28236	N	0.92591	P;B;B;B	0.41546	0.754;0.089;0.433;0.089	B;B;B;B	0.44315	0.446;0.063;0.257;0.063	T	0.48736	-0.9009	10	0.72032	D	0.01	.	7.6332	0.28251	0.0:0.5161:0.0:0.4839	.	314;531;453;549	B1AVS2;B1AVS5;P81408-2;P81408	.;.;.;F189B_HUMAN	L	453;531;549;232;271	ENSP00000307128:R453L;ENSP00000357352:R531L;ENSP00000354958:R549L;ENSP00000427011:R271L	ENSP00000323164:R232L	R	-	2	0	FAM189B	153484652	0.781000	0.28676	0.747000	0.31113	0.641000	0.38312	0.049000	0.14099	-0.242000	0.09667	-0.274000	0.10170	CGG		FAM189B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087224.1	NM_006589	
KIAA0907	22889	hgsc.bcm.edu	37	1	155891282	155891282	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr1:155891282C>T	ENST00000368321.3	-	10	1173	c.1150G>A	c.(1150-1152)Gtg>Atg	p.V384M	SNORA42_ENST00000384744.1_RNA|KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368320.3_Missense_Mutation_p.V384M|KIAA0907_ENST00000368319.3_Missense_Mutation_p.S350N	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	384	Pro-rich.						RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GCTGGTGGCACTATGCTTGGT	0.522																																																	0			1											127.0	113.0	118.0					1																	155891282		2203	4300	6503	154157906	SO:0001583	missense	22889			BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1150G>A	1.37:g.155891282C>T	ENSP00000357304:p.Val384Met	Somatic		Capture	Illumina HiSeq	Phase_I	154157906	O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	CCDS30885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.63|18.63	3.666324|3.666324	0.67814|0.67814	.|.	.|.	ENSG00000132680|ENSG00000132680	ENST00000368319|ENST00000368321;ENST00000368320	.|.	.|.	.|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.288814	.|0.34484	.|N	.|0.003921	T|T	0.34513|0.34513	0.0900|0.0900	N|N	0.14661|0.14661	0.345|0.345	0.27709|0.27709	N|N	0.945526|0.945526	P|D;D	0.36144|0.65815	0.539|0.995;0.985	B|D;D	0.35353|0.63877	0.201|0.919;0.919	T|T	0.29852|0.29852	-0.9998|-0.9998	8|9	0.19590|0.37606	T|T	0.45|0.19	-9.3521|-9.3521	18.9299|18.9299	0.92561|0.92561	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	350|384;384	Q7Z7F0-3|Q7Z7F0-2;Q7Z7F0	.|.;K0907_HUMAN	N|M	350|384	.|.	ENSP00000357302:S350N|ENSP00000357303:V384M	S|V	-|-	2|1	0|0	KIAA0907|KIAA0907	154157906|154157906	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	2.614000|2.614000	0.46359|0.46359	2.556000|2.556000	0.86216|0.86216	0.491000|0.491000	0.48974|0.48974	AGT|GTG		KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949	
ILDR2	387597	hgsc.bcm.edu	37	1	166890006	166890006	+	Missense_Mutation	SNP	G	G	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr1:166890006G>C	ENST00000271417.3	-	9	1877	c.1822C>G	c.(1822-1824)Cgc>Ggc	p.R608G	ILDR2_ENST00000526687.1_Missense_Mutation_p.R500G|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000525740.1_Missense_Mutation_p.R481G|ILDR2_ENST00000469934.2_Intron|ILDR2_ENST00000528703.1_Missense_Mutation_p.R549G|ILDR2_ENST00000529071.1_Missense_Mutation_p.R589G	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	608					cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GGCAGGTCGCGGCCGCGGTAG	0.682																																																	0			1											6.0	8.0	8.0					1																	166890006		2079	4110	6189	165156630	SO:0001583	missense	387597			AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"""LISCH-like"""		"""chromosome 1 open reading frame 32"""	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.1822C>G	1.37:g.166890006G>C	ENSP00000271417:p.Arg608Gly	Somatic		Capture	Illumina HiSeq	Phase_I	165156630		Missense_Mutation	SNP	ENST00000271417.3	37	CCDS1256.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502754	0.44558	.	.	ENSG00000143195	ENST00000271417;ENST00000525740;ENST00000529071;ENST00000526687;ENST00000528703	T;T;T;T;T	0.78816	0.42;-1.21;0.41;-1.21;-0.21	4.76	3.84	0.44239	.	1.259550	0.05306	N	0.523995	T	0.80763	0.4685	M	0.61703	1.905	0.35815	D	0.824187	D	0.71674	0.998	D	0.76071	0.987	T	0.62248	-0.6894	9	0.87932	D	0	.	8.2155	0.31509	0.0:0.131:0.4904:0.3786	.	608	Q71H61	ILDR2_HUMAN	G	608;481;589;500;549	ENSP00000271417:R608G;ENSP00000436120:R481G;ENSP00000436882:R589G;ENSP00000434273:R500G;ENSP00000432750:R549G	ENSP00000271417:R608G	R	-	1	0	ILDR2	165156630	0.901000	0.30685	0.952000	0.39060	0.625000	0.37756	1.350000	0.34010	0.959000	0.37980	-0.314000	0.08810	CGC		ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351	
TROVE2	6738	hgsc.bcm.edu	37	1	193051701	193051701	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr1:193051701G>A	ENST00000367446.3	+	8	1537	c.1327G>A	c.(1327-1329)Ggt>Agt	p.G443S	TROVE2_ENST00000432079.1_Missense_Mutation_p.G168S|TROVE2_ENST00000367443.1_Missense_Mutation_p.G443S|TROVE2_ENST00000400968.2_Missense_Mutation_p.G443S|TROVE2_ENST00000367441.1_Missense_Mutation_p.G443S|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000367444.3_Missense_Mutation_p.G443S|TROVE2_ENST00000416058.2_Missense_Mutation_p.G168S|TROVE2_ENST00000367445.3_Missense_Mutation_p.G443S	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	443	VWFA-like domain. {ECO:0000250}.				cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						GATCCCAGCAGGTGGAACTGA	0.358																																																	0			1											74.0	67.0	69.0					1																	193051701		1845	4083	5928	191318324	SO:0001583	missense	6738			BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"""Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"""	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.1327G>A	1.37:g.193051701G>A	ENSP00000356416:p.Gly443Ser	Somatic		Capture	Illumina HiSeq	Phase_I	191318324	B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Missense_Mutation	SNP	ENST00000367446.3	37	CCDS1379.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.848123	0.91277	.	.	ENSG00000116747	ENST00000400968;ENST00000416058;ENST00000367446;ENST00000367443;ENST00000367445;ENST00000367444;ENST00000367441	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.80071	0.4556	M	0.74389	2.26	0.80722	D	1	D;D;D;D	0.89917	0.987;0.987;0.999;1.0	D;D;D;D	0.80764	0.96;0.96;0.983;0.994	T	0.80223	-0.1471	9	0.54805	T	0.06	-27.3745	19.7303	0.96180	0.0:0.0:1.0:0.0	.	443;443;443;443	Q5LJ99;Q5LJ98;Q5LJA0;P10155	.;.;.;RO60_HUMAN	S	443;168;443;443;443;443;443	.	ENSP00000356411:G443S	G	+	1	0	TROVE2	191318324	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	7.836000	0.86788	2.724000	0.93272	0.557000	0.71058	GGT		TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086688.1	NM_004600	
KCNT2	343450	hgsc.bcm.edu	37	1	196448323	196448323	+	Missense_Mutation	SNP	A	A	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr1:196448323A>T	ENST00000294725.9	-	5	1285	c.370T>A	c.(370-372)Tat>Aat	p.Y124N	KCNT2_ENST00000367431.4_Missense_Mutation_p.Y124N|KCNT2_ENST00000609185.1_Missense_Mutation_p.Y124N|KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000367433.5_Missense_Mutation_p.Y124N			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	124					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TAACTAAGATAACCAAGTAAT	0.294																																																	0			1											53.0	53.0	53.0					1																	196448323		2200	4299	6499	194714946	SO:0001583	missense	343450			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.370T>A	1.37:g.196448323A>T	ENSP00000294725:p.Tyr124Asn	Somatic		Capture	Illumina HiSeq	Phase_I	194714946	Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	A	16.61	3.172016	0.57584	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.21031	2.03;2.07;2.27	5.06	5.06	0.68205	.	0.000000	0.64402	D	0.000017	T	0.47229	0.1434	M	0.86178	2.8	0.80722	D	1	P;P;P;P	0.51537	0.91;0.946;0.886;0.91	P;P;P;P	0.61800	0.616;0.894;0.726;0.616	T	0.53279	-0.8461	10	0.72032	D	0.01	-10.1573	13.0716	0.59064	1.0:0.0:0.0:0.0	.	124;124;124;124	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	N	124	ENSP00000356403:Y124N;ENSP00000356401:Y124N;ENSP00000294725:Y124N	ENSP00000294725:Y124N	Y	-	1	0	KCNT2	194714946	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.182000	0.71995	2.251000	0.74343	0.482000	0.46254	TAT		KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503	
ATP6V1G3	127124	hgsc.bcm.edu	37	1	198509734	198509734	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr1:198509734T>C	ENST00000367382.1	-	1	131	c.47A>G	c.(46-48)aAa>aGa	p.K16R	ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.K16R|ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.K16R|ATP6V1G3_ENST00000309309.7_Missense_Mutation_p.K16R|ATP6V1G3_ENST00000367381.1_Missense_Mutation_p.K16R			Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	16					cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase binding (GO:0051117)|hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						CTTGGCCCGTTTTTCTGCCTG	0.493																																																	0			1											219.0	191.0	201.0					1																	198509734		2203	4300	6503	196776357	SO:0001583	missense	127124			AY039760	CCDS1395.1, CCDS1396.1	1q32.2	2010-04-21	2006-01-13		ENSG00000151418	ENSG00000151418		"""ATPases / V-type"""	18265	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 13kD, V1 subunit G isoform 3"", ""ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 3"""			9442887	Standard	NM_133262		Approved	ATP6G3, Vma10	uc001gup.3	Q96LB4	OTTHUMG00000035661	ENST00000367382.1:c.47A>G	1.37:g.198509734T>C	ENSP00000356352:p.Lys16Arg	Somatic		Capture	Illumina HiSeq	Phase_I	196776357	Q495K2|Q495K4|Q5T9L6	Missense_Mutation	SNP	ENST00000367382.1	37	CCDS1395.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.049133	0.75846	.	.	ENSG00000151418	ENST00000367382;ENST00000309309;ENST00000367381;ENST00000281087;ENST00000489986	T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75	5.94	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.67822	0.2934	M	0.80982	2.52	0.45634	D	0.998565	D;D;P	0.89917	1.0;1.0;0.873	D;D;P	0.91635	0.998;0.999;0.49	T	0.70722	-0.4794	10	0.87932	D	0	-37.6773	10.0726	0.42341	0.0:0.0789:0.0:0.9211	.	16;16;16	Q96LB4-4;Q96LB4;Q96LB4-3	.;VATG3_HUMAN;.	R	16	ENSP00000356352:K16R;ENSP00000309574:K16R;ENSP00000356351:K16R;ENSP00000281087:K16R;ENSP00000417171:K16R	ENSP00000281087:K16R	K	-	2	0	ATP6V1G3	196776357	1.000000	0.71417	0.998000	0.56505	0.844000	0.47949	3.732000	0.55021	1.081000	0.41110	0.397000	0.26171	AAA		ATP6V1G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086559.1	NM_133326	
DDX59	83479	hgsc.bcm.edu	37	1	200619724	200619724	+	Silent	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr1:200619724A>G	ENST00000331314.6	-	5	1356	c.1143T>C	c.(1141-1143)atT>atC	p.I381I	DDX59_ENST00000447706.2_Silent_p.I381I|DDX59_ENST00000367348.3_Silent_p.I381I	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	381	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						CTGAAACCAAAATGGTCTGAC	0.368																																																	0			1											99.0	91.0	93.0					1																	200619724		2203	4300	6503	198886347	SO:0001819	synonymous_variant	83479			BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"""Zinc fingers, HIT-type"", ""DEAD-boxes"""	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.1143T>C	1.37:g.200619724A>G		Somatic		Capture	Illumina HiSeq	Phase_I	198886347	Q6PJL2|Q8IVW3|Q9H0W3	Silent	SNP	ENST00000331314.6	37	CCDS30964.1																																																																																				DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	NM_001031725.4	
DISP1	84976	hgsc.bcm.edu	37	1	223179007	223179008	+	Missense_Mutation	DNP	GC	GC	AG			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G|C	G|C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr1:223179007_223179008GC>AG	ENST00000284476.6	+	8	4432_4433	c.4268_4269GC>AG	c.(4267-4269)aGC>aAG	p.S1423K		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1423					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)			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)		AGAGACGTGAGCAATCTGGAGA	0.475																																																	0			1																																								221245630|221245631	SO:0001583	missense	84976			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	Exception_encountered	1.37:g.223179007_223179008delinsAG	ENSP00000284476:p.Ser1423Lys	Somatic		Capture	Illumina HiSeq	Phase_I	221245630|221245631	Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	CCDS1536.1																																																																																				DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890	
TLR5	7100	hgsc.bcm.edu	37	1	223284971	223284971	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr1:223284971G>T	ENST00000540964.1	-	4	1864	c.1403C>A	c.(1402-1404)aCc>aAc	p.T468N	TLR5_ENST00000342210.6_Missense_Mutation_p.T468N			O60602	TLR5_HUMAN	toll-like receptor 5	468			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). {ECO:0000269|PubMed:14623910}.		cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CTCTGAAGGGGTTTGATCTCC	0.418																																																	0			1											81.0	84.0	83.0					1																	223284971		2203	4300	6503	221351594	SO:0001583	missense	7100				CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.1403C>A	1.37:g.223284971G>T	ENSP00000440643:p.Thr468Asn	Somatic		Capture	Illumina HiSeq	Phase_I	221351594	B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	ENST00000540964.1	37	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.533453	0.00951	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.24538	1.85;1.85;1.85	5.49	-1.32	0.09201	.	1.826510	0.02367	N	0.077472	T	0.10723	0.0262	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.14839	-1.0458	10	0.16420	T	0.52	.	1.3943	0.02257	0.1559:0.2995:0.2098:0.3348	.	468	O60602	TLR5_HUMAN	N	468	ENSP00000440643:T468N;ENSP00000355846:T468N;ENSP00000340089:T468N	ENSP00000340089:T468N	T	-	2	0	TLR5	221351594	0.000000	0.05858	0.001000	0.08648	0.029000	0.11900	0.109000	0.15417	0.018000	0.15052	-0.181000	0.13052	ACC		TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268	
LYST	1130	hgsc.bcm.edu	37	1	235938335	235938335	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr1:235938335T>C	ENST00000389794.3	-	18	5686	c.5512A>G	c.(5512-5514)Ata>Gta	p.I1838V	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.I1838V			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1838					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.I1838V(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)			AATGAGAGTATAACTCGCAGT	0.328																																																	1	Substitution - Missense(1)	breast(1)	1											107.0	106.0	107.0					1																	235938335		2202	4296	6498	234004958	SO:0001583	missense	1130			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.5512A>G	1.37:g.235938335T>C	ENSP00000374444:p.Ile1838Val	Somatic		Capture	Illumina HiSeq	Phase_I	234004958	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	T	11.80	1.746021	0.30955	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.61859	0.07;0.07	5.21	-0.0126	0.13988	.	0.501380	0.23230	N	0.050464	T	0.40015	0.1100	L	0.31294	0.92	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.14783	-1.0460	10	0.62326	D	0.03	.	7.4996	0.27509	0.0:0.0747:0.4246:0.5007	.	1838	Q99698	LYST_HUMAN	V	1838	ENSP00000374444:I1838V;ENSP00000374443:I1838V	ENSP00000374443:I1838V	I	-	1	0	LYST	234004958	1.000000	0.71417	0.478000	0.27316	0.966000	0.64601	2.262000	0.43285	-0.020000	0.14032	0.477000	0.44152	ATA		LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5		
EPS8L2	64787	hgsc.bcm.edu	37	11	720175	720175	+	Silent	SNP	G	G	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr11:720175G>C	ENST00000533256.1	+	6	654	c.279G>C	c.(277-279)ctG>ctC	p.L93L	AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000318562.8_Silent_p.L93L|EPS8L2_ENST00000530636.1_Silent_p.L93L|EPS8L2_ENST00000526198.1_Silent_p.L93L			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	93	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGAGATGCTGCTGCAGGTGA	0.632																																																	0			11											73.0	58.0	63.0					11																	720175		2203	4300	6503	710175	SO:0001819	synonymous_variant	64787			AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.279G>C	11.37:g.720175G>C		Somatic		Capture	Illumina HiSeq	Phase_I	710175	B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Silent	SNP	ENST00000533256.1	37	CCDS31328.1																																																																																				EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	NM_022772	
PIK3C2A	5286	hgsc.bcm.edu	37	11	17135987	17135987	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr11:17135987C>T	ENST00000265970.7	-	19	3241	c.3242G>A	c.(3241-3243)cGa>cAa	p.R1081Q	PIK3C2A_ENST00000531428.1_Intron|RNU6-593P_ENST00000364716.1_RNA|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.R701Q	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1081					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						GGACTGTACTCGTTCCATACT	0.333																																																	0			11											113.0	111.0	112.0					11																	17135987		2200	4293	6493	17092563	SO:0001583	missense	5286			Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.3242G>A	11.37:g.17135987C>T	ENSP00000265970:p.Arg1081Gln	Somatic		Capture	Illumina HiSeq	Phase_I	17092563	B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065366	0.76187	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.80566	-1.39;-1.39	4.97	4.97	0.65823	Protein kinase-like domain (1);	0.130066	0.53938	D	0.000055	T	0.82056	0.4954	L	0.47190	1.495	0.53005	D	0.999964	D	0.71674	0.998	P	0.52066	0.689	T	0.80630	-0.1297	10	0.30854	T	0.27	-7.6658	18.2258	0.89916	0.0:1.0:0.0:0.0	.	1081	O00443	P3C2A_HUMAN	Q	1081;701	ENSP00000265970:R1081Q;ENSP00000438687:R701Q	ENSP00000265970:R1081Q	R	-	2	0	PIK3C2A	17092563	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.188000	0.50958	2.309000	0.77851	0.460000	0.39030	CGA		PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645	
DCDC1	341019	hgsc.bcm.edu	37	11	31349698	31349698	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr11:31349698G>A	ENST00000452803.1	-	3	331	c.130C>T	c.(130-132)Cca>Tca	p.P44S	DCDC1_ENST00000597505.1_Missense_Mutation_p.P44S	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1	44					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TTGTAAATTGGGTTTACAGTA	0.353																																																	0			11											75.0	74.0	74.0					11																	31349698		2202	4299	6501	31306274	SO:0001583	missense	341019			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000452803.1:c.130C>T	11.37:g.31349698G>A	ENSP00000389792:p.Pro44Ser	Somatic		Capture	Illumina HiSeq	Phase_I	31306274	A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000452803.1	37	CCDS7872.1	.	.	.	.	.	.	.	.	.	.	G	9.935	1.215779	0.22373	.	.	ENSG00000188682	ENST00000452803	T	0.27890	1.64	4.93	-0.691	0.11305	.	0.899079	0.09338	N	0.815946	T	0.13030	0.0316	N	0.12182	0.205	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.28713	-1.0035	10	0.28530	T	0.3	.	0.8829	0.01238	0.2783:0.16:0.3975:0.1642	.	44	P59894	DCDC1_HUMAN	S	44	ENSP00000389792:P44S	ENSP00000343496:P44S	P	-	1	0	DCDC1	31306274	0.001000	0.12720	0.000000	0.03702	0.256000	0.26092	0.118000	0.15605	0.059000	0.16252	-0.266000	0.10368	CCA		DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316531.1	NM_181807	
MADD	8567	hgsc.bcm.edu	37	11	47306652	47306652	+	Missense_Mutation	SNP	T	T	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr11:47306652T>G	ENST00000311027.5	+	13	2483	c.2318T>G	c.(2317-2319)tTc>tGc	p.F773C	MADD_ENST00000349238.3_Missense_Mutation_p.F773C|MADD_ENST00000407859.3_Intron|MADD_ENST00000395336.3_Missense_Mutation_p.F773C|MADD_ENST00000395344.3_Intron|MADD_ENST00000406482.1_Intron|MADD_ENST00000342922.4_Missense_Mutation_p.F773C|MADD_ENST00000402192.2_Missense_Mutation_p.F773C|MADD_ENST00000402799.1_Intron	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											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)		AATCCATACTTCGAGCCCCAA	0.547																																																	0			11											86.0	82.0	84.0					11																	47306652		2201	4298	6499	47263228	SO:0001583	missense	8567			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.2318T>G	11.37:g.47306652T>G	ENSP00000310933:p.Phe773Cys	Somatic		Capture	Illumina HiSeq	Phase_I	47263228		Missense_Mutation	SNP	ENST00000311027.5	37	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.211788	0.79240	.	.	ENSG00000110514	ENST00000342922;ENST00000349238;ENST00000311027;ENST00000395336;ENST00000402192	T;T;T;T;T	0.08634	3.07;3.08;3.1;3.1;3.08	6.17	3.9	0.45041	.	0.149324	0.64402	D	0.000008	T	0.12732	0.0309	L	0.32530	0.975	0.80722	D	1	P;P;P;P	0.51351	0.708;0.816;0.584;0.944	P;P;P;P	0.54210	0.736;0.678;0.479;0.745	T	0.01405	-1.1363	10	0.66056	D	0.02	-4.3537	10.2789	0.43528	0.0:0.1312:0.0:0.8688	.	773;773;773;773	Q8WXG6-7;Q8WXG6-2;Q8WXG6;Q8WXG6-3	.;.;MADD_HUMAN;.	C	773	ENSP00000343902:F773C;ENSP00000304505:F773C;ENSP00000310933:F773C;ENSP00000378745:F773C;ENSP00000384287:F773C	ENSP00000310933:F773C	F	+	2	0	MADD	47263228	1.000000	0.71417	0.976000	0.42696	0.997000	0.91878	3.251000	0.51453	0.586000	0.29626	0.533000	0.62120	TTC		MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1		
OR5A1	219982	hgsc.bcm.edu	37	11	59211352	59211352	+	Silent	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr11:59211352A>G	ENST00000302030.2	+	1	736	c.711A>G	c.(709-711)cgA>cgG	p.R237R		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CAGAGGGCCGATGGAAAGCCT	0.547																																																	0			11											266.0	220.0	236.0					11																	59211352		2201	4295	6496	58967928	SO:0001819	synonymous_variant	219982			AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.711A>G	11.37:g.59211352A>G		Somatic		Capture	Illumina HiSeq	Phase_I	58967928	B9EH58|Q6IFF2|Q96RB1	Silent	SNP	ENST00000302030.2	37	CCDS31561.1																																																																																				OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728	
OR4D10	390197	hgsc.bcm.edu	37	11	59245207	59245207	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr11:59245207T>C	ENST00000530162.1	+	1	362	c.305T>C	c.(304-306)tTt>tCt	p.F102S		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACTCAGATGTTTCTATTCCAC	0.473																																																	0			11											94.0	95.0	95.0					11																	59245207		2103	4240	6343	59001783	SO:0001583	missense	390197			AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"""GPCR / Class A : Olfactory receptors"""	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.305T>C	11.37:g.59245207T>C	ENSP00000436424:p.Phe102Ser	Somatic		Capture	Illumina HiSeq	Phase_I	59001783	B2RNH6	Missense_Mutation	SNP	ENST00000530162.1	37	CCDS53636.1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.451676	0.43531	.	.	ENSG00000254466	ENST00000530162	T	0.00397	7.57	4.4	4.4	0.53042	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00875	0.0029	M	0.79805	2.47	0.38104	D	0.937369	D	0.89917	1.0	D	0.97110	1.0	T	0.64892	-0.6300	9	0.87932	D	0	.	8.3873	0.32508	0.1751:0.0:0.0:0.8249	.	102	Q8NGI6	OR4DA_HUMAN	S	102	ENSP00000436424:F102S	ENSP00000436424:F102S	F	+	2	0	OR4D10	59001783	0.622000	0.27085	0.997000	0.53966	0.153000	0.21895	0.973000	0.29422	1.733000	0.51620	0.533000	0.62120	TTT		OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394235.1	NM_001004705	
MEN1	4221	hgsc.bcm.edu	37	11	64571983	64571983	+	Silent	SNP	A	A	G	rs143423552		TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr11:64571983A>G	ENST00000337652.1	-	10	2174	c.1671T>C	c.(1669-1671)acT>acC	p.T557T	MEN1_ENST00000443283.1_Silent_p.T557T|MEN1_ENST00000377313.1_Silent_p.T557T|MAP4K2_ENST00000294066.2_5'Flank|MEN1_ENST00000312049.6_Silent_p.T552T|MEN1_ENST00000394376.1_Silent_p.T557T|MEN1_ENST00000377321.1_Silent_p.T517T|MEN1_ENST00000478548.1_5'UTR|MAP4K2_ENST00000377350.3_5'Flank|MAP4K2_ENST00000468062.1_5'Flank|MEN1_ENST00000315422.4_Silent_p.T552T|MEN1_ENST00000377326.3_Silent_p.T552T|MEN1_ENST00000394374.2_Silent_p.T557T|MEN1_ENST00000377316.2_Silent_p.T497T	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	557			T -> S (in adrenal adenoma; somatic). {ECO:0000269|PubMed:10647896}.		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)			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						CACTCTGGAAAGTGAGCACTG	0.622			"""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				A|||	1	0.000199681	0.0	0.0	5008	,	,		15155	0.0		0.001	False		,,,				2504	0.0				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	0			11						A	,,,,,,	0,4402		0,0,2201	133.0	114.0	120.0		1671,1656,1671,1671,1671,1671,1671	-1.6	1.0	11	dbSNP_134	120	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MEN1	NM_000244.3,NM_130799.2,NM_130800.2,NM_130801.2,NM_130802.2,NM_130803.2,NM_130804.2	,,,,,,	0,1,6497	GG,GA,AA		0.0116,0.0,0.0077	,,,,,,	557/616,552/611,557/616,557/616,557/616,557/616,557/616	64571983	1,12995	2201	4297	6498	64328559	SO:0001819	synonymous_variant	4221	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.1671T>C	11.37:g.64571983A>G		Somatic		Capture	Illumina HiSeq	Phase_I	64328559	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	ENST00000337652.1	37	CCDS8083.1																																																																																				MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1		
ADRBK1	156	hgsc.bcm.edu	37	11	67052395	67052395	+	Silent	SNP	C	C	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr11:67052395C>A	ENST00000308595.5	+	19	2022	c.1732C>A	c.(1732-1734)Cgg>Agg	p.R578R	ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	578	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.		R -> Q (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CCAGTGGCAGCGGCGGTACTT	0.672																																																	0			11											74.0	54.0	61.0					11																	67052395		2198	4295	6493	66808971	SO:0001819	synonymous_variant	156			X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.1732C>A	11.37:g.67052395C>A		Somatic		Capture	Illumina HiSeq	Phase_I	66808971	B0ZBE1|Q13837|Q6GTT3	Silent	SNP	ENST00000308595.5	37	CCDS8156.1																																																																																				ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	NM_001619	
CNTN5	53942	hgsc.bcm.edu	37	11	99944920	99944920	+	Missense_Mutation	SNP	A	A	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr11:99944920A>T	ENST00000524871.1	+	13	1764	c.1474A>T	c.(1474-1476)Att>Ttt	p.I492F	CNTN5_ENST00000528682.1_Missense_Mutation_p.I492F|CNTN5_ENST00000279463.3_Missense_Mutation_p.I492F|CNTN5_ENST00000527185.1_Missense_Mutation_p.I492F|CNTN5_ENST00000418526.2_Missense_Mutation_p.I418F	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	492	Ig-like C2-type 5.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GAAAACAATAATTGTTACCAA	0.378																																																	0			11											60.0	59.0	59.0					11																	99944920		1845	4093	5938	99450130	SO:0001583	missense	53942			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.1474A>T	11.37:g.99944920A>T	ENSP00000435637:p.Ile492Phe	Somatic		Capture	Illumina HiSeq	Phase_I	99450130	A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	A	18.17	3.564701	0.65651	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24	5.51	3.23	0.37069	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.149457	0.64402	D	0.000017	T	0.68302	0.2986	L	0.46885	1.475	0.51012	D	0.999904	P;P;P	0.50272	0.933;0.745;0.933	P;P;P	0.58077	0.832;0.558;0.832	T	0.66563	-0.5892	10	0.41790	T	0.15	.	7.8353	0.29365	0.7926:0.0:0.2074:0.0	.	492;418;492	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	F	492;492;492;418;492	ENSP00000433575:I492F;ENSP00000436185:I492F;ENSP00000435637:I492F;ENSP00000393229:I418F;ENSP00000279463:I492F	ENSP00000279463:I492F	I	+	1	0	CNTN5	99450130	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	4.838000	0.62803	2.095000	0.63458	0.456000	0.33151	ATT		CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361	
MMP8	4317	hgsc.bcm.edu	37	11	102593394	102593394	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr11:102593394T>C	ENST00000236826.3	-	2	211	c.113A>G	c.(112-114)gAa>gGa	p.E38G		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	38					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	GTAGAACTTTTCCAGGTAGTC	0.428																																																	0			11											86.0	84.0	85.0					11																	102593394		2203	4298	6501	102098604	SO:0001583	missense	4317			J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"""matrix metalloproteinase 8 (neutrophil collagenase)"""	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.113A>G	11.37:g.102593394T>C	ENSP00000236826:p.Glu38Gly	Somatic		Capture	Illumina HiSeq	Phase_I	102098604	Q45F99	Missense_Mutation	SNP	ENST00000236826.3	37	CCDS8320.1	.	.	.	.	.	.	.	.	.	.	T	14.53	2.562778	0.45694	.	.	ENSG00000118113	ENST00000236826;ENST00000544383	T	0.37058	1.22	5.99	4.87	0.63330	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.547984	0.17776	N	0.162437	T	0.42177	0.1191	M	0.66378	2.025	0.09310	N	1	B;B	0.21309	0.054;0.022	B;B	0.32762	0.152;0.104	T	0.42865	-0.9426	10	0.62326	D	0.03	.	11.3	0.49300	0.0:0.0715:0.0:0.9285	.	38;38	A8K9E4;P22894	.;MMP8_HUMAN	G	38;15	ENSP00000236826:E38G	ENSP00000236826:E38G	E	-	2	0	MMP8	102098604	0.088000	0.21588	0.079000	0.20413	0.986000	0.74619	2.837000	0.48191	1.102000	0.41551	0.533000	0.62120	GAA		MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424	
MMP13	4322	hgsc.bcm.edu	37	11	102826346	102826346	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr11:102826346T>C	ENST00000260302.3	-	1	117	c.89A>G	c.(88-90)gAt>gGt	p.D30G	MMP13_ENST00000340273.4_Missense_Mutation_p.D30G	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	30					bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	CTCAGACAAATCATCTTCATC	0.502																																																	0			11											113.0	101.0	105.0					11																	102826346		2202	4299	6501	102331556	SO:0001583	missense	4322			X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.89A>G	11.37:g.102826346T>C	ENSP00000260302:p.Asp30Gly	Somatic		Capture	Illumina HiSeq	Phase_I	102331556	A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	T	8.414	0.844909	0.16963	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.36520	1.25;1.25	5.62	4.49	0.54785	Metallopeptidase, catalytic domain (1);	0.422167	0.28742	N	0.014293	T	0.18759	0.0450	N	0.08118	0	0.24237	N	0.995371	B	0.31026	0.304	B	0.26693	0.072	T	0.11817	-1.0572	10	0.33141	T	0.24	.	11.8916	0.52633	0.0:0.0686:0.0:0.9314	.	30	P45452	MMP13_HUMAN	G	30	ENSP00000260302:D30G;ENSP00000339672:D30G	ENSP00000260302:D30G	D	-	2	0	MMP13	102331556	0.671000	0.27521	0.040000	0.18447	0.120000	0.20174	3.454000	0.52986	1.052000	0.40392	0.533000	0.62120	GAT		MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427	
CASP5	838	hgsc.bcm.edu	37	11	104871023	104871023	+	Missense_Mutation	SNP	T	T	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr11:104871023T>A	ENST00000260315.3	-	6	916	c.917A>T	c.(916-918)aAa>aTa	p.K306I	CASP5_ENST00000444749.2_Missense_Mutation_p.K248I|CASP5_ENST00000393141.2_Missense_Mutation_p.K319I|CASP5_ENST00000418434.1_Missense_Mutation_p.K164I|CASP5_ENST00000526056.1_Missense_Mutation_p.K319I|CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000531367.1_Missense_Mutation_p.K164I			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	306					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GACCTTGGGTTTGTCCTTTAG	0.458																																																	0			11											200.0	173.0	182.0					11																	104871023		2202	4299	6501	104376233	SO:0001583	missense	838				CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.917A>T	11.37:g.104871023T>A	ENSP00000260315:p.Lys306Ile	Somatic		Capture	Illumina HiSeq	Phase_I	104376233	B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Missense_Mutation	SNP	ENST00000260315.3	37	CCDS8328.2	.	.	.	.	.	.	.	.	.	.	.	20.6	4.016701	0.75161	.	.	ENSG00000137757	ENST00000393141;ENST00000418434;ENST00000260315;ENST00000444749;ENST00000526056;ENST00000531367	T;T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75;2.75	4.34	4.34	0.51931	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	0.000000	0.85682	D	0.000000	T	0.47488	0.1448	H	0.97896	4.1	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;1.0;1.0	T	0.65207	-0.6224	10	0.87932	D	0	.	11.772	0.51965	0.0:0.0:0.0:1.0	.	164;248;306;319	P51878-3;P51878-2;P51878;P51878-5	.;.;CASP5_HUMAN;.	I	319;164;306;248;319;164	ENSP00000376849:K319I;ENSP00000398130:K164I;ENSP00000260315:K306I;ENSP00000388365:K248I;ENSP00000436877:K319I;ENSP00000434471:K164I	ENSP00000260315:K306I	K	-	2	0	CASP5	104376233	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	6.378000	0.73150	1.736000	0.51660	0.334000	0.21626	AAA		CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	NM_004347	
CBL	867	hgsc.bcm.edu	37	11	119144733	119144733	+	Splice_Site	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr11:119144733A>G	ENST00000264033.4	+	4	1122	c.746A>G	c.(745-747)cAg>cGg	p.Q249R		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	249	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|SH2-like.|Sufficient for interaction with EPHB1.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CGACTCTTTCAGGTAGGACAC	0.368			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																															"""Dom, Rec"""	yes		11	11q23.3	867	Cas-Br-M (murine) ecotropic retroviral transforming		L	0			11											84.0	86.0	86.0					11																	119144733		2199	4295	6494	118649943	SO:0001630	splice_region_variant	867	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.747+1A>G	11.37:g.119144733A>G		Somatic		Capture	Illumina HiSeq	Phase_I	118649943	A3KMP8	Missense_Mutation	SNP	ENST00000264033.4	37	CCDS8418.1	.	.	.	.	.	.	.	.	.	.	A	18.86	3.712679	0.68730	.	.	ENSG00000110395	ENST00000264033	T	0.80566	-1.39	5.48	5.48	0.80851	Adaptor protein Cbl, PTB domain (1);EF-hand-like domain (1);Adaptor protein Cbl, EF hand-like (1);	0.000000	0.85682	D	0.000000	D	0.89546	0.6746	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90701	0.4620	10	0.66056	D	0.02	-32.8161	15.5788	0.76414	1.0:0.0:0.0:0.0	.	249	P22681	CBL_HUMAN	R	249	ENSP00000264033:Q249R	ENSP00000264033:Q249R	Q	+	2	0	CBL	118649943	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.324000	0.96373	2.096000	0.63516	0.402000	0.26972	CAG		CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188	Missense_Mutation
CBL	867	hgsc.bcm.edu	37	11	119148923	119148923	+	Silent	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr11:119148923T>C	ENST00000264033.4	+	8	1519	c.1143T>C	c.(1141-1143)tgT>tgC	p.C381C		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	381	Asp/Glu-rich (acidic).				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E366_Q409del(13)|p.E369_Q409del(1)|p.E369_D390del(1)|p.?(1)|p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TCCAACTATGTAAAATATGTG	0.348			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																															"""Dom, Rec"""	yes		11	11q23.3	867	Cas-Br-M (murine) ecotropic retroviral transforming		L	17	Deletion - In frame(16)|Unknown(1)	haematopoietic_and_lymphoid_tissue(17)	11											88.0	83.0	84.0					11																	119148923		2199	4295	6494	118654133	SO:0001819	synonymous_variant	867	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.1143T>C	11.37:g.119148923T>C		Somatic		Capture	Illumina HiSeq	Phase_I	118654133	A3KMP8	Silent	SNP	ENST00000264033.4	37	CCDS8418.1																																																																																				CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188	
TECTA	7007	hgsc.bcm.edu	37	11	120989281	120989281	+	Missense_Mutation	SNP	T	T	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr11:120989281T>G	ENST00000392793.1	+	7	1328	c.1057T>G	c.(1057-1059)Ttg>Gtg	p.L353V	TECTA_ENST00000264037.2_Missense_Mutation_p.L353V			O75443	TECTA_HUMAN	tectorin alpha	353	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				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)			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)		CCGACAGTGTTTGCAGACTTC	0.562																																																	0			11											133.0	120.0	124.0					11																	120989281		2203	4299	6502	120494491	SO:0001583	missense	7007			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.1057T>G	11.37:g.120989281T>G	ENSP00000376543:p.Leu353Val	Somatic		Capture	Illumina HiSeq	Phase_I	120494491		Missense_Mutation	SNP	ENST00000392793.1	37	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	T	9.313	1.056109	0.19907	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.60040	0.22;0.22	5.72	-4.79	0.03200	von Willebrand factor, type D domain (3);	0.151991	0.45361	N	0.000370	T	0.30070	0.0753	N	0.17564	0.495	0.24446	N	0.994505	B	0.06786	0.001	B	0.06405	0.002	T	0.26985	-1.0087	10	0.13853	T	0.58	.	9.3696	0.38246	0.0:0.4444:0.1076:0.448	.	353	O75443	TECTA_HUMAN	V	353	ENSP00000376543:L353V;ENSP00000264037:L353V	ENSP00000264037:L353V	L	+	1	2	TECTA	120494491	1.000000	0.71417	0.518000	0.27811	0.991000	0.79684	0.860000	0.27871	-0.678000	0.05224	-0.376000	0.06991	TTG		TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422	
OR6M1	390261	hgsc.bcm.edu	37	11	123676949	123676949	+	Missense_Mutation	SNP	C	C	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr11:123676949C>G	ENST00000309154.2	-	1	146	c.109G>C	c.(109-111)Gca>Cca	p.A37P		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		TTTCCTGTTGCTGTTAATGTG	0.433																																																	0			11											142.0	122.0	129.0					11																	123676949		2202	4299	6501	123182159	SO:0001583	missense	390261			AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"""GPCR / Class A : Olfactory receptors"""	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.109G>C	11.37:g.123676949C>G	ENSP00000311038:p.Ala37Pro	Somatic		Capture	Illumina HiSeq	Phase_I	123182159	B2RNK0|Q6IEW9|Q96R37	Missense_Mutation	SNP	ENST00000309154.2	37	CCDS31696.1	.	.	.	.	.	.	.	.	.	.	C	2.300	-0.360355	0.05103	.	.	ENSG00000196099	ENST00000309154	T	0.00441	7.41	3.69	0.407	0.16371	.	1.143100	0.06913	U	0.808030	T	0.00271	0.0008	N	0.19112	0.55	0.09310	N	1	B	0.26744	0.158	B	0.26094	0.066	T	0.38023	-0.9680	10	0.87932	D	0	.	3.9925	0.09543	0.0:0.364:0.3893:0.2467	.	37	Q8NGM8	OR6M1_HUMAN	P	37	ENSP00000311038:A37P	ENSP00000311038:A37P	A	-	1	0	OR6M1	123182159	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-6.558000	0.00061	0.236000	0.21180	-0.953000	0.02652	GCA		OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387437.1	NM_001005325	
ETS1	2113	hgsc.bcm.edu	37	11	128360420	128360420	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr11:128360420A>G	ENST00000319397.6	-	2	443	c.134T>C	c.(133-135)aTg>aCg	p.M45T	ETS1_ENST00000531611.1_Missense_Mutation_p.M45T|ETS1_ENST00000345075.4_Missense_Mutation_p.M45T|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000526145.2_Missense_Mutation_p.M45T|ETS1_ENST00000392668.4_Missense_Mutation_p.M89T	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	45					angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		TGCTTGAGACATCATTTCTTT	0.363																																																	0			11											135.0	127.0	130.0					11																	128360420		2201	4297	6498	127865630	SO:0001583	missense	2113				CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000319397.6:c.134T>C	11.37:g.128360420A>G	ENSP00000324578:p.Met45Thr	Somatic		Capture	Illumina HiSeq	Phase_I	127865630	A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Missense_Mutation	SNP	ENST00000319397.6	37	CCDS8475.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.086712	0.76642	.	.	ENSG00000134954	ENST00000345075;ENST00000392668;ENST00000531611;ENST00000319397;ENST00000526145	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	5.65	5.65	0.86999	Sterile alpha motif/pointed domain (1);	0.000000	0.85682	D	0.000000	T	0.54711	0.1875	M	0.67397	2.05	0.80722	D	1	P;P;D	0.57257	0.867;0.915;0.979	D;D;D	0.74348	0.982;0.935;0.983	T	0.57877	-0.7735	10	0.87932	D	0	.	15.8653	0.79060	1.0:0.0:0.0:0.0	.	45;45;89	P14921;Q96AC5;Q6N087	ETS1_HUMAN;.;.	T	45;89;45;45;45	ENSP00000340485:M45T;ENSP00000376436:M89T;ENSP00000435666:M45T;ENSP00000324578:M45T;ENSP00000433500:M45T	ENSP00000324578:M45T	M	-	2	0	ETS1	127865630	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.149000	0.67028	0.460000	0.39030	ATG		ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386269.2	NM_005238	
NTM	50863	hgsc.bcm.edu	37	11	132016193	132016193	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr11:132016193G>A	ENST00000374786.1	+	2	664	c.185G>A	c.(184-186)cGg>cAg	p.R62Q	NTM_ENST00000374784.1_Missense_Mutation_p.R62Q|NTM_ENST00000427481.2_Missense_Mutation_p.R53Q|NTM_ENST00000374791.3_Missense_Mutation_p.R62Q|NTM_ENST00000539799.1_Missense_Mutation_p.R62Q|NTM_ENST00000425719.2_Missense_Mutation_p.R62Q	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	62	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						ATTGACAACCGGGTCACCCGG	0.577																																																	0			11											115.0	93.0	100.0					11																	132016193		2201	4297	6498	131521403	SO:0001583	missense	50863			AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.185G>A	11.37:g.132016193G>A	ENSP00000363918:p.Arg62Gln	Somatic		Capture	Illumina HiSeq	Phase_I	131521403	A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245003	0.59103	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.69	5.69	0.88448	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.054148	0.64402	D	0.000001	T	0.63988	0.2558	L	0.34521	1.04	0.44890	D	0.9979	P;P;P;B;B;B	0.47253	0.892;0.504;0.763;0.335;0.287;0.357	P;B;B;B;B;B	0.45610	0.487;0.283;0.355;0.174;0.067;0.186	T	0.62081	-0.6929	10	0.35671	T	0.21	-18.7026	19.819	0.96583	0.0:0.0:1.0:0.0	.	62;53;62;62;62;62	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	Q	62;62;53;53;62;62;62	ENSP00000363923:R62Q;ENSP00000437668:R62Q;ENSP00000448104:R53Q;ENSP00000416320:R53Q;ENSP00000363918:R62Q;ENSP00000396722:R62Q;ENSP00000363916:R62Q	ENSP00000363916:R62Q	R	+	2	0	NTM	131521403	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.266000	0.72540	2.691000	0.91804	0.655000	0.94253	CGG		NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522	
BTN1A1	696	hgsc.bcm.edu	37	6	26509025	26509025	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr6:26509025G>T	ENST00000244513.6	+	7	1270	c.1204G>T	c.(1204-1206)Ggg>Tgg	p.G402W		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	402	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						GTATGGAAATGGGTACTGGGC	0.542																																																	0			6											109.0	104.0	106.0					6																	26509025		2203	4300	6503	26617004	SO:0001583	missense	696			U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.1204G>T	6.37:g.26509025G>T	ENSP00000244513:p.Gly402Trp	Somatic		Capture	Illumina HiSeq	Phase_I	26617004	Q4VAN3|Q4VAN4|Q9H458	Missense_Mutation	SNP	ENST00000244513.6	37	CCDS4614.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.498137	0.64186	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	T	0.70986	-0.53	5.91	5.04	0.67666	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.200439	0.35970	N	0.002876	T	0.69061	0.3069	L	0.45352	1.415	0.36627	D	0.876102	D	0.71674	0.998	D	0.72075	0.976	T	0.75448	-0.3314	10	0.72032	D	0.01	.	8.9869	0.35999	0.1665:0.0:0.8335:0.0	.	402	Q13410	BT1A1_HUMAN	W	402	ENSP00000244513:G402W	ENSP00000244513:G402W	G	+	1	0	BTN1A1	26617004	0.000000	0.05858	0.976000	0.42696	0.992000	0.81027	-0.022000	0.12480	1.500000	0.48636	0.655000	0.94253	GGG		BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	NM_001732	
ZKSCAN3	80317	hgsc.bcm.edu	37	6	28327608	28327608	+	Missense_Mutation	SNP	A	A	C	rs537641620	byFrequency	TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr6:28327608A>C	ENST00000377255.3	+	3	542	c.245A>C	c.(244-246)aAg>aCg	p.K82T	ZKSCAN3_ENST00000341464.5_Intron|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.K82T	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	82	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						ATGCACAGCAAGGAGCAGATC	0.667																																																	0			6											35.0	39.0	37.0					6																	28327608		2203	4295	6498	28435587	SO:0001583	missense	80317			U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13853	protein-coding gene	gene with protein product		612791	"""zinc finger protein 306"", ""zinc finger protein 309"""	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.245A>C	6.37:g.28327608A>C	ENSP00000366465:p.Lys82Thr	Somatic		Capture	Illumina HiSeq	Phase_I	28435587	B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Missense_Mutation	SNP	ENST00000377255.3	37	CCDS4650.1	.	.	.	.	.	.	.	.	.	.	.	17.98	3.520085	0.64747	.	.	ENSG00000189298	ENST00000252211;ENST00000454413;ENST00000377255	T;T	0.08458	3.09;3.09	3.71	3.71	0.42584	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.28333	0.0700	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.31641	-0.9936	9	0.66056	D	0.02	.	10.276	0.43510	1.0:0.0:0.0:0.0	.	82	Q9BRR0	ZKSC3_HUMAN	T	82	ENSP00000252211:K82T;ENSP00000366465:K82T	ENSP00000252211:K82T	K	+	2	0	ZKSCAN3	28435587	0.985000	0.35326	1.000000	0.80357	0.988000	0.76386	2.942000	0.49018	1.684000	0.51022	0.377000	0.23210	AAG		ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3	NM_024493	
GABBR1	2550	hgsc.bcm.edu	37	6	29589555	29589555	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr6:29589555T>C	ENST00000377034.4	-	10	1440	c.1105A>G	c.(1105-1107)Act>Gct	p.T369A	GABBR1_ENST00000377012.4_Missense_Mutation_p.T252A|GABBR1_ENST00000377016.4_Missense_Mutation_p.T307A|GABBR1_ENST00000376977.3_Missense_Mutation_p.T369A|GABBR1_ENST00000355973.3_Missense_Mutation_p.T252A	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	369					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)			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)	CGGGCTTCAGTCTCATAGAAA	0.547																																																	0			6											62.0	66.0	64.0					6																	29589555		2203	4300	6503	29697534	SO:0001583	missense	10537			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.1105A>G	6.37:g.29589555T>C	ENSP00000366233:p.Thr369Ala	Somatic		Capture	Illumina HiSeq	Phase_I	29697534	B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	ENST00000377034.4	37	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	T	17.32	3.360990	0.61403	.	.	ENSG00000204681	ENST00000355973;ENST00000376977;ENST00000377016;ENST00000377012;ENST00000377034	T;T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75;-0.75	4.55	4.55	0.56014	Extracellular ligand-binding receptor (1);	0.105878	0.64402	D	0.000006	T	0.56426	0.1984	N	0.14661	0.345	0.53005	D	0.999969	B;D;D;D	0.56035	0.113;0.974;0.973;0.973	B;P;P;P	0.57101	0.07;0.778;0.813;0.813	T	0.57242	-0.7845	10	0.16896	T	0.51	-22.946	11.8871	0.52608	0.0:0.0:0.0:1.0	.	369;307;369;252	Q9UBS5-5;Q9UBS5-3;Q9UBS5;Q5SUJ9	.;.;GABR1_HUMAN;.	A	252;369;307;252;369	ENSP00000348248:T252A;ENSP00000366176:T369A;ENSP00000366215:T307A;ENSP00000366211:T252A;ENSP00000366233:T369A	ENSP00000348248:T252A	T	-	1	0	GABBR1	29697534	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	6.983000	0.76180	1.928000	0.55862	0.519000	0.50382	ACT		GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3		
NOTCH4	4855	hgsc.bcm.edu	37	6	32163799	32163799	+	Silent	SNP	T	T	C	rs8192579	byFrequency	TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr6:32163799T>C	ENST00000375023.3	-	30	5565	c.5427A>G	c.(5425-5427)caA>caG	p.Q1809Q	NOTCH4_ENST00000443903.2_Missense_Mutation_p.T186A|GPSM3_ENST00000375043.3_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1809					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGTGGTTACGTTGGTGAGCGA	0.716													T|||	422	0.0842652	0.0946	0.049	5008	,	,		14647	0.0556		0.0696	False		,,,				2504	0.1401																0			6						T		213,2587		10,193,1197	10.0	12.0	11.0		5427	2.7	1.0	6	dbSNP_117	11	283,4995		7,269,2363	no	coding-synonymous	NOTCH4	NM_004557.3		17,462,3560	CC,CT,TT		5.3619,7.6071,6.1401		1809/2004	32163799	496,7582	1400	2639	4039	32271777	SO:0001819	synonymous_variant	4855				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.5427A>G	6.37:g.32163799T>C		Somatic		Capture	Illumina HiSeq	Phase_I	32271777	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	37	CCDS34420.1	157	0.07188644688644688	49	0.09959349593495935	19	0.052486187845303865	33	0.057692307692307696	56	0.07387862796833773	T	11.85	1.761797	0.31228	0.076071	0.053619	ENSG00000204301	ENST00000443903	T	0.69435	-0.4	4.71	2.66	0.31614	.	.	.	.	.	T	0.37489	0.1005	.	.	.	0.50313	P	1.3799999999997148E-4	B	0.02656	0.0	B	0.01281	0.0	T	0.19257	-1.0311	7	0.66056	D	0.02	.	8.6674	0.34130	0.0:0.785:0.0:0.215	rs8192579;rs59212197;rs8192579	186	B4DFM3	.	A	186	ENSP00000398123:T186A	ENSP00000398123:T186A	T	-	1	0	NOTCH4	32271777	0.419000	0.25449	0.997000	0.53966	0.064000	0.16182	-0.336000	0.07863	0.539000	0.28788	-0.468000	0.05107	ACG		NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2		
DEFB112	245915	hgsc.bcm.edu	37	6	50016275	50016275	+	Silent	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr6:50016275T>C	ENST00000322246.4	-	1	89	c.90A>G	c.(88-90)cgA>cgG	p.R30R		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	30					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					CTGTCCCATGTCGGGCCTTTT	0.308																																																	0			6											135.0	129.0	131.0					6																	50016275		2203	4298	6501	50124234	SO:0001819	synonymous_variant	245915			DQ012016	CCDS34476.1	6p12.3	2010-03-30			ENSG00000180872	ENSG00000180872		"""Defensins, beta"""	18093	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037498		Approved	DEFB-12	uc011dws.2	Q30KQ8	OTTHUMG00000160215	ENST00000322246.4:c.90A>G	6.37:g.50016275T>C		Somatic		Capture	Illumina HiSeq	Phase_I	50124234	Q8NET0	Silent	SNP	ENST00000322246.4	37	CCDS34476.1																																																																																				DEFB112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359672.1	NM_001037498	
PKHD1	5314	hgsc.bcm.edu	37	6	51523858	51523858	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr6:51523858A>T	ENST00000371117.3	-	61	11341	c.11066T>A	c.(11065-11067)tTg>tAg	p.L3689*		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3689					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCGATGAGCCAAATTCTGTAA	0.398																																																	0			6											162.0	153.0	156.0					6																	51523858		2203	4300	6503	51631817	SO:0001587	stop_gained	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11066T>A	6.37:g.51523858A>T	ENSP00000360158:p.Leu3689*	Somatic		Capture	Illumina HiSeq	Phase_I	51631817	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Nonsense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	A	53	21.024046	0.99936	.	.	ENSG00000170927	ENST00000371117	.	.	.	5.91	5.91	0.95273	.	0.487586	0.19483	N	0.113162	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5264	0.75910	1.0:0.0:0.0:0.0	.	.	.	.	X	3689	.	ENSP00000360158:L3689X	L	-	2	0	PKHD1	51631817	0.998000	0.40836	0.972000	0.41901	0.659000	0.38960	6.186000	0.72026	2.261000	0.74972	0.533000	0.62120	TTG		PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
TINAG	27283	hgsc.bcm.edu	37	6	54212312	54212312	+	Missense_Mutation	SNP	G	G	A	rs201629982		TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr6:54212312G>A	ENST00000259782.4	+	6	992	c.896G>A	c.(895-897)cGt>cAt	p.R299H		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	299					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CTGAGAAAACGTGGGTAAATA	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		15424	0.0		0.001	False		,,,				2504	0.0																0			6											85.0	75.0	79.0					6																	54212312		2203	4300	6503	54320271	SO:0001583	missense	27283			AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.896G>A	6.37:g.54212312G>A	ENSP00000259782:p.Arg299His	Somatic		Capture	Illumina HiSeq	Phase_I	54320271	Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	ENST00000259782.4	37	CCDS4955.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	15.78	2.933656	0.52866	.	.	ENSG00000137251	ENST00000259782	D	0.83591	-1.74	5.77	5.77	0.91146	Peptidase C1A, papain C-terminal (2);	0.168599	0.43919	D	0.000514	T	0.54759	0.1878	N	0.11698	0.16	0.80722	D	1	B	0.26081	0.141	B	0.26517	0.07	T	0.55866	-0.8073	10	0.17369	T	0.5	.	12.8911	0.58071	0.0784:0.0:0.9216:0.0	.	299	Q9UJW2	TINAG_HUMAN	H	299	ENSP00000259782:R299H	ENSP00000259782:R299H	R	+	2	0	TINAG	54320271	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.670000	0.54569	2.728000	0.93425	0.591000	0.81541	CGT		TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464	
COL12A1	1303	hgsc.bcm.edu	37	6	75884983	75884983	+	Silent	SNP	C	C	T	rs35170847	byFrequency	TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr6:75884983C>T	ENST00000322507.8	-	13	2790	c.2481G>A	c.(2479-2481)acG>acA	p.T827T	COL12A1_ENST00000483888.2_Silent_p.T827T|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Silent_p.T827T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	827	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TCATAGTAGACGTCGTAGGGT	0.398													C|||	38	0.00758786	0.028	0.0014	5008	,	,		19448	0.0		0.0	False		,,,				2504	0.0																0			6						C	,	56,3664		0,56,1804	115.0	109.0	111.0		2481,	3.3	1.0	6	dbSNP_126	111	2,8168		0,2,4083	no	coding-synonymous,intron	COL12A1	NM_004370.5,NM_080645.2	,	0,58,5887	TT,TC,CC		0.0245,1.5054,0.4878	,	827/3064,	75884983	58,11832	1860	4085	5945	75941703	SO:0001819	synonymous_variant	1303			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.2481G>A	6.37:g.75884983C>T		Somatic		Capture	Illumina HiSeq	Phase_I	75941703	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	CCDS43482.1																																																																																				COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	
HTR1E	3354	hgsc.bcm.edu	37	6	87725685	87725685	+	Missense_Mutation	SNP	C	C	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr6:87725685C>G	ENST00000305344.5	+	2	1336	c.633C>G	c.(631-633)agC>agG	p.S211R		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	211					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	CGGCCAAGAGCCTTTACCAGA	0.433																																																	0			6											94.0	94.0	94.0					6																	87725685		2203	4300	6503	87782404	SO:0001583	missense	3354				CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.633C>G	6.37:g.87725685C>G	ENSP00000307766:p.Ser211Arg	Somatic		Capture	Illumina HiSeq	Phase_I	87782404	E1P503|Q9P1Y1	Missense_Mutation	SNP	ENST00000305344.5	37	CCDS5006.1	.	.	.	.	.	.	.	.	.	.	C	7.524	0.657275	0.14580	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.32753	1.44;1.44	4.38	0.4	0.16331	GPCR, rhodopsin-like superfamily (1);	0.164580	0.37437	U	0.002088	T	0.03434	0.0099	N	0.01809	-0.71	0.34168	D	0.669489	B	0.30361	0.277	B	0.37943	0.261	T	0.33111	-0.9881	10	0.05620	T	0.96	.	10.1514	0.42796	0.0:0.4626:0.0:0.5374	.	211	P28566	5HT1E_HUMAN	R	211	ENSP00000307766:S211R;ENSP00000358597:S211R	ENSP00000307766:S211R	S	+	3	2	HTR1E	87782404	0.210000	0.23517	0.999000	0.59377	0.743000	0.42351	-0.544000	0.06077	0.016000	0.14998	0.195000	0.17529	AGC		HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865	
MDN1	23195	hgsc.bcm.edu	37	6	90484418	90484418	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr6:90484418A>G	ENST00000369393.3	-	13	1971	c.1856T>C	c.(1855-1857)aTt>aCt	p.I619T	MDN1_ENST00000428876.1_Missense_Mutation_p.I619T			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	619					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)			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)		ATTGATCACAATTTCTGGTTT	0.408																																																	0			6											138.0	127.0	131.0					6																	90484418		2203	4300	6503	90541139	SO:0001583	missense	23195			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.1856T>C	6.37:g.90484418A>G	ENSP00000358400:p.Ile619Thr	Somatic		Capture	Illumina HiSeq	Phase_I	90541139	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.357154	0.41801	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.18960	3.87;3.87;2.18	5.32	5.32	0.75619	ATPase, AAA+ type, core (1);	0.062472	0.64402	D	0.000006	T	0.35595	0.0937	M	0.81942	2.565	0.49051	D	0.999744	D;B	0.63046	0.992;0.428	P;B	0.61477	0.889;0.191	T	0.21075	-1.0256	10	0.45353	T	0.12	.	14.9554	0.71110	1.0:0.0:0.0:0.0	.	546;619	Q5T795;Q9NU22	.;MDN1_HUMAN	T	619;619;546	ENSP00000358400:I619T;ENSP00000413970:I619T;ENSP00000409664:I546T	ENSP00000358400:I619T	I	-	2	0	MDN1	90541139	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.971000	0.76105	2.018000	0.59344	0.533000	0.62120	ATT		MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
FBXL4	26235	hgsc.bcm.edu	37	6	99323420	99323420	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr6:99323420A>G	ENST00000369244.2	-	9	2001	c.1573T>C	c.(1573-1575)Ttc>Ctc	p.F525L	FBXL4_ENST00000229971.1_Missense_Mutation_p.F525L	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	525					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		AGTCTGGTGAAGCACCCGGTG	0.483																																																	0			6											91.0	87.0	88.0					6																	99323420		2203	4300	6503	99430141	SO:0001583	missense	26235			AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"""F-boxes / Leucine-rich repeats"""	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.1573T>C	6.37:g.99323420A>G	ENSP00000358247:p.Phe525Leu	Somatic		Capture	Illumina HiSeq	Phase_I	99430141	B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Missense_Mutation	SNP	ENST00000369244.2	37	CCDS5041.1	.	.	.	.	.	.	.	.	.	.	A	13.29	2.192762	0.38707	.	.	ENSG00000112234	ENST00000369244;ENST00000229971	T;T	0.00745	5.75;5.75	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.00724	0.0024	N	0.21097	0.63	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.75020	0.985;0.97	T	0.66492	-0.5910	10	0.02654	T	1	.	16.2898	0.82742	1.0:0.0:0.0:0.0	.	525;525	B2R7Q5;Q9UKA2	.;FBXL4_HUMAN	L	525	ENSP00000358247:F525L;ENSP00000229971:F525L	ENSP00000229971:F525L	F	-	1	0	FBXL4	99430141	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.000000	0.76290	2.250000	0.74265	0.482000	0.46254	TTC		FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041587.2		
PDSS2	57107	hgsc.bcm.edu	37	6	107566786	107566786	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr6:107566786A>G	ENST00000369037.4	-	4	945	c.668T>C	c.(667-669)gTa>gCa	p.V223A	PDSS2_ENST00000453874.2_Missense_Mutation_p.V223A	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	223					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|regulation of body fluid levels (GO:0050878)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		TACTCCTTGTACCAAGTCCAT	0.294																																																	0			6											43.0	41.0	42.0					6																	107566786		2202	4295	6497	107673479	SO:0001583	missense	57107			AF254956	CCDS5059.1	6q21	2006-02-14	2006-02-14	2006-02-14	ENSG00000164494	ENSG00000164494			23041	protein-coding gene	gene with protein product		610564	"""chromosome 6 open reading frame 210"""	C6orf210		16262699	Standard	NM_020381		Approved	bA59I9.3	uc003prt.2	Q86YH6	OTTHUMG00000059359	ENST00000369037.4:c.668T>C	6.37:g.107566786A>G	ENSP00000358033:p.Val223Ala	Somatic		Capture	Illumina HiSeq	Phase_I	107673479	Q33DR4|Q4G158|Q5VU38|Q5VU39|Q9NR58	Missense_Mutation	SNP	ENST00000369037.4	37	CCDS5059.1	.	.	.	.	.	.	.	.	.	.	A	11.70	1.716064	0.30413	.	.	ENSG00000164494	ENST00000369037;ENST00000453874	T;T	0.63096	-0.02;-0.02	5.6	5.6	0.85130	Terpenoid synthase (2);	0.056183	0.64402	D	0.000001	T	0.56848	0.2013	L	0.54908	1.71	0.58432	D	0.999996	P;D;D	0.53885	0.924;0.963;0.963	P;P;P	0.54889	0.763;0.74;0.74	T	0.56220	-0.8015	10	0.12766	T	0.61	.	15.7873	0.78315	1.0:0.0:0.0:0.0	.	223;223;223	B4DKU5;B2RE48;Q86YH6	.;.;DLP1_HUMAN	A	223	ENSP00000358033:V223A;ENSP00000399691:V223A	ENSP00000358033:V223A	V	-	2	0	PDSS2	107673479	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.082000	0.76851	2.127000	0.65507	0.477000	0.44152	GTA		PDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131954.1	NM_020381	
PDSS2	57107	hgsc.bcm.edu	37	6	107595389	107595389	+	Silent	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr6:107595389A>G	ENST00000369037.4	-	3	751	c.474T>C	c.(472-474)gcT>gcC	p.A158A	PDSS2_ENST00000453874.2_Silent_p.A158A|PDSS2_ENST00000369031.4_Silent_p.A158A	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	158					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|regulation of body fluid levels (GO:0050878)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)	p.A158A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		GTACAAGGAGAGCAATATGAA	0.343																																																	1	Substitution - coding silent(1)	ovary(1)	6											77.0	72.0	74.0					6																	107595389		2203	4300	6503	107702082	SO:0001819	synonymous_variant	57107			AF254956	CCDS5059.1	6q21	2006-02-14	2006-02-14	2006-02-14	ENSG00000164494	ENSG00000164494			23041	protein-coding gene	gene with protein product		610564	"""chromosome 6 open reading frame 210"""	C6orf210		16262699	Standard	NM_020381		Approved	bA59I9.3	uc003prt.2	Q86YH6	OTTHUMG00000059359	ENST00000369037.4:c.474T>C	6.37:g.107595389A>G		Somatic		Capture	Illumina HiSeq	Phase_I	107702082	Q33DR4|Q4G158|Q5VU38|Q5VU39|Q9NR58	Silent	SNP	ENST00000369037.4	37	CCDS5059.1																																																																																				PDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131954.1	NM_020381	
GPRC6A	222545	hgsc.bcm.edu	37	6	117121829	117121829	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr6:117121829G>A	ENST00000310357.3	-	4	1487	c.1466C>T	c.(1465-1467)aCt>aTt	p.T489I	GPRC6A_ENST00000368549.3_Intron|GPRC6A_ENST00000530250.1_Missense_Mutation_p.T314I	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	489					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TGCCATCTTAGTGACAGTCAT	0.398																																																	0			6											215.0	187.0	197.0					6																	117121829		2203	4300	6503	117228522	SO:0001583	missense	222545			AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.1466C>T	6.37:g.117121829G>A	ENSP00000309493:p.Thr489Ile	Somatic		Capture	Illumina HiSeq	Phase_I	117228522	Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.683956	0.29872	.	.	ENSG00000173612	ENST00000310357;ENST00000530250	D;D	0.85861	-2.04;-2.04	5.35	3.42	0.39159	.	0.378211	0.22334	N	0.061425	T	0.50769	0.1635	N	0.08118	0	0.30015	N	0.8148	P;B	0.34864	0.473;0.005	B;B	0.24541	0.054;0.004	T	0.49532	-0.8930	10	0.35671	T	0.21	.	12.4156	0.55492	0.1575:0.0:0.8425:0.0	.	314;489	Q5T6X5-2;Q5T6X5	.;GPC6A_HUMAN	I	489;314	ENSP00000309493:T489I;ENSP00000433465:T314I	ENSP00000309493:T489I	T	-	2	0	GPRC6A	117228522	1.000000	0.71417	0.339000	0.25562	0.986000	0.74619	2.717000	0.47227	1.483000	0.48342	0.585000	0.79938	ACT		GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2		
HIVEP2	3097	hgsc.bcm.edu	37	6	143090797	143090797	+	Silent	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr6:143090797A>G	ENST00000367604.1	-	4	5718	c.5079T>C	c.(5077-5079)ctT>ctC	p.L1693L	HIVEP2_ENST00000367603.2_Silent_p.L1693L|HIVEP2_ENST00000012134.2_Silent_p.L1693L			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1693					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TGGACCTCAGAAGAGCCAGCG	0.468																																					Esophageal Squamous(107;843 1510 13293 16805 42198)												0			6											147.0	137.0	140.0					6																	143090797		1890	4125	6015	143132490	SO:0001819	synonymous_variant	3097			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.5079T>C	6.37:g.143090797A>G		Somatic		Capture	Illumina HiSeq	Phase_I	143132490	Q02646|Q5THT5|Q9NS05	Silent	SNP	ENST00000367604.1	37	CCDS43510.1																																																																																				HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1		
FUCA2	2519	hgsc.bcm.edu	37	6	143825327	143825327	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr6:143825327T>C	ENST00000002165.6	-	3	530	c.475A>G	c.(475-477)Agg>Ggg	p.R159G	RP1-20N2.6_ENST00000591892.1_RNA|RP1-20N2.6_ENST00000589489.1_RNA|FUCA2_ENST00000367585.1_Intron|RP1-20N2.6_ENST00000589563.1_RNA|FUCA2_ENST00000438118.2_Intron|RP1-20N2.6_ENST00000610068.1_RNA|RP1-20N2.6_ENST00000593045.1_RNA|RP1-20N2.6_ENST00000591189.1_RNA|RP1-20N2.6_ENST00000415586.1_RNA|RP1-20N2.6_ENST00000590703.1_RNA|RP1-20N2.6_ENST00000593175.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	159					fucose metabolic process (GO:0006004)|glycoside catabolic process (GO:0016139)|regulation of entry of bacterium into host cell (GO:2000535)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		ACAATGTCCCTCTTGGGCCCC	0.443																																																	0			6											110.0	113.0	112.0					6																	143825327		2203	4300	6503	143867020	SO:0001583	missense	2519			BC003060	CCDS5200.1	6q24	2012-10-02			ENSG00000001036	ENSG00000001036	3.2.1.51		4008	protein-coding gene	gene with protein product		136820				6590153	Standard	NM_032020		Approved	MGC1314, dJ20N2.5	uc003qjm.3	Q9BTY2	OTTHUMG00000015728	ENST00000002165.6:c.475A>G	6.37:g.143825327T>C	ENSP00000002165:p.Arg159Gly	Somatic		Capture	Illumina HiSeq	Phase_I	143867020	E9PEB6|Q7Z6V1|Q7Z6Y2|Q8NBK4	Missense_Mutation	SNP	ENST00000002165.6	37	CCDS5200.1	.	.	.	.	.	.	.	.	.	.	T	18.70	3.681128	0.68042	.	.	ENSG00000001036	ENST00000002165	T	0.60548	0.18	5.61	4.43	0.53597	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.74898	0.3777	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.81499	-0.0905	10	0.87932	D	0	-19.406	12.3612	0.55205	0.0:0.0:0.334:0.666	.	159	Q9BTY2	FUCO2_HUMAN	G	159	ENSP00000002165:R159G	ENSP00000002165:R159G	R	-	1	2	FUCA2	143867020	1.000000	0.71417	0.982000	0.44146	0.969000	0.65631	1.105000	0.31086	0.926000	0.37118	0.528000	0.53228	AGG		FUCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042521.2	NM_032020	
MAP3K4	4216	hgsc.bcm.edu	37	6	161533758	161533758	+	Silent	SNP	C	C	T	rs201719431		TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr6:161533758C>T	ENST00000392142.4	+	25	4726	c.4578C>T	c.(4576-4578)gcC>gcT	p.A1526A	MAP3K4_ENST00000366919.2_Silent_p.A1476A|MAP3K4_ENST00000366920.2_Silent_p.A1522A|MAP3K4_ENST00000348824.7_Silent_p.A1472A	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1526	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.A1525A(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)		GGCGTGCGGCCGACATCTGGA	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		17042	0.001		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	stomach(1)	6											133.0	130.0	131.0					6																	161533758		2203	4300	6503	161453748	SO:0001819	synonymous_variant	4216			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.4578C>T	6.37:g.161533758C>T		Somatic		Capture	Illumina HiSeq	Phase_I	161453748	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Silent	SNP	ENST00000392142.4	37	CCDS34565.1																																																																																				MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3		
TCP10	6953	hgsc.bcm.edu	37	6	167796306	167796306	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr6:167796306T>C	ENST00000397829.4	-	2	223	c.56A>G	c.(55-57)gAg>gGg	p.E19G	TCP10_ENST00000476779.2_Missense_Mutation_p.E19G|TCP10_ENST00000366827.2_Missense_Mutation_p.E19G	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	46						cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		CACCGGCATCTCCCCGGCATT	0.642																																																	0			6											29.0	38.0	35.0					6																	167796306		2167	4280	6447	167716296	SO:0001583	missense	6953			U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"""t-complex 10 (a murine tcp homolog)"", ""t-complex 10 (mouse)"", ""t-complex 10 homolog (mouse)"""			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.56A>G	6.37:g.167796306T>C	ENSP00000380929:p.Glu19Gly	Somatic		Capture	Illumina HiSeq	Phase_I	167716296	Q5JR60|Q6P4F4	Missense_Mutation	SNP	ENST00000397829.4	37	CCDS43527.1	.	.	.	.	.	.	.	.	.	.	T	14.80	2.643542	0.47258	.	.	ENSG00000203690	ENST00000366827;ENST00000397829;ENST00000476779;ENST00000485157	T;T;T;T	0.35236	2.03;2.03;1.32;1.32	2.02	2.02	0.26589	.	.	.	.	.	T	0.38161	0.1030	M	0.66939	2.045	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.986	T	0.07102	-1.0790	9	0.62326	D	0.03	.	5.978	0.19391	0.0:0.0:0.0:1.0	.	46;46	Q12799;Q12799-2	TCP10_HUMAN;.	G	19	ENSP00000355792:E19G;ENSP00000380929:E19G;ENSP00000427675:E19G;ENSP00000423829:E19G	ENSP00000355792:E19G	E	-	2	0	TCP10	167716296	0.000000	0.05858	0.003000	0.11579	0.141000	0.21300	0.392000	0.20801	0.937000	0.37394	0.254000	0.18369	GAG		TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365570.1	NM_004610	
THBS2	7058	hgsc.bcm.edu	37	6	169640603	169640603	+	Missense_Mutation	SNP	A	A	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr6:169640603A>C	ENST00000366787.3	-	7	1225	c.976T>G	c.(976-978)Ttc>Gtc	p.F326V	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	326	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TCCGCAAAGAACCGGCCATCC	0.547																																					Esophageal Squamous(91;219 1934 18562 44706)												0			6											97.0	91.0	93.0					6																	169640603		2203	4300	6503	169382528	SO:0001583	missense	7058				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.976T>G	6.37:g.169640603A>C	ENSP00000355751:p.Phe326Val	Somatic		Capture	Illumina HiSeq	Phase_I	169382528	A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	A	7.384	0.629490	0.14257	.	.	ENSG00000186340	ENST00000366787	T	0.69806	-0.43	5.29	-0.683	0.11335	von Willebrand factor, type C (3);	0.381307	0.18947	U	0.126789	T	0.14098	0.0341	N	0.05383	-0.06	0.22745	N	0.998783	B	0.02656	0.0	B	0.06405	0.002	T	0.24368	-1.0162	10	0.15952	T	0.53	-21.764	2.1515	0.03801	0.2858:0.3997:0.0816:0.2329	.	326	P35442	TSP2_HUMAN	V	326	ENSP00000355751:F326V	ENSP00000355751:F326V	F	-	1	0	THBS2	169382528	0.761000	0.28439	0.975000	0.42487	0.593000	0.36681	1.141000	0.31528	-0.029000	0.13827	0.459000	0.35465	TTC		THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247	
NLRP1	22861	hgsc.bcm.edu	37	17	5463207	5463207	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr17:5463207T>C	ENST00000572272.1	-	4	808	c.809A>G	c.(808-810)aAa>aGa	p.K270R	NLRP1_ENST00000577119.1_Missense_Mutation_p.K270R|NLRP1_ENST00000345221.3_Missense_Mutation_p.K270R|NLRP1_ENST00000269280.4_Missense_Mutation_p.K270R|NLRP1_ENST00000262467.5_Missense_Mutation_p.K270R|NLRP1_ENST00000354411.3_Missense_Mutation_p.K270R|NLRP1_ENST00000571307.1_5'UTR			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	270					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				ATCCTCATTTTTCCAGGGCCA	0.537																																																	0			17											190.0	196.0	194.0					17																	5463207		2203	4300	6503	5403931	SO:0001583	missense	22861			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.809A>G	17.37:g.5463207T>C	ENSP00000460475:p.Lys270Arg	Somatic		Capture	Illumina HiSeq	Phase_I	5403931	E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	T	13.45	2.239557	0.39598	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221	T;T;T;T;T	0.71934	-0.61;-0.61;-0.59;-0.56;-0.59	4.49	3.41	0.39046	.	0.532184	0.15814	N	0.243319	T	0.56093	0.1962	L	0.41824	1.3	0.09310	N	1	B;B;B;B;B	0.33748	0.423;0.423;0.101;0.292;0.193	B;B;B;B;B	0.27380	0.079;0.079;0.036;0.079;0.036	T	0.50056	-0.8872	10	0.51188	T	0.08	.	6.7617	0.23544	0.0:0.1068:0.0:0.8932	.	270;270;270;270;270	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;NALP1_HUMAN;.;.	R	270	ENSP00000442029:K270R;ENSP00000262467:K270R;ENSP00000269280:K270R;ENSP00000346390:K270R;ENSP00000324366:K270R	ENSP00000262467:K270R	K	-	2	0	NLRP1	5403931	0.000000	0.05858	0.005000	0.12908	0.467000	0.32768	0.089000	0.15002	0.873000	0.35799	0.529000	0.55759	AAA		NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004	
TP53	7157	hgsc.bcm.edu	37	17	7578524	7578524	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr17:7578524G>A	ENST00000269305.4	-	5	595	c.406C>T	c.(406-408)Caa>Taa	p.Q136*	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q136*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q136*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q136*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q136*|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q136*	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	136	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		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.Q136*(34)|p.0?(8)|p.C135fs*9(3)|p.Q136E(3)|p.N131fs*27(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.Q136K(1)|p.S127_Q136del10(1)|p.V73fs*9(1)|p.Q43*(1)|p.Y126fs*11(1)|p.Q4*(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.Q136_K139delQLAK(1)|p.Q136fs*34(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(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)	TTGGCCAGTTGGCAAAACATC	0.562		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)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	67	Substitution - Nonsense(36)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(5)|Substitution - Missense(4)|Insertion - In frame(2)|Insertion - Frameshift(1)|Complex - deletion inframe(1)	upper_aerodigestive_tract(9)|ovary(9)|urinary_tract(8)|central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(6)|stomach(5)|breast(4)|bone(4)|large_intestine(3)|oesophagus(3)|skin(3)|lung(3)|soft_tissue(1)|endometrium(1)|pancreas(1)	17	GRCh37	CM971503	TP53	M							52.0	52.0	52.0					17																	7578524		2203	4300	6503	7519249	SO:0001587	stop_gained	7157	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.406C>T	17.37:g.7578524G>A	ENSP00000269305:p.Gln136*	Somatic		Capture	Illumina HiSeq	Phase_I	7519249	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	34	5.349260	0.95830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-25.5387	17.2272	0.86973	0.0:0.0:1.0:0.0	.	.	.	.	X	136;136;136;136;136;136;125;43;4;43;4;136	.	ENSP00000269305:Q136X	Q	-	1	0	TP53	7519249	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	9.809000	0.99208	2.733000	0.93635	0.655000	0.94253	CAA		TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
MYH3	4621	hgsc.bcm.edu	37	17	10538195	10538195	+	Missense_Mutation	SNP	C	C	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr17:10538195C>A	ENST00000583535.1	-	31	4405	c.4318G>T	c.(4318-4320)Gcc>Tcc	p.A1440S	MYH3_ENST00000226209.7_Missense_Mutation_p.A1440S	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1440					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						AGAGCGGCGGCCAAGGAATTG	0.532																																																	0			17											117.0	102.0	107.0					17																	10538195		2203	4300	6503	10478920	SO:0001583	missense	4621				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.4318G>T	17.37:g.10538195C>A	ENSP00000464317:p.Ala1440Ser	Somatic		Capture	Illumina HiSeq	Phase_I	10478920	Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926427	0.73327	.	.	ENSG00000109063	ENST00000226209	D	0.82984	-1.67	5.27	5.27	0.74061	Myosin tail (1);	.	.	.	.	D	0.85881	0.5800	M	0.80508	2.5	0.39781	D	0.972296	B	0.26363	0.147	B	0.35353	0.201	D	0.86047	0.1523	9	0.66056	D	0.02	.	15.0101	0.71545	0.1513:0.8487:0.0:0.0	.	1440	P11055	MYH3_HUMAN	S	1440	ENSP00000226209:A1440S	ENSP00000226209:A1440S	A	-	1	0	MYH3	10478920	0.999000	0.42202	0.998000	0.56505	0.902000	0.53008	4.047000	0.57383	2.604000	0.88044	0.655000	0.94253	GCC		MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470	
ITGA3	3675	hgsc.bcm.edu	37	17	48155479	48155479	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr17:48155479C>T	ENST00000320031.8	+	17	2539	c.2209C>T	c.(2209-2211)Cag>Tag	p.Q737*	ITGA3_ENST00000007722.7_Nonsense_Mutation_p.Q737*	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	737					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						GGTGCAGCTGCAGCTCTCCAC	0.582																																																	0			17											130.0	113.0	119.0					17																	48155479		2203	4300	6503	45510478	SO:0001587	stop_gained	3675			M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.2209C>T	17.37:g.48155479C>T	ENSP00000315190:p.Gln737*	Somatic		Capture	Illumina HiSeq	Phase_I	45510478	A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Nonsense_Mutation	SNP	ENST00000320031.8	37	CCDS11558.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	10.316091|10.316091	0.99381|0.99381	.|.	.|.	ENSG00000005884|ENSG00000005884	ENST00000506827|ENST00000007722;ENST00000538917;ENST00000320031	.|.	.|.	.|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|0.174366	.|0.51477	.|D	.|0.000095	T|.	0.58366|.	0.2117|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.51068|.	-0.8752|.	4|.	.|0.19590	.|T	.|0.45	.|.	14.3399|14.3399	0.66619|0.66619	0.0:0.8506:0.1493:0.0|0.0:0.8506:0.1493:0.0	.|.	.|.	.|.	.|.	V|X	115|737;723;737	.|.	.|ENSP00000007722:Q737X	A|Q	+|+	2|1	0|0	ITGA3|ITGA3	45510478|45510478	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.659000|1.659000	0.37387|0.37387	2.569000|2.569000	0.86673|0.86673	0.655000|0.655000	0.94253|0.94253	GCA|CAG		ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501	
MBTD1	54799	hgsc.bcm.edu	37	17	49272710	49272710	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr17:49272710C>A	ENST00000586178.1	-	13	1580	c.1237G>T	c.(1237-1239)Gga>Tga	p.G413*	MBTD1_ENST00000415868.1_Nonsense_Mutation_p.G413*|MBTD1_ENST00000376381.2_Intron	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	413					chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			ATCAGGAATCCGTCAGCTAGC	0.388																																																	0			17											99.0	85.0	90.0					17																	49272710		2203	4300	6503	46627709	SO:0001587	stop_gained	54799			AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258			19866	protein-coding gene	gene with protein product							Standard	NM_017643		Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.1237G>T	17.37:g.49272710C>A	ENSP00000468304:p.Gly413*	Somatic		Capture	Illumina HiSeq	Phase_I	46627709	Q6ZVU7|Q9NXU1	Nonsense_Mutation	SNP	ENST00000586178.1	37	CCDS11581.2	.	.	.	.	.	.	.	.	.	.	C	37	6.384318	0.97524	.	.	ENSG00000011258	ENST00000405860;ENST00000415868	.	.	.	5.51	5.51	0.81932	.	0.053226	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.756	0.96291	0.0:1.0:0.0:0.0	.	.	.	.	X	413	.	ENSP00000386072:G413X	G	-	1	0	MBTD1	46627709	1.000000	0.71417	0.967000	0.41034	0.792000	0.44763	7.769000	0.85360	2.735000	0.93741	0.643000	0.83706	GGA		MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318124.1		
METTL2A	339175	hgsc.bcm.edu	37	17	60503802	60503802	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr17:60503802G>A	ENST00000311506.5	+	3	381	c.345G>A	c.(343-345)tgG>tgA	p.W115*		NM_181725.3	NP_859076.3	Q96IZ6	MET2A_HUMAN	methyltransferase like 2A	115					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			TGAAGGACTGGTTCTTGGAGA	0.403																																																	0			17											97.0	77.0	83.0					17																	60503802		692	1591	2283	57857534	SO:0001587	stop_gained	339175			AK000991	CCDS45752.1	17q23.3	2012-12-20		2006-02-10	ENSG00000087995	ENSG00000087995			25755	protein-coding gene	gene with protein product						12477932	Standard	NM_181725		Approved	FLJ12760, METTL2	uc002izv.2	Q96IZ6	OTTHUMG00000164527	ENST00000311506.5:c.345G>A	17.37:g.60503802G>A	ENSP00000309610:p.Trp115*	Somatic		Capture	Illumina HiSeq	Phase_I	57857534	A6NNC4|Q9H9G9|Q9NUI8|Q9P0B5	Nonsense_Mutation	SNP	ENST00000311506.5	37	CCDS45752.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.325194	0.60634	.	.	ENSG00000087995	ENST00000311506;ENST00000333483	.	.	.	5.02	2.97	0.34412	.	1.189680	0.05794	N	0.610975	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-1.6675	6.864	0.24082	0.1511:0.0:0.7074:0.1415	.	.	.	.	X	115	.	ENSP00000309610:W115X	W	+	3	0	METTL2A	57857534	0.000000	0.05858	0.001000	0.08648	0.084000	0.17831	0.648000	0.24828	0.494000	0.27859	0.555000	0.69702	TGG		METTL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445130.1	NM_181725	
TTYH2	94015	hgsc.bcm.edu	37	17	72248451	72248451	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr17:72248451G>A	ENST00000269346.4	+	11	1269	c.1195G>A	c.(1195-1197)Gcc>Acc	p.A399T	TTYH2_ENST00000529107.1_Missense_Mutation_p.A378T|TTYH2_ENST00000441391.2_Missense_Mutation_p.A78T	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	399						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CTCCTTCCTGGCCGCCCTCGC	0.617																																																	0			17											107.0	87.0	94.0					17																	72248451		2203	4300	6503	69760046	SO:0001583	missense	94015				CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.1195G>A	17.37:g.72248451G>A	ENSP00000269346:p.Ala399Thr	Somatic		Capture	Illumina HiSeq	Phase_I	69760046	B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Missense_Mutation	SNP	ENST00000269346.4	37	CCDS32717.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122335	0.77436	.	.	ENSG00000141540	ENST00000269346;ENST00000529107;ENST00000441391	T;T;T	0.12255	2.7;2.7;2.7	5.79	5.79	0.91817	.	0.050277	0.85682	D	0.000000	T	0.29321	0.0730	L	0.47016	1.485	0.80722	D	1	D;D	0.89917	1.0;0.993	D;D	0.97110	1.0;0.95	T	0.02059	-1.1221	10	0.07990	T	0.79	-14.0653	18.8188	0.92088	0.0:0.0:1.0:0.0	.	378;399	B4DKD1;Q9BSA4	.;TTYH2_HUMAN	T	399;378;78	ENSP00000269346:A399T;ENSP00000433089:A378T;ENSP00000394576:A78T	ENSP00000269346:A399T	A	+	1	0	TTYH2	69760046	1.000000	0.71417	0.996000	0.52242	0.731000	0.41821	6.139000	0.71728	2.722000	0.93159	0.655000	0.94253	GCC		TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1		
BAHCC1	57597	hgsc.bcm.edu	37	17	79409528	79409528	+	Missense_Mutation	SNP	C	C	T	rs370294799	byFrequency	TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr17:79409528C>T	ENST00000307745.7	+	9	1153	c.1153C>T	c.(1153-1155)Cgg>Tgg	p.R385W																								CAAAGCCCCCCGGGACCTAAA	0.746																																																	0			17											5.0	6.0	6.0					17																	79409528		1716	3796	5512	77024123	SO:0001583	missense	57597																														ENST00000307745.7:c.1153C>T	17.37:g.79409528C>T	ENSP00000303486:p.Arg385Trp	Somatic		Capture	Illumina HiSeq	Phase_I	77024123		Missense_Mutation	SNP	ENST00000307745.7	37		.	.	.	.	.	.	.	.	.	.	c	17.83	3.485965	0.63962	.	.	ENSG00000171282	ENST00000307745	T	0.23754	1.89	4.01	4.01	0.46588	.	.	.	.	.	T	0.45054	0.1323	M	0.64997	1.995	0.40585	D	0.981435	D	0.89917	1.0	D	0.77004	0.989	T	0.45977	-0.9224	9	0.87932	D	0	.	10.5039	0.44821	0.1943:0.8057:0.0:0.0	.	385	Q9P281	BAHC1_HUMAN	W	385	ENSP00000303486:R385W	ENSP00000303486:R385W	R	+	1	2	AC110285.1	77024123	0.120000	0.22244	1.000000	0.80357	0.794000	0.44872	0.148000	0.16224	2.101000	0.63845	0.282000	0.19409	CGG		RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			
ASPSCR1	79058	hgsc.bcm.edu	37	17	79967066	79967066	+	Splice_Site	SNP	C	C	T	rs558896726		TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr17:79967066C>T	ENST00000306739.4	+	8	1184	c.1087C>T	c.(1087-1089)Cgg>Tgg	p.R363W	ASPSCR1_ENST00000306729.7_Splice_Site_p.R363W|ASPSCR1_ENST00000580534.1_Splice_Site_p.R286W	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	363	Interaction with GLUT4. {ECO:0000250}.				glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)			ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CAAGAGTGAGCGGTGGGTGCC	0.672			T	TFE3	alveolar soft part sarcoma								C|||	1	0.000199681	0.0	0.0	5008	,	,		15399	0.0		0.0	False		,,,				2504	0.001							Dom	yes		17	17q25	79058	"""alveolar soft part sarcoma chromosome region, candidate 1"""		M	0			17											48.0	40.0	43.0					17																	79967066		2196	4297	6493	77560355	SO:0001630	splice_region_variant	79058			AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"""UBX domain containing"""	13825	protein-coding gene	gene with protein product	"""UBX domain protein 9"""	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.1088+1C>T	17.37:g.79967066C>T		Somatic		Capture	Illumina HiSeq	Phase_I	77560355	A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Missense_Mutation	SNP	ENST00000306739.4	37	CCDS11796.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789400	0.90367	.	.	ENSG00000169696	ENST00000306739;ENST00000306729;ENST00000344865	T;T	0.10960	2.82;2.82	5.48	4.45	0.53987	.	0.054169	0.64402	D	0.000001	T	0.29783	0.0744	M	0.72118	2.19	0.47245	D	0.999367	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.995;0.995;0.991;0.999	T	0.01007	-1.1483	10	0.87932	D	0	-30.4621	11.0906	0.48113	0.2816:0.7183:0.0:0.0	.	286;286;363;363;286	Q9BZE9-3;Q9BZE9-4;Q9BZE9-2;Q9BZE9;C9JAL9	.;.;.;ASPC1_HUMAN;.	W	363;363;286	ENSP00000302176:R363W;ENSP00000306625:R363W	ENSP00000306625:R363W	R	+	1	2	ASPSCR1	77560355	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.650000	0.46665	2.563000	0.86464	0.655000	0.94253	CGG		ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441972.1	NM_024083	Missense_Mutation
USP25	29761	hgsc.bcm.edu	37	21	17250151	17250151	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr21:17250151G>T	ENST00000285679.6	+	23	3205	c.2836G>T	c.(2836-2838)Gga>Tga	p.G946*	USP25_ENST00000400183.2_Nonsense_Mutation_p.G1016*|USP25_ENST00000285681.2_Nonsense_Mutation_p.G978*|USP25_ENST00000351097.5_Nonsense_Mutation_p.G341*	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	946					cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)	p.G946R(1)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		CTTCGAATCTGGAGAGGATCG	0.328																																																	1	Substitution - Missense(1)	ovary(1)	21											91.0	93.0	92.0					21																	17250151		2203	4300	6503	16172022	SO:0001587	stop_gained	29761			AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.2836G>T	21.37:g.17250151G>T	ENSP00000285679:p.Gly946*	Somatic		Capture	Illumina HiSeq	Phase_I	16172022	C0LSZ0|Q6DHZ9|Q9H9W1	Nonsense_Mutation	SNP	ENST00000285679.6	37	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	G	44	10.614539	0.99438	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000351097;ENST00000400183	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.1605	0.93529	0.0:0.0:1.0:0.0	.	.	.	.	X	978;946;341;1016	.	ENSP00000285679:G946X	G	+	1	0	USP25	16172022	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.412000	0.97347	2.641000	0.89580	0.585000	0.79938	GGA		USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1		
SON	6651	hgsc.bcm.edu	37	21	34925259	34925259	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr21:34925259T>C	ENST00000356577.4	+	3	4197	c.3722T>C	c.(3721-3723)gTa>gCa	p.V1241A	SON_ENST00000290239.6_Missense_Mutation_p.V1241A|SON_ENST00000381679.4_Missense_Mutation_p.V1241A|SON_ENST00000300278.4_Missense_Mutation_p.V1241A|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1241					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TCAGTTTTAGTATCAGAGGCT	0.473																																																	0			21											141.0	148.0	145.0					21																	34925259		2203	4300	6503	33847129	SO:0001583	missense	6651			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.3722T>C	21.37:g.34925259T>C	ENSP00000348984:p.Val1241Ala	Somatic		Capture	Illumina HiSeq	Phase_I	33847129	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	CCDS13629.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.368|0.368	-0.935563|-0.935563	0.02340|0.02340	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679|ENST00000436227	T;T;T;T|.	0.10860|.	3.03;3.02;3.01;2.83|.	5.54|5.54	1.46|1.46	0.22682|0.22682	.|.	0.729009|.	0.12327|.	N|.	0.478733|.	T|T	0.18299|0.18299	0.0439|0.0439	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.06786|.	0.001;0.001;0.0;0.001;0.001|.	B;B;B;B;B|.	0.06405|.	0.002;0.001;0.001;0.002;0.002|.	T|T	0.24476|0.24476	-1.0159|-1.0159	10|5	0.02654|.	T|.	1|.	.|.	4.1841|4.1841	0.10390|0.10390	0.1549:0.4071:0.0:0.438|0.1549:0.4071:0.0:0.438	.|.	1241;1241;922;1241;1241|.	P18583-10;P18583;P18583-2;P18583-3;P18583-6|.	.;SON_HUMAN;.;.;.|.	A|H	1241|236	ENSP00000348984:V1241A;ENSP00000290239:V1241A;ENSP00000300278:V1241A;ENSP00000371095:V1241A|.	ENSP00000290239:V1241A|.	V|Y	+|+	2|1	0|0	SON|SON	33847129|33847129	0.154000|0.154000	0.22792|0.22792	0.758000|0.758000	0.31321|0.31321	0.740000|0.740000	0.42216|0.42216	-0.428000|-0.428000	0.06991|0.06991	-0.013000|-0.013000	0.14199|0.14199	-0.468000|-0.468000	0.05107|0.05107	GTA|TAT		SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927	
MRPS34	65993	hgsc.bcm.edu	37	16	1822399	1822399	+	Silent	SNP	G	G	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr16:1822399G>A	ENST00000397375.2	-	3	515	c.480C>T	c.(478-480)agC>agT	p.S160S	MRPS34_ENST00000177742.3_Silent_p.S167S|NME3_ENST00000219302.3_5'Flank|EME2_ENST00000307394.7_5'Flank|EME2_ENST00000568449.1_5'Flank|NME3_ENST00000563498.1_5'Flank	NM_023936.1	NP_076425.1	P82930	RT34_HUMAN	mitochondrial ribosomal protein S34	160						mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|skin(2)	3						CGGAGGCCAGGCTGTCTTCCG	0.627																																																	0			16											69.0	64.0	65.0					16																	1822399		2195	4300	6495	1762400	SO:0001819	synonymous_variant	65993			BC001182	CCDS10444.1, CCDS73805.1	16p13.3	2012-09-13			ENSG00000074071	ENSG00000074071		"""Mitochondrial ribosomal proteins / small subunits"""	16618	protein-coding gene	gene with protein product		611994					Standard	NM_023936		Approved	MRP-S12, MGC2616	uc002cmo.3	P82930	OTTHUMG00000128636	ENST00000397375.2:c.480C>T	16.37:g.1822399G>A		Somatic		Capture	Illumina HiSeq	Phase_I	1762400	Q9BVI7	Silent	SNP	ENST00000397375.2	37	CCDS10444.1																																																																																				MRPS34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250506.1	NM_023936	
TSC2	7249	hgsc.bcm.edu	37	16	2121553	2121553	+	Missense_Mutation	SNP	C	C	T	rs45437797		TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr16:2121553C>T	ENST00000219476.3	+	18	2512	c.1882C>T	c.(1882-1884)Cgc>Tgc	p.R628C	TSC2_ENST00000382538.6_Missense_Mutation_p.R579C|TSC2_ENST00000439673.2_Missense_Mutation_p.R591C|TSC2_ENST00000353929.4_Missense_Mutation_p.R628C|TSC2_ENST00000350773.4_Missense_Mutation_p.R628C|TSC2_ENST00000401874.2_Missense_Mutation_p.R628C|TSC2_ENST00000568454.1_Missense_Mutation_p.R639C	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	628					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|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)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CTCACTGCACCGCCTGGGCCT	0.642			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	0			16						C	CYS/ARG,CYS/ARG,CYS/ARG	2,4394	4.2+/-10.8	0,2,2196	79.0	55.0	63.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1882,1882,1882	5.4	1.0	16	dbSNP_127	63	0,8598		0,0,4299	no	missense,missense,missense	TSC2	NM_000548.3,NM_001077183.1,NM_001114382.1	180,180,180	0,2,6495	TT,TC,CC		0.0,0.0455,0.0154	probably-damaging,probably-damaging,probably-damaging	628/1808,628/1741,628/1785	2121553	2,12992	2198	4299	6497	2061554	SO:0001583	missense	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.1882C>T	16.37:g.2121553C>T	ENSP00000219476:p.Arg628Cys	Somatic		Capture	Illumina HiSeq	Phase_I	2061554	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	C	34	5.352462	0.95830	4.55E-4	0.0	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18;-2.18;-2.18	5.45	5.45	0.79879	Tuberin-type domain (1);	0.000000	0.85682	D	0.000000	D	0.92315	0.7562	L	0.54323	1.7	0.80722	D	1	D;D;P;D;P;D	0.89917	0.975;1.0;0.89;1.0;0.882;1.0	P;D;B;D;B;D	0.91635	0.833;0.996;0.422;0.999;0.439;0.997	D	0.92716	0.6187	10	0.72032	D	0.01	-29.7962	19.2777	0.94039	0.0:1.0:0.0:0.0	.	579;591;628;628;628;628	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	C	628;628;628;591;579;628	ENSP00000219476:R628C;ENSP00000384468:R628C;ENSP00000248099:R628C;ENSP00000399232:R591C;ENSP00000371978:R579C;ENSP00000344383:R628C	ENSP00000219476:R628C	R	+	1	0	TSC2	2061554	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.422000	0.80217	2.551000	0.86045	0.462000	0.41574	CGC		TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548	
TSC2	7249	hgsc.bcm.edu	37	16	2136355	2136355	+	Silent	SNP	C	C	T	rs137854134		TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr16:2136355C>T	ENST00000219476.3	+	37	5454	c.4824C>T	c.(4822-4824)taC>taT	p.Y1608Y	TSC2_ENST00000382538.6_Silent_p.Y1493Y|TSC2_ENST00000439673.2_Silent_p.Y1505Y|TSC2_ENST00000353929.4_Silent_p.Y1565Y|TSC2_ENST00000350773.4_Silent_p.Y1585Y|TSC2_ENST00000401874.2_Silent_p.Y1541Y|TSC2_ENST00000568454.1_Silent_p.Y1552Y	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1608	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|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)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				AGTTCACCTACTGCTGGCACG	0.662			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	0			16											135.0	104.0	114.0					16																	2136355		2196	4299	6495	2076356	SO:0001819	synonymous_variant	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.4824C>T	16.37:g.2136355C>T		Somatic		Capture	Illumina HiSeq	Phase_I	2076356	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	ENST00000219476.3	37	CCDS10458.1																																																																																				TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548	
CORO7	79585	hgsc.bcm.edu	37	16	4455502	4455502	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr16:4455502G>A	ENST00000251166.4	-	6	699	c.554C>T	c.(553-555)aCg>aTg	p.T185M	CORO7_ENST00000537233.2_Missense_Mutation_p.T167M|CORO7_ENST00000539968.1_De_novo_Start_InFrame|CORO7_ENST00000577144.1_5'Flank|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.T185M|CORO7_ENST00000574025.1_Missense_Mutation_p.T100M|CORO7_ENST00000423908.2_Intron	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	185					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CTTGCACGCCGTGCCCACCAG	0.677																																																	0			16											44.0	42.0	43.0					16																	4455502		2197	4299	6496	4395503	SO:0001583	missense	79585			AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.554C>T	16.37:g.4455502G>A	ENSP00000251166:p.Thr185Met	Somatic		Capture	Illumina HiSeq	Phase_I	4395503	B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP	ENST00000251166.4	37	CCDS10513.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.850999	0.51270	.	.	ENSG00000103426	ENST00000251166;ENST00000537233	T	0.68181	-0.31	4.4	4.4	0.53042	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.679936	0.12147	U	0.495271	D	0.87144	0.6104	H	0.95365	3.66	0.80722	D	1	D;D;D;D	0.89917	0.992;1.0;1.0;1.0	P;D;D;D	0.91635	0.752;0.999;0.984;0.963	D	0.88671	0.3195	10	0.87932	D	0	-12.9482	14.1838	0.65592	0.0:0.0:1.0:0.0	.	100;167;185;166	P57737-2;B4DFD6;P57737;B4DKU9	.;.;CORO7_HUMAN;.	M	185;100	ENSP00000251166:T185M	ENSP00000251166:T185M	T	-	2	0	CORO7	4395503	1.000000	0.71417	0.892000	0.35008	0.014000	0.08584	6.441000	0.73439	2.432000	0.82394	0.655000	0.94253	ACG		CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535	
USP7	7874	hgsc.bcm.edu	37	16	9014257	9014257	+	Silent	SNP	G	G	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr16:9014257G>T	ENST00000344836.4	-	5	768	c.570C>A	c.(568-570)acC>acA	p.T190T	USP7_ENST00000381886.4_Silent_p.T174T|USP7_ENST00000566224.1_5'Flank|USP7_ENST00000535863.1_Silent_p.T91T	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	190	Interaction with TSPYL5.|Interaction with p53/TP53, MDM2 and EBNA1.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Necessary for nuclear localization.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						AGACTTCAAAGGTAACTTTGT	0.363																																																	0			16											101.0	97.0	98.0					16																	9014257		2197	4300	6497	8921758	SO:0001819	synonymous_variant	7874			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.570C>A	16.37:g.9014257G>T		Somatic		Capture	Illumina HiSeq	Phase_I	8921758	A6NMY8|B7Z815|H0Y3G8	Silent	SNP	ENST00000344836.4	37	CCDS32385.1																																																																																				USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2		
DNAH3	55567	hgsc.bcm.edu	37	16	21136639	21136639	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr16:21136639G>A	ENST00000261383.3	-	9	1260	c.1261C>T	c.(1261-1263)Cat>Tat	p.H421Y	CTC-508F8.1_ENST00000575612.1_RNA|DNAH3_ENST00000415178.1_Missense_Mutation_p.H421Y	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	421	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGAGCAAAATGAATCCAGTGC	0.498																																																	0			16											100.0	101.0	101.0					16																	21136639		2201	4300	6501	21044140	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.1261C>T	16.37:g.21136639G>A	ENSP00000261383:p.His421Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	21044140	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.872062	0.00542	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.22945	1.93;2.09	5.75	3.8	0.43715	.	0.811324	0.11533	N	0.554539	T	0.19765	0.0475	L	0.36672	1.1	0.09310	N	1	B;B	0.17038	0.0;0.02	B;B	0.13407	0.001;0.009	T	0.21793	-1.0235	10	0.14252	T	0.57	.	11.0236	0.47732	0.1519:0.0:0.8481:0.0	.	421;392	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	Y	421;421;392	ENSP00000261383:H421Y;ENSP00000394245:H421Y	ENSP00000261383:H421Y	H	-	1	0	DNAH3	21044140	0.998000	0.40836	0.104000	0.21259	0.014000	0.08584	4.779000	0.62375	1.451000	0.47736	0.655000	0.94253	CAT		DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
SH2B1	25970	hgsc.bcm.edu	37	16	28880332	28880332	+	Silent	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr16:28880332A>G	ENST00000322610.8	+	6	1486	c.1047A>G	c.(1045-1047)gaA>gaG	p.E349E	SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000337120.5_Silent_p.E349E|SH2B1_ENST00000395532.4_Silent_p.E349E|SH2B1_ENST00000538342.1_Silent_p.E13E|SH2B1_ENST00000359285.5_Silent_p.E349E|SH2B1_ENST00000545570.1_Silent_p.E39E			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	349	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation). {ECO:0000250}.|PH.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TGTAGGTGGAAGGTCCATCCG	0.547																																																	0			16											126.0	114.0	118.0					16																	28880332		2197	4300	6497	28787833	SO:0001819	synonymous_variant	25970			AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.1047A>G	16.37:g.28880332A>G		Somatic		Capture	Illumina HiSeq	Phase_I	28787833	A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Silent	SNP	ENST00000322610.8	37	CCDS53996.1																																																																																				SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503	
RABEP2	79874	hgsc.bcm.edu	37	16	28925786	28925786	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr16:28925786T>C	ENST00000358201.4	-	5	1253	c.665A>G	c.(664-666)gAg>gGg	p.E222G	RABEP2_ENST00000357573.6_Missense_Mutation_p.E222G|RABEP2_ENST00000544477.1_Missense_Mutation_p.E151G|RABEP2_ENST00000561803.1_5'Flank	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	222					endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						AGCGAAGGCCTCAGCGGCTGG	0.692																																					Pancreas(66;639 1284 10093 31061 49099)												0			16											22.0	28.0	26.0					16																	28925786		2020	4179	6199	28833287	SO:0001583	missense	79874			AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.665A>G	16.37:g.28925786T>C	ENSP00000350934:p.Glu222Gly	Somatic		Capture	Illumina HiSeq	Phase_I	28833287		Missense_Mutation	SNP	ENST00000358201.4	37	CCDS42140.1	.	.	.	.	.	.	.	.	.	.	T	17.90	3.501972	0.64298	.	.	ENSG00000177548	ENST00000358201;ENST00000357573;ENST00000544477	T;T;T	0.52754	0.65;0.65;0.69	5.13	5.13	0.70059	.	0.179276	0.47852	D	0.000207	T	0.55673	0.1935	L	0.27053	0.805	0.35465	D	0.796886	D;D;D;D	0.89917	0.999;1.0;0.979;0.999	D;D;P;D	0.80764	0.986;0.994;0.747;0.986	T	0.68217	-0.5467	10	0.87932	D	0	-23.5048	13.9151	0.63893	0.0:0.0:0.0:1.0	.	151;222;222;222	B4DHR0;Q9H5N1-2;Q49AT6;Q9H5N1	.;.;.;RABE2_HUMAN	G	222;222;151	ENSP00000350934:E222G;ENSP00000350186:E222G;ENSP00000442798:E151G	ENSP00000350186:E222G	E	-	2	0	RABEP2	28833287	0.995000	0.38212	0.995000	0.50966	0.449000	0.32228	1.771000	0.38542	1.933000	0.56026	0.379000	0.24179	GAG		RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1	NM_024816	
ABCC11	85320	hgsc.bcm.edu	37	16	48234337	48234337	+	Silent	SNP	C	C	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr16:48234337C>A	ENST00000394747.1	-	14	2281	c.1932G>T	c.(1930-1932)ctG>ctT	p.L644L	ABCC11_ENST00000353782.5_Silent_p.L644L|ABCC11_ENST00000394748.1_Silent_p.L644L|ABCC11_ENST00000537808.1_Silent_p.L644L|ABCC11_ENST00000356608.2_Silent_p.L644L	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	644	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|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)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	CGGCGCGGGCCAGGCTGATCC	0.592																																																	0			16											71.0	58.0	62.0					16																	48234337		2201	4300	6501	46791838	SO:0001819	synonymous_variant	85320			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.1932G>T	16.37:g.48234337C>A		Somatic		Capture	Illumina HiSeq	Phase_I	46791838	Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	ENST00000394747.1	37	CCDS10732.1																																																																																				ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583	
CES5A	221223	hgsc.bcm.edu	37	16	55880570	55880570	+	Silent	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr16:55880570A>G	ENST00000290567.9	-	13	1642	c.1521T>C	c.(1519-1521)tcT>tcC	p.S507S	CES5A_ENST00000518005.1_Silent_p.S401S|CES5A_ENST00000521992.1_Silent_p.S536S|CES5A_ENST00000520435.1_Silent_p.S477S|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000319165.9_Silent_p.S457S	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	507						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTGGCCACAGAGACAGGTCGT	0.547																																																	0			16											172.0	174.0	173.0					16																	55880570		2198	4300	6498	54438071	SO:0001819	synonymous_variant	0			AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.1521T>C	16.37:g.55880570A>G		Somatic		Capture	Illumina HiSeq	Phase_I	54438071	B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Silent	SNP	ENST00000290567.9	37	CCDS45490.1																																																																																				CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024	
KATNB1	10300	hgsc.bcm.edu	37	16	57787863	57787863	+	Missense_Mutation	SNP	C	C	T	rs143811277		TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr16:57787863C>T	ENST00000379661.3	+	13	1576	c.1184C>T	c.(1183-1185)aCg>aTg	p.T395M		NM_005886.2	NP_005877.2			katanin p80 (WD repeat containing) subunit B 1											cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				GCAGGTCGGACGCCACCCCGG	0.677																																																	0			16						C	MET/THR	2,4394	4.2+/-10.8	0,2,2196	62.0	55.0	57.0		1184	4.8	1.0	16	dbSNP_134	57	0,8600		0,0,4300	yes	missense	KATNB1	NM_005886.2	81	0,2,6496	TT,TC,CC		0.0,0.0455,0.0154	probably-damaging	395/656	57787863	2,12994	2198	4300	6498	56345364	SO:0001583	missense	10300			AF052432	CCDS10788.1	16q12.2	2013-01-09	2003-03-13		ENSG00000140854	ENSG00000140854		"""WD repeat domain containing"""	6217	protein-coding gene	gene with protein product		602703	"""katanin p80 (WD40-containing) subunit B 1"""			9568719	Standard	XM_006721121		Approved		uc002eml.1	Q9BVA0	OTTHUMG00000133467	ENST00000379661.3:c.1184C>T	16.37:g.57787863C>T	ENSP00000368982:p.Thr395Met	Somatic		Capture	Illumina HiSeq	Phase_I	56345364		Missense_Mutation	SNP	ENST00000379661.3	37	CCDS10788.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417642	0.83449	4.55E-4	0.0	ENSG00000140854	ENST00000379661	T	0.56275	0.47	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.71821	0.3385	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.76102	-0.3082	10	0.87932	D	0	5.7195	16.4232	0.83773	0.0:1.0:0.0:0.0	.	395	Q9BVA0	KTNB1_HUMAN	M	395	ENSP00000368982:T395M	ENSP00000368982:T395M	T	+	2	0	KATNB1	56345364	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	5.634000	0.67833	2.216000	0.71823	0.313000	0.20887	ACG		KATNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257343.3		
CDH11	1009	hgsc.bcm.edu	37	16	64981767	64981767	+	Silent	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr16:64981767T>C	ENST00000268603.4	-	13	2745	c.2130A>G	c.(2128-2130)ccA>ccG	p.P710P	CDH11_ENST00000394156.3_3'UTR|CDH11_ENST00000566827.1_Silent_p.P584P	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	710					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TGTTGGGCGCTGGCCGGAGCC	0.507			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																														Dom	yes		16	16q22.1	1009	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""		M	0			16											119.0	111.0	114.0					16																	64981767		2203	4300	6503	63539268	SO:0001819	synonymous_variant	1009			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.2130A>G	16.37:g.64981767T>C		Somatic		Capture	Illumina HiSeq	Phase_I	63539268	A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	ENST00000268603.4	37	CCDS10803.1																																																																																				CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664	
PMFBP1	83449	hgsc.bcm.edu	37	16	72184567	72184567	+	Missense_Mutation	SNP	G	G	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr16:72184567G>C	ENST00000237353.10	-	5	837	c.576C>G	c.(574-576)atC>atG	p.I192M	PMFBP1_ENST00000537465.1_Missense_Mutation_p.I192M|PMFBP1_ENST00000355636.6_Missense_Mutation_p.I47M	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	192						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CTAGTAACTCGATGTTGCTCA	0.527																																																	0			16											166.0	152.0	157.0					16																	72184567		2198	4300	6498	70742068	SO:0001583	missense	83449			AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.576C>G	16.37:g.72184567G>C	ENSP00000237353:p.Ile192Met	Somatic		Capture	Illumina HiSeq	Phase_I	70742068	B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000237353.10	37	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709510	0.68730	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	T;T;T	0.77620	-1.11;-1.11;2.53	6.17	-8.37	0.00976	.	0.000000	0.52532	D	0.000061	T	0.69324	0.3098	N	0.24115	0.695	0.24619	N	0.99368	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.70487	0.969;0.969;0.969	T	0.66002	-0.6031	10	0.33141	T	0.24	-18.89	7.5191	0.27618	0.5896:0.0:0.2119:0.1985	.	192;192;192	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	M	192;192;47	ENSP00000443817:I192M;ENSP00000237353:I192M;ENSP00000347854:I47M	ENSP00000237353:I192M	I	-	3	3	PMFBP1	70742068	0.040000	0.19996	0.835000	0.33067	0.925000	0.55904	-1.676000	0.01946	-1.103000	0.03019	-0.140000	0.14226	ATC		PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293	
ESCO1	114799	hgsc.bcm.edu	37	18	19153967	19153967	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr18:19153967G>T	ENST00000269214.5	-	4	1775	c.838C>A	c.(838-840)Cca>Aca	p.P280T		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	280					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						GATGGCTGTGGACTTTTTGGG	0.428																																																	0			18											136.0	137.0	137.0					18																	19153967		2203	4300	6503	17407965	SO:0001583	missense	114799			AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"""establishment of cohesion 1 homolog 1 (S. cerevisiae)"""			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.838C>A	18.37:g.19153967G>T	ENSP00000269214:p.Pro280Thr	Somatic		Capture	Illumina HiSeq	Phase_I	17407965	B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Missense_Mutation	SNP	ENST00000269214.5	37	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.606392	0.28623	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	T;T	0.58358	0.34;1.88	5.5	1.19	0.21007	.	0.457002	0.20803	N	0.085387	T	0.43299	0.1241	L	0.57536	1.79	0.28106	N	0.931206	B	0.20887	0.049	B	0.22386	0.039	T	0.34129	-0.9841	10	0.38643	T	0.18	-22.9051	6.1635	0.20378	0.6007:0.0:0.3993:0.0	.	280	Q5FWF5	ESCO1_HUMAN	T	280	ENSP00000269214:P280T;ENSP00000372763:P280T	ENSP00000269214:P280T	P	-	1	0	ESCO1	17407965	0.998000	0.40836	0.986000	0.45419	0.986000	0.74619	1.178000	0.31981	0.311000	0.23014	0.655000	0.94253	CCA		ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911	
PIK3C3	5289	hgsc.bcm.edu	37	18	39567805	39567805	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr18:39567805G>A	ENST00000262039.4	+	5	647	c.561G>A	c.(559-561)atG>atA	p.M187I	PIK3C3_ENST00000398870.3_Missense_Mutation_p.M124I	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	187					autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|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)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						AAGGACACATGGTGAAAGTAG	0.308										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)												0			18											103.0	105.0	104.0					18																	39567805		2203	4300	6503	37821803	SO:0001583	missense	5289			Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.561G>A	18.37:g.39567805G>A	ENSP00000262039:p.Met187Ile	Somatic		Capture	Illumina HiSeq	Phase_I	37821803	Q15134	Missense_Mutation	SNP	ENST00000262039.4	37	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.078133	0.55753	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	T;T	0.75154	-0.91;-0.91	5.66	5.66	0.87406	Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.59266	0.2181	N	0.11000	0.08	0.80722	D	1	B;B	0.14012	0.005;0.009	B;B	0.17098	0.017;0.017	T	0.53795	-0.8388	9	.	.	.	.	20.1041	0.97884	0.0:0.0:1.0:0.0	.	124;187	A8MYT4;Q8NEB9	.;PK3C3_HUMAN	I	187;124	ENSP00000262039:M187I;ENSP00000381845:M124I	.	M	+	3	0	PIK3C3	37821803	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.781000	0.99029	2.826000	0.97356	0.655000	0.94253	ATG		PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647	
LOXHD1	125336	hgsc.bcm.edu	37	18	44085903	44085903	+	Missense_Mutation	SNP	T	T	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr18:44085903T>G	ENST00000398722.4	-	30	4941	c.4942A>C	c.(4942-4944)Aac>Cac	p.N1648H	LOXHD1_ENST00000300591.6_Missense_Mutation_p.N815H|LOXHD1_ENST00000441551.2_Missense_Mutation_p.N1720H|LOXHD1_ENST00000398686.4_Missense_Mutation_p.N165H|LOXHD1_ENST00000441893.2_Missense_Mutation_p.N797H|LOXHD1_ENST00000536736.1_Missense_Mutation_p.N1864H|LOXHD1_ENST00000582408.1_Missense_Mutation_p.N753H|LOXHD1_ENST00000398705.2_Missense_Mutation_p.N165H|LOXHD1_ENST00000579038.1_Missense_Mutation_p.N719H			Q8IVV2	LOXH1_HUMAN	lipoxygenase homology domains 1	1648	PLAT 12. {ECO:0000255|PROSITE- ProRule:PRU00152}.				calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|sensory perception of sound (GO:0007605)	membrane (GO:0016020)|stereocilium (GO:0032420)	calcium channel activity (GO:0005262)			NS(3)|autonomic_ganglia(1)|breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|pancreas(1)|prostate(4)|skin(4)|stomach(1)	36						TTGTTCCAGTTTGCCGACTGC	0.562																																																	0			18											193.0	181.0	184.0					18																	44085903		692	1591	2283	42339901	SO:0001583	missense	125336			AK057232	CCDS45861.1, CCDS45862.1, CCDS54184.1	18q21.1	2009-09-11			ENSG00000167210	ENSG00000167210			26521	protein-coding gene	gene with protein product		613072	"""deafness, autosomal recessive 77"""	DFNB77		19732867	Standard	NM_144612		Approved	FLJ32670, LH2D1	uc010xcw.1	Q8IVV2	OTTHUMG00000132644	ENST00000398722.4:c.4942A>C	18.37:g.44085903T>G	ENSP00000381707:p.Asn1648His	Somatic		Capture	Illumina HiSeq	Phase_I	42339901	B7WNN3|B7WNT1|B7WPI9|Q6ZRY7|Q86WW9|Q96DL7	Missense_Mutation	SNP	ENST00000398722.4	37		.	.	.	.	.	.	.	.	.	.	T	13.75	2.330715	0.41297	.	.	ENSG00000167210	ENST00000300591;ENST00000398722;ENST00000398705;ENST00000536736;ENST00000441893;ENST00000398686;ENST00000414184	T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	5.64	5.64	0.86602	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	.	.	.	.	T	0.63189	0.2490	N	0.20401	0.57	0.40401	D	0.979644	D;D;D	0.65815	0.995;0.995;0.99	P;P;P	0.61201	0.885;0.834;0.855	T	0.68387	-0.5422	9	0.62326	D	0.03	.	12.3867	0.55336	0.0:0.0:0.1404:0.8596	.	1864;797;1648	F5GZB4;F8WA52;Q8IVV2	.;.;LOXH1_HUMAN	H	815;1648;165;1864;797;165;165	ENSP00000300591:N815H;ENSP00000381707:N1648H;ENSP00000381692:N165H;ENSP00000444586:N1864H;ENSP00000409062:N797H;ENSP00000381676:N165H;ENSP00000392440:N165H	ENSP00000300591:N815H	N	-	1	0	LOXHD1	42339901	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	6.202000	0.72131	2.139000	0.66308	0.533000	0.62120	AAC		LOXHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_144612	
SMAD4	4089	hgsc.bcm.edu	37	18	48575189	48575189	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr18:48575189T>C	ENST00000342988.3	+	3	921	c.383T>C	c.(382-384)gTg>gCg	p.V128A	SMAD4_ENST00000588745.1_Missense_Mutation_p.V128A|SMAD4_ENST00000452201.2_Missense_Mutation_p.V128A|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000398417.2_Missense_Mutation_p.V128A	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	128	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				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.?(4)		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)		AGTGTCTGTGTGAATCCATAT	0.373																																																	40	Whole gene deletion(36)|Unknown(4)	pancreas(26)|large_intestine(3)|stomach(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)|NS(1)	18											152.0	136.0	141.0					18																	48575189		2203	4300	6503	46829187	SO:0001583	missense	4089			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.383T>C	18.37:g.48575189T>C	ENSP00000341551:p.Val128Ala	Somatic		Capture	Illumina HiSeq	Phase_I	46829187	A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.855079	0.91355	.	.	ENSG00000141646	ENST00000452201;ENST00000342988;ENST00000544926;ENST00000398417	T;T;T	0.80566	-1.39;-1.39;-1.39	5.48	5.48	0.80851	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	D	0.90410	0.6998	M	0.88377	2.95	0.58432	D	0.999999	D	0.63046	0.992	D	0.66196	0.942	D	0.92229	0.5791	10	0.87932	D	0	.	14.5339	0.67947	0.0:0.0:0.0:1.0	.	128	Q13485	SMAD4_HUMAN	A	128	ENSP00000409551:V128A;ENSP00000341551:V128A;ENSP00000381452:V128A	ENSP00000341551:V128A	V	+	2	0	SMAD4	46829187	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.014000	0.88676	2.053000	0.61076	0.477000	0.44152	GTG		SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359	
SERPINB5	5268	hgsc.bcm.edu	37	18	61170747	61170747	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr18:61170747T>C	ENST00000382771.4	+	7	1212	c.920T>C	c.(919-921)aTg>aCg	p.M307T		NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	307					cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelium (GO:0002009)|negative regulation of endopeptidase activity (GO:0010951)|prostate gland morphogenesis (GO:0060512)|regulation of epithelial cell proliferation (GO:0050678)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						TTCTCTGGAATGTCAGAGACC	0.438																																																	0			18											97.0	83.0	87.0					18																	61170747		2203	4300	6503	59321727	SO:0001583	missense	5268			U04313	CCDS32839.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206075	ENSG00000206075		"""Serine (or cysteine) peptidase inhibitors"""	8949	protein-coding gene	gene with protein product	"""protease inhibitor 5 (maspin)"""	154790	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5"""	PI5		8290962, 7724531, 16720730, 24172014	Standard	NM_002639		Approved	maspin	uc002liz.4	P36952	OTTHUMG00000141307	ENST00000382771.4:c.920T>C	18.37:g.61170747T>C	ENSP00000372221:p.Met307Thr	Somatic		Capture	Illumina HiSeq	Phase_I	59321727	B2R6Y4|Q6N0B4|Q8WW89	Missense_Mutation	SNP	ENST00000382771.4	37	CCDS32839.1	.	.	.	.	.	.	.	.	.	.	T	19.00	3.742847	0.69418	.	.	ENSG00000206075	ENST00000382771	D	0.85411	-1.98	5.95	4.78	0.61160	Serpin domain (3);	0.211041	0.49305	D	0.000145	D	0.88474	0.6446	M	0.88704	2.975	0.80722	D	1	B	0.31680	0.335	B	0.36608	0.229	D	0.87803	0.2626	10	0.87932	D	0	.	13.4366	0.61088	0.0:0.0:0.1309:0.8691	.	307	P36952	SPB5_HUMAN	T	307	ENSP00000372221:M307T	ENSP00000372221:M307T	M	+	2	0	SERPINB5	59321727	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.052000	0.76634	1.061000	0.40601	0.533000	0.62120	ATG		SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280629.1	NM_002639	
KCNG2	26251	hgsc.bcm.edu	37	18	77659494	77659494	+	Missense_Mutation	SNP	A	A	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr18:77659494A>C	ENST00000316249.3	+	2	1079	c.1079A>C	c.(1078-1080)tAt>tCt	p.Y360S	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	360					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCCGCCAGCTATTGGTGGGCC	0.711																																																	0			18											29.0	29.0	29.0					18																	77659494		2202	4298	6500	75760482	SO:0001583	missense	26251			AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.1079A>C	18.37:g.77659494A>C	ENSP00000315654:p.Tyr360Ser	Somatic		Capture	Illumina HiSeq	Phase_I	75760482		Missense_Mutation	SNP	ENST00000316249.3	37	CCDS12019.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.060287	0.76074	.	.	ENSG00000178342	ENST00000316249	D	0.98474	-4.95	3.31	3.31	0.37934	Ion transport (1);	0.000000	0.64402	U	0.000003	D	0.98292	0.9434	L	0.59912	1.85	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.98681	1.0692	10	0.87932	D	0	.	11.8902	0.52624	1.0:0.0:0.0:0.0	.	360	Q9UJ96	KCNG2_HUMAN	S	360	ENSP00000315654:Y360S	ENSP00000315654:Y360S	Y	+	2	0	KCNG2	75760482	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.977000	0.88081	1.391000	0.46566	0.333000	0.21579	TAT		KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283	
LMCD1	29995	hgsc.bcm.edu	37	3	8590294	8590294	+	Missense_Mutation	SNP	C	C	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr3:8590294C>G	ENST00000157600.3	+	4	660	c.428C>G	c.(427-429)cCa>cGa	p.P143R	LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000397386.3_Missense_Mutation_p.P31R|LMCD1_ENST00000535732.1_Missense_Mutation_p.P143R|LMCD1_ENST00000454244.1_Missense_Mutation_p.P70R	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	143	PET. {ECO:0000255|PROSITE- ProRule:PRU00636}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|regulation of cardiac muscle hypertrophy (GO:0010611)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		GAGAAGCAGCCAGTGACAGGC	0.577																																																	0			3											60.0	63.0	62.0					3																	8590294		2203	4300	6503	8565294	SO:0001583	missense	29995			AF169284	CCDS33688.1, CCDS63533.1, CCDS63534.1	3p26-p24	2008-07-18			ENSG00000071282	ENSG00000071282			6633	protein-coding gene	gene with protein product	"""dyxin"""	604859				10662546	Standard	NM_001278233		Approved		uc003bqq.4	Q9NZU5	OTTHUMG00000154971	ENST00000157600.3:c.428C>G	3.37:g.8590294C>G	ENSP00000157600:p.Pro143Arg	Somatic		Capture	Illumina HiSeq	Phase_I	8565294	B4DG80	Missense_Mutation	SNP	ENST00000157600.3	37	CCDS33688.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457880	0.84317	.	.	ENSG00000071282	ENST00000157600;ENST00000415597;ENST00000535732;ENST00000454244;ENST00000397386;ENST00000426878	D;D;D;D;D;D	0.96265	-3.96;-3.96;-3.96;-3.96;-3.96;-3.96	5.61	5.61	0.85477	PET domain (2);	0.000000	0.64402	D	0.000001	D	0.98607	0.9534	M	0.92219	3.285	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	0.99577	1.0972	10	0.87932	D	0	-19.7183	18.2109	0.89869	0.0:1.0:0.0:0.0	.	143;31;143	F5GX84;B4DEY6;Q9NZU5	.;.;LMCD1_HUMAN	R	143;149;143;70;31;100	ENSP00000157600:P143R;ENSP00000400555:P149R;ENSP00000441100:P143R;ENSP00000396515:P70R;ENSP00000380542:P31R;ENSP00000411222:P100R	ENSP00000157600:P143R	P	+	2	0	LMCD1	8565294	1.000000	0.71417	0.967000	0.41034	0.885000	0.51271	7.028000	0.76470	2.629000	0.89072	0.655000	0.94253	CCA		LMCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337854.1	NM_014583	
VHL	7428	hgsc.bcm.edu	37	3	10188272	10188272	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr3:10188272T>C	ENST00000256474.2	+	2	1255	c.415T>C	c.(415-417)Tct>Cct	p.S139P	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	139	Involved in binding to CCT complex.				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.P138fs*1(2)|p.S139fs*2(2)|p.S139fs*5(1)|p.L140fs*4(1)|p.L140fs*3(1)|p.S139fs*12(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		ATTTGTGCCATCTCTCAATGT	0.423		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	8	Deletion - Frameshift(6)|Complex - frameshift(1)|Insertion - Frameshift(1)	kidney(8)	3											220.0	203.0	209.0					3																	10188272		2203	4300	6503	10163272	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.415T>C	3.37:g.10188272T>C	ENSP00000256474:p.Ser139Pro	Somatic		Capture	Illumina HiSeq	Phase_I	10163272	B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	17.81	3.479919	0.63849	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99823	-6.95	5.07	2.18	0.27775	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.482216	0.21408	N	0.075030	D	0.98538	0.9512	N	0.08118	0	0.80722	D	1	D	0.55605	0.972	P	0.48552	0.581	D	0.97578	1.0109	10	0.44086	T	0.13	-7.2049	7.8748	0.29586	0.5151:0.0:0.0:0.4849	.	139	P40337	VHL_HUMAN	P	139;57	ENSP00000256474:S139P	ENSP00000256474:S139P	S	+	1	0	VHL	10163272	0.744000	0.28250	0.986000	0.45419	0.897000	0.52465	1.041000	0.30291	0.846000	0.35142	0.460000	0.39030	TCT		VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	
ZFYVE20	64145	hgsc.bcm.edu	37	3	15115811	15115811	+	Missense_Mutation	SNP	T	T	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr3:15115811T>A	ENST00000253699.3	-	14	2446	c.1833A>T	c.(1831-1833)ttA>ttT	p.L611F	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.L611F	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	611	Necessary for the interaction with EHD1.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						TGCTCTGGGGTAAGCGCTCCT	0.602																																																	0			3											54.0	57.0	56.0					3																	15115811		2203	4300	6503	15090815	SO:0001583	missense	64145			AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"""Zinc fingers, FYVE domain containing"""	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.1833A>T	3.37:g.15115811T>A	ENSP00000253699:p.Leu611Phe	Somatic		Capture	Illumina HiSeq	Phase_I	15090815	B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	ENST00000253699.3	37	CCDS2623.1	.	.	.	.	.	.	.	.	.	.	T	4.204	0.036522	0.08148	.	.	ENSG00000131381	ENST00000253699;ENST00000476527	T;T	0.53857	0.6;0.6	4.58	-4.72	0.03269	.	1.008340	0.07943	N	0.979544	T	0.35941	0.0949	L	0.47716	1.5	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29274	-1.0017	10	0.35671	T	0.21	2.8547	1.7225	0.02915	0.2518:0.3194:0.298:0.1309	.	611	Q9H1K0	RBNS5_HUMAN	F	611	ENSP00000253699:L611F;ENSP00000422551:L611F	ENSP00000253699:L611F	L	-	3	2	ZFYVE20	15090815	0.319000	0.24607	0.000000	0.03702	0.191000	0.23601	0.493000	0.22451	-0.683000	0.05190	0.402000	0.26972	TTA		ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340	
THRB	7068	hgsc.bcm.edu	37	3	24188296	24188296	+	Silent	SNP	G	G	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr3:24188296G>A	ENST00000356447.4	-	6	686	c.402C>T	c.(400-402)acC>acT	p.T134T	THRB_ENST00000280696.5_Silent_p.T149T|THRB_ENST00000416420.1_Silent_p.T134T|THRB_ENST00000396671.2_Silent_p.T134T	NM_000461.4|NM_001128177.1	NP_000452.2|NP_001121649.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	134					female courtship behavior (GO:0008050)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of female receptivity (GO:0007621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|sensory perception of sound (GO:0007605)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|Type I pneumocyte differentiation (GO:0060509)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TTTTCTGAATGGTTCTTCTAA	0.348																																					Melanoma(21;896 1043 15021 37958)												0			3											96.0	93.0	94.0					3																	24188296		2203	4300	6503	24163300	SO:0001819	synonymous_variant	7068				CCDS2641.1	3p24.2	2013-01-16	2011-05-19		ENSG00000151090	ENSG00000151090		"""Nuclear hormone receptors"""	11799	protein-coding gene	gene with protein product	"""avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2"", ""oncogene ERBA2"", ""generalized resistance to thyroid hormone"", ""thyroid hormone receptor beta 1"""	190160	"""thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2)"", ""pituitary resistance to thyroid hormone"", ""thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)"""	ERBA2, PRTH		1973914, 8040303	Standard	NM_000461		Approved	THRB1, THRB2, NR1A2, THR1, ERBA-BETA, GRTH	uc003ccy.4	P10828	OTTHUMG00000130478	ENST00000356447.4:c.402C>T	3.37:g.24188296G>A		Somatic		Capture	Illumina HiSeq	Phase_I	24163300	B3KU79|P37243|Q13986|Q3KP35|Q6WGL2|Q9UD41	Silent	SNP	ENST00000356447.4	37	CCDS2641.1																																																																																				THRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252877.3	NM_000461	
CTNNB1	1499	hgsc.bcm.edu	37	3	41267276	41267276	+	Missense_Mutation	SNP	A	A	G	rs35288908	byFrequency	TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr3:41267276A>G	ENST00000349496.5	+	6	1140	c.860A>G	c.(859-861)aAc>aGc	p.N287S	CTNNB1_ENST00000396183.3_Missense_Mutation_p.N287S|CTNNB1_ENST00000396185.3_Missense_Mutation_p.N287S|CTNNB1_ENST00000453024.1_Missense_Mutation_p.N280S|CTNNB1_ENST00000405570.1_Missense_Mutation_p.N287S	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	287					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.N287S(2)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		GCCTTGCTCAACAAAACAAAT	0.388		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)			Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	2	Substitution - Missense(2)	large_intestine(2)	3	GRCh37	CM043757	CTNNB1	M	rs35288908	A	SER/ASN,SER/ASN,SER/ASN	1,4405	2.1+/-5.4	0,1,2202	122.0	119.0	120.0		860,860,860	5.7	1.0	3	dbSNP_126	120	12,8588	8.4+/-32.0	0,12,4288	yes	missense,missense,missense	CTNNB1	NM_001098209.1,NM_001098210.1,NM_001904.3	46,46,46	0,13,6490	GG,GA,AA		0.1395,0.0227,0.1	benign,benign,benign	287/782,287/782,287/782	41267276	13,12993	2203	4300	6503	41242280	SO:0001583	missense	1499	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.860A>G	3.37:g.41267276A>G	ENSP00000344456:p.Asn287Ser	Somatic		Capture	Illumina HiSeq	Phase_I	41242280	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	A	10.51	1.370081	0.24771	2.27E-4	0.001395	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06	5.72	5.72	0.89469	Armadillo-like helical (1);Armadillo-type fold (1);	0.184600	0.56097	D	0.000034	T	0.37598	0.1009	N	0.02315	-0.6	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28933	-1.0028	10	0.20519	T	0.43	-1.1628	16.0129	0.80417	1.0:0.0:0.0:0.0	rs35288908	215;287	B4DSW9;P35222	.;CTNB1_HUMAN	S	287;287;287;280;287	ENSP00000385604:N287S;ENSP00000379486:N287S;ENSP00000344456:N287S;ENSP00000411226:N280S;ENSP00000379488:N287S	ENSP00000344456:N287S	N	+	2	0	CTNNB1	41242280	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.328000	0.65887	2.184000	0.69523	0.482000	0.46254	AAC		CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210	
KIF15	56992	hgsc.bcm.edu	37	3	44879835	44879835	+	Missense_Mutation	SNP	A	A	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr3:44879835A>T	ENST00000326047.4	+	27	3389	c.3240A>T	c.(3238-3240)aaA>aaT	p.K1080N	KIF15_ENST00000425755.1_Missense_Mutation_p.K715N	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1080					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)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AGGCCTCAAAAAAACACTCGG	0.502																																																	0			3											52.0	56.0	55.0					3																	44879835		2203	4300	6503	44854839	SO:0001583	missense	56992			AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.3240A>T	3.37:g.44879835A>T	ENSP00000324020:p.Lys1080Asn	Somatic		Capture	Illumina HiSeq	Phase_I	44854839	Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	ENST00000326047.4	37	CCDS33744.1	.	.	.	.	.	.	.	.	.	.	A	9.568	1.120391	0.20877	.	.	ENSG00000163808	ENST00000326047;ENST00000396031;ENST00000425755	T;T	0.50548	0.74;0.74	5.26	-8.96	0.00761	.	0.231088	0.29868	N	0.010990	T	0.18299	0.0439	N	0.08118	0	0.23371	N	0.997814	B	0.09022	0.002	B	0.04013	0.001	T	0.16719	-1.0393	10	0.18276	T	0.48	.	11.8968	0.52661	0.3408:0.1045:0.5546:0.0	.	1080	Q9NS87	KIF15_HUMAN	N	1080;1079;715	ENSP00000324020:K1080N;ENSP00000389982:K715N	ENSP00000324020:K1080N	K	+	3	2	KIF15	44854839	0.022000	0.18835	0.027000	0.17364	0.547000	0.35210	-0.971000	0.03806	-1.471000	0.01886	0.528000	0.53228	AAA		KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2		
ZMYND10	51364	hgsc.bcm.edu	37	3	50380427	50380427	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr3:50380427G>A	ENST00000231749.3	-	7	1894	c.622C>T	c.(622-624)Cgt>Tgt	p.R208C	RASSF1_ENST00000357043.2_5'Flank|ZMYND10_ENST00000490675.1_5'Flank|ZMYND10_ENST00000360165.3_Intron|RASSF1_ENST00000488024.1_5'Flank|RASSF1_ENST00000359365.4_5'Flank|ZMYND10-AS1_ENST00000440013.1_RNA	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	208					inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)	centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)	metal ion binding (GO:0046872)	p.R208C(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTAAGCATACGGCTCAAGGTG	0.637										TSP Lung(30;0.18)																																							1	Substitution - Missense(1)	lung(1)	3											146.0	133.0	137.0					3																	50380427		2203	4300	6503	50355431	SO:0001583	missense	51364			U70824	CCDS2825.1	3p21.3	2014-02-03			ENSG00000004838	ENSG00000004838		"""Zinc fingers, MYND-type"""	19412	protein-coding gene	gene with protein product		607070				12629521, 23891469	Standard	NM_015896		Approved	BLU, CILD22	uc003dag.1	O75800	OTTHUMG00000156874	ENST00000231749.3:c.622C>T	3.37:g.50380427G>A	ENSP00000231749:p.Arg208Cys	Somatic		Capture	Illumina HiSeq	Phase_I	50355431	A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6	Missense_Mutation	SNP	ENST00000231749.3	37	CCDS2825.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.216736	0.58452	.	.	ENSG00000004838	ENST00000231749;ENST00000442887	T;T	0.32272	1.46;1.46	5.55	3.69	0.42338	.	0.047666	0.85682	N	0.000000	T	0.34687	0.0906	M	0.85462	2.755	0.80722	D	1	B	0.33212	0.402	B	0.26202	0.067	T	0.38112	-0.9676	10	0.66056	D	0.02	-17.2735	9.9703	0.41749	0.0724:0.0:0.7903:0.1374	.	208	O75800	ZMY10_HUMAN	C	208;165	ENSP00000231749:R208C;ENSP00000393687:R165C	ENSP00000231749:R208C	R	-	1	0	ZMYND10	50355431	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.792000	0.62467	1.358000	0.45922	0.561000	0.74099	CGT		ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346376.1	NM_015896	
CACNA2D3	55799	hgsc.bcm.edu	37	3	55021780	55021780	+	Splice_Site	SNP	G	G	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr3:55021780G>A	ENST00000474759.1	+	31	2738	c.2690G>A	c.(2689-2691)aGa>aAa	p.R897K	CACNA2D3_ENST00000288197.5_Splice_Site_p.R897K|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000415676.2_Splice_Site_p.R897K|CACNA2D3_ENST00000490478.1_Splice_Site_p.R803K	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	897						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	TCCTTTAAAAGGTAAGGGTTT	0.428																																																	0			3											113.0	109.0	110.0					3																	55021780		1813	4072	5885	54996820	SO:0001630	splice_region_variant	55799			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.2690+1G>A	3.37:g.55021780G>A		Somatic		Capture	Illumina HiSeq	Phase_I	54996820	B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	ENST00000474759.1	37	CCDS54598.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151969	0.57151	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624	T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44	5.79	5.79	0.91817	.	0.096936	0.64402	D	0.000002	T	0.54711	0.1875	N	0.21282	0.65	0.43782	D	0.996311	B	0.11235	0.004	B	0.12837	0.008	T	0.47005	-0.9150	10	0.21540	T	0.41	.	18.2119	0.89873	0.0:0.0:1.0:0.0	.	897	Q8IZS8	CA2D3_HUMAN	K	897;897;897;803;803	ENSP00000389506:R897K;ENSP00000419101:R897K;ENSP00000288197:R897K;ENSP00000417279:R803K	ENSP00000288197:R897K	R	+	2	0	CACNA2D3	54996820	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.214000	0.89760	2.746000	0.94184	0.655000	0.94253	AGA		CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1		Missense_Mutation
CCDC66	285331	hgsc.bcm.edu	37	3	56651308	56651308	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr3:56651308A>G	ENST00000394672.3	+	14	2082	c.2012A>G	c.(2011-2013)gAa>gGa	p.E671G	CCDC66_ENST00000326595.7_Missense_Mutation_p.E637G|CCDC66_ENST00000436465.2_Missense_Mutation_p.E671G	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	671					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		GCCAGCTTAGAAAAAGAAAAC	0.363																																																	0			3											80.0	76.0	78.0					3																	56651308		2203	4300	6503	56626348	SO:0001583	missense	285331			AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.2012A>G	3.37:g.56651308A>G	ENSP00000378167:p.Glu671Gly	Somatic		Capture	Illumina HiSeq	Phase_I	56626348	B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	ENST00000394672.3	37	CCDS46852.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.990170	0.74589	.	.	ENSG00000180376	ENST00000422222;ENST00000394672;ENST00000326595;ENST00000436465	T;T;T;T	0.28255	1.62;1.68;1.68;1.68	6.03	4.85	0.62838	.	0.302729	0.32671	N	0.005798	T	0.22513	0.0543	L	0.52364	1.645	0.80722	D	1	B	0.20671	0.047	B	0.22386	0.039	T	0.07908	-1.0748	10	0.10111	T	0.7	-7.8178	4.9059	0.13799	0.7158:0.0:0.1393:0.1449	.	671	A2RUB6	CCD66_HUMAN	G	627;671;637;671	ENSP00000401451:E627G;ENSP00000378167:E671G;ENSP00000326050:E637G;ENSP00000404320:E671G	ENSP00000326050:E637G	E	+	2	0	CCDC66	56626348	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.671000	0.54576	1.067000	0.40740	0.533000	0.62120	GAA		CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506	
EPHA6	285220	hgsc.bcm.edu	37	3	96706206	96706206	+	Silent	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr3:96706206T>C	ENST00000389672.5	+	3	521	c.483T>C	c.(481-483)aaT>aaC	p.N161N	EPHA6_ENST00000542517.1_Silent_p.N67N|EPHA6_ENST00000470610.2_Silent_p.N161N	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	67	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						ATGAACATAATAGGCCCATTC	0.373																																																	0			3											103.0	99.0	100.0					3																	96706206		1873	4105	5978	98188896	SO:0001819	synonymous_variant	285220			AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.483T>C	3.37:g.96706206T>C		Somatic		Capture	Illumina HiSeq	Phase_I	98188896	D6RAL5	Silent	SNP	ENST00000389672.5	37	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	T	7.500	0.652483	0.14580	.	.	ENSG00000080224	ENST00000506569	.	.	.	5.74	-5.12	0.02893	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5163	0.90936	0.0:0.6431:0.0:0.3569	.	.	.	.	Q	106	.	.	X	+	1	0	EPHA6	98188896	0.987000	0.35691	0.881000	0.34555	0.955000	0.61496	0.248000	0.18198	-1.276000	0.02414	-0.250000	0.11733	TAG		EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448	
CCDC80	151887	hgsc.bcm.edu	37	3	112356986	112356986	+	Silent	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr3:112356986A>G	ENST00000206423.3	-	2	2720	c.1767T>C	c.(1765-1767)ggT>ggC	p.G589G	CCDC80_ENST00000439685.2_Silent_p.G589G|CCDC80_ENST00000475181.1_5'Flank	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	589	Lys-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GTTCTGTTTTACCTCCTtttt	0.443																																																	0			3											246.0	226.0	232.0					3																	112356986		2203	4300	6503	113839676	SO:0001819	synonymous_variant	151887			AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.1767T>C	3.37:g.112356986A>G		Somatic		Capture	Illumina HiSeq	Phase_I	113839676	D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Silent	SNP	ENST00000206423.3	37	CCDS2968.1																																																																																				CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511	
CD200R1L	344807	hgsc.bcm.edu	37	3	112546239	112546239	+	Silent	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr3:112546239A>G	ENST00000398214.1	-	3	630	c.405T>C	c.(403-405)caT>caC	p.H135H	CD200R1L_ENST00000488794.1_Silent_p.H114H|CD200R1L_ENST00000448932.1_Silent_p.H114H	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	135	Ig-like C2-type.					integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						GATATCCACGATGGAAATTCC	0.448																																																	0			3											119.0	115.0	117.0					3																	112546239		2203	4300	6503	114028929	SO:0001819	synonymous_variant	344807			AY284976	CCDS43131.1, CCDS56267.1	3q13.2	2014-05-15	2008-10-08		ENSG00000206531	ENSG00000206531		"""Immunoglobulin superfamily / C2-set domain containing"""	24665	protein-coding gene	gene with protein product	"""CD200 receptor 2"""						Standard	NM_001008784		Approved	CD200RLa, CD200R2	uc003dzi.1	Q6Q8B3	OTTHUMG00000159283	ENST00000398214.1:c.405T>C	3.37:g.112546239A>G		Somatic		Capture	Illumina HiSeq	Phase_I	114028929	Q6WHB7	Silent	SNP	ENST00000398214.1	37	CCDS43131.1																																																																																				CD200R1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354365.1	NM_001008784	
BOC	91653	hgsc.bcm.edu	37	3	113002345	113002345	+	Missense_Mutation	SNP	C	C	T	rs138348732	byFrequency	TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr3:113002345C>T	ENST00000495514.1	+	16	3223	c.2519C>T	c.(2518-2520)cCg>cTg	p.P840L	BOC_ENST00000273395.4_Missense_Mutation_p.P841L|BOC_ENST00000355385.3_Missense_Mutation_p.P840L			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	840					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)				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)			ATAGAGCGGCCGGTGGGCACT	0.622																																																	0			3											80.0	90.0	86.0					3																	113002345		2203	4299	6502	114485035	SO:0001583	missense	91653			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.2519C>T	3.37:g.113002345C>T	ENSP00000418663:p.Pro840Leu	Somatic		Capture	Illumina HiSeq	Phase_I	114485035	A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	CCDS2971.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	13.46	2.243354	0.39697	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.63255	-0.03;-0.02;-0.03	5.85	5.85	0.93711	.	0.220829	0.36519	N	0.002551	T	0.72590	0.3479	L	0.51422	1.61	0.48452	D	0.999658	D;P;P	0.71674	0.998;0.933;0.89	P;P;B	0.58780	0.845;0.529;0.329	T	0.69217	-0.5203	10	0.39692	T	0.17	.	20.1577	0.98120	0.0:1.0:0.0:0.0	.	657;841;840	Q9BWV1-2;Q9BWV1-3;Q9BWV1	.;.;BOC_HUMAN	L	840;841;840	ENSP00000418663:P840L;ENSP00000273395:P841L;ENSP00000347546:P840L	ENSP00000273395:P841L	P	+	2	0	BOC	114485035	0.988000	0.35896	0.895000	0.35142	0.112000	0.19704	4.960000	0.63673	2.767000	0.95098	0.655000	0.94253	CCG		BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254	
GOLGB1	2804	hgsc.bcm.edu	37	3	121409535	121409535	+	Silent	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr3:121409535T>C	ENST00000340645.5	-	14	8786	c.8661A>G	c.(8659-8661)caA>caG	p.Q2887Q	GOLGB1_ENST00000393667.3_Silent_p.Q2892Q	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2887					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTCTGTCATTTTGGAGTGAAG	0.373																																																	0			3											42.0	42.0	42.0					3																	121409535		2203	4300	6503	122892225	SO:0001819	synonymous_variant	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.8661A>G	3.37:g.121409535T>C		Somatic		Capture	Illumina HiSeq	Phase_I	122892225	B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	ENST00000340645.5	37	CCDS3004.1																																																																																				GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487	
COL6A6	131873	hgsc.bcm.edu	37	3	130282099	130282099	+	Silent	SNP	C	C	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr3:130282099C>T	ENST00000358511.6	+	2	283	c.252C>T	c.(250-252)ttC>ttT	p.F84F	COL6A6_ENST00000453409.2_Silent_p.F84F	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	84	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.F84L(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGAGCACCTTCAAAGGCAGGA	0.522																																																	1	Substitution - Missense(1)	ovary(1)	3											69.0	66.0	67.0					3																	130282099		1889	4104	5993	131764789	SO:0001819	synonymous_variant	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.252C>T	3.37:g.130282099C>T		Somatic		Capture	Illumina HiSeq	Phase_I	131764789	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	CCDS46911.1																																																																																				COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608	
TMEM108	66000	hgsc.bcm.edu	37	3	133098637	133098637	+	Missense_Mutation	SNP	G	G	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr3:133098637G>C	ENST00000321871.6	+	4	292	c.82G>C	c.(82-84)Gcc>Ccc	p.A28P	TMEM108_ENST00000393130.3_Missense_Mutation_p.A28P|TMEM108_ENST00000515826.1_Missense_Mutation_p.A28P|TMEM108_ENST00000508711.1_Intron	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	28						integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GCTGGCATTTGCCATCCAGGA	0.552																																																	0			3											282.0	295.0	290.0					3																	133098637		2203	4300	6503	134581327	SO:0001583	missense	66000			AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"""cancer/testis antigen 124"""					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.82G>C	3.37:g.133098637G>C	ENSP00000324651:p.Ala28Pro	Somatic		Capture	Illumina HiSeq	Phase_I	134581327	D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	ENST00000321871.6	37	CCDS33858.1	.	.	.	.	.	.	.	.	.	.	g	17.05	3.289988	0.59976	.	.	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000512137;ENST00000511555;ENST00000515826;ENST00000510183	T;T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06;0.06	4.26	4.26	0.50523	.	0.000000	0.36374	N	0.002637	T	0.72590	0.3479	L	0.51422	1.61	0.34030	D	0.653748	D;D	0.76494	0.999;0.999	D;D	0.76575	0.988;0.982	T	0.80843	-0.1201	10	0.62326	D	0.03	-11.0402	13.1129	0.59283	0.0:0.0:0.8289:0.1711	.	28;28	E9PB58;Q6UXF1	.;TM108_HUMAN	P	28	ENSP00000324651:A28P;ENSP00000376838:A28P;ENSP00000426301:A28P;ENSP00000422196:A28P;ENSP00000423338:A28P;ENSP00000421486:A28P	ENSP00000324651:A28P	A	+	1	0	TMEM108	134581327	1.000000	0.71417	0.842000	0.33263	0.970000	0.65996	3.321000	0.51999	2.104000	0.64026	0.556000	0.70494	GCC		TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356907.2	NM_023943	
RYK	6259	hgsc.bcm.edu	37	3	133921633	133921633	+	Silent	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr3:133921633T>C	ENST00000427044.2	-	7	763	c.153A>G	c.(151-153)gtA>gtG	p.V51V	RYK_ENST00000296084.4_Silent_p.V241V			P34925	RYK_HUMAN	receptor-like tyrosine kinase	240					axon guidance (GO:0007411)|corpus callosum development (GO:0022038)|neuron differentiation (GO:0030182)|neuron projection development (GO:0031175)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of MAPK cascade (GO:0043410)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			lung(1)|ovary(3)	4						ATATTATTGCTACGAGAAATA	0.348																																																	0			3											77.0	69.0	72.0					3																	133921633		1839	4099	5938	135404323	SO:0001819	synonymous_variant	6259			S59184	CCDS75016.1	3q22.1	2012-02-28	2012-02-28		ENSG00000163785	ENSG00000163785	2.7.10.1		10481	protein-coding gene	gene with protein product		600524	"""JTK5A protein tyrosine kinase"", ""RYK receptor-like tyrosine kinase"""	JTK5A		8386829	Standard	NM_001005861		Approved	D3S3195, RYK1, JTK5	uc003eqc.1	P34925	OTTHUMG00000159750	ENST00000427044.2:c.153A>G	3.37:g.133921633T>C		Somatic		Capture	Illumina HiSeq	Phase_I	135404323	Q04696	Missense_Mutation	SNP	ENST00000427044.2	37		.	.	.	.	.	.	.	.	.	.	T	9.924	1.212979	0.22289	.	.	ENSG00000163785	ENST00000460933	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.9057	10.6396	0.45586	0.0:0.0803:0.0:0.9197	.	.	.	.	W	223	.	.	X	-	2	0	RYK	135404323	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	0.627000	0.24506	2.170000	0.68504	0.455000	0.32223	TAG		RYK-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001005861	
TRIM42	287015	hgsc.bcm.edu	37	3	140401870	140401870	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr3:140401870G>A	ENST00000286349.3	+	2	1099	c.908G>A	c.(907-909)cGc>cAc	p.R303H		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	303						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GAGTACTGCCGCAATGACAAC	0.567																																																	0			3											245.0	209.0	221.0					3																	140401870		2203	4300	6503	141884560	SO:0001583	missense	287015			AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.908G>A	3.37:g.140401870G>A	ENSP00000286349:p.Arg303His	Somatic		Capture	Illumina HiSeq	Phase_I	141884560	A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033603	0.54896	.	.	ENSG00000155890	ENST00000286349	T	0.42900	0.96	5.31	4.43	0.53597	Zinc finger, B-box (2);	0.406836	0.21967	N	0.066515	T	0.29850	0.0746	N	0.19112	0.55	0.27364	N	0.95589	P	0.50710	0.938	P	0.45138	0.471	T	0.09015	-1.0694	10	0.33141	T	0.24	-30.2356	10.2685	0.43468	0.0942:0.0:0.9058:0.0	.	303	Q8IWZ5	TRI42_HUMAN	H	303	ENSP00000286349:R303H	ENSP00000286349:R303H	R	+	2	0	TRIM42	141884560	0.415000	0.25416	0.939000	0.37840	0.657000	0.38888	3.092000	0.50207	2.486000	0.83907	0.561000	0.74099	CGC		TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616	
SUCNR1	56670	hgsc.bcm.edu	37	3	151599123	151599123	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr3:151599123G>T	ENST00000362032.5	+	3	897	c.792G>T	c.(790-792)aaG>aaT	p.K264N	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	264						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	GGAGTTGGAAGCAGTATCAGT	0.468																																																	0			3											221.0	194.0	203.0					3																	151599123		2203	4300	6503	153081813	SO:0001583	missense	56670			AF348078	CCDS3162.1	3q25.1	2012-08-21	2004-07-08	2004-07-09	ENSG00000198829	ENSG00000198829		"""GPCR / Class A : Orphans"""	4542	protein-coding gene	gene with protein product		606381	"""G protein-coupled receptor 91"""	GPR91		11273702, 15141213, 17192395	Standard	NM_033050		Approved		uc003ezf.2	Q9BXA5	OTTHUMG00000159880	ENST00000362032.5:c.792G>T	3.37:g.151599123G>T	ENSP00000355156:p.Lys264Asn	Somatic		Capture	Illumina HiSeq	Phase_I	153081813	A8K305|Q8TDQ8	Missense_Mutation	SNP	ENST00000362032.5	37	CCDS3162.1	.	.	.	.	.	.	.	.	.	.	G	0.302	-0.973487	0.02215	.	.	ENSG00000198829	ENST00000362032	T	0.61158	0.13	5.46	0.0431	0.14220	GPCR, rhodopsin-like superfamily (1);	1.252330	0.05417	U	0.543447	T	0.33760	0.0874	N	0.16201	0.385	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.12477	-1.0546	10	0.16896	T	0.51	.	1.8767	0.03219	0.244:0.1853:0.444:0.1267	.	264	Q9BXA5	SUCR1_HUMAN	N	264	ENSP00000355156:K264N	ENSP00000355156:K264N	K	+	3	2	SUCNR1	153081813	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.650000	0.05378	0.058000	0.16222	0.650000	0.86243	AAG		SUCNR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357897.2	NM_033050	
GPR149	344758	hgsc.bcm.edu	37	3	154055525	154055525	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr3:154055525G>T	ENST00000389740.2	-	4	2258	c.2159C>A	c.(2158-2160)gCt>gAt	p.A720D		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	720					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A720V(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTTTCTGTAAGCTTTATTTAA	0.433																																																	1	Substitution - Missense(1)	ovary(1)	3											315.0	291.0	299.0					3																	154055525		1914	4119	6033	155538219	SO:0001583	missense	344758			AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.2159C>A	3.37:g.154055525G>T	ENSP00000374390:p.Ala720Asp	Somatic		Capture	Illumina HiSeq	Phase_I	155538219		Missense_Mutation	SNP	ENST00000389740.2	37	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163619	0.78226	.	.	ENSG00000174948	ENST00000389740	.	.	.	5.8	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.63651	0.2529	N	0.24115	0.695	0.58432	D	0.999999	D	0.89917	1.0	D	0.74674	0.984	T	0.68834	-0.5304	9	0.87932	D	0	-11.7316	14.7238	0.69329	0.0692:0.0:0.9308:0.0	.	720	Q86SP6	GP149_HUMAN	D	720	.	ENSP00000374390:A720D	A	-	2	0	GPR149	155538219	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.433000	0.66520	1.456000	0.47831	0.650000	0.86243	GCT		GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580	
PPM1L	151742	hgsc.bcm.edu	37	3	160786907	160786907	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr3:160786907G>T	ENST00000498165.1	+	4	1146	c.1045G>T	c.(1045-1047)Gtg>Ttg	p.V349L	PPM1L_ENST00000464260.1_Missense_Mutation_p.V170L|PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000295839.9_Missense_Mutation_p.V222L	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	349					MAPK cascade (GO:0000165)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			AGTCATGGTGGTGAAGTTCAG	0.443																																					Pancreas(86;250 1994 13715 43211)												0			3											44.0	44.0	44.0					3																	160786907		2203	4300	6503	162269601	SO:0001583	missense	151742			AK055115	CCDS33886.1	3q26.1	2012-04-17	2010-03-05		ENSG00000163590	ENSG00000163590	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	16381	protein-coding gene	gene with protein product	"""PP2Cepsilon"", ""Protein phosphatase 2C epsilon isoform"""	611931	"""protein phosphatase 1 (formerly 2C)-like"""			12556533	Standard	XM_006713507		Approved	PP2CE	uc003fdr.3	Q5SGD2	OTTHUMG00000159048	ENST00000498165.1:c.1045G>T	3.37:g.160786907G>T	ENSP00000417659:p.Val349Leu	Somatic		Capture	Illumina HiSeq	Phase_I	162269601	Q2M3J2|Q96NM7	Missense_Mutation	SNP	ENST00000498165.1	37	CCDS33886.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.802097	0.70682	.	.	ENSG00000163590	ENST00000498165;ENST00000464260;ENST00000295839	T;T;T	0.13901	2.55;2.55;2.55	5.14	5.14	0.70334	Protein phosphatase 2C-like (4);	0.000000	0.85682	D	0.000000	T	0.20047	0.0482	M	0.71871	2.18	0.80722	D	1	P;P	0.43750	0.811;0.816	B;B	0.38264	0.269;0.194	T	0.04900	-1.0919	10	0.87932	D	0	.	17.5985	0.88018	0.0:0.0:1.0:0.0	.	222;349	Q5SGD2-3;Q5SGD2	.;PPM1L_HUMAN	L	349;170;222	ENSP00000417659:V349L;ENSP00000420746:V170L;ENSP00000295839:V222L	ENSP00000295839:V222L	V	+	1	0	PPM1L	162269601	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.447000	0.97595	2.395000	0.81488	0.655000	0.94253	GTG		PPM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353019.1	NM_139245	
SKIL	6498	hgsc.bcm.edu	37	3	170110052	170110052	+	Silent	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr3:170110052A>G	ENST00000458537.3	+	6	2611	c.1902A>G	c.(1900-1902)gcA>gcG	p.A634A	SKIL_ENST00000259119.4_Silent_p.A634A|SKIL_ENST00000426052.2_Silent_p.A614A|SKIL_ENST00000413427.2_Silent_p.A588A	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	634					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CATAGTTGGCAGAACTGAGGC	0.363																																																	0			3											86.0	90.0	89.0					3																	170110052		2203	4300	6503	171592746	SO:0001819	synonymous_variant	6498			X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"""SKI transcriptional corepressors"""	10897	protein-coding gene	gene with protein product		165340	"""SKI-like oncogene"""			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.1902A>G	3.37:g.170110052A>G		Somatic		Capture	Illumina HiSeq	Phase_I	171592746	A6NGT1|B4DT50|O00464|P12756|Q07501	Silent	SNP	ENST00000458537.3	37	CCDS33890.1																																																																																				SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352351.4	NM_005414	
KCNMB2	10242	hgsc.bcm.edu	37	3	178560615	178560615	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr3:178560615C>T	ENST00000432997.1	+	5	950	c.598C>T	c.(598-600)Ctc>Ttc	p.L200F	RP11-385J1.2_ENST00000451742.1_RNA|RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000420517.2_Missense_Mutation_p.L200F|KCNMB2_ENST00000358316.3_Missense_Mutation_p.L200F|RP11-385J1.2_ENST00000432385.1_RNA|RP11-385J1.2_ENST00000425330.1_RNA|KCNMB2_ENST00000452583.1_Missense_Mutation_p.L200F	NM_001278911.1	NP_001265840.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	214					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)	p.L200V(1)		NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)		Miconazole(DB01110)|Procaine(DB00721)	GTTCCATTCACTCTTCTGGCC	0.468																																																	1	Substitution - Missense(1)	ovary(1)	3											91.0	87.0	88.0					3																	178560615		2203	4300	6503	180043309	SO:0001583	missense	27094			AF099137	CCDS3223.1	3q26.32	2005-10-13			ENSG00000197584	ENSG00000197584		"""Potassium channels"""	6286	protein-coding gene	gene with protein product		605214				10097176	Standard	NM_181361		Approved		uc003fjd.3	Q9Y691	OTTHUMG00000157264	ENST00000432997.1:c.598C>T	3.37:g.178560615C>T	ENSP00000407592:p.Leu200Phe	Somatic		Capture	Illumina HiSeq	Phase_I	180043309	B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Missense_Mutation	SNP	ENST00000432997.1	37	CCDS3223.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.980876	0.53827	.	.	ENSG00000197584	ENST00000420517;ENST00000452583;ENST00000432997;ENST00000358316;ENST00000457763	T;T;T;T	0.15256	2.44;2.44;2.44;2.44	6.17	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.29817	0.0745	L	0.36672	1.1	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.02064	-1.1220	10	0.34782	T	0.22	-15.6833	11.7155	0.51650	0.0:0.8656:0.0:0.1344	.	200	Q9Y691	KCMB2_HUMAN	F	200;200;200;200;181	ENSP00000408252:L200F;ENSP00000397483:L200F;ENSP00000407592:L200F;ENSP00000351068:L200F	ENSP00000351068:L200F	L	+	1	0	KCNMB2	180043309	0.992000	0.36948	0.997000	0.53966	0.981000	0.71138	2.928000	0.48908	1.627000	0.50400	0.655000	0.94253	CTC		KCNMB2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348251.1	NM_181361	
PIK3CA	5290	hgsc.bcm.edu	37	3	178916836	178916836	+	Missense_Mutation	SNP	C	C	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr3:178916836C>A	ENST00000263967.3	+	2	380	c.223C>A	c.(223-225)Caa>Aaa	p.Q75K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	75	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.Q75E(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AAGTGTTACTCAAGAAGCAGA	0.348		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1	Substitution - Missense(1)	central_nervous_system(1)	3											101.0	96.0	97.0					3																	178916836		1816	4084	5900	180399530	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.223C>A	3.37:g.178916836C>A	ENSP00000263967:p.Gln75Lys	Somatic		Capture	Illumina HiSeq	Phase_I	180399530	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.197211	0.58126	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.72942	-0.7;-0.7	5.44	5.44	0.79542	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	T	0.62514	0.2434	L	0.39898	1.24	0.80722	D	1	P	0.36086	0.536	B	0.31686	0.134	T	0.60850	-0.7181	9	.	.	.	-0.0534	19.2635	0.93977	0.0:1.0:0.0:0.0	.	75	P42336	PK3CA_HUMAN	K	75	ENSP00000263967:Q75K;ENSP00000417479:Q75K	.	Q	+	1	0	PIK3CA	180399530	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.436000	0.80404	2.547000	0.85894	0.555000	0.69702	CAA		PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
PIK3CA	5290	hgsc.bcm.edu	37	3	178916957	178916957	+	Missense_Mutation	SNP	G	G	C	rs200018596		TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr3:178916957G>C	ENST00000263967.3	+	2	501	c.344G>C	c.(343-345)cGa>cCa	p.R115P		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	115					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.R115L(3)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ATCCTCAATCGAGAAATTGGT	0.333		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	3	Substitution - Missense(3)	endometrium(2)|upper_aerodigestive_tract(1)	3											71.0	67.0	69.0					3																	178916957		1815	4070	5885	180399651	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.344G>C	3.37:g.178916957G>C	ENSP00000263967:p.Arg115Pro	Somatic		Capture	Illumina HiSeq	Phase_I	180399651	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.428354	0.62844	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.72725	0.92;-0.68	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.65217	0.2670	L	0.44542	1.39	0.80722	D	1	P	0.47841	0.901	B	0.39876	0.312	T	0.65442	-0.6167	9	.	.	.	-14.1086	19.4271	0.94746	0.0:0.0:1.0:0.0	.	115	P42336	PK3CA_HUMAN	P	115	ENSP00000263967:R115P;ENSP00000417479:R115P	.	R	+	2	0	PIK3CA	180399651	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.289000	0.96061	2.584000	0.87258	0.555000	0.69702	CGA		PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
PIK3CA	5290	hgsc.bcm.edu	37	3	178928081	178928081	+	Silent	SNP	A	A	G	rs397517200		TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr3:178928081A>G	ENST00000263967.3	+	8	1516	c.1359A>G	c.(1357-1359)gaA>gaG	p.E453E		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	453	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.		E -> Q (in CRC; likely involved in disease pathogenesis; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).|Missing (in MCAP). {ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H450fs*9(1)|p.G451_L456>V(1)|p.P449_L455del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ATGGATTAGAAGATTTGCTGA	0.348		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	3	Complex - frameshift(1)|Complex - deletion inframe(1)|Deletion - In frame(1)	endometrium(2)|breast(1)	3											136.0	129.0	131.0					3																	178928081		1828	4091	5919	180410775	SO:0001819	synonymous_variant	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1359A>G	3.37:g.178928081A>G		Somatic		Capture	Illumina HiSeq	Phase_I	180410775	Q14CW1|Q99762	Silent	SNP	ENST00000263967.3	37	CCDS43171.1																																																																																				PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
MCCC1	56922	hgsc.bcm.edu	37	3	182755018	182755018	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr3:182755018G>A	ENST00000265594.4	-	13	1728	c.1582C>T	c.(1582-1584)Ctt>Ttt	p.L528F	MCCC1_ENST00000489909.1_5'UTR|MCCC1_ENST00000492597.1_Missense_Mutation_p.L419F|MCCC1_ENST00000539926.1_Missense_Mutation_p.L393F	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	528					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)			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)	TGTGCCTGAAGAGTGAAAGTG	0.473																																																	0			3											107.0	90.0	96.0					3																	182755018		2203	4300	6503	184237712	SO:0001583	missense	56922			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.1582C>T	3.37:g.182755018G>A	ENSP00000265594:p.Leu528Phe	Somatic		Capture	Illumina HiSeq	Phase_I	184237712	Q59ES4|Q9H959|Q9NS97	Missense_Mutation	SNP	ENST00000265594.4	37	CCDS3241.1	.	.	.	.	.	.	.	.	.	.	G	0.433	-0.902620	0.02453	.	.	ENSG00000078070	ENST00000265594;ENST00000492597;ENST00000392616;ENST00000539926;ENST00000476176	D;D;D;D	0.95724	-3.79;-3.72;-3.57;-3.53	5.93	1.42	0.22433	.	0.514577	0.15064	U	0.282612	D	0.87309	0.6145	L	0.29908	0.895	0.09310	N	1	P;P;B	0.40266	0.71;0.71;0.002	B;B;B	0.30029	0.11;0.11;0.009	T	0.80656	-0.1285	10	0.45353	T	0.12	.	3.4677	0.07555	0.0868:0.1469:0.4103:0.356	.	481;419;528	E9PG35;E9PHF7;Q96RQ3	.;.;MCCA_HUMAN	F	528;419;378;393;481	ENSP00000265594:L528F;ENSP00000419898:L419F;ENSP00000441253:L393F;ENSP00000420433:L481F	ENSP00000265594:L528F	L	-	1	0	MCCC1	184237712	0.006000	0.16342	0.003000	0.11579	0.003000	0.03518	1.209000	0.32357	0.729000	0.32403	0.561000	0.74099	CTT		MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	NM_020166	
EIF2B5	8893	hgsc.bcm.edu	37	3	183860605	183860605	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr3:183860605A>G	ENST00000273783.3	+	11	1707	c.1585A>G	c.(1585-1587)Agt>Ggt	p.S529G	EIF2B5_ENST00000444495.1_Missense_Mutation_p.S529G	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	529					astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TGAAAGTGAAAGTGAGCAAAG	0.483																																																	0			3											38.0	42.0	41.0					3																	183860605		2203	4300	6503	185343299	SO:0001583	missense	8893			U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"""eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"""			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.1585A>G	3.37:g.183860605A>G	ENSP00000273783:p.Ser529Gly	Somatic		Capture	Illumina HiSeq	Phase_I	185343299	Q541Z1|Q96D04	Missense_Mutation	SNP	ENST00000273783.3	37	CCDS3252.1	.	.	.	.	.	.	.	.	.	.	a	15.21	2.767130	0.49574	.	.	ENSG00000145191	ENST00000273783;ENST00000444495;ENST00000544027	D;D	0.98164	-4.76;-4.73	5.89	4.72	0.59763	.	0.080417	0.85682	D	0.000000	D	0.97983	0.9336	M	0.65498	2.005	0.80722	D	1	P;D	0.60575	0.935;0.988	P;P	0.54759	0.559;0.76	D	0.97028	0.9748	10	0.39692	T	0.17	.	13.3526	0.60611	0.8684:0.1316:0.0:0.0	.	529;529	E9PC74;Q13144	.;EI2BE_HUMAN	G	529;529;285	ENSP00000273783:S529G;ENSP00000409142:S529G	ENSP00000273783:S529G	S	+	1	0	EIF2B5	185343299	1.000000	0.71417	0.996000	0.52242	0.923000	0.55619	8.691000	0.91279	1.038000	0.40049	0.459000	0.35465	AGT		EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1		
MAGEF1	64110	hgsc.bcm.edu	37	3	184428939	184428939	+	Missense_Mutation	SNP	A	A	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr3:184428939A>C	ENST00000317897.3	-	1	897	c.671T>G	c.(670-672)cTc>cGc	p.L224R		NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	224	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			CCTGTAACTGAGATATCGCTG	0.502																																																	0			3											62.0	70.0	67.0					3																	184428939		2203	4300	6503	185911633	SO:0001583	missense	64110			AF295378	CCDS3269.1	3q13	2008-02-05			ENSG00000177383	ENSG00000177383			29639	protein-coding gene	gene with protein product		609267				11313144	Standard	NM_022149		Approved		uc003fpa.3	Q9HAY2	OTTHUMG00000156712	ENST00000317897.3:c.671T>G	3.37:g.184428939A>C	ENSP00000315064:p.Leu224Arg	Somatic		Capture	Illumina HiSeq	Phase_I	185911633	Q9H215	Missense_Mutation	SNP	ENST00000317897.3	37	CCDS3269.1	.	.	.	.	.	.	.	.	.	.	A	15.90	2.968533	0.53614	.	.	ENSG00000177383	ENST00000317897	T	0.19806	2.12	4.65	4.65	0.58169	.	0.000000	0.64402	D	0.000003	T	0.55081	0.1898	H	0.94698	3.57	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57568	-0.7789	10	0.87932	D	0	.	10.6447	0.45613	1.0:0.0:0.0:0.0	.	224	Q9HAY2	MAGF1_HUMAN	R	224	ENSP00000315064:L224R	ENSP00000315064:L224R	L	-	2	0	MAGEF1	185911633	0.284000	0.24287	0.025000	0.17156	0.661000	0.39034	2.276000	0.43408	2.087000	0.62958	0.528000	0.53228	CTC		MAGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345417.1	NM_022149	
HRG	3273	hgsc.bcm.edu	37	3	186389431	186389431	+	Silent	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr3:186389431T>C	ENST00000232003.4	+	4	491	c.411T>C	c.(409-411)aaT>aaC	p.N137N		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	137	Cystatin 2.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)	p.N137K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CACTGGCCAATACCAAAGATA	0.433																																																	1	Substitution - Missense(1)	ovary(1)	3											94.0	93.0	93.0					3																	186389431		2203	4300	6503	187872125	SO:0001819	synonymous_variant	3273				CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.411T>C	3.37:g.186389431T>C		Somatic		Capture	Illumina HiSeq	Phase_I	187872125	B9EK35|D3DNU7	Silent	SNP	ENST00000232003.4	37	CCDS3280.1																																																																																				HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412	
RTP1	132112	hgsc.bcm.edu	37	3	186917742	186917742	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr3:186917742T>C	ENST00000312295.4	+	2	706	c.676T>C	c.(676-678)Tcg>Ccg	p.S226P	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	226					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CCCCACCAAGTCGCAGGACCA	0.627																																																	0			3											58.0	55.0	56.0					3																	186917742		2203	4300	6503	188400436	SO:0001583	missense	132112			BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"""Receptor transporter proteins"""	28580	protein-coding gene	gene with protein product	"""receptor transporting protein 1"", ""zinc finger, 3CxxC-type 1"""	609137	"""receptor transporter protein 1"""			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.676T>C	3.37:g.186917742T>C	ENSP00000311712:p.Ser226Pro	Somatic		Capture	Illumina HiSeq	Phase_I	188400436		Missense_Mutation	SNP	ENST00000312295.4	37	CCDS3287.2	.	.	.	.	.	.	.	.	.	.	T	8.903	0.956859	0.18507	.	.	ENSG00000175077	ENST00000312295	T	0.13778	2.56	5.74	2.88	0.33553	.	0.266250	0.32028	N	0.006696	T	0.03011	0.0089	N	0.01576	-0.805	0.22156	N	0.999324	B	0.02656	0.0	B	0.01281	0.0	T	0.44360	-0.9333	10	0.02654	T	1	.	3.4376	0.07452	0.1637:0.5635:0.1789:0.094	.	226	P59025	RTP1_HUMAN	P	226	ENSP00000311712:S226P	ENSP00000311712:S226P	S	+	1	0	RTP1	188400436	0.803000	0.28956	0.993000	0.49108	0.274000	0.26718	0.581000	0.23819	1.449000	0.47699	-0.132000	0.14878	TCG		RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2	NM_153708	
TP63	8626	hgsc.bcm.edu	37	3	189585724	189585724	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr3:189585724A>G	ENST00000264731.3	+	7	1074	c.985A>G	c.(985-987)Acc>Gcc	p.T329A	TP63_ENST00000392460.3_Missense_Mutation_p.T329A|TP63_ENST00000354600.5_Missense_Mutation_p.T235A|TP63_ENST00000392461.3_Missense_Mutation_p.T235A|TP63_ENST00000320472.5_Missense_Mutation_p.T329A|TP63_ENST00000382063.4_Missense_Mutation_p.T244A|TP63_ENST00000456148.1_Missense_Mutation_p.T235A|TP63_ENST00000449992.1_Missense_Mutation_p.T150A|TP63_ENST00000437221.1_Missense_Mutation_p.T235A|TP63_ENST00000440651.2_Missense_Mutation_p.T329A|TP63_ENST00000418709.2_Missense_Mutation_p.T329A|TP63_ENST00000392463.2_Missense_Mutation_p.T235A	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	329					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)	p.T329P(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TACTCTGGAAACCAGAGAGTA	0.403										HNSCC(45;0.13)																																							1	Substitution - Missense(1)	ovary(1)	3											76.0	70.0	72.0					3																	189585724		2203	4300	6503	191068418	SO:0001583	missense	8626			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.985A>G	3.37:g.189585724A>G	ENSP00000264731:p.Thr329Ala	Somatic		Capture	Illumina HiSeq	Phase_I	191068418	O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	A	15.85	2.953910	0.53293	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	D;D;D;D;D;D;D;D;D;D;D;D	0.99755	-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64	5.61	4.44	0.53790	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99354	0.9773	M	0.75615	2.305	0.80722	D	1	B;B;B;B;B;B;B;B;B;B	0.28055	0.033;0.033;0.166;0.016;0.033;0.044;0.019;0.089;0.199;0.044	B;B;B;B;B;B;B;B;B;B	0.40165	0.128;0.077;0.215;0.096;0.128;0.059;0.098;0.128;0.321;0.059	D	0.99947	1.1483	9	.	.	.	-3.4352	11.1089	0.48221	0.9262:0.0:0.0738:0.0	.	150;329;329;235;235;235;235;329;329;329	Q9H3D4-10;Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;.;P63_HUMAN;.	A	329;329;329;329;329;244;235;235;235;235;150;235	ENSP00000264731:T329A;ENSP00000407144:T329A;ENSP00000317510:T329A;ENSP00000376253:T329A;ENSP00000394337:T329A;ENSP00000371495:T244A;ENSP00000346614:T235A;ENSP00000392488:T235A;ENSP00000376256:T235A;ENSP00000376254:T235A;ENSP00000387839:T150A;ENSP00000389485:T235A	.	T	+	1	0	TP63	191068418	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.014000	0.64029	2.143000	0.66587	0.533000	0.62120	ACC		TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722	
FOXM1	2305	hgsc.bcm.edu	37	12	2968475	2968475	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr12:2968475T>C	ENST00000359843.3	-	9	1689	c.1621A>G	c.(1621-1623)Agg>Ggg	p.R541G	ITFG2_ENST00000545509.1_Intron|Y_RNA_ENST00000410561.1_RNA|AC005841.1_ENST00000382678.3_5'Flank|FOXM1_ENST00000361953.3_Missense_Mutation_p.R526G|FOXM1_ENST00000342628.2_Missense_Mutation_p.R579G	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	541					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|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 double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GACCGGCTCCTCTCCCTCCTC	0.592																																																	0			12											62.0	62.0	62.0					12																	2968475		2203	4300	6503	2838736	SO:0001583	missense	2305			Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.1621A>G	12.37:g.2968475T>C	ENSP00000352901:p.Arg541Gly	Somatic		Capture	Illumina HiSeq	Phase_I	2838736	O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Missense_Mutation	SNP	ENST00000359843.3	37	CCDS8515.1	.	.	.	.	.	.	.	.	.	.	T	6.313	0.425871	0.11987	.	.	ENSG00000111206	ENST00000342628;ENST00000361953;ENST00000359843	D;D;D	0.92545	-2.98;-3.06;-2.98	4.45	0.505	0.16953	.	1.175620	0.05901	N	0.629976	D	0.82609	0.5074	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.29571	0.036;0.0;0.0;0.0;0.249	B;B;B;B;B	0.31869	0.04;0.001;0.002;0.001;0.137	T	0.73190	-0.4061	10	0.54805	T	0.06	.	4.4804	0.11764	0.0:0.1866:0.3235:0.4899	.	525;541;526;541;579	A8K591;Q53Y49;Q08050-2;Q08050;Q08050-3	.;.;.;FOXM1_HUMAN;.	G	579;526;541	ENSP00000342307:R579G;ENSP00000354492:R526G;ENSP00000352901:R541G	ENSP00000342307:R579G	R	-	1	2	FOXM1	2838736	0.002000	0.14202	0.893000	0.35052	0.924000	0.55760	0.333000	0.19768	0.005000	0.14708	0.459000	0.35465	AGG		FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953	
TSPAN9	10867	hgsc.bcm.edu	37	12	3310386	3310386	+	Missense_Mutation	SNP	G	G	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr12:3310386G>C	ENST00000011898.5	+	3	188	c.27G>C	c.(25-27)ttG>ttC	p.L9F	TSPAN9_ENST00000537971.1_Missense_Mutation_p.L9F|TSPAN9_ENST00000407263.1_Missense_Mutation_p.L9F	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	9						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			TCTGCTGCTTGAAGTACATGA	0.488																																																	0			12											356.0	269.0	298.0					12																	3310386		2203	4300	6503	3180647	SO:0001583	missense	10867			AF089749	CCDS8520.1	12p13.33-p13.32	2013-02-14			ENSG00000011105	ENSG00000011105		"""Tetraspanins"""	21640	protein-coding gene	gene with protein product		613137				10719184, 11739647	Standard	NM_006675		Approved	NET-5	uc021qtd.1	O75954	OTTHUMG00000150333	ENST00000011898.5:c.27G>C	12.37:g.3310386G>C	ENSP00000011898:p.Leu9Phe	Somatic		Capture	Illumina HiSeq	Phase_I	3180647	D3DUQ7|Q53FV2|Q6FGJ8	Missense_Mutation	SNP	ENST00000011898.5	37	CCDS8520.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543715	0.65198	.	.	ENSG00000011105	ENST00000537971;ENST00000011898;ENST00000407263	D;D;D	0.81996	-1.56;-1.56;-1.56	5.08	3.1	0.35709	.	0.808779	0.10941	N	0.617264	D	0.83138	0.5189	L	0.45581	1.43	0.41594	D	0.988813	B	0.23185	0.081	B	0.38655	0.278	T	0.79780	-0.1659	10	0.72032	D	0.01	.	12.8103	0.57635	0.0:0.3144:0.6856:0.0	.	9	O75954	TSN9_HUMAN	F	9	ENSP00000444799:L9F;ENSP00000011898:L9F;ENSP00000384488:L9F	ENSP00000011898:L9F	L	+	3	2	TSPAN9	3180647	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.277000	0.51654	1.114000	0.41781	0.561000	0.74099	TTG		TSPAN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317606.2	NM_006675	
GRIN2B	2904	hgsc.bcm.edu	37	12	13722836	13722836	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr12:13722836C>T	ENST00000609686.1	-	11	2496	c.2287G>A	c.(2287-2289)Ggc>Agc	p.G763S		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	763					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATGGCAATGCCATAGCCAGTG	0.512																																																	0			12											80.0	65.0	70.0					12																	13722836		2203	4300	6503	13614103	SO:0001583	missense	2904				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2287G>A	12.37:g.13722836C>T	ENSP00000477455:p.Gly763Ser	Somatic		Capture	Illumina HiSeq	Phase_I	13614103	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	36	5.640786	0.96693	.	.	ENSG00000150086	ENST00000279593	T	0.59638	0.25	5.55	5.55	0.83447	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.056868	0.64402	D	0.000001	T	0.81894	0.4919	M	0.92268	3.29	0.80722	D	1	D	0.60160	0.987	D	0.66196	0.942	D	0.86128	0.1573	10	0.87932	D	0	.	19.5042	0.95108	0.0:1.0:0.0:0.0	.	763	Q13224	NMDE2_HUMAN	S	763	ENSP00000279593:G763S	ENSP00000279593:G763S	G	-	1	0	GRIN2B	13614103	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.771000	0.85420	2.590000	0.87494	0.655000	0.94253	GGC		GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2		
SLCO1B1	10599	hgsc.bcm.edu	37	12	21353504	21353504	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr12:21353504A>G	ENST00000256958.2	+	9	1129	c.1033A>G	c.(1033-1035)Acg>Gcg	p.T345A		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	345					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	TGTGCTTTTGACGTTGTTACA	0.323																																																	0			12											116.0	105.0	109.0					12																	21353504		2203	4299	6502	21244771	SO:0001583	missense	10599				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1033A>G	12.37:g.21353504A>G	ENSP00000256958:p.Thr345Ala	Somatic		Capture	Illumina HiSeq	Phase_I	21244771	B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	A	8.881	0.951601	0.18431	.	.	ENSG00000134538	ENST00000256958	T	0.57907	0.37	3.34	-1.18	0.09617	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.896444	0.09749	N	0.760806	T	0.36908	0.0984	L	0.42581	1.335	0.09310	N	1	B	0.21071	0.051	B	0.28305	0.088	T	0.33189	-0.9878	10	0.24483	T	0.36	.	0.5125	0.00597	0.3332:0.187:0.1156:0.3643	.	345	Q9Y6L6	SO1B1_HUMAN	A	345	ENSP00000256958:T345A	ENSP00000256958:T345A	T	+	1	0	SLCO1B1	21244771	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.255000	0.08769	0.021000	0.15133	0.402000	0.26972	ACG		SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446	
KRAS	3845	hgsc.bcm.edu	37	12	25380236	25380236	+	Silent	SNP	A	A	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr12:25380236A>T	ENST00000256078.4	-	3	285	c.222T>A	c.(220-222)acT>acA	p.T74T	KRAS_ENST00000557334.1_Intron|AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000311936.3_Silent_p.T74T	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	74					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)		UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			AGCCCTCCCCAGTCCTCATGT	0.388		119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	0			12											112.0	104.0	107.0					12																	25380236		2203	4300	6503	25271503	SO:0001819	synonymous_variant	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.222T>A	12.37:g.25380236A>T		Somatic		Capture	Illumina HiSeq	Phase_I	25271503	A8K8Z5|B0LPF9|P01118|Q96D10	Silent	SNP	ENST00000256078.4	37	CCDS8703.1																																																																																				KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
OVCH1	341350	hgsc.bcm.edu	37	12	29648367	29648367	+	Missense_Mutation	SNP	A	A	G	rs111993736	byFrequency	TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr12:29648367A>G	ENST00000318184.5	-	4	304	c.305T>C	c.(304-306)gTg>gCg	p.V102A		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	102	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.V102A(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CCCAGAAGTCACAGTTATATT	0.363													A|||	24	0.00479233	0.0174	0.0014	5008	,	,		17837	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	ovary(1)	12						A	ALA/VAL	47,3599		0,47,1776	77.0	71.0	73.0		305	2.9	0.5	12	dbSNP_132	73	0,8170		0,0,4085	yes	missense	OVCH1	NM_183378.2	64	0,47,5861	GG,GA,AA		0.0,1.2891,0.3978	possibly-damaging	102/1135	29648367	47,11769	1823	4085	5908	29539634	SO:0001583	missense	341350			BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.305T>C	12.37:g.29648367A>G	ENSP00000326708:p.Val102Ala	Somatic		Capture	Illumina HiSeq	Phase_I	29539634		Missense_Mutation	SNP	ENST00000318184.5	37		9	0.004120879120879121	9	0.018292682926829267	0	0.0	0	0.0	0	0.0	A	9.768	1.172009	0.21704	0.012891	0.0	ENSG00000187950	ENST00000318184	D	0.96136	-3.92	2.89	2.89	0.33648	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.84938	0.5583	L	0.41124	1.26	0.09310	N	1	P	0.40731	0.728	B	0.41619	0.361	T	0.79487	-0.1783	9	0.20519	T	0.43	.	4.74	0.13008	0.8579:0.0:0.1421:0.0	.	102	Q7RTY7	OVCH1_HUMAN	A	102	ENSP00000326708:V102A	ENSP00000326708:V102A	V	-	2	0	OVCH1	29539634	0.972000	0.33761	0.481000	0.27354	0.053000	0.15095	3.778000	0.55371	1.569000	0.49696	0.533000	0.62120	GTG		OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378	
ALG10B	144245	hgsc.bcm.edu	37	12	38714221	38714221	+	Missense_Mutation	SNP	A	A	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr12:38714221A>C	ENST00000308742.4	+	3	944	c.628A>C	c.(628-630)Aaa>Caa	p.K210Q	ALG10B_ENST00000551464.1_Intron|AC117372.1_ENST00000401168.2_RNA	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	210					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				TGAGGCTTGGAAAACTGAGCT	0.398																																																	0			12											135.0	138.0	137.0					12																	38714221		2203	4299	6502	37000488	SO:0001583	missense	144245			AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"""potassium channel regulator 1"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""		"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"""				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.628A>C	12.37:g.38714221A>C	ENSP00000310120:p.Lys210Gln	Somatic		Capture	Illumina HiSeq	Phase_I	37000488	B2RPF4	Missense_Mutation	SNP	ENST00000308742.4	37	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	N	15.13	2.740948	0.49151	.	.	ENSG00000175548	ENST00000308742	T	0.55234	0.53	3.24	3.24	0.37175	.	0.139110	0.64402	D	0.000005	T	0.56659	0.2000	M	0.64567	1.98	0.80722	D	1	P	0.51537	0.946	P	0.53062	0.717	T	0.53669	-0.8406	10	0.24483	T	0.36	.	10.1623	0.42860	1.0:0.0:0.0:0.0	.	210	Q5I7T1	AG10B_HUMAN	Q	210	ENSP00000310120:K210Q	ENSP00000310120:K210Q	K	+	1	0	ALG10B	37000488	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	5.419000	0.66435	1.719000	0.51432	0.448000	0.29417	AAA		ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620	
KMT2D	8085	hgsc.bcm.edu	37	12	49433711	49433711	+	Silent	SNP	C	C	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr12:49433711C>T	ENST00000301067.7	-	31	7841	c.7842G>A	c.(7840-7842)tcG>tcA	p.S2614S	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2614	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GTGGCAGAACCGACGGAGGGC	0.652																																																	0			12											42.0	46.0	45.0					12																	49433711		2012	4175	6187	47719978	SO:0001819	synonymous_variant	9757			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.7842G>A	12.37:g.49433711C>T		Somatic		Capture	Illumina HiSeq	Phase_I	47719978	O14687	Silent	SNP	ENST00000301067.7	37	CCDS44873.1																																																																																				KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		
OR6C6	283365	hgsc.bcm.edu	37	12	55688511	55688511	+	Missense_Mutation	SNP	G	G	C	rs192785175	byFrequency	TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr12:55688511G>C	ENST00000358433.2	-	1	505	c.506C>G	c.(505-507)tCc>tGc	p.S169C		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AATAGTTTTGGAAGCACAAAA	0.413																																																	0			12											92.0	88.0	89.0					12																	55688511		2203	4300	6503	53974778	SO:0001583	missense	283365				CCDS31817.1	12q13.13	2012-08-09			ENSG00000188324	ENSG00000188324		"""GPCR / Class A : Olfactory receptors"""	31293	protein-coding gene	gene with protein product							Standard	NM_001005493		Approved		uc010sph.2	A6NF89	OTTHUMG00000168101	ENST00000358433.2:c.506C>G	12.37:g.55688511G>C	ENSP00000351211:p.Ser169Cys	Somatic		Capture	Illumina HiSeq	Phase_I	53974778		Missense_Mutation	SNP	ENST00000358433.2	37	CCDS31817.1	.	.	.	.	.	.	.	.	.	.	-	12.92	2.081605	0.36758	.	.	ENSG00000188324	ENST00000358433	T	0.00421	7.46	4.24	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000096	T	0.01558	0.0050	M	0.91300	3.195	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.12116	-1.0560	10	0.87932	D	0	.	13.0818	0.59117	0.0:0.2106:0.7894:0.0	.	169	A6NF89	OR6C6_HUMAN	C	169	ENSP00000351211:S169C	ENSP00000351211:S169C	S	-	2	0	OR6C6	53974778	0.012000	0.17670	0.926000	0.36857	0.751000	0.42716	1.446000	0.35090	2.359000	0.80004	0.580000	0.79431	TCC		OR6C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398151.1		
OR6C3	254786	hgsc.bcm.edu	37	12	55725539	55725539	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr12:55725539G>T	ENST00000379667.1	+	1	55	c.55G>T	c.(55-57)Gac>Tac	p.D19Y		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	19					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)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TGATGATCCTGACCTTCAGAT	0.413																																																	0			12											142.0	148.0	146.0					12																	55725539		2203	4300	6503	54011806	SO:0001583	missense	254786			AF179770	CCDS31819.1	12q13.2	2013-09-23			ENSG00000205329	ENSG00000205329		"""GPCR / Class A : Olfactory receptors"""	15437	protein-coding gene	gene with protein product							Standard	NM_054104		Approved	OST709	uc010spj.2	Q9NZP0	OTTHUMG00000169861	ENST00000379667.1:c.55G>T	12.37:g.55725539G>T	ENSP00000368989:p.Asp19Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	54011806		Missense_Mutation	SNP	ENST00000379667.1	37	CCDS31819.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380195	0.42207	.	.	ENSG00000205329	ENST00000379667	T	0.00448	7.38	4.98	-4.93	0.03066	.	0.843533	0.10066	N	0.720291	T	0.00356	0.0011	L	0.46947	1.48	0.09310	N	1	B	0.22346	0.068	B	0.28385	0.089	T	0.30534	-0.9975	10	0.87932	D	0	.	11.3174	0.49401	0.2004:0.54:0.2595:0.0	.	19	Q9NZP0	OR6C3_HUMAN	Y	19	ENSP00000368989:D19Y	ENSP00000368989:D19Y	D	+	1	0	OR6C3	54011806	0.000000	0.05858	0.000000	0.03702	0.243000	0.25628	-1.090000	0.03372	-0.730000	0.04869	0.586000	0.80456	GAC		OR6C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406309.1		
MARS	4141	hgsc.bcm.edu	37	12	57898052	57898052	+	Silent	SNP	G	G	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr12:57898052G>A	ENST00000262027.5	+	11	1472	c.1338G>A	c.(1336-1338)tcG>tcA	p.S446S	MARS_ENST00000447721.2_3'UTR|MARS_ENST00000315473.5_Silent_p.S212S	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	446					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TGGTGCAGTCGAGCCAGCACC	0.542																																																	0			12											134.0	125.0	128.0					12																	57898052		2203	4300	6503	56184319	SO:0001819	synonymous_variant	4141			X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.1338G>A	12.37:g.57898052G>A		Somatic		Capture	Illumina HiSeq	Phase_I	56184319	B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Silent	SNP	ENST00000262027.5	37	CCDS8942.1																																																																																				MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990	
PPFIA2	8499	hgsc.bcm.edu	37	12	81799574	81799574	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr12:81799574G>T	ENST00000549396.1	-	8	914	c.754C>A	c.(754-756)Cat>Aat	p.H252N	PPFIA2_ENST00000407050.4_Missense_Mutation_p.H178N|PPFIA2_ENST00000550584.2_Missense_Mutation_p.H252N|PPFIA2_ENST00000443686.3_Missense_Mutation_p.H153N|RP11-315E17.1_ENST00000546936.1_RNA|PPFIA2_ENST00000333447.7_Missense_Mutation_p.H234N|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000548586.1_Missense_Mutation_p.H252N|PPFIA2_ENST00000552948.1_Missense_Mutation_p.H252N|PPFIA2_ENST00000549325.1_Missense_Mutation_p.H234N|PPFIA2_ENST00000550359.2_Missense_Mutation_p.H99N	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	252	Glu-rich.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.H252N(3)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ACCTTCTCATGGACTTTCTGT	0.373																																																	3	Substitution - Missense(3)	lung(3)	12											100.0	93.0	95.0					12																	81799574		1917	4119	6036	80323705	SO:0001583	missense	8499			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.754C>A	12.37:g.81799574G>T	ENSP00000450337:p.His252Asn	Somatic		Capture	Illumina HiSeq	Phase_I	80323705	B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	G	8.852	0.944745	0.18356	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	T;T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.62;1.3	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.25975	0.0633	N	0.19112	0.55	0.80722	D	1	B;B	0.24721	0.11;0.016	B;B	0.24848	0.056;0.011	T	0.06058	-1.0848	10	0.14656	T	0.56	-16.3209	17.7666	0.88480	0.0:0.0:1.0:0.0	.	152;252	B7Z4H8;O75334	.;LIPA2_HUMAN	N	252;234;178;263;234;252;153;252	ENSP00000450337:H252N;ENSP00000450298:H234N;ENSP00000385093:H178N;ENSP00000327416:H234N;ENSP00000449338:H252N;ENSP00000388373:H153N;ENSP00000447868:H252N	ENSP00000327416:H234N	H	-	1	0	PPFIA2	80323705	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.731000	0.84895	2.565000	0.86533	0.557000	0.71058	CAT		PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1		
CEP290	80184	hgsc.bcm.edu	37	12	88474162	88474162	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr12:88474162T>C	ENST00000552810.1	-	38	5366	c.5023A>G	c.(5023-5025)Aac>Gac	p.N1675D	CEP290_ENST00000547691.2_Missense_Mutation_p.N735D|CEP290_ENST00000397838.3_Missense_Mutation_p.N735D|CEP290_ENST00000309041.7_Missense_Mutation_p.N1677D	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1675					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TCTTCATGGTTTTCTTGAAGC	0.363																																																	0			12											108.0	97.0	100.0					12																	88474162		1818	4077	5895	86998293	SO:0001583	missense	80184			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.5023A>G	12.37:g.88474162T>C	ENSP00000448012:p.Asn1675Asp	Somatic		Capture	Illumina HiSeq	Phase_I	86998293	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	T	6.754	0.507937	0.12883	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92	4.35	4.35	0.52113	.	0.424145	0.27420	N	0.019448	D	0.84669	0.5523	N	0.24115	0.695	0.26288	N	0.978165	B	0.21309	0.054	B	0.20384	0.029	T	0.67879	-0.5556	10	0.11485	T	0.65	.	13.8052	0.63225	0.0:0.0:0.0:1.0	.	1675	O15078	CE290_HUMAN	D	735;1675;1677;735	ENSP00000446905:N735D;ENSP00000448012:N1675D;ENSP00000308021:N1677D;ENSP00000380938:N735D	ENSP00000308021:N1677D	N	-	1	0	CEP290	86998293	1.000000	0.71417	1.000000	0.80357	0.316000	0.28119	2.451000	0.44952	1.731000	0.51592	0.377000	0.23210	AAC		CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114	
APAF1	317	hgsc.bcm.edu	37	12	99043328	99043328	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr12:99043328A>G	ENST00000551964.1	+	4	1128	c.392A>G	c.(391-393)aAg>aGg	p.K131R	APAF1_ENST00000339433.3_Missense_Mutation_p.K131R|APAF1_ENST00000552268.1_Missense_Mutation_p.K131R|APAF1_ENST00000547045.1_Missense_Mutation_p.K131R|APAF1_ENST00000549007.1_Missense_Mutation_p.K131R|APAF1_ENST00000333991.1_Missense_Mutation_p.K131R|APAF1_ENST00000550527.1_Missense_Mutation_p.K120R|APAF1_ENST00000357310.1_Missense_Mutation_p.K131R|APAF1_ENST00000359972.2_Missense_Mutation_p.K120R	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	131	NB-ARC.				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.K131M(1)		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)	ACAAGGAAGAAGCTGGTGAAT	0.438																																																	1	Substitution - Missense(1)	lung(1)	12											128.0	120.0	122.0					12																	99043328		2203	4300	6503	97567459	SO:0001583	missense	317			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.392A>G	12.37:g.99043328A>G	ENSP00000448165:p.Lys131Arg	Somatic		Capture	Illumina HiSeq	Phase_I	97567459	B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	37	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	A	11.42	1.634508	0.29068	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000333991;ENST00000552268;ENST00000550527;ENST00000547045;ENST00000549007	T;T;T;T;T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09	5.55	5.55	0.83447	NB-ARC (1);	0.183845	0.64402	D	0.000019	T	0.72120	0.3421	L	0.36672	1.1	0.42714	D	0.993655	B;B;B;B;B	0.24317	0.017;0.09;0.007;0.096;0.101	B;B;B;B;B	0.32022	0.022;0.139;0.012;0.061;0.018	T	0.67821	-0.5571	10	0.27785	T	0.31	-13.726	15.676	0.77321	1.0:0.0:0.0:0.0	.	131;131;120;131;120	O14727-6;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	R	131;120;131;131;131;131;120;131;131	ENSP00000448165:K131R;ENSP00000353059:K120R;ENSP00000349862:K131R;ENSP00000341830:K131R;ENSP00000334558:K131R;ENSP00000448826:K131R;ENSP00000448449:K120R;ENSP00000449791:K131R;ENSP00000448161:K131R	ENSP00000334558:K131R	K	+	2	0	APAF1	97567459	1.000000	0.71417	1.000000	0.80357	0.211000	0.24417	5.715000	0.68430	2.109000	0.64355	0.533000	0.62120	AAG		APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1	
SCYL2	55681	hgsc.bcm.edu	37	12	100732736	100732736	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr12:100732736A>G	ENST00000360820.2	+	18	3013	c.2576A>G	c.(2575-2577)cAg>cGg	p.Q859R		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	859	Necessary for interaction with AP2 complex and clathrin, interaction with clathrin is necessary for its targeting to the TGN and endosomal membranes.				endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TTATCACAACAGAAACCAAAT	0.443																																																	0			12											167.0	167.0	167.0					12																	100732736		2203	4300	6503	99256867	SO:0001583	missense	55681			AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.2576A>G	12.37:g.100732736A>G	ENSP00000354061:p.Gln859Arg	Somatic		Capture	Illumina HiSeq	Phase_I	99256867	A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	ENST00000360820.2	37	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	A	12.66	2.003637	0.35320	.	.	ENSG00000136021	ENST00000360820	T	0.29655	1.56	5.86	5.86	0.93980	.	0.385285	0.32459	N	0.006074	T	0.24122	0.0584	L	0.29908	0.895	0.38648	D	0.951784	B	0.30406	0.278	B	0.27887	0.084	T	0.08827	-1.0703	10	0.21540	T	0.41	-7.3003	16.5602	0.84551	1.0:0.0:0.0:0.0	.	859	Q6P3W7	SCYL2_HUMAN	R	859	ENSP00000354061:Q859R	ENSP00000354061:Q859R	Q	+	2	0	SCYL2	99256867	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	3.664000	0.54525	2.367000	0.80283	0.528000	0.53228	CAG		SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988	
PTPN11	5781	hgsc.bcm.edu	37	12	112888211	112888211	+	Missense_Mutation	SNP	A	A	G	rs121918465		TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr12:112888211A>G	ENST00000351677.2	+	3	425	c.227A>G	c.(226-228)gAg>gGg	p.E76G	PTPN11_ENST00000392597.1_Missense_Mutation_p.E76G	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	76	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.		E -> A (in JMML; also in myelodysplastic syndrome). {ECO:0000269|PubMed:12717436}.|E -> D (in NS1). {ECO:0000269|PubMed:11704759, ECO:0000269|PubMed:11992261, ECO:0000269|PubMed:12634870}.|E -> G (in JMML). {ECO:0000269|PubMed:12717436}.|E -> K (in JMML; dbSNP:rs28933388). {ECO:0000269|PubMed:12717436}.|E -> V (in JMML). {ECO:0000269|PubMed:12717436}.		abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)	p.E76G(29)|p.E76V(7)|p.E76A(7)|p.E76M(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						ACTTTGGCTGAGTTGGTCCAG	0.418			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome																															Dom	yes		12	12q24.1	5781	"""protein tyrosine phosphatase, non-receptor type 11"""	yes	L	44	Substitution - Missense(44)	haematopoietic_and_lymphoid_tissue(44)	12											149.0	137.0	141.0					12																	112888211		2203	4300	6503	111372594	SO:0001583	missense	5781	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9644	protein-coding gene	gene with protein product		176876	"""Noonan syndrome 1"""	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.227A>G	12.37:g.112888211A>G	ENSP00000340944:p.Glu76Gly	Somatic		Capture	Illumina HiSeq	Phase_I	111372594	A8K1D9|Q96HD7	Missense_Mutation	SNP	ENST00000351677.2	37	CCDS9163.1	.	.	.	.	.	.	.	.	.	.	A	33	5.200620	0.94997	.	.	ENSG00000179295	ENST00000392597;ENST00000351677;ENST00000392596	D;D	0.97256	-4.31;-4.31	5.9	5.9	0.94986	.	0.047680	0.85682	D	0.000000	D	0.98460	0.9487	H	0.94734	3.575	0.80722	D	1	D;P	0.61697	0.99;0.941	P;P	0.53760	0.734;0.734	D	0.99346	1.0913	10	0.87932	D	0	.	16.3291	0.83001	1.0:0.0:0.0:0.0	.	76;76	Q06124-2;Q06124-3	.;.	G	76	ENSP00000376376:E76G;ENSP00000340944:E76G	ENSP00000340944:E76G	E	+	2	0	PTPN11	111372594	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.332000	0.96446	2.257000	0.74773	0.528000	0.53228	GAG		PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2		
GCN1L1	10985	hgsc.bcm.edu	37	12	120599361	120599361	+	Missense_Mutation	SNP	G	G	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr12:120599361G>C	ENST00000300648.6	-	22	2381	c.2369C>G	c.(2368-2370)gCc>gGc	p.A790G		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	790					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTTCATGTTGGCCTTTTTTAT	0.532																																																	0			12											222.0	216.0	218.0					12																	120599361		2101	4235	6336	119083744	SO:0001583	missense	10985			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.2369C>G	12.37:g.120599361G>C	ENSP00000300648:p.Ala790Gly	Somatic		Capture	Illumina HiSeq	Phase_I	119083744	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.670602	0.47781	.	.	ENSG00000089154	ENST00000300648	T	0.45276	0.9	5.82	4.93	0.64822	Armadillo-type fold (1);	0.166550	0.52532	D	0.000064	T	0.31734	0.0806	L	0.31752	0.955	0.58432	D	0.999997	B	0.06786	0.001	B	0.04013	0.001	T	0.06516	-1.0822	10	0.21540	T	0.41	.	14.7521	0.69533	0.0689:0.0:0.9311:0.0	.	790	Q92616	GCN1L_HUMAN	G	790	ENSP00000300648:A790G	ENSP00000300648:A790G	A	-	2	0	GCN1L1	119083744	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.210000	0.58500	1.484000	0.48361	0.655000	0.94253	GCC		GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1		
DNAH10	196385	hgsc.bcm.edu	37	12	124297818	124297818	+	Silent	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr12:124297818T>C	ENST00000409039.3	+	19	2923	c.2898T>C	c.(2896-2898)ccT>ccC	p.P966P		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	966	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.P784P(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTCTGAACCCTCAGATAATTG	0.408																																																	1	Substitution - coding silent(1)	ovary(1)	12											95.0	96.0	95.0					12																	124297818		2203	4300	6503	122863771	SO:0001819	synonymous_variant	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.2898T>C	12.37:g.124297818T>C		Somatic		Capture	Illumina HiSeq	Phase_I	122863771	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	CCDS9255.2																																																																																				DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
GOLGA3	2802	hgsc.bcm.edu	37	12	133384883	133384883	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr12:133384883T>C	ENST00000450791.2	-	4	955	c.772A>G	c.(772-774)Aat>Gat	p.N258D	GOLGA3_ENST00000456883.2_Missense_Mutation_p.N258D|GOLGA3_ENST00000204726.3_Missense_Mutation_p.N258D|GOLGA3_ENST00000545875.1_Missense_Mutation_p.N258D|GOLGA3_ENST00000537452.1_Missense_Mutation_p.N258D			Q08378	GOGA3_HUMAN	golgin A3	258					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CCCCCAGAATTCCCCGCATTT	0.537																																																	0			12											139.0	153.0	148.0					12																	133384883		2203	4300	6503	131894956	SO:0001583	missense	2802			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.772A>G	12.37:g.133384883T>C	ENSP00000410378:p.Asn258Asp	Somatic		Capture	Illumina HiSeq	Phase_I	131894956	A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	T	2.027	-0.423245	0.04734	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	3.9	1.24	0.21308	.	1.017860	0.07810	N	0.957950	T	0.16938	0.0407	N	0.22421	0.69	0.09310	N	0.999997	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.08055	0.003;0.003;0.001	T	0.33214	-0.9877	10	0.10377	T	0.69	.	5.0597	0.14551	0.0:0.1093:0.1805:0.7102	.	258;258;258	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	D	258	ENSP00000204726:N258D;ENSP00000410378:N258D;ENSP00000409303:N258D;ENSP00000442143:N258D;ENSP00000442603:N258D	ENSP00000204726:N258D	N	-	1	0	GOLGA3	131894956	0.005000	0.15991	0.015000	0.15790	0.291000	0.27294	1.349000	0.33998	0.501000	0.28013	0.477000	0.44152	AAT		GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895	
CYFIP1	23191	hgsc.bcm.edu	37	15	22963842	22963842	+	Silent	SNP	C	C	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr15:22963842C>A	ENST00000313077.7	+	21	2481	c.2356C>A	c.(2356-2358)Cga>Aga	p.R786R	CYFIP1_ENST00000435939.2_Silent_p.R355R|CYFIP1_ENST00000560848.1_Silent_p.R786R	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GGCGATTGGACGATTTGAAAG	0.448																																																	0			15											139.0	128.0	132.0					15																	22963842		2203	4300	6503	20515283	SO:0001819	synonymous_variant	23191			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.2356C>A	15.37:g.22963842C>A		Somatic		Capture	Illumina HiSeq	Phase_I	20515283		Silent	SNP	ENST00000313077.7	37	CCDS10009.1																																																																																				CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608	
MGA	23269	hgsc.bcm.edu	37	15	42041565	42041565	+	Silent	SNP	C	C	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr15:42041565C>A	ENST00000570161.1	+	16	5760	c.5760C>A	c.(5758-5760)acC>acA	p.T1920T	MGA_ENST00000219905.7_Silent_p.T1920T|MGA_ENST00000545763.1_Silent_p.T1711T|MGA_ENST00000389936.4_Silent_p.T1881T|MGA_ENST00000566586.1_Silent_p.T1711T			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCTCTGAAACCAAAATAACTT	0.463																																																	0			15											58.0	53.0	55.0					15																	42041565		1872	4103	5975	39828857	SO:0001819	synonymous_variant	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.5760C>A	15.37:g.42041565C>A		Somatic		Capture	Illumina HiSeq	Phase_I	39828857	Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000570161.1	37	CCDS55959.1																																																																																				MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1	
SLC28A2	9153	hgsc.bcm.edu	37	15	45555370	45555370	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr15:45555370A>G	ENST00000347644.3	+	5	439	c.374A>G	c.(373-375)aAg>aGg	p.K125R	CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	125					nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	TTTTTGAAAAAGCTCCTGGGC	0.453																																					NSCLC(92;493 1501 26361 28917 47116)												0			15											92.0	89.0	90.0					15																	45555370		2198	4298	6496	43342662	SO:0001583	missense	9153			U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"""Solute carriers"""	11002	protein-coding gene	gene with protein product		606208	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"""			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.374A>G	15.37:g.45555370A>G	ENSP00000315006:p.Lys125Arg	Somatic		Capture	Illumina HiSeq	Phase_I	43342662	A8K7F9|O43239|Q52LZ0	Missense_Mutation	SNP	ENST00000347644.3	37	CCDS10121.1	.	.	.	.	.	.	.	.	.	.	A	0.018	-1.481039	0.01027	.	.	ENSG00000137860	ENST00000347644	T	0.79845	-1.31	5.92	-0.316	0.12743	.	0.603852	0.19398	N	0.115249	T	0.61350	0.2340	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41840	-0.9486	10	0.11794	T	0.64	-3.0678	11.3572	0.49623	0.852:0.0:0.148:0.0	.	125	O43868	S28A2_HUMAN	R	125	ENSP00000315006:K125R	ENSP00000315006:K125R	K	+	2	0	SLC28A2	43342662	0.902000	0.30710	0.059000	0.19551	0.009000	0.06853	1.165000	0.31822	-0.103000	0.12175	0.528000	0.53228	AAG		SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254219.2	NM_004212	
PDCD7	10081	hgsc.bcm.edu	37	15	65412078	65412078	+	Missense_Mutation	SNP	C	C	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr15:65412078C>G	ENST00000204549.4	-	3	1278	c.1224G>C	c.(1222-1224)gaG>gaC	p.E408D		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	408					apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of T cell apoptotic process (GO:0070234)|response to glucocorticoid (GO:0051384)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						ACAACTTGGACTCAATTTCAC	0.363																																																	0			15											73.0	74.0	74.0					15																	65412078		2202	4299	6501	63199131	SO:0001583	missense	10081			AF083930	CCDS10201.1	15q22.2	2012-06-07			ENSG00000090470	ENSG00000090470			8767	protein-coding gene	gene with protein product	"""U11/U12 snRNP 59K"""	608138				10037816	Standard	NM_005707		Approved	HES18, ES18	uc002aol.3	Q8N8D1	OTTHUMG00000133117	ENST00000204549.4:c.1224G>C	15.37:g.65412078C>G	ENSP00000204549:p.Glu408Asp	Somatic		Capture	Illumina HiSeq	Phase_I	63199131	Q96AK8|Q9Y6D7	Missense_Mutation	SNP	ENST00000204549.4	37	CCDS10201.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.723991	0.30593	.	.	ENSG00000090470	ENST00000204549;ENST00000431964;ENST00000380204	.	.	.	5.31	1.12	0.20585	.	0.580151	0.16698	N	0.203242	T	0.24586	0.0596	L	0.41236	1.265	0.26537	N	0.974157	B	0.16603	0.018	B	0.10450	0.005	T	0.09335	-1.0679	9	0.20046	T	0.44	-12.4634	0.8947	0.01261	0.2232:0.3982:0.1165:0.2621	.	408	Q8N8D1	PDCD7_HUMAN	D	408;193;202	.	ENSP00000204549:E408D	E	-	3	2	PDCD7	63199131	0.937000	0.31787	1.000000	0.80357	0.996000	0.88848	-0.075000	0.11431	0.715000	0.32103	0.655000	0.94253	GAG		PDCD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256784.2	NM_005707	
SMAD3	4088	hgsc.bcm.edu	37	15	67482774	67482774	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr15:67482774C>T	ENST00000327367.4	+	9	1488	c.1178C>T	c.(1177-1179)cCc>cTc	p.P393L	SMAD3_ENST00000540846.2_Missense_Mutation_p.P288L|SMAD3_ENST00000439724.3_Missense_Mutation_p.P349L|SMAD3_ENST00000537194.2_Missense_Mutation_p.P198L	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	393	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.		P -> L (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|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 beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|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)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|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)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P393L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		ACCAGTACCCCCTGCTGGATT	0.527																																																	1	Substitution - Missense(1)	large_intestine(1)	15											61.0	59.0	59.0					15																	67482774		2201	4299	6500	65269828	SO:0001583	missense	4088			BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"""SMADs"""	6769	protein-coding gene	gene with protein product		603109	"""MAD, mothers against decapentaplegic homolog 3 (Drosophila)"", ""SMAD, mothers against DPP homolog 3 (Drosophila)"""	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.1178C>T	15.37:g.67482774C>T	ENSP00000332973:p.Pro393Leu	Somatic		Capture	Illumina HiSeq	Phase_I	65269828	A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Missense_Mutation	SNP	ENST00000327367.4	37	CCDS10222.1	.	.	.	.	.	.	.	.	.	.	C	31	5.088291	0.94100	.	.	ENSG00000166949	ENST00000327367;ENST00000535241;ENST00000540846;ENST00000439724;ENST00000537194	D;D;D;D	0.99722	-6.53;-6.53;-6.53;-6.53	5.14	5.14	0.70334	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	H	0.97465	4.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96529	0.9391	10	0.87932	D	0	.	18.6193	0.91316	0.0:1.0:0.0:0.0	.	349;393	B7Z4Z5;P84022	.;SMAD3_HUMAN	L	393;393;288;349;198	ENSP00000332973:P393L;ENSP00000437757:P288L;ENSP00000401133:P349L;ENSP00000445348:P198L	ENSP00000332973:P393L	P	+	2	0	SMAD3	65269828	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.723000	0.84788	2.401000	0.81631	0.561000	0.74099	CCC		SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256967.2	NM_005902	
AGBL1	123624	hgsc.bcm.edu	37	15	86813248	86813248	+	Missense_Mutation	SNP	A	A	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr15:86813248A>T	ENST00000441037.2	+	13	1894	c.1799A>T	c.(1798-1800)tAc>tTc	p.Y600F	AGBL1_ENST00000389298.3_Missense_Mutation_p.Y331F|AGBL1_ENST00000421325.2_Missense_Mutation_p.Y600F	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	600					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GCCATCCCTTACCACTTCAAC	0.498																																																	0			15											55.0	54.0	54.0					15																	86813248		1946	4160	6106	84614252	SO:0001583	missense	123624			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.1799A>T	15.37:g.86813248A>T	ENSP00000413001:p.Tyr600Phe	Somatic		Capture	Illumina HiSeq	Phase_I	84614252	A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	A	19.01	3.743810	0.69418	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.36520	1.25;1.25	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.68723	0.3032	M	0.93106	3.38	0.47276	D	0.99937	D;D;D	0.76494	0.982;0.994;0.999	P;P;D	0.80764	0.868;0.828;0.994	T	0.77487	-0.2569	10	0.87932	D	0	-26.9199	15.0613	0.71955	1.0:0.0:0.0:0.0	.	299;331;600	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	F	629;600;331	ENSP00000397173:Y600F;ENSP00000373949:Y331F	ENSP00000373949:Y331F	Y	+	2	0	AGBL1	84614252	1.000000	0.71417	0.937000	0.37676	0.282000	0.26991	9.146000	0.94640	2.152000	0.67230	0.459000	0.35465	TAC		AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336	
HAPLN3	145864	hgsc.bcm.edu	37	15	89422386	89422386	+	Missense_Mutation	SNP	C	C	T	rs75200279	byFrequency	TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr15:89422386C>T	ENST00000359595.3	-	4	822	c.608G>A	c.(607-609)cGg>cAg	p.R203Q	HAPLN3_ENST00000562889.1_Missense_Mutation_p.R265Q	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	203	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)				Hyaluronan(DB08818)	CTCCCAGGCCCGGAAGAGCTG	0.677											OREG0023445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	67	0.0133786	0.0484	0.0043	5008	,	,		15581	0.0		0.0	False		,,,				2504	0.0																0			15						C	GLN/ARG	157,4243	97.6+/-136.3	1,155,2044	33.0	37.0	36.0		608	3.4	1.0	15	dbSNP_131	36	1,8597	1.2+/-3.3	0,1,4298	yes	missense	HAPLN3	NM_178232.2	43	1,156,6342	TT,TC,CC		0.0116,3.5682,1.2156	benign	203/361	89422386	158,12840	2200	4299	6499	87223390	SO:0001583	missense	145864			AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511		"""Immunoglobulin superfamily / V-set domain containing"""	21446	protein-coding gene	gene with protein product			"""extracellular link domain containing, 1"""	EXLD1		12663660	Standard	NM_178232		Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680	ENST00000359595.3:c.608G>A	15.37:g.89422386C>T	ENSP00000352606:p.Arg203Gln	Somatic	1267	Capture	Illumina HiSeq	Phase_I	87223390	A8K7P0	Missense_Mutation	SNP	ENST00000359595.3	37	CCDS10346.1	35	0.016025641025641024	33	0.06707317073170732	2	0.0055248618784530384	0	0.0	0	0.0	C	15.97	2.989436	0.53934	0.035682	1.16E-4	ENSG00000140511	ENST00000359595	T	0.09538	2.97	4.36	3.44	0.39384	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.597953	0.16984	N	0.191571	T	0.00440	0.0014	N	0.20445	0.575	0.29557	N	0.850945	B;B	0.27316	0.175;0.175	B;B	0.20955	0.032;0.032	T	0.34477	-0.9827	10	0.22706	T	0.39	-23.1519	6.4344	0.21815	0.0:0.7031:0.0:0.2969	.	203;203	A8K7T8;Q96S86	.;HPLN3_HUMAN	Q	203	ENSP00000352606:R203Q	ENSP00000352606:R203Q	R	-	2	0	HAPLN3	87223390	0.997000	0.39634	1.000000	0.80357	1.000000	0.99986	3.226000	0.51254	0.944000	0.37579	0.655000	0.94253	CGG		HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	NM_178232	
TTC23	64927	hgsc.bcm.edu	37	15	99679553	99679553	+	Missense_Mutation	SNP	C	C	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr15:99679553C>A	ENST00000394132.2	-	13	2012	c.1195G>T	c.(1195-1197)Gcc>Tcc	p.A399S	RP11-6O2.3_ENST00000564527.1_RNA|TTC23_ENST00000558663.1_Missense_Mutation_p.A399S|TTC23_ENST00000262074.4_Missense_Mutation_p.A399S|TTC23_ENST00000394136.1_Missense_Mutation_p.A399S|TTC23_ENST00000394135.3_Missense_Mutation_p.A399S|TTC23_ENST00000558613.1_Missense_Mutation_p.A399S			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	399										endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			TGCTGGGTGGCCAGAGTCCTT	0.517																																																	0			15											74.0	70.0	71.0					15																	99679553		2197	4297	6494	97497076	SO:0001583	missense	64927				CCDS10379.2	15q26.3	2013-01-11			ENSG00000103852	ENSG00000103852		"""Tetratricopeptide (TTC) repeat domain containing"""	25730	protein-coding gene	gene with protein product						12477932	Standard	NM_001288615		Approved	FLJ12572, HCC-8	uc002bux.3	Q5W5X9	OTTHUMG00000147344	ENST00000394132.2:c.1195G>T	15.37:g.99679553C>A	ENSP00000377690:p.Ala399Ser	Somatic		Capture	Illumina HiSeq	Phase_I	97497076	A8K6M5|Q53HK0|Q96BC9|Q9H8W9|Q9H9S7	Missense_Mutation	SNP	ENST00000394132.2	37	CCDS10379.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.76|17.76	3.467620|3.467620	0.63625|0.63625	.|.	.|.	ENSG00000103852|ENSG00000103852	ENST00000394132;ENST00000394136;ENST00000262074;ENST00000394135|ENST00000434594	T;T;T;T|.	0.16897|.	2.31;2.31;2.31;2.31|.	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	0.000000|.	0.64402|.	U|.	0.000010|.	T|T	0.57873|0.57873	0.2083|0.2083	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.78314|.	0.991|.	T|T	0.52689|0.52689	-0.8542|-0.8542	10|5	0.15066|.	T|.	0.55|.	-11.4527|-11.4527	14.9033|14.9033	0.70696|0.70696	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	399|.	Q5W5X9|.	TTC23_HUMAN|.	S|C	399|209	ENSP00000377690:A399S;ENSP00000377693:A399S;ENSP00000262074:A399S;ENSP00000377692:A399S|.	ENSP00000262074:A399S|.	A|W	-|-	1|3	0|0	TTC23|TTC23	97497076|97497076	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.146000|0.146000	0.21551|0.21551	4.676000|4.676000	0.61627|0.61627	2.652000|2.652000	0.90054|0.90054	0.655000|0.655000	0.94253|0.94253	GCC|TGG		TTC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303953.2	NM_022905	
TLR8	51311	hgsc.bcm.edu	37	X	12940021	12940021	+	Missense_Mutation	SNP	G	G	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chrX:12940021G>C	ENST00000218032.6	+	2	2949	c.2862G>C	c.(2860-2862)tgG>tgC	p.W954C	TLR8_ENST00000311912.5_Missense_Mutation_p.W972C	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	954	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	CAAAAAGCTGGAACTTTAAAA	0.398																																																	0			X											65.0	63.0	64.0					X																	12940021		2203	4299	6502	12849942	SO:0001583	missense	51311			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.2862G>C	X.37:g.12940021G>C	ENSP00000218032:p.Trp954Cys	Somatic		Capture	Illumina HiSeq	Phase_I	12849942	B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.858209	0.32791	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.07800	3.16;3.16	5.7	5.7	0.88788	Toll/interleukin-1 receptor homology (TIR) domain (3);	0.000000	0.38326	N	0.001729	T	0.16428	0.0395	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.01566	-1.1323	10	0.48119	T	0.1	.	8.1073	0.30894	0.0881:0.2202:0.6918:0.0	.	954;972	Q9NR97;D1CS70	TLR8_HUMAN;.	C	954;972	ENSP00000218032:W954C;ENSP00000312082:W972C	ENSP00000218032:W954C	W	+	3	0	TLR8	12849942	0.994000	0.37717	1.000000	0.80357	0.977000	0.68977	1.342000	0.33919	2.406000	0.81754	0.600000	0.82982	TGG		TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610	
IL1RAPL1	11141	hgsc.bcm.edu	37	X	29938090	29938090	+	Silent	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chrX:29938090A>G	ENST00000378993.1	+	8	1609	c.936A>G	c.(934-936)gaA>gaG	p.E312E	IL1RAPL1_ENST00000302196.4_Silent_p.E312E	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	312	Ig-like C2-type 3.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						ATCTTGGGGAACAGGAAGTTT	0.378																																																	0			X											211.0	179.0	190.0					X																	29938090		2202	4300	6502	29848011	SO:0001819	synonymous_variant	11141			AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.936A>G	X.37:g.29938090A>G		Somatic		Capture	Illumina HiSeq	Phase_I	29848011	A0AVG4|Q9UJ53	Silent	SNP	ENST00000378993.1	37	CCDS14218.1																																																																																				IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271	
DMD	1756	hgsc.bcm.edu	37	X	31165491	31165491	+	Silent	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chrX:31165491A>G	ENST00000357033.4	-	75	10904	c.10698T>C	c.(10696-10698)cgT>cgC	p.R3566R	DMD_ENST00000474231.1_Silent_p.R1106R|DMD_ENST00000378707.3_Silent_p.R1106R|DMD_ENST00000378702.4_Silent_p.R498R|DMD_ENST00000378680.2_Silent_p.R388R|DMD_ENST00000541735.1_Silent_p.R996R|DMD_ENST00000361471.4_Silent_p.R485R|DMD_ENST00000343523.2_Silent_p.R996R|DMD_ENST00000378677.2_Silent_p.R3562R|DMD_ENST00000378723.3_Silent_p.R498R|DMD_ENST00000359836.1_Silent_p.R1093R	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	3566					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)			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)				CTTTGTGTTGACGCAGTAGCT	0.567																																																	0			X											82.0	68.0	73.0					X																	31165491		2202	4300	6502	31075412	SO:0001819	synonymous_variant	1756			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.10698T>C	X.37:g.31165491A>G		Somatic		Capture	Illumina HiSeq	Phase_I	31075412	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	A	10.16	1.274694	0.23307	.	.	ENSG00000198947	ENST00000465285	.	.	.	4.62	0.97	0.19692	.	.	.	.	.	T	0.54631	0.1870	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44817	-0.9303	4	.	.	.	.	7.5977	0.28058	0.4611:0.0:0.5388:0.0	.	.	.	.	P	1295	.	.	S	-	1	0	DMD	31075412	0.988000	0.35896	1.000000	0.80357	0.987000	0.75469	0.321000	0.19558	0.177000	0.19895	0.417000	0.27973	TCA		DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
SLC35A2	7355	hgsc.bcm.edu	37	X	48762432	48762432	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chrX:48762432A>G	ENST00000247138.5	-	4	757	c.754T>C	c.(754-756)Tgg>Cgg	p.W252R	SLC35A2_ENST00000445167.2_Intron|SLC35A2_ENST00000376521.1_Missense_Mutation_p.W252R|SLC35A2_ENST00000376529.3_Intron|SLC35A2_ENST00000376515.3_Intron|SLC35A2_ENST00000413561.2_Missense_Mutation_p.W191R|SLC35A2_ENST00000452555.2_Missense_Mutation_p.W280R	NM_005660.1	NP_005651.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	252			W -> C (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		galactose metabolic process (GO:0006012)|transmembrane transport (GO:0055085)|UDP-galactose transport (GO:0015785)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	sugar:proton symporter activity (GO:0005351)|UDP-galactose transmembrane transporter activity (GO:0005459)			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						CCCTCAGCCCACCAGAGCCCC	0.627																																																	0			X											30.0	21.0	24.0					X																	48762432		2201	4297	6498	48647376	SO:0001583	missense	7355			D88146	CCDS14311.1, CCDS35247.1, CCDS43937.1, CCDS65253.1, CCDS65254.1, CCDS75973.1, CCDS75974.1, CCDS75975.1	Xp11.23-p11.22	2013-05-22			ENSG00000102100	ENSG00000102100		"""Solute carriers"""	11022	protein-coding gene	gene with protein product		314375	"""solute carrier family 35 (UDP-galactose transporter), member 2"""	UGALT		8128316	Standard	NM_001042498		Approved	UGAT, UGT, UGT1, UGT2, UGTL	uc004dlo.1	P78381	OTTHUMG00000024129	ENST00000247138.5:c.754T>C	X.37:g.48762432A>G	ENSP00000247138:p.Trp252Arg	Somatic		Capture	Illumina HiSeq	Phase_I	48647376	A8K2L9|A8K9V1|B4DE11|B4DPT2|E7EW45|Q8IV21|Q92553	Missense_Mutation	SNP	ENST00000247138.5	37	CCDS14311.1	.	.	.	.	.	.	.	.	.	.	A	11.39	1.626072	0.28978	.	.	ENSG00000102100	ENST00000247138;ENST00000376521;ENST00000413561;ENST00000452555	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	5.86	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.34919	0.0914	L	0.41824	1.3	0.53005	D	0.999961	P;B;P;B;B	0.47302	0.691;0.331;0.893;0.165;0.349	B;B;B;B;B	0.43623	0.326;0.326;0.268;0.219;0.425	T	0.04053	-1.0981	10	0.28530	T	0.3	-5.0746	10.0341	0.42118	0.8328:0.1672:0.0:0.0	.	191;280;265;252;252	B4DE11;E7EW45;B4DE15;P78381-2;P78381	.;.;.;.;S35A2_HUMAN	R	252;252;191;280	ENSP00000247138:W252R;ENSP00000365704:W252R;ENSP00000393233:W191R;ENSP00000416002:W280R	ENSP00000247138:W252R	W	-	1	0	SLC35A2	48647376	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.114000	0.50383	0.796000	0.33947	0.486000	0.48141	TGG		SLC35A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060790.1	NM_005660	
CCNB3	85417	hgsc.bcm.edu	37	X	50037950	50037950	+	Missense_Mutation	SNP	C	C	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chrX:50037950C>A	ENST00000376042.1	+	5	590	c.292C>A	c.(292-294)Cat>Aat	p.H98N	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.H98N|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	98					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)				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)					CAGGAACACACATGCTCTTGG	0.393																																																	0			X											122.0	104.0	110.0					X																	50037950		2203	4300	6503	50054690	SO:0001583	missense	85417			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.292C>A	X.37:g.50037950C>A	ENSP00000365210:p.His98Asn	Somatic		Capture	Illumina HiSeq	Phase_I	50054690	B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	C	3.924	-0.017509	0.07681	.	.	ENSG00000147082	ENST00000376042;ENST00000396540;ENST00000276014	T;T	0.11712	2.75;2.75	2.97	-4.44	0.03557	.	10.623200	0.00166	N	0.000005	T	0.04318	0.0119	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.27606	-1.0069	9	.	.	.	.	0.3668	0.00373	0.2912:0.1988:0.2862:0.2237	.	98	Q8WWL7	CCNB3_HUMAN	N	98	ENSP00000365210:H98N;ENSP00000276014:H98N	.	H	+	1	0	CCNB3	50054690	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.198000	0.01239	-1.113000	0.02981	-1.026000	0.02426	CAT		CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1		
MAGED2	10916	hgsc.bcm.edu	37	X	54841194	54841194	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chrX:54841194A>G	ENST00000375068.1	+	11	1605	c.1372A>G	c.(1372-1374)Aag>Gag	p.K458E	MAGED2_ENST00000347546.4_Missense_Mutation_p.K440E|MAGED2_ENST00000375060.1_Missense_Mutation_p.K373E|SNORA11_ENST00000408789.1_RNA|MAGED2_ENST00000375058.1_Missense_Mutation_p.K458E|MAGED2_ENST00000375062.4_Missense_Mutation_p.K373E|MAGED2_ENST00000375053.2_Missense_Mutation_p.K458E|MAGED2_ENST00000396224.1_Missense_Mutation_p.K458E|MAGED2_ENST00000218439.4_Missense_Mutation_p.K458E			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	458	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.		K -> Q (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.			membrane (GO:0016020)		p.K458Q(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						GAAAGTCCTCAAGTTTGCCTG	0.547																																																	1	Substitution - Missense(1)	breast(1)	X											62.0	53.0	56.0					X																	54841194		2203	4300	6503	54857919	SO:0001583	missense	10916			AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated protein"", ""breast cancer associated gene 1"", ""melanoma-associated antigen D2"", ""hepatocellular carcinoma-associated protein HCA10"""	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.1372A>G	X.37:g.54841194A>G	ENSP00000364209:p.Lys458Glu	Somatic		Capture	Illumina HiSeq	Phase_I	54857919	A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Missense_Mutation	SNP	ENST00000375068.1	37	CCDS14362.1	.	.	.	.	.	.	.	.	.	.	A	12.53	1.966120	0.34659	.	.	ENSG00000102316	ENST00000375068;ENST00000375053;ENST00000347546;ENST00000343474;ENST00000375062;ENST00000218439;ENST00000375058;ENST00000375060;ENST00000396224	T;T;T;T;T;T;T;T;T	0.02763	4.2;4.2;4.28;4.21;4.17;4.2;4.2;4.17;4.2	4.32	4.32	0.51571	.	0.000000	0.45606	D	0.000346	T	0.01029	0.0034	N	0.02830	-0.485	0.30487	N	0.771783	P;B	0.36909	0.573;0.02	B;B	0.30716	0.119;0.056	T	0.34700	-0.9818	10	0.12766	T	0.61	.	4.3394	0.11103	0.6869:0.2024:0.1107:0.0	.	373;458	Q5H907;Q9UNF1	.;MAGD2_HUMAN	E	458;458;402;440;373;458;458;373;458	ENSP00000364209:K458E;ENSP00000364193:K458E;ENSP00000336962:K402E;ENSP00000340290:K440E;ENSP00000364202:K373E;ENSP00000218439:K458E;ENSP00000364198:K458E;ENSP00000364200:K373E;ENSP00000379526:K458E	ENSP00000218439:K458E	K	+	1	0	MAGED2	54857919	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.733000	0.38156	1.676000	0.50930	0.417000	0.27973	AAG		MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056821.2	NM_014599	
FAAH2	158584	hgsc.bcm.edu	37	X	57358060	57358060	+	Missense_Mutation	SNP	C	C	A	rs141132166		TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chrX:57358060C>A	ENST00000374900.4	+	4	562	c.442C>A	c.(442-444)Cgt>Agt	p.R148S		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	148						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)	p.R148C(1)		endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						ACTCATGAACCGTCGTGATGC	0.413										HNSCC(52;0.14)																																							1	Substitution - Missense(1)	ovary(1)	X											101.0	83.0	89.0					X																	57358060		2203	4300	6503	57374785	SO:0001583	missense	158584			AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"""amidase domain containing"""	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.442C>A	X.37:g.57358060C>A	ENSP00000364035:p.Arg148Ser	Somatic		Capture	Illumina HiSeq	Phase_I	57374785	Q86VT2|Q96N98	Missense_Mutation	SNP	ENST00000374900.4	37	CCDS14375.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.551159	0.27739	.	.	ENSG00000165591	ENST00000374900	T	0.63744	-0.06	2.38	1.49	0.22878	Amidase signature domain (2);	0.000000	0.64402	U	0.000001	T	0.75831	0.3903	M	0.85630	2.765	0.45995	D	0.998801	D	0.67145	0.996	D	0.74023	0.982	T	0.72503	-0.4273	10	0.56958	D	0.05	.	6.7878	0.23683	0.0:0.8359:0.0:0.1641	.	148	Q6GMR7	FAAH2_HUMAN	S	148	ENSP00000364035:R148S	ENSP00000364035:R148S	R	+	1	0	FAAH2	57374785	0.995000	0.38212	0.534000	0.28014	0.381000	0.30169	3.093000	0.50217	0.052000	0.16007	-0.322000	0.08575	CGT		FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056919.1	NM_174912	
HEPH	9843	hgsc.bcm.edu	37	X	65427042	65427042	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chrX:65427042G>T	ENST00000343002.2	+	13	2961	c.2297G>T	c.(2296-2298)gGt>gTt	p.G766V	HEPH_ENST00000374727.3_Missense_Mutation_p.G769V|HEPH_ENST00000336279.5_Missense_Mutation_p.G499V|HEPH_ENST00000519389.1_Missense_Mutation_p.G820V|HEPH_ENST00000441993.2_Missense_Mutation_p.G769V|HEPH_ENST00000419594.1_Missense_Mutation_p.G577V			Q9BQS7	HEPH_HUMAN	hephaestin	766	Plastocyanin-like 5.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TCTAGTTATGGTTACATTTTC	0.448																																																	0			X											117.0	99.0	105.0					X																	65427042		2203	4300	6503	65343767	SO:0001583	missense	9843			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.2297G>T	X.37:g.65427042G>T	ENSP00000343939:p.Gly766Val	Somatic		Capture	Illumina HiSeq	Phase_I	65343767	B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37		.	.	.	.	.	.	.	.	.	.	G	14.80	2.643385	0.47258	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	D;D;D;D;D;D;D	0.98978	-5.29;-5.29;-5.29;-5.29;-5.29;-5.29;-5.29	4.95	4.95	0.65309	Cupredoxin (2);	0.314636	0.33496	N	0.004845	D	0.98960	0.9646	M	0.73430	2.235	0.58432	D	0.999993	D;D;D;D	0.71674	0.968;0.985;0.977;0.998	P;P;P;D	0.65010	0.807;0.689;0.691;0.931	D	0.98939	1.0790	10	0.54805	T	0.06	.	12.3718	0.55260	0.0:0.1667:0.8333:0.0	.	820;166;577;766	E9PHN8;B4DFV3;E7ES21;Q9BQS7	.;.;.;HEPH_HUMAN	V	820;769;499;769;577;766;723	ENSP00000430620:G820V;ENSP00000363859:G769V;ENSP00000337418:G499V;ENSP00000411687:G769V;ENSP00000413211:G577V;ENSP00000343939:G766V;ENSP00000398078:G723V	ENSP00000337418:G499V	G	+	2	0	HEPH	65343767	1.000000	0.71417	0.983000	0.44433	0.502000	0.33828	4.624000	0.61254	2.302000	0.77476	0.544000	0.68410	GGT		HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737	
STARD8	9754	hgsc.bcm.edu	37	X	67937560	67937560	+	Silent	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chrX:67937560T>C	ENST00000252336.6	+	5	936	c.564T>C	c.(562-564)ggT>ggC	p.G188G	STARD8_ENST00000374597.3_Silent_p.G188G|STARD8_ENST00000374599.3_Silent_p.G268G	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	188			G -> S (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CCTCAGCCGGTGGCAGTGGTG	0.612																																																	0			X											41.0	37.0	39.0					X																	67937560		2203	4300	6503	67854285	SO:0001819	synonymous_variant	9754			D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.564T>C	X.37:g.67937560T>C		Somatic		Capture	Illumina HiSeq	Phase_I	67854285	A8K6T2|D3DVT9|Q5JST0|Q68DG7	Silent	SNP	ENST00000252336.6	37	CCDS14390.1																																																																																				STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725	
TAF1	6872	hgsc.bcm.edu	37	X	70595105	70595105	+	Silent	SNP	G	G	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chrX:70595105G>A	ENST00000373790.4	+	4	552	c.501G>A	c.(499-501)aaG>aaA	p.K167K	TAF1_ENST00000423759.1_Silent_p.K167K|TAF1_ENST00000449580.1_Silent_p.K167K|TAF1_ENST00000276072.3_Silent_p.K167K	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	167	Protein kinase 1.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|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)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GACCAATGAAGAAGGATAAGG	0.433																																																	0			X											117.0	99.0	105.0					X																	70595105		2203	4300	6503	70511830	SO:0001819	synonymous_variant	6872				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.501G>A	X.37:g.70595105G>A		Somatic		Capture	Illumina HiSeq	Phase_I	70511830	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Silent	SNP	ENST00000373790.4	37	CCDS35325.1																																																																																				TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606	
SLC16A2	6567	hgsc.bcm.edu	37	X	73751291	73751291	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chrX:73751291A>G	ENST00000587091.1	+	6	1700	c.1523A>G	c.(1522-1524)gAg>gGg	p.E508G	SLC16A2_ENST00000276033.5_Missense_Mutation_p.E582G	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	508					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	TTCAAGAAAGAGCAGAGAGAT	0.547																																																	0			X											106.0	92.0	97.0					X																	73751291		2203	4300	6503	73668016	SO:0001583	missense	6567				CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"""Solute carriers"""	10923	protein-coding gene	gene with protein product		300095	"""solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)"", ""Allan-Herndon-Dudley syndrome"", ""solute carrier family 16 (monocarboxylic acid transporters), member 2"", ""mental retardation, X-linked 22"", ""solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"""	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.1523A>G	X.37:g.73751291A>G	ENSP00000465734:p.Glu508Gly	Somatic		Capture	Illumina HiSeq	Phase_I	73668016	Q7Z797	Missense_Mutation	SNP	ENST00000587091.1	37	CCDS14426.2	.	.	.	.	.	.	.	.	.	.	A	12.67	2.008991	0.35415	.	.	ENSG00000147100	ENST00000276033	T	0.11712	2.75	5.3	4.15	0.48705	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.775103	0.12099	N	0.499630	T	0.07728	0.0194	N	0.17082	0.46	0.30984	N	0.722118	B	0.12013	0.005	B	0.15052	0.012	T	0.05903	-1.0857	10	0.45353	T	0.12	.	9.7488	0.40464	0.9179:0.0:0.0821:0.0	.	508	P36021	MOT8_HUMAN	G	582	ENSP00000276033:E582G	ENSP00000276033:E582G	E	+	2	0	SLC16A2	73668016	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.510000	0.60455	1.770000	0.52166	0.430000	0.28490	GAG		SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057266.3		
RLIM	51132	hgsc.bcm.edu	37	X	73811648	73811648	+	Missense_Mutation	SNP	G	G	A	rs200629905		TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chrX:73811648G>A	ENST00000332687.6	-	4	1720	c.1502C>T	c.(1501-1503)tCa>tTa	p.S501L	RLIM_ENST00000349225.2_Missense_Mutation_p.S501L	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	501	Poly-Ser.|Ser-rich.				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)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S501L(3)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTGATGATGAGCTTCCTTC	0.488																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)												3	Substitution - Missense(3)	prostate(2)|ovary(1)	X											45.0	38.0	40.0					X																	73811648		2203	4300	6503	73728373	SO:0001583	missense	51132			AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1502C>T	X.37:g.73811648G>A	ENSP00000328059:p.Ser501Leu	Somatic		Capture	Illumina HiSeq	Phase_I	73728373	B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	G	7.117	0.577275	0.13686	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.08984	3.03;3.03	5.41	4.55	0.56014	.	0.666655	0.15400	N	0.264373	T	0.10121	0.0248	L	0.49126	1.545	0.38573	D	0.949983	B	0.02656	0.0	B	0.01281	0.0	T	0.08764	-1.0706	10	0.23891	T	0.37	-0.2985	13.4694	0.61273	0.0772:0.0:0.9228:0.0	.	501	Q9NVW2	RNF12_HUMAN	L	501	ENSP00000328059:S501L;ENSP00000253571:S501L	ENSP00000328059:S501L	S	-	2	0	RLIM	73728373	0.997000	0.39634	0.969000	0.41365	0.831000	0.47069	2.664000	0.46783	1.072000	0.40860	-0.192000	0.12808	TCA		RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120	
KIAA2022	340533	hgsc.bcm.edu	37	X	73963106	73963106	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chrX:73963106A>G	ENST00000055682.6	-	3	1897	c.1286T>C	c.(1285-1287)cTt>cCt	p.L429P		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	429					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GGAATTAGCAAGATGGCCCTG	0.428																																																	0			X											175.0	143.0	154.0					X																	73963106		2203	4300	6503	73879831	SO:0001583	missense	340533				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.1286T>C	X.37:g.73963106A>G	ENSP00000055682:p.Leu429Pro	Somatic		Capture	Illumina HiSeq	Phase_I	73879831	A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	A	8.003	0.755836	0.15846	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.40225	1.04;1.04	6.03	3.33	0.38152	.	0.355912	0.20754	N	0.086294	T	0.28995	0.0720	L	0.31578	0.945	0.20489	N	0.999894	B	0.06786	0.001	B	0.09377	0.004	T	0.23726	-1.0180	10	0.72032	D	0.01	-2.1432	7.4999	0.27511	0.6777:0.0:0.3223:0.0	.	429	Q5QGS0	K2022_HUMAN	P	429	ENSP00000362567:L429P;ENSP00000055682:L429P	ENSP00000055682:L429P	L	-	2	0	KIAA2022	73879831	1.000000	0.71417	0.307000	0.25127	0.537000	0.34900	4.032000	0.57274	0.885000	0.36088	0.486000	0.48141	CTT		KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537	
P2RY10	27334	hgsc.bcm.edu	37	X	78216071	78216071	+	Silent	SNP	C	C	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chrX:78216071C>A	ENST00000171757.2	+	4	334	c.54C>A	c.(52-54)acC>acA	p.T18T	P2RY10_ENST00000544091.1_Silent_p.T18T|P2RY10_ENST00000475374.1_3'UTR	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						GCAACAGTACCAGCACTGCTG	0.378																																																	0			X											142.0	110.0	121.0					X																	78216071		2203	4300	6503	78102727	SO:0001819	synonymous_variant	27334			AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.54C>A	X.37:g.78216071C>A		Somatic		Capture	Illumina HiSeq	Phase_I	78102727	D3DTE5|Q4VBN7|Q86V16	Silent	SNP	ENST00000171757.2	37	CCDS14442.1																																																																																				P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1		
FAM46D	169966	hgsc.bcm.edu	37	X	79698872	79698872	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chrX:79698872G>T	ENST00000308293.5	+	3	1073	c.834G>T	c.(832-834)aaG>aaT	p.K278N	FAM46D_ENST00000538312.1_Missense_Mutation_p.K278N	NM_152630.4	NP_689843.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	278										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						AACAGCAAAAGAAAATTGAAT	0.368													G|||	1	0.000264901	0.0	0.0	3775	,	,		15735	0.001		0.0	False		,,,				2504	0.0																0			X											76.0	67.0	70.0					X																	79698872		2202	4296	6498	79585528	SO:0001583	missense	169966			BX537938	CCDS14446.1	Xq21.1	2009-08-18			ENSG00000174016	ENSG00000174016			28399	protein-coding gene	gene with protein product	"""cancer/testis antigen 112"""					12477932	Standard	NM_152630		Approved	MGC26999, CT1.26, CT112	uc004edl.1	Q8NEK8	OTTHUMG00000021902	ENST00000308293.5:c.834G>T	X.37:g.79698872G>T	ENSP00000308575:p.Lys278Asn	Somatic		Capture	Illumina HiSeq	Phase_I	79585528	B2R9Q6|Q7Z3F6|Q8NHU1	Missense_Mutation	SNP	ENST00000308293.5	37	CCDS14446.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.662616	0.29515	.	.	ENSG00000174016	ENST00000538312;ENST00000308293	T;T	0.23348	1.91;1.91	4.46	1.63	0.23807	Domain of unknown function DUF1693 (1);	0.114669	0.56097	D	0.000038	T	0.19604	0.0471	N	0.24115	0.695	0.33469	D	0.58591	P	0.39717	0.684	P	0.46049	0.502	T	0.22941	-1.0202	10	0.36615	T	0.2	-3.0277	7.3187	0.26515	0.3963:0.0:0.6037:0.0	.	278	Q8NEK8	FA46D_HUMAN	N	278	ENSP00000443410:K278N;ENSP00000308575:K278N	ENSP00000308575:K278N	K	+	3	2	FAM46D	79585528	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	1.341000	0.33907	0.358000	0.24211	0.583000	0.79449	AAG		FAM46D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057338.1	NM_152630	
MUM1L1	139221	hgsc.bcm.edu	37	X	105450659	105450659	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chrX:105450659A>G	ENST00000357175.2	+	4	1883	c.1234A>G	c.(1234-1236)Agt>Ggt	p.S412G	MUM1L1_ENST00000372552.1_Missense_Mutation_p.S412G|MUM1L1_ENST00000337685.2_Missense_Mutation_p.S412G	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	412	PWWP.					extracellular vesicular exosome (GO:0070062)		p.S412C(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGTGATAAAAAGTATCAGACG	0.343																																																	1	Substitution - Missense(1)	ovary(1)	X											37.0	33.0	34.0					X																	105450659		1836	4072	5908	105337315	SO:0001583	missense	139221			AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.1234A>G	X.37:g.105450659A>G	ENSP00000349699:p.Ser412Gly	Somatic		Capture	Illumina HiSeq	Phase_I	105337315	D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Missense_Mutation	SNP	ENST00000357175.2	37	CCDS55469.1	.	.	.	.	.	.	.	.	.	.	A	11.07	1.531289	0.27387	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	T;T;T	0.71461	-0.57;-0.57;-0.57	4.31	4.31	0.51392	.	0.000000	0.64402	D	0.000012	T	0.62233	0.2411	M	0.68317	2.08	0.29455	N	0.85816	P	0.47484	0.896	B	0.35182	0.197	T	0.69068	-0.5243	10	0.87932	D	0	-33.04	8.8406	0.35140	1.0:0.0:0.0:0.0	.	412	Q5H9M0	MUML1_HUMAN	G	412	ENSP00000349699:S412G;ENSP00000338641:S412G;ENSP00000361632:S412G	ENSP00000338641:S412G	S	+	1	0	MUM1L1	105337315	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	4.085000	0.57657	1.908000	0.55244	0.430000	0.28490	AGT		MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057795.1	NM_152423	
TENM1	10178	hgsc.bcm.edu	37	X	123631097	123631097	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chrX:123631097T>C	ENST00000371130.3	-	20	3527	c.3464A>G	c.(3463-3465)aAt>aGt	p.N1155S	TENM1_ENST00000461429.1_5'Flank|TENM1_ENST00000422452.2_Missense_Mutation_p.N1155S	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1155					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ATTTTCTCCATTCCCTTTATG	0.368																																																	0			X											89.0	76.0	80.0					X																	123631097		2202	4300	6502	123458778	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.3464A>G	X.37:g.123631097T>C	ENSP00000360171:p.Asn1155Ser	Somatic		Capture	Illumina HiSeq	Phase_I	123458778	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	T	12.33	1.904643	0.33628	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.87029	-2.2;-2.13	5.55	5.55	0.83447	.	0.106321	0.64402	N	0.000006	T	0.74839	0.3769	N	0.16862	0.45	0.52501	D	0.99995	P;P;B	0.43094	0.651;0.799;0.102	B;B;B	0.30179	0.112;0.112;0.018	T	0.78160	-0.2312	10	0.46703	T	0.11	.	14.705	0.69183	0.0:0.0:0.0:1.0	.	1154;1155;1155	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	S	1155	ENSP00000360171:N1155S;ENSP00000403954:N1155S	ENSP00000360171:N1155S	N	-	2	0	ODZ1	123458778	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	6.245000	0.72398	1.853000	0.53794	0.486000	0.48141	AAT		TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	
SASH3	54440	hgsc.bcm.edu	37	X	128926971	128926971	+	Missense_Mutation	SNP	A	A	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chrX:128926971A>T	ENST00000356892.3	+	7	922	c.808A>T	c.(808-810)Aca>Tca	p.T270S	RP4-753P9.3_ENST00000432513.1_RNA	NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	270	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				homeostasis of number of cells within a tissue (GO:0048873)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tumor necrosis factor production (GO:0032760)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						ACAGGAGCACACATCCACCCT	0.567																																																	0			X											100.0	75.0	84.0					X																	128926971		2203	4300	6503	128754652	SO:0001583	missense	54440			BC051881	CCDS14614.1	Xq26	2013-01-10	2008-02-18	2008-02-18	ENSG00000122122	ENSG00000122122		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	15975	protein-coding gene	gene with protein product		300441	"""chromosome X open reading frame 9"""	CXorf9		11470164	Standard	NM_018990		Approved	SLY, 753P9, SH3D6C, HACS2	uc004euu.3	O75995	OTTHUMG00000022372	ENST00000356892.3:c.808A>T	X.37:g.128926971A>T	ENSP00000349359:p.Thr270Ser	Somatic		Capture	Illumina HiSeq	Phase_I	128754652	A6NCH1|A8K7K8|Q5JZ38	Missense_Mutation	SNP	ENST00000356892.3	37	CCDS14614.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.324839	0.41197	.	.	ENSG00000122122	ENST00000443760;ENST00000356892	D	0.85955	-2.05	5.66	4.48	0.54585	Src homology-3 domain (1);Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.246302	0.48767	D	0.000169	T	0.80380	0.4612	L	0.51422	1.61	0.41515	D	0.988366	B;B	0.22983	0.078;0.003	B;B	0.24848	0.056;0.006	T	0.76493	-0.2939	10	0.33141	T	0.24	-23.3621	10.7881	0.46417	0.9223:0.0:0.0777:0.0	.	288;270	B4DKQ0;O75995	.;SASH3_HUMAN	S	288;270	ENSP00000349359:T270S	ENSP00000349359:T270S	T	+	1	0	SASH3	128754652	0.888000	0.30383	0.987000	0.45799	0.739000	0.42172	1.577000	0.36515	1.914000	0.55421	0.430000	0.28490	ACA		SASH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058208.1	NM_018990	
AIFM1	9131	hgsc.bcm.edu	37	X	129283521	129283521	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chrX:129283521T>C	ENST00000287295.3	-	3	502	c.272A>G	c.(271-273)gAt>gGt	p.D91G	AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000535724.1_Missense_Mutation_p.D4G|AIFM1_ENST00000319908.3_Missense_Mutation_p.D87G	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	91					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	TCTTTTTTCATCCTCTTTCAT	0.383																																																	0			X											206.0	182.0	190.0					X																	129283521		2202	4300	6502	129111202	SO:0001583	missense	9131			AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"""programmed cell death 8 (apoptosis-inducing factor)"", ""neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"""	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.272A>G	X.37:g.129283521T>C	ENSP00000287295:p.Asp91Gly	Somatic		Capture	Illumina HiSeq	Phase_I	129111202	A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Missense_Mutation	SNP	ENST00000287295.3	37	CCDS14618.1	.	.	.	.	.	.	.	.	.	.	T	11.80	1.745892	0.30955	.	.	ENSG00000156709	ENST00000319908;ENST00000535724;ENST00000287295	T;D;T	0.83992	0.71;-1.79;0.71	5.5	5.5	0.81552	.	0.230096	0.51477	D	0.000097	T	0.81555	0.4847	M	0.64404	1.975	0.33277	D	0.561823	B;B;B	0.30146	0.27;0.043;0.031	B;B;B	0.33890	0.113;0.172;0.034	D	0.85624	0.1266	10	0.51188	T	0.08	-3.0781	12.1135	0.53852	0.0:0.0:0.0:1.0	.	91;87;91	Q1L6K6;O95831-3;O95831	.;.;AIFM1_HUMAN	G	87;4;91	ENSP00000315122:D87G;ENSP00000446113:D4G;ENSP00000287295:D91G	ENSP00000287295:D91G	D	-	2	0	AIFM1	129111202	0.974000	0.33945	0.125000	0.21846	0.318000	0.28184	2.777000	0.47717	1.846000	0.53633	0.472000	0.43445	GAT		AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2		
RBMX2	51634	hgsc.bcm.edu	37	X	129546359	129546359	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chrX:129546359A>G	ENST00000305536.6	+	6	570	c.506A>G	c.(505-507)aAg>aGg	p.K169R		NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	169	Lys-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						aagaaaaaaaagaaagaaaaa	0.383																																																	0			X											33.0	34.0	34.0					X																	129546359		1801	4066	5867	129374040	SO:0001583	missense	51634			AF078865	CCDS43993.1	Xq26.1	2013-02-12			ENSG00000134597	ENSG00000134597		"""RNA binding motif (RRM) containing"""	24282	protein-coding gene	gene with protein product						10810093	Standard	NM_016024		Approved	CGI-79	uc004evt.3	Q9Y388	OTTHUMG00000022395	ENST00000305536.6:c.506A>G	X.37:g.129546359A>G	ENSP00000339090:p.Lys169Arg	Somatic		Capture	Illumina HiSeq	Phase_I	129374040	A8K9Z0|Q5JY82|Q9Y3I8	Missense_Mutation	SNP	ENST00000305536.6	37	CCDS43993.1	.	.	.	.	.	.	.	.	.	.	A	11.11	1.543688	0.27563	.	.	ENSG00000134597	ENST00000305536;ENST00000538614	T	0.13420	2.59	3.72	1.27	0.21489	.	0.126159	0.51477	N	0.000085	T	0.08179	0.0204	L	0.29908	0.895	0.42095	D	0.991319	B	0.09022	0.002	B	0.08055	0.003	T	0.21143	-1.0254	10	0.38643	T	0.18	.	4.654	0.12608	0.7113:0.0:0.2887:0.0	.	169	Q9Y388	RBMX2_HUMAN	R	169	ENSP00000339090:K169R	ENSP00000339090:K169R	K	+	2	0	RBMX2	129374040	1.000000	0.71417	0.829000	0.32907	0.951000	0.60555	2.256000	0.43231	0.432000	0.26286	0.486000	0.48141	AAG		RBMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058265.1	NM_016024	
AFF2	2334	hgsc.bcm.edu	37	X	148037366	148037366	+	Silent	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chrX:148037366T>C	ENST00000370460.2	+	11	2270	c.1791T>C	c.(1789-1791)cgT>cgC	p.R597R	AFF2_ENST00000342251.3_Silent_p.R564R|AFF2_ENST00000286437.5_Silent_p.R238R|AFF2_ENST00000370457.5_Silent_p.R564R	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	597					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)			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)					AGAAAGCCCGTCCACGGCCCA	0.468																																																	0			X											96.0	100.0	99.0					X																	148037366		2203	4300	6503	147845066	SO:0001819	synonymous_variant	2334			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.1791T>C	X.37:g.148037366T>C		Somatic		Capture	Illumina HiSeq	Phase_I	147845066	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	ENST00000370460.2	37	CCDS14684.1																																																																																				AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025	
AFF2	2334	hgsc.bcm.edu	37	X	148068985	148068985	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chrX:148068985C>T	ENST00000370460.2	+	20	4191	c.3712C>T	c.(3712-3714)Cgc>Tgc	p.R1238C	AFF2_ENST00000342251.3_Missense_Mutation_p.R1205C|AFF2_ENST00000286437.5_Missense_Mutation_p.R879C|AFF2_ENST00000370457.5_Missense_Mutation_p.R1203C	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1238					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)			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)					CATTCCCCAGCGCATTCACCA	0.517																																																	0			X											212.0	161.0	178.0					X																	148068985		2203	4300	6503	147876691	SO:0001583	missense	2334			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.3712C>T	X.37:g.148068985C>T	ENSP00000359489:p.Arg1238Cys	Somatic		Capture	Illumina HiSeq	Phase_I	147876691	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593941	0.86953	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.74	4.83	0.62350	.	0.062858	0.64402	D	0.000008	T	0.81297	0.4793	M	0.81497	2.545	0.80722	D	1	D;D;D;D;D;D	0.89917	0.996;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.992;0.996;0.999;0.999;0.999;0.999	D	0.83552	0.0102	10	0.72032	D	0.01	.	12.6336	0.56671	0.2874:0.7126:0.0:0.0	.	879;1203;1203;1199;1228;1238	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	C	1238;1203;1205;879	ENSP00000359489:R1238C;ENSP00000359486:R1203C;ENSP00000345459:R1205C;ENSP00000286437:R879C	ENSP00000286437:R879C	R	+	1	0	AFF2	147876691	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.838000	0.55828	2.423000	0.82170	0.600000	0.82982	CGC		AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025	
PLXNA3	55558	hgsc.bcm.edu	37	X	153695461	153695461	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chrX:153695461C>T	ENST00000369682.3	+	18	3344	c.3169C>T	c.(3169-3171)Cgt>Tgt	p.R1057C		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1057	IPT/TIG 3.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCCCGGGTCCGTGCCAAGTA	0.667																																																	0			X											79.0	72.0	74.0					X																	153695461		2203	4300	6503	153348655	SO:0001583	missense	55558			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.3169C>T	X.37:g.153695461C>T	ENSP00000358696:p.Arg1057Cys	Somatic		Capture	Illumina HiSeq	Phase_I	153348655	Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.641453	0.87859	.	.	ENSG00000130827	ENST00000369682	T	0.78364	-1.17	5.8	5.8	0.92144	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.89079	0.6613	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89436	0.3720	10	0.51188	T	0.08	.	17.6415	0.88138	0.0:1.0:0.0:0.0	.	1057	P51805	PLXA3_HUMAN	C	1057	ENSP00000358696:R1057C	ENSP00000358696:R1057C	R	+	1	0	PLXNA3	153348655	0.940000	0.31905	0.999000	0.59377	0.801000	0.45260	1.677000	0.37576	2.438000	0.82558	0.600000	0.82982	CGT		PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514	
CRIPAK	285464	hgsc.bcm.edu	37	4	1388790	1388790	+	Missense_Mutation	SNP	T	T	C	rs79415192		TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr4:1388790T>C	ENST00000324803.4	+	1	3451	c.491T>C	c.(490-492)gTg>gCg	p.V164A		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	164					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.V164A(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CGTGCCGACGTGGAGTGCCCG	0.692																																																	1	Substitution - Missense(1)	lung(1)	4											180.0	124.0	143.0					4																	1388790		2201	4281	6482	1378790	SO:0001583	missense	285464			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.491T>C	4.37:g.1388790T>C	ENSP00000323978:p.Val164Ala	Somatic		Capture	Illumina HiSeq	Phase_I	1378790	Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	t	1.148	-0.647432	0.03506	.	.	ENSG00000179979	ENST00000324803	T	0.24350	1.86	1.25	-2.49	0.06403	.	.	.	.	.	T	0.08714	0.0216	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20174	-1.0283	9	0.14252	T	0.57	.	0.8761	0.01224	0.1598:0.3215:0.2492:0.2695	.	164	Q8N1N5	CRPAK_HUMAN	A	164	ENSP00000323978:V164A	ENSP00000323978:V164A	V	+	2	0	CRIPAK	1378790	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.847000	0.04331	-2.974000	0.00285	-1.550000	0.00899	GTG		CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
KIT	3815	hgsc.bcm.edu	37	4	55592081	55592081	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr4:55592081T>C	ENST00000288135.5	+	9	1502	c.1405T>C	c.(1405-1407)Ttt>Ctt	p.F469L		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	469	Ig-like C2-type 5.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|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 pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.F469L(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGGGCCACCGTTTGGAAAGCT	0.458		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																														yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"""L, M, O, E"""	1	Substitution - Missense(1)	bone(1)	4											112.0	101.0	105.0					4																	55592081		2203	4300	6503	55286838	SO:0001583	missense	3815	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1405T>C	4.37:g.55592081T>C	ENSP00000288135:p.Phe469Leu	Somatic		Capture	Illumina HiSeq	Phase_I	55286838	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	T	14.02	2.412154	0.42817	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	T;T	0.02837	4.14;4.14	5.9	4.72	0.59763	Immunoglobulin-like fold (1);	0.281938	0.30890	N	0.008661	T	0.04543	0.0124	M	0.62209	1.925	0.36234	D	0.852837	B;B	0.09022	0.002;0.0	B;B	0.09377	0.003;0.004	T	0.19289	-1.0310	10	0.35671	T	0.21	.	10.5319	0.44981	0.0:0.073:0.0:0.927	.	469;469	P10721-2;P10721	.;KIT_HUMAN	L	469	ENSP00000288135:F469L;ENSP00000390987:F469L	ENSP00000288135:F469L	F	+	1	0	KIT	55286838	0.998000	0.40836	0.008000	0.14137	0.016000	0.09150	3.562000	0.53777	1.062000	0.40625	0.533000	0.62120	TTT		KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1		
KIT	3815	hgsc.bcm.edu	37	4	55593694	55593694	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr4:55593694A>G	ENST00000288135.5	+	11	1857	c.1760A>G	c.(1759-1761)aAc>aGc	p.N587S		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	587					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|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 pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.I571_N587del(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTTCCCAGAAACAGGCTGAGT	0.408		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																														yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"""L, M, O, E"""	1	Deletion - In frame(1)	soft_tissue(1)	4											69.0	67.0	68.0					4																	55593694		2203	4300	6503	55288451	SO:0001583	missense	3815	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1760A>G	4.37:g.55593694A>G	ENSP00000288135:p.Asn587Ser	Somatic		Capture	Illumina HiSeq	Phase_I	55288451	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	A	16.24	3.066869	0.55539	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.89050	-2.46;-2.46	6.06	4.89	0.63831	Protein kinase-like domain (1);	0.080023	0.53938	N	0.000060	D	0.87273	0.6136	M	0.75777	2.31	0.42796	D	0.993915	B;P;B	0.35208	0.08;0.49;0.388	B;B;B	0.31016	0.016;0.096;0.123	D	0.86440	0.1766	10	0.72032	D	0.01	.	11.8041	0.52143	0.9322:0.0:0.0678:0.0	.	94;583;587	D5MAV8;P10721-2;P10721	.;.;KIT_HUMAN	S	587;583	ENSP00000288135:N587S;ENSP00000390987:N583S	ENSP00000288135:N587S	N	+	2	0	KIT	55288451	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	9.150000	0.94667	1.128000	0.42052	0.533000	0.62120	AAC		KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1		
KIT	3815	hgsc.bcm.edu	37	4	55595599	55595599	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr4:55595599C>T	ENST00000288135.5	+	14	2186	c.2089C>T	c.(2089-2091)Cat>Tat	p.H697Y		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	697	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|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 pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.H697Y(1)|p.H697fs*28(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCAGGAAGATCATGCAGAAGC	0.378		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																														yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"""L, M, O, E"""	2	Substitution - Missense(1)|Deletion - Frameshift(1)	thymus(1)|soft_tissue(1)	4											108.0	112.0	111.0					4																	55595599		2203	4300	6503	55290356	SO:0001583	missense	3815	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2089C>T	4.37:g.55595599C>T	ENSP00000288135:p.His697Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	55290356	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.523887	0.27299	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	T;T	0.77098	-1.07;-1.06	6.06	6.06	0.98353	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.379912	0.25310	N	0.031594	T	0.69378	0.3104	N	0.19112	0.55	0.37226	D	0.905454	B;B;B	0.33238	0.301;0.006;0.403	B;B;P	0.44860	0.089;0.012;0.462	T	0.64054	-0.6497	10	0.02654	T	1	.	14.4463	0.67352	0.147:0.853:0.0:0.0	.	204;693;697	D5MAV8;P10721-2;P10721	.;.;KIT_HUMAN	Y	697;693	ENSP00000288135:H697Y;ENSP00000390987:H693Y	ENSP00000288135:H697Y	H	+	1	0	KIT	55290356	1.000000	0.71417	0.634000	0.29324	0.686000	0.39977	2.782000	0.47758	2.882000	0.98803	0.655000	0.94253	CAT		KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1		
KDR	3791	hgsc.bcm.edu	37	4	55946257	55946257	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr4:55946257C>T	ENST00000263923.4	-	30	4217	c.3922G>A	c.(3922-3924)Gga>Aga	p.G1308R	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1308					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.G1308*(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GAGTGATATCCGGACTGGTAG	0.512			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																														Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	1	Substitution - Nonsense(1)	lung(1)	4											180.0	172.0	175.0					4																	55946257		2203	4300	6503	55641014	SO:0001583	missense	3791			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3922G>A	4.37:g.55946257C>T	ENSP00000263923:p.Gly1308Arg	Somatic		Capture	Illumina HiSeq	Phase_I	55641014	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487782	0.84854	.	.	ENSG00000128052	ENST00000263923	T	0.75821	-0.97	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.85974	0.5822	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82587	-0.0383	10	0.25751	T	0.34	.	19.6607	0.95868	0.0:1.0:0.0:0.0	.	1308	P35968	VGFR2_HUMAN	R	1308	ENSP00000263923:G1308R	ENSP00000263923:G1308R	G	-	1	0	KDR	55641014	1.000000	0.71417	0.925000	0.36789	0.894000	0.52154	7.487000	0.81328	2.660000	0.90430	0.650000	0.86243	GGA		KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1		
FRAS1	80144	hgsc.bcm.edu	37	4	79238639	79238639	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr4:79238639A>G	ENST00000325942.6	+	17	2377	c.1937A>G	c.(1936-1938)tAc>tGc	p.Y646C	FRAS1_ENST00000264895.6_Missense_Mutation_p.Y646C|FRAS1_ENST00000264899.6_Missense_Mutation_p.Y646C	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	646					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GAGGGTTTCTACTCTGACCAT	0.522																																																	0			4											72.0	76.0	75.0					4																	79238639		2026	4198	6224	79457663	SO:0001583	missense	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.1937A>G	4.37:g.79238639A>G	ENSP00000326330:p.Tyr646Cys	Somatic		Capture	Illumina HiSeq	Phase_I	79457663	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.09|13.09	2.133104|2.133104	0.37630|0.37630	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000502446|ENST00000325942;ENST00000264895;ENST00000264899	.|D;D;D	.|0.90004	.|-2.6;-2.6;-2.6	5.71|5.71	5.71|5.71	0.89125|0.89125	.|Growth factor, receptor (1);	.|0.071118	.|0.64402	.|D	.|0.000018	D|D	0.95655|0.95655	0.8587|0.8587	H|H	0.95679|0.95679	3.705|3.705	0.42869|0.42869	D|D	0.994136|0.994136	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.79784	.|0.971;0.982;0.979;0.993	D|D	0.96391|0.96391	0.9289|0.9289	5|10	.|0.87932	.|D	.|0	.|.	10.25|10.25	0.43364|0.43364	0.8521:0.0:0.0:0.1479|0.8521:0.0:0.0:0.1479	.|.	.|646;646;646;646	.|E9PHH6;Q86XX4;E7EWM9;A2RRR8	.|.;FRAS1_HUMAN;.;.	A|C	575|646	.|ENSP00000326330:Y646C;ENSP00000264895:Y646C;ENSP00000264899:Y646C	.|ENSP00000264895:Y646C	T|Y	+|+	1|2	0|0	FRAS1|FRAS1	79457663|79457663	0.998000|0.998000	0.40836|0.40836	0.991000|0.991000	0.47740|0.47740	0.056000|0.056000	0.15407|0.15407	4.162000|4.162000	0.58177|0.58177	2.184000|2.184000	0.69523|0.69523	0.459000|0.459000	0.35465|0.35465	ACT|TAC		FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2		
BMP2K	55589	hgsc.bcm.edu	37	4	79786719	79786719	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr4:79786719A>G	ENST00000335016.5	+	10	1242	c.1076A>G	c.(1075-1077)gAt>gGt	p.D359G	BMP2K_ENST00000502871.1_Missense_Mutation_p.D359G	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	359					regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						AGAATAACAGATACCATTGGA	0.358																																																	0			4											95.0	89.0	91.0					4																	79786719		2203	4300	6503	80005743	SO:0001583	missense	55589			AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1076A>G	4.37:g.79786719A>G	ENSP00000334836:p.Asp359Gly	Somatic		Capture	Illumina HiSeq	Phase_I	80005743	O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	CCDS47083.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.109071	0.77096	.	.	ENSG00000138756	ENST00000502871;ENST00000335016;ENST00000264889	T;T	0.73897	1.98;-0.79	5.26	5.26	0.73747	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77811	0.4186	M	0.72353	2.195	0.80722	D	1	P;P	0.49185	0.92;0.79	P;B	0.48304	0.573;0.306	T	0.76653	-0.2880	10	0.27082	T	0.32	-15.5031	15.4859	0.75569	1.0:0.0:0.0:0.0	.	359;359	Q9NSY1;Q4W5H2	BMP2K_HUMAN;.	G	359;359;373	ENSP00000421768:D359G;ENSP00000334836:D359G	ENSP00000264889:D373G	D	+	2	0	BMP2K	80005743	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.378000	0.90144	2.125000	0.65367	0.533000	0.62120	GAT		BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593	
ATOH1	474	hgsc.bcm.edu	37	4	94750181	94750181	+	Missense_Mutation	SNP	C	C	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr4:94750181C>A	ENST00000306011.3	+	1	140	c.104C>A	c.(103-105)cCg>cAg	p.P35Q		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	35	Poly-Pro.				auditory receptor cell fate determination (GO:0042668)|auditory receptor cell fate specification (GO:0042667)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|cerebral cortex development (GO:0021987)|inner ear morphogenesis (GO:0042472)|negative regulation of apoptotic process (GO:0043066)|neuron migration (GO:0001764)|positive regulation of auditory receptor cell differentiation (GO:0045609)|positive regulation of neuron differentiation (GO:0045666)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		CCGCCGCCGCCGCAGCCACCT	0.672																																																	0			4											23.0	26.0	25.0					4																	94750181		2197	4289	6486	94969204	SO:0001583	missense	474			U61148	CCDS3638.1	4q22	2013-05-21			ENSG00000172238	ENSG00000172238		"""Basic helix-loop-helix proteins"""	797	protein-coding gene	gene with protein product		601461				8872459	Standard	NM_005172		Approved	HATH1, MATH-1, Math1, bHLHa14	uc003hta.1	Q92858	OTTHUMG00000130972	ENST00000306011.3:c.104C>A	4.37:g.94750181C>A	ENSP00000302216:p.Pro35Gln	Somatic		Capture	Illumina HiSeq	Phase_I	94969204	Q14CT9	Missense_Mutation	SNP	ENST00000306011.3	37	CCDS3638.1	.	.	.	.	.	.	.	.	.	.	C	9.110	1.006290	0.19199	.	.	ENSG00000172238	ENST00000306011	D	0.99089	-5.41	4.2	4.2	0.49525	.	.	.	.	.	D	0.95733	0.8612	N	0.08118	0	0.27740	N	0.944506	P	0.42039	0.769	B	0.39738	0.308	D	0.92211	0.5776	9	0.35671	T	0.21	-8.1124	14.1101	0.65115	0.0:1.0:0.0:0.0	.	35	Q92858	ATOH1_HUMAN	Q	35	ENSP00000302216:P35Q	ENSP00000302216:P35Q	P	+	2	0	ATOH1	94969204	0.036000	0.19791	0.408000	0.26446	0.011000	0.07611	0.804000	0.27098	2.173000	0.68751	0.573000	0.79308	CCG		ATOH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253585.1	NM_005172	
UNC5C	8633	hgsc.bcm.edu	37	4	96199474	96199474	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr4:96199474T>C	ENST00000453304.1	-	4	878	c.530A>G	c.(529-531)gAa>gGa	p.E177G	UNC5C_ENST00000504962.1_Missense_Mutation_p.E177G|UNC5C_ENST00000506749.1_Missense_Mutation_p.E177G	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	177	Ig-like C2-type.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CAAAGACACTTCCTTTCCTAG	0.413																																																	0			4											153.0	136.0	142.0					4																	96199474		2203	4300	6503	96418497	SO:0001583	missense	8633			AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.530A>G	4.37:g.96199474T>C	ENSP00000406022:p.Glu177Gly	Somatic		Capture	Illumina HiSeq	Phase_I	96418497	Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.702447	0.88924	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749;ENST00000504962	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	5.64	5.64	0.86602	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.75287	0.3829	M	0.73372	2.23	0.80722	D	1	B;P;P	0.47191	0.02;0.891;0.761	B;P;P	0.51487	0.049;0.671;0.58	T	0.77395	-0.2604	10	0.52906	T	0.07	.	15.862	0.79032	0.0:0.0:0.0:1.0	.	177;177;177	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	G	177;136;177;177;177	ENSP00000406022:E177G;ENSP00000426924:E177G;ENSP00000426153:E177G;ENSP00000425117:E177G	ENSP00000328673:E136G	E	-	2	0	UNC5C	96418497	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.984000	0.88150	2.145000	0.66743	0.460000	0.39030	GAA		UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728	
GAB1	2549	hgsc.bcm.edu	37	4	144359719	144359719	+	Silent	SNP	C	C	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr4:144359719C>T	ENST00000262994.4	+	4	1463	c.1161C>T	c.(1159-1161)acC>acT	p.T387T	GAB1_ENST00000262995.4_Silent_p.T387T|GAB1_ENST00000505913.1_Silent_p.T284T	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	387			T -> N (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		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)			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)					GTAGTAATACCATTTCCACTG	0.413																																																	0			4											110.0	99.0	103.0					4																	144359719		2203	4300	6503	144579169	SO:0001819	synonymous_variant	128869			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.1161C>T	4.37:g.144359719C>T		Somatic		Capture	Illumina HiSeq	Phase_I	144579169	A8K152|Q4W5G2|Q6P1W2	Silent	SNP	ENST00000262994.4	37	CCDS3759.1																																																																																				GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364998.1	NM_002039	
FBXW7	55294	hgsc.bcm.edu	37	4	153249383	153249383	+	Silent	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr4:153249383A>G	ENST00000281708.4	-	9	2624	c.1395T>C	c.(1393-1395)cgT>cgC	p.R465R	FBXW7_ENST00000603548.1_Silent_p.R465R|FBXW7_ENST00000603841.1_Silent_p.R465R|FBXW7_ENST00000263981.5_Silent_p.R385R|FBXW7_ENST00000393956.3_Silent_p.R289R|FBXW7_ENST00000296555.5_Silent_p.R347R	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.?(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)				GATGCATACAACGCACAGTGG	0.413			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)	4											253.0	218.0	230.0					4																	153249383		2203	4300	6503	153468833	SO:0001819	synonymous_variant	55294			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.1395T>C	4.37:g.153249383A>G		Somatic		Capture	Illumina HiSeq	Phase_I	153468833	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Silent	SNP	ENST00000281708.4	37	CCDS3777.1																																																																																				FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
FBXW7	55294	hgsc.bcm.edu	37	4	153253790	153253790	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr4:153253790C>T	ENST00000281708.4	-	6	2172	c.943G>A	c.(943-945)Gct>Act	p.A315T	FBXW7_ENST00000603548.1_Missense_Mutation_p.A315T|FBXW7_ENST00000603841.1_Missense_Mutation_p.A315T|FBXW7_ENST00000263981.5_Missense_Mutation_p.A235T|FBXW7_ENST00000393956.3_Missense_Mutation_p.A139T|FBXW7_ENST00000296555.5_Missense_Mutation_p.A197T	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	315	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				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.A315T(1)|p.?(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)				TTGTCTTCAGCCAAAATTCTC	0.403			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	2	Substitution - Missense(1)|Unknown(1)	haematopoietic_and_lymphoid_tissue(1)|stomach(1)	4											76.0	78.0	77.0					4																	153253790		2203	4300	6503	153473240	SO:0001583	missense	55294			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.943G>A	4.37:g.153253790C>T	ENSP00000281708:p.Ala315Thr	Somatic		Capture	Illumina HiSeq	Phase_I	153473240	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	32	5.117157	0.94385	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	6.05	6.05	0.98169	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.52789	0.1756	L	0.56199	1.76	0.80722	D	1	P;P;P;P	0.43542	0.727;0.81;0.68;0.68	B;B;B;B	0.40659	0.224;0.336;0.143;0.143	T	0.44452	-0.9327	10	0.23302	T	0.38	-19.4569	20.6013	0.99457	0.0:1.0:0.0:0.0	.	139;315;197;235	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	T	315;197;235;139	ENSP00000281708:A315T;ENSP00000296555:A197T;ENSP00000263981:A235T;ENSP00000377528:A139T	ENSP00000263981:A235T	A	-	1	0	FBXW7	153473240	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.760000	0.85248	2.878000	0.98634	0.650000	0.86243	GCT		FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
GRIA2	2891	hgsc.bcm.edu	37	4	158257749	158257749	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr4:158257749G>T	ENST00000264426.9	+	11	1973	c.1694G>T	c.(1693-1695)aGc>aTc	p.S565I	GRIA2_ENST00000296526.7_Missense_Mutation_p.S565I|GRIA2_ENST00000449365.1_Missense_Mutation_p.S518I|GRIA2_ENST00000393815.2_Missense_Mutation_p.S518I|GRIA2_ENST00000507898.1_Missense_Mutation_p.S518I	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	565					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|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)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|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)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TTCCTGGTCAGCAGATTTAGC	0.403																																																	0			4											175.0	164.0	168.0					4																	158257749		2203	4300	6503	158477199	SO:0001583	missense	2891				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1694G>T	4.37:g.158257749G>T	ENSP00000264426:p.Ser565Ile	Somatic		Capture	Illumina HiSeq	Phase_I	158477199	A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371626	0.82573	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	5.46	5.46	0.80206	Ionotropic glutamate receptor (2);	0.082206	0.85682	D	0.000000	T	0.56673	0.2001	M	0.81497	2.545	0.80722	D	1	P;D;D	0.89917	0.529;1.0;0.998	B;D;D	0.91635	0.194;0.999;0.993	T	0.60454	-0.7260	10	0.87932	D	0	.	19.6634	0.95882	0.0:0.0:1.0:0.0	.	565;565;518	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	I	518;518;565;565;518	ENSP00000426845:S518I;ENSP00000377403:S518I;ENSP00000296526:S565I;ENSP00000264426:S565I;ENSP00000389837:S518I	ENSP00000264426:S565I	S	+	2	0	GRIA2	158477199	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.720000	0.93068	0.655000	0.94253	AGC		GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2		
WDR17	116966	hgsc.bcm.edu	37	4	177049909	177049909	+	Missense_Mutation	SNP	C	C	T	rs146789582	byFrequency	TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr4:177049909C>T	ENST00000280190.4	+	7	1039	c.883C>T	c.(883-885)Cgc>Tgc	p.R295C	WDR17_ENST00000393643.2_Missense_Mutation_p.R271C|WDR17_ENST00000507824.2_Missense_Mutation_p.R278C|WDR17_ENST00000508596.1_Missense_Mutation_p.R271C			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	295								p.R295C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GGGTGTTTTACGCATTTGGAA	0.303													C|||	2	0.000399361	0.0008	0.0	5008	,	,		14386	0.001		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	large_intestine(1)	4						C	CYS/ARG,CYS/ARG	0,4404		0,0,2202	55.0	53.0	54.0		883,811	4.5	1.0	4	dbSNP_134	54	1,8579	1.2+/-3.3	0,1,4289	no	missense,missense	WDR17	NM_170710.4,NM_181265.3	180,180	0,1,6491	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging,probably-damaging	295/1323,271/1284	177049909	1,12983	2202	4290	6492	177286903	SO:0001583	missense	116966			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.883C>T	4.37:g.177049909C>T	ENSP00000280190:p.Arg295Cys	Somatic		Capture	Illumina HiSeq	Phase_I	177286903	E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	CCDS3825.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	C	19.75	3.885671	0.72410	0.0	1.17E-4	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.64260	-0.09;-0.09;-0.09	5.45	4.52	0.55395	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.77857	0.4193	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.80531	-0.1341	10	0.87932	D	0	-16.6086	14.1509	0.65384	0.2327:0.7673:0.0:0.0	.	271;295	E7EQX0;Q8IZU2	.;WDR17_HUMAN	C	271;271;295;278	ENSP00000422763:R271C;ENSP00000377258:R271C;ENSP00000280190:R295C	ENSP00000280190:R295C	R	+	1	0	WDR17	177286903	0.995000	0.38212	0.962000	0.40283	0.959000	0.62525	2.620000	0.46410	2.555000	0.86185	0.650000	0.86243	CGC		WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2		
TAF1B	9014	hgsc.bcm.edu	37	2	10059941	10059941	+	Silent	SNP	C	C	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr2:10059941C>T	ENST00000263663.5	+	14	1745	c.1557C>T	c.(1555-1557)ttC>ttT	p.F519F	TAF1B_ENST00000396242.3_Silent_p.F264F	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	519					gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|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)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)	p.F519F(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CACAGAAATTCTGCAGATGGT	0.378																																																	1	Substitution - coding silent(1)	breast(1)	2											49.0	47.0	48.0					2																	10059941		2203	4300	6503	9977392	SO:0001819	synonymous_variant	9014			L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"""			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.1557C>T	2.37:g.10059941C>T		Somatic		Capture	Illumina HiSeq	Phase_I	9977392	B4DI42|F8WD72|Q15574|Q8WVC3	Silent	SNP	ENST00000263663.5	37	CCDS33143.1																																																																																				TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323426.2	NM_005680	
GEN1	348654	hgsc.bcm.edu	37	2	17953922	17953922	+	Missense_Mutation	SNP	G	G	A	rs202239270	byFrequency	TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr2:17953922G>A	ENST00000381254.2	+	8	1038	c.824G>A	c.(823-825)cGt>cAt	p.R275H	GEN1_ENST00000317402.7_Missense_Mutation_p.R275H|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	275			R -> L (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R275fs*37(2)|p.R275L(1)		breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GATCATGAACGTAATGGATGC	0.348								Homologous recombination					G|||	2	0.000399361	0.0008	0.0	5008	,	,		18094	0.0		0.001	False		,,,				2504	0.0																3	Deletion - Frameshift(2)|Substitution - Missense(1)	breast(3)	2						G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	87.0	78.0	81.0		824,824	3.7	1.0	2		81	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	GEN1	NM_001130009.1,NM_182625.3	29,29	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign,benign	275/909,275/909	17953922	3,13003	2203	4300	6503	17817403	SO:0001583	missense	348654			AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"""Holliday junction resolvase"""	612449	"""Gen endonuclease homolog 1 (Drosophila)"""			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.824G>A	2.37:g.17953922G>A	ENSP00000370653:p.Arg275His	Somatic		Capture	Illumina HiSeq	Phase_I	17817403	Q17RS9|Q6ZN37	Missense_Mutation	SNP	ENST00000381254.2	37	CCDS1691.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	G	15.89	2.967665	0.53507	2.27E-4	2.33E-4	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000528873	T;T;T	0.45276	0.9;0.9;0.9	5.49	3.7	0.42460	-3&apos (1); exonuclease, C-terminal domain (1);5&apos (1);	0.150617	0.43579	N	0.000542	T	0.32912	0.0845	L	0.41027	1.25	0.36958	D	0.893206	B	0.25521	0.128	B	0.17098	0.017	T	0.26430	-1.0103	10	0.52906	T	0.07	-6.3158	11.0856	0.48084	0.2058:0.0:0.7942:0.0	.	275	Q17RS7	GEN_HUMAN	H	275;275;46	ENSP00000318977:R275H;ENSP00000370653:R275H;ENSP00000431542:R46H	ENSP00000318977:R275H	R	+	2	0	GEN1	17817403	0.348000	0.24861	0.996000	0.52242	0.994000	0.84299	0.648000	0.24828	0.695000	0.31675	0.655000	0.94253	CGT		GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	NM_182625	
HEATR5B	54497	hgsc.bcm.edu	37	2	37234317	37234317	+	Silent	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr2:37234317T>C	ENST00000233099.5	-	29	4748	c.4653A>G	c.(4651-4653)gaA>gaG	p.E1551E	HEATR5B_ENST00000354531.2_Silent_p.E1551E	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1551						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TTGCTGCTGCTTCTGTAGACT	0.433																																																	0			2											146.0	134.0	138.0					2																	37234317		2203	4300	6503	37087821	SO:0001819	synonymous_variant	54497			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.4653A>G	2.37:g.37234317T>C		Somatic		Capture	Illumina HiSeq	Phase_I	37087821	B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	37	CCDS33181.1																																																																																				HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024	
MSH2	4436	hgsc.bcm.edu	37	2	47657020	47657020	+	Silent	SNP	C	C	A	rs63751108		TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr2:47657020C>A	ENST00000233146.2	+	7	1439	c.1216C>A	c.(1216-1218)Cga>Aga	p.R406R	MSH2_ENST00000406134.1_Silent_p.R406R|MSH2_ENST00000543555.1_Silent_p.R340R	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	406					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(2)|p.R406*(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGATTGTTACCGACTCTATCA	0.368			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	mutS homolog 2 (E. coli)		E	5	Whole gene deletion(2)|Unknown(2)|Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)	2	GRCh37	CM930497	MSH2	M	rs63751108						85.0	79.0	81.0					2																	47657020		2203	4300	6503	47510524	SO:0001819	synonymous_variant	4436	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"""mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)"", ""mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"""	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.1216C>A	2.37:g.47657020C>A		Somatic		Capture	Illumina HiSeq	Phase_I	47510524	B4E2Z2|O75488	Silent	SNP	ENST00000233146.2	37	CCDS1834.1																																																																																				MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3		
GTF2A1L	11036	hgsc.bcm.edu	37	2	48848421	48848421	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr2:48848421C>T	ENST00000403751.3	+	3	276	c.239C>T	c.(238-240)tCg>tTg	p.S80L	STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.S784L|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.S784L|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.S784L|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.S784L|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.S46L|GTF2A1L_ENST00000468326.1_3'UTR|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.S784L	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	80					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACATTGCAATCGTCAACAGGT	0.383																																																	0			2											75.0	75.0	75.0					2																	48848421		2203	4300	6503	48701925	SO:0001583	missense	11036			AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.239C>T	2.37:g.48848421C>T	ENSP00000384597:p.Ser80Leu	Somatic		Capture	Illumina HiSeq	Phase_I	48701925	B4DY14|Q53FD9|Q5D050	Missense_Mutation	SNP	ENST00000403751.3	37	CCDS46281.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.378136	0.24944	.	.	ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000242441;ENSG00000242441;ENSG00000242441;ENSG00000242441	ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751;ENST00000394749;ENST00000448460;ENST00000437125;ENST00000430487;ENST00000403751	T;T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.99;0.91;0.95;0.91;0.91	3.59	3.59	0.41128	.	0.480024	0.20172	N	0.097715	T	0.41190	0.1148	L	0.56769	1.78	0.09310	N	0.99999	P;P;P;D;P	0.53462	0.625;0.659;0.919;0.96;0.816	B;B;B;P;B	0.44394	0.088;0.025;0.202;0.448;0.209	T	0.37267	-0.9713	10	0.52906	T	0.07	.	10.8977	0.47031	0.0:0.8087:0.1913:0.0	.	46;784;784;80;784	Q9UNN4-2;A8MXJ1;B5MCF5;Q9UNN4;Q53S48	.;.;.;TF2AY_HUMAN;.	L	784;784;784;784;784;79;46;80;46;80	ENSP00000385499:S784L;ENSP00000385701:S784L;ENSP00000378236:S784L;ENSP00000311493:S784L;ENSP00000378234:S784L;ENSP00000412645:S46L;ENSP00000396702:S80L;ENSP00000387896:S46L;ENSP00000384597:S80L	ENSP00000384597:S80L	S	+	2	0	STON1-GTF2A1L;GTF2A1L	48701925	0.974000	0.33945	0.679000	0.29978	0.362000	0.29581	2.179000	0.42528	1.997000	0.58415	0.563000	0.77884	TCG		GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872	
GPAT2	150763	hgsc.bcm.edu	37	2	96690546	96690546	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr2:96690546G>A	ENST00000434632.1	-	15	1862	c.1403C>T	c.(1402-1404)aCg>aTg	p.T468M	GPAT2_ENST00000377137.3_Missense_Mutation_p.T468M|GPAT2_ENST00000359548.4_Missense_Mutation_p.T468M|FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000453542.1_Missense_Mutation_p.T397M			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	468					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						GAGCAGCAGCGTTGCCATAAT	0.652																																																	0			2											119.0	128.0	125.0					2																	96690546		2054	4185	6239	96054273	SO:0001583	missense	0			BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"""cancer/testis antigen 123"""					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.1403C>T	2.37:g.96690546G>A	ENSP00000389395:p.Thr468Met	Somatic		Capture	Illumina HiSeq	Phase_I	96054273	Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Missense_Mutation	SNP	ENST00000434632.1	37	CCDS42714.1	.	.	.	.	.	.	.	.	.	.	g	13.79	2.342914	0.41498	.	.	ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542;ENST00000377137	T;T;T;T	0.77750	-1.11;-1.11;-0.11;-1.12	5.36	5.36	0.76844	.	0.261640	0.38959	N	0.001519	D	0.83538	0.5276	L	0.44542	1.39	0.09310	N	0.999994	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.81914	0.966;0.95;0.917;0.95;0.995	T	0.76782	-0.2832	10	0.72032	D	0.01	-6.0044	14.5886	0.68347	0.0:0.0:1.0:0.0	.	397;468;468;468;397	E9PE95;Q6NUI2-3;Q6NUI2-4;Q6NUI2;B4DNZ9	.;.;.;GPAT2_HUMAN;.	M	468;468;397;468	ENSP00000352547:T468M;ENSP00000389395:T468M;ENSP00000393770:T397M;ENSP00000366341:T468M	ENSP00000352547:T468M	T	-	2	0	GPAT2	96054273	0.786000	0.28738	0.464000	0.27143	0.192000	0.23643	5.405000	0.66351	2.525000	0.85131	0.637000	0.83480	ACG		GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328	
CNOT11	55571	hgsc.bcm.edu	37	2	101883145	101883145	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr2:101883145G>A	ENST00000289382.3	+	5	1205	c.1042G>A	c.(1042-1044)Ggt>Agt	p.G348S		NM_017546.4	NP_060016.3	Q9UKZ1	CNO11_HUMAN	CCR4-NOT transcription complex, subunit 11	348					cell proliferation (GO:0008283)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|nucleus (GO:0005634)											TTAGCTACTTGGTGAGTTGGA	0.388																																																	0			2											102.0	104.0	103.0					2																	101883145		2203	4300	6503	101249577	SO:0001583	missense	55571			AF103798	CCDS2050.1	2q12.1	2013-01-24	2013-01-24	2013-01-24	ENSG00000158435	ENSG00000158435			25217	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 29"""	C2orf29		10497265, 23232451, 23303381	Standard	NM_017546		Approved	C40	uc002taw.4	Q9UKZ1	OTTHUMG00000130686	ENST00000289382.3:c.1042G>A	2.37:g.101883145G>A	ENSP00000289382:p.Gly348Ser	Somatic		Capture	Illumina HiSeq	Phase_I	101249577	Q6P2M9|Q8N681	Missense_Mutation	SNP	ENST00000289382.3	37	CCDS2050.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.30|12.30	1.895949|1.895949	0.33442|0.33442	.|.	.|.	ENSG00000158435|ENSG00000158435	ENST00000289382|ENST00000420107	.|.	.|.	.|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.051925|.	0.85682|.	D|.	0.000000|.	T|.	0.34832|.	0.0911|.	N|N	0.01705|0.01705	-0.755|-0.755	0.80722|0.80722	D|D	1|1	B|.	0.13145|.	0.007|.	B|.	0.08055|.	0.003|.	T|.	0.34650|.	-0.9820|.	9|.	0.09338|.	T|.	0.73|.	-17.4915|-17.4915	20.3931|20.3931	0.98965|0.98965	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	348|.	Q9UKZ1|.	CB029_HUMAN|.	S|X	348|27	.|.	ENSP00000289382:G348S|.	G|W	+|+	1|2	0|0	C2orf29|C2orf29	101249577|101249577	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.992000|0.992000	0.81027|0.81027	7.930000|7.930000	0.87610|0.87610	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	GGT|TGG		CNOT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253181.1	NM_017546	
MERTK	10461	hgsc.bcm.edu	37	2	112687110	112687110	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr2:112687110T>C	ENST00000295408.4	+	2	732	c.475T>C	c.(475-477)Tcc>Ccc	p.S159P	MERTK_ENST00000409780.1_Intron|RN7SL297P_ENST00000483161.2_RNA|MERTK_ENST00000421804.2_Missense_Mutation_p.S159P			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	159	Ig-like C2-type 1.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						AATAATCGCTTCCTTCAGGTA	0.343																																																	0			2											107.0	94.0	98.0					2																	112687110		2203	4300	6503	112403581	SO:0001583	missense	10461			U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.475T>C	2.37:g.112687110T>C	ENSP00000295408:p.Ser159Pro	Somatic		Capture	Illumina HiSeq	Phase_I	112403581	Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	T	9.005	0.981111	0.18812	.	.	ENSG00000153208	ENST00000295408;ENST00000421804	T;T	0.69435	-0.4;-0.4	4.44	0.611	0.17586	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.665962	0.11708	U	0.537240	T	0.45558	0.1348	L	0.31752	0.955	0.80722	D	1	B	0.10296	0.003	B	0.10450	0.005	T	0.43442	-0.9391	10	0.27785	T	0.31	-4.2235	0.9055	0.01283	0.3298:0.097:0.1712:0.402	.	159	Q12866	MERTK_HUMAN	P	159	ENSP00000295408:S159P;ENSP00000389152:S159P	ENSP00000295408:S159P	S	+	1	0	MERTK	112403581	0.255000	0.24002	0.988000	0.46212	0.958000	0.62258	0.391000	0.20784	0.738000	0.32606	-0.376000	0.06991	TCC		MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2		
CCDC93	54520	hgsc.bcm.edu	37	2	118716002	118716002	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr2:118716002T>C	ENST00000376300.2	-	12	1081	c.944A>G	c.(943-945)cAt>cGt	p.H315R	CCDC93_ENST00000319432.5_Missense_Mutation_p.H314R|CCDC93_ENST00000460781.1_5'UTR	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	315			H -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.					p.H315R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						TTTCCGGCGATGTAGCTGGGA	0.398																																																	1	Substitution - Missense(1)	large_intestine(1)	2											124.0	109.0	114.0					2																	118716002		2203	4300	6503	118432472	SO:0001583	missense	54520			BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.944A>G	2.37:g.118716002T>C	ENSP00000365477:p.His315Arg	Somatic		Capture	Illumina HiSeq	Phase_I	118432472	A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Missense_Mutation	SNP	ENST00000376300.2	37	CCDS2121.2	.	.	.	.	.	.	.	.	.	.	T	12.41	1.930166	0.34096	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.19938	2.11;2.11	5.33	5.33	0.75918	.	0.104609	0.64402	N	0.000003	T	0.21468	0.0517	L	0.29908	0.895	0.34245	D	0.678123	P	0.43938	0.822	P	0.47941	0.562	T	0.23119	-1.0197	10	0.32370	T	0.25	-4.8735	11.6751	0.51425	0.0:0.0:0.0:1.0	.	315	Q567U6	CCD93_HUMAN	R	315;314	ENSP00000365477:H315R;ENSP00000324135:H314R	ENSP00000324135:H314R	H	-	2	0	CCDC93	118432472	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	4.776000	0.62354	2.250000	0.74265	0.456000	0.33151	CAT		CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	NM_019044	
THSD7B	80731	hgsc.bcm.edu	37	2	137990530	137990530	+	Silent	SNP	C	C	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr2:137990530C>T	ENST00000409968.1	+	9	2155	c.1977C>T	c.(1975-1977)tcC>tcT	p.S659S	THSD7B_ENST00000272643.3_Silent_p.S659S|THSD7B_ENST00000413152.2_Silent_p.S628S|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	659	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATGACCATTCCTGTATGCAGC	0.483																																																	0			2											115.0	114.0	114.0					2																	137990530		1997	4163	6160	137707000	SO:0001819	synonymous_variant	80731					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1977C>T	2.37:g.137990530C>T		Somatic		Capture	Illumina HiSeq	Phase_I	137707000		Silent	SNP	ENST00000409968.1	37																																																																																					THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9	
SCN1A	6323	hgsc.bcm.edu	37	2	166848031	166848031	+	Silent	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr2:166848031A>G	ENST00000303395.4	-	26	5753	c.5754T>C	c.(5752-5754)tcT>tcC	p.S1918S	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Silent_p.S1907S|SCN1A_ENST00000423058.2_Silent_p.S1918S|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Silent_p.S1890S			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1918	IQ.				adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TAATGACAGCAGATACTTCCT	0.403																																																	0			2											103.0	98.0	99.0					2																	166848031		2203	4300	6503	166556277	SO:0001819	synonymous_variant	6323			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5754T>C	2.37:g.166848031A>G		Somatic		Capture	Illumina HiSeq	Phase_I	166556277	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	CCDS54413.1																																																																																				SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920	
MYO3B	140469	hgsc.bcm.edu	37	2	171238588	171238588	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr2:171238588A>G	ENST00000408978.4	+	10	1177	c.1034A>G	c.(1033-1035)gAg>gGg	p.E345G	MYO3B_ENST00000409044.3_Missense_Mutation_p.E345G|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000334231.6_Missense_Mutation_p.E354G	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	345	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TACTGCCTTGAGGATGATTTG	0.373																																																	0			2											150.0	139.0	143.0					2																	171238588		1883	4101	5984	170946834	SO:0001583	missense	140469				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1034A>G	2.37:g.171238588A>G	ENSP00000386213:p.Glu345Gly	Somatic		Capture	Illumina HiSeq	Phase_I	170946834	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	CCDS42773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.86|14.86	2.661735|2.661735	0.47572|0.47572	.|.	.|.	ENSG00000071909|ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231|ENST00000442690	T;T;T;T|.	0.71698|.	-0.59;-0.59;-0.59;-0.59|.	5.97|5.97	5.97|5.97	0.96955|0.96955	Myosin head, motor domain (1);|.	0.132272|.	0.64402|.	D|.	0.000002|.	T|.	0.52191|.	0.1719|.	N|N	0.19112|0.19112	0.55|0.55	0.41035|0.41035	D|D	0.98518|0.98518	P;B;B;P|.	0.39940|.	0.696;0.244;0.351;0.542|.	B;B;B;B|.	0.38755|.	0.268;0.216;0.146;0.281|.	T|.	0.50056|.	-0.8872|.	10|.	0.48119|.	T|.	0.1|.	.|.	16.4534|16.4534	0.84003|0.84003	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	345;345;345;345|.	Q8WXR4-5;B7ZM71;Q8WXR4-4;Q8WXR4|.	.;.;.;MYO3B_HUMAN|.	G|W	345;345;344;354;354|344	ENSP00000386497:E345G;ENSP00000386213:E345G;ENSP00000446237:E354G;ENSP00000335100:E354G|.	ENSP00000314213:E344G|.	E|X	+|+	2|3	0|0	MYO3B|MYO3B	170946834|170946834	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.989000|0.989000	0.77384|0.77384	4.156000|4.156000	0.58138|0.58138	2.285000|2.285000	0.76669|0.76669	0.477000|0.477000	0.44152|0.44152	GAG|TGA		MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1		
TTN	7273	hgsc.bcm.edu	37	2	179479018	179479018	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr2:179479018A>G	ENST00000591111.1	-	212	44407	c.44183T>C	c.(44182-44184)cTt>cCt	p.L14728P	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L7304P|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L16369P|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L13801P|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L7429P|TTN_ENST00000342175.6_Missense_Mutation_p.L7496P|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14728	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.		L -> V (in a lung adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		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)			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)			CCATGTTAGAAGACATGACTC	0.443																																																	0			2											99.0	92.0	94.0					2																	179479018		1990	4176	6166	179187263	SO:0001583	missense	7273			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.44183T>C	2.37:g.179479018A>G	ENSP00000465570:p.Leu14728Pro	Somatic		Capture	Illumina HiSeq	Phase_I	179187263	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		.	.	.	.	.	.	.	.	.	.	A	13.29	2.192736	0.38707	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.55	5.55	0.83447	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55641	0.1933	L	0.52266	1.64	0.58432	D	0.99999	P;P;P;P	0.41188	0.741;0.741;0.741;0.741	P;P;P;P	0.47528	0.549;0.549;0.549;0.549	T	0.59984	-0.7351	9	0.87932	D	0	.	11.716	0.51653	0.8678:0.0:0.0:0.1322	.	7304;7429;7496;14728	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	P	13801;7304;7496;7429;7304	ENSP00000343764:L13801P;ENSP00000434586:L7304P;ENSP00000340554:L7496P;ENSP00000352154:L7429P	ENSP00000340554:L7496P	L	-	2	0	TTN	179187263	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.077000	0.71275	2.234000	0.73211	0.533000	0.62120	CTT		TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179641476	179641476	+	Missense_Mutation	SNP	G	G	C	rs375828531		TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr2:179641476G>C	ENST00000591111.1	-	28	5339	c.5115C>G	c.(5113-5115)ttC>ttG	p.F1705L	TTN-AS1_ENST00000584485.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.F1659L|TTN_ENST00000360870.5_Missense_Mutation_p.F1705L|TTN_ENST00000589042.1_Missense_Mutation_p.F1705L|TTN_ENST00000342992.6_Missense_Mutation_p.F1705L|TTN_ENST00000359218.5_Missense_Mutation_p.F1659L|TTN_ENST00000342175.6_Missense_Mutation_p.F1659L|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12534	Ig-like 8.				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)			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)			GTTTTTTCTTGAAAAATGGTT	0.483																																																	0			2						G	LEU/PHE,LEU/PHE,LEU/PHE,LEU/PHE,LEU/PHE	1,4405	2.1+/-5.4	0,1,2202	90.0	82.0	85.0		4977,5115,5115,4977,4977	0.4	1.0	2		85	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	22,22,22,22,22	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1659/26927,1705/33424,1705/5605,1659/27052,1659/27119	179641476	1,13005	2203	4300	6503	179349721	SO:0001583	missense	7273			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.5115C>G	2.37:g.179641476G>C	ENSP00000465570:p.Phe1705Leu	Somatic		Capture	Illumina HiSeq	Phase_I	179349721	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	8.179	0.793367	0.16327	2.27E-4	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57	5.34	0.436	0.16549	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85461	0.5702	M	0.92122	3.275	0.24529	N	0.994127	D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0	D;D;D;D;D	0.85130	0.992;0.992;0.992;0.992;0.997	T	0.74194	-0.3744	9	0.87932	D	0	.	9.5912	0.39548	0.5017:0.0:0.4983:0.0	.	1659;1659;1659;1705;1705	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	L	1705;1659;1659;1659;1659;1705	ENSP00000343764:F1705L;ENSP00000434586:F1659L;ENSP00000340554:F1659L;ENSP00000352154:F1659L;ENSP00000354117:F1705L	ENSP00000340554:F1659L	F	-	3	2	TTN	179349721	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.753000	0.38359	0.269000	0.21961	-0.150000	0.13652	TTC		TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
INPP1	3628	hgsc.bcm.edu	37	2	191235766	191235766	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr2:191235766T>C	ENST00000322522.4	+	6	1294	c.838T>C	c.(838-840)Tgt>Cgt	p.C280R	INPP1_ENST00000541441.1_Missense_Mutation_p.C280R|INPP1_ENST00000392329.2_Missense_Mutation_p.C280R	NM_002194.3	NP_002185.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	280					dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-1,3,4-trisphosphate 1-phosphatase activity (GO:0052829)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|metal ion binding (GO:0046872)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)			GTCACGTGTGTGTGGAGATCG	0.468																																					Melanoma(130;184 1743 2185 19805 38428)												0			2											138.0	134.0	135.0					2																	191235766		2203	4300	6503	190944011	SO:0001583	missense	3628				CCDS2305.1	2q32	2008-02-07			ENSG00000151689	ENSG00000151689	3.1.3.57		6071	protein-coding gene	gene with protein product		147263				8390685	Standard	NM_002194		Approved		uc010fsb.3	P49441	OTTHUMG00000132672	ENST00000322522.4:c.838T>C	2.37:g.191235766T>C	ENSP00000325423:p.Cys280Arg	Somatic		Capture	Illumina HiSeq	Phase_I	190944011		Missense_Mutation	SNP	ENST00000322522.4	37	CCDS2305.1	.	.	.	.	.	.	.	.	.	.	T	15.09	2.731487	0.48939	.	.	ENSG00000151689	ENST00000392329;ENST00000322522;ENST00000541441	T;T;T	0.48201	0.82;0.82;0.82	5.15	5.15	0.70609	.	0.093053	0.85682	D	0.000000	T	0.37376	0.1001	L	0.55103	1.725	0.80722	D	1	P	0.41313	0.745	B	0.30782	0.12	T	0.25606	-1.0127	10	0.23891	T	0.37	-15.4047	13.0337	0.58859	0.0:0.0:0.0:1.0	.	280	P49441	INPP_HUMAN	R	280	ENSP00000376142:C280R;ENSP00000325423:C280R;ENSP00000440650:C280R	ENSP00000325423:C280R	C	+	1	0	INPP1	190944011	1.000000	0.71417	0.903000	0.35520	0.697000	0.40408	6.676000	0.74498	2.176000	0.68965	0.369000	0.22263	TGT		INPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255932.2		
SPATS2L	26010	hgsc.bcm.edu	37	2	201281142	201281142	+	Silent	SNP	A	A	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr2:201281142A>T	ENST00000358677.5	+	5	436	c.189A>T	c.(187-189)ggA>ggT	p.G63G	SPATS2L_ENST00000409140.3_Silent_p.G63G|SPATS2L_ENST00000409151.1_Silent_p.G71G|SPATS2L_ENST00000451764.2_Silent_p.G63G|SPATS2L_ENST00000409718.1_Silent_p.G63G|SPATS2L_ENST00000409755.3_Silent_p.G93G|SPATS2L_ENST00000360760.5_Silent_p.G63G|SPATS2L_ENST00000409385.1_Silent_p.G3G|SPATS2L_ENST00000409988.3_Silent_p.G63G	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	63						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						ATATGACAGGAAAAAAGAAGG	0.299																																																	0			2											85.0	78.0	80.0					2																	201281142		1805	4065	5870	200989387	SO:0001819	synonymous_variant	26010			AF193059	CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1	2q33.1	2009-06-12			ENSG00000196141	ENSG00000196141			24574	protein-coding gene	gene with protein product	"""DNA polymerase transactivated protein 6"""	613817				11230166	Standard	NM_001100422		Approved	DNAPTP6	uc002uvr.4	Q9NUQ6	OTTHUMG00000154589	ENST00000358677.5:c.189A>T	2.37:g.201281142A>T		Somatic		Capture	Illumina HiSeq	Phase_I	200989387	A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Silent	SNP	ENST00000358677.5	37	CCDS46483.1																																																																																				SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336208.3	NM_015535	
ATIC	471	hgsc.bcm.edu	37	2	216177303	216177303	+	Silent	SNP	C	C	T	rs537063971		TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr2:216177303C>T	ENST00000236959.9	+	2	428	c.102C>T	c.(100-102)tcC>tcT	p.S34S	ATIC_ENST00000435675.1_Silent_p.S33S|ATIC_ENST00000540518.1_5'UTR	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	34					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	TGGTCGCTTCCGGAGGGACTG	0.468			T	ALK	ALCL								C|||	1	0.000199681	0.0	0.0	5008	,	,		17656	0.0		0.0	False		,,,				2504	0.001							Dom	yes		2	2q35	471	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase		L	0			2											89.0	88.0	88.0					2																	216177303		2203	4300	6503	215885548	SO:0001819	synonymous_variant	471				CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"""phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"""	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.102C>T	2.37:g.216177303C>T		Somatic		Capture	Illumina HiSeq	Phase_I	215885548	A8K202|E9PBU3|Q13856|Q53S28	Silent	SNP	ENST00000236959.9	37	CCDS2398.1																																																																																				ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	NM_004044	
ZFAND2B	130617	hgsc.bcm.edu	37	2	220072092	220072092	+	Silent	SNP	C	C	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr2:220072092C>T	ENST00000289528.5	+	2	294	c.99C>T	c.(97-99)tgC>tgT	p.C33C	ZFAND2B_ENST00000409319.1_Silent_p.C33C|ZFAND2B_ENST00000409336.1_Silent_p.C33C|ZFAND2B_ENST00000409206.1_Silent_p.C33C|ZFAND2B_ENST00000409412.1_Silent_p.C33C|ZFAND2B_ENST00000444522.2_Silent_p.C33C|ZFAND2B_ENST00000409097.1_Silent_p.C33C|ZFAND2B_ENST00000468301.1_3'UTR|ZFAND2B_ENST00000409217.1_Silent_p.C33C|ZFAND2B_ENST00000409594.1_Silent_p.C33C	NM_001270998.1|NM_001270999.1|NM_138802.2	NP_001257927.1|NP_001257928.1|NP_620157.1	Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	33						endoplasmic reticulum (GO:0005783)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCATCTTCTGCGCAGACCATG	0.557																																																	0			2											113.0	103.0	106.0					2																	220072092		2203	4300	6503	219780336	SO:0001819	synonymous_variant	130617			AK074571	CCDS2435.1, CCDS74656.1	2q35	2010-04-23	2005-08-22		ENSG00000158552	ENSG00000158552		"""Zinc fingers, AN1-type domain containing"""	25206	protein-coding gene	gene with protein product	"""arsenite inducible RNA associated protein-like"""	613474	"""zinc finger, AN1-type 2B"""			18467495	Standard	NM_138802		Approved	AIRAPL	uc002vka.4	Q8WV99	OTTHUMG00000133135	ENST00000289528.5:c.99C>T	2.37:g.220072092C>T		Somatic		Capture	Illumina HiSeq	Phase_I	219780336	Q8NB98	Silent	SNP	ENST00000289528.5	37	CCDS2435.1																																																																																				ZFAND2B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256824.2	NM_138802	
PTPRN	5798	hgsc.bcm.edu	37	2	220164816	220164816	+	Missense_Mutation	SNP	C	C	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr2:220164816C>A	ENST00000295718.2	-	9	1567	c.1327G>T	c.(1327-1329)Gtc>Ttc	p.V443F	PTPRN_ENST00000423636.2_Missense_Mutation_p.V353F|PTPRN_ENST00000409251.3_Missense_Mutation_p.V443F|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	443					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		TCTAGCAGGACAGGTGTCACA	0.627																																																	0			2											64.0	73.0	70.0					2																	220164816		2203	4300	6503	219873060	SO:0001583	missense	5798				CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1327G>T	2.37:g.220164816C>A	ENSP00000295718:p.Val443Phe	Somatic		Capture	Illumina HiSeq	Phase_I	219873060	B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.471869	0.26423	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.03860	3.78;3.82;3.82	4.36	1.51	0.23008	.	0.307244	0.23463	N	0.047907	T	0.02888	0.0086	N	0.24115	0.695	0.21861	N	0.999502	B;P	0.35383	0.437;0.498	B;B	0.30572	0.117;0.107	T	0.42292	-0.9460	10	0.56958	D	0.05	.	4.9505	0.14011	0.0:0.577:0.1559:0.2671	.	443;443	Q6NSL1;Q16849	.;PTPRN_HUMAN	F	443;443;443;353	ENSP00000386638:V443F;ENSP00000295718:V443F;ENSP00000444244:V353F	ENSP00000295718:V443F	V	-	1	0	PTPRN	219873060	0.053000	0.20554	0.238000	0.24106	0.588000	0.36517	0.694000	0.25512	0.106000	0.17784	0.561000	0.74099	GTC		PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2		
OBSL1	23363	hgsc.bcm.edu	37	2	220421205	220421205	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr2:220421205G>A	ENST00000404537.1	-	13	4363	c.4307C>T	c.(4306-4308)aCg>aTg	p.T1436M	OBSL1_ENST00000603926.1_Missense_Mutation_p.T1436M|OBSL1_ENST00000265317.5_Missense_Mutation_p.T335M|RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000265318.4_Intron|OBSL1_ENST00000373876.1_Missense_Mutation_p.T1344M	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1436	Ig-like 12.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		ACTTGTGGCCGTGCTCCCTGC	0.597																																																	0			2											80.0	89.0	86.0					2																	220421205		2047	4175	6222	220129449	SO:0001583	missense	23363			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.4307C>T	2.37:g.220421205G>A	ENSP00000385636:p.Thr1436Met	Somatic		Capture	Illumina HiSeq	Phase_I	220129449	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	CCDS46520.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.897|2.897	-0.228430|-0.228430	0.06022|0.06022	.|.	.|.	ENSG00000124006|ENSG00000124006	ENST00000456147|ENST00000404537;ENST00000373876;ENST00000265317	.|T;T;T	.|0.67523	.|-0.27;-0.27;-0.27	4.51|4.51	2.6|2.6	0.31112|0.31112	.|Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|.	.|.	.|.	.|.	T|T	0.53061|0.53061	0.1773|0.1773	L|L	0.41906|0.41906	1.305|1.305	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.34103	.|0.437;0.131;0.061;0.254	.|B;B;B;B	.|0.32677	.|0.15;0.097;0.072;0.097	T|T	0.44065|0.44065	-0.9352|-0.9352	5|9	.|0.48119	.|T	.|0.1	.|.	5.8871|5.8871	0.18888|0.18888	0.5408:0.0:0.4592:0.0|0.5408:0.0:0.4592:0.0	.|.	.|243;1437;1436;335	.|B7Z5P5;A4KVA4;O75147;E7ER99	.|.;.;OBSL1_HUMAN;.	W|M	338|1436;1344;335	.|ENSP00000385636:T1436M;ENSP00000362983:T1344M;ENSP00000265317:T335M	.|ENSP00000265317:T335M	R|T	-|-	1|2	2|0	OBSL1|OBSL1	220129449|220129449	0.003000|0.003000	0.15002|0.15002	0.001000|0.001000	0.08648|0.08648	0.016000|0.016000	0.09150|0.09150	1.510000|1.510000	0.35790|0.35790	0.486000|0.486000	0.27676|0.27676	0.491000|0.491000	0.48974|0.48974	CGG|ACG		OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1		
SCLY	51540	hgsc.bcm.edu	37	2	238991893	238991893	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr2:238991893A>G	ENST00000555827.1	+	7	846	c.782A>G	c.(781-783)tAt>tGt	p.Y261C	SCLY_ENST00000422984.2_Missense_Mutation_p.Y167C|SCLY_ENST00000254663.6_Missense_Mutation_p.Y269C|SCLY_ENST00000373332.3_Missense_Mutation_p.Y179C|SCLY_ENST00000409736.2_Missense_Mutation_p.Y261C|SCLY_ENST00000429612.2_Intron			Q96I15	SCLY_HUMAN	selenocysteine lyase	261					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)	pyridoxal phosphate binding (GO:0030170)|selenocysteine lyase activity (GO:0009000)|transferase activity (GO:0016740)	p.Y261F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		TTCCAGTTTTATGGTCCCAGG	0.443																																					Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)												1	Substitution - Missense(1)	ovary(1)	2											149.0	136.0	140.0					2																	238991893		2203	4300	6503	238656632	SO:0001583	missense	51540			AF175767	CCDS2524.1, CCDS2524.2	2q37.3	2008-02-05			ENSG00000132330	ENSG00000132330			18161	protein-coding gene	gene with protein product	"""putative selenocysteine lyase"""	611056				10692412	Standard	NM_016510		Approved	SCL	uc010fyv.4	Q96I15	OTTHUMG00000133336	ENST00000555827.1:c.782A>G	2.37:g.238991893A>G	ENSP00000450613:p.Tyr261Cys	Somatic		Capture	Illumina HiSeq	Phase_I	238656632	B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7	Missense_Mutation	SNP	ENST00000555827.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.31|15.31	2.794770|2.794770	0.50102|0.50102	.|.	.|.	ENSG00000132330|ENSG00000132330	ENST00000433750|ENST00000254663;ENST00000555827;ENST00000373332;ENST00000409736;ENST00000422984;ENST00000450965	.|T;T;D;D;T;D	.|0.88124	.|1.84;1.84;-2.34;-2.34;1.84;-2.34	5.79|5.79	4.64|4.64	0.57946|0.57946	.|Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94128|0.94128	0.8117|0.8117	M|M	0.91459|0.91459	3.21|3.21	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;0.998	D|D	0.94211|0.94211	0.7459|0.7459	5|10	.|0.87932	.|D	.|0	-24.5411|-24.5411	10.9022|10.9022	0.47058|0.47058	0.9255:0.0:0.0745:0.0|0.9255:0.0:0.0745:0.0	.|.	.|167;261;261	.|E7ESG3;Q96I15;Q96I15-2	.|.;SCLY_HUMAN;.	V|C	3|269;261;179;261;167;91	.|ENSP00000254663:Y269C;ENSP00000450613:Y261C;ENSP00000362429:Y179C;ENSP00000387162:Y261C;ENSP00000416865:Y167C;ENSP00000414053:Y91C	.|ENSP00000254663:Y261C	M|Y	+|+	1|2	0|0	SCLY|SCLY	238656632|238656632	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.258000|0.258000	0.26162|0.26162	8.427000|8.427000	0.90275|0.90275	1.022000|1.022000	0.39626|0.39626	-0.256000|-0.256000	0.11100|0.11100	ATG|TAT		SCLY-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_016510	
NEU4	129807	hgsc.bcm.edu	37	2	242757596	242757596	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr2:242757596C>T	ENST00000391969.2	+	5	1388	c.677C>T	c.(676-678)gCg>gTg	p.A226V	NEU4_ENST00000325935.6_Missense_Mutation_p.A239V|NEU4_ENST00000404257.1_Missense_Mutation_p.A238V|NEU4_ENST00000407683.1_Missense_Mutation_p.A226V|NEU4_ENST00000405370.1_Missense_Mutation_p.A226V	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	226					ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		TGCCAGCTGGCGGCGGTGGAC	0.697																																																	0			2											26.0	20.0	22.0					2																	242757596		2189	4287	6476	242406269	SO:0001583	missense	129807			BC012899	CCDS2553.1, CCDS54441.1, CCDS54442.1	2q37.3	2008-02-05			ENSG00000204099	ENSG00000204099			21328	protein-coding gene	gene with protein product		608527					Standard	NM_001167600		Approved		uc010fzr.3	Q8WWR8	OTTHUMG00000133412	ENST00000391969.2:c.677C>T	2.37:g.242757596C>T	ENSP00000375830:p.Ala226Val	Somatic		Capture	Illumina HiSeq	Phase_I	242406269	A8K056|J3KNJ5|Q96D64	Missense_Mutation	SNP	ENST00000391969.2	37	CCDS54442.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.915|9.915	1.210709|1.210709	0.22289|0.22289	.|.	.|.	ENSG00000204099|ENSG00000204099	ENST00000407683;ENST00000405370;ENST00000472793;ENST00000404257;ENST00000391969;ENST00000325935;ENST00000420288|ENST00000415936;ENST00000426032	D;D;D;D;D;D|T;T	0.82081|0.39787	-1.57;-1.57;-1.57;-1.57;-1.57;-1.57|1.06;1.07	4.55|4.55	2.7|2.7	0.31948|0.31948	Neuraminidase (2);|.	0.069772|.	0.64402|.	D|.	0.000017|.	T|T	0.26448|0.26448	0.0646|0.0646	N|N	0.11560|0.11560	0.145|0.145	0.36460|0.36460	D|D	0.866642|0.866642	P;P;D|.	0.69078|.	0.821;0.557;0.997|.	B;B;P|.	0.61874|.	0.1;0.061;0.895|.	T|T	0.28267|0.28267	-1.0049|-1.0049	10|7	0.20519|0.66056	T|D	0.43|0.02	-20.1237|-20.1237	5.0162|5.0162	0.14337|0.14337	0.0:0.5991:0.0:0.4009|0.0:0.5991:0.0:0.4009	.|.	238;238;226|.	A8K211;Q8WWR8-2;Q8WWR8|.	.;.;NEUR4_HUMAN|.	V|W	226;226;236;238;226;239;226|141;153	ENSP00000385402:A226V;ENSP00000384804:A226V;ENSP00000385149:A238V;ENSP00000375830:A226V;ENSP00000320318:A239V;ENSP00000388707:A226V|ENSP00000397167:R141W;ENSP00000406678:R153W	ENSP00000320318:A239V|ENSP00000397167:R141W	A|R	+|+	2|1	0|2	NEU4|NEU4	242406269|242406269	0.868000|0.868000	0.29978|0.29978	0.885000|0.885000	0.34714|0.34714	0.160000|0.160000	0.22226|0.22226	1.345000|1.345000	0.33953|0.33953	2.076000|2.076000	0.62316|0.62316	0.443000|0.443000	0.29094|0.29094	GCG|CGG		NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257270.2	NM_080741	
DMRT3	58524	hgsc.bcm.edu	37	9	990868	990868	+	Missense_Mutation	SNP	C	C	T	rs141821476	byFrequency	TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr9:990868C>T	ENST00000190165.2	+	2	1320	c.1282C>T	c.(1282-1284)Cgc>Tgc	p.R428C		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	428					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R428C(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		CCTTCCTGCCCGCGCCACGGA	0.552																																																	2	Substitution - Missense(2)	large_intestine(1)|central_nervous_system(1)	9						C	CYS/ARG	5,4401	9.9+/-24.2	0,5,2198	85.0	72.0	76.0		1282	5.2	0.1	9	dbSNP_134	76	0,8600		0,0,4300	yes	missense	DMRT3	NM_021240.2	180	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	probably-damaging	428/473	990868	5,13001	2203	4300	6503	980868	SO:0001583	missense	58524			AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.1282C>T	9.37:g.990868C>T	ENSP00000190165:p.Arg428Cys	Somatic		Capture	Illumina HiSeq	Phase_I	980868	Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.518218	0.44763	0.001135	0.0	ENSG00000064218	ENST00000190165	T	0.39592	1.07	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.53222	0.1783	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.56044	-0.8044	10	0.87932	D	0	-34.3542	13.7296	0.62779	0.1538:0.8462:0.0:0.0	.	428	Q9NQL9	DMRT3_HUMAN	C	428	ENSP00000190165:R428C	ENSP00000190165:R428C	R	+	1	0	DMRT3	980868	0.998000	0.40836	0.096000	0.21009	0.357000	0.29423	4.120000	0.57897	2.424000	0.82194	0.655000	0.94253	CGC		DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240	
ADAMTSL1	92949	hgsc.bcm.edu	37	9	18474257	18474257	+	Silent	SNP	T	T	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr9:18474257T>A	ENST00000380548.4	+	1	366	c.27T>A	c.(25-27)ccT>ccA	p.P9P	ADAMTSL1_ENST00000276935.6_Silent_p.P9P|ADAMTSL1_ENST00000327883.7_Silent_p.P9P|ADAMTSL1_ENST00000380566.4_Silent_p.P9P|ADAMTSL1_ENST00000431052.2_Silent_p.P9P|ADAMTSL1_ENST00000380570.4_Silent_p.P9P	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	9						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGGCAACTCCTGGCACACTGC	0.522																																																	0			9											203.0	171.0	182.0					9																	18474257		2203	4300	6503	18464257	SO:0001819	synonymous_variant	92949			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.27T>A	9.37:g.18474257T>A		Somatic		Capture	Illumina HiSeq	Phase_I	18464257	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	37	CCDS47954.1																																																																																				ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1		
TAF1L	138474	hgsc.bcm.edu	37	9	32633292	32633292	+	Silent	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr9:32633292A>G	ENST00000242310.4	-	1	2375	c.2286T>C	c.(2284-2286)ctT>ctC	p.L762L	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	762			L -> I (in a lung adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGTTGTTCTCAAGTGCCTGCA	0.433																																																	0			9											188.0	184.0	185.0					9																	32633292		2203	4300	6503	32623292	SO:0001819	synonymous_variant	138474			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2286T>C	9.37:g.32633292A>G		Somatic		Capture	Illumina HiSeq	Phase_I	32623292	Q0VG57	Silent	SNP	ENST00000242310.4	37	CCDS35003.1																																																																																				TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2		
KIAA1161	57462	hgsc.bcm.edu	37	9	34371167	34371167	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr9:34371167G>T	ENST00000297625.7	-	2	1898	c.1673C>A	c.(1672-1674)cCg>cAg	p.P558Q		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	592					carbohydrate metabolic process (GO:0005975)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|skeletal muscle fiber development (GO:0048741)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		GCGCCAGGGCGGGATAGAGAA	0.687																																																	0			9											15.0	19.0	18.0					9																	34371167		1996	4141	6137	34361167	SO:0001583	missense	57462			AB032987		9p11.2	2009-11-06			ENSG00000164976	ENSG00000164976			19918	protein-coding gene	gene with protein product						10574461	Standard	XM_006716808		Approved	NET37	uc003zue.4	Q6NSJ0	OTTHUMG00000019816	ENST00000297625.7:c.1673C>A	9.37:g.34371167G>T	ENSP00000297625:p.Pro558Gln	Somatic		Capture	Illumina HiSeq	Phase_I	34361167	Q5T587|Q5T588|Q9ULQ9	Missense_Mutation	SNP	ENST00000297625.7	37		.	.	.	.	.	.	.	.	.	.	G	20.5	3.995744	0.74703	.	.	ENSG00000164976	ENST00000297625	D	0.90563	-2.69	5.56	5.56	0.83823	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.94112	0.8112	L	0.55481	1.735	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	D	0.94094	0.7356	10	0.59425	D	0.04	-30.666	18.5218	0.90956	0.0:0.0:1.0:0.0	.	592	Q6NSJ0	K1161_HUMAN	Q	558	ENSP00000297625:P558Q	ENSP00000297625:P558Q	P	-	2	0	KIAA1161	34361167	1.000000	0.71417	0.743000	0.31040	0.989000	0.77384	9.869000	0.99810	2.637000	0.89404	0.455000	0.32223	CCG		KIAA1161-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000052158.1	XM_351807	
SPATA31A7	26165	hgsc.bcm.edu	37	9	65507537	65507537	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr9:65507537T>C	ENST00000355045.2	-	3	306	c.278A>G	c.(277-279)gAg>gGg	p.E93G	SPATA31A7_ENST00000491812.2_5'UTR	NM_015667.2	NP_056482.2	Q8IWB4	S31A7_HUMAN	SPATA31 subfamily A, member 7	93					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GTCCGAAGTCTCCTCCAGGCC	0.627																																																	0			9											23.0	26.0	25.0					9																	65507537		980	2421	3401	65247357	SO:0001583	missense	26165				CCDS75838.1	9q12	2014-04-11	2012-10-12	2012-10-12	ENSG00000234734	ENSG00000276040			32007	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A7"""	FAM75A7		20850414	Standard	NM_015667		Approved	OTTHUMG00000013196		Q8IWB4	OTTHUMG00000188536	ENST00000355045.2:c.278A>G	9.37:g.65507537T>C	ENSP00000347153:p.Glu93Gly	Somatic		Capture	Illumina HiSeq	Phase_I	65247357	Q5TZK4|Q9Y4Q5	Missense_Mutation	SNP	ENST00000355045.2	37	CCDS43825.1	.	.	.	.	.	.	.	.	.	.	T	3.672	-0.067359	0.07273	.	.	ENSG00000234734	ENST00000355045	T	0.10763	2.84	1.58	-1.34	0.09143	.	1.309130	0.05490	N	0.556445	T	0.06690	0.0171	N	0.17764	0.52	0.09310	N	1	B	0.22683	0.073	B	0.22880	0.042	T	0.41538	-0.9503	10	0.72032	D	0.01	.	1.5239	0.02521	0.3062:0.2124:0.0:0.4814	.	93	Q8IWB4	F75A7_HUMAN	G	93	ENSP00000347153:E93G	ENSP00000347153:E93G	E	-	2	0	FAM75A7	65247357	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-3.200000	0.00561	-0.345000	0.08325	0.136000	0.15936	GAG		SPATA31A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036952.1	NM_015667	
SMC5	23137	hgsc.bcm.edu	37	9	72929699	72929699	+	Silent	SNP	T	T	C	rs150292183		TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr9:72929699T>C	ENST00000361138.5	+	12	1678	c.1620T>C	c.(1618-1620)gcT>gcC	p.A540A		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	540	Flexible hinge.				cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						CTGTTATTGCTCCCAAGAGTT	0.264																																																	0			9						T		1,4397	2.1+/-5.4	0,1,2198	49.0	51.0	50.0		1620	1.0	1.0	9	dbSNP_134	50	2,8586	2.2+/-6.3	0,2,4292	no	coding-synonymous	SMC5	NM_015110.3		0,3,6490	CC,CT,TT		0.0233,0.0227,0.0231		540/1102	72929699	3,12983	2199	4294	6493	72119519	SO:0001819	synonymous_variant	23137			AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"""Structural maintenance of chromosomes proteins"""	20465	protein-coding gene	gene with protein product		609386	"""SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"""	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.1620T>C	9.37:g.72929699T>C		Somatic		Capture	Illumina HiSeq	Phase_I	72119519	A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Silent	SNP	ENST00000361138.5	37	CCDS6632.1																																																																																				SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1	NM_015110	
ZCCHC6	79670	hgsc.bcm.edu	37	9	88937965	88937965	+	Silent	SNP	G	G	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr9:88937965G>A	ENST00000375963.3	-	13	2872	c.2700C>T	c.(2698-2700)ggC>ggT	p.G900G	ZCCHC6_ENST00000375961.2_Silent_p.G900G|ZCCHC6_ENST00000375960.2_Silent_p.G777G|ZCCHC6_ENST00000277141.6_Silent_p.G189G|ZCCHC6_ENST00000469004.1_5'Flank	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	900	Glu-rich.			G -> V (in Ref. 1; CAI45944). {ECO:0000305}.	RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.G900G(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TAGCAGCTTCGCCTAACTCAT	0.423																																																	2	Substitution - coding silent(2)	ovary(1)|endometrium(1)	9											173.0	147.0	156.0					9																	88937965		2203	4300	6503	88127785	SO:0001819	synonymous_variant	79670			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.2700C>T	9.37:g.88937965G>A		Somatic		Capture	Illumina HiSeq	Phase_I	88127785	Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Silent	SNP	ENST00000375963.3	37	CCDS35057.1																																																																																				ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617	
NUTM2G	441457	hgsc.bcm.edu	37	9	99694095	99694095	+	Silent	SNP	C	C	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr9:99694095C>T	ENST00000372322.3	+	2	129	c.108C>T	c.(106-108)ggC>ggT	p.G36G	HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000354649.3_Silent_p.G36G	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	36																	CCTCTCCCGGCCCAACACACA	0.657																																																	0			9											31.0	41.0	38.0					9																	99694095		1964	4161	6125	98733916	SO:0001819	synonymous_variant	441457				CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member G"""	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.108C>T	9.37:g.99694095C>T		Somatic		Capture	Illumina HiSeq	Phase_I	98733916	A6NNI5|Q5VZR3	Silent	SNP	ENST00000372322.3	37	CCDS55329.1																																																																																				NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053291.2	NM_001170741	
GABBR2	9568	hgsc.bcm.edu	37	9	101340282	101340282	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr9:101340282C>A	ENST00000259455.2	-	2	853	c.394G>T	c.(394-396)Gga>Tga	p.G132*		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	132					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CAGACGCCTCCAAACACCATC	0.498																																																	0			9											207.0	189.0	195.0					9																	101340282		2203	4300	6503	100380103	SO:0001587	stop_gained	9568			AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.394G>T	9.37:g.101340282C>A	ENSP00000259455:p.Gly132*	Somatic		Capture	Illumina HiSeq	Phase_I	100380103	O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Nonsense_Mutation	SNP	ENST00000259455.2	37	CCDS6736.1	.	.	.	.	.	.	.	.	.	.	c	42	9.588533	0.99213	.	.	ENSG00000136928	ENST00000259455	.	.	.	4.59	4.59	0.56863	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.9707	0.71232	0.0:1.0:0.0:0.0	.	.	.	.	X	132	.	ENSP00000259455:G132X	G	-	1	0	GABBR2	100380103	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.724000	0.84798	2.113000	0.64589	0.550000	0.68814	GGA		GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1		
RNF20	56254	hgsc.bcm.edu	37	9	104309422	104309422	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr9:104309422A>G	ENST00000389120.3	+	8	988	c.898A>G	c.(898-900)Aat>Gat	p.N300D	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	300					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TCTGTAGGTGAATTCCAAAGG	0.403																																																	0			9											107.0	103.0	104.0					9																	104309422		2203	4300	6503	103349243	SO:0001583	missense	56254			AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.898A>G	9.37:g.104309422A>G	ENSP00000373772:p.Asn300Asp	Somatic		Capture	Illumina HiSeq	Phase_I	103349243	A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	A	12.01	1.809203	0.31961	.	.	ENSG00000155827	ENST00000389120	T	0.31769	1.48	5.84	5.84	0.93424	.	0.087718	0.85682	D	0.000000	T	0.47192	0.1432	L	0.49126	1.545	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	T	0.26538	-1.0100	10	0.14656	T	0.56	-28.4988	15.8917	0.79303	1.0:0.0:0.0:0.0	.	300	Q5VTR2	BRE1A_HUMAN	D	300	ENSP00000373772:N300D	ENSP00000373772:N300D	N	+	1	0	RNF20	103349243	1.000000	0.71417	1.000000	0.80357	0.101000	0.19017	8.927000	0.92846	2.228000	0.72767	0.533000	0.62120	AAT		RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592	
CDK5RAP2	55755	hgsc.bcm.edu	37	9	123210314	123210314	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr9:123210314T>C	ENST00000349780.4	-	22	3063	c.2884A>G	c.(2884-2886)Acg>Gcg	p.T962A	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.T962A|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.T930A|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.T962A	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	962	Interaction with MAPRE1.				brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)	p.T962S(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TGCAGCTGCGTCACCACCTCC	0.483																																																	1	Substitution - Missense(1)	lung(1)	9											103.0	105.0	104.0					9																	123210314		2203	4300	6503	122250135	SO:0001583	missense	55755			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.2884A>G	9.37:g.123210314T>C	ENSP00000343818:p.Thr962Ala	Somatic		Capture	Illumina HiSeq	Phase_I	122250135	Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.024559	0.00414	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000425647;ENST00000345313	T;T;T;T;T;T	0.20598	4.06;3.89;4.03;3.93;2.38;2.06	4.83	1.42	0.22433	.	0.644384	0.13550	N	0.379597	T	0.05364	0.0142	N	0.01168	-0.975	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.04013	0.0;0.0;0.0;0.0;0.0;0.001	T	0.40572	-0.9556	10	0.14252	T	0.57	.	3.6032	0.08032	0.1467:0.5128:0.2432:0.0973	.	13;731;930;962;962;356	Q5JTU8;Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8;B1AMJ5	.;.;.;.;CK5P2_HUMAN;.	A	930;962;962;962;356;13;734	ENSP00000354065:T930A;ENSP00000352258:T962A;ENSP00000343818:T962A;ENSP00000353317:T962A;ENSP00000400395:T356A;ENSP00000409941:T13A	ENSP00000341695:T734A	T	-	1	0	CDK5RAP2	122250135	0.000000	0.05858	0.903000	0.35520	0.209000	0.24338	-0.676000	0.05221	1.004000	0.39156	-0.621000	0.04028	ACG		CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249	
CDK5RAP2	55755	hgsc.bcm.edu	37	9	123222897	123222897	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr9:123222897C>T	ENST00000349780.4	-	19	2334	c.2155G>A	c.(2155-2157)Gac>Aac	p.D719N	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.D719N|CDK5RAP2_ENST00000360822.3_Intron|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.D719N	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	719					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TTAATCTCGTCATCCTCCCCA	0.443																																																	0			9											221.0	185.0	197.0					9																	123222897		2203	4300	6503	122262718	SO:0001583	missense	55755			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.2155G>A	9.37:g.123222897C>T	ENSP00000343818:p.Asp719Asn	Somatic		Capture	Illumina HiSeq	Phase_I	122262718	Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316207	0.60524	.	.	ENSG00000136861	ENST00000359309;ENST00000349780;ENST00000360190	T;T;T	0.03717	3.83;3.96;3.86	5.66	5.66	0.87406	.	0.316532	0.27076	N	0.021043	T	0.09335	0.0230	L	0.29908	0.895	0.26274	N	0.978388	D;P	0.76494	0.999;0.906	D;P	0.64321	0.924;0.521	T	0.34650	-0.9820	10	0.25751	T	0.34	.	16.4703	0.84109	0.0:1.0:0.0:0.0	.	719;719	Q96SN8-4;Q96SN8	.;CK5P2_HUMAN	N	719	ENSP00000352258:D719N;ENSP00000343818:D719N;ENSP00000353317:D719N	ENSP00000343818:D719N	D	-	1	0	CDK5RAP2	122262718	0.022000	0.18835	0.534000	0.28014	0.500000	0.33767	1.865000	0.39479	2.693000	0.91896	0.650000	0.86243	GAC		CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249	
RC3H2	54542	hgsc.bcm.edu	37	9	125622278	125622278	+	Silent	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr9:125622278A>G	ENST00000373670.1	-	10	2367	c.1767T>C	c.(1765-1767)taT>taC	p.Y589Y	RC3H2_ENST00000423239.2_Silent_p.Y589Y|RC3H2_ENST00000357244.2_Silent_p.Y589Y			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	589	Pro-rich.				B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						AATGCGGAGGATATACTGGTA	0.433																																																	0			9											213.0	211.0	211.0					9																	125622278		1843	4097	5940	124662099	SO:0001819	synonymous_variant	54542			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.1767T>C	9.37:g.125622278A>G		Somatic		Capture	Illumina HiSeq	Phase_I	124662099	Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Silent	SNP	ENST00000373670.1	37	CCDS43874.1																																																																																				RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835	
ABL1	25	hgsc.bcm.edu	37	9	133730245	133730245	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr9:133730245C>T	ENST00000318560.5	+	3	692	c.311C>T	c.(310-312)aCc>aTc	p.T104I		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	104	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	GAAGCCCAAACCAAAAATGGC	0.502			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																			Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	0			9											101.0	88.0	93.0					9																	133730245		2203	4300	6503	132720066	SO:0001583	missense	25			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.311C>T	9.37:g.133730245C>T	ENSP00000323315:p.Thr104Ile	Somatic		Capture	Illumina HiSeq	Phase_I	132720066	A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437058	0.83885	.	.	ENSG00000097007	ENST00000372348;ENST00000438426;ENST00000318560	T;T	0.47528	0.84;0.84	5.67	5.67	0.87782	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.40040	0.1101	N	0.16201	0.385	0.80722	D	1	B;B	0.31413	0.322;0.322	B;B	0.37239	0.244;0.244	T	0.42155	-0.9468	10	0.87932	D	0	.	18.8246	0.92111	0.0:1.0:0.0:0.0	.	104;141	P00519;Q59FK4	ABL1_HUMAN;.	I	123;150;104	ENSP00000361423:T123I;ENSP00000323315:T104I	ENSP00000323315:T104I	T	+	2	0	ABL1	132720066	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.775000	0.85489	2.677000	0.91161	0.638000	0.83543	ACC		ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313	
FAM163B	642968	hgsc.bcm.edu	37	9	136444471	136444471	+	Silent	SNP	C	C	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr9:136444471C>T	ENST00000496132.1	-	3	418	c.174G>A	c.(172-174)ctG>ctA	p.L58L	FAM163B_ENST00000356873.3_Silent_p.L58L			P0C2L3	F163B_HUMAN	family with sequence similarity 163, member B	58						integral component of membrane (GO:0016021)				large_intestine(1)	1						GGTTGGAGTGCAGCGGGGGCA	0.677																																																	0			9											1.0	1.0	1.0					9																	136444471		453	1263	1716	135434292	SO:0001819	synonymous_variant	642968			BX629352	CCDS35171.1	9q34.2	2008-06-05	2008-06-05	2008-06-05	ENSG00000196990	ENSG00000196990			33277	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 166"""	C9orf166			Standard	NM_001080515		Approved		uc011mdm.2	P0C2L3	OTTHUMG00000159557	ENST00000496132.1:c.174G>A	9.37:g.136444471C>T		Somatic		Capture	Illumina HiSeq	Phase_I	135434292	B2RUZ5	Silent	SNP	ENST00000496132.1	37	CCDS35171.1																																																																																				FAM163B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356190.1	NM_001080515	
SACS	26278	hgsc.bcm.edu	37	13	23932592	23932592	+	Silent	SNP	C	C	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr13:23932592C>T	ENST00000382292.3	-	6	759	c.486G>A	c.(484-486)gcG>gcA	p.A162A	SACS_ENST00000382298.3_Silent_p.A162A|SACS_ENST00000402364.1_5'UTR			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	162					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGGTGAAAACCGCGTTGTTGT	0.453																																																	0			13											130.0	128.0	129.0					13																	23932592		2203	4300	6503	22830592	SO:0001819	synonymous_variant	26278			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.486G>A	13.37:g.23932592C>T		Somatic		Capture	Illumina HiSeq	Phase_I	22830592	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	8.459	0.854964	0.17106	.	.	ENSG00000151835	ENST00000455470	.	.	.	5.64	-11.3	0.00108	.	.	.	.	.	T	0.30916	0.0780	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41324	-0.9515	4	.	.	.	.	1.4762	0.02426	0.2045:0.169:0.1509:0.4755	.	.	.	.	S	62	.	.	G	-	1	0	SACS	22830592	0.000000	0.05858	0.000000	0.03702	0.825000	0.46686	-2.814000	0.00753	-2.871000	0.00323	-0.140000	0.14226	GGT		SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
LNX2	222484	hgsc.bcm.edu	37	13	28127354	28127354	+	Missense_Mutation	SNP	C	C	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr13:28127354C>G	ENST00000316334.3	-	8	1898	c.1769G>C	c.(1768-1770)gGg>gCg	p.G590A		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	590					protein homooligomerization (GO:0051260)		zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		CCTGGGAAGCCCAAGCCACAT	0.478																																																	0			13											88.0	79.0	82.0					13																	28127354		2203	4300	6503	27025354	SO:0001583	missense	222484			AL138699	CCDS9323.1	13q12.2	2013-01-09	2004-01-22	2004-01-23	ENSG00000139517	ENSG00000139517		"""RING-type (C3HC4) zinc fingers"""	20421	protein-coding gene	gene with protein product		609733	"""PDZ domain containing ring finger 1"""	PDZRN1			Standard	NM_153371		Approved	MGC46315	uc001url.4	Q8N448	OTTHUMG00000016634	ENST00000316334.3:c.1769G>C	13.37:g.28127354C>G	ENSP00000325929:p.Gly590Ala	Somatic		Capture	Illumina HiSeq	Phase_I	27025354	Q5W0P0|Q6ZMH2|Q96SH4	Missense_Mutation	SNP	ENST00000316334.3	37	CCDS9323.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112029	0.77210	.	.	ENSG00000139517	ENST00000316334	T	0.05855	3.38	5.96	5.1	0.69264	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	T	0.10637	0.0260	M	0.67953	2.075	0.80722	D	1	B	0.20671	0.047	B	0.24006	0.05	T	0.08659	-1.0711	10	0.17369	T	0.5	.	17.0675	0.86563	0.0:0.873:0.127:0.0	.	590	Q8N448	LNX2_HUMAN	A	590	ENSP00000325929:G590A	ENSP00000325929:G590A	G	-	2	0	LNX2	27025354	1.000000	0.71417	0.813000	0.32504	0.993000	0.82548	7.484000	0.81180	1.481000	0.48307	0.585000	0.79938	GGG		LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044302.2		
FLT3	2322	hgsc.bcm.edu	37	13	28592622	28592622	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr13:28592622G>T	ENST00000241453.7	-	20	2604	c.2523C>A	c.(2521-2523)aaC>aaA	p.N841K	FLT3_ENST00000537084.1_Intron|FLT3_ENST00000380982.4_Missense_Mutation_p.N841K	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	841	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.N841K(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGACAACATAGTTGGAATCAC	0.453			"""Mis, O"""		"""AML, ALL"""																																			Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	13											182.0	140.0	154.0					13																	28592622		2203	4300	6503	27490622	SO:0001583	missense	2322			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2523C>A	13.37:g.28592622G>T	ENSP00000241453:p.Asn841Lys	Somatic		Capture	Illumina HiSeq	Phase_I	27490622	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117472	0.77323	.	.	ENSG00000122025	ENST00000241453;ENST00000380982	D;D	0.82344	-1.6;-1.6	5.84	5.0	0.66597	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.069113	0.64402	D	0.000009	T	0.81278	0.4789	L	0.33293	1	0.80722	D	1	P	0.44986	0.847	P	0.48270	0.572	D	0.83526	0.0088	10	0.87932	D	0	.	14.8829	0.70547	0.0687:0.0:0.9313:0.0	.	841	P36888	FLT3_HUMAN	K	841	ENSP00000241453:N841K;ENSP00000370369:N841K	ENSP00000241453:N841K	N	-	3	2	FLT3	27490622	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.788000	0.62439	1.488000	0.48433	0.556000	0.70494	AAC		FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2		
FLT1	2321	hgsc.bcm.edu	37	13	29001453	29001453	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr13:29001453T>C	ENST00000282397.4	-	10	1530	c.1279A>G	c.(1279-1281)Aaa>Gaa	p.K427E	FLT1_ENST00000539099.1_Missense_Mutation_p.K427E|FLT1_ENST00000541932.1_Missense_Mutation_p.K427E	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	427					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|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 vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATCTGGGGTTTCACTGGAAAG	0.502																																																	0			13											66.0	60.0	62.0					13																	29001453		2203	4300	6503	27899453	SO:0001583	missense	2321			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1279A>G	13.37:g.29001453T>C	ENSP00000282397:p.Lys427Glu	Somatic		Capture	Illumina HiSeq	Phase_I	27899453	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.665237	0.88251	.	.	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000539099	T;T;T	0.36157	1.27;1.27;1.52	5.9	5.9	0.94986	Immunoglobulin-like fold (1);	0.104175	0.64402	D	0.000005	T	0.56645	0.1999	M	0.70595	2.14	0.53688	D	0.999975	D;D;D;D	0.67145	0.996;0.996;0.996;0.992	D;D;D;P	0.65987	0.94;0.94;0.919;0.872	T	0.52358	-0.8586	10	0.20519	T	0.43	.	16.3291	0.83001	0.0:0.0:0.0:1.0	.	427;427;427;427	P17948-4;P17948-3;P17948-2;P17948	.;.;.;VGFR1_HUMAN	E	427	ENSP00000282397:K427E;ENSP00000437631:K427E;ENSP00000442630:K427E	ENSP00000282397:K427E	K	-	1	0	FLT1	27899453	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.294000	0.59043	2.257000	0.74773	0.528000	0.53228	AAA		FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1		
RB1	5925	hgsc.bcm.edu	37	13	48936996	48936996	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr13:48936996G>A	ENST00000267163.4	+	8	902	c.764G>A	c.(763-765)cGa>cAa	p.R255Q		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	255					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(6)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ACACCCAGGCGAGGTCAGAAC	0.343		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	21	Whole gene deletion(15)|Unknown(6)	bone(11)|breast(5)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	13											109.0	112.0	111.0					13																	48936996		2203	4300	6503	47834997	SO:0001583	missense	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.764G>A	13.37:g.48936996G>A	ENSP00000267163:p.Arg255Gln	Somatic		Capture	Illumina HiSeq	Phase_I	47834997	A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.429997	0.83776	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.92099	-2.97	6.03	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.94771	0.8312	M	0.65975	2.015	0.48087	D	0.999589	D	0.89917	1.0	D	0.69307	0.963	D	0.93882	0.7172	10	0.35671	T	0.21	.	14.1218	0.65192	0.0729:0.0:0.9271:0.0	.	255	P06400	RB_HUMAN	Q	234;255	ENSP00000267163:R255Q	ENSP00000267163:R255Q	R	+	2	0	RB1	47834997	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	6.281000	0.72632	1.541000	0.49316	0.655000	0.94253	CGA		RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
DACH1	1602	hgsc.bcm.edu	37	13	72063261	72063261	+	Silent	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr13:72063261T>C	ENST00000359684.2	-	8	1751	c.1752A>G	c.(1750-1752)acA>acG	p.T584T	DACH1_ENST00000313174.7_Silent_p.T384T|DACH1_ENST00000354591.4_Silent_p.T330T|DACH1_ENST00000305425.4_Silent_p.T532T			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	584					cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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 transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TTGCGGTTGGTGTAGAAAGCG	0.448																																																	0			13											205.0	204.0	204.0					13																	72063261		1902	4128	6030	70961262	SO:0001819	synonymous_variant	1602			AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1752A>G	13.37:g.72063261T>C		Somatic		Capture	Illumina HiSeq	Phase_I	70961262	D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Silent	SNP	ENST00000359684.2	37																																																																																					DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392	
KCTD12	115207	hgsc.bcm.edu	37	13	77459362	77459362	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr13:77459362G>T	ENST00000377474.2	-	1	1163	c.922C>A	c.(922-924)Cag>Aag	p.Q308K	KCTD12_ENST00000317765.2_Missense_Mutation_p.Q308K|AC000403.1_ENST00000579275.1_RNA	NM_138444.3	NP_612453.1	Q96CX2	KCD12_HUMAN	potassium channel tetramerization domain containing 12	308					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.0499)		TCCTCGCTCTGGTCGGTGCTG	0.637											OREG0022449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			13											69.0	56.0	60.0					13																	77459362		2203	4300	6503	76357363	SO:0001583	missense	115207			AF359381	CCDS9455.1	13q21	2013-06-20	2013-06-20	2003-11-26	ENSG00000178695	ENSG00000178695			14678	protein-coding gene	gene with protein product	"""predominantly fetal expressed T1 domain"""	610521	"""chromosome 13 open reading frame 2"", ""potassium channel tetramerisation domain containing 12"""	C13orf2		15357420	Standard	NM_138444		Approved	KIAA1778, PFET1	uc010aeu.1	Q96CX2	OTTHUMG00000017096	ENST00000377474.2:c.922C>A	13.37:g.77459362G>T	ENSP00000366694:p.Gln308Lys	Somatic	1175	Capture	Illumina HiSeq	Phase_I	76357363		Missense_Mutation	SNP	ENST00000377474.2	37	CCDS9455.1	.	.	.	.	.	.	.	.	.	.	G	9.842	1.191365	0.21954	.	.	ENSG00000178695	ENST00000377474;ENST00000317765	T;T	0.41400	1.0;1.0	4.84	4.84	0.62591	.	0.055104	0.85682	D	0.000000	T	0.36054	0.0953	L	0.50333	1.59	0.52099	D	0.999949	P	0.50156	0.932	B	0.36959	0.237	T	0.24404	-1.0161	10	0.23891	T	0.37	.	17.9207	0.88965	0.0:0.0:1.0:0.0	.	308	Q96CX2	KCD12_HUMAN	K	308	ENSP00000366694:Q308K;ENSP00000317141:Q308K	ENSP00000317141:Q308K	Q	-	1	0	KCTD12	76357363	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.323000	0.96364	2.399000	0.81585	0.462000	0.41574	CAG		KCTD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045309.2	NM_138444	
DCT	1638	hgsc.bcm.edu	37	13	95114392	95114392	+	Silent	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr13:95114392A>G	ENST00000377028.5	-	5	1328	c.915T>C	c.(913-915)ggT>ggC	p.G305G	DCT_ENST00000490854.1_5'UTR|DCT_ENST00000446125.1_Silent_p.G305G	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	305					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TTCTCAGCAAACCTTCATAGG	0.398																																																	0			13											130.0	111.0	117.0					13																	95114392		2203	4300	6503	93912393	SO:0001819	synonymous_variant	1638			D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.915T>C	13.37:g.95114392A>G		Somatic		Capture	Illumina HiSeq	Phase_I	93912393	Q09GT4	Silent	SNP	ENST00000377028.5	37	CCDS9470.1																																																																																				DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3		
DZIP1	22873	hgsc.bcm.edu	37	13	96277051	96277051	+	Silent	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr13:96277051A>G	ENST00000376829.2	-	8	1794	c.943T>C	c.(943-945)Tta>Cta	p.L315L	DZIP1_ENST00000361396.2_Silent_p.L315L|DZIP1_ENST00000347108.3_Silent_p.L315L|DZIP1_ENST00000361156.3_Silent_p.L315L	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	315					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TTCGAAGTTAATTCTTTAAAT	0.333																																																	0			13											102.0	95.0	97.0					13																	96277051		2196	4300	6496	95075052	SO:0001819	synonymous_variant	22873			AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.943T>C	13.37:g.96277051A>G		Somatic		Capture	Illumina HiSeq	Phase_I	95075052	Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Silent	SNP	ENST00000376829.2	37	CCDS9478.1																																																																																				DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934	
MBNL2	10150	hgsc.bcm.edu	37	13	98009771	98009771	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr13:98009771G>T	ENST00000376673.3	+	6	1621	c.840G>T	c.(838-840)aaG>aaT	p.K280N	MBNL2_ENST00000343600.4_Missense_Mutation_p.K280N|MBNL2_ENST00000397601.1_Missense_Mutation_p.K280N|MBNL2_ENST00000445661.2_Missense_Mutation_p.K125N|MBNL2_ENST00000345429.6_Missense_Mutation_p.K280N			Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	280					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			CTTTACCAAAGAGACAAGCAC	0.473																																																	0			13											136.0	121.0	126.0					13																	98009771		2203	4300	6503	96807772	SO:0001583	missense	10150			AF061261	CCDS9483.1, CCDS9484.1	13q31.1	2013-01-18	2012-02-23		ENSG00000139793	ENSG00000139793		"""Zinc fingers, CCCH-type domain containing"""	16746	protein-coding gene	gene with protein product		607327	"""muscleblind-like 2 (Drosophila)"""			11929853	Standard	NM_207304		Approved	MBLL, MBLL39	uc001vmz.4	Q5VZF2	OTTHUMG00000017239	ENST00000376673.3:c.840G>T	13.37:g.98009771G>T	ENSP00000365861:p.Lys280Asn	Somatic		Capture	Illumina HiSeq	Phase_I	96807772	Q3SXY5|Q58F19|Q8NEV3|Q8TD82	Missense_Mutation	SNP	ENST00000376673.3	37		.	.	.	.	.	.	.	.	.	.	G	18.97	3.735273	0.69189	.	.	ENSG00000139793	ENST00000397601;ENST00000343600;ENST00000376679;ENST00000345429;ENST00000376673;ENST00000445661;ENST00000449284	T;T;T;T;T	0.55760	0.62;0.62;0.5;1.06;0.61	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.76765	0.4033	M	0.82823	2.61	0.52501	D	0.99995	P;D;D;D;D	0.89917	0.927;1.0;1.0;1.0;0.999	P;D;D;D;D	0.91635	0.628;0.999;0.999;0.999;0.999	T	0.77313	-0.2634	10	0.54805	T	0.06	.	20.1858	0.98214	0.0:0.0:1.0:0.0	.	125;280;280;280;280	B4E3F7;Q5VZF2;Q5VZF2-3;A2A3S3;Q5VZF2-2	.;MBNL2_HUMAN;.;.;.	N	280;280;31;280;280;125;30	ENSP00000380726:K280N;ENSP00000344214:K280N;ENSP00000267287:K280N;ENSP00000365861:K280N;ENSP00000406842:K125N	ENSP00000344214:K280N	K	+	3	2	MBNL2	96807772	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.954000	0.87848	2.777000	0.95525	0.591000	0.81541	AAG		MBNL2-202	KNOWN	basic	protein_coding	protein_coding		NM_144778	
CDC16	8881	hgsc.bcm.edu	37	13	115008808	115008808	+	Silent	SNP	G	G	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr13:115008808G>A	ENST00000356221.3	+	7	726	c.618G>A	c.(616-618)gaG>gaA	p.E206E	CDC16_ENST00000375308.1_Silent_p.E112E|CDC16_ENST00000252457.5_Silent_p.E205E|MIR548AR_ENST00000582191.1_RNA|CDC16_ENST00000360383.3_Silent_p.E206E|CDC16_ENST00000375312.3_Silent_p.E112E|CDC16_ENST00000375310.1_Silent_p.E112E|CDC16_ENST00000252458.6_Silent_p.E112E			Q13042	CDC16_HUMAN	cell division cycle 16	206					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|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 mitosis (GO:0007088)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|spindle (GO:0005819)				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			TTCTATTTGAGAACAAATTGA	0.299																																																	0			13											63.0	68.0	66.0					13																	115008808		2203	4296	6499	114026910	SO:0001819	synonymous_variant	8881			U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1720	protein-coding gene	gene with protein product	"""anaphase-promoting complex, subunit 6"""	603461	"""CDC16 (cell division cycle 16, S. cerevisiae, homolog)"", ""CDC16 cell division cycle 16 homolog (S. cerevisiae)"", ""cell division cycle 16 homolog (S. cerevisiae)"""			7736578	Standard	NM_001078645		Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.618G>A	13.37:g.115008808G>A		Somatic		Capture	Illumina HiSeq	Phase_I	114026910	A2A365|Q5T8C8|Q96AE6|Q9Y564	Silent	SNP	ENST00000356221.3	37	CCDS9542.2																																																																																				CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276737.1	NM_003903	
UPF2	26019	hgsc.bcm.edu	37	10	12039754	12039754	+	Silent	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr10:12039754T>C	ENST00000356352.2	-	7	2234	c.1761A>G	c.(1759-1761)gcA>gcG	p.A587A	UPF2_ENST00000357604.5_Silent_p.A587A|UPF2_ENST00000397053.2_Silent_p.A587A			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	587	MIF4G 2.				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)			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)				AATCCATTGCTGCCTATTGGG	0.343																																																	0			10											155.0	143.0	147.0					10																	12039754		2203	4300	6503	12079760	SO:0001819	synonymous_variant	26019			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.1761A>G	10.37:g.12039754T>C		Somatic		Capture	Illumina HiSeq	Phase_I	12079760	A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Silent	SNP	ENST00000356352.2	37	CCDS7086.1																																																																																				UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1		
DCLRE1C	64421	hgsc.bcm.edu	37	10	14976408	14976408	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr10:14976408T>C	ENST00000378278.2	-	8	686	c.649A>G	c.(649-651)Acc>Gcc	p.T217A	DCLRE1C_ENST00000357717.2_Missense_Mutation_p.T102A|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.T102A|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.T102A|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.T217A|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.T97A|DCLRE1C_ENST00000453695.2_Missense_Mutation_p.T97A|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.T97A|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.T97A|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.T97A			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	217					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						CTAAGGTTGGTGAACAGATAT	0.423								Non-homologous end-joining																																									0			10											118.0	137.0	131.0					10																	14976408		2203	4300	6503	15016414	SO:0001583	missense	64421			BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	605988	"""severe combined immunodeficiency, type a (Athabascan)"", ""DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"""	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.649A>G	10.37:g.14976408T>C	ENSP00000367527:p.Thr217Ala	Somatic		Capture	Illumina HiSeq	Phase_I	15016414	D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	ENST00000378278.2	37	CCDS31149.1	.	.	.	.	.	.	.	.	.	.	T	18.90	3.722578	0.68959	.	.	ENSG00000152457	ENST00000378289;ENST00000453695;ENST00000378246;ENST00000357717;ENST00000378249;ENST00000396817;ENST00000378255;ENST00000378254;ENST00000378278;ENST00000378258;ENST00000418843	T;T;T;T;T;T;T;T;T;T;T	0.79247	-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-1.25	5.36	5.36	0.76844	.	0.045033	0.85682	D	0.000000	T	0.81513	0.4838	L	0.44542	1.39	0.49582	D	0.999804	B;D;B	0.61697	0.012;0.99;0.136	B;P;B	0.59643	0.037;0.861;0.075	T	0.80788	-0.1226	10	0.37606	T	0.19	.	15.3355	0.74250	0.0:0.0:0.0:1.0	.	217;102;217	Q96SD1-4;Q96SD1-3;Q96SD1	.;.;DCR1C_HUMAN	A	217;97;102;102;102;97;97;97;217;97;71	ENSP00000367538:T217A;ENSP00000400529:T97A;ENSP00000367492:T102A;ENSP00000350349:T102A;ENSP00000367496:T102A;ENSP00000380030:T97A;ENSP00000367503:T97A;ENSP00000367502:T97A;ENSP00000367527:T217A;ENSP00000367506:T97A;ENSP00000391428:T71A	ENSP00000350349:T102A	T	-	1	0	DCLRE1C	15016414	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.168000	0.64978	2.030000	0.59900	0.528000	0.53228	ACC		DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046934.1	NM_022487	
FAM171A1	221061	hgsc.bcm.edu	37	10	15296824	15296824	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr10:15296824T>C	ENST00000378116.4	-	4	479	c.473A>G	c.(472-474)gAg>gGg	p.E158G		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	158						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				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						GCTGGTGTTCTCAGGCAACCT	0.562																																																	0			10											62.0	58.0	60.0					10																	15296824		2203	4300	6503	15336830	SO:0001583	missense	221061			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.473A>G	10.37:g.15296824T>C	ENSP00000367356:p.Glu158Gly	Somatic		Capture	Illumina HiSeq	Phase_I	15336830	D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	T	10.45	1.353190	0.24512	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.31510	1.49	5.11	3.95	0.45737	.	0.364462	0.29616	N	0.011647	T	0.17831	0.0428	N	0.22421	0.69	0.35449	D	0.795491	B	0.09022	0.002	B	0.14578	0.011	T	0.15636	-1.0430	10	0.21540	T	0.41	-25.5114	6.9177	0.24369	0.0:0.0755:0.152:0.7725	.	158	Q5VUB5	F1711_HUMAN	G	158;159	ENSP00000367356:E158G	ENSP00000367356:E158G	E	-	2	0	FAM171A1	15336830	1.000000	0.71417	0.985000	0.45067	0.931000	0.56810	2.554000	0.45845	0.874000	0.35823	0.528000	0.53228	GAG		FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709	
NSUN6	221078	hgsc.bcm.edu	37	10	18937511	18937511	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr10:18937511A>G	ENST00000377304.4	-	2	557	c.139T>C	c.(139-141)Tca>Cca	p.S47P	RP11-139J15.7_ENST00000606425.1_Missense_Mutation_p.S35P	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	47							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)	p.S47T(1)		endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						GGAGGATGTGACAGGTGCTTT	0.348																																																	1	Substitution - Missense(1)	ovary(1)	10											216.0	204.0	208.0					10																	18937511		2203	4300	6503	18977517	SO:0001583	missense	221078			BC035778	CCDS7130.1	10p13	2014-06-23	2009-11-23	2004-08-26	ENSG00000241058	ENSG00000241058		"""NOP2/Sun domain containing"""	23529	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 6"", ""NOL1/NOP2/Sun domain family, member 6"", ""ARL5B antisense RNA 1"""	NOPD1, ARL5B-AS1			Standard	XM_005252394		Approved	FLJ23743	uc010qcp.1	Q8TEA1	OTTHUMG00000017767	ENST00000377304.4:c.139T>C	10.37:g.18937511A>G	ENSP00000366519:p.Ser47Pro	Somatic		Capture	Illumina HiSeq	Phase_I	18977517	B0YJ54	Missense_Mutation	SNP	ENST00000377304.4	37	CCDS7130.1	.	.	.	.	.	.	.	.	.	.	A	17.03	3.283355	0.59867	.	.	ENSG00000241058	ENST00000377304	T	0.32272	1.46	4.95	4.95	0.65309	.	0.060303	0.64402	D	0.000002	T	0.42562	0.1208	M	0.78637	2.42	0.53005	D	0.999966	P	0.48998	0.918	P	0.48425	0.577	T	0.45934	-0.9227	10	0.59425	D	0.04	.	10.7457	0.46179	0.8407:0.1593:0.0:0.0	.	47	Q8TEA1	NSUN6_HUMAN	P	47	ENSP00000366519:S47P	ENSP00000366519:S47P	S	-	1	0	NSUN6	18977517	0.983000	0.35010	0.795000	0.32087	0.822000	0.46500	2.066000	0.41452	1.864000	0.54056	0.383000	0.25322	TCA		NSUN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047083.1	NM_182543	
GPR158	57512	hgsc.bcm.edu	37	10	25887718	25887718	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr10:25887718G>A	ENST00000376351.3	+	11	3522	c.3163G>A	c.(3163-3165)Gct>Act	p.A1055T	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1055					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GCCTAAGGCAGCTGAGGTTTG	0.428																																																	0			10											90.0	89.0	90.0					10																	25887718		2203	4300	6503	25927724	SO:0001583	missense	57512			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.3163G>A	10.37:g.25887718G>A	ENSP00000365529:p.Ala1055Thr	Somatic		Capture	Illumina HiSeq	Phase_I	25927724	Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	6.688	0.495571	0.12762	.	.	ENSG00000151025	ENST00000376351	T	0.29655	1.56	4.33	-0.301	0.12800	.	0.539313	0.16516	N	0.211010	T	0.17916	0.0430	L	0.47716	1.5	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22034	-1.0228	10	0.13853	T	0.58	.	1.5941	0.02660	0.1675:0.2462:0.3594:0.2269	.	1055	Q5T848	GP158_HUMAN	T	1055	ENSP00000365529:A1055T	ENSP00000365529:A1055T	A	+	1	0	GPR158	25927724	0.996000	0.38824	0.918000	0.36340	0.801000	0.45260	0.968000	0.29357	0.064000	0.16427	0.655000	0.94253	GCT		GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110	
MYO3A	53904	hgsc.bcm.edu	37	10	26442855	26442855	+	Silent	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr10:26442855A>G	ENST00000265944.5	+	24	2878	c.2712A>G	c.(2710-2712)gcA>gcG	p.A904A	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	904	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TCAACCTGGCAAAGGTAAGAA	0.308																																																	0			10											30.0	31.0	31.0					10																	26442855		2201	4291	6492	26482861	SO:0001819	synonymous_variant	53904			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2712A>G	10.37:g.26442855A>G		Somatic		Capture	Illumina HiSeq	Phase_I	26482861	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	CCDS7148.1																																																																																				MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433	
MYO3A	53904	hgsc.bcm.edu	37	10	26443698	26443698	+	Silent	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr10:26443698T>C	ENST00000265944.5	+	25	2905	c.2739T>C	c.(2737-2739)cgT>cgC	p.R913R	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	913	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AAGCCACACGTCATGCCAGAG	0.408																																																	0			10											120.0	118.0	119.0					10																	26443698		2203	4300	6503	26483704	SO:0001819	synonymous_variant	53904			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2739T>C	10.37:g.26443698T>C		Somatic		Capture	Illumina HiSeq	Phase_I	26483704	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	CCDS7148.1																																																																																				MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433	
ARHGAP22	58504	hgsc.bcm.edu	37	10	49654531	49654531	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr10:49654531T>C	ENST00000249601.4	-	10	2296	c.2000A>G	c.(1999-2001)gAg>gGg	p.E667G	ARHGAP22_ENST00000435790.2_Missense_Mutation_p.E673G|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.E577G|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.E558G|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.E683G|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.E508G|ARHGAP22_ENST00000477708.2_Missense_Mutation_p.E500G	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	667					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTTCCTCCTCTCCGCATCCTC	0.507																																																	0			10											150.0	142.0	144.0					10																	49654531		2203	4300	6503	49324537	SO:0001583	missense	58504			AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.2000A>G	10.37:g.49654531T>C	ENSP00000249601:p.Glu667Gly	Somatic		Capture	Illumina HiSeq	Phase_I	49324537	A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Missense_Mutation	SNP	ENST00000249601.4	37	CCDS7227.1	.	.	.	.	.	.	.	.	.	.	T	18.29	3.590715	0.66219	.	.	ENSG00000128805	ENST00000249601;ENST00000374172;ENST00000374170;ENST00000477708;ENST00000417247;ENST00000435790;ENST00000417912	T;T;T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04;0.04;0.04	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.79787	0.4506	M	0.85859	2.78	0.58432	D	0.999995	D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.85130	0.994;0.994;0.994;0.994;0.997;0.997	T	0.83134	-0.0112	10	0.87932	D	0	.	12.3683	0.55240	0.0:0.0:0.0:1.0	.	673;667;683;667;577;500	B4DED8;A6NDI7;Q7Z5H3-2;Q7Z5H3;Q7Z5H3-3;D6R9V6	.;.;.;RHG22_HUMAN;.;.	G	667;558;508;500;577;673;683	ENSP00000249601:E667G;ENSP00000363287:E558G;ENSP00000363285:E508G;ENSP00000422868:E500G;ENSP00000410054:E577G;ENSP00000416701:E673G;ENSP00000412461:E683G	ENSP00000249601:E667G	E	-	2	0	ARHGAP22	49324537	1.000000	0.71417	0.863000	0.33907	0.427000	0.31564	7.849000	0.86908	1.523000	0.49018	0.402000	0.26972	GAG		ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226	
ERCC6	2074	hgsc.bcm.edu	37	10	50678894	50678894	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr10:50678894T>C	ENST00000355832.5	-	18	3190	c.3112A>G	c.(3112-3114)Aga>Gga	p.R1038G	ERCC6_ENST00000542458.1_Missense_Mutation_p.R408G|RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000465653.1_5'Flank	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1038			R -> T (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		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)			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						TGAATCCTTCTTTTTAGATGG	0.388								Direct reversal of damage;Nucleotide excision repair (NER)																																									0			10											126.0	127.0	127.0					10																	50678894		2203	4300	6503	50348900	SO:0001583	missense	2074			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.3112A>G	10.37:g.50678894T>C	ENSP00000348089:p.Arg1038Gly	Somatic		Capture	Illumina HiSeq	Phase_I	50348900	D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	T	9.409	1.080124	0.20309	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;T	0.83419	-1.72;-1.46	5.95	4.8	0.61643	.	.	.	.	.	T	0.79695	0.4490	M	0.64404	1.975	0.23809	N	0.996785	B;B	0.13145	0.002;0.007	B;B	0.08055	0.001;0.003	T	0.65146	-0.6239	9	0.25106	T	0.35	-18.2246	11.3011	0.49306	0.0:0.0:0.3622:0.6378	.	1038;415	Q03468;Q59FF6	ERCC6_HUMAN;.	G	1038;415;408	ENSP00000348089:R1038G;ENSP00000445134:R408G	ENSP00000348089:R1038G	R	-	1	2	ERCC6	50348900	0.994000	0.37717	0.351000	0.25721	0.072000	0.16883	1.898000	0.39809	1.039000	0.40074	0.533000	0.62120	AGA		ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124	
ANK3	288	hgsc.bcm.edu	37	10	61967870	61967870	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr10:61967870A>G	ENST00000280772.2	-	10	1309	c.1118T>C	c.(1117-1119)gTg>gCg	p.V373A	ANK3_ENST00000503366.1_Missense_Mutation_p.V356A|ANK3_ENST00000373827.2_Missense_Mutation_p.V367A	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	373					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTGGGCAGCCACGTGTAGGGC	0.522																																																	0			10											171.0	140.0	150.0					10																	61967870		2203	4300	6503	61637876	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.1118T>C	10.37:g.61967870A>G	ENSP00000280772:p.Val373Ala	Somatic		Capture	Illumina HiSeq	Phase_I	61637876	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.459153	0.84317	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000395293;ENST00000395304	T;T;T	0.64438	-0.1;-0.1;-0.1	4.78	4.78	0.61160	Ankyrin repeat-containing domain (4);	0.000000	0.38058	N	0.001836	T	0.68183	0.2973	L	0.28054	0.825	0.80722	D	1	P;D;P;D	0.76494	0.873;0.989;0.844;0.999	B;D;P;D	0.80764	0.1;0.946;0.679;0.994	T	0.72877	-0.4159	10	0.87932	D	0	.	14.4831	0.67597	1.0:0.0:0.0:0.0	.	356;34;367;373	E9PE32;E7EMJ1;Q5CZH9;Q12955	.;.;.;ANK3_HUMAN	A	373;367;356;335;34;34	ENSP00000280772:V373A;ENSP00000362933:V367A;ENSP00000425236:V356A	ENSP00000280772:V373A	V	-	2	0	ANK3	61637876	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.088000	0.94132	2.014000	0.59158	0.460000	0.39030	GTG		ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987	
PTEN	5728	hgsc.bcm.edu	37	10	89624277	89624277	+	Silent	SNP	A	A	G	rs587781912		TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr10:89624277A>G	ENST00000371953.3	+	1	1408	c.51A>G	c.(49-51)caA>caG	p.Q17Q	KLLN_ENST00000445946.3_5'Flank	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	17	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(13)|p.Q17del(2)|p.R15fs*23(1)|p.R14fs*26(1)|p.Y16fs*21(1)|p.N12fs*6(1)|p.R14_D22del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGAGATATCAAGAGGATGGAT	0.473		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	57	Whole gene deletion(37)|Unknown(13)|Deletion - Frameshift(4)|Deletion - In frame(3)	prostate(14)|central_nervous_system(13)|skin(7)|lung(6)|endometrium(3)|ovary(3)|haematopoietic_and_lymphoid_tissue(2)|bone(2)|breast(2)|biliary_tract(1)|stomach(1)|soft_tissue(1)|urinary_tract(1)|kidney(1)	10											181.0	173.0	176.0					10																	89624277		2203	4300	6503	89614257	SO:0001819	synonymous_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.51A>G	10.37:g.89624277A>G		Somatic		Capture	Illumina HiSeq	Phase_I	89614257	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Silent	SNP	ENST00000371953.3	37	CCDS31238.1																																																																																				PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
PTEN	5728	hgsc.bcm.edu	37	10	89653842	89653842	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr10:89653842G>T	ENST00000371953.3	+	2	1497	c.140G>T	c.(139-141)aGg>aTg	p.R47M		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	47	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> G (in CWS1). {ECO:0000269|PubMed:11494117}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(8)|p.Y27fs*1(2)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGCGTATACAGGAACAATATT	0.289		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	47	Whole gene deletion(37)|Unknown(8)|Deletion - Frameshift(2)	prostate(14)|central_nervous_system(8)|skin(8)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|ovary(3)|breast(2)|soft_tissue(1)|urinary_tract(1)|NS(1)|kidney(1)	10											112.0	112.0	112.0					10																	89653842		2203	4296	6499	89643822	SO:0001583	missense	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.140G>T	10.37:g.89653842G>T	ENSP00000361021:p.Arg47Met	Somatic		Capture	Illumina HiSeq	Phase_I	89643822	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.910633	0.92107	.	.	ENSG00000171862	ENST00000371953	D	0.98822	-5.16	5.08	5.08	0.68730	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.99510	0.9825	H	0.97829	4.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97960	1.0337	9	.	.	.	-7.4116	17.2284	0.86978	0.0:0.0:1.0:0.0	.	47	P60484	PTEN_HUMAN	M	47	ENSP00000361021:R47M	.	R	+	2	0	PTEN	89643822	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.977000	0.93446	2.364000	0.80123	0.655000	0.94253	AGG		PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
PDCD11	22984	hgsc.bcm.edu	37	10	105178280	105178280	+	Silent	SNP	C	C	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr10:105178280C>T	ENST00000369797.3	+	15	2089	c.1995C>T	c.(1993-1995)ccC>ccT	p.P665P		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	665	S1 motif 7. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CTTTCCTCCCCACATCTCATC	0.547																																																	0			10											185.0	137.0	153.0					10																	105178280		2203	4300	6503	105168270	SO:0001819	synonymous_variant	22984			D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.1995C>T	10.37:g.105178280C>T		Somatic		Capture	Illumina HiSeq	Phase_I	105168270	Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Silent	SNP	ENST00000369797.3	37	CCDS31276.1																																																																																				PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1		
FGFR2	2263	hgsc.bcm.edu	37	10	123279563	123279563	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr10:123279563C>T	ENST00000358487.5	-	7	1141	c.869G>A	c.(868-870)tGg>tAg	p.W290*	FGFR2_ENST00000351936.6_Nonsense_Mutation_p.W290*|FGFR2_ENST00000369060.4_Nonsense_Mutation_p.W290*|FGFR2_ENST00000357555.5_Nonsense_Mutation_p.W201*|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000356226.4_Nonsense_Mutation_p.W175*|FGFR2_ENST00000369056.1_Nonsense_Mutation_p.W290*|FGFR2_ENST00000457416.2_Nonsense_Mutation_p.W290*|FGFR2_ENST00000369061.4_Intron|FGFR2_ENST00000346997.2_Nonsense_Mutation_p.W290*|FGFR2_ENST00000369059.1_Nonsense_Mutation_p.W175*|FGFR2_ENST00000360144.3_Nonsense_Mutation_p.W201*|FGFR2_ENST00000478859.1_Nonsense_Mutation_p.W62*	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	290	Ig-like C2-type 3.		W -> C (in PS; severe; also in a lung squamous cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:11781872, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:9150725}.|W -> G (in CS). {ECO:0000269|PubMed:8528214}.|W -> R (in CS).		angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	GTGCTTGATCCACTGGATGTG	0.547		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																															Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	0			10											130.0	119.0	123.0					10																	123279563		2203	4300	6503	123269553	SO:0001587	stop_gained	2263	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.869G>A	10.37:g.123279563C>T	ENSP00000351276:p.Trp290*	Somatic		Capture	Illumina HiSeq	Phase_I	123269553	B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Nonsense_Mutation	SNP	ENST00000358487.5	37	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	C	43	10.401376	0.99398	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0368	0.97565	0.0:1.0:0.0:0.0	.	.	.	.	X	201;290;290;175;290;175;290;290;290;201;290;290;201	.	ENSP00000337665:W201X	W	-	2	0	FGFR2	123269553	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.811000	0.86092	2.735000	0.93741	0.563000	0.77884	TGG		FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141	
PRDM9	56979	hgsc.bcm.edu	37	5	23527676	23527676	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr5:23527676A>G	ENST00000296682.3	+	11	2661	c.2479A>G	c.(2479-2481)Aca>Gca	p.T827A		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	827					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GAGGACACACACAGGGGAGAA	0.577										HNSCC(3;0.000094)																																							0			5											40.0	53.0	49.0					5																	23527676		2148	4271	6419	23563433	SO:0001583	missense	56979			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2479A>G	5.37:g.23527676A>G	ENSP00000296682:p.Thr827Ala	Somatic		Capture	Illumina HiSeq	Phase_I	23563433	B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	A	7.170	0.587362	0.13812	.	.	ENSG00000164256	ENST00000296682	T	0.26518	1.73	3.02	0.0225	0.14133	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23054	0.0557	L	0.59912	1.85	0.36169	D	0.848652	B	0.10296	0.003	B	0.17979	0.02	T	0.12167	-1.0558	9	0.66056	D	0.02	-0.0365	6.8079	0.23788	0.5591:0.0:0.0:0.4409	.	827	Q9NQV7	PRDM9_HUMAN	A	827	ENSP00000296682:T827A	ENSP00000296682:T827A	T	+	1	0	PRDM9	23563433	0.998000	0.40836	0.999000	0.59377	0.178000	0.23041	1.473000	0.35387	0.028000	0.15324	0.386000	0.25728	ACA		PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227	
TBCA	6902	hgsc.bcm.edu	37	5	76989142	76989142	+	Silent	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr5:76989142T>C	ENST00000380377.4	-	3	298	c.195A>G	c.(193-195)ccA>ccG	p.P65P	TBCA_ENST00000522370.1_Silent_p.P41P|TBCA_ENST00000520039.1_3'UTR|TBCA_ENST00000517881.1_5'UTR|TBCA_ENST00000520361.1_Intron|TBCA_ENST00000518338.2_Silent_p.P88P|TBCA_ENST00000306388.6_Silent_p.P65P|TBCA_ENST00000517679.1_Silent_p.P76P	NM_004607.2	NP_004598.1	O75347	TBCA_HUMAN	tubulin folding cofactor A	65					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tubulin complex assembly (GO:0007021)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	chaperone binding (GO:0051087)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_lung(232;0.000511)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.02e-49)|Epithelial(54;1.05e-44)|all cancers(79;4.08e-40)		GCTGGCAATCTGGGATCATCA	0.403																																																	0			5											74.0	71.0	72.0					5																	76989142		2203	4300	6503	77024898	SO:0001819	synonymous_variant	6902			AF038952	CCDS4040.1, CCDS75263.1	5q14.1	2008-02-05	2006-11-21		ENSG00000171530	ENSG00000171530			11579	protein-coding gene	gene with protein product		610058	"""tubulin-specific chaperone a"""			9653160, 8706133	Standard	XM_005248586		Approved		uc003kfh.1	O75347	OTTHUMG00000102173	ENST00000380377.4:c.195A>G	5.37:g.76989142T>C		Somatic		Capture	Illumina HiSeq	Phase_I	77024898	B4DT30	Silent	SNP	ENST00000380377.4	37	CCDS4040.1																																																																																				TBCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220021.3	NM_004607	
GPR98	84059	hgsc.bcm.edu	37	5	89989843	89989843	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr5:89989843A>G	ENST00000405460.2	+	33	7366	c.7270A>G	c.(7270-7272)Aga>Gga	p.R2424G		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2424					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCCACTTTGGAGAACTTGGAT	0.483																																																	0			5											80.0	78.0	78.0					5																	89989843		1911	4115	6026	90025599	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.7270A>G	5.37:g.89989843A>G	ENSP00000384582:p.Arg2424Gly	Somatic		Capture	Illumina HiSeq	Phase_I	90025599	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	5.408	0.260433	0.10239	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.27557	1.66	5.92	5.92	0.95590	.	0.251771	0.44285	D	0.000467	T	0.32496	0.0831	L	0.60455	1.87	0.58432	D	0.999999	B;B	0.23490	0.086;0.041	B;B	0.24394	0.053;0.022	T	0.11060	-1.0603	10	0.66056	D	0.02	.	12.2322	0.54495	0.8582:0.1418:0.0:0.0	.	2424;2424	E7ETI5;Q8WXG9	.;GPR98_HUMAN	G	2424	ENSP00000384582:R2424G	ENSP00000296619:R2424G	R	+	1	2	GPR98	90025599	1.000000	0.71417	0.992000	0.48379	0.015000	0.08874	3.727000	0.54984	2.255000	0.74692	0.533000	0.62120	AGA		GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
APC	324	hgsc.bcm.edu	37	5	112173801	112173801	+	Nonsense_Mutation	SNP	C	C	A	rs79512956		TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr5:112173801C>A	ENST00000457016.1	+	16	2890	c.2510C>A	c.(2509-2511)tCa>tAa	p.S837*	APC_ENST00000508376.2_Nonsense_Mutation_p.S837*|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.S837*			P25054	APC_HUMAN	adenomatous polyposis coli	837	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TCCTCTTCATCAAGAGGAAGC	0.398		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	1	Unknown(1)	skin(1)	5	GRCh37	CD011083|CD084036|CM014886	APC	D|M	rs79512956						57.0	59.0	59.0					5																	112173801		2202	4300	6502	112201700	SO:0001587	stop_gained	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.2510C>A	5.37:g.112173801C>A	ENSP00000413133:p.Ser837*	Somatic		Capture	Illumina HiSeq	Phase_I	112201700	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	36	5.871363	0.97049	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.41	5.41	0.78517	.	0.376434	0.25464	N	0.030484	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.7031	19.2326	0.93846	0.0:1.0:0.0:0.0	.	.	.	.	X	837;819;837;837;837	.	ENSP00000257430:S837X	S	+	2	0	APC	112201700	0.594000	0.26849	1.000000	0.80357	0.989000	0.77384	2.664000	0.46783	2.538000	0.85594	0.650000	0.86243	TCA		APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112175213	112175213	+	Nonsense_Mutation	SNP	A	A	T	rs121913224		TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr5:112175213A>T	ENST00000457016.1	+	16	4302	c.3922A>T	c.(3922-3924)Aaa>Taa	p.K1308*	APC_ENST00000508376.2_Nonsense_Mutation_p.K1308*|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.K1308*			P25054	APC_HUMAN	adenomatous polyposis coli	1308	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.E1309fs*4(37)|p.I1307fs*6(12)|p.K1308*(6)|p.?(1)|p.K1192fs*3(1)|p.K1308E(1)|p.K1308fs*4(1)|p.K1308fs*6(1)|p.I1307fs*13(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGCAGAAATAAAAGAAAAGAT	0.428		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	61	Deletion - Frameshift(53)|Substitution - Nonsense(6)|Unknown(1)|Substitution - Missense(1)	large_intestine(57)|stomach(2)|soft_tissue(1)|skin(1)	5											53.0	55.0	54.0					5																	112175213		2202	4300	6502	112203112	SO:0001587	stop_gained	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3922A>T	5.37:g.112175213A>T	ENSP00000413133:p.Lys1308*	Somatic		Capture	Illumina HiSeq	Phase_I	112203112	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	37	6.614051	0.97705	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	5.73	5.73	0.89815	.	0.144296	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-26.286	15.9856	0.80151	1.0:0.0:0.0:0.0	.	.	.	.	X	1308	.	.	K	+	1	0	APC	112203112	1.000000	0.71417	0.992000	0.48379	0.721000	0.41392	4.589000	0.61006	2.308000	0.77769	0.533000	0.62120	AAA		APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112175308	112175308	+	Silent	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr5:112175308T>C	ENST00000457016.1	+	16	4397	c.4017T>C	c.(4015-4017)ggT>ggC	p.G1339G	APC_ENST00000508376.2_Silent_p.G1339G|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Silent_p.G1339G			P25054	APC_HUMAN	adenomatous polyposis coli	1339	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.S1335fs*70(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GACTGCAGGGTTCTAGTTTAT	0.458		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	3	Deletion - Frameshift(2)|Unknown(1)	large_intestine(1)|soft_tissue(1)|skin(1)	5											56.0	60.0	59.0					5																	112175308		2202	4300	6502	112203207	SO:0001819	synonymous_variant	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4017T>C	5.37:g.112175308T>C		Somatic		Capture	Illumina HiSeq	Phase_I	112203207	D3DT03|Q15162|Q15163|Q93042	Silent	SNP	ENST00000457016.1	37	CCDS4107.1																																																																																				APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112175480	112175480	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr5:112175480G>T	ENST00000457016.1	+	16	4569	c.4189G>T	c.(4189-4191)Gag>Tag	p.E1397*	APC_ENST00000508376.2_Nonsense_Mutation_p.E1397*|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.E1397*			P25054	APC_HUMAN	adenomatous polyposis coli	1397	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.R1399fs*9(18)|p.E1397*(8)|p.Y1376fs*41(1)|p.?(1)|p.K1192fs*3(1)|p.E1397fs*19(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGATAGTTTTGAGAGTCGTTC	0.473		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	30	Deletion - Frameshift(20)|Substitution - Nonsense(8)|Unknown(1)|Insertion - Frameshift(1)	large_intestine(28)|soft_tissue(1)|skin(1)	5	GRCh37	CM992136	APC	M							104.0	98.0	100.0					5																	112175480		2202	4300	6502	112203379	SO:0001587	stop_gained	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4189G>T	5.37:g.112175480G>T	ENSP00000413133:p.Glu1397*	Somatic		Capture	Illumina HiSeq	Phase_I	112203379	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	41	8.742411	0.98937	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	6.17	6.17	0.99709	.	0.111909	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-17.9405	20.4898	0.99202	0.0:0.0:1.0:0.0	.	.	.	.	X	1397	.	.	E	+	1	0	APC	112203379	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.281000	0.78621	2.941000	0.99782	0.655000	0.94253	GAG		APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
TSSK1B	83942	hgsc.bcm.edu	37	5	112770459	112770459	+	Silent	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr5:112770459T>C	ENST00000390666.3	-	1	269	c.78A>G	c.(76-78)gtA>gtG	p.V26V	CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000383058.4_RNA|MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000510381.2_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	26	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		AAGCAGATTTTACTTTTGCAT	0.537																																																	0			5											47.0	52.0	51.0					5																	112770459		2171	4287	6458	112798358	SO:0001819	synonymous_variant	83942			AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122			14968	protein-coding gene	gene with protein product		610709	"""serine/threonine kinase 22D (spermiogenesis associated)"", ""testis-specific serine kinase 1"""	STK22D, TSSK1		15044604	Standard	NM_032028		Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.78A>G	5.37:g.112770459T>C		Somatic		Capture	Illumina HiSeq	Phase_I	112798358	B2R8D9	Silent	SNP	ENST00000390666.3	37	CCDS4112.1																																																																																				TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250774.2	NM_032028	
ANKHD1	54882	hgsc.bcm.edu	37	5	139892480	139892480	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr5:139892480T>C	ENST00000360839.2	+	23	4326	c.4172T>C	c.(4171-4173)aTg>aCg	p.M1391T	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.M1391T|ANKHD1_ENST00000297183.6_Missense_Mutation_p.M1391T	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1391						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAGAATGCATGAGATACATA	0.333																																																	0			5											123.0	128.0	126.0					5																	139892480		2202	4299	6501	139872664	SO:0001583	missense	54882			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.4172T>C	5.37:g.139892480T>C	ENSP00000354085:p.Met1391Thr	Somatic		Capture	Illumina HiSeq	Phase_I	139872664	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.03|14.03	2.413844|2.413844	0.42817|0.42817	.|.	.|.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996|ENSG00000131503	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000235510;ENST00000421134;ENST00000412116;ENST00000431508;ENST00000532219|ENST00000246149	T;T;T;T;T;T|.	0.65732|.	-0.14;-0.17;-0.06;-0.14;1.86;-0.17|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.56863|.	0.2014|.	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	B;B;B;B;D;P|.	0.55800|.	0.022;0.012;0.038;0.011;0.973;0.932|.	B;B;B;B;P;P|.	0.61201|.	0.094;0.008;0.245;0.035;0.885;0.838|.	T|.	0.53823|.	-0.8384|.	10|.	0.23302|.	T|.	0.38|.	.|.	15.4127|15.4127	0.74941|0.74941	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1391;602;1391;1410;1391;1391|.	E9PF56;E7ET58;Q8IWZ3-4;E9PDP5;Q8IWZ2;Q8IWZ3|.	.;.;.;.;.;ANKH1_HUMAN|.	T|R	1391;1424;1391;1391;925;602;1410;544;47;1391|617	ENSP00000354085:M1391T;ENSP00000297183:M1391T;ENSP00000394489:M1410T;ENSP00000405602:M544T;ENSP00000393204:M47T;ENSP00000432016:M1391T|.	ENSP00000432016:M1391T|.	M|X	+|+	2|1	0|0	ANKHD1-EIF4EBP3;ANKHD1|ANKHD1	139872664|139872664	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	7.997000|7.997000	0.88414|0.88414	2.106000|2.106000	0.64143|0.64143	0.456000|0.456000	0.33151|0.33151	ATG|TGA		ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747	
WDR55	54853	hgsc.bcm.edu	37	5	140047905	140047905	+	Missense_Mutation	SNP	C	C	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr5:140047905C>G	ENST00000358337.5	+	2	515	c.278C>G	c.(277-279)tCt>tGt	p.S93C		NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	93					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGCCTTCTCTGAAGATGGG	0.567																																																	0			5											117.0	105.0	109.0					5																	140047905		2203	4300	6503	140028089	SO:0001583	missense	54853			AK000202	CCDS4235.1	5q31.3	2013-01-09			ENSG00000120314	ENSG00000120314		"""WD repeat domain containing"""	25971	protein-coding gene	gene with protein product						12477932	Standard	NM_017706		Approved	FLJ20195, FLJ21702	uc003lgr.4	Q9H6Y2	OTTHUMG00000129506	ENST00000358337.5:c.278C>G	5.37:g.140047905C>G	ENSP00000351100:p.Ser93Cys	Somatic		Capture	Illumina HiSeq	Phase_I	140028089	Q9NXK4	Missense_Mutation	SNP	ENST00000358337.5	37	CCDS4235.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927349	0.73327	.	.	ENSG00000120314	ENST00000358337	T	0.66280	-0.2	5.1	5.1	0.69264	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.81370	0.4808	M	0.90542	3.125	0.80722	D	1	D	0.64830	0.994	P	0.60682	0.878	D	0.85394	0.1127	10	0.72032	D	0.01	-8.5453	17.4665	0.87634	0.0:1.0:0.0:0.0	.	93	Q9H6Y2	WDR55_HUMAN	C	93	ENSP00000351100:S93C	ENSP00000351100:S93C	S	+	2	0	WDR55	140028089	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.453000	0.80700	2.644000	0.89710	0.563000	0.77884	TCT		WDR55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251680.3	NM_017706	
UBLCP1	134510	hgsc.bcm.edu	37	5	158696934	158696934	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr5:158696934A>G	ENST00000296786.6	+	3	499	c.173A>G	c.(172-174)gAt>gGt	p.D58G		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	58	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)			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)			GCAGAAAATGATGTTAAGCTT	0.353																																																	0			5											93.0	88.0	90.0					5																	158696934		2203	4300	6503	158629512	SO:0001583	missense	134510			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.173A>G	5.37:g.158696934A>G	ENSP00000296786:p.Asp58Gly	Somatic		Capture	Illumina HiSeq	Phase_I	158629512	D3DQJ7|Q96DK5	Missense_Mutation	SNP	ENST00000296786.6	37	CCDS4345.1	.	.	.	.	.	.	.	.	.	.	A	12.74	2.028952	0.35797	.	.	ENSG00000164332	ENST00000296786	T	0.74209	-0.82	6.06	6.06	0.98353	Ubiquitin supergroup (1);Ubiquitin (2);	0.137789	0.64402	D	0.000003	T	0.69504	0.3118	L	0.42008	1.315	0.49687	D	0.999813	B	0.09022	0.002	B	0.10450	0.005	T	0.64067	-0.6494	10	0.44086	T	0.13	-11.52	16.6245	0.84952	1.0:0.0:0.0:0.0	.	58	Q8WVY7	UBCP1_HUMAN	G	58	ENSP00000296786:D58G	ENSP00000296786:D58G	D	+	2	0	UBLCP1	158629512	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.779000	0.68948	2.323000	0.78572	0.528000	0.53228	GAT		UBLCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252650.2	NM_145049	
GABRG2	2566	hgsc.bcm.edu	37	5	161580118	161580118	+	Missense_Mutation	SNP	G	G	A	rs528036202	byFrequency	TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr5:161580118G>A	ENST00000361925.4	+	9	1368	c.1148G>A	c.(1147-1149)cGc>cAc	p.R383H	GABRG2_ENST00000414552.2_Missense_Mutation_p.R431H|GABRG2_ENST00000356592.3_Missense_Mutation_p.R391H|GABRG2_ENST00000393933.4_Missense_Mutation_p.R288H			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	383					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATTGATATCCGCCCAAGATCA	0.488													G|||	2	0.000399361	0.0	0.0	5008	,	,		19874	0.0		0.0	False		,,,				2504	0.002																0			5											118.0	107.0	111.0					5																	161580118		2203	4300	6503	161512696	SO:0001583	missense	2566				CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.1148G>A	5.37:g.161580118G>A	ENSP00000354651:p.Arg383His	Somatic		Capture	Illumina HiSeq	Phase_I	161512696	F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321214	0.41096	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933	D;D;D;D	0.85702	-2.0;-2.0;-2.02;-2.02	5.95	5.08	0.68730	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.176085	0.51477	D	0.000096	T	0.76751	0.4031	N	0.24115	0.695	0.80722	D	1	B;B;B	0.23442	0.085;0.014;0.043	B;B;B	0.20577	0.02;0.022;0.03	T	0.71636	-0.4533	10	0.32370	T	0.25	.	15.3601	0.74464	0.0668:0.0:0.9332:0.0	.	431;383;391	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	H	391;431;383;288	ENSP00000349000:R391H;ENSP00000410732:R431H;ENSP00000354651:R383H;ENSP00000377510:R288H	ENSP00000349000:R391H	R	+	2	0	GABRG2	161512696	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.671000	0.74472	1.526000	0.49068	0.655000	0.94253	CGC		GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1		
GRM6	2916	hgsc.bcm.edu	37	5	178413622	178413622	+	Missense_Mutation	SNP	C	C	T	rs554079886		TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr5:178413622C>T	ENST00000517717.1	-	9	1671	c.1633G>A	c.(1633-1635)Ggg>Agg	p.G545R	GRM6_ENST00000231188.5_Missense_Mutation_p.G545R|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	545					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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)	all cancers(165;0.245)		AAGCGGTACCCGTCACAGGCC	0.687																																																	0			5											44.0	39.0	41.0					5																	178413622		2203	4298	6501	178346228	SO:0001583	missense	2916			U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1633G>A	5.37:g.178413622C>T	ENSP00000430767:p.Gly545Arg	Somatic		Capture	Illumina HiSeq	Phase_I	178346228		Missense_Mutation	SNP	ENST00000517717.1	37	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550129	0.86127	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.89343	-2.5;-2.5	4.97	4.97	0.65823	GPCR, family 3, conserved site (1);GPCR, family 3, nine cysteines domain (1);	.	.	.	.	D	0.93588	0.7953	M	0.75615	2.305	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;P	0.97110	1.0;0.892	D	0.92087	0.5677	9	0.27785	T	0.31	.	16.0945	0.81110	0.0:1.0:0.0:0.0	.	701;545	E7EX65;O15303	.;GRM6_HUMAN	R	701;545;545	ENSP00000231188:G545R;ENSP00000430767:G545R	ENSP00000231188:G545R	G	-	1	0	GRM6	178346228	1.000000	0.71417	0.829000	0.32907	0.973000	0.67179	7.658000	0.83755	2.461000	0.83175	0.462000	0.41574	GGG		GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2		
LCE1F	353137	hgsc.bcm.edu	37	1	152749037	152749042	+	In_Frame_Del	DEL	GGTGGT	GGTGGT	-	rs202038292|rs200171226|rs149277953	byFrequency	TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	GGTGGT	GGTGGT					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr1:152749037_152749042delGGTGGT	ENST00000334371.2	+	1	190_195	c.190_195delGGTGGT	c.(190-195)ggtggtdel	p.GG64del		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	64	Poly-Gly.				keratinization (GO:0031424)			p.G64_G65delGG(1)		kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCTCTGGGGGTGGTGGCTGCTGCA	0.675														356	0.0710863	0.0136	0.0663	5008	,	,		14489	0.0923		0.1034	False		,,,				2504	0.0971																1	Deletion - In frame(1)	stomach(1)	1								106,4154		4,98,2028						-1.6	0.0		dbSNP_134	9	754,7496		7,740,3378	no	coding	LCE1F	NM_178354.2		11,838,5406	A1A1,A1R,RR		9.1394,2.4883,6.8745				860,11650				151015666	SO:0001651	inframe_deletion	353137				CCDS1023.1	1q21.3	2008-02-05			ENSG00000240386	ENSG00000240386		"""Late cornified envelopes"""	29467	protein-coding gene	gene with protein product		612608				11698679	Standard	NM_178354		Approved	LEP6	uc010pdv.2	Q5T754	OTTHUMG00000012403	ENST00000334371.2:c.190_195delGGTGGT	1.37:g.152749037_152749042delGGTGGT	ENSP00000334187:p.Gly64_Gly65del	Somatic		Capture	Illumina HiSeq	Phase_I	151015661		In_Frame_Del	DEL	ENST00000334371.2	37	CCDS1023.1																																																																																				LCE1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034523.2	NM_178354	
FMN2	56776	hgsc.bcm.edu	37	1	240370914	240370946	+	In_Frame_Del	DEL	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	-	rs199628038|rs193049501|rs562038978|rs141094573|rs4997328|rs4997329|rs188083977|rs145628188|rs71170718|rs371697625	byFrequency	TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr1:240370914_240370946delGCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	ENST00000319653.9	+	5	3032_3064	c.2802_2834delGCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	c.(2800-2835)ctgccccctctacccggagcgggaatacctcctccg>ctg	p.PPLPGAGIPPP935del		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	935	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.G1082R(1)|p.P1081P(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACTCCCTCTGCCCCCTCTACCCGGAGCGGGAATACCTCCTCCGCCCCCTCTA	0.678																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	1								1432,2834		223,986,924						0.9	0.0		dbSNP_114	42	2115,6135		277,1561,2287	no	coding	FMN2	NM_020066.4		500,2547,3211	A1A1,A1R,RR		25.6364,33.5677,28.3397				3547,8969				238437569	SO:0001651	inframe_deletion	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2802_2834delGCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	1.37:g.240370914_240370946delGCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	ENSP00000318884:p.Pro935_Pro945del	Somatic		Capture	Illumina HiSeq	Phase_I	238437537	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	In_Frame_Del	DEL	ENST00000319653.9	37	CCDS31069.2																																																																																				FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352	
RBM43	375287	hgsc.bcm.edu	37	2	152108088	152108088	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr2:152108088delT	ENST00000331426.5	-	4	557	c.406delA	c.(406-408)atcfs	p.I136fs		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	136							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.I136fs*4(1)		endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		AAACTCGGGATTTTTTTTTTC	0.388																																																	1	Deletion - Frameshift(1)	ovary(1)	2								67,49,4116		3,1,60,6,36,2010	81.0	90.0	87.0			4.3	0.8	2	dbSNP_134	89	115,71,8038		0,1,114,8,54,3935	no	codingComplex	RBM43	NM_198557.2		3,2,174,14,90,5945	A1A1,A1A2,A1R,A2A2,A2R,RR		2.2617,2.741,2.4245			152108088	182,120,12154	2198	4292	6490	151816334	SO:0001589	frameshift_variant	375287			AK127552	CCDS2191.1	2q23.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000184898	ENSG00000184898		"""RNA binding motif (RRM) containing"""	24790	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 38"""	C2orf38			Standard	NM_198557		Approved	FLJ45645	uc002txh.3	Q6ZSC3	OTTHUMG00000131866	ENST00000331426.5:c.406delA	2.37:g.152108088delT	ENSP00000331211:p.Ile136fs	Somatic		Capture	Illumina HiSeq	Phase_I	151816334	B2RMT5	Frame_Shift_Del	DEL	ENST00000331426.5	37	CCDS2191.1																																																																																				RBM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254816.2	NM_198557	
DLX2	1746	hgsc.bcm.edu	37	2	172967128	172967129	+	In_Frame_Ins	INS	-	-	GCT	rs201510837|rs376692475	byFrequency	TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr2:172967128_172967129insGCT	ENST00000234198.4	-	1	499_500	c.138_139insAGC	c.(136-141)agcctc>agcAGCctc	p.46_47insS	DLX2_ENST00000466293.2_In_Frame_Ins_p.46_47insS|AC104801.1_ENST00000448117.1_lincRNA	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	46	Poly-Ser.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|cartilage development (GO:0051216)|cerebral cortex GABAergic interneuron fate commitment (GO:0021893)|embryonic cranial skeleton morphogenesis (GO:0048701)|hippocampus development (GO:0021766)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|subpallium development (GO:0021544)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded RNA binding (GO:0003727)			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GGCTTGTGGAGgctgctgctgc	0.738														113	0.0225639	0.0008	0.0865	5008	,	,		12199	0.0387		0.0109	False		,,,				2504	0.002				GBM(188;775 2993 11256 23072)												0			2																																								172675375	SO:0001652	inframe_insertion	9856			U51003	CCDS2248.1	2q31.1	2011-06-20	2005-12-22		ENSG00000115844	ENSG00000115844		"""Homeoboxes / ANTP class : NKL subclass"""	2915	protein-coding gene	gene with protein product		126255	"""distal-less homeo box 2"""			1354641	Standard	NM_004405		Approved	TES-1	uc002uhn.3	Q07687	OTTHUMG00000132276	ENST00000234198.4:c.136_138dupAGC	2.37:g.172967135_172967137dupGCT	ENSP00000234198:p.Ser46_Ser46dup	Somatic		Capture	Illumina HiSeq	Phase_I	172675374	B4DMK4|B7ZA14	In_Frame_Ins	INS	ENST00000234198.4	37	CCDS2248.1																																																																																				DLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255368.3		
MUC4	4585	hgsc.bcm.edu	37	3	195506307	195506354	+	In_Frame_Del	DEL	AGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAC	AGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAC	-	rs144160315|rs62282465|rs62282466|rs202163261|rs529024828|rs148679127|rs201564403|rs563580319|rs368201869|rs146448745|rs200161977|rs200068580|rs547189907|rs561064339|rs145408966|rs559179281	byFrequency	TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	AGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAC	AGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAC					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr3:195506307_195506354delAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAC	ENST00000463781.3	-	2	12556_12603	c.12097_12144delGTTCCTGTCACCAGCACTTCCTCAGCATCCACAGGTGACACCACCCCT	c.(12097-12144)gttcctgtcaccagcacttcctcagcatccacaggtgacaccacccctdel	p.VPVTSTSSASTGDTTP4033del	MUC4_ENST00000475231.1_In_Frame_Del_p.VPVTSTSSASTGDTTP4033del|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.T4046A(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAACAGGGGTGGCG	0.577																																																	2	Substitution - Missense(2)	kidney(2)	3							,,	199,2297		62,75,1111					,,	-1.2	0.0			7	386,3948		120,146,1901	no	intron,coding,intron	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	,,	182,221,3012	A1A1,A1R,RR		8.9063,7.9728,8.5652	,,	,,		585,6245				196991133	SO:0001651	inframe_deletion	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12097_12144delGTTCCTGTCACCAGCACTTCCTCAGCATCCACAGGTGACACCACCCCT	3.37:g.195506307_195506354delAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAC	ENSP00000417498:p.Val4033_Pro4048del	Somatic		Capture	Illumina HiSeq	Phase_I	196991086	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	hgsc.bcm.edu	37	3	195507215	195507262	+	In_Frame_Del	DEL	GAAGAGGGGTGACGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACAT	GAAGAGGGGTGACGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACAT	-	rs553645209|rs74187968|rs375915811|rs201269328|rs569772156|rs199994331|rs200315207|rs201456607|rs567957149|rs370997210|rs535035384|rs367631576|rs532961620|rs537603063|rs199776180	byFrequency	TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	GAAGAGGGGTGACGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACAT	GAAGAGGGGTGACGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACAT					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr3:195507215_195507262delGAAGAGGGGTGACGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACAT	ENST00000463781.3	-	2	11648_11695	c.11189_11236delATGTCACCAGCCCTTCCTCAGCATCCACAGGTCACGTCACCCCTCTTC	c.(11188-11238)catgtcaccagcccttcctcagcatccacaggtcacgtcacccctcttcct>cct	p.HVTSPSSASTGHVTPL3730del	MUC4_ENST00000475231.1_In_Frame_Del_p.HVTSPSSASTGHVTPL3730del|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H3741Q(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTGGTGACAGGAAGAGGGGTGACGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGT	0.577																																																	1	Substitution - Missense(1)	kidney(1)	3																																								196992041	SO:0001651	inframe_deletion	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11189_11236delATGTCACCAGCCCTTCCTCAGCATCCACAGGTCACGTCACCCCTCTTC	3.37:g.195507215_195507262delGAAGAGGGGTGACGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACAT	ENSP00000417498:p.His3730_Leu3745del	Somatic		Capture	Illumina HiSeq	Phase_I	196991994	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	hgsc.bcm.edu	37	3	195508442	195508537	+	In_Frame_Del	DEL	CTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	CTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	-	rs568124972|rs545603027|rs200820395|rs535230509|rs200195189|rs574066429|rs201933946|rs374619108|rs200683272|rs76305071|rs568102602|rs553845624|rs566110482|rs146135943|rs201164988|rs71187746|rs141064104|rs199896372|rs368202391|rs62282476|rs541132330|rs150322486|rs201319965|rs148923966|rs537438050|rs549411987|rs531526881|rs540026448|rs534369822|rs80085168|rs202097189|rs201298940|rs549350827|rs113686997|rs201195860|rs543837546	byFrequency	TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	CTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	CTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr3:195508442_195508537delCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	ENST00000463781.3	-	2	10373_10468	c.9914_10009delTATCCACAGGTCACGCCACTCCTCTTCTTGTCACCGACGCTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAG	c.(9913-10011)gtatccacaggtcacgccactcctcttcttgtcaccgacgcttcctcagcatccacaggtcacgccacccctcttcatgtcaccagcccttcctcagca>gca	p.VSTGHATPLLVTDASSASTGHATPLHVTSPSS3305del	MUC4_ENST00000475231.1_In_Frame_Del_p.VSTGHATPLLVTDASSASTGHATPLHVTSPSS3305del|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.D3317E(2)|p.H3325Q(2)|p.A3310T(2)|p.H3309D(2)|p.V3305A(1)|p.D3317N(1)|p.V3305_S3336delVSTGHATPLLVTDASSASTGHATPLHVTSPSS(1)|p.L3314P(1)|p.V3305_S3320delVSTGHATPLLVTDASS(1)|p.S3317R(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATACTGAGGAAGT	0.574																																																	14	Substitution - Missense(12)|Deletion - In frame(2)	stomach(11)|lung(2)|kidney(1)	3																																								196993316	SO:0001651	inframe_deletion	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.9914_10009delTATCCACAGGTCACGCCACTCCTCTTCTTGTCACCGACGCTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAG	3.37:g.195508442_195508537delCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	ENSP00000417498:p.Val3305_Ser3336del	Somatic		Capture	Illumina HiSeq	Phase_I	196993221	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
RP1L1	94137	hgsc.bcm.edu	37	8	10467706	10467707	+	In_Frame_Ins	INS	-	-	CCC			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr8:10467706_10467707insCCC	ENST00000382483.3	-	4	4124_4125	c.3901_3902insGGG	c.(3901-3903)gtg>gGGGtg	p.1300_1301insG		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1300	8 X 16 AA approximate tandem repeats of T-E-E-G-L-Q-E-E-G-V-Q-L-E-E-T-K.				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTCTAATTGCACCTCTTCTTGC	0.495																																																	0			8																																								10505117	SO:0001652	inframe_insertion	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.3901_3902insGGG	8.37:g.10467706_10467707insCCC	ENSP00000371923:p.Glu1300_Val1301insGly	Somatic		Capture	Illumina HiSeq	Phase_I	10505116	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	In_Frame_Ins	INS	ENST00000382483.3	37	CCDS43708.1																																																																																				RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1		
OR6C76	390326	hgsc.bcm.edu	37	12	55820959	55820959	+	Frame_Shift_Del	DEL	A	A	-	rs397719965|rs57387180		TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr12:55820959delA	ENST00000328314.3	+	1	922	c.922delA	c.(922-924)aaafs	p.K311fs		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GATTTCCCACAAAAAAAAAAA	0.338																																																	0			12											19.0	20.0	19.0					12																	55820959		2110	4120	6230	54107226	SO:0001589	frameshift_variant	390326				CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"""GPCR / Class A : Olfactory receptors"""	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.922delA	12.37:g.55820959delA	ENSP00000328402:p.Lys311fs	Somatic		Capture	Illumina HiSeq	Phase_I	54107226		Frame_Shift_Del	DEL	ENST00000328314.3	37	CCDS31823.1																																																																																				OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406675.1	NM_001005183	
NCOR2	9612	hgsc.bcm.edu	37	12	124824721	124824722	+	In_Frame_Ins	INS	-	-	GCCGCTGCT	rs61519723|rs112797765|rs143952466	byFrequency	TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr12:124824721_124824722insGCCGCTGCT	ENST00000405201.1	-	37	5517_5518	c.5517_5518insAGCAGCGGC	c.(5515-5520)ggcggg>ggcAGCAGCGGCggg	p.1838_1839insGSS	NCOR2_ENST00000404621.1_In_Frame_Ins_p.1828_1829insGSS|NCOR2_ENST00000397355.1_In_Frame_Ins_p.1829_1830insGSS|NCOR2_ENST00000429285.2_In_Frame_Ins_p.1828_1829insGSS|NCOR2_ENST00000356219.3_In_Frame_Ins_p.1845_1846insGSS|NCOR2_ENST00000404121.2_In_Frame_Ins_p.1399_1400insGSS			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1849					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|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 body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		cccccacccccgccgctgctgc	0.713														4762	0.950879	0.8979	0.9496	5008	,	,		14227	0.9633		0.9672	False		,,,				2504	0.9939																0			12																																								123390675	SO:0001652	inframe_insertion	9612			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.5509_5517dupAGCAGCGGC	12.37:g.124824722_124824730dupGCCGCTGCT	ENSP00000384018:p.Gly1836_Ser1838dup	Somatic		Capture	Illumina HiSeq	Phase_I	123390674	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	In_Frame_Ins	INS	ENST00000405201.1	37	CCDS41858.2																																																																																				NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312	
PRR25	388199	hgsc.bcm.edu	37	16	855518	855523	+	In_Frame_Del	DEL	GCAGCT	GCAGCT	-	rs137876084|rs368672563	byFrequency	TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	GCAGCT	GCAGCT					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr16:855518_855523delGCAGCT	ENST00000301698.1	+	1	76_81	c.76_81delGCAGCT	c.(76-81)gcagctdel	p.AA26del		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	26										large_intestine(1)|lung(1)|skin(1)	3						CACGGGTGGGGCAGCTGCACACCCCA	0.631														493	0.0984425	0.0023	0.1052	5008	,	,		18662	0.1855		0.0338	False		,,,				2504	0.2004																0			16								59,3833		7,45,1894						-1.3	0.0		dbSNP_134	27	309,7635		6,297,3669	no	coding	PRR25	NM_001013638.1		13,342,5563	A1A1,A1R,RR		3.8897,1.5159,3.1092				368,11468				795524	SO:0001651	inframe_deletion	0			BC156145	CCDS45372.1	16p13.3	2009-09-11			ENSG00000167945	ENSG00000167945			37230	protein-coding gene	gene with protein product						11157797	Standard	NM_001013638		Approved	gs64	uc010uut.2	Q96S07		ENST00000301698.1:c.76_81delGCAGCT	16.37:g.855518_855523delGCAGCT	ENSP00000301698:p.Ala26_Ala27del	Somatic		Capture	Illumina HiSeq	Phase_I	795519		In_Frame_Del	DEL	ENST00000301698.1	37	CCDS45372.1																																																																																				PRR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440563.1	NM_001013638	
KRTAP4-5	85289	hgsc.bcm.edu	37	17	39305784	39305785	+	In_Frame_Ins	INS	-	-	TGGGGCGGCAGCAGC	rs411367		TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr17:39305784_39305785insTGGGGCGGCAGCAGC	ENST00000343246.4	-	1	269_270	c.235_236insGCTGCTGCCGCCCCA	c.(235-237)tgc>tGCTGCTGCCGCCCCAgc	p.79_80insCCRPS		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	79	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].		C -> CCCRPS.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ctggcagcagcaggggcggcag	0.658																																																	0			17																																								36559311	SO:0001652	inframe_insertion	85289			AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"""Keratin associated proteins"""	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.235_236insGCTGCTGCCGCCCCA	17.37:g.39305784_39305785insTGGGGCGGCAGCAGC	ENSP00000340546:p.Cys79_Cys80insCysCysArgProSer	Somatic		Capture	Illumina HiSeq	Phase_I	36559310		In_Frame_Ins	INS	ENST00000343246.4	37	CCDS32650.1																																																																																				KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1		
RBBP8	5932	hgsc.bcm.edu	37	18	20572853	20572853	+	Frame_Shift_Del	DEL	A	A	-	rs200956310		TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr18:20572853delA	ENST00000399722.2	+	11	1414	c.1063delA	c.(1063-1065)aaafs	p.K357fs	RBBP8_ENST00000399725.2_Frame_Shift_Del_p.K357fs|RBBP8_ENST00000327155.5_Frame_Shift_Del_p.K357fs|RBBP8_ENST00000360790.5_Frame_Shift_Del_p.K357fs	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	357			K -> N (in dbSNP:rs34678569).		blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.K357fs*3(2)|p.K355E(2)		central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			ACAGCCTGGGAAAAAAAAACA	0.363								Homologous recombination																																									4	Substitution - Missense(2)|Deletion - Frameshift(2)	ovary(2)|central_nervous_system(2)	18																																								18826851	SO:0001589	frameshift_variant	5932			AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.1063delA	18.37:g.20572853delA	ENSP00000382628:p.Lys357fs	Somatic		Capture	Illumina HiSeq	Phase_I	18826851	A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Frame_Shift_Del	DEL	ENST00000399722.2	37	CCDS11875.1																																																																																				RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291	
ZNF516	9658	hgsc.bcm.edu	37	18	74090958	74090958	+	Frame_Shift_Del	DEL	G	G	-	rs398079646|rs398033573|rs56087742		TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr18:74090958delG	ENST00000443185.2	-	5	3428	c.3111delC	c.(3109-3111)cccfs	p.P1037fs	RP11-504I13.3_ENST00000583287.1_RNA|ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	1037					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		AGTGTAGGACGGGGGGGCGCC	0.652													GGGGGG|GGGGGGG|GGGGGG|insertion	5008	1.0	1.0	1.0	5008	,	,		13278	1.0		1.0	False		,,,				2504	1.0																0			18								3517,17		1755,7,5	7.0	7.0	7.0			-0.6	0.0	18	dbSNP_131	33	7701,27		3846,9,9	no	frameshift	ZNF516	NM_014643.3		5601,16,14	A1A1,A1R,RR		0.3494,0.481,0.3907			74090958	11218,44	1730	3829	5559	72219946	SO:0001589	frameshift_variant	9658			D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.3111delC	18.37:g.74090958delG	ENSP00000394757:p.Pro1037fs	Somatic		Capture	Illumina HiSeq	Phase_I	72219946		Frame_Shift_Del	DEL	ENST00000443185.2	37																																																																																					ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643	
PROSER3	148137	hgsc.bcm.edu	37	19	36258938	36258938	+	Frame_Shift_Del	DEL	G	G	-	rs398034467|rs5827939		TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr19:36258938delG	ENST00000544099.1	+	9	1254	c.1191delG	c.(1189-1191)cagfs	p.Q397fs	C19orf55_ENST00000396908.4_Splice_Site_p.Q397fs|AC002398.13_ENST00000589397.1_RNA			Q2NL68	PRSR3_HUMAN		326										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCTTGCCCAGGGCCGCCCTG	0.731													GG|GGG|GG|insertion	5008	1.0	1.0	1.0	5008	,	,		11178	1.0		1.0	False		,,,				2504	1.0																0			19											1.0	1.0	1.0					19																	36258938		567	1236	1803	40950778	SO:0001589	frameshift_variant	148137																														ENST00000544099.1:c.1191delG	19.37:g.36258938delG	ENSP00000467267:p.Gln397fs	Somatic		Capture	Illumina HiSeq	Phase_I	40950778	Q8NDI3|Q8WWC8|Q96NL4	Frame_Shift_Del	DEL	ENST00000544099.1	37																																																																																					C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2		
TOX2	84969	hgsc.bcm.edu	37	20	42694558	42694559	+	In_Frame_Ins	INS	-	-	CCG	rs199841880|rs34604629	byFrequency	TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr20:42694558_42694559insCCG	ENST00000358131.5	+	6	1321_1322	c.1113_1114insCCG	c.(1114-1116)ccg>CCGccg	p.372_372P>PP	TOX2_ENST00000423191.2_In_Frame_Ins_p.348_348P>PP|TOX2_ENST00000372999.1_In_Frame_Ins_p.348_348P>PP|TOX2_ENST00000341197.4_In_Frame_Ins_p.390_390P>PP|TOX2_ENST00000435864.2_3'UTR	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	372	Pro-rich.			P -> PP (in Ref. 1; BAF82595). {ECO:0000305}.	female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S347_P348insR(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TCAGTGCGTCCCCGCCGCCGCC	0.713														176	0.0351438	0.0045	0.0648	5008	,	,		13049	0.0		0.1044	False		,,,				2504	0.0204																1	Insertion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)	20							,,,	79,4179		2,75,2052					,,,	1.5	0.1		dbSNP_126	33	928,7320		58,812,3254	no	coding,coding,coding,coding	TOX2	NM_032883.2,NM_001098798.1,NM_001098797.1,NM_001098796.1	,,,	60,887,5306	A1A1,A1R,RR		11.2512,1.8553,8.0521	,,,	,,,		1007,11499				42127973	SO:0001652	inframe_insertion	84969			BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.1120_1122dupCCG	20.37:g.42694565_42694567dupCCG	ENSP00000350849:p.Pro376dup	Somatic		Capture	Illumina HiSeq	Phase_I	42127972	A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	In_Frame_Ins	INS	ENST00000358131.5	37	CCDS42875.1																																																																																				TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2		
LCE1F	353137	hgsc.bcm.edu	37	1	152749037	152749042	+	In_Frame_Del	DEL	GGTGGT	GGTGGT	-	rs202038292|rs200171226|rs149277953	byFrequency	TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	GGTGGT	GGTGGT					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr1:152749037_152749042delGGTGGT	ENST00000334371.2	+	1	190_195	c.190_195delGGTGGT	c.(190-195)ggtggtdel	p.GG64del		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	64	Poly-Gly.				keratinization (GO:0031424)			p.G64_G65delGG(1)		kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCTCTGGGGGTGGTGGCTGCTGCA	0.675														356	0.0710863	0.0136	0.0663	5008	,	,		14489	0.0923		0.1034	False		,,,				2504	0.0971																1	Deletion - In frame(1)	stomach(1)	1								106,4154		4,98,2028						-1.6	0.0		dbSNP_134	9	754,7496		7,740,3378	no	coding	LCE1F	NM_178354.2		11,838,5406	A1A1,A1R,RR		9.1394,2.4883,6.8745				860,11650				151015666	SO:0001651	inframe_deletion	353137				CCDS1023.1	1q21.3	2008-02-05			ENSG00000240386	ENSG00000240386		"""Late cornified envelopes"""	29467	protein-coding gene	gene with protein product		612608				11698679	Standard	NM_178354		Approved	LEP6	uc010pdv.2	Q5T754	OTTHUMG00000012403	ENST00000334371.2:c.190_195delGGTGGT	1.37:g.152749037_152749042delGGTGGT	ENSP00000334187:p.Gly64_Gly65del	Somatic		Capture	Illumina HiSeq	Phase_I	151015661		In_Frame_Del	DEL	ENST00000334371.2	37	CCDS1023.1																																																																																				LCE1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034523.2	NM_178354	
FMN2	56776	hgsc.bcm.edu	37	1	240370914	240370946	+	In_Frame_Del	DEL	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	-	rs199628038|rs193049501|rs562038978|rs141094573|rs4997328|rs4997329|rs188083977|rs145628188|rs71170718|rs371697625	byFrequency	TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr1:240370914_240370946delGCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	ENST00000319653.9	+	5	3032_3064	c.2802_2834delGCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	c.(2800-2835)ctgccccctctacccggagcgggaatacctcctccg>ctg	p.PPLPGAGIPPP935del		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	935	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.G1082R(1)|p.P1081P(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACTCCCTCTGCCCCCTCTACCCGGAGCGGGAATACCTCCTCCGCCCCCTCTA	0.678																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	1								1432,2834		223,986,924						0.9	0.0		dbSNP_114	42	2115,6135		277,1561,2287	no	coding	FMN2	NM_020066.4		500,2547,3211	A1A1,A1R,RR		25.6364,33.5677,28.3397				3547,8969				238437569	SO:0001651	inframe_deletion	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2802_2834delGCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	1.37:g.240370914_240370946delGCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	ENSP00000318884:p.Pro935_Pro945del	Somatic		Capture	Illumina HiSeq	Phase_I	238437537	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	In_Frame_Del	DEL	ENST00000319653.9	37	CCDS31069.2																																																																																				FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352	
RBM43	375287	hgsc.bcm.edu	37	2	152108088	152108088	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr2:152108088delT	ENST00000331426.5	-	4	557	c.406delA	c.(406-408)atcfs	p.I136fs		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	136							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.I136fs*4(1)		endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		AAACTCGGGATTTTTTTTTTC	0.388																																																	1	Deletion - Frameshift(1)	ovary(1)	2								67,49,4116		3,1,60,6,36,2010	81.0	90.0	87.0			4.3	0.8	2	dbSNP_134	89	115,71,8038		0,1,114,8,54,3935	no	codingComplex	RBM43	NM_198557.2		3,2,174,14,90,5945	A1A1,A1A2,A1R,A2A2,A2R,RR		2.2617,2.741,2.4245			152108088	182,120,12154	2198	4292	6490	151816334	SO:0001589	frameshift_variant	375287			AK127552	CCDS2191.1	2q23.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000184898	ENSG00000184898		"""RNA binding motif (RRM) containing"""	24790	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 38"""	C2orf38			Standard	NM_198557		Approved	FLJ45645	uc002txh.3	Q6ZSC3	OTTHUMG00000131866	ENST00000331426.5:c.406delA	2.37:g.152108088delT	ENSP00000331211:p.Ile136fs	Somatic		Capture	Illumina HiSeq	Phase_I	151816334	B2RMT5	Frame_Shift_Del	DEL	ENST00000331426.5	37	CCDS2191.1																																																																																				RBM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254816.2	NM_198557	
DLX2	1746	hgsc.bcm.edu	37	2	172967128	172967129	+	In_Frame_Ins	INS	-	-	GCT	rs201510837|rs376692475	byFrequency	TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr2:172967128_172967129insGCT	ENST00000234198.4	-	1	499_500	c.138_139insAGC	c.(136-141)agcctc>agcAGCctc	p.46_47insS	DLX2_ENST00000466293.2_In_Frame_Ins_p.46_47insS|AC104801.1_ENST00000448117.1_lincRNA	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	46	Poly-Ser.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|cartilage development (GO:0051216)|cerebral cortex GABAergic interneuron fate commitment (GO:0021893)|embryonic cranial skeleton morphogenesis (GO:0048701)|hippocampus development (GO:0021766)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|subpallium development (GO:0021544)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded RNA binding (GO:0003727)			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GGCTTGTGGAGgctgctgctgc	0.738														113	0.0225639	0.0008	0.0865	5008	,	,		12199	0.0387		0.0109	False		,,,				2504	0.002				GBM(188;775 2993 11256 23072)												0			2																																								172675375	SO:0001652	inframe_insertion	9856			U51003	CCDS2248.1	2q31.1	2011-06-20	2005-12-22		ENSG00000115844	ENSG00000115844		"""Homeoboxes / ANTP class : NKL subclass"""	2915	protein-coding gene	gene with protein product		126255	"""distal-less homeo box 2"""			1354641	Standard	NM_004405		Approved	TES-1	uc002uhn.3	Q07687	OTTHUMG00000132276	ENST00000234198.4:c.136_138dupAGC	2.37:g.172967135_172967137dupGCT	ENSP00000234198:p.Ser46_Ser46dup	Somatic		Capture	Illumina HiSeq	Phase_I	172675374	B4DMK4|B7ZA14	In_Frame_Ins	INS	ENST00000234198.4	37	CCDS2248.1																																																																																				DLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255368.3		
MUC4	4585	hgsc.bcm.edu	37	3	195506307	195506354	+	In_Frame_Del	DEL	AGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAC	AGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAC	-	rs144160315|rs62282465|rs62282466|rs202163261|rs529024828|rs148679127|rs201564403|rs563580319|rs368201869|rs146448745|rs200161977|rs200068580|rs547189907|rs561064339|rs145408966|rs559179281	byFrequency	TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	AGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAC	AGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAC					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr3:195506307_195506354delAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAC	ENST00000463781.3	-	2	12556_12603	c.12097_12144delGTTCCTGTCACCAGCACTTCCTCAGCATCCACAGGTGACACCACCCCT	c.(12097-12144)gttcctgtcaccagcacttcctcagcatccacaggtgacaccacccctdel	p.VPVTSTSSASTGDTTP4033del	MUC4_ENST00000475231.1_In_Frame_Del_p.VPVTSTSSASTGDTTP4033del|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.T4046A(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAACAGGGGTGGCG	0.577																																																	2	Substitution - Missense(2)	kidney(2)	3							,,	199,2297		62,75,1111					,,	-1.2	0.0			7	386,3948		120,146,1901	no	intron,coding,intron	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	,,	182,221,3012	A1A1,A1R,RR		8.9063,7.9728,8.5652	,,	,,		585,6245				196991133	SO:0001651	inframe_deletion	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12097_12144delGTTCCTGTCACCAGCACTTCCTCAGCATCCACAGGTGACACCACCCCT	3.37:g.195506307_195506354delAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAC	ENSP00000417498:p.Val4033_Pro4048del	Somatic		Capture	Illumina HiSeq	Phase_I	196991086	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	hgsc.bcm.edu	37	3	195507215	195507262	+	In_Frame_Del	DEL	GAAGAGGGGTGACGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACAT	GAAGAGGGGTGACGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACAT	-	rs553645209|rs74187968|rs375915811|rs201269328|rs569772156|rs199994331|rs200315207|rs201456607|rs567957149|rs370997210|rs535035384|rs367631576|rs532961620|rs537603063|rs199776180	byFrequency	TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	GAAGAGGGGTGACGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACAT	GAAGAGGGGTGACGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACAT					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr3:195507215_195507262delGAAGAGGGGTGACGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACAT	ENST00000463781.3	-	2	11648_11695	c.11189_11236delATGTCACCAGCCCTTCCTCAGCATCCACAGGTCACGTCACCCCTCTTC	c.(11188-11238)catgtcaccagcccttcctcagcatccacaggtcacgtcacccctcttcct>cct	p.HVTSPSSASTGHVTPL3730del	MUC4_ENST00000475231.1_In_Frame_Del_p.HVTSPSSASTGHVTPL3730del|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H3741Q(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTGGTGACAGGAAGAGGGGTGACGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGT	0.577																																																	1	Substitution - Missense(1)	kidney(1)	3																																								196992041	SO:0001651	inframe_deletion	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11189_11236delATGTCACCAGCCCTTCCTCAGCATCCACAGGTCACGTCACCCCTCTTC	3.37:g.195507215_195507262delGAAGAGGGGTGACGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACAT	ENSP00000417498:p.His3730_Leu3745del	Somatic		Capture	Illumina HiSeq	Phase_I	196991994	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	hgsc.bcm.edu	37	3	195508442	195508537	+	In_Frame_Del	DEL	CTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	CTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	-	rs568124972|rs545603027|rs200820395|rs535230509|rs200195189|rs574066429|rs201933946|rs374619108|rs200683272|rs76305071|rs568102602|rs553845624|rs566110482|rs146135943|rs201164988|rs71187746|rs141064104|rs199896372|rs368202391|rs62282476|rs541132330|rs150322486|rs201319965|rs148923966|rs537438050|rs549411987|rs531526881|rs540026448|rs534369822|rs80085168|rs202097189|rs201298940|rs549350827|rs113686997|rs201195860|rs543837546	byFrequency	TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	CTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	CTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr3:195508442_195508537delCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	ENST00000463781.3	-	2	10373_10468	c.9914_10009delTATCCACAGGTCACGCCACTCCTCTTCTTGTCACCGACGCTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAG	c.(9913-10011)gtatccacaggtcacgccactcctcttcttgtcaccgacgcttcctcagcatccacaggtcacgccacccctcttcatgtcaccagcccttcctcagca>gca	p.VSTGHATPLLVTDASSASTGHATPLHVTSPSS3305del	MUC4_ENST00000475231.1_In_Frame_Del_p.VSTGHATPLLVTDASSASTGHATPLHVTSPSS3305del|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.D3317E(2)|p.H3325Q(2)|p.A3310T(2)|p.H3309D(2)|p.V3305A(1)|p.D3317N(1)|p.V3305_S3336delVSTGHATPLLVTDASSASTGHATPLHVTSPSS(1)|p.L3314P(1)|p.V3305_S3320delVSTGHATPLLVTDASS(1)|p.S3317R(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATACTGAGGAAGT	0.574																																																	14	Substitution - Missense(12)|Deletion - In frame(2)	stomach(11)|lung(2)|kidney(1)	3																																								196993316	SO:0001651	inframe_deletion	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.9914_10009delTATCCACAGGTCACGCCACTCCTCTTCTTGTCACCGACGCTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAG	3.37:g.195508442_195508537delCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	ENSP00000417498:p.Val3305_Ser3336del	Somatic		Capture	Illumina HiSeq	Phase_I	196993221	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
RP1L1	94137	hgsc.bcm.edu	37	8	10467706	10467707	+	In_Frame_Ins	INS	-	-	CCC			TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr8:10467706_10467707insCCC	ENST00000382483.3	-	4	4124_4125	c.3901_3902insGGG	c.(3901-3903)gtg>gGGGtg	p.1300_1301insG		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1300	8 X 16 AA approximate tandem repeats of T-E-E-G-L-Q-E-E-G-V-Q-L-E-E-T-K.				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTCTAATTGCACCTCTTCTTGC	0.495																																																	0			8																																								10505117	SO:0001652	inframe_insertion	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.3901_3902insGGG	8.37:g.10467706_10467707insCCC	ENSP00000371923:p.Glu1300_Val1301insGly	Somatic		Capture	Illumina HiSeq	Phase_I	10505116	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	In_Frame_Ins	INS	ENST00000382483.3	37	CCDS43708.1																																																																																				RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1		
OR6C76	390326	hgsc.bcm.edu	37	12	55820959	55820959	+	Frame_Shift_Del	DEL	A	A	-	rs397719965|rs57387180		TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr12:55820959delA	ENST00000328314.3	+	1	922	c.922delA	c.(922-924)aaafs	p.K311fs		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GATTTCCCACAAAAAAAAAAA	0.338																																																	0			12											19.0	20.0	19.0					12																	55820959		2110	4120	6230	54107226	SO:0001589	frameshift_variant	390326				CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"""GPCR / Class A : Olfactory receptors"""	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.922delA	12.37:g.55820959delA	ENSP00000328402:p.Lys311fs	Somatic		Capture	Illumina HiSeq	Phase_I	54107226		Frame_Shift_Del	DEL	ENST00000328314.3	37	CCDS31823.1																																																																																				OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406675.1	NM_001005183	
NCOR2	9612	hgsc.bcm.edu	37	12	124824721	124824722	+	In_Frame_Ins	INS	-	-	GCCGCTGCT	rs61519723|rs112797765|rs143952466	byFrequency	TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr12:124824721_124824722insGCCGCTGCT	ENST00000405201.1	-	37	5517_5518	c.5517_5518insAGCAGCGGC	c.(5515-5520)ggcggg>ggcAGCAGCGGCggg	p.1838_1839insGSS	NCOR2_ENST00000404621.1_In_Frame_Ins_p.1828_1829insGSS|NCOR2_ENST00000397355.1_In_Frame_Ins_p.1829_1830insGSS|NCOR2_ENST00000429285.2_In_Frame_Ins_p.1828_1829insGSS|NCOR2_ENST00000356219.3_In_Frame_Ins_p.1845_1846insGSS|NCOR2_ENST00000404121.2_In_Frame_Ins_p.1399_1400insGSS			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1849					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|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 body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		cccccacccccgccgctgctgc	0.713														4762	0.950879	0.8979	0.9496	5008	,	,		14227	0.9633		0.9672	False		,,,				2504	0.9939																0			12																																								123390675	SO:0001652	inframe_insertion	9612			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.5509_5517dupAGCAGCGGC	12.37:g.124824722_124824730dupGCCGCTGCT	ENSP00000384018:p.Gly1836_Ser1838dup	Somatic		Capture	Illumina HiSeq	Phase_I	123390674	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	In_Frame_Ins	INS	ENST00000405201.1	37	CCDS41858.2																																																																																				NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312	
PRR25	388199	hgsc.bcm.edu	37	16	855518	855523	+	In_Frame_Del	DEL	GCAGCT	GCAGCT	-	rs137876084|rs368672563	byFrequency	TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	GCAGCT	GCAGCT					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr16:855518_855523delGCAGCT	ENST00000301698.1	+	1	76_81	c.76_81delGCAGCT	c.(76-81)gcagctdel	p.AA26del		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	26										large_intestine(1)|lung(1)|skin(1)	3						CACGGGTGGGGCAGCTGCACACCCCA	0.631														493	0.0984425	0.0023	0.1052	5008	,	,		18662	0.1855		0.0338	False		,,,				2504	0.2004																0			16								59,3833		7,45,1894						-1.3	0.0		dbSNP_134	27	309,7635		6,297,3669	no	coding	PRR25	NM_001013638.1		13,342,5563	A1A1,A1R,RR		3.8897,1.5159,3.1092				368,11468				795524	SO:0001651	inframe_deletion	0			BC156145	CCDS45372.1	16p13.3	2009-09-11			ENSG00000167945	ENSG00000167945			37230	protein-coding gene	gene with protein product						11157797	Standard	NM_001013638		Approved	gs64	uc010uut.2	Q96S07		ENST00000301698.1:c.76_81delGCAGCT	16.37:g.855518_855523delGCAGCT	ENSP00000301698:p.Ala26_Ala27del	Somatic		Capture	Illumina HiSeq	Phase_I	795519		In_Frame_Del	DEL	ENST00000301698.1	37	CCDS45372.1																																																																																				PRR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440563.1	NM_001013638	
KRTAP4-5	85289	hgsc.bcm.edu	37	17	39305784	39305785	+	In_Frame_Ins	INS	-	-	TGGGGCGGCAGCAGC	rs411367		TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr17:39305784_39305785insTGGGGCGGCAGCAGC	ENST00000343246.4	-	1	269_270	c.235_236insGCTGCTGCCGCCCCA	c.(235-237)tgc>tGCTGCTGCCGCCCCAgc	p.79_80insCCRPS		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	79	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].		C -> CCCRPS.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ctggcagcagcaggggcggcag	0.658																																																	0			17																																								36559311	SO:0001652	inframe_insertion	85289			AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"""Keratin associated proteins"""	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.235_236insGCTGCTGCCGCCCCA	17.37:g.39305784_39305785insTGGGGCGGCAGCAGC	ENSP00000340546:p.Cys79_Cys80insCysCysArgProSer	Somatic		Capture	Illumina HiSeq	Phase_I	36559310		In_Frame_Ins	INS	ENST00000343246.4	37	CCDS32650.1																																																																																				KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1		
RBBP8	5932	hgsc.bcm.edu	37	18	20572853	20572853	+	Frame_Shift_Del	DEL	A	A	-	rs200956310		TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr18:20572853delA	ENST00000399722.2	+	11	1414	c.1063delA	c.(1063-1065)aaafs	p.K357fs	RBBP8_ENST00000399725.2_Frame_Shift_Del_p.K357fs|RBBP8_ENST00000327155.5_Frame_Shift_Del_p.K357fs|RBBP8_ENST00000360790.5_Frame_Shift_Del_p.K357fs	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	357			K -> N (in dbSNP:rs34678569).		blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.K357fs*3(2)|p.K355E(2)		central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			ACAGCCTGGGAAAAAAAAACA	0.363								Homologous recombination																																									4	Substitution - Missense(2)|Deletion - Frameshift(2)	ovary(2)|central_nervous_system(2)	18																																								18826851	SO:0001589	frameshift_variant	5932			AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.1063delA	18.37:g.20572853delA	ENSP00000382628:p.Lys357fs	Somatic		Capture	Illumina HiSeq	Phase_I	18826851	A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Frame_Shift_Del	DEL	ENST00000399722.2	37	CCDS11875.1																																																																																				RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291	
ZNF516	9658	hgsc.bcm.edu	37	18	74090958	74090958	+	Frame_Shift_Del	DEL	G	G	-	rs398079646|rs398033573|rs56087742		TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr18:74090958delG	ENST00000443185.2	-	5	3428	c.3111delC	c.(3109-3111)cccfs	p.P1037fs	RP11-504I13.3_ENST00000583287.1_RNA|ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	1037					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		AGTGTAGGACGGGGGGGCGCC	0.652													GGGGGG|GGGGGGG|GGGGGG|insertion	5008	1.0	1.0	1.0	5008	,	,		13278	1.0		1.0	False		,,,				2504	1.0																0			18								3517,17		1755,7,5	7.0	7.0	7.0			-0.6	0.0	18	dbSNP_131	33	7701,27		3846,9,9	no	frameshift	ZNF516	NM_014643.3		5601,16,14	A1A1,A1R,RR		0.3494,0.481,0.3907			74090958	11218,44	1730	3829	5559	72219946	SO:0001589	frameshift_variant	9658			D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.3111delC	18.37:g.74090958delG	ENSP00000394757:p.Pro1037fs	Somatic		Capture	Illumina HiSeq	Phase_I	72219946		Frame_Shift_Del	DEL	ENST00000443185.2	37																																																																																					ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643	
PROSER3	148137	hgsc.bcm.edu	37	19	36258938	36258938	+	Frame_Shift_Del	DEL	G	G	-	rs398034467|rs5827939		TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr19:36258938delG	ENST00000544099.1	+	9	1254	c.1191delG	c.(1189-1191)cagfs	p.Q397fs	C19orf55_ENST00000396908.4_Splice_Site_p.Q397fs|AC002398.13_ENST00000589397.1_RNA			Q2NL68	PRSR3_HUMAN		326										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCTTGCCCAGGGCCGCCCTG	0.731													GG|GGG|GG|insertion	5008	1.0	1.0	1.0	5008	,	,		11178	1.0		1.0	False		,,,				2504	1.0																0			19											1.0	1.0	1.0					19																	36258938		567	1236	1803	40950778	SO:0001589	frameshift_variant	148137																														ENST00000544099.1:c.1191delG	19.37:g.36258938delG	ENSP00000467267:p.Gln397fs	Somatic		Capture	Illumina HiSeq	Phase_I	40950778	Q8NDI3|Q8WWC8|Q96NL4	Frame_Shift_Del	DEL	ENST00000544099.1	37																																																																																					C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2		
TOX2	84969	hgsc.bcm.edu	37	20	42694558	42694559	+	In_Frame_Ins	INS	-	-	CCG	rs199841880|rs34604629	byFrequency	TCGA-DY-A0XA-01A-11D-A152-10	TCGA-DY-A0XA-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeee1bff-73f7-4ae7-a9de-a1aa3d4d6004	d3a7343f-ec42-43ca-8539-58d8475a84ed	g.chr20:42694558_42694559insCCG	ENST00000358131.5	+	6	1321_1322	c.1113_1114insCCG	c.(1114-1116)ccg>CCGccg	p.372_372P>PP	TOX2_ENST00000423191.2_In_Frame_Ins_p.348_348P>PP|TOX2_ENST00000372999.1_In_Frame_Ins_p.348_348P>PP|TOX2_ENST00000341197.4_In_Frame_Ins_p.390_390P>PP|TOX2_ENST00000435864.2_3'UTR	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	372	Pro-rich.			P -> PP (in Ref. 1; BAF82595). {ECO:0000305}.	female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S347_P348insR(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TCAGTGCGTCCCCGCCGCCGCC	0.713														176	0.0351438	0.0045	0.0648	5008	,	,		13049	0.0		0.1044	False		,,,				2504	0.0204																1	Insertion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)	20							,,,	79,4179		2,75,2052					,,,	1.5	0.1		dbSNP_126	33	928,7320		58,812,3254	no	coding,coding,coding,coding	TOX2	NM_032883.2,NM_001098798.1,NM_001098797.1,NM_001098796.1	,,,	60,887,5306	A1A1,A1R,RR		11.2512,1.8553,8.0521	,,,	,,,		1007,11499				42127973	SO:0001652	inframe_insertion	84969			BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.1120_1122dupCCG	20.37:g.42694565_42694567dupCCG	ENSP00000350849:p.Pro376dup	Somatic		Capture	Illumina HiSeq	Phase_I	42127972	A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	In_Frame_Ins	INS	ENST00000358131.5	37	CCDS42875.1																																																																																				TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2		
