#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ACAN	176	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	89382024	89382024	+	Silent	SNP	C	C	G			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr15:89382024C>G	ENST00000561243.1	+	2	201	c.201C>G	c.(199-201)gcC>gcG	p.A67A	ACAN_ENST00000352105.7_Silent_p.A67A|ACAN_ENST00000559004.1_Silent_p.A67A|ACAN_ENST00000439576.2_Silent_p.A67A|ACAN_ENST00000558207.1_Silent_p.A67A			P16112	PGCA_HUMAN	aggrecan	67	G1-A.|Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.A67A(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTTCTACCGCCCCACTGGCCC	0.637																																																	2	Substitution - coding silent(2)	kidney(2)											82.0	95.0	91.0					15																	89382024		2027	4173	6200	SO:0001819	synonymous_variant	176			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.201C>G	15.37:g.89382024C>G			Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	37	CCDS53970.1																																																																																				0.637	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2		NM_001135	
ADCK3	56997	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	227174152	227174152	+	Splice_Site	SNP	A	A	T			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr1:227174152A>T	ENST00000366779.1	+	20	4430		c.e20-1		ADCK3_ENST00000366777.3_Splice_Site|ADCK3_ENST00000478406.1_Splice_Site|ADCK3_ENST00000366778.1_Splice_Site|ADCK3_ENST00000433743.2_Splice_Site|ADCK3_ENST00000458507.2_Splice_Site			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3						cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.?(2)		endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						CTCTTGCCCCAGGTCATGGAA	0.597																																																	2	Unknown(2)	kidney(2)											77.0	81.0	79.0					1																	227174152		2203	4300	6503	SO:0001630	splice_region_variant	56997			AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"""coenzyme Q8 homolog (yeast)"""	606980	"""chaperone-ABC1 (activity of bc1 complex, S.pombe)-like"", ""chaperone, ABC1 activity of bc1 complex like (S. pombe)"", ""chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"""	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.1660-1A>T	1.37:g.227174152A>T			Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Splice_Site	SNP	ENST00000366779.1	37	CCDS1557.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.422105	0.83559	.	.	ENSG00000163050	ENST00000366779;ENST00000366778;ENST00000366777;ENST00000366776;ENST00000458507;ENST00000366775;ENST00000405743;ENST00000433743	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0978	0.81139	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADCK3	225240775	1.000000	0.71417	0.998000	0.56505	0.915000	0.54546	9.289000	0.96061	2.206000	0.71126	0.482000	0.46254	.		0.597	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1		NM_020247	Intron
ADSL	158	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	40742638	40742638	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr22:40742638A>C	ENST00000216194.7	+	1	132	c.76A>C	c.(76-78)Atg>Ctg	p.M26L	ADSL_ENST00000342312.6_Missense_Mutation_p.M26L|ADSL_ENST00000454266.2_Missense_Mutation_p.M26L	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	26			M -> L (in ADSL deficiency; severe).		'de novo' AMP biosynthetic process (GO:0044208)|'de novo' IMP biosynthetic process (GO:0006189)|aerobic respiration (GO:0009060)|AMP biosynthetic process (GO:0006167)|metabolic process (GO:0008152)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity (GO:0070626)|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (GO:0004018)	p.M26L(2)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						CAGCCCGGAGATGTGCTTCGT	0.652																																					Colon(4;65 130 1097 1516)												2	Substitution - Missense(2)	kidney(2)	GRCh37	CM990116	ADSL	M							37.0	32.0	34.0					22																	40742638		2203	4300	6503	SO:0001583	missense	158			X65867	CCDS14001.1, CCDS46714.1	22q13.1	2011-02-17			ENSG00000239900	ENSG00000239900	4.3.2.2		291	protein-coding gene	gene with protein product		608222				8404037	Standard	NM_000026		Approved		uc003ayp.4	P30566	OTTHUMG00000166425	ENST00000216194.7:c.76A>C	22.37:g.40742638A>C	ENSP00000216194:p.Met26Leu		B0QY76|O75495|Q5TI34	Missense_Mutation	SNP	ENST00000216194.7	37	CCDS14001.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.571197	0.86542	.	.	ENSG00000239900	ENST00000216194;ENST00000544206;ENST00000425605;ENST00000454266;ENST00000342312	D;D;D	0.95588	-3.48;-3.48;-3.75	4.8	4.8	0.61643	L-Aspartase-like (1);L-Aspartase-like, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93213	0.7838	L	0.48935	1.535	0.80722	D	1	P;P;P;P	0.40066	0.701;0.639;0.531;0.531	B;B;B;B	0.39299	0.285;0.281;0.296;0.296	D	0.93963	0.7242	10	0.72032	D	0.01	-29.2813	14.5069	0.67758	1.0:0.0:0.0:0.0	.	26;26;26;26	E7ERF4;P30566-2;Q71UA4;P30566	.;.;.;PUR8_HUMAN	L	26	ENSP00000216194:M26L;ENSP00000390107:M26L;ENSP00000341429:M26L	ENSP00000216194:M26L	M	+	1	0	ADSL	39072584	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.908000	0.87438	2.148000	0.66965	0.524000	0.50904	ATG		0.652	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321386.1		NM_000026	
AKAP17A	8227	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	1712876	1712876	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chrX:1712876T>C	ENST00000313871.3	+	2	717	c.521T>C	c.(520-522)cTg>cCg	p.L174P	AKAP17A_ENST00000381261.3_Missense_Mutation_p.L174P	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	174	RRM.				B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)	p.L174P(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						GAGGACGTCCTGGTCAAGGTG	0.647																																																	1	Substitution - Missense(1)	kidney(1)											128.0	123.0	125.0					X																	1712876		2203	4296	6499	SO:0001583	missense	8227			L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"""Pseudoautosomal regions / PAR1"", ""A-kinase anchor proteins"""	18783	protein-coding gene	gene with protein product		312095, 465000	"""chromosome X and Y open reading frame 3"", ""splicing factor, arginine/serine-rich 17A"""	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.521T>C	X.37:g.1712876T>C	ENSP00000324827:p.Leu174Pro		Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Missense_Mutation	SNP	ENST00000313871.3	37	CCDS14116.1	.	.	.	.	.	.	.	.	.	.	t	9.172	1.021320	0.19433	.	.	ENSG00000197976	ENST00000313871;ENST00000381261	T;T	0.67171	-0.25;-0.25	2.34	1.07	0.20283	Nucleotide-binding, alpha-beta plait (1);	0.095389	0.44097	U	0.000497	T	0.76154	0.3948	.	.	.	0.44880	D	0.997896	D;B	0.69078	0.997;0.032	D;B	0.66497	0.944;0.053	T	0.73534	-0.3952	9	0.87932	D	0	-15.9312	7.1021	0.25343	0.0:0.122:0.0:0.878	.	174;174	Q02040-3;Q02040	.;AK17A_HUMAN	P	174	ENSP00000324827:L174P;ENSP00000370660:L174P	ENSP00000324827:L174P	L	+	2	0	AKAP17A	1672876	0.998000	0.40836	0.003000	0.11579	0.491000	0.33493	5.773000	0.68898	-0.029000	0.13827	0.084000	0.15446	CTG		0.647	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2		NM_005088	
AKAP6	9472	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	33292027	33292028	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr14:33292027_33292028GG>TT	ENST00000280979.4	+	13	5178_5179	c.5008_5009GG>TT	c.(5008-5010)GGc>TTc	p.G1670F	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1670	Ser-rich.				action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.G1670C(1)|p.G1670>?(1)|p.G1670V(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GTCCTTTACTGGCCAGATGTCA	0.436																																					Melanoma(49;821 1200 7288 13647 42351)												3	Substitution - Missense(2)|Complex(1)	kidney(3)																																								SO:0001583	missense	9472			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	Exception_encountered	14.37:g.33292027_33292028delinsTT	ENSP00000280979:p.Gly1670Phe		A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	CCDS9644.1																																																																																				0.436	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2		NM_004274	
ANO10	55129	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	43618354	43618354	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr3:43618354T>C	ENST00000292246.3	-	6	1162	c.992A>G	c.(991-993)tAt>tGt	p.Y331C	ANO10_ENST00000451430.2_Missense_Mutation_p.Y220C|ANO10_ENST00000414522.2_Missense_Mutation_p.Y331C|ANO10_ENST00000350459.4_Intron|ANO10_ENST00000396091.3_Missense_Mutation_p.Y265C	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	331					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)	p.Y331C(1)		NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						CATCATGACATACAGTGAGAA	0.522																																																	1	Substitution - Missense(1)	kidney(1)											109.0	84.0	92.0					3																	43618354		2203	4300	6503	SO:0001583	missense	55129			AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25519	protein-coding gene	gene with protein product		613726	"""transmembrane protein 16K"""	TMEM16K		12477932, 24692353	Standard	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000292246.3:c.992A>G	3.37:g.43618354T>C	ENSP00000292246:p.Tyr331Cys		A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Missense_Mutation	SNP	ENST00000292246.3	37	CCDS2710.2	.	.	.	.	.	.	.	.	.	.	T	13.42	2.232116	0.39498	.	.	ENSG00000160746	ENST00000292246;ENST00000396091;ENST00000414522;ENST00000451430	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	5.65	4.49	0.54785	.	0.112431	0.64402	D	0.000006	T	0.66790	0.2825	L	0.42245	1.32	0.54753	D	0.999982	B;B;D;B	0.54772	0.011;0.002;0.968;0.001	B;B;P;B	0.58013	0.021;0.022;0.831;0.013	T	0.65886	-0.6059	10	0.46703	T	0.11	.	11.721	0.51683	0.1395:0.0:0.0:0.8605	.	220;331;265;331	Q9NW15-4;C9JHS1;Q9NW15-3;Q9NW15	.;.;.;ANO10_HUMAN	C	331;265;331;220	ENSP00000292246:Y331C;ENSP00000379398:Y265C;ENSP00000396990:Y331C;ENSP00000394119:Y220C	ENSP00000292246:Y331C	Y	-	2	0	ANO10	43593358	1.000000	0.71417	0.632000	0.29296	0.994000	0.84299	4.187000	0.58344	0.966000	0.38159	0.533000	0.62120	TAT		0.522	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256649.2		NM_018075	
ASXL2	55252	hgsc.bcm.edu;ucsc.edu	37	2	25973133	25973136	+	Frame_Shift_Del	DEL	CACT	CACT	-			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	CACT	CACT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr2:25973133_25973136delCACT	ENST00000435504.4	-	12	1582_1585	c.1289_1292delAGTG	c.(1288-1293)gagtgtfs	p.EC430fs	ASXL2_ENST00000404843.1_Frame_Shift_Del_p.EC170fs|ASXL2_ENST00000272341.4_Frame_Shift_Del_p.EC170fs|ASXL2_ENST00000336112.4_Frame_Shift_Del_p.EC402fs			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	430					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTTCTTTACACTCTGACTGGGA	0.466																																																	0																																										SO:0001589	frameshift_variant	55252					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.1289_1292delAGTG	2.37:g.25973133_25973136delCACT	ENSP00000391447:p.Glu430fs		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Frame_Shift_Del	DEL	ENST00000435504.4	37																																																																																					0.466	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3		NM_018263	
ATP1B4	23439	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	119504657	119504657	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chrX:119504657G>A	ENST00000218008.3	+	3	473	c.416G>A	c.(415-417)aGt>aAt	p.S139N	ATP1B4_ENST00000539306.1_Intron|ATP1B4_ENST00000361319.3_Missense_Mutation_p.S135N	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	139					monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)	p.S135N(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						CTGACCATCAGTCCCTATATA	0.493																																																	1	Substitution - Missense(1)	kidney(1)											370.0	306.0	328.0					X																	119504657		2203	4300	6503	SO:0001583	missense	23439			AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"""ATPases / P-type"""	808	protein-coding gene	gene with protein product	"""Na,K-ATPase beta m-subunit"""		"""ATPase, (Na+)/K+ transporting, beta 4 polypeptide"""			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.416G>A	X.37:g.119504657G>A	ENSP00000218008:p.Ser139Asn		Q17RR0|Q9UN41	Missense_Mutation	SNP	ENST00000218008.3	37	CCDS48158.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199262	0.38806	.	.	ENSG00000101892	ENST00000218008;ENST00000361319	T;T	0.33865	1.39;1.39	5.39	4.51	0.55191	.	0.035907	0.85682	D	0.000000	T	0.49695	0.1572	L	0.44542	1.39	0.80722	D	1	B;D;D	0.89917	0.169;1.0;1.0	B;D;D	0.91635	0.124;0.999;0.998	T	0.34551	-0.9824	10	0.24483	T	0.36	-3.7365	13.7975	0.63180	0.0:0.1508:0.8492:0.0	.	104;139;135	B7ZKV9;Q9UN42;Q9UN42-2	.;AT1B4_HUMAN;.	N	139;135	ENSP00000218008:S139N;ENSP00000355346:S135N	ENSP00000218008:S139N	S	+	2	0	ATP1B4	119388685	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	2.859000	0.48364	1.010000	0.39314	0.422000	0.28245	AGT		0.493	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058095.1		NM_001142447	
B4GALT6	9331	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	29207086	29207086	+	Splice_Site	SNP	T	T	G			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr18:29207086T>G	ENST00000306851.5	-	7	1073		c.e7-2		B4GALT6_ENST00000237019.7_Splice_Site|B4GALT6_ENST00000383131.3_Splice_Site	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6						carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)	p.?(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			TATGGAAGACTAGAAAAGAAA	0.353																																																	1	Unknown(1)	kidney(1)											46.0	46.0	46.0					18																	29207086		2203	4300	6503	SO:0001630	splice_region_variant	9331			AF038664	CCDS11900.1	18q11	2013-02-19			ENSG00000118276	ENSG00000118276		"""Beta 4-glycosyltransferases"""	929	protein-coding gene	gene with protein product	"""UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase"""	604017				9597550, 12180132	Standard	NM_004775		Approved	beta4GalT-VI	uc002kwz.4	Q9UBX8	OTTHUMG00000131980	ENST00000306851.5:c.777-2A>C	18.37:g.29207086T>G			O60514|Q6NT09	Splice_Site	SNP	ENST00000306851.5	37	CCDS11900.1	.	.	.	.	.	.	.	.	.	.	T	19.69	3.874107	0.72180	.	.	ENSG00000118276	ENST00000306851;ENST00000237019;ENST00000383131	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7112	0.77629	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	B4GALT6	27461084	1.000000	0.71417	0.923000	0.36655	0.793000	0.44817	8.040000	0.89188	2.190000	0.69967	0.528000	0.53228	.		0.353	B4GALT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254942.2		NM_004775	Intron
BICC1	80114	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	60558280	60558280	+	Silent	SNP	A	A	G			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr10:60558280A>G	ENST00000373886.3	+	11	1492	c.1488A>G	c.(1486-1488)acA>acG	p.T496T	BICC1_ENST00000263103.1_Silent_p.T122T	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	496					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.T496T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						CCAGCCCCACATTATGGGCAC	0.413																																																	1	Substitution - coding silent(1)	kidney(1)											137.0	127.0	130.0					10																	60558280		2203	4300	6503	SO:0001819	synonymous_variant	80114			AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.1488A>G	10.37:g.60558280A>G				Silent	SNP	ENST00000373886.3	37	CCDS31206.1																																																																																				0.413	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2		NM_025044	
C11orf74	119710	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	36680650	36680650	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr11:36680650C>T	ENST00000334307.5	+	6	695	c.580C>T	c.(580-582)Cct>Tct	p.P194S	C11orf74_ENST00000446510.2_Intron|C11orf74_ENST00000347206.4_Missense_Mutation_p.P120S|C11orf74_ENST00000534635.1_Missense_Mutation_p.P120S	NM_138787.2	NP_620142.2	Q86VG3	CK074_HUMAN	chromosome 11 open reading frame 74	194								p.P194S(1)		breast(1)|kidney(1)|large_intestine(1)|lung(5)	8	all_lung(20;0.226)	all_hematologic(20;0.0118)				CAAGTTTAGTCCTGCAGAGAT	0.393																																																	1	Substitution - Missense(1)	kidney(1)											101.0	95.0	97.0					11																	36680650		2202	4298	6500	SO:0001583	missense	119710			AK095997, BC009561	CCDS7904.1, CCDS60762.1	11p12	2012-08-10			ENSG00000166352	ENSG00000166352			25142	protein-coding gene	gene with protein product						12477932	Standard	NM_001276722		Approved	FLJ38678, HEPIS	uc031pzr.1	Q86VG3	OTTHUMG00000166397	ENST00000334307.5:c.580C>T	11.37:g.36680650C>T	ENSP00000334848:p.Pro194Ser		D3DR18|Q96DD6	Missense_Mutation	SNP	ENST00000334307.5	37	CCDS7904.1	.	.	.	.	.	.	.	.	.	.	C	3.769	-0.048020	0.07407	.	.	ENSG00000166352	ENST00000334307;ENST00000347206;ENST00000534635	.	.	.	5.78	-2.17	0.07059	.	1.175590	0.06053	N	0.656871	T	0.37812	0.1017	L	0.54323	1.7	0.30083	N	0.809022	B;B	0.20052	0.004;0.041	B;B	0.17722	0.007;0.019	T	0.34576	-0.9823	8	.	.	.	0.219	4.2604	0.10739	0.1389:0.1883:0.5025:0.1703	.	194;120	Q86VG3;Q86VG3-2	CK074_HUMAN;.	S	194;120;120	.	.	P	+	1	0	C11orf74	36637226	0.812000	0.29077	0.652000	0.29579	0.395000	0.30598	-0.058000	0.11750	-0.195000	0.10382	0.650000	0.86243	CCT		0.393	C11orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389567.1		NM_138787	
KIAA0226L	80183	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	46919734	46919734	+	Splice_Site	SNP	C	C	A			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr13:46919734C>A	ENST00000429979.1	-	13	2237	c.1633G>T	c.(1633-1635)Gca>Tca	p.A545S	KIAA0226L_ENST00000378784.4_Splice_Site_p.A478S|KIAA0226L_ENST00000378787.3_Intron|KIAA0226L_ENST00000389908.3_Splice_Site_p.A545S|KIAA0226L_ENST00000322896.6_Splice_Site_p.A388S|KIAA0226L_ENST00000378797.2_Intron|KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000534925.1_Splice_Site_p.A410S|KIAA0226L_ENST00000409879.2_Splice_Site_p.A388S	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	545								p.A545S(1)		NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						TCCTTTAATGCACTGCCAGAG	0.517																																																	1	Substitution - Missense(1)	kidney(1)											37.0	36.0	36.0					13																	46919734		1924	4128	6052	SO:0001630	splice_region_variant	0			AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 18"""	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.1632-1G>T	13.37:g.46919734C>A			A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	ENST00000429979.1	37	CCDS31970.2	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126426	0.56721	.	.	ENSG00000102445	ENST00000429979;ENST00000378784;ENST00000389908;ENST00000409879;ENST00000322896;ENST00000534925	T;T;T;T	0.44482	0.92;0.92;0.92;0.93	5.35	-2.22	0.06952	.	.	.	.	.	T	0.37489	0.1005	L	0.56769	1.78	0.22975	N	0.998487	B;B;B;B;B	0.29805	0.257;0.257;0.257;0.157;0.217	B;B;B;B;B	0.36030	0.158;0.158;0.216;0.158;0.138	T	0.41893	-0.9483	9	0.10111	T	0.7	0.2713	12.1964	0.54300	0.0:0.5374:0.0:0.4626	.	388;388;545;410;478	B7ZBN5;B7Z6E4;Q9H714;A8KAG9;Q9H714-3	.;.;K226L_HUMAN;.;.	S	545;478;545;388;388;410	ENSP00000396935:A545S;ENSP00000368061:A478S;ENSP00000374558:A545S;ENSP00000437501:A410S	ENSP00000315633:A388S	A	-	1	0	KIAA0226L	45817735	0.000000	0.05858	0.001000	0.08648	0.520000	0.34377	-0.171000	0.09883	-0.368000	0.08040	0.655000	0.94253	GCA		0.517	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2		NM_025113	Missense_Mutation
BORA	79866	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	73309117	73309117	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr13:73309117G>C	ENST00000390667.5	+	4	377	c.280G>C	c.(280-282)Gac>Cac	p.D94H	BORA_ENST00000464754.1_Intron|BORA_ENST00000377815.3_Missense_Mutation_p.D24H	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	94					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)	protein kinase binding (GO:0019901)	p.D94H(1)									AGATGTGGAAGACAAAAGACA	0.274																																																	1	Substitution - Missense(1)	kidney(1)											95.0	94.0	94.0					13																	73309117		1829	4086	5915	SO:0001583	missense	0			BC025367	CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1	13q22.1	2013-08-13	2011-08-09	2011-08-09	ENSG00000136122	ENSG00000136122			24724	protein-coding gene	gene with protein product		610510	"""chromosome 13 open reading frame 34"""	C13orf34		16890155, 18378770, 18566290, 19487276	Standard	NM_001286746		Approved	FLJ22624	uc001viv.1	Q6PGQ7	OTTHUMG00000017068	ENST00000390667.5:c.280G>C	13.37:g.73309117G>C	ENSP00000375082:p.Asp94His		B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Missense_Mutation	SNP	ENST00000390667.5	37	CCDS9446.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.84|18.84	3.708481|3.708481	0.68615|0.68615	.|.	.|.	ENSG00000136122|ENSG00000136122	ENST00000377815;ENST00000390667|ENST00000377814	T;T|.	0.32753|.	1.44;1.44|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.045114|.	0.85682|.	D|.	0.000000|.	T|T	0.69405|0.69405	0.3107|0.3107	L|L	0.48362|0.48362	1.52|1.52	0.50632|0.50632	D|D	0.999882|0.999882	D;P;P|.	0.76494|.	0.999;0.908;0.908|.	D;P;P|.	0.70935|.	0.971;0.497;0.497|.	T|T	0.64533|0.64533	-0.6385|-0.6385	10|5	0.72032|.	D|.	0.01|.	-19.7013|-19.7013	18.7849|18.7849	0.91951|0.91951	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	24;94;94|.	B4DQ30;A8K631;Q6PGQ7|.	.;.;BORA_HUMAN|.	H|T	24;94|71	ENSP00000367046:D24H;ENSP00000375082:D94H|.	ENSP00000367046:D24H|.	D|R	+|+	1|2	0|0	BORA|BORA	72207118|72207118	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.235000|7.235000	0.78143|0.78143	2.757000|2.757000	0.94681|0.94681	0.585000|0.585000	0.79938|0.79938	GAC|AGA		0.274	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045245.3		NM_024808	
C16orf62	57020	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	19576270	19576270	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr16:19576270A>C	ENST00000251143.5	+	2	127	c.115A>C	c.(115-117)Act>Cct	p.T39P	C16orf62_ENST00000417362.2_Missense_Mutation_p.T39P|C16orf62_ENST00000542263.1_Missense_Mutation_p.T128P|C16orf62_ENST00000538853.1_Missense_Mutation_p.T128P|C16orf62_ENST00000438132.3_Missense_Mutation_p.T128P			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	39						integral component of membrane (GO:0016021)		p.T39P(1)|p.T128P(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						GAAACCCATAACTGTAAGTTT	0.433																																																	2	Substitution - Missense(2)	kidney(2)											99.0	88.0	92.0					16																	19576270		2197	4300	6497	SO:0001583	missense	57020				CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.115A>C	16.37:g.19576270A>C	ENSP00000251143:p.Thr39Pro		A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Missense_Mutation	SNP	ENST00000251143.5	37		.	.	.	.	.	.	.	.	.	.	A	24.3	4.515598	0.85389	.	.	ENSG00000103544	ENST00000438132;ENST00000538853;ENST00000542263;ENST00000251143;ENST00000417362	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	5.42	5.42	0.78866	.	0.058198	0.64402	D	0.000002	T	0.61540	0.2355	M	0.67397	2.05	0.80722	D	1	P;D;D	0.63880	0.763;0.974;0.993	B;P;P	0.56563	0.35;0.663;0.801	T	0.66139	-0.5998	10	0.72032	D	0.01	-12.7377	14.632	0.68663	1.0:0.0:0.0:0.0	.	128;39;128	F5H7K1;Q7Z3J2;E7EWW0	.;CP062_HUMAN;.	P	128;128;128;39;39	ENSP00000400815:T128P;ENSP00000444363:T128P;ENSP00000442468:T128P;ENSP00000251143:T39P;ENSP00000395973:T39P	ENSP00000251143:T39P	T	+	1	0	C16orf62	19483771	1.000000	0.71417	0.957000	0.39632	0.953000	0.61014	7.725000	0.84808	2.056000	0.61249	0.374000	0.22700	ACT		0.433	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_020314	
CACNA1G	8913	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	48652948	48652948	+	Silent	SNP	C	C	T			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr17:48652948C>T	ENST00000359106.5	+	8	1185	c.1185C>T	c.(1183-1185)gcC>gcT	p.A395A	CACNA1G_ENST00000360761.4_Silent_p.A395A|CACNA1G_ENST00000514181.1_Silent_p.A395A|CACNA1G_ENST00000514079.1_Silent_p.A395A|CACNA1G_ENST00000503485.1_Silent_p.A395A|CACNA1G_ENST00000442258.2_Silent_p.A395A|CACNA1G_ENST00000507896.1_Silent_p.A395A|CACNA1G_ENST00000505165.1_Silent_p.A395A|CACNA1G_ENST00000507510.2_Silent_p.A395A|CACNA1G_ENST00000513689.2_Silent_p.A395A|CACNA1G_ENST00000429973.2_Silent_p.A395A|CACNA1G_ENST00000352832.5_Silent_p.A395A|CACNA1G_ENST00000510115.1_Silent_p.A395A|CACNA1G_ENST00000507336.1_Silent_p.A395A|CACNA1G_ENST00000416767.4_Silent_p.A395A|CACNA1G_ENST00000515411.1_Silent_p.A395A|CACNA1G_ENST00000514717.1_Silent_p.A395A|CACNA1G_ENST00000515165.1_Silent_p.A395A|CACNA1G_ENST00000512389.1_Silent_p.A395A|CACNA1G_ENST00000354983.4_Silent_p.A395A|CACNA1G_ENST00000513964.1_Silent_p.A395A|CACNA1G_ENST00000502264.1_Silent_p.A395A|CACNA1G_ENST00000515765.1_Silent_p.A395A|CACNA1G_ENST00000507609.1_Silent_p.A395A|CACNA1G_ENST00000358244.5_Silent_p.A395A|CACNA1G_ENST00000510366.1_Silent_p.A395A	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	395					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)	p.A395A(4)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGGTGATTGCCACGCAGTTCT	0.567																																																	4	Substitution - coding silent(4)	kidney(4)											44.0	47.0	46.0					17																	48652948		2163	4271	6434	SO:0001819	synonymous_variant	8913			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.1185C>T	17.37:g.48652948C>T			D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	CCDS45730.1																																																																																				0.567	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1		NM_018896	
CDKN1A	1026	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	36652157	36652157	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr6:36652157G>C	ENST00000405375.1	+	2	514	c.279G>C	c.(277-279)agG>agC	p.R93S	CDKN1A_ENST00000448526.2_Missense_Mutation_p.R127S|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000373711.2_Missense_Mutation_p.R93S|CDKN1A_ENST00000244741.5_Missense_Mutation_p.R93S	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	93					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)	p.R93S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						GAGGAGGCAGGCGGCCTGGCA	0.672																																																	1	Substitution - Missense(1)	kidney(1)											30.0	30.0	30.0					6																	36652157		2203	4300	6503	SO:0001583	missense	1026			U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	ENST00000405375.1:c.279G>C	6.37:g.36652157G>C	ENSP00000384849:p.Arg93Ser		Q14010|Q6FI05|Q9BUT4	Missense_Mutation	SNP	ENST00000405375.1	37	CCDS4824.1	.	.	.	.	.	.	.	.	.	.	G	6.450	0.451112	0.12223	.	.	ENSG00000124762	ENST00000448526;ENST00000244741;ENST00000405375;ENST00000373711	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	5.23	4.34	0.51931	.	0.319912	0.27181	N	0.020555	T	0.24431	0.0592	L	0.29908	0.895	0.21841	N	0.999511	B;B;B	0.22276	0.067;0.02;0.039	B;B;B	0.19946	0.027;0.027;0.027	T	0.07366	-1.0776	10	0.08381	T	0.77	-24.1442	9.9725	0.41763	0.094:0.0:0.906:0.0	.	127;93;93	B4DQP9;P38936;Q96LE1	.;CDN1A_HUMAN;.	S	127;93;93;93	ENSP00000409259:R127S;ENSP00000244741:R93S;ENSP00000384849:R93S;ENSP00000362815:R93S	ENSP00000244741:R93S	R	+	3	2	CDKN1A	36760135	0.996000	0.38824	0.994000	0.49952	0.242000	0.25591	1.818000	0.39012	2.724000	0.93272	0.561000	0.74099	AGG		0.672	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040354.1		NM_078467	
CELSR1	9620	broad.mit.edu;hgsc.bcm.edu	37	22	46807519	46807519	+	Silent	SNP	G	G	T			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr22:46807519G>T	ENST00000262738.3	-	6	4748	c.4749C>A	c.(4747-4749)ggC>ggA	p.G1583G		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1583	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)	p.G1583G(1)		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)		CGGTCTGAGTGCCCTGGGCAG	0.632																																																	1	Substitution - coding silent(1)	kidney(1)											74.0	63.0	67.0					22																	46807519		2203	4300	6503	SO:0001819	synonymous_variant	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.4749C>A	22.37:g.46807519G>T			O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	CCDS14076.1																																																																																				0.632	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1		NM_014246	
CHFR	55743	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	133435664	133435664	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr12:133435664C>T	ENST00000432561.2	-	8	1010	c.937G>A	c.(937-939)Gac>Aac	p.D313N	CHFR_ENST00000443047.2_Missense_Mutation_p.D221N|CHFR_ENST00000450056.2_Missense_Mutation_p.D301N|CHFR_ENST00000266880.7_Missense_Mutation_p.D313N|CHFR_ENST00000537522.1_5'Flank|CHFR_ENST00000315585.7_Missense_Mutation_p.D272N|CHFR_ENST00000541837.2_5'UTR			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	313					mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|modification-dependent protein catabolic process (GO:0019941)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)|PML body (GO:0016605)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D272N(1)|p.D313N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		CTCACGCAGTCGTGCAGCAGG	0.612																																																	2	Substitution - Missense(2)	kidney(2)											210.0	121.0	151.0					12																	133435664		2203	4300	6503	SO:0001583	missense	55743			AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609		"""RING-type (C3HC4) zinc fingers"""	20455	protein-coding gene	gene with protein product		605209	"""checkpoint with forkhead and ring finger domains"""			10935642, 11807090	Standard	NM_001161344		Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000432561.2:c.937G>A	12.37:g.133435664C>T	ENSP00000392395:p.Asp313Asn		A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Missense_Mutation	SNP	ENST00000432561.2	37	CCDS53849.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919901	0.73098	.	.	ENSG00000072609	ENST00000315585;ENST00000443047;ENST00000450056;ENST00000266880;ENST00000541228;ENST00000432561	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	5.49	3.64	0.41730	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.51295	0.1666	L	0.37507	1.11	0.58432	D	0.99999	D;D;D;D;D	0.89917	1.0;0.986;0.989;0.964;0.992	D;P;D;P;P	0.77004	0.989;0.903;0.941;0.724;0.759	T	0.49835	-0.8897	10	0.66056	D	0.02	-13.3146	10.5421	0.45039	0.1333:0.7975:0.0:0.0692	.	221;313;313;301;272	Q96EP1-5;Q96EP1-4;Q96EP1;Q96EP1-2;Q96EP1-3	.;.;CHFR_HUMAN;.;.	N	272;221;301;313;113;313	ENSP00000320557:D272N;ENSP00000416431:D221N;ENSP00000398735:D301N;ENSP00000266880:D313N;ENSP00000392395:D313N	ENSP00000266880:D313N	D	-	1	0	CHFR	131945737	1.000000	0.71417	0.566000	0.28421	0.427000	0.31564	7.255000	0.78338	0.658000	0.30925	0.655000	0.94253	GAC		0.612	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397130.2			
COL6A6	131873	hgsc.bcm.edu;ucsc.edu	37	3	130293169	130293169	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr3:130293169delA	ENST00000358511.6	+	7	3378	c.3347delA	c.(3346-3348)gacfs	p.D1116fs	COL6A6_ENST00000453409.2_Frame_Shift_Del_p.D1116fs	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1116	Nonhelical region.|VWFA 6. {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)				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						CAGTCCCAAGACGAGGTGGCC	0.572																																																	0													76.0	83.0	81.0					3																	130293169		2019	4173	6192	SO:0001589	frameshift_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.3347delA	3.37:g.130293169delA	ENSP00000351310:p.Asp1116fs		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Frame_Shift_Del	DEL	ENST00000358511.6	37	CCDS46911.1																																																																																				0.572	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5		NM_001102608	
COL8A2	1296	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	36563552	36563552	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr1:36563552A>C	ENST00000397799.1	-	4	1954	c.1730T>G	c.(1729-1731)tTc>tGc	p.F577C	COL8A2_ENST00000303143.4_Missense_Mutation_p.F577C|COL8A2_ENST00000481785.1_Missense_Mutation_p.F512C			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	577	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Nonhelical region (NC1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.F577C(1)		NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACCGCAGTGAAGGCCGGTGT	0.662																																																	1	Substitution - Missense(1)	kidney(1)											26.0	25.0	26.0					1																	36563552		2203	4300	6503	SO:0001583	missense	1296			M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"""Collagens"""	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.1730T>G	1.37:g.36563552A>C	ENSP00000380901:p.Phe577Cys		Q5JV31|Q8TEJ5	Missense_Mutation	SNP	ENST00000397799.1	37	CCDS403.1	.	.	.	.	.	.	.	.	.	.	A	17.21	3.332374	0.60853	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000481785;ENST00000373172	D;D;D	0.98585	-5.01;-5.01;-5.01	4.23	4.23	0.50019	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.85682	D	0.000000	D	0.99321	0.9762	H	0.98178	4.165	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98559	1.0640	10	0.54805	T	0.06	.	13.7562	0.62937	1.0:0.0:0.0:0.0	.	577	P25067	CO8A2_HUMAN	C	577;577;512;301	ENSP00000305913:F577C;ENSP00000380901:F577C;ENSP00000436433:F512C	ENSP00000305913:F577C	F	-	2	0	COL8A2	36336139	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	7.294000	0.78760	1.890000	0.54733	0.460000	0.39030	TTC		0.662	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1		NM_005202	
DCN	1634	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	91545456	91545456	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr12:91545456C>A	ENST00000052754.5	-	7	1361	c.860G>T	c.(859-861)gGg>gTg	p.G287V	DCN_ENST00000228329.5_Missense_Mutation_p.G178V|DCN_ENST00000393155.1_Missense_Mutation_p.G287V|DCN_ENST00000552962.1_Missense_Mutation_p.G287V|DCN_ENST00000303320.3_Intron|DCN_ENST00000547568.2_Missense_Mutation_p.G140V|DCN_ENST00000425043.1_Missense_Mutation_p.G140V|DCN_ENST00000420120.2_Missense_Mutation_p.G178V|DCN_ENST00000456569.2_Intron|DCN_ENST00000441303.2_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	287					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)	p.G287V(1)		central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						CTCTGCCAGCCCACCAGGTAC	0.502																																																	1	Substitution - Missense(1)	kidney(1)											138.0	111.0	121.0					12																	91545456		2203	4300	6503	SO:0001583	missense	1634			AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	2705	protein-coding gene	gene with protein product	"""decorin proteoglycan"""	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.860G>T	12.37:g.91545456C>A	ENSP00000052754:p.Gly287Val		Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	ENST00000052754.5	37	CCDS9039.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.9|29.9	5.042046|5.042046	0.93685|0.93685	.|.	.|.	ENSG00000011465|ENSG00000011465	ENST00000052754;ENST00000228329;ENST00000393155;ENST00000425043;ENST00000552962;ENST00000420120;ENST00000547568;ENST00000546391|ENST00000550758	T;T;T;T;T;T;T;T|.	0.04654|.	3.58;3.58;3.58;4.23;3.58;3.58;4.23;4.23|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82628|0.82628	0.5078|0.5078	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.997;0.997;1.0|.	T|T	0.83144|0.83144	-0.0107|-0.0107	10|5	0.87932|.	D|.	0|.	.|.	19.5451|19.5451	0.95291|0.95291	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	287;140;178|.	P07585;P07585-3;P07585-2|.	PGS2_HUMAN;.;.|.	V|C	287;178;287;140;287;178;140;140|56	ENSP00000052754:G287V;ENSP00000228329:G178V;ENSP00000376862:G287V;ENSP00000401021:G140V;ENSP00000447654:G287V;ENSP00000413723:G178V;ENSP00000447674:G140V;ENSP00000446530:G140V|.	ENSP00000052754:G287V|.	G|W	-|-	2|3	0|0	DCN|DCN	90069587|90069587	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.970000|0.970000	0.65996|0.65996	7.776000|7.776000	0.85560|0.85560	2.789000|2.789000	0.95967|0.95967	0.591000|0.591000	0.81541|0.81541	GGG|TGG		0.502	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3		NM_133507	
DNAH10	196385	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	124272412	124272412	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr12:124272412A>T	ENST00000409039.3	+	10	1325	c.1300A>T	c.(1300-1302)Aaa>Taa	p.K434*		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	434	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.K252*(1)|p.K434*(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)		CAGGCTGTGGAAAAAGGCCTA	0.557																																																	2	Substitution - Nonsense(2)	kidney(2)											53.0	52.0	52.0					12																	124272412		2203	4300	6503	SO:0001587	stop_gained	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.1300A>T	12.37:g.124272412A>T	ENSP00000386770:p.Lys434*		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Nonsense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	A	37	6.086269	0.97271	.	.	ENSG00000197653	ENST00000409039	.	.	.	5.55	5.55	0.83447	.	0.157441	0.39759	N	0.001264	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2581	0.66065	1.0:0.0:0.0:0.0	.	.	.	.	X	434	.	ENSP00000386770:K434X	K	+	1	0	DNAH10	122838365	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	9.251000	0.95483	2.102000	0.63906	0.459000	0.35465	AAA		0.557	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			
EBF2	64641	hgsc.bcm.edu	37	8	25708267	25708269	+	In_Frame_Del	DEL	TGA	TGA	-	rs540831300|rs10866845	byFrequency	TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	TGA	TGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr8:25708267_25708269delTGA	ENST00000520164.1	-	15	2074_2076	c.1537_1539delTCA	c.(1537-1539)tcadel	p.S514del	EBF2_ENST00000535548.1_3'UTR|EBF2_ENST00000408929.3_In_Frame_Del_p.S366del	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	514	Pro/Ser/Thr-rich.				adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CGGTGGGACTTGATGACATGACT	0.419																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)												0										0,3862		0,0,1931						5.6	0.9			58	9,7985		0,9,3988	no	coding	EBF2	NM_022659.2		0,9,5919	A1A1,A1R,RR		0.1126,0.0,0.0759				9,11847				SO:0001651	inframe_deletion	64641			AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.1537_1539delTCA	8.37:g.25708270_25708272delTGA	ENSP00000430241:p.Ser514del		A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	In_Frame_Del	DEL	ENST00000520164.1	37	CCDS43726.1																																																																																				0.419	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2		NM_022659	
EIF3M	10480	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	32610272	32610272	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr11:32610272T>C	ENST00000531120.1	+	3	371	c.308T>C	c.(307-309)cTg>cCg	p.L103P	EIF3M_ENST00000524896.1_Intron	NM_006360.4	NP_006351.2			eukaryotic translation initiation factor 3, subunit M									p.L103P(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					TCTCTGAGACTGCAGTTGTAA	0.413																																																	1	Substitution - Missense(1)	kidney(1)											145.0	137.0	140.0					11																	32610272		2202	4299	6501	SO:0001583	missense	10480			AK131064	CCDS7880.1	11p13	2012-12-13	2007-07-27	2007-07-27	ENSG00000149100	ENSG00000149100			24460	protein-coding gene	gene with protein product	"""transport and golgi organization 7 homolog (Drosophila)"""	609641	"""PCI domain containing 1 (herpesvirus entry mediator)"""	PCID1		15919898, 15919899	Standard	NM_006360		Approved	hfl-B5, FLJ29030, GA17, eIF3m, TANGO7	uc001mtu.4	Q7L2H7	OTTHUMG00000166258	ENST00000531120.1:c.308T>C	11.37:g.32610272T>C	ENSP00000436049:p.Leu103Pro			Missense_Mutation	SNP	ENST00000531120.1	37	CCDS7880.1	.	.	.	.	.	.	.	.	.	.	T	17.57	3.422489	0.62622	.	.	ENSG00000149100	ENST00000531120;ENST00000323213;ENST00000533439	T;T	0.35605	1.3;1.3	5.92	5.92	0.95590	.	0.110120	0.64402	D	0.000008	T	0.43590	0.1254	M	0.66297	2.02	0.80722	D	1	P	0.48407	0.91	B	0.43575	0.424	T	0.48433	-0.9036	10	0.72032	D	0.01	-14.3888	16.3593	0.83251	0.0:0.0:0.0:1.0	.	103	Q7L2H7	EIF3M_HUMAN	P	103;40;40	ENSP00000436049:L103P;ENSP00000319910:L40P	ENSP00000319910:L40P	L	+	2	0	EIF3M	32566848	1.000000	0.71417	0.984000	0.44739	0.309000	0.27889	7.698000	0.84413	2.267000	0.75376	0.383000	0.25322	CTG		0.413	EIF3M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388762.2		NM_006360	
F2R	2149	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	76028881	76028881	+	Silent	SNP	C	C	A			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr5:76028881C>A	ENST00000319211.4	+	2	1096	c.831C>A	c.(829-831)gtC>gtA	p.V277V		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	277					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPKK activity (GO:0000186)|anatomical structure morphogenesis (GO:0009653)|blood coagulation (GO:0007596)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|G-protein coupled receptor signaling pathway (GO:0007186)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of renin secretion into blood stream (GO:1900134)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of blood coagulation (GO:0030194)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood coagulation (GO:0030193)|regulation of interleukin-1 beta production (GO:0032651)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|STAT protein import into nucleus (GO:0007262)|tyrosine phosphorylation of STAT protein (GO:0007260)	caveola (GO:0005901)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|platelet dense tubular network (GO:0031094)|postsynaptic membrane (GO:0045211)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)	p.V277V(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	TCTCTGCTGTCTTCTTTTTTG	0.507																																																	1	Substitution - coding silent(1)	kidney(1)											137.0	142.0	140.0					5																	76028881		2203	4300	6503	SO:0001819	synonymous_variant	2149			M62424	CCDS4032.1	5q13	2012-08-08			ENSG00000181104	ENSG00000181104		"""GPCR / Class A : Protease activated receptors"""	3537	protein-coding gene	gene with protein product		187930				8395910	Standard	NM_001992		Approved	TR, CF2R, PAR1, PAR-1	uc003ken.4	P25116	OTTHUMG00000131299	ENST00000319211.4:c.831C>A	5.37:g.76028881C>A			Q53XV0|Q96RF7|Q9BUN4	Silent	SNP	ENST00000319211.4	37	CCDS4032.1																																																																																				0.507	F2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254068.2			
FAM179A	165186	broad.mit.edu;ucsc.edu	37	2	29221046	29221048	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	CAT	CAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr2:29221046_29221048delCAT	ENST00000379558.4	+	3	417_419	c.66_68delCAT	c.(64-69)agcatc>agc	p.I23del	FAM179A_ENST00000403861.2_In_Frame_Del_p.I23del	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	23										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACTGCGGGAGCATCCCTCGGACC	0.626																																																	0																																										SO:0001651	inframe_deletion	165186			AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.66_68delCAT	2.37:g.29221046_29221048delCAT	ENSP00000368876:p.Ile23del		Q6ZUF5	In_Frame_Del	DEL	ENST00000379558.4	37	CCDS1769.2																																																																																				0.626	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4		NM_199280	
FBXO43	286151	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	101153402	101153402	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr8:101153402delC	ENST00000428847.2	-	2	1396	c.1080delG	c.(1078-1080)cagfs	p.Q360fs		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	360					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CCTTATGTTTCTGCAGTAGTT	0.463																																																	0													130.0	121.0	124.0					8																	101153402		1864	4097	5961	SO:0001589	frameshift_variant	286151			BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"""F-boxes /  ""other"""""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.1080delG	8.37:g.101153402delC	ENSP00000403293:p.Gln360fs			Frame_Shift_Del	DEL	ENST00000428847.2	37	CCDS47904.1																																																																																				0.463	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1		XM_209918	
FRG1B	284802	broad.mit.edu	37	20	29624093	29624093	+	Splice_Site	SNP	G	G	T	rs75468660		TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr20:29624093G>T	ENST00000278882.3	+	4	496		c.e4+1		FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B									p.?(6)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CTGATTCCAGGTGAGCTTATG	0.299																																																	6	Unknown(6)	kidney(4)|prostate(2)																																								SO:0001630	splice_region_variant	284802					20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.116+1G>T	20.37:g.29624093G>T			C4AME5	Splice_Site	SNP	ENST00000278882.3	37		.	.	.	.	.	.	.	.	.	.	.	11.58	1.679853	0.29783	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	.	.	.	1.91	1.91	0.25777	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8627	0.41125	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FRG1B	28237754	1.000000	0.71417	0.991000	0.47740	0.586000	0.36452	7.759000	0.85235	1.383000	0.46405	0.184000	0.17185	.		0.299	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2		NR_003579	Intron
FSTL1	11167	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	120130797	120130797	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr3:120130797T>G	ENST00000295633.3	-	4	558	c.202A>C	c.(202-204)Agt>Cgt	p.S68R	FSTL1_ENST00000424703.2_Missense_Mutation_p.S33R	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	68	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				BMP signaling pathway (GO:0030509)|response to starvation (GO:0042594)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.S68R(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		TTGCCATTACTGCCACACACA	0.473																																																	1	Substitution - Missense(1)	kidney(1)											224.0	179.0	194.0					3																	120130797		2203	4300	6503	SO:0001583	missense	11167			U06863	CCDS2998.1	3q13.33	2013-01-10			ENSG00000163430	ENSG00000163430		"""EF-hand domain containing"""	3972	protein-coding gene	gene with protein product		605547				7957230, 9786430	Standard	NM_007085		Approved	FRP, FSL1	uc003eds.3	Q12841	OTTHUMG00000159440	ENST00000295633.3:c.202A>C	3.37:g.120130797T>G	ENSP00000295633:p.Ser68Arg		A8K523|B4DTT5|D3DN90|Q549Z0	Missense_Mutation	SNP	ENST00000295633.3	37	CCDS2998.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.677524	0.88445	.	.	ENSG00000163430	ENST00000295633;ENST00000424703;ENST00000469005	T;T;T	0.05580	3.42;3.42;3.42	5.22	5.22	0.72569	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.000000	0.85682	D	0.000000	T	0.34483	0.0899	M	0.93854	3.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.995;0.995	T	0.47355	-0.9124	10	0.87932	D	0	-20.277	14.2861	0.66247	0.0:0.0:0.0:1.0	.	33;68;68	B4DTT5;A8K523;Q12841	.;.;FSTL1_HUMAN	R	68;33;68	ENSP00000295633:S68R;ENSP00000394355:S33R;ENSP00000418505:S68R	ENSP00000295633:S68R	S	-	1	0	FSTL1	121613487	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.249000	0.78278	1.977000	0.57605	0.454000	0.30748	AGT		0.473	FSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355399.1		NM_007085	
GIGYF1	64599	hgsc.bcm.edu	37	7	100285169	100285170	+	Frame_Shift_Ins	INS	-	-	G	rs553150910		TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr7:100285169_100285170insG	ENST00000275732.5	-	4	1540_1541	c.331_332insC	c.(331-333)ctgfs	p.L111fs	GIGYF1_ENST00000471340.2_5'UTR	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	111					insulin-like growth factor receptor signaling pathway (GO:0048009)			p.L111fs*234(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGTGCCAGCCAGGGGGGGGCCA	0.673																																																	1	Deletion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	64599			AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.332dupC	7.37:g.100285177_100285177dupG	ENSP00000275732:p.Leu111fs		Q6Y7W7|Q8WZ38	Frame_Shift_Ins	INS	ENST00000275732.5	37	CCDS34708.1																																																																																				0.673	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2		NM_022574	
GOLGA8CP	729786	broad.mit.edu	37	15	20777925	20777925	+	RNA	SNP	G	G	T	rs201114356	byFrequency	TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr15:20777925G>T	ENST00000408427.1	+	0	83				RN7SL759P_ENST00000485130.2_RNA														p.G385V(2)									CCTGTGCAAGGAGAGACCAGG	0.617																																																	2	Substitution - Missense(2)	kidney(2)																																										0																															15.37:g.20777925G>T				Missense_Mutation	SNP	ENST00000408427.1	37																																																																																					0.617	AC131280.1-201	NOVEL	basic	miRNA	miRNA				
IRAK1	3654	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	153278782	153278782	+	Missense_Mutation	SNP	C	C	T	rs140583367		TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chrX:153278782C>T	ENST00000369980.3	-	12	1809	c.1642G>A	c.(1642-1644)Gtg>Atg	p.V548M	IRAK1_ENST00000393687.2_Missense_Mutation_p.V518M|IRAK1_ENST00000369974.2_Missense_Mutation_p.V469M|IRAK1_ENST00000429936.2_Missense_Mutation_p.V544M|IRAK1_ENST00000393682.1_Missense_Mutation_p.V529M|IRAK1_ENST00000477274.1_Intron	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	548					activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)	p.V548M(2)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGCTGGACACGTAGGAGTTC	0.682																																																	2	Substitution - Missense(2)	kidney(2)						C	MET/VAL,MET/VAL,MET/VAL	1,3805		0,1,1628,548	18.0	21.0	20.0		1552,1405,1642	-4.7	0.0	X	dbSNP_134	20	0,6672		0,0,2419,1834	no	missense,missense,missense	IRAK1	NM_001025242.1,NM_001025243.1,NM_001569.3	21,21,21	0,1,4047,2382	TT,TC,CC,C		0.0,0.0263,0.0095	benign,benign,benign	518/683,469/634,548/713	153278782	1,10477	2177	4253	6430	SO:0001583	missense	3654			L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.1642G>A	X.37:g.153278782C>T	ENSP00000358997:p.Val548Met		D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Missense_Mutation	SNP	ENST00000369980.3	37	CCDS14740.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.775|3.775	-0.046920|-0.046920	0.07407|0.07407	2.63E-4|2.63E-4	0.0|0.0	ENSG00000184216|ENSG00000184216	ENST00000444254;ENST00000443220|ENST00000369980;ENST00000369974;ENST00000393682;ENST00000393687;ENST00000429936	.|T;T;T;T;T	.|0.72725	.|-0.65;-0.67;-0.67;-0.65;-0.68	5.62|5.62	-4.65|-4.65	0.03339|0.03339	.|.	.|0.948232	.|0.08763	.|N	.|0.897516	T|T	0.44623|0.44623	0.1302|0.1302	N|N	0.11201|0.11201	0.11|0.11	0.09310|0.09310	N|N	1|1	.|B;B;P	.|0.35656	.|0.138;0.38;0.514	.|B;B;B	.|0.25506	.|0.021;0.027;0.061	T|T	0.14144|0.14144	-1.0483|-1.0483	5|10	.|0.22706	.|T	.|0.39	-3.4653|-3.4653	14.5481|14.5481	0.68047|0.68047	0.0:0.1619:0.0:0.8381|0.0:0.1619:0.0:0.8381	.|.	.|469;548;518	.|P51617-4;P51617;P51617-2	.|.;IRAK1_HUMAN;.	H|M	103;296|548;469;529;518;544	.|ENSP00000358997:V548M;ENSP00000358991:V469M;ENSP00000377287:V529M;ENSP00000377291:V518M;ENSP00000392662:V544M	.|ENSP00000358991:V469M	R|V	-|-	2|1	0|0	IRAK1|IRAK1	152931976|152931976	0.001000|0.001000	0.12720|0.12720	0.007000|0.007000	0.13788|0.13788	0.069000|0.069000	0.16628|0.16628	-1.138000|-1.138000	0.03216|0.03216	-1.103000|-1.103000	0.03019|0.03019	-0.192000|-0.192000	0.12808|0.12808	CGT|GTG		0.682	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061143.3			
ITPR3	3710	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	33639879	33639879	+	Silent	SNP	C	C	T	rs370555491		TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr6:33639879C>T	ENST00000374316.5	+	23	3862	c.2802C>T	c.(2800-2802)tcC>tcT	p.S934S	ITPR3_ENST00000605930.1_Silent_p.S934S			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	934					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.S934S(2)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GCAAGCAGTCCGTCTTCAGTG	0.607																																																	2	Substitution - coding silent(2)	kidney(2)						C		1,4405	2.1+/-5.4	0,1,2202	90.0	79.0	83.0		2802	-3.4	1.0	6		83	0,8600		0,0,4300	no	coding-synonymous	ITPR3	NM_002224.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		934/2672	33639879	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3710			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.2802C>T	6.37:g.33639879C>T			Q14649|Q5TAQ2	Silent	SNP	ENST00000374316.5	37	CCDS4783.1																																																																																				0.607	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2		NM_002224	
KRT24	192666	hgsc.bcm.edu	37	17	38856334	38856335	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr17:38856334_38856335insG	ENST00000264651.2	-	5	1114_1115	c.1058_1059insC	c.(1057-1059)gcafs	p.A353fs		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	353	Coil 2.|Rod.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CAGAAGTGGCTGCCCCAGCATC	0.47																																					GBM(61;380 1051 14702 23642 31441)												0																																										SO:0001589	frameshift_variant	192666				CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.1059dupC	17.37:g.38856335_38856335dupG	ENSP00000264651:p.Ala353fs		Q9NXG7	Frame_Shift_Ins	INS	ENST00000264651.2	37	CCDS11372.1																																																																																				0.470	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1		NM_019016	
LAMC3	10319	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	133914596	133914596	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr9:133914596G>C	ENST00000361069.4	+	6	1377	c.1244G>C	c.(1243-1245)tGt>tCt	p.C415S	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	415	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)	p.C415S(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TGTGACCGCTGTCTGCCCGGG	0.632																																																	1	Substitution - Missense(1)	kidney(1)											57.0	51.0	53.0					9																	133914596		2203	4300	6503	SO:0001583	missense	10319			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.1244G>C	9.37:g.133914596G>C	ENSP00000354360:p.Cys415Ser		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	CCDS6938.1	.	.	.	.	.	.	.	.	.	.	G	30	5.053492	0.93793	.	.	ENSG00000050555	ENST00000361069;ENST00000355048;ENST00000320021	D	0.94280	-3.39	5.12	5.12	0.69794	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	D	0.98473	0.9491	H	0.99764	4.76	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99716	1.1008	10	0.87932	D	0	.	17.504	0.87739	0.0:0.0:1.0:0.0	.	415	Q9Y6N6	LAMC3_HUMAN	S	415	ENSP00000354360:C415S	ENSP00000325873:C415S	C	+	2	0	LAMC3	132904417	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.591000	0.98241	2.534000	0.85438	0.655000	0.94253	TGT		0.632	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3		NM_006059	
LOC81691	81691	broad.mit.edu;ucsc.edu	37	16	20851655	20851655	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr16:20851655G>T	ENST00000261377.6	+	15	1700	c.1491G>T	c.(1489-1491)atG>atT	p.M497I	AC004381.6_ENST00000564274.1_Missense_Mutation_p.M497I|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000348433.6_Missense_Mutation_p.M497I	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2												p.M497I(1)									TCCTACAGATGAGGATCAAGT	0.388																																																	1	Substitution - Missense(1)	kidney(1)											87.0	83.0	84.0					16																	20851655		2201	4300	6501	SO:0001583	missense	81691																														ENST00000261377.6:c.1491G>T	16.37:g.20851655G>T	ENSP00000261377:p.Met497Ile			Missense_Mutation	SNP	ENST00000261377.6	37	CCDS10591.1	.	.	.	.	.	.	.	.	.	.	G	9.253	1.041183	0.19669	.	.	ENSG00000005189	ENST00000348433;ENST00000261377	T;T	0.32272	1.46;1.87	4.98	4.02	0.46733	.	0.321656	0.31909	N	0.006874	T	0.24236	0.0587	L	0.41824	1.3	0.32133	N	0.586449	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.17531	-1.0366	10	0.33141	T	0.24	-12.0692	10.6023	0.45373	0.0918:0.0:0.9082:0.0	.	497;497	Q96IC2-2;Q96IC2	.;REXON_HUMAN	I	497	ENSP00000261378:M497I;ENSP00000261377:M497I	ENSP00000261377:M497I	M	+	3	0	AC004381.6	20759156	1.000000	0.71417	0.531000	0.27976	0.209000	0.24338	3.421000	0.52742	1.084000	0.41184	0.462000	0.41574	ATG		0.388	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254418.2			
MLLT10	8028	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	22002761	22002761	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr10:22002761C>T	ENST00000307729.7	+	14	1938	c.1760C>T	c.(1759-1761)tCt>tTt	p.S587F	MLLT10_ENST00000377072.3_Missense_Mutation_p.S603F|MLLT10_ENST00000446906.2_Missense_Mutation_p.S587F|MLLT10_ENST00000377059.3_Missense_Mutation_p.S587F			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	587	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S587F(1)|p.S603F(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GGCTCGGGATCTAGTACTCCT	0.433			T	"""MLL, PICALM, CDK6"""	AL																																			Dom	yes		10	10p12	8028	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""		L	2	Substitution - Missense(2)	kidney(2)											132.0	127.0	129.0					10																	22002761		2203	4300	6503	SO:0001583	missense	8028			U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.1760C>T	10.37:g.22002761C>T	ENSP00000307411:p.Ser587Phe		B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	CCDS55708.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.609593	0.87258	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059;ENST00000438473;ENST00000538639	T;T;T;T	0.09911	2.93;2.93;2.93;2.93	5.79	5.79	0.91817	.	0.055739	0.85682	D	0.000000	T	0.28200	0.0696	L	0.44542	1.39	0.58432	D	0.999996	D;D;D;D	0.76494	0.999;0.998;0.99;0.998	D;D;D;D	0.83275	0.996;0.991;0.974;0.993	T	0.00180	-1.1948	10	0.66056	D	0.02	.	18.204	0.89848	0.0:1.0:0.0:0.0	.	282;587;587;603	Q5HYC6;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	F	603;587;587;422;587;246;245	ENSP00000366272:S603F;ENSP00000401406:S587F;ENSP00000307411:S587F;ENSP00000366258:S587F	ENSP00000307411:S587F	S	+	2	0	MLLT10	22042767	1.000000	0.71417	0.978000	0.43139	0.995000	0.86356	3.536000	0.53582	2.727000	0.93392	0.563000	0.77884	TCT		0.433	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			
MRC2	9902	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	60757631	60757631	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr17:60757631G>A	ENST00000303375.5	+	15	2801	c.2399G>A	c.(2398-2400)tGc>tAc	p.C800Y	MRC2_ENST00000446119.2_5'Flank	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	800	C-type lectin 4. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)	p.C800Y(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GCCATGCAGTGCGACACACAG	0.652																																																	1	Substitution - Missense(1)	kidney(1)											59.0	57.0	58.0					17																	60757631		2203	4300	6503	SO:0001583	missense	9902			AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.2399G>A	17.37:g.60757631G>A	ENSP00000307513:p.Cys800Tyr		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843126	0.91197	.	.	ENSG00000011028	ENST00000303375	T	0.60672	0.17	5.41	5.41	0.78517	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.85682	D	0.000000	D	0.84042	0.5385	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88801	0.3285	10	0.87932	D	0	-38.0267	19.1979	0.93696	0.0:0.0:1.0:0.0	.	800	Q9UBG0	MRC2_HUMAN	Y	800	ENSP00000307513:C800Y	ENSP00000307513:C800Y	C	+	2	0	MRC2	58111363	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	9.229000	0.95273	2.539000	0.85634	0.305000	0.20034	TGC		0.652	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			
MTOR	2475	broad.mit.edu;hgsc.bcm.edu	37	1	11291426	11291426	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr1:11291426C>A	ENST00000361445.4	-	17	2656	c.2580G>T	c.(2578-2580)aaG>aaT	p.K860N		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	860					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.K860N(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	AAGTAGGGTACTTCCTGTAGG	0.517																																																	1	Substitution - Missense(1)	kidney(1)											155.0	145.0	149.0					1																	11291426		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.2580G>T	1.37:g.11291426C>A	ENSP00000354558:p.Lys860Asn		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170534	0.78452	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.08370	3.1	5.84	4.83	0.62350	Domain of unknown function DUF3385,  target of rapamycin protein (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.25644	0.0624	M	0.76574	2.34	0.80722	D	1	D	0.63046	0.992	D	0.63283	0.913	T	0.00194	-1.1933	10	0.72032	D	0.01	-21.4844	13.4212	0.60998	0.0:0.8975:0.0:0.1025	.	860	P42345	MTOR_HUMAN	N	860	ENSP00000354558:K860N	ENSP00000354558:K860N	K	-	3	2	MTOR	11214013	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	0.614000	0.24314	2.765000	0.95021	0.655000	0.94253	AAG		0.517	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1		NM_004958	
MYNN	55892	broad.mit.edu;hgsc.bcm.edu	37	3	169492076	169492076	+	5'UTR	SNP	A	A	G			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr3:169492076A>G	ENST00000349841.5	+	0	656				RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000356716.4_5'UTR|RP11-816J6.3_ENST00000602879.1_RNA|MYNN_ENST00000392733.1_5'UTR|MYNN_ENST00000544106.1_5'UTR	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TTCCATTCTGATATCAAAATG	0.418																																																	0													124.0	122.0	123.0					3																	169492076		2203	4300	6503	SO:0001623	5_prime_UTR_variant	55892			AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.-8A>G	3.37:g.169492076A>G			B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	RNA	SNP	ENST00000349841.5	37	CCDS3207.1																																																																																				0.418	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467801.1		NM_018657	
MYO1F	4542	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	8592225	8592225	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr19:8592225A>T	ENST00000338257.8	-	22	2738	c.2471T>A	c.(2470-2472)cTc>cAc	p.L824H		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	824	Myosin tail. {ECO:0000255}.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)	p.L824H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GCTTCACCTGAGGGAGACTCC	0.557																																																	1	Substitution - Missense(1)	kidney(1)											56.0	63.0	61.0					19																	8592225		2109	4217	6326	SO:0001583	missense	4542			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.2471T>A	19.37:g.8592225A>T	ENSP00000344871:p.Leu824His		Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.548135	0.86022	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	T	0.51817	0.69	5.67	5.67	0.87782	Myosin tail 2 (1);	0.072869	0.56097	D	0.000029	T	0.76428	0.3986	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.83253	-0.0052	10	0.87932	D	0	.	15.1414	0.72612	1.0:0.0:0.0:0.0	.	824	O00160	MYO1F_HUMAN	H	869;824	ENSP00000344871:L824H	ENSP00000304899:L869H	L	-	2	0	MYO1F	8498225	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	8.885000	0.92439	2.168000	0.68352	0.529000	0.55759	CTC		0.557	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			
MYO5C	55930	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	52510811	52510811	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr15:52510811C>T	ENST00000261839.7	-	32	4020	c.3859G>A	c.(3859-3861)Gag>Aag	p.E1287K		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1287						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E1287K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TCACTGGCCTCCTGCATTTCT	0.463																																																	1	Substitution - Missense(1)	kidney(1)											105.0	96.0	99.0					15																	52510811		1886	4120	6006	SO:0001583	missense	55930			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.3859G>A	15.37:g.52510811C>T	ENSP00000261839:p.Glu1287Lys		Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	37	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.103359	0.37145	.	.	ENSG00000128833	ENST00000261839	T	0.23950	1.88	6.11	3.22	0.36961	.	0.379749	0.28236	N	0.016089	T	0.13586	0.0329	N	0.19112	0.55	0.09310	N	0.999998	B	0.27559	0.181	B	0.18561	0.022	T	0.19516	-1.0303	10	0.30078	T	0.28	.	7.6044	0.28093	0.0:0.7216:0.1352:0.1433	.	1287	Q9NQX4	MYO5C_HUMAN	K	1287	ENSP00000261839:E1287K	ENSP00000261839:E1287K	E	-	1	0	MYO5C	50298103	0.998000	0.40836	0.001000	0.08648	0.741000	0.42261	2.216000	0.42871	0.459000	0.27016	0.655000	0.94253	GAG		0.463	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1		NM_018728	
NAALADL2	254827	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	174815003	174815003	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr3:174815003C>G	ENST00000454872.1	+	2	595	c.467C>G	c.(466-468)tCt>tGt	p.S156C	NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS3_ENST00000453180.1_RNA	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	156						integral component of membrane (GO:0016021)		p.S156C(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GATGCTCCATCTTCAGGAACA	0.363																																																	1	Substitution - Missense(1)	kidney(1)											98.0	99.0	99.0					3																	174815003		1835	4090	5925	SO:0001583	missense	254827				CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.467C>G	3.37:g.174815003C>G	ENSP00000404705:p.Ser156Cys		Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	ENST00000454872.1	37	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423567	0.43020	.	.	ENSG00000177694	ENST00000454872	T	0.35605	1.3	5.63	5.63	0.86233	.	0.670467	0.13805	N	0.361552	T	0.38241	0.1033	N	0.19112	0.55	0.21719	N	0.999574	D;D	0.69078	0.966;0.997	P;P	0.55303	0.773;0.707	T	0.22730	-1.0208	9	.	.	.	-5.3159	14.2484	0.66004	0.0:0.9286:0.0:0.0714	.	139;156	Q58DX5-2;Q58DX5	.;NADL2_HUMAN	C	156	ENSP00000404705:S156C	.	S	+	2	0	NAALADL2	176297697	0.883000	0.30277	0.389000	0.26208	0.422000	0.31414	1.998000	0.40796	2.803000	0.96430	0.585000	0.79938	TCT		0.363	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2		NM_207015	
NGF	4803	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	115829228	115829228	+	Silent	SNP	C	C	A			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr1:115829228C>A	ENST00000369512.2	-	3	357	c.189G>T	c.(187-189)gtG>gtT	p.V63V	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	63					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)	p.V63V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TCTGCCCCGCCACGCGTGCAG	0.627																																																	1	Substitution - coding silent(1)	kidney(1)											43.0	45.0	44.0					1																	115829228		2203	4300	6503	SO:0001819	synonymous_variant	4803				CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"""Endogenous ligands"""	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.189G>T	1.37:g.115829228C>A			A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Silent	SNP	ENST00000369512.2	37	CCDS882.1																																																																																				0.627	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1		NM_002506	
NOS1	4842	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	117703219	117703219	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr12:117703219C>T	ENST00000338101.4	-	11	2042	c.2038G>A	c.(2038-2040)Gac>Aac	p.D680N	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Missense_Mutation_p.D680N			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.D680N(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CACACCCAGTCGGCAGGGCAG	0.587																																					Esophageal Squamous(162;1748 2599 51982 52956)												1	Substitution - Missense(1)	kidney(1)											30.0	34.0	33.0					12																	117703219		2122	4266	6388	SO:0001583	missense	4842				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.2038G>A	12.37:g.117703219C>T	ENSP00000337459:p.Asp680Asn			Missense_Mutation	SNP	ENST00000338101.4	37	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	C	36	5.758047	0.96898	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.35421	1.31;1.31	5.37	5.37	0.77165	Nitric oxide synthase, oxygenase domain (2);	0.000000	0.85682	D	0.000000	T	0.63815	0.2543	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66674	-0.5864	10	0.87932	D	0	-54.3802	18.8892	0.92391	0.0:1.0:0.0:0.0	.	680	P29475	NOS1_HUMAN	N	575;680;680;680	ENSP00000320758:D680N;ENSP00000337459:D680N	ENSP00000320758:D680N	D	-	1	0	NOS1	116187602	1.000000	0.71417	0.980000	0.43619	0.979000	0.70002	7.564000	0.82326	2.793000	0.96121	0.655000	0.94253	GAC		0.587	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			
NRG1	3084	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	32505280	32505280	+	Intron	SNP	G	G	C			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr8:32505280G>C	ENST00000405005.3	+	5	502				NRG1_ENST00000519301.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000520502.2_Missense_Mutation_p.R15T|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000341377.5_Intron			Q02297	NRG1_HUMAN	neuregulin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.R15T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GCCGCCGAGAGGTCCTCCAGC	0.602																																																	1	Substitution - Missense(1)	kidney(1)											33.0	35.0	34.0					8																	32505280		2203	4299	6502	SO:0001627	intron_variant	3084			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.502+30877G>C	8.37:g.32505280G>C			A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	G	4.014	0.000070	0.07819	.	.	ENSG00000157168	ENST00000520502	.	.	.	6.08	5.2	0.72013	.	.	.	.	.	T	0.35537	0.0935	N	0.12182	0.205	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.10450	0.005;0.003	T	0.17440	-1.0369	8	0.08179	T	0.78	.	12.1958	0.54296	0.0677:0.1271:0.8052:0.0	.	15;15	Q53F54;Q02297-10	.;.	T	15	.	ENSP00000433289:R15T	R	+	2	0	NRG1	32624822	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	1.753000	0.38359	2.894000	0.99253	0.655000	0.94253	AGG		0.602	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			
OIT3	170392	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	74673124	74673124	+	Silent	SNP	T	T	C			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr10:74673124T>C	ENST00000334011.5	+	6	1067	c.849T>C	c.(847-849)ggT>ggC	p.G283G		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	283	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.G283G(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					AGCTGGTTGGTGGCCTGGAGC	0.532																																					Colon(7;19 345 13446 17537)												1	Substitution - coding silent(1)	kidney(1)											168.0	156.0	160.0					10																	74673124		2203	4300	6503	SO:0001819	synonymous_variant	170392				CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.849T>C	10.37:g.74673124T>C			A0AVP3|Q8N1M8	Silent	SNP	ENST00000334011.5	37	CCDS7318.1																																																																																				0.532	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1		NM_152635	
OLFM1	10439	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	137990174	137990174	+	Missense_Mutation	SNP	G	G	C	rs371301894		TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr9:137990174G>C	ENST00000371793.3	+	4	750	c.499G>C	c.(499-501)Gtg>Ctg	p.V167L	OLFM1_ENST00000371796.3_Missense_Mutation_p.V140L|OLFM1_ENST00000252854.4_Missense_Mutation_p.V149L	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	167					negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)	p.V149L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		TTTGATACCTGTGTTGGAAGA	0.458																																																	1	Substitution - Missense(1)	kidney(1)											115.0	109.0	111.0					9																	137990174		2203	4300	6503	SO:0001583	missense	10439			AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"""pancortin"""	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.499G>C	9.37:g.137990174G>C	ENSP00000360858:p.Val167Leu		Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Missense_Mutation	SNP	ENST00000371793.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.5|22.5	4.292672|4.292672	0.80914|0.80914	.|.	.|.	ENSG00000130558|ENSG00000130558	ENST00000545657|ENST00000252854;ENST00000339720;ENST00000371796;ENST00000539529;ENST00000371793;ENST00000539877	.|D;T;D;T;D;D	.|0.87650	.|-2.28;1.32;-2.27;0.34;-2.28;-2.02	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91153|0.91153	0.7214|0.7214	L|L	0.48642|0.48642	1.525|1.525	0.80722|0.80722	D|D	1|1	.|D;P	.|0.64830	.|0.994;0.849	.|D;B	.|0.70716	.|0.97;0.39	D|D	0.90736|0.90736	0.4646|0.4646	5|10	.|0.44086	.|T	.|0.13	.|.	18.5994|18.5994	0.91242|0.91242	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|167;149	.|Q99784;Q6IMJ8	.|NOE1_HUMAN;.	S|L	26|149;156;140;84;167;64	.|ENSP00000252854:V149L;ENSP00000340318:V156L;ENSP00000360861:V140L;ENSP00000444296:V84L;ENSP00000360858:V167L;ENSP00000443806:V64L	.|ENSP00000252854:V149L	C|V	+|+	2|1	0|0	OLFM1|OLFM1	137129995|137129995	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.558000|9.558000	0.98132|0.98132	2.466000|2.466000	0.83321|0.83321	0.637000|0.637000	0.83480|0.83480	TGT|GTG		0.458	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1		NM_014279	
OR2W1	26692	broad.mit.edu;hgsc.bcm.edu	37	6	29012082	29012082	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr6:29012082T>A	ENST00000377175.1	-	1	935	c.871A>T	c.(871-873)Acc>Tcc	p.T291S		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T291S(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						TTTCTTAAGGTGTAAATGAGC	0.428																																																	1	Substitution - Missense(1)	kidney(1)											67.0	57.0	61.0					6																	29012082		1511	2709	4220	SO:0001583	missense	26692			AL035402	CCDS4656.1	6p22.1	2012-08-09			ENSG00000204704	ENSG00000204704		"""GPCR / Class A : Olfactory receptors"""	8281	protein-coding gene	gene with protein product							Standard	NM_030903		Approved	hs6M1-15	uc003nlw.2	Q9Y3N9	OTTHUMG00000031048	ENST00000377175.1:c.871A>T	6.37:g.29012082T>A	ENSP00000366380:p.Thr291Ser		B0S7Y5|Q5JNZ1|Q6IEU0|Q96R17|Q9GZL0|Q9GZL1	Missense_Mutation	SNP	ENST00000377175.1	37	CCDS4656.1	.	.	.	.	.	.	.	.	.	.	T	15.51	2.854359	0.51270	.	.	ENSG00000204704	ENST00000377175	T	0.36157	1.27	4.79	4.79	0.61399	.	0.000000	0.52532	D	0.000070	T	0.14141	0.0342	N	0.05330	-0.07	0.23665	N	0.997161	D	0.55385	0.971	P	0.52309	0.695	T	0.03706	-1.1011	10	0.51188	T	0.08	.	8.7147	0.34403	0.1695:0.0:0.0:0.8304	.	291	Q9Y3N9	OR2W1_HUMAN	S	291	ENSP00000366380:T291S	ENSP00000366380:T291S	T	-	1	0	OR2W1	29120061	0.003000	0.15002	0.988000	0.46212	0.965000	0.64279	0.237000	0.17985	1.766000	0.52107	0.482000	0.46254	ACC		0.428	OR2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076053.2			
OR7G1	125962	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9225524	9225524	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr19:9225524C>A	ENST00000541538.1	-	1	915	c.916G>T	c.(916-918)Ggt>Tgt	p.G306C	OR7G1_ENST00000293614.1_Splice_Site_p.G306C	NM_001005192.2	NP_001005192.2	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	306						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G306C(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						AACAGCCTACCAATAAGTTTC	0.418																																																	1	Substitution - Missense(1)	kidney(1)											106.0	96.0	99.0					19																	9225524		2203	4300	6503	SO:0001583	missense	125962				CCDS32898.1, CCDS32898.2	19p13.2	2013-09-24			ENSG00000161807	ENSG00000161807		"""GPCR / Class A : Olfactory receptors"""	8465	protein-coding gene	gene with protein product				OR7G1P			Standard	NM_001005192		Approved	OR19-15	uc021uoi.1	Q8NGA0	OTTHUMG00000168067	ENST00000541538.1:c.916G>T	19.37:g.9225524C>A	ENSP00000444134:p.Gly306Cys		Q6IFJ5|Q96RA1	Missense_Mutation	SNP	ENST00000541538.1	37	CCDS32898.2	.	.	.	.	.	.	.	.	.	.	c	5.638	0.302300	0.10678	.	.	ENSG00000161807	ENST00000293614;ENST00000541538	T;T	0.36340	1.26;1.26	2.67	-5.34	0.02705	.	1.480890	0.05039	U	0.475970	T	0.29556	0.0737	L	0.51853	1.615	0.09310	N	1	B	0.15141	0.012	B	0.15870	0.014	T	0.32561	-0.9902	10	0.59425	D	0.04	.	6.2189	0.20671	0.1386:0.5947:0.0:0.2667	.	306	Q8NGA0	OR7G1_HUMAN	C	306	ENSP00000293614:G306C;ENSP00000444134:G306C	ENSP00000293614:G306C	G	-	1	0	OR7G1	9086524	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-4.348000	0.00248	-1.718000	0.01383	0.501000	0.49751	GGC;GGT		0.418	OR7G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397912.1			
OR7G1	125962	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9226001	9226001	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr19:9226001G>C	ENST00000541538.1	-	1	438	c.439C>G	c.(439-441)Ctc>Gtc	p.L147V	OR7G1_ENST00000293614.1_Missense_Mutation_p.L147V	NM_001005192.2	NP_001005192.2	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L147V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						AACATGGAGAGAAGAATCAGC	0.483																																																	1	Substitution - Missense(1)	kidney(1)											85.0	88.0	87.0					19																	9226001		2203	4300	6503	SO:0001583	missense	125962				CCDS32898.1, CCDS32898.2	19p13.2	2013-09-24			ENSG00000161807	ENSG00000161807		"""GPCR / Class A : Olfactory receptors"""	8465	protein-coding gene	gene with protein product				OR7G1P			Standard	NM_001005192		Approved	OR19-15	uc021uoi.1	Q8NGA0	OTTHUMG00000168067	ENST00000541538.1:c.439C>G	19.37:g.9226001G>C	ENSP00000444134:p.Leu147Val		Q6IFJ5|Q96RA1	Missense_Mutation	SNP	ENST00000541538.1	37	CCDS32898.2	.	.	.	.	.	.	.	.	.	.	g	1.684	-0.505749	0.04261	.	.	ENSG00000161807	ENST00000293614;ENST00000541538	T;T	0.37584	1.19;1.19	3.78	-7.55	0.01327	GPCR, rhodopsin-like superfamily (1);	1.609780	0.04400	U	0.363984	T	0.14313	0.0346	N	0.05487	-0.04	0.09310	N	1	B	0.20052	0.041	B	0.29267	0.1	T	0.24048	-1.0171	10	0.02654	T	1	.	5.2998	0.15772	0.1416:0.4954:0.1926:0.1704	.	147	Q8NGA0	OR7G1_HUMAN	V	147	ENSP00000293614:L147V;ENSP00000444134:L147V	ENSP00000293614:L147V	L	-	1	0	OR7G1	9087001	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.821000	0.04452	-2.362000	0.00609	-0.412000	0.06146	CTC		0.483	OR7G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397912.1			
PAK4	10298	broad.mit.edu;ucsc.edu	37	19	39664492	39664492	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr19:39664492C>A	ENST00000593690.1	+	6	1367	c.940C>A	c.(940-942)Cca>Aca	p.P314T	PAK4_ENST00000435673.2_Missense_Mutation_p.P314T|PAK4_ENST00000321944.4_Missense_Mutation_p.P224T|PAK4_ENST00000360442.3_Missense_Mutation_p.P314T|PAK4_ENST00000358301.3_Missense_Mutation_p.P314T|PAK4_ENST00000599386.1_Missense_Mutation_p.P161T|PAK4_ENST00000599470.1_Missense_Mutation_p.P161T	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	314	GEF-interaction domain (GID).|Linker.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.P314T(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			GGTGGTGGACCCAGGCGACCC	0.677																																																	1	Substitution - Missense(1)	kidney(1)											25.0	23.0	24.0					19																	39664492		2202	4300	6502	SO:0001583	missense	10298			AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"""p21(CDKN1A)-activated kinase 4"""			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.940C>A	19.37:g.39664492C>A	ENSP00000469413:p.Pro314Thr		B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Missense_Mutation	SNP	ENST00000593690.1	37	CCDS12528.1	.	.	.	.	.	.	.	.	.	.	c	3.828	-0.036407	0.07497	.	.	ENSG00000130669	ENST00000358301;ENST00000321944;ENST00000358801;ENST00000542377;ENST00000435673;ENST00000360442	T;T;T	0.72725	-0.68;-0.68;-0.68	4.38	3.34	0.38264	Protein kinase-like domain (1);	0.125962	0.53938	D	0.000043	T	0.66356	0.2781	M	0.72894	2.215	0.58432	D	0.999991	B;B;P	0.35600	0.433;0.156;0.511	B;B;B	0.38378	0.219;0.128;0.272	T	0.60010	-0.7346	10	0.14656	T	0.56	.	9.8952	0.41314	0.0:0.8987:0.0:0.1013	.	224;161;314	O96013-4;O96013-3;O96013	.;.;PAK4_HUMAN	T	314;161;118;70;314;314	ENSP00000351049:P314T;ENSP00000392753:P314T;ENSP00000353625:P314T	ENSP00000326864:P161T	P	+	1	0	PAK4	44356332	1.000000	0.71417	0.845000	0.33349	0.148000	0.21650	7.513000	0.81739	1.062000	0.40625	0.555000	0.69702	CCA		0.677	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463823.1			
PAPOLG	64895	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	61020826	61020826	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr2:61020826C>T	ENST00000238714.3	+	18	1993	c.1744C>T	c.(1744-1746)Ctt>Ttt	p.L582F		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	582					mRNA polyadenylation (GO:0006378)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)	p.L582F(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			AGCCCAAGGACTTTCCATTCC	0.383																																					GBM(183;1497 2932 21839 46797)												1	Substitution - Missense(1)	kidney(1)											54.0	50.0	51.0					2																	61020826		2203	4300	6503	SO:0001583	missense	64895			AC012498	CCDS1863.1	2p16.1	2008-02-08			ENSG00000115421	ENSG00000115421	2.7.7.19		14982	protein-coding gene	gene with protein product							Standard	NM_022894		Approved	FLJ12972	uc002sai.3	Q9BWT3	OTTHUMG00000129419	ENST00000238714.3:c.1744C>T	2.37:g.61020826C>T	ENSP00000238714:p.Leu582Phe		B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0	Missense_Mutation	SNP	ENST00000238714.3	37	CCDS1863.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.811932	0.32053	.	.	ENSG00000115421	ENST00000238714;ENST00000378104;ENST00000412217	.	.	.	5.61	3.79	0.43588	.	0.309199	0.34484	N	0.003939	T	0.66336	0.2779	L	0.51422	1.61	0.39800	D	0.97255	P;D;P	0.89917	0.868;1.0;0.713	B;D;B	0.85130	0.312;0.997;0.359	T	0.66504	-0.5907	9	0.42905	T	0.14	-27.408	8.5766	0.33603	0.1272:0.7299:0.0:0.1428	.	271;116;582	E9PEP5;Q53T81;Q9BWT3	.;.;PAPOG_HUMAN	F	582;271;250	.	ENSP00000238714:L582F	L	+	1	0	PAPOLG	60874330	0.992000	0.36948	0.838000	0.33150	0.363000	0.29612	0.369000	0.20416	1.501000	0.48654	0.655000	0.94253	CTT		0.383	PAPOLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251577.3		NM_022894	
PARD6A	50855	hgsc.bcm.edu	37	16	67695546	67695547	+	Frame_Shift_Ins	INS	-	-	C	rs188685722		TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr16:67695546_67695547insC	ENST00000219255.3	+	2	332_333	c.252_253insC	c.(253-255)cccfs	p.P85fs	PARD6A_ENST00000602551.1_Intron|PARD6A_ENST00000458121.2_Frame_Shift_Ins_p.P85fs|ACD_ENST00000393919.4_5'Flank|ENKD1_ENST00000602409.1_5'Flank|ACD_ENST00000219251.8_5'Flank			Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	85	Interaction with PRKCI and PRKCZ.|OPR.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction maintenance (GO:0045217)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	GTP-dependent protein binding (GO:0030742)|Rho GTPase binding (GO:0017048)|transcription factor binding (GO:0008134)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TGGCCAGCGGGCCCCCGCCACT	0.658																																																	0																																										SO:0001589	frameshift_variant	50855				CCDS10843.1, CCDS45514.1	16q22.1-q22.3	2013-08-28	2013-08-28		ENSG00000102981	ENSG00000102981			15943	protein-coding gene	gene with protein product		607484	"""par-6 (partitioning defective 6, C.elegans) homolog alpha"", ""par-6 partitioning defective 6 homolog alpha (C. elegans)"""			9482110, 11260256	Standard	XM_005255977		Approved	PAR-6, PAR-6A, TAX40, PAR6alpha, TIP-40	uc002ett.3	Q9NPB6	OTTHUMG00000137534	ENST00000219255.3:c.257dupC	16.37:g.67695551_67695551dupC	ENSP00000219255:p.Pro85fs		O14911|Q9NPJ7	Frame_Shift_Ins	INS	ENST00000219255.3	37	CCDS10843.1																																																																																				0.658	PARD6A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268863.2		NM_016948	
PBRM1	55193	hgsc.bcm.edu	37	3	52649437	52649437	+	Silent	SNP	G	G	A			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr3:52649437G>A	ENST00000296302.7	-	15	1855	c.1854C>T	c.(1852-1854)ctC>ctT	p.L618L	PBRM1_ENST00000394830.3_Silent_p.L618L|PBRM1_ENST00000337303.4_Silent_p.L618L|PBRM1_ENST00000356770.4_Silent_p.L586L|PBRM1_ENST00000410007.1_Silent_p.L618L|PBRM1_ENST00000409767.1_Silent_p.L633L|PBRM1_ENST00000409057.1_Silent_p.L618L|PBRM1_ENST00000409114.3_Silent_p.L633L			Q86U86	PB1_HUMAN	polybromo 1	618					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTTTCTCCTTGAGTAACTTCT	0.373			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	0													114.0	103.0	107.0					3																	52649437		2203	4300	6503	SO:0001819	synonymous_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1854C>T	3.37:g.52649437G>A			A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Silent	SNP	ENST00000296302.7	37																																																																																					0.373	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PCDH20	64881	hgsc.bcm.edu;ucsc.edu	37	13	61985426	61985426	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr13:61985426delT	ENST00000409186.1	-	5	4911	c.2806delA	c.(2806-2808)attfs	p.I936fs	PCDH20_ENST00000409204.4_Frame_Shift_Del_p.I936fs			Q8N6Y1	PCD20_HUMAN	protocadherin 20	936					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TGCAAGTCAATTTTTCCTTTC	0.373																																																	0													93.0	88.0	90.0					13																	61985426		2203	4300	6503	SO:0001589	frameshift_variant	64881			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.2806delA	13.37:g.61985426delT	ENSP00000386653:p.Ile936fs		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Frame_Shift_Del	DEL	ENST00000409186.1	37	CCDS9442.2																																																																																				0.373	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2		NM_022843	
PCDH20	64881	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	61985497	61985497	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr13:61985497C>G	ENST00000409186.1	-	5	4840	c.2735G>C	c.(2734-2736)tGt>tCt	p.C912S	PCDH20_ENST00000409204.4_Missense_Mutation_p.C912S			Q8N6Y1	PCD20_HUMAN	protocadherin 20	912					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.C912S(1)|p.C885S(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TTTCCTTAAACAGATGTATAT	0.433																																																	2	Substitution - Missense(2)	kidney(2)											89.0	78.0	82.0					13																	61985497		2203	4300	6503	SO:0001583	missense	64881			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.2735G>C	13.37:g.61985497C>G	ENSP00000386653:p.Cys912Ser		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266329	0.80358	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.58652	0.32;0.32	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000001	T	0.68284	0.2984	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.61019	-0.7147	10	0.27082	T	0.32	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	912	A8K1K9	.	S	912;912;658	ENSP00000387250:C912S;ENSP00000386653:C912S	ENSP00000351500:C658S	C	-	2	0	PCDH20	60883498	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.440000	0.80464	2.885000	0.99019	0.655000	0.94253	TGT		0.433	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2		NM_022843	
PCK1	5105	hgsc.bcm.edu;ucsc.edu	37	20	56140707	56140709	+	In_Frame_Del	DEL	CAA	CAA	-	rs570650529		TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	CAA	CAA	CAA	-	CAA	CAA	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr20:56140707_56140709delCAA	ENST00000319441.4	+	10	1880_1882	c.1716_1718delCAA	c.(1714-1719)atcaac>atc	p.N573del	PCK1_ENST00000543666.1_In_Frame_Del_p.N256del	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	573					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TGGGGCACATCAACATGATGGAG	0.532																																																	0																																										SO:0001651	inframe_deletion	5105				CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.1716_1718delCAA	20.37:g.56140707_56140709delCAA	ENSP00000319814:p.Asn573del		A8K437|B4DT64|Q8TCA3|Q9UJD2	In_Frame_Del	DEL	ENST00000319441.4	37	CCDS13460.1																																																																																				0.532	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			
PI4KA	5297	broad.mit.edu;ucsc.edu	37	22	21152931	21152931	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr22:21152931A>C	ENST00000572273.1	-	17	2105	c.1875T>G	c.(1873-1875)agT>agG	p.S625R	PI4KA_ENST00000255882.6_Missense_Mutation_p.S683R			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	625					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.S625R(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TGGCCTTCACACTGATCTGCT	0.488																																					GBM(136;1332 1831 3115 23601 50806)												2	Substitution - Missense(2)	kidney(2)											210.0	181.0	191.0					22																	21152931		2203	4300	6503	SO:0001583	missense	5297			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.1875T>G	22.37:g.21152931A>C	ENSP00000458238:p.Ser625Arg		Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37		.	.	.	.	.	.	.	.	.	.	A	22.2	4.255852	0.80135	.	.	ENSG00000241973	ENST00000255882	.	.	.	4.75	-2.53	0.06326	.	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	N	0.22421	0.69	0.80722	D	1	B;D	0.54601	0.39;0.967	B;P	0.56434	0.281;0.798	T	0.45745	-0.9240	9	0.52906	T	0.07	-14.6397	11.7465	0.51823	0.6749:0.0:0.3251:0.0	.	683;625	D3DX33;P42356	.;PI4KA_HUMAN	R	625	.	ENSP00000255882:S625R	S	-	3	2	PI4KA	19482931	0.995000	0.38212	0.996000	0.52242	0.997000	0.91878	0.571000	0.23669	-0.330000	0.08514	0.402000	0.26972	AGT		0.488	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_058004	
PIWIL3	440822	hgsc.bcm.edu;ucsc.edu	37	22	25131751	25131754	+	Frame_Shift_Del	DEL	TGTG	TGTG	-			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	TGTG	TGTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr22:25131751_25131754delTGTG	ENST00000332271.5	-	13	1971_1974	c.1555_1558delCACA	c.(1555-1560)cacagafs	p.HR519fs	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Frame_Shift_Del_p.HR410fs|PIWIL3_ENST00000527701.1_Frame_Shift_Del_p.HR410fs	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	519					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ATGGCTTCTCTGTGACTGCTCCTG	0.431																																																	0																																										SO:0001589	frameshift_variant	440822			AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.1555_1558delCACA	22.37:g.25131751_25131754delTGTG	ENSP00000330031:p.His519fs			Frame_Shift_Del	DEL	ENST00000332271.5	37	CCDS33623.1																																																																																				0.431	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2		NM_001008496	
PLOD2	5352	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	145820619	145820619	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr3:145820619C>G	ENST00000360060.3	-	7	877	c.700G>C	c.(700-702)Gaa>Caa	p.E234Q	RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000282903.5_Missense_Mutation_p.E234Q|PLOD2_ENST00000494950.1_Missense_Mutation_p.E179Q	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	234					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)	p.E234Q(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TTGCCATTTTCAAATTTTAAA	0.328																																																	1	Substitution - Missense(1)	kidney(1)											90.0	88.0	89.0					3																	145820619		2202	4299	6501	SO:0001583	missense	5352			U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"""lysyl hydroxlase 2"""	601865	"""procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"""			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.700G>C	3.37:g.145820619C>G	ENSP00000353170:p.Glu234Gln		B3KWS3|Q59ED2|Q8N170	Missense_Mutation	SNP	ENST00000360060.3	37	CCDS3131.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020940	0.93462	.	.	ENSG00000152952	ENST00000282903;ENST00000360060;ENST00000494950;ENST00000469350	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	5.22	5.22	0.72569	.	0.049631	0.85682	D	0.000000	T	0.51517	0.1679	M	0.71581	2.175	0.80722	D	1	D;D;P	0.56968	0.969;0.978;0.89	P;P;P	0.56916	0.597;0.809;0.686	T	0.53387	-0.8446	10	0.52906	T	0.07	-11.7641	18.7977	0.92001	0.0:1.0:0.0:0.0	.	179;234;234	E7ETU9;O00469;O00469-2	.;PLOD2_HUMAN;.	Q	234;234;179;206	ENSP00000282903:E234Q;ENSP00000353170:E234Q;ENSP00000420094:E179Q;ENSP00000419963:E206Q	ENSP00000282903:E234Q	E	-	1	0	PLOD2	147303309	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.274000	0.78538	2.418000	0.82041	0.655000	0.94253	GAA		0.328	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1		NM_000935	
POLR3K	51728	hgsc.bcm.edu	37	16	103487	103489	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	TGT	TGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr16:103487_103489delTGT	ENST00000293860.5	-	1	139_141	c.98_100delACA	c.(97-102)aacatc>atc	p.N33del	SNRNP25_ENST00000383018.3_5'Flank	NM_016310.3	NP_057394.2	Q9Y2Y1	RPC10_HUMAN	polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa	33					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				TTGCGGGTGATGTTGTGCACGTA	0.7											OREG0003710	type=REGULATORY REGION|Gene=C16orf33|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0																																										SO:0001651	inframe_deletion	51728			AF051316	CCDS10395.1	16p13.3	2013-01-21	2002-08-29		ENSG00000161980	ENSG00000161980		"""RNA polymerase subunits"""	14121	protein-coding gene	gene with protein product		606007	"""polymerase (RNA) III (DNA directed) polypeptide K (12.3 kDa)"""			9869639, 10079944	Standard	NM_016310		Approved	RPC11	uc002cfi.2	Q9Y2Y1	OTTHUMG00000060722	ENST00000293860.5:c.98_100delACA	16.37:g.103490_103492delTGT	ENSP00000293860:p.Asn33del	585	Q1W6H4|Q96S35	In_Frame_Del	DEL	ENST00000293860.5	37	CCDS10395.1																																																																																				0.700	POLR3K-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134192.1		NM_016310	
PPP1R15B	84919	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	204380314	204380314	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr1:204380314C>A	ENST00000367188.4	-	1	605	c.226G>T	c.(226-228)Gga>Tga	p.G76*	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	76					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)	p.G76*(1)		breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			TGAAGCAATCCGGGGAGCGGC	0.567																																																	1	Substitution - Nonsense(1)	kidney(1)											65.0	71.0	69.0					1																	204380314		2203	4300	6503	SO:0001587	stop_gained	84919			AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14951	protein-coding gene	gene with protein product		613257	"""protein phosphatase 1, regulatory (inhibitor) subunit 15B"""			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.226G>T	1.37:g.204380314C>A	ENSP00000356156:p.Gly76*		Q53GQ4|Q658M2|Q6P156|Q96SN1	Nonsense_Mutation	SNP	ENST00000367188.4	37	CCDS1445.1	.	.	.	.	.	.	.	.	.	.	C	38	6.674616	0.97751	.	.	ENSG00000158615	ENST00000367188	.	.	.	5.22	-7.97	0.01139	.	0.877286	0.09617	N	0.778115	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	0.0014	17.8388	0.88709	0.0:0.796:0.0:0.204	.	.	.	.	X	76	.	ENSP00000356156:G76X	G	-	1	0	PPP1R15B	202646937	0.000000	0.05858	0.005000	0.12908	0.861000	0.49209	-1.307000	0.02733	-1.386000	0.02098	-0.768000	0.03414	GGA		0.567	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1		NM_032833	
PPP6R3	55291	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	68312471	68312471	+	Silent	SNP	T	T	C			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr11:68312471T>C	ENST00000393800.2	+	4	647	c.393T>C	c.(391-393)ctT>ctC	p.L131L	PPP6R3_ENST00000529710.1_Silent_p.L131L|PPP6R3_ENST00000265637.4_Silent_p.L131L|PPP6R3_ENST00000524845.1_Silent_p.L131L|PPP6R3_ENST00000393799.2_Silent_p.L131L|PPP6R3_ENST00000524904.1_Silent_p.L131L|PPP6R3_ENST00000527403.2_Silent_p.L131L|PPP6R3_ENST00000393801.3_Silent_p.L131L|PPP6R3_ENST00000534534.1_Silent_p.L40L|PPP6R3_ENST00000265636.5_Silent_p.L131L	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	131					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)	p.L131L(2)		breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TAAGTATTCTTATCAGCAGAA	0.393																																																	2	Substitution - coding silent(2)	kidney(2)											84.0	86.0	85.0					11																	68312471		2200	4294	6494	SO:0001819	synonymous_variant	55291			AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.393T>C	11.37:g.68312471T>C			Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Silent	SNP	ENST00000393800.2	37	CCDS53672.1																																																																																				0.393	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1		NM_018312	
PPP2R1B	5519	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	111624212	111624212	+	Silent	SNP	G	G	T			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr11:111624212G>T	ENST00000527614.1	-	9	1184	c.1119C>A	c.(1117-1119)acC>acA	p.T373T	PPP2R1B_ENST00000427203.2_Silent_p.T212T|PPP2R1B_ENST00000311129.5_Silent_p.T373T|PPP2R1B_ENST00000426998.2_Silent_p.T309T|PPP2R1B_ENST00000393055.2_Silent_p.T246T|PPP2R1B_ENST00000341980.6_Intron	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	373					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)		p.T373T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		GATGTTCAATGGTATTTTCTT	0.333																																																	1	Substitution - coding silent(1)	kidney(1)											95.0	90.0	92.0					11																	111624212		2201	4297	6498	SO:0001819	synonymous_variant	5519			AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9303	protein-coding gene	gene with protein product	"""PP2A-A-beta"", ""protein phosphatase 2A, regulatory subunit A, beta isoform"""	603113	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"""			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.1119C>A	11.37:g.111624212G>T			A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Silent	SNP	ENST00000527614.1	37	CCDS8349.1	.	.	.	.	.	.	.	.	.	.	G	8.539	0.872917	0.17322	.	.	ENSG00000137713	ENST00000531890	.	.	.	5.73	4.82	0.62117	.	.	.	.	.	T	0.58061	0.2096	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56541	-0.7962	4	.	.	.	-12.9089	7.4371	0.27162	0.084:0.0:0.7506:0.1654	.	.	.	.	N	74	.	.	H	-	1	0	PPP2R1B	111129422	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	0.991000	0.29654	1.423000	0.47198	0.655000	0.94253	CAT		0.333	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1		NM_002716	
PRIM2	5558	broad.mit.edu	37	6	57512916	57512917	+	3'UTR	INS	-	-	T	rs140176282|rs200683929|rs560402019	byFrequency	TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr6:57512916_57512917insT	ENST00000389488.2	+	0	1831_1832				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		ttttttttcaattttttttgta	0.53																																																	0																																										SO:0001624	3_prime_UTR_variant	5558				CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1829->T	6.37:g.57512924_57512924dupT			Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Splice_Site	INS	ENST00000389488.2	37																																																																																					0.530	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	protein_coding	OTTHUMT00000043468.3		NM_000947	
PRKD2	25865	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	47177845	47177845	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr19:47177845C>G	ENST00000291281.4	-	18	2797	c.2572G>C	c.(2572-2574)Ggt>Cgt	p.G858R	PRKD2_ENST00000433867.1_Missense_Mutation_p.G858R|PRKD2_ENST00000601806.1_Missense_Mutation_p.G701R|PRKD2_ENST00000595515.1_Missense_Mutation_p.G868R|PRKD2_ENST00000600194.1_Missense_Mutation_p.G701R|DACT3-AS1_ENST00000525352.1_RNA|DACT3-AS1_ENST00000525008.1_RNA			Q9BZL6	KPCD2_HUMAN	protein kinase D2	858					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|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 fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.G858R(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CAGGCCCCACCGAGATCCCTG	0.642																																																	1	Substitution - Missense(1)	kidney(1)											51.0	38.0	43.0					19																	47177845		2203	4300	6503	SO:0001583	missense	25865			AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.2572G>C	19.37:g.47177845C>G	ENSP00000291281:p.Gly858Arg		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000291281.4	37	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	C	9.984	1.228994	0.22542	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.64260	-0.09;-0.09	4.1	-0.487	0.12060	Protein kinase-like domain (1);	0.323500	0.19933	U	0.102807	T	0.37128	0.0992	N	0.11427	0.14	0.09310	N	1	B;B;B	0.27316	0.003;0.175;0.023	B;B;B	0.28011	0.005;0.085;0.012	T	0.23476	-1.0187	10	0.44086	T	0.13	-4.4641	7.3589	0.26735	0.0:0.6202:0.0:0.3798	.	868;343;858	E7ER94;A0JLT6;Q9BZL6	.;.;KPCD2_HUMAN	R	858	ENSP00000291281:G858R;ENSP00000393978:G858R	ENSP00000291281:G858R	G	-	1	0	PRKD2	51869685	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.064000	0.14437	-0.075000	0.12798	-0.794000	0.03295	GGT		0.642	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1		NM_016457	
PRPF8	10594	broad.mit.edu;ucsc.edu	37	17	1582621	1582621	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr17:1582621G>A	ENST00000572621.1	-	9	1638	c.1373C>T	c.(1372-1374)gCc>gTc	p.A458V	PRPF8_ENST00000304992.6_Missense_Mutation_p.A458V			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	458					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)	p.A458V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ATGCTTCAGGGCATTCAGCAC	0.537																																																	1	Substitution - Missense(1)	kidney(1)											78.0	84.0	82.0					17																	1582621		2203	4300	6503	SO:0001583	missense	10594			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.1373C>T	17.37:g.1582621G>A	ENSP00000460348:p.Ala458Val		O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	G	34	5.380448	0.95945	.	.	ENSG00000174231	ENST00000304992	T	0.80214	-1.35	5.96	5.96	0.96718	PROCN (1);	0.000000	0.85682	D	0.000000	T	0.81178	0.4768	L	0.53249	1.67	0.80722	D	1	B	0.19445	0.036	B	0.29077	0.098	T	0.75371	-0.3341	10	0.51188	T	0.08	-8.5153	20.4084	0.99013	0.0:0.0:1.0:0.0	.	458	Q6P2Q9	PRP8_HUMAN	V	458	ENSP00000304350:A458V	ENSP00000304350:A458V	A	-	2	0	PRPF8	1529371	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.835000	0.99442	2.833000	0.97629	0.650000	0.86243	GCC		0.537	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			
PTPRH	5794	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	55693237	55693237	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr19:55693237C>T	ENST00000376350.3	-	20	3255	c.3233G>A	c.(3232-3234)cGg>cAg	p.R1078Q	SYT5_ENST00000537500.1_5'Flank|SYT5_ENST00000590851.1_5'Flank|PTPRH_ENST00000263434.5_Missense_Mutation_p.R900Q|SYT5_ENST00000354308.3_5'Flank	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1078	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R1078Q(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TTGGAGGAACCGCAGGATGCA	0.627																																																	1	Substitution - Missense(1)	kidney(1)											126.0	117.0	120.0					19																	55693237		2203	4300	6503	SO:0001583	missense	5794				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.3233G>A	19.37:g.55693237C>T	ENSP00000365528:p.Arg1078Gln		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.930427	0.52866	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.11169	2.8;2.8	4.41	-0.422	0.12329	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.562481	0.13485	N	0.384369	T	0.04407	0.0121	N	0.11427	0.14	0.09310	N	1	P;P	0.50066	0.931;0.854	B;B	0.38921	0.285;0.138	T	0.44982	-0.9292	10	0.19590	T	0.45	.	8.6923	0.34273	0.0:0.4752:0.0:0.5248	.	900;1078	C9JCH2;Q9HD43	.;PTPRH_HUMAN	Q	1078;900	ENSP00000365528:R1078Q;ENSP00000263434:R900Q	ENSP00000263434:R900Q	R	-	2	0	PTPRH	60385049	0.007000	0.16637	0.008000	0.14137	0.934000	0.57294	0.670000	0.25157	-0.043000	0.13513	0.650000	0.86243	CGG		0.627	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			
RAD51	5888	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	40993342	40993342	+	Silent	SNP	A	A	T			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr15:40993342A>T	ENST00000267868.3	+	3	436	c.168A>T	c.(166-168)ccA>ccT	p.P56P	RAD51_ENST00000423169.2_Silent_p.P56P|RAD51_ENST00000382643.3_Silent_p.P56P|RAD51_ENST00000557850.1_Silent_p.P56P|RAD51_ENST00000532743.1_Silent_p.P56P	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN	RAD51 recombinase	56	HhH.				ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA unwinding involved in DNA replication (GO:0006268)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|mitotic recombination (GO:0006312)|positive regulation of DNA ligation (GO:0051106)|protein homooligomerization (GO:0051260)|reciprocal meiotic recombination (GO:0007131)|regulation of double-strand break repair via homologous recombination (GO:0010569)	condensed chromosome (GO:0000793)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|lateral element (GO:0000800)|mitochondrion (GO:0005739)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|PML body (GO:0016605)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA polymerase binding (GO:0070182)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|single-stranded DNA binding (GO:0003697)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.P56P(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		CCTATGCGCCAAAGAAGGAGC	0.408								Homologous recombination																																									1	Substitution - coding silent(1)	kidney(1)											113.0	118.0	116.0					15																	40993342		2203	4300	6503	SO:0001819	synonymous_variant	5888			D13804	CCDS10062.1, CCDS53931.1, CCDS53932.1	15q15.1	2014-06-12	2013-07-02		ENSG00000051180	ENSG00000051180			9817	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 5"""	179617	"""RAD51 (S. cerevisiae) homolog (E coli RecA homolog)"", ""RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)"", ""RAD51 homolog (S. cerevisiae)"""	RAD51A, RECA		8358431, 8479919	Standard	NM_002875		Approved	HsRad51, HsT16930, BRCC5	uc010bbx.3	Q06609	OTTHUMG00000130067	ENST00000267868.3:c.168A>T	15.37:g.40993342A>T			B0FXP0|B2R8T6|Q6FHX9|Q6ZNA8|Q9BV60	Silent	SNP	ENST00000267868.3	37	CCDS10062.1																																																																																				0.408	RAD51-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252358.1		NM_002875, NM_133487	
RBBP5	5929	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	205069187	205069187	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr1:205069187G>T	ENST00000264515.6	-	8	899	c.758C>A	c.(757-759)cCa>cAa	p.P253Q	RBBP5_ENST00000367164.1_Missense_Mutation_p.P253Q	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	253					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)	p.P253Q(1)		cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TTTCTTCCATGGGGTCCTAAA	0.488																																																	1	Substitution - Missense(1)	kidney(1)											88.0	86.0	87.0					1																	205069187		2203	4300	6503	SO:0001583	missense	5929			BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"""WD repeat domain containing"""	9888	protein-coding gene	gene with protein product	"""SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"""	600697	"""retinoblastoma-binding protein 5"""			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.758C>A	1.37:g.205069187G>T	ENSP00000264515:p.Pro253Gln		A8K272|Q7Z6D8|Q8NDZ7	Missense_Mutation	SNP	ENST00000264515.6	37	CCDS30983.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367513	0.61513	.	.	ENSG00000117222	ENST00000264515;ENST00000367164	T;T	0.24151	1.87;1.87	6.04	6.04	0.98038	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.16685	0.0401	N	0.11845	0.185	0.80722	D	1	B;B;B;B	0.21606	0.058;0.034;0.021;0.034	B;B;B;B	0.18871	0.023;0.01;0.008;0.013	T	0.12553	-1.0543	10	0.09843	T	0.71	.	20.1899	0.98228	0.0:0.0:1.0:0.0	.	126;288;253;253	B4DLF8;B4DMM7;Q15291-2;Q15291	.;.;.;RBBP5_HUMAN	Q	253	ENSP00000264515:P253Q;ENSP00000356132:P253Q	ENSP00000264515:P253Q	P	-	2	0	RBBP5	203335810	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.714000	0.98744	2.873000	0.98535	0.563000	0.77884	CCA		0.488	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090077.1		NM_005057	
RECQL5	9400	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	73624786	73624786	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr17:73624786T>A	ENST00000317905.5	-	17	2705	c.2546A>T	c.(2545-2547)gAc>gTc	p.D849V	RECQL5_ENST00000423245.2_Missense_Mutation_p.D822V|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	849					chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)	p.D822V(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CTTCCATGTGTCCTTTGCAGG	0.652								Other identified genes with known or suspected DNA repair function																																									1	Substitution - Missense(1)	kidney(1)											71.0	74.0	73.0					17																	73624786		2031	4184	6215	SO:0001583	missense	9400			AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.2546A>T	17.37:g.73624786T>A	ENSP00000317636:p.Asp849Val		Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	T	7.112	0.576213	0.13623	.	.	ENSG00000108469	ENST00000443199;ENST00000423245;ENST00000317905	T	0.57907	0.37	5.39	3.15	0.36227	.	0.799263	0.11012	N	0.609387	T	0.36082	0.0954	N	0.14661	0.345	0.80722	D	1	P;P;B	0.34909	0.475;0.475;0.378	B;B;B	0.35607	0.073;0.047;0.206	T	0.14952	-1.0454	10	0.59425	D	0.04	-13.1366	8.4867	0.33076	0.0:0.1661:0.0:0.8339	.	849;822;45	O94762;Q6P4G0;Q6FIC9	RECQ5_HUMAN;.;.	V	444;849;849	ENSP00000317636:D849V	ENSP00000317636:D849V	D	-	2	0	RECQL5	71136381	0.859000	0.29813	0.624000	0.29186	0.060000	0.15804	1.089000	0.30890	0.881000	0.35993	0.460000	0.39030	GAC		0.652	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1		NM_004259	
RGL1	23179	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	183835159	183835159	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr1:183835159A>G	ENST00000360851.3	+	4	555	c.377A>G	c.(376-378)gAa>gGa	p.E126G	RGL1_ENST00000536277.1_Missense_Mutation_p.E124G|RGL1_ENST00000539189.1_Missense_Mutation_p.E126G|RGL1_ENST00000304685.4_Missense_Mutation_p.E161G			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	126	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.E161G(1)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CCAAACTGTGAAGAAGATGGA	0.398																																																	1	Substitution - Missense(1)	kidney(1)											159.0	151.0	154.0					1																	183835159		2203	4300	6503	SO:0001583	missense	23179			AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.377A>G	1.37:g.183835159A>G	ENSP00000354097:p.Glu126Gly		Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	37		.	.	.	.	.	.	.	.	.	.	A	11.38	1.621235	0.28889	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000360851;ENST00000539189	T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42	5.1	5.1	0.69264	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.357359	0.29653	N	0.011543	T	0.48205	0.1487	L	0.55743	1.74	0.58432	D	0.999999	B;D;D;D	0.62365	0.0;0.991;0.991;0.991	B;D;D;D	0.74023	0.001;0.982;0.982;0.982	T	0.38478	-0.9659	10	0.38643	T	0.18	.	12.4099	0.55461	1.0:0.0:0.0:0.0	.	126;124;126;161	F5H6U6;B7Z2W5;Q9NZL6;Q5SXQ6	.;.;RGL1_HUMAN;.	G	161;161;124;126;126	ENSP00000303192:E161G;ENSP00000356501:E161G;ENSP00000438662:E124G;ENSP00000354097:E126G;ENSP00000437355:E126G	ENSP00000303192:E161G	E	+	2	0	RGL1	182101782	1.000000	0.71417	1.000000	0.80357	0.292000	0.27327	4.749000	0.62155	1.931000	0.55961	0.533000	0.62120	GAA		0.398	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1		NM_015149	
RICTOR	253260	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	38963027	38963027	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr5:38963027delT	ENST00000357387.3	-	17	1547	c.1517delA	c.(1516-1518)cagfs	p.Q506fs	RICTOR_ENST00000296782.5_Frame_Shift_Del_p.Q506fs	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					ATCCCGTTTCTGGTGTGTTGC	0.353																																																	0													166.0	155.0	159.0					5																	38963027		2203	4300	6503	SO:0001589	frameshift_variant	253260				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.1517delA	5.37:g.38963027delT	ENSP00000349959:p.Gln506fs			Frame_Shift_Del	DEL	ENST00000357387.3	37	CCDS34148.1																																																																																				0.353	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1		NM_152756	
RPS10P7	376693	broad.mit.edu	37	1	201489310	201489311	+	lincRNA	INS	-	-	T			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr1:201489310_201489311insT	ENST00000441932.1	+	0	1480_1481				RP11-134G8.7_ENST00000454651.1_RNA	NR_026667.1				ribosomal protein S10 pseudogene 7																		TGCGCCCAACCTTCGTGTCATG	0.51																																																	0																																												376693					1q32.1	2010-06-16				ENSG00000223396			36423	pseudogene	pseudogene						19123937	Standard	NR_026667		Approved		uc010ppt.3				1.37:g.201489312_201489312dupT				RNA	INS	ENST00000441932.1	37																																																																																					0.510	RPS10P7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000087024.1		NR_026667	
SAR1B	51128	broad.mit.edu;hgsc.bcm.edu	37	5	133944073	133944073	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr5:133944073T>A	ENST00000402673.2	-	6	747	c.469A>T	c.(469-471)Aca>Tca	p.T157S	SAR1B_ENST00000507419.1_Missense_Mutation_p.T89S|SAR1B_ENST00000439578.1_Missense_Mutation_p.T157S|SAR1B_ENST00000509937.1_Missense_Mutation_p.T89S|SAR1B_ENST00000502539.1_Missense_Mutation_p.T89S	NM_016103.3	NP_057187.1	Q9Y6B6	SAR1B_HUMAN	secretion associated, Ras related GTPase 1B	157					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)|GTP catabolic process (GO:0006184)|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)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)	p.T157S(1)		kidney(2)|lung(2)|urinary_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTTCCTGTTGTCTGACCATAT	0.358																																																	1	Substitution - Missense(1)	kidney(1)											80.0	69.0	73.0					5																	133944073		2200	4298	6498	SO:0001583	missense	51128			AF092130	CCDS4177.1	5q31.1	2014-03-07	2014-03-07	2005-10-21	ENSG00000152700	ENSG00000152700			10535	protein-coding gene	gene with protein product		607690	"""SAR1a gene homolog (S. cerevisiae) 2"", ""SAR1a gene homolog 2 (S. cerevisiae)"", ""SAR1 homolog B (S. cerevisiae)"""	SARA2			Standard	NM_001033503		Approved		uc003kzr.3	Q9Y6B6	OTTHUMG00000129114	ENST00000402673.2:c.469A>T	5.37:g.133944073T>A	ENSP00000385432:p.Thr157Ser		D3DQA4|Q567T4	Missense_Mutation	SNP	ENST00000402673.2	37	CCDS4177.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.084204	0.76642	.	.	ENSG00000152700	ENST00000394992;ENST00000402673;ENST00000507419;ENST00000502539;ENST00000439578;ENST00000509937;ENST00000509730;ENST00000505758	D;D;D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.86879	0.6039	M	0.88241	2.94	0.80722	D	1	B	0.15473	0.013	B	0.26864	0.074	D	0.85024	0.0913	10	0.54805	T	0.06	-27.7588	16.021	0.80493	0.0:0.0:0.0:1.0	.	157	Q9Y6B6	SAR1B_HUMAN	S	89;157;89;89;157;89;89;157	ENSP00000385432:T157S;ENSP00000425339:T89S;ENSP00000426335:T89S;ENSP00000404997:T157S;ENSP00000424673:T89S;ENSP00000423197:T89S;ENSP00000425466:T157S	ENSP00000378443:T89S	T	-	1	0	SAR1B	133971972	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.997000	0.88414	2.240000	0.73641	0.533000	0.62120	ACA		0.358	SAR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251158.2		NM_016103	
SHCBP1	79801	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	46652119	46652119	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr16:46652119delA	ENST00000303383.3	-	2	535	c.269delT	c.(268-270)ttafs	p.L90fs	SHCBP1_ENST00000564272.1_5'Flank	NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	90					fibroblast growth factor receptor signaling pathway (GO:0008543)|regulation of neural precursor cell proliferation (GO:2000177)					breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				CTACTCACCTAAAATGTAATC	0.413																																																	0													49.0	51.0	51.0					16																	46652119		2202	4299	6501	SO:0001589	frameshift_variant	79801			AK055931	CCDS10720.1	16q11	2008-02-05			ENSG00000171241	ENSG00000171241			29547	protein-coding gene	gene with protein product		611027				10086341	Standard	NM_024745		Approved	FLJ22009	uc002eec.4	Q8NEM2	OTTHUMG00000132540	ENST00000303383.3:c.269delT	16.37:g.46652119delA	ENSP00000306473:p.Leu90fs		Q96N60|Q9BVS0|Q9H6P6	Frame_Shift_Del	DEL	ENST00000303383.3	37	CCDS10720.1																																																																																				0.413	SHCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255740.1		NM_024745	
SHROOM1	134549	broad.mit.edu	37	5	132158730	132158730	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr5:132158730C>T	ENST00000378679.3	-	10	3121	c.2317G>A	c.(2317-2319)Gtg>Atg	p.V773M	SHROOM1_ENST00000319854.3_Missense_Mutation_p.V768M|SHROOM1_ENST00000378676.1_Missense_Mutation_p.V704M|SHROOM1_ENST00000488072.1_5'Flank	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	773	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)	p.V768M(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACCTCCCGCACGGCCCGCTCG	0.721																																																	1	Substitution - Missense(1)	kidney(1)											17.0	17.0	17.0					5																	132158730		2197	4294	6491	SO:0001583	missense	134549			AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.2317G>A	5.37:g.132158730C>T	ENSP00000367950:p.Val773Met		B7WP40|B7ZL01|Q8TDP0|Q8TF41	Missense_Mutation	SNP	ENST00000378679.3	37	CCDS54902.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.373239	0.24857	.	.	ENSG00000164403	ENST00000378679;ENST00000319854;ENST00000378676	T;T;T	0.50277	0.75;0.75;0.75	4.92	2.97	0.34412	Apx/shroom, ASD2 (2);	0.343628	0.25288	N	0.031754	T	0.52338	0.1728	M	0.68317	2.08	0.45366	D	0.99835	D;D	0.60575	0.985;0.988	B;P	0.47786	0.421;0.557	T	0.61797	-0.6989	10	0.56958	D	0.05	-9.4647	14.2984	0.66329	0.0:0.3883:0.6117:0.0	.	768;773	Q2M3G4-2;Q2M3G4	.;SHRM1_HUMAN	M	773;768;704	ENSP00000367950:V773M;ENSP00000324245:V768M;ENSP00000367947:V704M	ENSP00000324245:V768M	V	-	1	0	SHROOM1	132186629	0.169000	0.23002	0.881000	0.34555	0.074000	0.17049	0.910000	0.28571	1.383000	0.46405	-0.165000	0.13383	GTG		0.721	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1		NM_133456	
SLC11A2	4891	hgsc.bcm.edu;ucsc.edu	37	12	51384633	51384636	+	Frame_Shift_Del	DEL	AATG	AATG	-			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	AATG	AATG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr12:51384633_51384636delAATG	ENST00000262051.7	-	15	1604_1607	c.1517_1520delCATT	c.(1516-1521)gcattafs	p.AL506fs	SLC11A2_ENST00000546743.1_Frame_Shift_Del_p.AL427fs|SLC11A2_ENST00000545993.2_Frame_Shift_Del_p.AL502fs|SLC11A2_ENST00000541174.2_Frame_Shift_Del_p.AL506fs|SLC11A2_ENST00000547198.1_Frame_Shift_Del_p.AL506fs|SLC11A2_ENST00000547688.1_Frame_Shift_Del_p.AL535fs|SLC11A2_ENST00000394904.3_Frame_Shift_Del_p.AL535fs|SLC11A2_ENST00000262052.5_Frame_Shift_Del_p.AL506fs	NM_001174126.1|NM_001174127.1	NP_001167597.1|NP_001167598.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	506					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cadmium ion transmembrane transport (GO:0070574)|cation transmembrane transport (GO:0098655)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to iron ion (GO:0071281)|cellular response to oxidative stress (GO:0034599)|cellular response to tumor necrosis factor (GO:0071356)|cobalt ion transport (GO:0006824)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detection of oxygen (GO:0003032)|erythrocyte development (GO:0048821)|ferrous iron import (GO:0070627)|ferrous iron transport (GO:0015684)|heme biosynthetic process (GO:0006783)|lead ion transport (GO:0015692)|learning or memory (GO:0007611)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organismal iron ion homeostasis (GO:0060586)|nickel cation transmembrane transport (GO:0035444)|nickel cation transport (GO:0015675)|response to cadmium ion (GO:0046686)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to manganese ion (GO:0010042)|transmembrane transport (GO:0055085)|vanadium ion transport (GO:0015676)|zinc ion transmembrane transport (GO:0071577)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|brush border (GO:0005903)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|paraferritin complex (GO:0070826)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	cadmium ion binding (GO:0046870)|cadmium ion transmembrane transporter activity (GO:0015086)|cobalt ion binding (GO:0050897)|cobalt ion transmembrane transporter activity (GO:0015087)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|ferrous iron transmembrane transporter activity (GO:0015093)|hydrogen ion transmembrane transporter activity (GO:0015078)|inorganic cation transmembrane transporter activity (GO:0022890)|iron ion binding (GO:0005506)|lead ion transmembrane transporter activity (GO:0015094)|manganese ion binding (GO:0030145)|manganese ion transmembrane transporter activity (GO:0005384)|nickel cation binding (GO:0016151)|nickel cation transmembrane transporter activity (GO:0015099)|solute:proton symporter activity (GO:0015295)|vanadium ion transmembrane transporter activity (GO:0015100)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						CACCACATATAATGCCACATGCCC	0.495																																																	0																																										SO:0001589	frameshift_variant	4891			AB015355	CCDS8805.1, CCDS53791.1, CCDS53792.1, CCDS53793.1	12q13	2013-07-18	2013-07-18		ENSG00000110911	ENSG00000110911		"""Solute carriers"""	10908	protein-coding gene	gene with protein product		600523		NRAMP2		7613023	Standard	NM_000617		Approved	DCT1, DMT1	uc001rxk.2	P49281	OTTHUMG00000169493	ENST00000262051.7:c.1517_1520delCATT	12.37:g.51384633_51384636delAATG	ENSP00000262051:p.Ala506fs		B3KT08|B4DK84|F5H741|O43288|O60932|O94801|Q498Z5|Q8IUD7|Q96J35	Frame_Shift_Del	DEL	ENST00000262051.7	37	CCDS53792.1																																																																																				0.495	SLC11A2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404383.1			
SMYD2	56950	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	214510074	214510074	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr1:214510074G>A	ENST00000366957.5	+	12	1271	c.1249G>A	c.(1249-1251)Ggc>Agc	p.G417S	SMYD2_ENST00000491455.1_3'UTR|SMYD2_ENST00000415093.2_3'UTR	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	417					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|RNA polymerase II core binding (GO:0000993)	p.G417S(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		AGTAGCTCACGGCAAAGATCA	0.403																																																	2	Substitution - Missense(2)	lung(1)|kidney(1)											111.0	103.0	105.0					1																	214510074		2203	4300	6503	SO:0001583	missense	56950			AF226053	CCDS31022.1	1q32.3	2011-07-01			ENSG00000143499	ENSG00000143499		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20982	protein-coding gene	gene with protein product		610663					Standard	NM_020197		Approved	HSKM-B, ZMYND14, KMT3C	uc021pix.1	Q9NRG4	OTTHUMG00000037066	ENST00000366957.5:c.1249G>A	1.37:g.214510074G>A	ENSP00000355924:p.Gly417Ser		B2R9P9|I6L9H7|Q4V765|Q5VSH9|Q96AI4	Missense_Mutation	SNP	ENST00000366957.5	37	CCDS31022.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716833	0.89205	.	.	ENSG00000143499	ENST00000366957	T	0.44482	0.92	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.67646	0.2915	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68428	-0.5411	10	0.66056	D	0.02	-21.8132	20.093	0.97828	0.0:0.0:1.0:0.0	.	417	Q9NRG4	SMYD2_HUMAN	S	417	ENSP00000355924:G417S	ENSP00000355924:G417S	G	+	1	0	SMYD2	212576697	1.000000	0.71417	0.997000	0.53966	0.363000	0.29612	9.621000	0.98376	2.756000	0.94617	0.561000	0.74099	GGC		0.403	SMYD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089998.1		NM_020197	
SNED1	25992	broad.mit.edu	37	2	241991198	241991199	+	Frame_Shift_Ins	INS	-	-	G	rs138612536	byFrequency	TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr2:241991198_241991199insG	ENST00000310397.8	+	13	1773_1774	c.1773_1774insG	c.(1774-1776)gggfs	p.G592fs	SNED1_ENST00000342631.6_Frame_Shift_Ins_p.G592fs|SNED1_ENST00000401884.1_Frame_Shift_Ins_p.G592fs|SNED1_ENST00000405547.3_Frame_Shift_Ins_p.G592fs|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000469006.1_3'UTR	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	592	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CCTGCCGGAACGGGGGCACGTG	0.693																																																	0																																										SO:0001589	frameshift_variant	25992			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.1778dupG	2.37:g.241991203_241991203dupG	ENSP00000308893:p.Gly592fs		B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Frame_Shift_Ins	INS	ENST00000310397.8	37	CCDS46562.1																																																																																				0.693	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2		XM_059482	
GABBR1	2550	broad.mit.edu;hgsc.bcm.edu	37	6	29550080	29550080	+	Intron	SNP	G	G	A			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr6:29550080G>A	ENST00000355973.3	-	18	2784				SNORD32B_ENST00000364460.1_RNA			Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1						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)	ATGGCCATGAGACCAACCCCA	0.418																																																	0													59.0	55.0	56.0					6																	29550080		876	1991	2867	SO:0001627	intron_variant	692092			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	ENST00000355973.3:c.2532+21237C>T	6.37:g.29550080G>A			B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	RNA	SNP	ENST00000355973.3	37	CCDS4665.1																																																																																				0.418	GABBR1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194822.3			
CAPN15	6650	hgsc.bcm.edu	37	16	601338	601338	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr16:601338G>A	ENST00000219611.2	+	8	2466	c.2103G>A	c.(2101-2103)atG>atA	p.M701I	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	701	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GGGGCAACATGAAGGTGGACG	0.687																																																	0													43.0	52.0	49.0					16																	601338		2198	4298	6496	SO:0001583	missense	6650			U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"""small optic lobes (Drosophila) homolog"", ""small optic lobes homolog (Drosophila)"""	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.2103G>A	16.37:g.601338G>A	ENSP00000219611:p.Met701Ile		B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	ENST00000219611.2	37	CCDS10410.1	.	.	.	.	.	.	.	.	.	.	g	25.9	4.687381	0.88639	.	.	ENSG00000103326	ENST00000219611	D	0.87256	-2.23	5.36	5.36	0.76844	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.92130	0.7505	L	0.58428	1.81	0.80722	D	1	D	0.60575	0.988	D	0.75020	0.985	D	0.92396	0.5925	10	0.59425	D	0.04	.	17.6567	0.88180	0.0:0.0:1.0:0.0	.	701	O75808	CAN15_HUMAN	I	701	ENSP00000219611:M701I	ENSP00000219611:M701I	M	+	3	0	SOLH	541339	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	9.816000	0.99350	2.509000	0.84616	0.556000	0.70494	ATG		0.687	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1		NM_005632	
SPG7	6687	hgsc.bcm.edu;ucsc.edu	37	16	89616935	89616935	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr16:89616935delA	ENST00000268704.2	+	13	1712	c.1697delA	c.(1696-1698)gaafs	p.E567fs		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	567					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CTGTCCAAGGAAGAACAGAAA	0.592																																																	0													115.0	106.0	109.0					16																	89616935		2198	4300	6498	SO:0001589	frameshift_variant	6687			Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1697delA	16.37:g.89616935delA	ENSP00000268704:p.Glu567fs		O75756|Q2TB70|Q58F00|Q96IB0	Frame_Shift_Del	DEL	ENST00000268704.2	37	CCDS10977.1																																																																																				0.592	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2		NM_003119	
STK11	6794	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	1220429	1220429	+	Silent	SNP	C	C	T			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr19:1220429C>T	ENST00000326873.7	+	4	1695	c.522C>T	c.(520-522)caC>caT	p.H174H		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	174	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		H -> R (in sporadic cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39).		activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.Y156fs*87(4)|p.?(4)|p.H174H(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GCATTGTGCACAAGGACATCA	0.652		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"""E, M, O"""	29	Whole gene deletion(20)|Unknown(4)|Deletion - Frameshift(4)|Substitution - coding silent(1)	cervix(15)|lung(9)|kidney(2)|oesophagus(1)|ovary(1)|pancreas(1)											44.0	52.0	49.0					19																	1220429		2102	4244	6346	SO:0001819	synonymous_variant	6794	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.522C>T	19.37:g.1220429C>T			B2RBX7|E7EW76	Silent	SNP	ENST00000326873.7	37	CCDS45896.1																																																																																				0.652	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3		NM_000455	
SULF1	23213	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	70512843	70512843	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr8:70512843C>G	ENST00000260128.4	+	9	1457	c.740C>G	c.(739-741)cCt>cGt	p.P247R	SULF1_ENST00000458141.2_Missense_Mutation_p.P247R|SULF1_ENST00000419716.3_Missense_Mutation_p.P247R|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.P247R	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	247					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.P247R(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTCAGAACTCCTAGTTATAAC	0.348																																																	1	Substitution - Missense(1)	kidney(1)											84.0	86.0	85.0					8																	70512843		2203	4300	6503	SO:0001583	missense	23213			AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.740C>G	8.37:g.70512843C>G	ENSP00000260128:p.Pro247Arg		Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.648668	0.87958	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.98437	-4.93;-4.93;-4.93;-4.93	6.02	6.02	0.97574	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98820	0.9602	M	0.85299	2.745	0.80722	D	1	P	0.46064	0.872	P	0.54499	0.754	D	0.99391	1.0925	10	0.72032	D	0.01	.	20.547	0.99278	0.0:1.0:0.0:0.0	.	247	Q8IWU6	SULF1_HUMAN	R	247	ENSP00000403040:P247R;ENSP00000260128:P247R;ENSP00000385704:P247R;ENSP00000390315:P247R	ENSP00000260128:P247R	P	+	2	0	SULF1	70675397	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.850000	0.98022	0.650000	0.86243	CCT		0.348	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2		NM_015170	
TELO2	9894	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	1552946	1552946	+	Silent	SNP	G	G	T			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr16:1552946G>T	ENST00000262319.6	+	15	2064	c.1785G>T	c.(1783-1785)ctG>ctT	p.L595L	TELO2_ENST00000564507.1_3'UTR	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	595					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)	p.L595L(1)		NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CCGACTATCTGACCTCACAGT	0.657																																																	1	Substitution - coding silent(1)	kidney(1)											152.0	142.0	145.0					16																	1552946		2199	4300	6499	SO:0001819	synonymous_variant	9894			AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"""TEL2, telomere maintenance 2, homolog (S. cerevisiae)"""			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.1785G>T	16.37:g.1552946G>T			D3DU73|O75168|Q7LDV4|Q9BR21	Silent	SNP	ENST00000262319.6	37	CCDS32363.1																																																																																				0.657	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2		NM_016111	
THEMIS	387357	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	128150971	128150971	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr6:128150971T>C	ENST00000368248.2	-	3	507	c.359A>G	c.(358-360)cAg>cGg	p.Q120R	THEMIS_ENST00000368250.1_Missense_Mutation_p.Q41R|THEMIS_ENST00000537166.1_Missense_Mutation_p.Q85R|THEMIS_ENST00000543064.1_Missense_Mutation_p.Q120R	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	120	CABIT 1.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Q120R(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TATATCCTTCTGATGATAGAA	0.398																																																	1	Substitution - Missense(1)	kidney(1)											99.0	98.0	99.0					6																	128150971		2203	4300	6503	SO:0001583	missense	387357			AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.359A>G	6.37:g.128150971T>C	ENSP00000357231:p.Gln120Arg		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	T	8.419	0.845966	0.16963	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.12879	2.64;2.64;2.64;2.64	6.14	2.31	0.28768	.	0.553031	0.17310	N	0.178933	T	0.02571	0.0078	L	0.44542	1.39	0.21256	N	0.999745	B;B	0.17852	0.024;0.003	B;B	0.11329	0.006;0.005	T	0.46775	-0.9167	10	0.19147	T	0.46	-2.1069	2.1971	0.03914	0.2117:0.0727:0.236:0.4796	.	120;120	F5H1J9;Q8N1K5	.;THMS1_HUMAN	R	41;120;120;85	ENSP00000357233:Q41R;ENSP00000439594:Q120R;ENSP00000357231:Q120R;ENSP00000439863:Q85R	ENSP00000357231:Q120R	Q	-	2	0	THEMIS	128192664	0.833000	0.29383	0.999000	0.59377	0.997000	0.91878	0.660000	0.25009	0.157000	0.19338	0.529000	0.55759	CAG		0.398	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding			NM_001010923	
TJP1	7082	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	30012148	30012148	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr15:30012148T>A	ENST00000346128.6	-	20	3310	c.2836A>T	c.(2836-2838)Aat>Tat	p.N946Y	TJP1_ENST00000356107.6_Missense_Mutation_p.N946Y|TJP1_ENST00000545208.2_Intron|TJP1_ENST00000400011.2_Intron	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	946					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.N946Y(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		ACATTATGATTAACAGCAGAG	0.408																																					Melanoma(77;681 1843 6309 6570)												1	Substitution - Missense(1)	kidney(1)											129.0	122.0	124.0					15																	30012148		1876	4108	5984	SO:0001583	missense	7082				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.2836A>T	15.37:g.30012148T>A	ENSP00000281537:p.Asn946Tyr		B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	T	14.58	2.578473	0.46006	.	.	ENSG00000104067	ENST00000346128;ENST00000545208	T	0.06687	3.27	6.17	3.88	0.44766	.	0.384817	0.32386	N	0.006172	T	0.09992	0.0245	L	0.51422	1.61	0.80722	D	1	B;B	0.29805	0.257;0.257	B;B	0.32289	0.143;0.1	T	0.06180	-1.0841	10	0.66056	D	0.02	.	9.8504	0.41053	0.0:0.1369:0.0:0.8631	.	939;946	A9CQZ8;Q07157	.;ZO1_HUMAN	Y	946	ENSP00000281537:N946Y	ENSP00000281537:N946Y	N	-	1	0	TJP1	27799440	1.000000	0.71417	0.498000	0.27564	0.987000	0.75469	1.816000	0.38992	0.568000	0.29311	0.533000	0.62120	AAT		0.408	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3		NM_003257	
TPO	7173	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	1440117	1440117	+	Missense_Mutation	SNP	C	C	A	rs138509145		TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr2:1440117C>A	ENST00000345913.4	+	5	534	c.443C>A	c.(442-444)gCg>gAg	p.A148E	TPO_ENST00000337415.3_Missense_Mutation_p.A148E|TPO_ENST00000382201.3_Missense_Mutation_p.A148E|TPO_ENST00000539820.1_Missense_Mutation_p.A148E|TPO_ENST00000382269.3_Missense_Mutation_p.A148E|TPO_ENST00000346956.3_Missense_Mutation_p.A148E|TPO_ENST00000329066.4_Missense_Mutation_p.A148E|TPO_ENST00000382198.1_Missense_Mutation_p.A148E|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.A148E	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	148					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.A148E(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACTTGCCTGGCGAACAAATAC	0.443																																																	1	Substitution - Missense(1)	kidney(1)											132.0	127.0	129.0					2																	1440117		2203	4300	6503	SO:0001583	missense	7173				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.443C>A	2.37:g.1440117C>A	ENSP00000318820:p.Ala148Glu		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.729524	0.30684	.	.	ENSG00000115705	ENST00000382269;ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000539820;ENST00000329066;ENST00000382201;ENST00000423320;ENST00000382198;ENST00000422464	T;T;T;T;T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41	5.14	3.33	0.38152	.	0.506549	0.22588	N	0.058121	T	0.67268	0.2875	M	0.75447	2.3	0.26071	N	0.981223	D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;0.999	D;D;D;D;D	0.87578	0.987;0.955;0.998;0.987;0.961	T	0.57418	-0.7815	10	0.30078	T	0.28	-13.8607	9.033	0.36271	0.0:0.8241:0.0:0.1759	.	148;148;148;148;148	P07202-4;P07202-5;E9PFM6;P07202-2;P07202	.;.;.;.;PERT_HUMAN	E	148;148;148;148;148;148;148;148;148;148;77	ENSP00000371704:A148E;ENSP00000337263:A148E;ENSP00000318820:A148E;ENSP00000263886:A148E;ENSP00000332044:A148E;ENSP00000444840:A148E;ENSP00000329869:A148E;ENSP00000371636:A148E;ENSP00000390994:A148E;ENSP00000371633:A148E;ENSP00000405788:A77E	ENSP00000329869:A148E	A	+	2	0	TPO	1419124	0.870000	0.30015	0.536000	0.28039	0.033000	0.12548	1.478000	0.35442	0.560000	0.29169	0.313000	0.20887	GCG		0.443	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2		NM_000547	
TRAPPC8	22878	hgsc.bcm.edu;ucsc.edu	37	18	29444658	29444658	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr18:29444658delT	ENST00000283351.4	-	19	3012	c.2677delA	c.(2677-2679)acafs	p.T893fs	TRAPPC8_ENST00000582539.1_Frame_Shift_Del_p.T839fs	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	893					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTAACAGATGTTTTCTCTTCT	0.358																																																	0													126.0	119.0	121.0					18																	29444658		2203	4300	6503	SO:0001589	frameshift_variant	22878			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.2677delA	18.37:g.29444658delT	ENSP00000283351:p.Thr893fs		A0JP15|B3KME5|Q9H0L2	Frame_Shift_Del	DEL	ENST00000283351.4	37	CCDS11901.1																																																																																				0.358	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1		NM_014939	
UBN1	29855	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	4903144	4903144	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr16:4903144A>C	ENST00000396658.4	+	1	929	c.226A>C	c.(226-228)Aaa>Caa	p.K76Q	UBN1_ENST00000590769.1_Missense_Mutation_p.K76Q|UBN1_ENST00000262376.6_Missense_Mutation_p.K76Q|UBN1_ENST00000545171.1_Missense_Mutation_p.K76Q	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	76	Sufficient for interaction with HIRA.				chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K76Q(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						AGGGAAGGTAAAAGGCCTTCA	0.537																																																	1	Substitution - Missense(1)	kidney(1)											72.0	71.0	72.0					16																	4903144		2197	4300	6497	SO:0001583	missense	29855			AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.226A>C	16.37:g.4903144A>C	ENSP00000379894:p.Lys76Gln		B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.109393	0.77096	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.50548	1.33;0.74;1.33	5.98	5.98	0.97165	.	0.352689	0.33401	N	0.004951	T	0.63319	0.2501	M	0.72479	2.2	0.42316	D	0.992239	D;D	0.59767	0.986;0.976	P;P	0.55391	0.775;0.601	T	0.67829	-0.5569	10	0.72032	D	0.01	-6.8587	16.4696	0.84102	1.0:0.0:0.0:0.0	.	76;76	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	Q	76	ENSP00000262376:K76Q;ENSP00000442379:K76Q;ENSP00000379894:K76Q	ENSP00000262376:K76Q	K	+	1	0	UBN1	4843145	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	6.031000	0.70911	2.289000	0.77006	0.482000	0.46254	AAA		0.537	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1		NM_016936	
ZNF730	100129543	broad.mit.edu	37	19	23329223	23329223	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr19:23329223A>T	ENST00000597761.2	+	4	1576	c.1377A>T	c.(1375-1377)aaA>aaT	p.K459N		NM_001277403.1	NP_001264332.1	Q6ZMV8	ZN730_HUMAN	zinc finger protein 730	459					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K459N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						AATGTGGCAAAGCTTTTAACC	0.398																																																	1	Substitution - Missense(1)	kidney(1)																																								SO:0001583	missense	0			AK131472	CCDS59371.1	19p12	2013-01-08			ENSG00000183850	ENSG00000183850		"""Zinc fingers, C2H2-type"", ""-"""	32470	protein-coding gene	gene with protein product							Standard	NM_001277403		Approved		uc031rkc.1	Q6ZMV8		ENST00000597761.2:c.1377A>T	19.37:g.23329223A>T	ENSP00000472959:p.Lys459Asn			RNA	SNP	ENST00000597761.2	37	CCDS59371.1	.	.	.	.	.	.	.	.	.	.	A	13.18	2.159814	0.38119	.	.	ENSG00000183850	ENST00000327867	.	.	.	0.819	-0.498	0.12019	.	.	.	.	.	T	0.62319	0.2418	M	0.93062	3.375	0.21933	N	0.999463	.	.	.	.	.	.	T	0.56679	-0.7939	6	0.72032	D	0.01	.	4.1692	0.10322	0.5485:0.0:0.4515:0.0	.	.	.	.	N	459	.	ENSP00000329365:K459N	K	+	3	2	ZNF730	23121063	0.889000	0.30405	0.120000	0.21714	0.121000	0.20230	1.210000	0.32370	0.243000	0.21327	0.240000	0.17902	AAA		0.398	ZNF730-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465737.2		XM_001719792	
USPL1	10208	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	31232080	31232081	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr13:31232080_31232081delCA	ENST00000255304.4	+	9	2208_2209	c.1866_1867delCA	c.(1864-1869)accaatfs	p.N623fs		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	623					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		TTCTCAAAACCAATACTTTGCT	0.347																																					Ovarian(60;318 1180 1554 28110 31601)												0																																										SO:0001589	frameshift_variant	10208			X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.1866_1867delCA	13.37:g.31232080_31232081delCA	ENSP00000255304:p.Asn623fs		Q14109|Q6AI45|Q8IY30|Q8IYE8	Frame_Shift_Del	DEL	ENST00000255304.4	37	CCDS9336.1																																																																																				0.347	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1		NM_005800	
VCPIP1	80124	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	67578932	67578933	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr8:67578932_67578933CC>AG	ENST00000310421.4	-	1	519_520	c.261_262GG>CT	c.(259-264)gaGGtg>gaCTtg	p.87_88EV>DL	C8orf44_ENST00000519561.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	87					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)	p.E87D(1)|p.E87_V88>DL(1)|p.V88L(1)		breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			GGGTCGGTCACCTCCTCAACCC	0.624																																					NSCLC(179;265 2915 6144 43644)												3	Substitution - Missense(2)|Complex - compound substitution(1)	kidney(3)																																								SO:0001583	missense	80124			AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.261_262delinsAG	8.37:g.67578932_67578933delinsAG	ENSP00000309031:p.E87_V88delinsDL		Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	CCDS6192.1																																																																																				0.624	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			
VPS13B	157680	broad.mit.edu;hgsc.bcm.edu	37	8	100847774	100847774	+	Silent	SNP	A	A	G			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr8:100847774A>G	ENST00000358544.2	+	54	9936	c.9825A>G	c.(9823-9825)ccA>ccG	p.P3275P	VPS13B_ENST00000357162.2_Silent_p.P3250P|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3275					protein transport (GO:0015031)			p.P3250P(1)|p.P3275P(1)		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)			CAGATATTCCAAAGTTTGAGG	0.373																																					Colon(161;2205 2542 7338 31318)												2	Substitution - coding silent(2)	kidney(2)											45.0	49.0	48.0					8																	100847774		2203	4300	6503	SO:0001819	synonymous_variant	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.9825A>G	8.37:g.100847774A>G			C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	CCDS6280.1																																																																																				0.373	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1		NM_184042	
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																																	10	Substitution - Missense(10)	kidney(7)|prostate(2)|endometrium(1)																																										374666					15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A				Missense_Mutation	SNP	ENST00000557932.1	37		.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1		NM_199163	
WDR25	79446	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	100847489	100847489	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr14:100847489T>A	ENST00000335290.6	+	2	454	c.228T>A	c.(226-228)taT>taA	p.Y76*	WDR25_ENST00000402312.3_Nonsense_Mutation_p.Y76*|WDR25_ENST00000542471.2_5'Flank|WDR25_ENST00000554998.1_Nonsense_Mutation_p.Y76*|WDR25_ENST00000554175.1_Nonsense_Mutation_p.Y76*	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	76								p.Y76*(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				CAGGGGGCTATCGCCTTCCAT	0.597																																																	1	Substitution - Nonsense(1)	kidney(1)											47.0	47.0	47.0					14																	100847489		2203	4300	6503	SO:0001587	stop_gained	79446			BC007953	CCDS32157.1	14q32.32	2013-01-09				ENSG00000176473		"""WD repeat domain containing"""	21064	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 67"""	C14orf67		15587985	Standard	NM_001161476		Approved	MGC4645	uc001yhn.3	Q64LD2		ENST00000335290.6:c.228T>A	14.37:g.100847489T>A	ENSP00000334148:p.Tyr76*		A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	Nonsense_Mutation	SNP	ENST00000335290.6	37	CCDS32157.1	.	.	.	.	.	.	.	.	.	.	T	32	5.144855	0.94603	.	.	ENSG00000176473	ENST00000554998;ENST00000402312;ENST00000335290;ENST00000554175	.	.	.	5.53	-9.84	0.00479	.	2.387120	0.01190	N	0.007304	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	3.366	5.1522	0.15015	0.0932:0.2327:0.517:0.157	.	.	.	.	X	76	.	ENSP00000334148:Y76X	Y	+	3	2	WDR25	99917242	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-1.350000	0.02624	-1.486000	0.01851	0.533000	0.62120	TAT		0.597	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414312.1		NM_024515	
WDR33	55339	hgsc.bcm.edu;ucsc.edu	37	2	128481936	128481937	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr2:128481936_128481937insAT	ENST00000322313.4	-	11	1324_1325	c.1166_1167insAT	c.(1165-1167)attfs	p.I389fs		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	389					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CTGAGCAGAGAATATGCCCAAG	0.431																																																	0																																										SO:0001589	frameshift_variant	55339				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.1165_1166dupAT	2.37:g.128481939_128481940dupAT	ENSP00000325377:p.Ile389fs		Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Frame_Shift_Ins	INS	ENST00000322313.4	37	CCDS2150.1																																																																																				0.431	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2		NM_018383	
ZBTB49	166793	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	4304210	4304210	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr4:4304210T>G	ENST00000337872.4	+	3	768	c.647T>G	c.(646-648)cTc>cGc	p.L216R	ZBTB49_ENST00000538529.1_5'UTR|ZBTB49_ENST00000355834.3_Missense_Mutation_p.L216R	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	216					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L216R(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						TATTACAAACTCAGAAACTTT	0.453																																																	1	Substitution - Missense(1)	kidney(1)											53.0	53.0	53.0					4																	4304210		2203	4300	6503	SO:0001583	missense	166793			AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19883	protein-coding gene	gene with protein product			"""zinc finger protein 509"""	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.647T>G	4.37:g.4304210T>G	ENSP00000338807:p.Leu216Arg		Q59FJ4|Q5EBN0|Q8TB80	Missense_Mutation	SNP	ENST00000337872.4	37	CCDS3375.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.274721	0.80580	.	.	ENSG00000168826	ENST00000355834;ENST00000337872	T;T	0.34072	1.38;2.53	5.63	5.63	0.86233	.	0.000000	0.49916	D	0.000134	T	0.62575	0.2439	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67185	-0.5734	10	0.87932	D	0	.	16.1277	0.81406	0.0:0.0:0.0:1.0	.	216	Q6ZSB9	ZBT49_HUMAN	R	216	ENSP00000348091:L216R;ENSP00000338807:L216R	ENSP00000338807:L216R	L	+	2	0	ZBTB49	4355111	1.000000	0.71417	0.892000	0.35008	0.992000	0.81027	5.857000	0.69525	2.273000	0.75805	0.482000	0.46254	CTC		0.453	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3		NM_145291	
ZNF816	125893	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	53453353	53453353	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr19:53453353G>A	ENST00000357666.4	-	5	1975	c.1675C>T	c.(1675-1677)Cat>Tat	p.H559Y	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.H559Y	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	559					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H559Y(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TCTCCAGTATGAACTCTCGTA	0.393																																																	1	Substitution - Missense(1)	kidney(1)											74.0	76.0	75.0					19																	53453353		2203	4299	6502	SO:0001583	missense	125893			BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.1675C>T	19.37:g.53453353G>A	ENSP00000350295:p.His559Tyr		A8K7H5|Q3KR39|Q659B3	Missense_Mutation	SNP	ENST00000357666.4	37	CCDS33096.1	.	.	.	.	.	.	.	.	.	.	-	11.83	1.754206	0.31046	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	T;T	0.67523	-0.27;-0.27	1.75	0.534	0.17127	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83394	0.5245	H	0.94734	3.575	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.82404	-0.0474	9	0.87932	D	0	.	8.5915	0.33690	0.0:0.2416:0.7584:0.0	.	559	Q0VGE8	ZN816_HUMAN	Y	559	ENSP00000350295:H559Y;ENSP00000403266:H559Y	ENSP00000350295:H559Y	H	-	1	0	ZNF816	58145165	0.939000	0.31865	0.138000	0.22173	0.361000	0.29550	3.396000	0.52565	0.044000	0.15775	0.194000	0.17425	CAT		0.393	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1		NM_001031665	
ZNF805	390980	broad.mit.edu;ucsc.edu	37	19	57765250	57765250	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B0-5119-01A-02D-1421-08	TCGA-B0-5119-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	414d47c7-41bb-4c83-8cdf-703fa0a46f01	82a1cf74-7f66-443b-8e5b-e72fdd121c94	g.chr19:57765250A>T	ENST00000414468.2	+	4	1063	c.1063A>T	c.(1063-1065)Aga>Tga	p.R355*	ZNF805_ENST00000354309.4_Nonsense_Mutation_p.R222*|ZNF805_ENST00000535550.1_Nonsense_Mutation_p.R222*	NM_001023563.3	NP_001018857.2	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	355					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R355*(1)		breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						CTTCAAACACAGATCATACCT	0.512																																																	1	Substitution - Nonsense(1)	kidney(1)											75.0	73.0	74.0					19																	57765250		692	1591	2283	SO:0001587	stop_gained	390980			AF024708	CCDS46207.1, CCDS46208.1	19q13.43	2013-01-08			ENSG00000204524	ENSG00000204524		"""Zinc fingers, C2H2-type"", ""-"""	23272	protein-coding gene	gene with protein product							Standard	NM_001023563		Approved		uc010ygt.2	Q5CZA5		ENST00000414468.2:c.1063A>T	19.37:g.57765250A>T	ENSP00000412999:p.Arg355*		B4DNM5	Nonsense_Mutation	SNP	ENST00000414468.2	37	CCDS46207.1	.	.	.	.	.	.	.	.	.	.	A	37	6.103573	0.97286	.	.	ENSG00000204524	ENST00000535550;ENST00000414468;ENST00000354309	.	.	.	3.76	2.73	0.32206	.	0.644172	0.13827	N	0.360006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	9.206	0.37289	0.6478:0.3522:0.0:0.0	.	.	.	.	X	222;355;222	.	ENSP00000365414:R222X	R	+	1	2	ZNF805	62457062	0.000000	0.05858	0.482000	0.27366	0.963000	0.63663	1.261000	0.32980	0.783000	0.33636	0.460000	0.39030	AGA		0.512	ZNF805-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465722.1		NM_001023563	
