#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ANK3	288	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	61830794	61830794	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr10:61830794A>G	ENST00000280772.2	-	37	10036	c.9845T>C	c.(9844-9846)aTt>aCt	p.I3282T	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3282					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.I3282T(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATTGACTTCAATCATGTCAAC	0.488																																																	1	Substitution - Missense(1)	kidney(1)											187.0	180.0	182.0					10																	61830794		2203	4300	6503	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.9845T>C	10.37:g.61830794A>G	ENSP00000280772:p.Ile3282Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	A	4.328	0.060337	0.08339	.	.	ENSG00000151150	ENST00000280772	T	0.61980	0.06	5.48	4.15	0.48705	.	0.326738	0.22043	N	0.065430	T	0.26484	0.0647	N	0.01168	-0.975	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23332	-1.0191	10	0.07990	T	0.79	.	7.4129	0.27027	0.7944:0.0:0.2056:0.0	.	3282	Q12955	ANK3_HUMAN	T	3282	ENSP00000280772:I3282T	ENSP00000280772:I3282T	I	-	2	0	ANK3	61500800	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.144000	0.50616	2.089000	0.63090	0.459000	0.35465	ATT		0.488	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4		NM_020987	
ANKRD17	26057	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	74005971	74005971	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr4:74005971A>T	ENST00000358602.4	-	15	2478	c.2362T>A	c.(2362-2364)Ttg>Atg	p.L788M	ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Missense_Mutation_p.L675M|ANKRD17_ENST00000330838.6_Intron	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	788					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L788M(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTTGCTGGCAAATGGCTGCTG	0.468																																																	1	Substitution - Missense(1)	kidney(1)											62.0	62.0	62.0					4																	74005971		2203	4300	6503	SO:0001583	missense	26057			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.2362T>A	4.37:g.74005971A>T	ENSP00000351416:p.Leu788Met	Somatic		WXS	Illumina HiSeq	Phase_I	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.577153	0.45902	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000509867;ENST00000411811	T;T	0.68624	1.5;-0.34	5.86	5.86	0.93980	Ankyrin repeat-containing domain (1);	0.117881	0.38436	N	0.001697	T	0.60547	0.2277	L	0.42245	1.32	0.80722	D	1	B;B;B;B	0.25904	0.046;0.137;0.016;0.011	B;B;B;B	0.30316	0.012;0.114;0.008;0.011	T	0.59257	-0.7488	10	0.46703	T	0.11	.	12.4132	0.55480	0.8601:0.1399:0.0:0.0	.	309;788;788;675	B4DR08;O75179-2;O75179;E7EUV3	.;.;ANR17_HUMAN;.	M	788;788;675;788	ENSP00000351416:L788M;ENSP00000427151:L675M	ENSP00000351416:L788M	L	-	1	2	ANKRD17	74224835	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.051000	0.49885	2.367000	0.80283	0.528000	0.53228	TTG		0.468	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1		NM_032217	
ASB16	92591	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	42249555	42249555	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr17:42249555A>G	ENST00000293414.1	+	2	527	c.443A>G	c.(442-444)cAt>cGt	p.H148R		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	148					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.H148R(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GCTGCCTTGCATGAGGCCTGT	0.637																																																	1	Substitution - Missense(1)	kidney(1)											86.0	74.0	78.0					17																	42249555		2203	4300	6503	SO:0001583	missense	92591			AK054727	CCDS11478.1	17q21.31	2013-01-10	2011-01-25		ENSG00000161664	ENSG00000161664		"""Ankyrin repeat domain containing"""	19768	protein-coding gene	gene with protein product		615056	"""ankyrin repeat and SOCS box-containing 16"""			12076535	Standard	NM_080863		Approved	FLJ30165	uc002ifl.1	Q96NS5	OTTHUMG00000181809	ENST00000293414.1:c.443A>G	17.37:g.42249555A>G	ENSP00000293414:p.His148Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B2RBC0|Q8WXK0	Missense_Mutation	SNP	ENST00000293414.1	37	CCDS11478.1	.	.	.	.	.	.	.	.	.	.	A	17.26	3.343516	0.61073	.	.	ENSG00000161664	ENST00000293414	T	0.70399	-0.48	5.47	5.47	0.80525	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.83871	0.5348	M	0.78801	2.425	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.85871	0.1416	10	0.72032	D	0.01	-12.1168	14.662	0.68879	1.0:0.0:0.0:0.0	.	148	Q96NS5	ASB16_HUMAN	R	148	ENSP00000293414:H148R	ENSP00000293414:H148R	H	+	2	0	ASB16	39605081	1.000000	0.71417	1.000000	0.80357	0.164000	0.22412	6.626000	0.74253	2.300000	0.77407	0.533000	0.62120	CAT		0.637	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457703.1			
BICD2	23299	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	95491475	95491475	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr9:95491475T>A	ENST00000375512.3	-	2	351	c.284A>T	c.(283-285)gAc>gTc	p.D95V	BICD2_ENST00000356884.6_Missense_Mutation_p.D95V	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	95					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)	p.D95V(1)		cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GCTCTCTCCGTCAGCAGCCAC	0.597																																																	1	Substitution - Missense(1)	kidney(1)											86.0	74.0	78.0					9																	95491475		2203	4300	6503	SO:0001583	missense	23299			AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.284A>T	9.37:g.95491475T>A	ENSP00000364662:p.Asp95Val	Somatic		WXS	Illumina HiSeq	Phase_I	O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.447247	0.84101	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.54279	0.58;0.58	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.70736	0.3258	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.97;0.982	T	0.70846	-0.4761	10	0.34782	T	0.22	-30.87	13.4703	0.61278	0.0:0.0:0.0:1.0	.	95;95	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	V	95	ENSP00000349351:D95V;ENSP00000364662:D95V	ENSP00000349351:D95V	D	-	2	0	BICD2	94531296	1.000000	0.71417	0.263000	0.24496	0.887000	0.51463	7.819000	0.86621	2.126000	0.65437	0.533000	0.62120	GAC		0.597	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1		NM_015250	
SMG8	55181	hgsc.bcm.edu;ucsc.edu	37	17	57292183	57292194	+	In_Frame_Del	DEL	ACCATGTCCGGT	ACCATGTCCGGT	-	rs138640712|rs369571157	byFrequency	TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	ACCATGTCCGGT	ACCATGTCCGGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr17:57292183_57292194delACCATGTCCGGT	ENST00000543872.2	+	5	3060_3071	c.2796_2807delACCATGTCCGGT	c.(2794-2808)ccaccatgtccggta>cca	p.PCPV933del	SMG8_ENST00000300917.5_In_Frame_Del_p.PCPV933del|CTD-2510F5.6_ENST00000577660.1_In_Frame_Del_p.PCPV52del			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	933					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						CAGGCCCACCACCATGTCCGGTATTCTACCCA	0.415																																																	0																																										SO:0001651	inframe_deletion	0			AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.2796_2807delACCATGTCCGGT	17.37:g.57292183_57292194delACCATGTCCGGT	ENSP00000438748:p.Pro933_Val936del	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	In_Frame_Del	DEL	ENST00000543872.2	37	CCDS11615.1																																																																																				0.415	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2		NM_018149	
LINC00471	151477	broad.mit.edu;hgsc.bcm.edu	37	2	232373743	232373743	+	RNA	SNP	A	A	G			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr2:232373743A>G	ENST00000313064.2	-	0	675					NR_024079.1		Q8N535	CB052_HUMAN	long intergenic non-protein coding RNA 471																		TTGCCAAGGCAGTTTTCAGAG	0.498																																																	0													60.0	63.0	62.0					2																	232373743		2203	4300	6503			0			BC033054		2q37.1	2012-10-12	2011-08-31	2011-08-31	ENSG00000181798	ENSG00000181798		"""Long non-coding RNAs"""	28668	non-coding RNA	RNA, long non-coding			"""chromosome 2 open reading frame 52"""	C2orf52		12477932	Standard	NR_024079		Approved	MGC43122	uc002vrx.1	Q8N535	OTTHUMG00000133227		2.37:g.232373743A>G		Somatic		WXS	Illumina HiSeq	Phase_I		RNA	SNP	ENST00000313064.2	37																																																																																					0.498	LINC00471-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000256963.2		NM_173513	
CAMSAP1	157922	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	138713812	138713812	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr9:138713812T>G	ENST00000389532.4	-	11	2759	c.2695A>C	c.(2695-2697)Atg>Ctg	p.M899L	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.M910L|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.M621L|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	899					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)	p.M899L(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		AGCGCCTCCATCTTCTTCTTC	0.642																																																	1	Substitution - Missense(1)	kidney(1)											49.0	56.0	54.0					9																	138713812		2201	4300	6501	SO:0001583	missense	157922			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.2695A>C	9.37:g.138713812T>G	ENSP00000374183:p.Met899Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	T	14.66	2.601568	0.46423	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.69806	-0.43;-0.43;-0.43	5.11	-1.69	0.08186	.	0.186450	0.64402	D	0.000003	T	0.56499	0.1989	M	0.67953	2.075	0.30530	N	0.767485	B;B	0.31318	0.319;0.036	B;B	0.20767	0.021;0.031	T	0.55042	-0.8202	10	0.87932	D	0	-23.6242	10.1302	0.42674	0.0:0.3493:0.0:0.6507	.	899;910	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	L	899;621;910	ENSP00000374183:M899L;ENSP00000312463:M621L;ENSP00000386420:M910L	ENSP00000312463:M621L	M	-	1	0	CAMSAP1	137853633	1.000000	0.71417	0.972000	0.41901	0.991000	0.79684	2.746000	0.47467	-0.479000	0.06813	-0.256000	0.11100	ATG		0.642	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2		XM_351857	
CDC25C	995	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	137665253	137665253	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr5:137665253A>T	ENST00000323760.6	-	3	556	c.278T>A	c.(277-279)cTt>cAt	p.L93H	CDC25C_ENST00000513970.1_Missense_Mutation_p.L93H|CDC25C_ENST00000415130.2_Intron|CDC25C_ENST00000357274.3_Intron|CDC25C_ENST00000356505.3_Missense_Mutation_p.L93H|CDC25C_ENST00000348983.3_Intron|CDC25C_ENST00000514555.1_Missense_Mutation_p.L93H	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	93					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|WW domain binding (GO:0050699)	p.L93H(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AGTTTCATCAAGGTCTGCAGA	0.463																																																	1	Substitution - Missense(1)	kidney(1)											168.0	167.0	167.0					5																	137665253		2203	4300	6503	SO:0001583	missense	995			M34065	CCDS4202.1, CCDS4203.1	5q31	2013-01-17	2013-01-17		ENSG00000158402	ENSG00000158402		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1727	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 60"""	157680	"""cell division cycle 25C"", ""cell division cycle 25 homolog C (S. cerevisiae)"", ""cell division cycle 25 homolog C (S. pombe)"""	CDC25		1703321	Standard	XM_005272145		Approved	PPP1R60	uc003lcp.1	P30307	OTTHUMG00000129203	ENST00000323760.6:c.278T>A	5.37:g.137665253A>T	ENSP00000321656:p.Leu93His	Somatic		WXS	Illumina HiSeq	Phase_I	D3DQB8|Q96PL3|Q9H168|Q9H2E8|Q9H2E9|Q9H2F1	Missense_Mutation	SNP	ENST00000323760.6	37	CCDS4202.1	.	.	.	.	.	.	.	.	.	.	A	13.35	2.210510	0.39102	.	.	ENSG00000158402	ENST00000323760;ENST00000356505;ENST00000513970;ENST00000534892;ENST00000514555;ENST00000503022;ENST00000510119	T;T;T;T;T;T	0.44881	0.91;2.23;0.91;2.23;0.91;0.91	4.48	1.99	0.26369	.	1.339110	0.05013	N	0.471402	T	0.32285	0.0824	L	0.33485	1.01	0.80722	D	1	B;B;B;B	0.18461	0.023;0.028;0.005;0.006	B;B;B;B	0.19666	0.015;0.026;0.007;0.012	T	0.37549	-0.9701	10	0.49607	T	0.09	-0.1524	3.8278	0.08861	0.709:0.0:0.1037:0.1873	.	110;110;93;93	G3V1P6;B4DX61;P30307-2;P30307	.;.;.;MPIP3_HUMAN	H	93;93;93;110;93;93;110	ENSP00000321656:L93H;ENSP00000348898:L93H;ENSP00000424795:L93H;ENSP00000425470:L93H;ENSP00000427251:L93H;ENSP00000427105:L110H	ENSP00000321656:L93H	L	-	2	0	CDC25C	137693152	0.551000	0.26497	0.996000	0.52242	0.994000	0.84299	0.326000	0.19646	0.746000	0.32786	0.383000	0.25322	CTT		0.463	CDC25C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251280.1			
COL17A1	1308	hgsc.bcm.edu;ucsc.edu	37	10	105815678	105815683	+	In_Frame_Del	DEL	CCATGC	CCATGC	-			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	CCATGC	CCATGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr10:105815678_105815683delCCATGC	ENST00000353479.5	-	18	1834_1839	c.1544_1549delGCATGG	c.(1543-1551)agcatggat>aat	p.515_517SMD>N	COL17A1_ENST00000369733.3_In_Frame_Del_p.515_517SMD>N|COL17A1_ENST00000480127.1_5'UTR	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	515	Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TCTATTCTATCCATGCTGTCCCCATA	0.583																																																	0																																										SO:0001651	inframe_deletion	1308			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.1544_1549delGCATGG	10.37:g.105815678_105815683delCCATGC	ENSP00000340937:p.Ser515_Asp517delinsAsn	Somatic		WXS	Illumina HiSeq	Phase_I	Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	In_Frame_Del	DEL	ENST00000353479.5	37	CCDS7554.1																																																																																				0.583	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1		NM_130778, NM_000494	
COL4A5	1287	broad.mit.edu;hgsc.bcm.edu	37	X	107849993	107849993	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chrX:107849993C>T	ENST00000361603.2	+	29	2510	c.2266C>T	c.(2266-2268)Cct>Tct	p.P756S	COL4A5_ENST00000328300.6_Missense_Mutation_p.P756S	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	756	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)	p.P756S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ATTTGCATTACCTGGGCCACC	0.493									Alport syndrome with Diffuse Leiomyomatosis																																								1	Substitution - Missense(1)	kidney(1)											149.0	120.0	130.0					X																	107849993		2203	4300	6503	SO:0001583	missense	1287	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.2266C>T	X.37:g.107849993C>T	ENSP00000354505:p.Pro756Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336298	0.60963	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.93763	-3.28;-3.14	5.61	5.61	0.85477	.	0.119417	0.56097	N	0.000021	D	0.96516	0.8863	M	0.79123	2.44	0.54753	D	0.999988	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.986;0.995;0.986	D	0.95485	0.8564	10	0.31617	T	0.26	.	18.6523	0.91435	0.0:1.0:0.0:0.0	.	756;364;756	E7EVY4;Q49AM6;P29400	.;.;CO4A5_HUMAN	S	756	ENSP00000331902:P756S;ENSP00000354505:P756S	ENSP00000331902:P756S	P	+	1	0	COL4A5	107736649	1.000000	0.71417	0.985000	0.45067	0.852000	0.48524	4.612000	0.61169	2.348000	0.79779	0.600000	0.82982	CCT		0.493	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			
CSMD1	64478	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	3566004	3566004	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr8:3566004G>A	ENST00000520002.1	-	7	1496	c.941C>T	c.(940-942)gCg>gTg	p.A314V	CSMD1_ENST00000400186.3_Missense_Mutation_p.A314V|CSMD1_ENST00000602723.1_Missense_Mutation_p.A314V|CSMD1_ENST00000542608.1_Missense_Mutation_p.A314V|CSMD1_ENST00000539096.1_Missense_Mutation_p.A314V|CSMD1_ENST00000602557.1_Missense_Mutation_p.A314V|CSMD1_ENST00000537824.1_Missense_Mutation_p.A314V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	314						integral component of membrane (GO:0016021)		p.A314V(1)|p.A42V(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAACTCAATCGCCTTTTTCAC	0.433																																																	2	Substitution - Missense(2)	kidney(2)											79.0	78.0	78.0					8																	3566004		1954	4163	6117	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.941C>T	8.37:g.3566004G>A	ENSP00000430733:p.Ala314Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	G	21.1	4.099838	0.76983	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.26223	1.75;1.86;1.9;1.76;2.2	5.54	5.54	0.83059	.	.	.	.	.	T	0.40119	0.1104	L	0.40543	1.245	0.45239	D	0.998244	D	0.64830	0.994	D	0.63877	0.919	T	0.02683	-1.1124	9	0.27082	T	0.32	.	17.2539	0.87050	0.0:0.0:1.0:0.0	.	314	E5RIG2	.	V	314;314;176;314;314;314	ENSP00000383047:A314V;ENSP00000430733:A314V;ENSP00000441462:A314V;ENSP00000446243:A314V;ENSP00000441675:A314V	ENSP00000320445:A176V	A	-	2	0	CSMD1	3553412	1.000000	0.71417	0.989000	0.46669	0.957000	0.61999	7.579000	0.82511	2.580000	0.87095	0.650000	0.86243	GCG		0.433	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2		NM_033225	
CSMD3	114788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	113347652	113347652	+	Silent	SNP	G	G	T	rs113449703		TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr8:113347652G>T	ENST00000297405.5	-	45	7315	c.7071C>A	c.(7069-7071)acC>acA	p.T2357T	CSMD3_ENST00000343508.3_Silent_p.T2317T|CSMD3_ENST00000455883.2_Silent_p.T2253T|CSMD3_ENST00000352409.3_Silent_p.T2287T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2357	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T2317T(1)|p.T2357T(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTCCAAAGCGGTATTGCCAC	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							2	Substitution - coding silent(2)	kidney(2)											132.0	119.0	124.0					8																	113347652		2203	4300	6503	SO:0001819	synonymous_variant	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7071C>A	8.37:g.113347652G>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q96PZ3	Silent	SNP	ENST00000297405.5	37	CCDS6315.1																																																																																				0.423	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		NM_052900	
DDB1	1642	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	61070127	61070127	+	Silent	SNP	T	T	C			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr11:61070127T>C	ENST00000301764.7	-	24	3436	c.3039A>G	c.(3037-3039)gtA>gtG	p.V1013V	DDB1_ENST00000538470.1_Silent_p.V60V|DDB1_ENST00000451943.2_5'UTR|DDB1_ENST00000450997.2_Silent_p.V324V	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	1013	Interaction with CDT1 and CUL4A.|WD repeat beta-propeller C.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)	p.V1013V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GATTCTGCATTACCAGAGAGC	0.592								Nucleotide excision repair (NER)																																									1	Substitution - coding silent(1)	kidney(1)											141.0	144.0	143.0					11																	61070127		2203	4299	6502	SO:0001819	synonymous_variant	1642			AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.3039A>G	11.37:g.61070127T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Silent	SNP	ENST00000301764.7	37	CCDS31576.1																																																																																				0.592	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1		NM_001923	
DNAJB11	51726	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	186299170	186299170	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr3:186299170A>C	ENST00000439351.1	+	6	1396	c.467A>C	c.(466-468)aAc>aCc	p.N156T	DNAJB11_ENST00000265028.3_Missense_Mutation_p.N156T			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	156					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|mRNA modification (GO:0016556)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634)		p.N156T(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		GTAGTTAGAAACAAACCTGTG	0.512																																																	1	Substitution - Missense(1)	kidney(1)											93.0	85.0	88.0					3																	186299170		2203	4300	6503	SO:0001583	missense	51726			AB028859	CCDS3277.1	3q27	2011-09-02			ENSG00000090520	ENSG00000090520		"""Heat shock proteins / DNAJ (HSP40)"""	14889	protein-coding gene	gene with protein product		611341				10827079, 11147971	Standard	NM_016306		Approved	EDJ, HEDJ, ERdj3	uc003fqi.3	Q9UBS4	OTTHUMG00000156614	ENST00000439351.1:c.467A>C	3.37:g.186299170A>C	ENSP00000414398:p.Asn156Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q542Y5|Q542Y9|Q6IAQ8|Q96JC6	Missense_Mutation	SNP	ENST00000439351.1	37	CCDS3277.1	.	.	.	.	.	.	.	.	.	.	A	12.88	2.071750	0.36566	.	.	ENSG00000090520	ENST00000439351;ENST00000265028	T;T	0.67171	-0.25;-0.25	6.03	6.03	0.97812	HSP40/DnaJ peptide-binding (1);	0.042641	0.85682	D	0.000000	T	0.52933	0.1765	N	0.22421	0.69	0.80722	D	1	B	0.12013	0.005	B	0.12156	0.007	T	0.48007	-0.9072	10	0.24483	T	0.36	-21.9494	14.5176	0.67830	1.0:0.0:0.0:0.0	.	156	Q9UBS4	DJB11_HUMAN	T	156	ENSP00000414398:N156T;ENSP00000265028:N156T	ENSP00000265028:N156T	N	+	2	0	DNAJB11	187781864	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.983000	0.70540	2.302000	0.77476	0.533000	0.62120	AAC		0.512	DNAJB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344779.1			
DUSP19	142679	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	183960371	183960371	+	Silent	SNP	G	G	A			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr2:183960371G>A	ENST00000354221.4	+	4	814	c.639G>A	c.(637-639)caG>caA	p.Q213Q	DUSP19_ENST00000469344.1_3'UTR|DUSP19_ENST00000342619.6_Silent_p.Q162Q|AC064871.3_ENST00000413954.1_RNA|AC064871.3_ENST00000444562.1_RNA	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19	213					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase activity (GO:0045860)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	JUN kinase phosphatase activity (GO:0008579)|MAP-kinase scaffold activity (GO:0005078)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase activator activity (GO:0030295)|protein kinase inhibitor activity (GO:0004860)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/threonine phosphatase activity (GO:0008330)	p.Q213Q(1)		breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						ACAGAATACAGGAGAACAGTT	0.398																																																	1	Substitution - coding silent(1)	kidney(1)											92.0	89.0	90.0					2																	183960371		2203	4300	6503	SO:0001819	synonymous_variant	142679			AB038770	CCDS2289.1, CCDS46469.1	2q32.1	2011-06-09			ENSG00000162999	ENSG00000162999		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	18894	protein-coding gene	gene with protein product		611437					Standard	NM_080876		Approved	SKRP1, DUSP17	uc002upd.3	Q8WTR2	OTTHUMG00000132622	ENST00000354221.4:c.639G>A	2.37:g.183960371G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2RA79|Q547H4|Q8WYN4	Silent	SNP	ENST00000354221.4	37	CCDS2289.1																																																																																				0.398	DUSP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255866.1			
FAT4	79633	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	126411497	126411497	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr4:126411497C>T	ENST00000394329.3	+	17	13533	c.13520C>T	c.(13519-13521)gCc>gTc	p.A4507V	FAT4_ENST00000335110.5_Missense_Mutation_p.A2748V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4507					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A4507V(1)|p.A4450V(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCTGTGCCTGCCATCGTGGGC	0.587																																																	2	Substitution - Missense(2)	kidney(2)											70.0	69.0	69.0					4																	126411497		2203	4300	6503	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13520C>T	4.37:g.126411497C>T	ENSP00000377862:p.Ala4507Val	Somatic		WXS	Illumina HiSeq	Phase_I	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192654	0.78902	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.76186	-0.8;-1.0	5.17	5.17	0.71159	.	0.000000	0.34110	U	0.004257	T	0.67933	0.2946	L	0.58101	1.795	0.58432	D	0.999994	P;P;P	0.46142	0.873;0.799;0.873	B;B;B	0.40101	0.319;0.17;0.319	T	0.69296	-0.5182	10	0.02654	T	1	.	17.6678	0.88208	0.0:1.0:0.0:0.0	.	2748;4507;4506	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	V	4507;2748	ENSP00000377862:A4507V;ENSP00000335169:A2748V	ENSP00000335169:A2748V	A	+	2	0	FAT4	126630947	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.797000	0.69087	2.395000	0.81488	0.561000	0.74099	GCC		0.587	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582	
GPR26	2849	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	125426346	125426346	+	Silent	SNP	G	G	A			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr10:125426346G>A	ENST00000284674.1	+	1	476	c.423G>A	c.(421-423)gcG>gcA	p.A141A		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	141					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A141A(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CAGCCGCCGCGCTCGCCCTGT	0.711																																																	1	Substitution - coding silent(1)	kidney(1)											11.0	12.0	11.0					10																	125426346		2186	4260	6446	SO:0001819	synonymous_variant	2849				CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"""GPCR / Class A : Orphans"""	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.423G>A	10.37:g.125426346G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q2M2E2	Silent	SNP	ENST00000284674.1	37	CCDS7636.1																																																																																				0.711	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050850.1			
HLA-DRA	3122	broad.mit.edu;hgsc.bcm.edu	37	6	32410977	32410978	+	Frame_Shift_Del	DEL	CT	CT	-	rs61117681	byFrequency	TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr6:32410977_32410978delCT	ENST00000395388.2	+	3	453_454	c.344_345delCT	c.(343-345)actfs	p.T115fs	HLA-DRA_ENST00000374982.5_Intron	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	115	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002504)|cognition (GO:0050890)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|polysaccharide assembly with MHC class II protein complex (GO:0002506)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						CCAGAGGTAACTGTGCTCACAA	0.52									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of																																								0																																										SO:0001589	frameshift_variant	3122	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;		CCDS4750.1	6p21.3	2013-01-11			ENSG00000204287	ENSG00000204287		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4947	protein-coding gene	gene with protein product		142860		HLA-DRA1			Standard	NM_019111		Approved		uc003obh.3	P01903	OTTHUMG00000031269	ENST00000395388.2:c.344_345delCT	6.37:g.32410977_32410978delCT	ENSP00000378786:p.Thr115fs	Somatic		WXS	Illumina HiSeq	Phase_I	A2BET4|Q30160|Q6IAZ1|Q861I2|Q9TP70	Frame_Shift_Del	DEL	ENST00000395388.2	37	CCDS4750.1																																																																																				0.520	HLA-DRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076586.2		NM_019111	
HMHA1	23526	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	1073241	1073241	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr19:1073241A>G	ENST00000313093.2	+	3	746	c.515A>G	c.(514-516)aAc>aGc	p.N172S	HMHA1_ENST00000543365.1_Missense_Mutation_p.N55S|HMHA1_ENST00000586866.1_Missense_Mutation_p.N176S|HMHA1_ENST00000536472.1_Missense_Mutation_p.N12S|HMHA1_ENST00000539243.2_Missense_Mutation_p.N188S|HMHA1_ENST00000592335.1_3'UTR|HMHA1_ENST00000590214.1_Missense_Mutation_p.N199S	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	172					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)	p.N172S(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCTGCTGAACACCGTGGAG	0.647																																																	1	Substitution - Missense(1)	kidney(1)											66.0	63.0	64.0					19																	1073241		2202	4300	6502	SO:0001583	missense	23526			D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.515A>G	19.37:g.1073241A>G	ENSP00000316772:p.Asn172Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	37	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.388256	0.82902	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.27402	1.69;1.69;1.68;1.67	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.55065	0.1897	M	0.81942	2.565	0.49798	D	0.999822	D;D;D;D	0.89917	1.0;0.986;0.999;0.981	D;P;D;P	0.85130	0.997;0.795;0.991;0.702	T	0.57997	-0.7714	10	0.45353	T	0.12	-43.7187	12.0031	0.53243	1.0:0.0:0.0:0.0	.	12;188;55;172	F5H4A3;F6QP70;F5H1R4;Q92619	.;.;.;HMHA1_HUMAN	S	188;172;172;12;166;55	ENSP00000439601:N188S;ENSP00000316772:N172S;ENSP00000445109:N12S;ENSP00000438979:N55S	ENSP00000316772:N172S	N	+	2	0	HMHA1	1024241	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.881000	0.75584	1.511000	0.48818	0.402000	0.26972	AAC		0.647	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			
KCNB2	9312	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	73480522	73480522	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr8:73480522A>G	ENST00000523207.1	+	2	1141	c.553A>G	c.(553-555)Aaa>Gaa	p.K185E		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	185					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.K185E(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CTTGCTGGAGAAACCTAACTC	0.458																																																	1	Substitution - Missense(1)	kidney(1)											76.0	81.0	79.0					8																	73480522		2200	4299	6499	SO:0001583	missense	9312			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.553A>G	8.37:g.73480522A>G	ENSP00000430846:p.Lys185Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.943947	0.73672	.	.	ENSG00000182674	ENST00000523207	D	0.96885	-4.16	5.77	5.77	0.91146	.	0.331813	0.21579	U	0.072262	D	0.94666	0.8280	L	0.50919	1.6	0.80722	D	1	B	0.25441	0.126	B	0.25987	0.065	D	0.92633	0.6118	10	0.54805	T	0.06	.	16.068	0.80903	1.0:0.0:0.0:0.0	.	185	Q92953	KCNB2_HUMAN	E	185	ENSP00000430846:K185E	ENSP00000430846:K185E	K	+	1	0	KCNB2	73643076	1.000000	0.71417	0.991000	0.47740	0.946000	0.59487	9.287000	0.95975	2.326000	0.78906	0.533000	0.62120	AAA		0.458	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1		NM_004770	
KCND3	3752	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	112319724	112319724	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr1:112319724C>T	ENST00000315987.2	-	7	2169	c.1690G>A	c.(1690-1692)Gct>Act	p.A564T	KCND3_ENST00000302127.4_Missense_Mutation_p.A545T|KCND3_ENST00000369697.1_Missense_Mutation_p.A545T	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	564				A -> D (in Ref. 2; AAF01044/AAF01045). {ECO:0000305}.	cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.A545T(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	AGGCGAGTAGCTGGCAGGTTA	0.597																																																	1	Substitution - Missense(1)	kidney(1)											184.0	162.0	170.0					1																	112319724		2203	4300	6503	SO:0001583	missense	3752			AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.1690G>A	1.37:g.112319724C>T	ENSP00000319591:p.Ala564Thr	Somatic		WXS	Illumina HiSeq	Phase_I	O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	37	CCDS843.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.349832	0.41599	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.83755	-1.76;-1.76;-1.76	5.46	5.46	0.80206	Potassium channel, voltage dependent, Kv4, C-terminal (1);	0.338684	0.34156	N	0.004202	T	0.69869	0.3159	L	0.51422	1.61	0.54753	D	0.999987	B;B	0.12013	0.002;0.005	B;B	0.18263	0.014;0.021	T	0.67925	-0.5544	10	0.12766	T	0.61	.	18.9016	0.92444	0.0:1.0:0.0:0.0	.	545;564	Q14D71;Q9UK17	.;KCND3_HUMAN	T	545;564;545	ENSP00000358711:A545T;ENSP00000319591:A564T;ENSP00000306923:A545T	ENSP00000306923:A545T	A	-	1	0	KCND3	112121247	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.863000	0.69568	2.570000	0.86706	0.650000	0.86243	GCT		0.597	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1		NM_172198	
KDR	3791	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	55979581	55979581	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr4:55979581delA	ENST00000263923.4	-	7	1161	c.866delT	c.(865-867)ttgfs	p.L289fs		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	289	Ig-like C2-type 3.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TAAGGTGCTCAAAAATTTCTT	0.433			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																														Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	0													154.0	147.0	149.0					4																	55979581		2203	4300	6503	SO:0001589	frameshift_variant	3791			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.866delT	4.37:g.55979581delA	ENSP00000263923:p.Leu289fs	Somatic		WXS	Illumina HiSeq	Phase_I	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Frame_Shift_Del	DEL	ENST00000263923.4	37	CCDS3497.1																																																																																				0.433	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			
KIF17	57576	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	20998503	20998504	+	Missense_Mutation	DNP	AC	AC	GT			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	A|C	A|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr1:20998503_20998504AC>GT	ENST00000247986.2	-	12	2959_2960	c.2649_2650GT>AC	c.(2647-2652)gaGTcc>gaACcc	p.S884P	KIF17_ENST00000400463.3_Missense_Mutation_p.S884P|KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000375044.1_Missense_Mutation_p.S784P			Q9P2E2	KIF17_HUMAN	kinesin family member 17	884					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)	p.S884P(2)|p.E883E(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TCCCAGCAGGACTCACGCAGAA	0.574																																																	3	Substitution - Missense(2)|Substitution - coding silent(1)	kidney(3)																																								SO:0001583	missense	57576			AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.2649_2650delinsGT	1.37:g.20998503_20998504delinsGT	ENSP00000247986:p.Ser884Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation|Silent	SNP	ENST00000247986.2	37	CCDS213.1																																																																																				0.574	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1		NM_020816	
KLC1	3831	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	104123884	104123884	+	Splice_Site	DEL	T	T	-			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr14:104123884delT	ENST00000348520.6	+	3	582	c.263delT	c.(262-264)gtt>gt	p.V88fs	KLC1_ENST00000380038.3_Splice_Site_p.V88fs|RP11-73M18.2_ENST00000472726.2_Splice_Site_p.V260fs|KLC1_ENST00000334553.6_Splice_Site_p.V88fs|KLC1_ENST00000452929.2_Splice_Site_p.V88fs|KLC1_ENST00000389744.4_Splice_Site_p.V88fs|KLC1_ENST00000557450.1_Splice_Site_p.V88fs|KLC1_ENST00000554280.1_Splice_Site_p.V88fs|KLC1_ENST00000557575.1_Splice_Site_p.V88fs|KLC1_ENST00000445352.4_Splice_Site_p.V88fs|KLC1_ENST00000347839.6_Splice_Site_p.V88fs|KLC1_ENST00000555836.1_Splice_Site_p.V88fs|KLC1_ENST00000246489.7_Splice_Site_p.V88fs|KLC1_ENST00000553286.1_Splice_Site_p.V88fs	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1	88					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|stress granule disassembly (GO:0035617)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|growth cone (GO:0030426)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)|motor activity (GO:0003774)		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				TCTGCTCAGGTTATGATGGCT	0.552																																																	0													89.0	66.0	74.0					14																	104123884		2203	4300	6503	SO:0001630	splice_region_variant	3831			AF267530	CCDS32165.1, CCDS41996.1, CCDS45168.1	14q32.3	2013-01-10	2007-03-09	2007-03-09	ENSG00000126214	ENSG00000126214		"""Tetratricopeptide (TTC) repeat domain containing"""	6387	protein-coding gene	gene with protein product		600025	"""kinesin 2 60/70kDa"", ""kinesin 2"""	KNS2		8274221, 11106729	Standard	NM_005552		Approved	KNS2A, KLC, hKLC1S, hKLC1N, hKLC1P, hKLC1G, hKLC1R, hKLC1J, hKLC1B	uc010tyf.2	Q07866	OTTHUMG00000169227	ENST00000348520.6:c.262-1T>-	14.37:g.104123884delT		Somatic		WXS	Illumina HiSeq	Phase_I	A6NF62|F8VTM4|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ3|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62	Frame_Shift_Del	DEL	ENST00000348520.6	37	CCDS41996.1																																																																																				0.552	KLC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402947.2		NM_005552	Frame_Shift_Del
KRT1	3848	hgsc.bcm.edu	37	12	53069223	53069243	+	In_Frame_Del	DEL	ACCTCCGGAGCCGTAGCTGCT	ACCTCCGGAGCCGTAGCTGCT	-	rs77846840|rs540699806|rs11170232|rs370799361|rs267607656	byFrequency	TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	ACCTCCGGAGCCGTAGCTGCT	ACCTCCGGAGCCGTAGCTGCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr12:53069223_53069243delACCTCCGGAGCCGTAGCTGCT	ENST00000252244.3	-	9	1727_1747	c.1669_1689delAGCAGCTACGGCTCCGGAGGT	c.(1669-1689)agcagctacggctccggaggtdel	p.SSYGSGG557del		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	557	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)	p.S557_G563delSSYGSGG(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						catagctgccacctccggagccgtagctgctacctccggag	0.697														1779	0.355232	0.4372	0.3905	5008	,	,		11351	0.1349		0.3459	False		,,,				2504	0.456																3	Deletion - In frame(3)	prostate(2)|central_nervous_system(1)								1255,1949		405,445,752						0.8	0.1		dbSNP_130	5	2781,3759		866,1049,1355	no	coding	KRT1	NM_006121.3		1271,1494,2107	A1A1,A1R,RR		42.5229,39.1698,41.4204				4036,5708				SO:0001651	inframe_deletion	3848			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1669_1689delAGCAGCTACGGCTCCGGAGGT	12.37:g.53069223_53069243delACCTCCGGAGCCGTAGCTGCT	ENSP00000252244:p.Ser557_Gly563del	Somatic		WXS	Illumina HiSeq	Phase_I	B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	In_Frame_Del	DEL	ENST00000252244.3	37	CCDS8836.1																																																																																				0.697	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1		NM_006121	
LRRC24	441381	broad.mit.edu;hgsc.bcm.edu	37	8	145748563	145748563	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr8:145748563C>G	ENST00000529415.2	-	5	955	c.838G>C	c.(838-840)Gcc>Ccc	p.A280P	LRRC14_ENST00000292524.1_3'UTR|LRRC24_ENST00000533758.1_Missense_Mutation_p.A277P|LRRC14_ENST00000528528.1_3'UTR			Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24	280	Ig-like C2-type.					integral component of membrane (GO:0016021)		p.A280P(1)		breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GCTTGGCAGGCAACCCGCAGG	0.677																																																	1	Substitution - Missense(1)	kidney(1)											13.0	14.0	14.0					8																	145748563		2177	4285	6462	SO:0001583	missense	441381			AB178281	CCDS34969.1	8q24.3	2013-01-11			ENSG00000254402	ENSG00000254402		"""Immunoglobulin superfamily / I-set domain containing"""	28947	protein-coding gene	gene with protein product						7584026	Standard	NM_001024678		Approved	LRRC14OS	uc003zdm.3	Q50LG9	OTTHUMG00000165180	ENST00000529415.2:c.838G>C	8.37:g.145748563C>G	ENSP00000434849:p.Ala280Pro	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000529415.2	37	CCDS34969.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535449	0.64972	.	.	ENSG00000254402	ENST00000529415;ENST00000533758	T;T	0.67698	-0.28;-0.28	4.73	2.75	0.32379	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.358136	0.30142	N	0.010307	T	0.54095	0.1837	N	0.05306	-0.075	0.37415	D	0.913416	D;D	0.60575	0.985;0.988	P;P	0.61658	0.827;0.892	T	0.59440	-0.7454	10	0.49607	T	0.09	.	3.5869	0.07974	0.2118:0.5764:0.0:0.2118	.	277;280	G3V1D8;Q50LG9	.;LRC24_HUMAN	P	280;277	ENSP00000434849:A280P;ENSP00000435653:A277P	ENSP00000434849:A280P	A	-	1	0	LRRC24	145719371	0.949000	0.32298	0.953000	0.39169	0.949000	0.60115	1.821000	0.39041	1.212000	0.43366	0.561000	0.74099	GCC		0.677	LRRC24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382501.2		NM_001024678	
DNAAF1	123872	broad.mit.edu;hgsc.bcm.edu	37	16	84211446	84211446	+	Nonstop_Mutation	SNP	A	A	G			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr16:84211446A>G	ENST00000378553.5	+	12	2301	c.2177A>G	c.(2176-2178)tAg>tGg	p.*726W	DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	0					axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)	p.*726W(1)		NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						AAAGCATCATAGTTTTCCCCA	0.507																																																	1	Nonstop extension(1)	kidney(1)											92.0	82.0	85.0					16																	84211446		2200	4300	6500	SO:0001578	stop_lost	0			BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.2177A>G	16.37:g.84211446A>G	ENSP00000367815:p.*726Trpext*?	Somatic		WXS	Illumina HiSeq	Phase_I	B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	37	CCDS10943.2	.	.	.	.	.	.	.	.	.	.	A	0.515	-0.864786	0.02590	.	.	ENSG00000154099	ENST00000378553	.	.	.	1.4	-2.8	0.05823	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.6984	0.08374	0.2927:0.3628:0.3446:0.0	.	.	.	.	W	726	.	.	X	+	2	0	DNAAF1	82768947	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.848000	0.01673	-1.732000	0.01359	-0.376000	0.06991	TAG		0.507	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3		NM_178452	
LZTR1	8216	hgsc.bcm.edu	37	22	21348927	21348927	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr22:21348927delT	ENST00000215739.8	+	15	2055	c.1696delT	c.(1696-1698)tgcfs	p.C566fs	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Frame_Shift_Del_p.C547fs	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	566					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GGAGCAGCTGTGCCGCCAGTA	0.632																																																	0													60.0	46.0	51.0					22																	21348927		2202	4300	6502	SO:0001589	frameshift_variant	8216			D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.1696delT	22.37:g.21348927delT	ENSP00000215739:p.Cys566fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q14776|Q20WK0	Frame_Shift_Del	DEL	ENST00000215739.8	37	CCDS33606.1																																																																																				0.632	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1		NM_006767	
MAGT1	84061	broad.mit.edu;hgsc.bcm.edu	37	X	77096799	77096799	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chrX:77096799C>G	ENST00000358075.6	-	8	1027	c.941G>C	c.(940-942)gGa>gCa	p.G314A		NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	282					cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)	p.G282A(1)		cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						AAGCACCATTCCTAAGGTAAC	0.368																																																	1	Substitution - Missense(1)	kidney(1)											131.0	114.0	120.0					X																	77096799		2203	4296	6499	SO:0001583	missense	84061				CCDS14436.2	Xq21.1	2014-09-17			ENSG00000102158	ENSG00000102158			28880	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog B (S. cerevisiae)"""	300715				15804357	Standard	NM_032121		Approved	DKFZp564K142, IAP, OST3B, MRX95	uc004fof.3	Q9H0U3	OTTHUMG00000021882	ENST00000358075.6:c.941G>C	X.37:g.77096799C>G	ENSP00000354649:p.Gly314Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6	Missense_Mutation	SNP	ENST00000358075.6	37	CCDS14436.2	.	.	.	.	.	.	.	.	.	.	C	19.72	3.879954	0.72294	.	.	ENSG00000102158	ENST00000358075;ENST00000453109	D	0.81996	-1.56	5.26	5.26	0.73747	.	0.000000	0.85682	U	0.000000	D	0.90366	0.6985	M	0.84948	2.725	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	D	0.88727	0.3234	10	0.15952	T	0.53	-7.5031	14.5319	0.67931	0.0:1.0:0.0:0.0	.	282	Q9H0U3	MAGT1_HUMAN	A	314;165	ENSP00000354649:G314A	ENSP00000354649:G314A	G	-	2	0	MAGT1	76983455	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	5.538000	0.67193	2.175000	0.68902	0.468000	0.43344	GGA		0.368	MAGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057301.2		NM_032121	
MRPL14	64928	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	44081767	44081767	+	Missense_Mutation	SNP	G	G	A	rs368426589		TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr6:44081767G>A	ENST00000372014.3	-	3	382	c.251C>T	c.(250-252)gCg>gTg	p.A84V		NM_032111.2	NP_115487.2	Q6P1L8	RM14_HUMAN	mitochondrial ribosomal protein L14	84					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.A84V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)			CACAATGAGCGCCTTTTTCTT	0.562																																																	1	Substitution - Missense(1)	kidney(1)						G	VAL/ALA	0,4406		0,0,2203	166.0	168.0	167.0		251	4.9	0.9	6		167	2,8598	2.2+/-6.3	0,2,4298	no	missense	MRPL14	NM_032111.2	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	84/146	44081767	2,13004	2203	4300	6503	SO:0001583	missense	64928			AB051339	CCDS34460.1	6p21.3	2012-09-13			ENSG00000180992	ENSG00000180992		"""Mitochondrial ribosomal proteins / large subunits"""	14279	protein-coding gene	gene with protein product		611827					Standard	XM_005249300		Approved	RPML32, MRP-L32	uc003owp.3	Q6P1L8	OTTHUMG00000014756	ENST00000372014.3:c.251C>T	6.37:g.44081767G>A	ENSP00000361084:p.Ala84Val	Somatic		WXS	Illumina HiSeq	Phase_I	B2R575|Q96Q72	Missense_Mutation	SNP	ENST00000372014.3	37	CCDS34460.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.899638	0.91962	0.0	2.33E-4	ENSG00000180992	ENST00000372014	.	.	.	5.79	4.92	0.64577	Ribosomal protein L14 domain (2);	0.049568	0.85682	N	0.000000	T	0.72277	0.3440	M	0.90483	3.12	0.80722	D	1	D	0.63046	0.992	P	0.53313	0.723	T	0.80623	-0.1300	9	0.72032	D	0.01	-1.2752	16.0824	0.81014	0.0:0.1339:0.8661:0.0	.	84	Q6P1L8	RM14_HUMAN	V	84	.	ENSP00000361084:A84V	A	-	2	0	MRPL14	44189745	1.000000	0.71417	0.938000	0.37757	0.863000	0.49368	9.858000	0.99539	1.433000	0.47394	0.561000	0.74099	GCG		0.562	MRPL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040707.1		NM_032111	
MSLNL	401827	broad.mit.edu;hgsc.bcm.edu	37	16	823128	823128	+	Splice_Site	SNP	C	C	T			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr16:823128C>T	ENST00000442466.1	-	9	1086		c.e9+1		MSLNL_ENST00000293892.3_Splice_Site|MIR662_ENST00000384847.1_RNA			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.?(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CAGCCGTGCACCTGTGCGAGC	0.657																																																	1	Unknown(1)	kidney(1)											48.0	58.0	55.0					16																	823128		2100	4221	6321	SO:0001630	splice_region_variant	401827					16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.1086+1G>A	16.37:g.823128C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Splice_Site	SNP	ENST00000442466.1	37		.	.	.	.	.	.	.	.	.	.	C	9.841	1.191137	0.21954	.	.	ENSG00000162006	ENST00000543963;ENST00000442466;ENST00000293892	.	.	.	4.19	4.19	0.49359	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6881	0.62529	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MSLNL	763129	0.282000	0.24268	0.886000	0.34754	0.109000	0.19521	0.827000	0.27421	2.323000	0.78572	0.543000	0.68304	.		0.657	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_001025190	Intron
MYOM1	8736	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	3089566	3089566	+	Silent	SNP	T	T	C			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr18:3089566T>C	ENST00000356443.4	-	28	4371	c.4038A>G	c.(4036-4038)gaA>gaG	p.E1346E	MYOM1_ENST00000261606.7_Silent_p.E1250E|MYOM1_ENST00000400569.3_Silent_p.E1346E	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1346					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.E1346E(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCCGCTGGAATTCAGCTTCTT	0.358																																																	1	Substitution - coding silent(1)	kidney(1)											66.0	60.0	62.0					18																	3089566		1814	4076	5890	SO:0001819	synonymous_variant	8736			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.4038A>G	18.37:g.3089566T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q14BD6|Q6H969|Q6ZUU0	Silent	SNP	ENST00000356443.4	37	CCDS45824.1																																																																																				0.358	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2		NM_003803	
NPR2	4882	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	35808676	35808678	+	In_Frame_Del	DEL	TAC	TAC	-	rs201806512		TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	TAC	TAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr9:35808676_35808678delTAC	ENST00000342694.2	+	19	3138_3140	c.2883_2885delTAC	c.(2881-2886)catact>cat	p.T962del	SPAG8_ENST00000340291.2_Intron|SPAG8_ENST00000479751.1_5'Flank|AL133410.1_ENST00000582432.1_RNA	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	962	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TAGGGGTCCATACTGGTAAGGCT	0.547																																																	0																																										SO:0001651	inframe_deletion	4882			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.2883_2885delTAC	9.37:g.35808676_35808678delTAC	ENSP00000341083:p.Thr962del	Somatic		WXS	Illumina HiSeq	Phase_I	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	In_Frame_Del	DEL	ENST00000342694.2	37	CCDS6590.1																																																																																				0.547	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			
PCDHA12	56137	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140255065	140255065	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr5:140255065T>A	ENST00000398631.2	+	1	8	c.8T>A	c.(7-9)aTt>aAt	p.I3N	PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	3					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I3N(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAATGGTGATTATCGGACCA	0.542																																					Pancreas(113;759 1672 13322 24104 50104)												1	Substitution - Missense(1)	kidney(1)											33.0	37.0	35.0					5																	140255065		2161	4292	6453	SO:0001583	missense	56137			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.8T>A	5.37:g.140255065T>A	ENSP00000381628:p.Ile3Asn	Somatic		WXS	Illumina HiSeq	Phase_I	O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	T	10.78	1.447588	0.26074	.	.	ENSG00000251664	ENST00000398631	T	0.50813	0.73	5.52	1.54	0.23209	.	.	.	.	.	T	0.24509	0.0594	N	0.11789	0.175	0.09310	N	1	B;B	0.30686	0.284;0.29	B;B	0.26693	0.047;0.072	T	0.14699	-1.0463	9	0.27082	T	0.32	.	6.2457	0.20815	0.0:0.1481:0.3648:0.4871	.	3;3	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	N	3	ENSP00000381628:I3N	ENSP00000381628:I3N	I	+	2	0	PCDHA12	140235249	.	.	0.010000	0.14722	0.030000	0.12068	.	.	0.374000	0.24650	0.533000	0.62120	ATT		0.542	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2		NM_018903	
PHACTR1	221692	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	13283726	13283726	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr6:13283726G>C	ENST00000379335.3	+	3	379	c.274G>C	c.(274-276)Gtg>Ctg	p.V92L	RP1-257A7.4_ENST00000399446.2_RNA|RP1-257A7.4_ENST00000606150.1_RNA|PHACTR1_ENST00000332995.7_Missense_Mutation_p.V528L|PHACTR1_ENST00000457702.2_Missense_Mutation_p.V383L|PHACTR1_ENST00000379329.1_Missense_Mutation_p.V92L			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	528					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)	p.E362D(1)|p.V528L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CTACGTGGAGGTGGCTGACGC	0.597																																																	2	Substitution - Missense(2)	kidney(2)											112.0	126.0	121.0					6																	13283726		2084	4210	6294	SO:0001583	missense	221692			AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379335.3:c.274G>C	6.37:g.13283726G>C	ENSP00000368639:p.Val92Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379335.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.8|22.8	4.333621|4.333621	0.81801|0.81801	.|.	.|.	ENSG00000112137|ENSG00000112137	ENST00000415087|ENST00000332995;ENST00000457702;ENST00000379335;ENST00000379329	.|T;T	.|0.57273	.|0.41;0.6	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.47544|0.47544	0.1451|0.1451	M|M	0.76727|0.76727	2.345|2.345	0.80722|0.80722	D|D	1|1	.|B	.|0.20887	.|0.049	.|B	.|0.22880	.|0.042	T|T	0.49854|0.49854	-0.8895|-0.8895	5|10	.|0.72032	.|D	.|0.01	-18.988|-18.988	19.0064|19.0064	0.92852|0.92852	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|528	.|Q9C0D0	.|PHAR1_HUMAN	S|L	362|528;383;92;92	.|ENSP00000329880:V528L;ENSP00000397669:V383L	.|ENSP00000329880:V528L	R|V	+|+	3|1	2|0	PHACTR1|PHACTR1	13391705|13391705	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.869000|9.869000	0.99810|0.99810	2.738000|2.738000	0.93877|0.93877	0.655000|0.655000	0.94253|0.94253	AGG|GTG		0.597	PHACTR1-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000039878.1		XM_166420	
PLCL2	23228	hgsc.bcm.edu	37	3	17052987	17052988	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr3:17052987_17052988insG	ENST00000418129.2	+	2	2236_2237	c.1771_1772insG	c.(1771-1773)tggfs	p.W591fs	PLCL2_ENST00000396755.2_Frame_Shift_Ins_p.W591fs|PLCL2_ENST00000432376.1_Frame_Shift_Ins_p.W591fs	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	717					B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GAATATTGGCTGGTTTAGGCAG	0.48																																																	0																																										SO:0001589	frameshift_variant	23228			AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.1773dupG	3.37:g.17052989_17052989dupG	ENSP00000409637:p.Trp591fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Frame_Shift_Ins	INS	ENST00000418129.2	37	CCDS33713.1																																																																																				0.480	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			
PLEKHA6	22874	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	204230552	204230552	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr1:204230552A>C	ENST00000272203.3	-	7	722	c.406T>G	c.(406-408)Tac>Gac	p.Y136D	PLEKHA6_ENST00000485632.1_5'UTR|PLEKHA6_ENST00000414478.1_Missense_Mutation_p.Y156D	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	136	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.							p.Y136D(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CTGAAGAAGTAGGTGCGGACC	0.642																																																	1	Substitution - Missense(1)	kidney(1)											44.0	44.0	44.0					1																	204230552		2203	4300	6503	SO:0001583	missense	22874			AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.406T>G	1.37:g.204230552A>C	ENSP00000272203:p.Tyr136Asp	Somatic		WXS	Illumina HiSeq	Phase_I	A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.731356	0.89390	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.17854	2.25;2.25	5.56	5.56	0.83823	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.60379	0.2264	H	0.98646	4.29	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77451	-0.2583	10	0.87932	D	0	-22.6878	15.3812	0.74658	1.0:0.0:0.0:0.0	.	136	Q9Y2H5	PKHA6_HUMAN	D	136;156	ENSP00000272203:Y136D;ENSP00000402046:Y156D	ENSP00000272203:Y136D	Y	-	1	0	PLEKHA6	202497175	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.531000	0.90610	2.103000	0.63969	0.533000	0.62120	TAC		0.642	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3		NM_014935	
PPARGC1B	133522	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	149216300	149216300	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr5:149216300G>A	ENST00000309241.5	+	8	2314	c.2282G>A	c.(2281-2283)cGt>cAt	p.R761H	PPARGC1B_ENST00000403750.1_Missense_Mutation_p.R697H|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.R722H|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.R761H	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	761					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)	p.R761H(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CATGAGATCCGTGCCAGCCTC	0.612																																																	1	Substitution - Missense(1)	kidney(1)											97.0	99.0	98.0					5																	149216300		2203	4300	6503	SO:0001583	missense	133522			AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2282G>A	5.37:g.149216300G>A	ENSP00000312649:p.Arg761His	Somatic		WXS	Illumina HiSeq	Phase_I	A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	ENST00000309241.5	37	CCDS4298.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543723	0.65198	.	.	ENSG00000155846	ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750	T;T;T;T	0.41065	1.05;1.01;1.09;1.03	4.93	4.93	0.64822	.	0.075196	0.53938	D	0.000041	T	0.66597	0.2805	M	0.80332	2.49	0.34754	D	0.732075	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;P;D	0.66497	0.944;0.917;0.944;0.88;0.944	T	0.78578	-0.2150	10	0.87932	D	0	-13.651	18.5082	0.90905	0.0:0.0:1.0:0.0	.	740;740;722;761;761	Q86YN6-2;Q86YN6-4;Q86YN6-5;Q86YN6;Q86YN6-3	.;.;.;PRGC2_HUMAN;.	H	722;761;761;697	ENSP00000353638:R722H;ENSP00000377855:R761H;ENSP00000312649:R761H;ENSP00000384403:R697H	ENSP00000312649:R761H	R	+	2	0	PPARGC1B	149196493	1.000000	0.71417	0.968000	0.41197	0.627000	0.37826	8.054000	0.89451	2.440000	0.82611	0.462000	0.41574	CGT		0.612	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1		NM_133263	
PRSS50	29122	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	46754550	46754550	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr3:46754550C>T	ENST00000460241.1	-	10	2432	c.762G>A	c.(760-762)tgG>tgA	p.W254*	PRSS50_ENST00000315170.7_Nonsense_Mutation_p.W254*			Q9UI38	TSP50_HUMAN	protease, serine, 50	254	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)	p.W254*(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						GGAACTGAGGCCACATGCCTG	0.557																																					Pancreas(41;915 1239 11561 17469)												1	Substitution - Nonsense(1)	kidney(1)											211.0	196.0	201.0					3																	46754550		2203	4300	6503	SO:0001587	stop_gained	29122			AF100707	CCDS2745.1	3p21.31	2011-05-24			ENSG00000206549	ENSG00000206549		"""Serine peptidases / Serine peptidases"""	17910	protein-coding gene	gene with protein product	"""cancer/testis antigen 20"", ""testes specific protease 50"""	607950				10397268	Standard	NM_013270		Approved	TSP50, CT20	uc003cqe.1	Q9UI38	OTTHUMG00000164067	ENST00000460241.1:c.762G>A	3.37:g.46754550C>T	ENSP00000418875:p.Trp254*	Somatic		WXS	Illumina HiSeq	Phase_I		Nonsense_Mutation	SNP	ENST00000460241.1	37	CCDS2745.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026374	0.54683	.	.	ENSG00000206549	ENST00000455218;ENST00000315170;ENST00000460241	.	.	.	3.55	3.55	0.40652	.	0.926087	0.08913	N	0.875584	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	11.0041	0.47624	0.0:1.0:0.0:0.0	.	.	.	.	X	168;254;254	.	ENSP00000326598:W254X	W	-	3	0	PRSS50	46729554	0.982000	0.34865	0.994000	0.49952	0.757000	0.42996	3.233000	0.51311	2.291000	0.77112	0.650000	0.86243	TGG		0.557	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354544.1			
PRUNE2	158471	hgsc.bcm.edu	37	9	79324135	79324136	+	In_Frame_Ins	INS	-	-	TGACTGTTGCAG	rs2307907|rs11267622	byFrequency	TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr9:79324135_79324136insTGACTGTTGCAG	ENST00000376718.3	-	8	3177_3178	c.3054_3055insCTGCAACAGTCA	c.(3052-3057)tcatct>tcaCTGCAACAGTCAtct	p.1017_1018insSLQQ	PRUNE2_ENST00000428286.1_In_Frame_Ins_p.658_659insSLQQ	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1017					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CGATTTCGAGATGACTGTTGCA	0.45														2520	0.503195	0.3427	0.6441	5008	,	,		23395	0.4504		0.5984	False		,,,				2504	0.5767																0										1304,2110		277,750,680						1.3	0.0		dbSNP_120	98	4176,2922		1294,1588,667	no	coding	PRUNE2	NM_015225.2		1571,2338,1347	A1A1,A1R,RR		41.1665,38.1957,47.8691				5480,5032				SO:0001652	inframe_insertion	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.3043_3054dupCTGCAACAGTCA	9.37:g.79324135_79324136insTGACTGTTGCAG	ENSP00000365908:p.Ser1014_Gln1017dup	Somatic		WXS	Illumina HiSeq	Phase_I	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	In_Frame_Ins	INS	ENST00000376718.3	37	CCDS47982.1																																																																																				0.450	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2		NM_138818	
PSD2	84249	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	139193067	139193067	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr5:139193067C>T	ENST00000274710.3	+	3	750	c.545C>T	c.(544-546)cCc>cTc	p.P182L		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	182					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)	p.P182L(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCTCACACCCCTCATCCAG	0.672																																																	1	Substitution - Missense(1)	kidney(1)											37.0	41.0	40.0					5																	139193067		2203	4299	6502	SO:0001583	missense	84249			AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.545C>T	5.37:g.139193067C>T	ENSP00000274710:p.Pro182Leu	Somatic		WXS	Illumina HiSeq	Phase_I	D3DQD3|Q8N3J8	Missense_Mutation	SNP	ENST00000274710.3	37	CCDS4216.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514928	0.85389	.	.	ENSG00000146005	ENST00000274710	T	0.37058	1.22	3.99	3.99	0.46301	.	0.078492	0.50627	D	0.000113	T	0.55609	0.1931	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.60642	-0.7223	10	0.87932	D	0	.	14.7866	0.69808	0.0:1.0:0.0:0.0	.	182	Q9BQI7	PSD2_HUMAN	L	182	ENSP00000274710:P182L	ENSP00000274710:P182L	P	+	2	0	PSD2	139173251	1.000000	0.71417	0.994000	0.49952	0.956000	0.61745	6.693000	0.74582	2.214000	0.71695	0.462000	0.41574	CCC		0.672	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1		NM_032289	
PTPRJ	5795	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	48152101	48152101	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr11:48152101A>G	ENST00000418331.2	+	8	1800	c.1448A>G	c.(1447-1449)cAg>cGg	p.Q483R	PTPRJ_ENST00000440289.2_Missense_Mutation_p.Q483R	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	483	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.Q483R(2)		breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GAATCATTTCAGATGCATATC	0.488																																																	2	Substitution - Missense(2)	kidney(2)											100.0	90.0	93.0					11																	48152101		2201	4298	6499	SO:0001583	missense	5795			U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.1448A>G	11.37:g.48152101A>G	ENSP00000400010:p.Gln483Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	A	2.554	-0.303373	0.05495	.	.	ENSG00000149177	ENST00000418331;ENST00000440289	T;T	0.52526	0.66;0.66	5.71	-4.95	0.03048	Fibronectin, type III (3);Immunoglobulin-like fold (1);	.	.	.	.	T	0.23370	0.0565	N	0.11427	0.14	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.06405	0.0;0.002	T	0.23154	-1.0196	9	0.23891	T	0.37	.	9.8037	0.40779	0.2028:0.0:0.6658:0.1315	.	483;483	Q12913;Q6P4H4	PTPRJ_HUMAN;.	R	483	ENSP00000400010:Q483R;ENSP00000409733:Q483R	ENSP00000400010:Q483R	Q	+	2	0	PTPRJ	48108677	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.979000	0.03774	-0.835000	0.04234	0.533000	0.62120	CAG		0.488	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			
R3HDM1	23518	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	136402959	136402959	+	Silent	SNP	C	C	T	rs376486443		TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr2:136402959C>T	ENST00000264160.4	+	16	1855	c.1485C>T	c.(1483-1485)ttC>ttT	p.F495F	R3HDM1_ENST00000443537.2_3'UTR|R3HDM1_ENST00000410054.1_Silent_p.F439F|R3HDM1_ENST00000329971.3_Silent_p.F366F|R3HDM1_ENST00000409606.1_Silent_p.F495F|R3HDM1_ENST00000409478.1_Silent_p.F366F	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	495							poly(A) RNA binding (GO:0044822)	p.F495F(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		GTCAGCCCTTCATAAACCCAG	0.423																																																	1	Substitution - coding silent(1)	kidney(1)											92.0	93.0	93.0					2																	136402959		2203	4300	6503	SO:0001819	synonymous_variant	23518			D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.1485C>T	2.37:g.136402959C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Silent	SNP	ENST00000264160.4	37	CCDS2177.1	.	.	.	.	.	.	.	.	.	.	C	8.845	0.943073	0.18281	.	.	ENSG00000048991	ENST00000441871;ENST00000429703;ENST00000425804	.	.	.	5.61	4.54	0.55810	.	.	.	.	.	T	0.61048	0.2316	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57659	-0.7773	4	.	.	.	-7.4727	10.1666	0.42884	0.0:0.7947:0.0:0.2053	.	.	.	.	Y	125;184;79	.	.	H	+	1	0	R3HDM1	136119429	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	0.852000	0.27764	2.631000	0.89168	0.655000	0.94253	CAT		0.423	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1		NM_015361	
RACGAP1	29127	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	50384068	50384068	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr12:50384068A>G	ENST00000427314.2	-	19	2105	c.1882T>C	c.(1882-1884)Tct>Cct	p.S628P	RACGAP1_ENST00000434422.1_Missense_Mutation_p.S628P|RACGAP1_ENST00000454520.2_Missense_Mutation_p.S628P|RACGAP1_ENST00000551016.1_Missense_Mutation_p.S628P|RACGAP1_ENST00000548961.1_Intron|RACGAP1_ENST00000547905.1_Missense_Mutation_p.S628P|RACGAP1_ENST00000312377.5_Missense_Mutation_p.S628P	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1									p.S628P(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						AGCATTGGAGAAGCAAAAAAG	0.408																																																	1	Substitution - Missense(1)	kidney(1)											132.0	117.0	122.0					12																	50384068		2203	4300	6503	SO:0001583	missense	29127				CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000427314.2:c.1882T>C	12.37:g.50384068A>G	ENSP00000404190:p.Ser628Pro	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000427314.2	37	CCDS8795.1	.	.	.	.	.	.	.	.	.	.	A	19.22	3.785090	0.70222	.	.	ENSG00000161800	ENST00000427314;ENST00000312377;ENST00000434422;ENST00000454520;ENST00000551016;ENST00000547905	T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28	4.69	3.52	0.40303	.	0.166652	0.56097	D	0.000038	T	0.50222	0.1603	M	0.71036	2.16	0.58432	D	0.999993	D	0.56746	0.977	P	0.55785	0.784	T	0.53549	-0.8423	10	0.87932	D	0	-4.6206	11.3845	0.49776	0.8423:0.1577:0.0:0.0	.	628	Q9H0H5	RGAP1_HUMAN	P	628	ENSP00000404190:S628P;ENSP00000309871:S628P;ENSP00000413241:S628P;ENSP00000404808:S628P;ENSP00000449374:S628P;ENSP00000449370:S628P	ENSP00000309871:S628P	S	-	1	0	RACGAP1	48670335	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.602000	0.67612	0.730000	0.32425	0.460000	0.39030	TCT		0.408	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405997.1		NM_013277	
RFC1	5981	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	39308288	39308289	+	Missense_Mutation	DNP	CC	CC	AA	rs1057749|rs1135544|rs374867437		TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr4:39308288_39308289CC>AA	ENST00000381897.1	-	14	2054_2055	c.1921_1922GG>TT	c.(1921-1923)GGc>TTc	p.G641F	RFC1_ENST00000349703.2_Missense_Mutation_p.G640F	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	641				G -> N (in Ref. 2, 3 and 4). {ECO:0000305}.	DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)	p.G641C(1)|p.G641>?(1)|p.G641V(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						AAAACTAGAGCCATCATCTTTG	0.47																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)												3	Substitution - Missense(2)|Complex(1)	kidney(3)																																								SO:0001583	missense	5981			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.1921_1922delinsAA	4.37:g.39308288_39308289delinsAA	ENSP00000371321:p.Gly641Phe	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	CCDS56329.1																																																																																				0.470	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1		NM_002913	
RUNX3	864	broad.mit.edu;hgsc.bcm.edu	37	1	25256188	25256188	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr1:25256188C>G	ENST00000308873.6	-	1	180	c.172G>C	c.(172-174)Gtg>Ctg	p.V58L	RUNX3_ENST00000338888.3_Missense_Mutation_p.V72L|RUNX3_ENST00000399916.1_Missense_Mutation_p.V72L|RUNX3_ENST00000496967.1_5'Flank|RUNX3_ENST00000540420.1_5'Flank	NM_004350.2	NP_004341.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	58	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				axon guidance (GO:0007411)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|hair follicle morphogenesis (GO:0031069)|interferon-gamma production (GO:0032609)|negative regulation of cell cycle (GO:0045786)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system neuron development (GO:0048935)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V72L(1)|p.V58L(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		TCCGCCAGCACGTCCACCATC	0.746																																																	2	Substitution - Missense(2)	kidney(2)											25.0	21.0	23.0					1																	25256188		2197	4295	6492	SO:0001583	missense	864			BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633			10473	protein-coding gene	gene with protein product		600210		CBFA3		7835892	Standard	NM_001031680		Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000308873.6:c.172G>C	1.37:g.25256188C>G	ENSP00000308051:p.Val58Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B1AJV5|Q12969|Q13760	Missense_Mutation	SNP	ENST00000308873.6	37	CCDS257.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069968	0.55539	.	.	ENSG00000020633	ENST00000399916;ENST00000308873;ENST00000338888;ENST00000428150	D;D;D	0.99394	-5.82;-5.82;-5.82	3.23	2.31	0.28768	Acute myeloid leukemia 1 (AML 1)/Runt (2);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.077825	0.50627	N	0.000113	D	0.95834	0.8644	N	0.08118	0	0.80722	D	1	B;B;B;B	0.21147	0.006;0.042;0.052;0.003	B;B;B;B	0.30029	0.014;0.067;0.11;0.059	D	0.91583	0.5280	10	0.27785	T	0.31	-12.9325	8.9443	0.35749	0.0:0.8848:0.0:0.1152	.	58;72;72;58	E9PH34;Q13761-2;B1AJV5;Q13761	.;.;.;RUNX3_HUMAN	L	72;58;72;58	ENSP00000382800:V72L;ENSP00000308051:V58L;ENSP00000343477:V72L	ENSP00000308051:V58L	V	-	1	0	RUNX3	25128775	1.000000	0.71417	0.996000	0.52242	0.002000	0.02628	4.348000	0.59379	0.564000	0.29238	-0.339000	0.08088	GTG		0.746	RUNX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009284.1		NM_004350	
SHROOM4	57477	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	50341293	50341293	+	Silent	SNP	G	G	A			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chrX:50341293G>A	ENST00000289292.7	-	8	4468	c.4185C>T	c.(4183-4185)agC>agT	p.S1395S	SHROOM4_ENST00000376020.2_Silent_p.S1395S|SHROOM4_ENST00000483955.1_5'Flank|SHROOM4_ENST00000460112.3_Silent_p.S1279S			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1395	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)	p.S1395S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CTGAATCGATGCTGTTCAGAG	0.517																																																	1	Substitution - coding silent(1)	kidney(1)											87.0	69.0	75.0					X																	50341293		2203	4300	6503	SO:0001819	synonymous_variant	57477			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.4185C>T	X.37:g.50341293G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A7E2X9|D6RFW0|Q96LA0	Silent	SNP	ENST00000289292.7	37	CCDS35277.1																																																																																				0.517	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4		NM_020717	
SLC38A10	124565	hgsc.bcm.edu	37	17	79225074	79225075	+	Intron	INS	-	-	T	rs142504417|rs386799869|rs147245242	byFrequency	TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr17:79225074_79225075insT	ENST00000374759.3	-	14	2449				SLC38A10_ENST00000288439.5_Frame_Shift_Ins_p.H762fs	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10						amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TGCCGCAGGTGTTTAAAGGGGA	0.515													TTT|TTT|TTTT|insertion	425	0.0848642	0.2625	0.0418	5008	,	,		17888	0.0		0.0388	False		,,,				2504	0.0102																0									,	811,3449		102,607,1421					,	-3.9	0.0		dbSNP_134	67	326,7926		9,308,3809	no	frameshift,intron	SLC38A10	NM_138570.2,NM_001037984.1	,	111,915,5230	A1A1,A1R,RR		3.9506,19.0376,9.0873	,	,		1137,11375				SO:0001627	intron_variant	124565			BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.2065+217->A	17.37:g.79225077_79225077dupT		Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZRC5|Q8NA99|Q96C66	Frame_Shift_Ins	INS	ENST00000374759.3	37	CCDS42397.1																																																																																				0.515	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1		NM_138570	
SPHKAP	80309	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	228883287	228883287	+	Silent	SNP	A	A	G			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr2:228883287A>G	ENST00000392056.3	-	7	2329	c.2283T>C	c.(2281-2283)gcT>gcC	p.A761A	SPHKAP_ENST00000344657.5_Silent_p.A761A	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	761						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.A761A(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTTTTGTCCAAGCTTGACTAG	0.488																																																	2	Substitution - coding silent(2)	kidney(2)											165.0	165.0	165.0					2																	228883287		2203	4300	6503	SO:0001819	synonymous_variant	80309				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2283T>C	2.37:g.228883287A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	CCDS46537.1																																																																																				0.488	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1		NM_030623	
STXBP1	6812	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	130413898	130413898	+	Silent	SNP	G	G	T			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr9:130413898G>T	ENST00000373299.1	+	2	169	c.54G>T	c.(52-54)gtG>gtT	p.V18V	STXBP1_ENST00000373302.3_Silent_p.V18V	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	18					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)	p.V18V(2)		breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TGCATGATGTGATAAAGAAGG	0.383																																																	2	Substitution - coding silent(2)	kidney(2)											127.0	126.0	127.0					9																	130413898		2203	4300	6503	SO:0001819	synonymous_variant	6812			AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.54G>T	9.37:g.130413898G>T		Somatic		WXS	Illumina HiSeq	Phase_I	B1AM97|Q28208|Q62759|Q64320|Q96TG8	Silent	SNP	ENST00000373299.1	37	CCDS35146.1																																																																																				0.383	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1		NM_003165	
TECTB	6975	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	114046095	114046095	+	Silent	SNP	G	G	A			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr10:114046095G>A	ENST00000369422.3	+	4	429	c.429G>A	c.(427-429)gtG>gtA	p.V143V		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	143	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.V143V(1)		kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		CTGTTCACGTGAAGAACGGGA	0.498																																																	1	Substitution - coding silent(1)	kidney(1)											133.0	112.0	119.0					10																	114046095		2203	4300	6503	SO:0001819	synonymous_variant	6975			AF312827	CCDS7571.1	10q25-q26	2005-06-09			ENSG00000119913	ENSG00000119913			11721	protein-coding gene	gene with protein product		602653				9079715	Standard	NM_058222		Approved		uc001kzr.1	Q96PL2	OTTHUMG00000019056	ENST00000369422.3:c.429G>A	10.37:g.114046095G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q5VW53	Silent	SNP	ENST00000369422.3	37	CCDS7571.1																																																																																				0.498	TECTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050381.1		NM_058222	
TENC1	23371	hgsc.bcm.edu;ucsc.edu	37	12	53453522	53453531	+	Frame_Shift_Del	DEL	GCCTACAGCA	GCCTACAGCA	-			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	GCCTACAGCA	GCCTACAGCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr12:53453522_53453531delGCCTACAGCA	ENST00000314250.6	+	18	2387_2396	c.2097_2106delGCCTACAGCA	c.(2095-2106)ctgcctacagcafs	p.LPTA699fs	TENC1_ENST00000552570.1_Frame_Shift_Del_p.LPTA699fs|TENC1_ENST00000314276.3_Frame_Shift_Del_p.LPTA709fs|TENC1_ENST00000549700.1_Frame_Shift_Del_p.LPTA699fs|TENC1_ENST00000379902.3_Frame_Shift_Del_p.LPTA575fs|TENC1_ENST00000451358.1_Splice_Site|TENC1_ENST00000546602.1_Frame_Shift_Del_p.LPTA699fs	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	699					cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						AGCTGGCGCTGCCTACAGCAGCCTTGTATG	0.676																																																	0																																										SO:0001589	frameshift_variant	23371			AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.2097_2106delGCCTACAGCA	12.37:g.53453522_53453531delGCCTACAGCA	ENSP00000319684:p.Leu699fs	Somatic		WXS	Illumina HiSeq	Phase_I	A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Frame_Shift_Del	DEL	ENST00000314250.6	37	CCDS8843.1																																																																																				0.676	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1		NM_170754	
TMEM81	388730	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	205053016	205053016	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr1:205053016C>A	ENST00000367167.3	-	1	629	c.433G>T	c.(433-435)Gtg>Ttg	p.V145L		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	145	Ig-like.					integral component of membrane (GO:0016021)		p.V145L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TTAAACTTCACAAAGTGGGAG	0.468																																																	1	Substitution - Missense(1)	kidney(1)											79.0	86.0	84.0					1																	205053016		2203	4300	6503	SO:0001583	missense	388730			BC061592	CCDS1450.1	1q32.1	2013-01-11			ENSG00000174529	ENSG00000174529		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32349	protein-coding gene	gene with protein product							Standard	NM_203376		Approved	UNQ2788, MGC75217, HC3107, KVLA2788	uc001hbt.3	Q6P7N7	OTTHUMG00000037103	ENST00000367167.3:c.433G>T	1.37:g.205053016C>A	ENSP00000356135:p.Val145Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q6UVZ4	Missense_Mutation	SNP	ENST00000367167.3	37	CCDS1450.1	.	.	.	.	.	.	.	.	.	.	C	6.358	0.434208	0.12045	.	.	ENSG00000174529	ENST00000367167	T	0.19105	2.17	5.93	-1.67	0.08238	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.533478	0.18515	N	0.138946	T	0.10551	0.0258	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.18524	-1.0334	10	0.34782	T	0.22	-16.6803	0.3309	0.00318	0.2303:0.3008:0.1918:0.2771	.	145	Q6P7N7	TMM81_HUMAN	L	145	ENSP00000356135:V145L	ENSP00000356135:V145L	V	-	1	0	TMEM81	203319639	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.362000	0.07602	-0.303000	0.08856	-0.152000	0.13540	GTG		0.468	TMEM81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090076.1		NM_203376	
TMPRSS9	360200	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	2418067	2418067	+	Silent	SNP	C	C	T			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr19:2418067C>T	ENST00000332578.3	+	12	1983	c.1983C>T	c.(1981-1983)ctC>ctT	p.L661L		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	661	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.L661L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)|STAD - Stomach adenocarcinoma(1328;0.18)		GTAGTGTGCTCTACAACTTCT	0.562																																																	1	Substitution - coding silent(1)	kidney(1)											192.0	177.0	182.0					19																	2418067		2203	4300	6503	SO:0001819	synonymous_variant	360200			AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.1983C>T	19.37:g.2418067C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZND6|Q7Z411	Silent	SNP	ENST00000332578.3	37	CCDS12088.1																																																																																				0.562	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3		NM_182973	
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191508	10191511	+	Frame_Shift_Del	DEL	GAGC	GAGC	-	rs398123483		TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	GAGC	GAGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr3:10191508_10191511delGAGC	ENST00000256474.2	+	3	1341_1344	c.501_504delGAGC	c.(499-504)cggagcfs	p.RS167fs	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Frame_Shift_Del_p.RS126fs	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	167			R -> G (in VHLD; type I-II). {ECO:0000269|PubMed:9829911}.|R -> Q (in pheochromocytoma and VHLD; type II; common mutation; dbSNP:rs5030821). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|R -> W (in pheochromocytoma and VHLD; type II; common mutation; dbSNP:rs5030820). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:8592333, ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S168fs*2(4)|p.S168fs*3(1)|p.L169_V170del(1)|p.V166fs*6(1)|p.R167fs*6(1)|p.V170fs*31(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		AGGTTGTCCGGAGCCTAGTCAAGC	0.515		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	9	Deletion - Frameshift(8)|Deletion - In frame(1)	kidney(9)	GRCh37	CD004317|CI951987	VHL	D|I																																				SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.501_504delGAGC	3.37:g.10191508_10191511delGAGC	ENSP00000256474:p.Arg167fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.515	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
WHSC1L1	54904	hgsc.bcm.edu;ucsc.edu	37	8	38139060	38139060	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr8:38139060delT	ENST00000317025.8	-	20	4060	c.3543delA	c.(3541-3543)gaafs	p.E1183fs	WHSC1L1_ENST00000433384.2_Frame_Shift_Del_p.E1134fs|WHSC1L1_ENST00000527502.1_Frame_Shift_Del_p.E1183fs	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	1183	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.E1181E(1)		NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TGCATTCTTCTTCATCAATTA	0.308			T	NUP98	AML																																			Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	1	Substitution - coding silent(1)	kidney(1)											109.0	96.0	100.0					8																	38139060		1837	4087	5924	SO:0001589	frameshift_variant	54904			AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.3543delA	8.37:g.38139060delT	ENSP00000313983:p.Glu1183fs	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Frame_Shift_Del	DEL	ENST00000317025.8	37	CCDS43729.1																																																																																				0.308	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3		NM_023034	
DISP2	85455	broad.mit.edu	37	15	40660395	40660395	+	Silent	SNP	G	G	A			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr15:40660395G>A	ENST00000267889.3	+	8	2169	c.2082G>A	c.(2080-2082)ctG>ctA	p.L694L	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	694					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)		p.L694L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TCCAGCGCCTGCTGCCCTGCG	0.736																																																	1	Substitution - coding silent(1)	kidney(1)											12.0	12.0	12.0					15																	40660395		2187	4273	6460	SO:0001819	synonymous_variant	85455			AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.2082G>A	15.37:g.40660395G>A		Somatic		WXS	Illumina GAIIx	Phase_I	Q6AHW3|Q9C0C1	Silent	SNP	ENST00000267889.3	37	CCDS10056.1																																																																																				0.736	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1		NM_033510	
ZNF280D	54816	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	56993407	56993407	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr15:56993407A>G	ENST00000267807.7	-	5	421	c.205T>C	c.(205-207)Tat>Cat	p.Y69H	ZNF280D_ENST00000396245.1_5'UTR|ZNF280D_ENST00000559000.1_Missense_Mutation_p.Y56H|ZNF280D_ENST00000559237.1_Missense_Mutation_p.Y56H|ZNF280D_ENST00000558320.1_Missense_Mutation_p.Y69H	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	69					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.Y69H(1)		endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		CCCCTTGAATATGAGCTGGGG	0.254																																																	1	Substitution - Missense(1)	kidney(1)											14.0	14.0	14.0					15																	56993407		2184	4269	6453	SO:0001583	missense	54816			AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 4 (Drosophila)"""	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.205T>C	15.37:g.56993407A>G	ENSP00000267807:p.Tyr69His	Somatic		WXS	Illumina HiSeq	Phase_I	A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Missense_Mutation	SNP	ENST00000267807.7	37	CCDS32245.1	.	.	.	.	.	.	.	.	.	.	A	8.686	0.906273	0.17760	.	.	ENSG00000137871	ENST00000267807;ENST00000455329	T	0.21932	1.98	5.37	4.25	0.50352	.	4.700340	0.00659	N	0.000585	T	0.15869	0.0382	N	0.14661	0.345	0.80722	D	1	B;B;B	0.14012	0.009;0.005;0.005	B;B;B	0.21917	0.037;0.009;0.025	T	0.14755	-1.0461	10	0.15499	T	0.54	-13.1912	8.9053	0.35519	0.8395:0.0:0.1605:0.0	.	69;132;69	Q7Z6J5;B4DHL1;Q6N043	.;.;Z280D_HUMAN	H	69;56	ENSP00000267807:Y69H	ENSP00000267807:Y69H	Y	-	1	0	ZNF280D	54780699	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	2.854000	0.48325	0.995000	0.38917	0.477000	0.44152	TAT		0.254	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2		XM_370867	
GNAS	2778	broad.mit.edu	37	20	57429540	57429540	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	C	C	C	C	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr20:57429540C>G	ENST00000371100.4	+	1	1772	c.1220C>G	c.(1219-1221)aCc>aGc	p.T407S	GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.T407S|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000306120.3_Missense_Mutation_p.P344A|GNAS_ENST00000371099.2_Missense_Mutation_p.T407S	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.T407S(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TCCGGGGCAACCCCAGAAGAT	0.726			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	E	1	Substitution - Missense(1)	kidney(1)											4.0	7.0	6.0					20																	57429540		1951	4061	6012	SO:0001583	missense	2778			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.1220C>G	20.37:g.57429540C>G	ENSP00000360141:p.Thr407Ser	Somatic		WXS	Illumina GAIIx	Phase_I	A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371100.4	37	CCDS46622.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.55|15.55	2.867129|2.867129	0.51588|0.51588	.|.	.|.	ENSG00000087460|ENSG00000087460	ENST00000306120|ENST00000371099;ENST00000371100;ENST00000371102	.|D;D	.|0.88277	.|-2.36;-2.36	4.37|4.37	4.37|4.37	0.52481|0.52481	.|.	.|3.008120	.|0.01538	.|N	.|0.019090	T|T	0.81973|0.81973	0.4936|0.4936	N|N	0.08118|0.08118	0|0	0.50632|0.50632	D|D	0.999886|0.999886	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.43782|0.43782	-0.9370|-0.9370	6|10	0.49607|0.21014	T|T	0.09|0.42	.|.	15.176|15.176	0.72913|0.72913	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|407	.|Q5JWF2	.|GNAS1_HUMAN	A|S	344|407	.|ENSP00000360141:T407S;ENSP00000360143:T407S	ENSP00000302237:P344A|ENSP00000360140:T407S	P|T	+|+	1|2	0|0	GNAS|GNAS	56862935|56862935	0.012000|0.012000	0.17670|0.17670	0.006000|0.006000	0.13384|0.13384	0.248000|0.248000	0.25809|0.25809	0.720000|0.720000	0.25896|0.25896	2.363000|2.363000	0.80096|0.80096	0.462000|0.462000	0.41574|0.41574	CCC|ACC		0.726	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3		NM_000516	
FAM86FP	653113	broad.mit.edu	37	12	8384525	8384525	+	RNA	SNP	G	G	T	rs370551642		TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr12:8384525G>T	ENST00000427893.2	-	0	829				AC092111.1_ENST00000583174.1_RNA					family with sequence similarity 86, member F, pseudogene																		AAGCTGTGGTGGGCCCTGATT	0.562																																																	0																																												0					12p13.31	2011-07-01			ENSG00000164845	ENSG00000164845			42357	pseudogene	pseudogene							Standard	NR_024254		Approved		uc010sgk.2		OTTHUMG00000168639		12.37:g.8384525G>T		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000427893.2	37																																																																																					0.562	FAM86FP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400463.1			
RERE	473	broad.mit.edu	37	1	8420609	8420609	+	Silent	SNP	T	T	G	rs578199349		TCGA-BP-5192-01A-01D-1429-08	TCGA-BP-5192-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4db23b76-46dd-4ed9-a168-fee43b2fc7d7	1112896b-009d-48ae-a579-55290043345a	g.chr1:8420609T>G	ENST00000337907.3	-	19	3592	c.2958A>C	c.(2956-2958)ccA>ccC	p.P986P	RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_Silent_p.P432P|RERE_ENST00000400908.2_Silent_p.P986P|RERE_ENST00000377464.1_Silent_p.P718P	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	986	Pro-rich.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P986P(4)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GTTGCAGGGGTGGGGGGTGAG	0.706																																																	4	Substitution - coding silent(4)	kidney(2)|prostate(1)|lung(1)											11.0	14.0	13.0					1																	8420609		1946	3883	5829	SO:0001819	synonymous_variant	473			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.2958A>C	1.37:g.8420609T>G		Somatic		WXS	Illumina GAIIx	Phase_I	O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Silent	SNP	ENST00000337907.3	37	CCDS95.1																																																																																				0.706	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			
