#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ABCB11	8647	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	169869900	169869900	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr2:169869900T>C	ENST00000263817.6	-	5	395	c.271A>G	c.(271-273)Att>Gtt	p.I91V		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	91	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)	p.I91V(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TCGTAGTCAATAAAAACATCT	0.428																																																	1	Substitution - Missense(1)	kidney(1)											193.0	184.0	187.0					2																	169869900		1890	4129	6019	SO:0001583	missense	8647			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.271A>G	2.37:g.169869900T>C	ENSP00000263817:p.Ile91Val		Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	T	1.340	-0.594352	0.03771	.	.	ENSG00000073734	ENST00000263817	T	0.80123	-1.34	5.41	2.95	0.34219	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.091654	0.64402	N	0.000001	T	0.58836	0.2150	N	0.11284	0.12	0.50171	D	0.999858	B	0.09022	0.002	B	0.17979	0.02	T	0.45818	-0.9235	10	0.06891	T	0.86	.	9.981	0.41813	0.0:0.1402:0.0:0.8598	.	91	O95342	ABCBB_HUMAN	V	91	ENSP00000263817:I91V	ENSP00000263817:I91V	I	-	1	0	ABCB11	169578146	1.000000	0.71417	0.991000	0.47740	0.636000	0.38137	1.689000	0.37700	0.327000	0.23409	0.454000	0.30748	ATT		0.428	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2		NM_003742	
ADAMTSL2	9719	broad.mit.edu;ucsc.edu	37	9	136412244	136412244	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr9:136412244T>C	ENST00000354484.4	+	9	1405	c.848T>C	c.(847-849)gTg>gCg	p.V283A	ADAMTSL2_ENST00000393061.3_Missense_Mutation_p.V392A|ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.V283A	NM_001145320.1	NP_001138792.1	Q86TH1	ATL2_HUMAN	ADAMTS-like 2	283					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.V283A(1)		kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		GCAGGCACGGTGGTCAAGTAC	0.562																																																	1	Substitution - Missense(1)	kidney(1)											192.0	180.0	184.0					9																	136412244		2203	4300	6503	SO:0001583	missense	9719			AB011177	CCDS6976.1	9q34.3	2005-01-12			ENSG00000197859	ENSG00000197859			14631	protein-coding gene	gene with protein product		612277				9628581, 14667842	Standard	NM_014694		Approved	KIAA0605	uc004cei.3	Q86TH1	OTTHUMG00000131706	ENST00000354484.4:c.848T>C	9.37:g.136412244T>C	ENSP00000346478:p.Val283Ala		B1B0D5|O60345	Missense_Mutation	SNP	ENST00000354484.4	37	CCDS6976.1	.	.	.	.	.	.	.	.	.	.	T	18.68	3.676919	0.67928	.	.	ENSG00000197859	ENST00000354484;ENST00000393061;ENST00000393060	T;T;T	0.54479	0.57;0.57;0.57	5.16	5.16	0.70880	ADAM-TS Spacer 1 (1);	0.192781	0.31747	N	0.007133	T	0.53481	0.1799	M	0.68317	2.08	0.48696	D	0.999693	B	0.30584	0.286	B	0.35859	0.212	T	0.50575	-0.8812	10	0.18710	T	0.47	.	14.9878	0.71362	0.0:0.0:0.0:1.0	.	283	Q86TH1	ATL2_HUMAN	A	283;392;283	ENSP00000346478:V283A;ENSP00000376781:V392A;ENSP00000376780:V283A	ENSP00000346478:V283A	V	+	2	0	ADAMTSL2	135402065	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.920000	0.87521	1.931000	0.55961	0.459000	0.35465	GTG		0.562	ADAMTSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254619.1		NM_014694	
ADCY3	109	broad.mit.edu;ucsc.edu	37	2	25050900	25050900	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr2:25050900A>T	ENST00000260600.5	-	13	3154	c.2303T>A	c.(2302-2304)cTg>cAg	p.L768Q	ADCY3_ENST00000450524.1_5'UTR|ADCY3_ENST00000405392.1_Intron|RP11-443B20.1_ENST00000606114.1_RNA	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	768					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.L768Q(1)		NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GACCTGCACCAGCATGATGGT	0.587											OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											107.0	82.0	91.0					2																	25050900		2203	4300	6503	SO:0001583	missense	109			AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.2303T>A	2.37:g.25050900A>T	ENSP00000260600:p.Leu768Gln	776	B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.960771	0.92791	.	.	ENSG00000138031	ENST00000260600;ENST00000415879;ENST00000455323;ENST00000450524	T;T;T	0.73469	-0.75;-0.75;-0.75	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000001	T	0.74183	0.3683	L	0.56769	1.78	0.80722	D	1	P;P	0.50617	0.874;0.937	B;P	0.45138	0.391;0.471	T	0.77744	-0.2473	10	0.56958	D	0.05	.	14.9788	0.71296	1.0:0.0:0.0:0.0	.	768;768	B7ZLX9;O60266	.;ADCY3_HUMAN	Q	768;743;107;111	ENSP00000260600:L768Q;ENSP00000402008:L107Q;ENSP00000410972:L111Q	ENSP00000260600:L768Q	L	-	2	0	ADCY3	24904404	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.043000	0.93799	2.200000	0.70718	0.459000	0.35465	CTG		0.587	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			
ALMS1	7840	broad.mit.edu	37	2	73680749	73680749	+	Silent	SNP	A	A	G			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr2:73680749A>G	ENST00000264448.6	+	8	7203	c.7092A>G	c.(7090-7092)gaA>gaG	p.E2364E	ALMS1_ENST00000377715.1_Silent_p.E2364E|ALMS1_ENST00000409009.1_Silent_p.E2322E	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2364					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.E2364E(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTCTACAGGAAGCAGAGAGCA	0.418																																																	1	Substitution - coding silent(1)	kidney(1)											71.0	65.0	67.0					2																	73680749		1879	4119	5998	SO:0001819	synonymous_variant	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.7092A>G	2.37:g.73680749A>G			Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	CCDS42697.1																																																																																				0.418	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1		NM_015120	
ALPK3	57538	hgsc.bcm.edu;ucsc.edu	37	15	85407697	85407697	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr15:85407697delC	ENST00000258888.5	+	12	5297	c.5130delC	c.(5128-5130)tacfs	p.Y1710fs		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1710	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ATCTGATCTACCGGCCTGCAA	0.532																																																	0													103.0	92.0	96.0					15																	85407697		2203	4299	6502	SO:0001589	frameshift_variant	57538			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.5130delC	15.37:g.85407697delC	ENSP00000258888:p.Tyr1710fs		Q9P2L6	Frame_Shift_Del	DEL	ENST00000258888.5	37	CCDS10333.1																																																																																				0.532	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1		NM_020778	
ANGPT4	51378	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	896710	896710	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr20:896710G>A	ENST00000381922.3	-	1	250	c.148C>T	c.(148-150)Ccc>Tcc	p.P50S	ANGPT4_ENST00000546022.1_Missense_Mutation_p.P50S	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	50					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.P50S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TCAGACTTGGGCAGCAAGAAG	0.612																																					Pancreas(181;481 2077 3259 31286 49856)												1	Substitution - Missense(1)	kidney(1)											115.0	111.0	113.0					20																	896710		2203	4300	6503	SO:0001583	missense	51378			AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.148C>T	20.37:g.896710G>A	ENSP00000371347:p.Pro50Ser		B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	ENST00000381922.3	37	CCDS13009.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578707	0.46006	.	.	ENSG00000101280	ENST00000381922;ENST00000546022	T;T	0.13538	2.58;2.58	4.57	3.62	0.41486	.	0.000000	0.45126	D	0.000385	T	0.20577	0.0495	M	0.74647	2.275	0.45594	D	0.998539	D;P	0.56968	0.978;0.901	P;B	0.47134	0.539;0.406	T	0.01810	-1.1269	10	0.62326	D	0.03	.	8.2372	0.31634	0.108:0.0:0.892:0.0	.	50;50	B4E3J9;Q9Y264	.;ANGP4_HUMAN	S	50	ENSP00000371347:P50S;ENSP00000439605:P50S	ENSP00000371347:P50S	P	-	1	0	ANGPT4	844710	1.000000	0.71417	0.873000	0.34254	0.232000	0.25224	5.750000	0.68712	1.151000	0.42436	0.305000	0.20034	CCC		0.612	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1		NM_015985	
ARFGEF2	10564	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	47604916	47604916	+	Silent	SNP	C	C	T			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr20:47604916C>T	ENST00000371917.4	+	17	2352	c.2352C>T	c.(2350-2352)caC>caT	p.H784H		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	784	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)	p.H784H(1)		breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CAGACTTGCACAGTCCTCAGG	0.348																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)												1	Substitution - coding silent(1)	kidney(1)											69.0	56.0	61.0					20																	47604916		2203	4300	6503	SO:0001819	synonymous_variant	10564			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.2352C>T	20.37:g.47604916C>T			Q5TFT9|Q9NTS1	Silent	SNP	ENST00000371917.4	37	CCDS13411.1																																																																																				0.348	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1		NM_006420	
ARIH1	25820	broad.mit.edu	37	15	72873082	72873082	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr15:72873082C>A	ENST00000379887.4	+	12	1540	c.1226C>A	c.(1225-1227)gCa>gAa	p.A409E	ARIH1_ENST00000562891.1_3'UTR	NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	409					cytokine-mediated signaling pathway (GO:0019221)|protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ubiquitin ligase complex (GO:0000151)	small conjugating protein ligase activity (GO:0019787)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A409E(4)		endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						CGATCTAGGGCAGCCCTGCAG	0.383																																																	4	Substitution - Missense(4)	prostate(2)|kidney(2)											57.0	49.0	52.0					15																	72873082		2198	4297	6495	SO:0001583	missense	25820			AF072832	CCDS10244.1	15q24	2013-10-03	2013-10-03		ENSG00000166233	ENSG00000166233			689	protein-coding gene	gene with protein product	"""ariadne, Drosophila, homolog of"""	605624	"""ariadne (Drosophila) homolog, ubiquitin-conjugating enzyme E2-binding protein, 1"", ""ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila)"""			10521492, 24058416	Standard	NM_005744		Approved	HARI, HHARI, UBCH7BP, ARI	uc002aut.4	Q9Y4X5	OTTHUMG00000133474	ENST00000379887.4:c.1226C>A	15.37:g.72873082C>A	ENSP00000369217:p.Ala409Glu		B2R6U3|O76026|Q9H3T6|Q9UEN0|Q9UP39	Missense_Mutation	SNP	ENST00000379887.4	37	CCDS10244.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155042	0.78114	.	.	ENSG00000166233	ENST00000379887;ENST00000299305	D	0.83673	-1.75	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.78629	0.4313	L	0.43701	1.375	0.80722	D	1	B	0.32467	0.372	B	0.23018	0.043	T	0.77225	-0.2666	10	0.54805	T	0.06	.	20.0756	0.97742	0.0:1.0:0.0:0.0	.	409	Q9Y4X5	ARI1_HUMAN	E	409;379	ENSP00000369217:A409E	ENSP00000299305:A379E	A	+	2	0	ARIH1	70660136	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.394000	0.79862	2.763000	0.94921	0.650000	0.86243	GCA		0.383	ARIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257350.1		NM_005744	
ASAP1	50807	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	131136342	131136342	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr8:131136342C>G	ENST00000518721.1	-	18	1751	c.1524G>C	c.(1522-1524)aaG>aaC	p.K508N	ASAP1_ENST00000357668.1_Missense_Mutation_p.K508N	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	508	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.K508N(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TTCCTACATTCTTGGCCAGCT	0.328																																																	1	Substitution - Missense(1)	kidney(1)											80.0	90.0	86.0					8																	131136342		2203	4300	6503	SO:0001583	missense	50807			AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.1524G>C	8.37:g.131136342C>G	ENSP00000429900:p.Lys508Asn		B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	CCDS6362.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.4|22.4	4.281169|4.281169	0.80692|0.80692	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000524124|ENST00000343135;ENST00000357668;ENST00000518721	.|T;T	.|0.46451	.|0.87;0.87	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	.|0.199162	.|0.51477	.|D	.|0.000092	T|T	0.61776|0.61776	0.2374|0.2374	L|L	0.50993|0.50993	1.605|1.605	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.987;0.987;0.999	T|T	0.58747|0.58747	-0.7582|-0.7582	5|10	.|0.54805	.|T	.|0.06	.|.	19.3813|19.3813	0.94536|0.94536	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|508;508;511	.|B2RNV3;Q9ULH1;Q9ULH1-2	.|.;ASAP1_HUMAN;.	Q|N	329|511;508;508	.|ENSP00000350297:K508N;ENSP00000429900:K508N	.|ENSP00000344591:K511N	E|K	-|-	1|3	0|2	ASAP1|ASAP1	131205524|131205524	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.440000|7.440000	0.80464|0.80464	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	GAA|AAG		0.328	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1		NM_018482	
BAZ2B	29994	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	160245882	160245882	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr2:160245882C>G	ENST00000392783.2	-	21	3685	c.3190G>C	c.(3190-3192)Gaa>Caa	p.E1064Q	BAZ2B_ENST00000355831.2_Missense_Mutation_p.E1030Q|BAZ2B_ENST00000392782.1_Missense_Mutation_p.E1028Q|AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E964Q	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1064					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E1064Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CACATGTCTTCATTAGGCTTC	0.333																																																	1	Substitution - Missense(1)	kidney(1)											245.0	225.0	231.0					2																	160245882		1854	4105	5959	SO:0001583	missense	29994			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.3190G>C	2.37:g.160245882C>G	ENSP00000376534:p.Glu1064Gln		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	CCDS2209.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.9|27.9	4.877326|4.877326	0.91664|0.91664	.|.	.|.	ENSG00000123636|ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439|ENST00000294905	T;T;T;T|.	0.29917|.	1.55;1.55;1.55;2.28|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	0.000000|.	0.38058|.	U|.	0.001839|.	T|.	0.75982|.	0.3924|.	M|M	0.71206|0.71206	2.165|2.165	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.85130|.	0.997;0.997|.	T|.	0.74881|.	-0.3513|.	10|.	0.87932|.	D|.	0|.	-16.9736|-16.9736	19.2239|19.2239	0.93810|0.93810	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1028;1064|.	Q9UIF8-5;Q9UIF8|.	.;BAZ2B_HUMAN|.	Q|S	1028;1064;1030;964|124	ENSP00000376533:E1028Q;ENSP00000376534:E1064Q;ENSP00000348087:E1030Q;ENSP00000339670:E964Q|.	ENSP00000339670:E964Q|.	E|X	-|-	1|2	0|2	BAZ2B|BAZ2B	159954128|159954128	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.818000|7.818000	0.86416|0.86416	2.562000|2.562000	0.86427|0.86427	0.591000|0.591000	0.81541|0.81541	GAA|TGA		0.333	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			
CCDC181	57821	hgsc.bcm.edu;ucsc.edu	37	1	169394116	169394117	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr1:169394116_169394117insC	ENST00000367806.3	-	2	201_202	c.49_50insG	c.(49-51)gatfs	p.D17fs	CCDC181_ENST00000545005.1_Frame_Shift_Ins_p.D17fs|CCDC181_ENST00000367805.3_Frame_Shift_Ins_p.D17fs|CCDC181_ENST00000491570.1_5'UTR	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	17						nucleus (GO:0005634)											TTCAAAGTCATCTTCGTATTCT	0.287																																																	0																																										SO:0001589	frameshift_variant	57821			AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.50dupG	1.37:g.169394117_169394117dupC	ENSP00000356780:p.Asp17fs		O60780|Q53FD5|Q5TID9|Q8TC48	Frame_Shift_Ins	INS	ENST00000367806.3	37																																																																																					0.287	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1		NM_021179	
SYCE3	644186	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	50994825	50994825	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr22:50994825C>A	ENST00000406915.3	-	2	57	c.10G>T	c.(10-12)Gct>Tct	p.A4S	SYCE3_ENST00000402753.1_Missense_Mutation_p.A4S	NM_001123225.1	NP_001116697.1	A1L190	SYCE3_HUMAN	synaptonemal complex central element protein 3	4					positive regulation of apoptotic process (GO:0043065)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|chromosome (GO:0005694)|nucleus (GO:0005634)		p.A4S(2)		endometrium(1)|kidney(1)	2						TCAGGGTCAGCATCATCCATC	0.413																																																	2	Substitution - Missense(2)	kidney(2)											209.0	156.0	172.0					22																	50994825		692	1591	2283	SO:0001583	missense	0				CCDS46733.1	22q13.33	2011-10-05	2011-10-05	2011-10-05	ENSG00000217442	ENSG00000217442			35245	protein-coding gene	gene with protein product	"""testis highly expressed protein 2"""	615775	"""chromosome 22 open reading frame 41"""	C22orf41		21637789	Standard	NM_001123225		Approved		uc010hbe.3	A1L190	OTTHUMG00000150273	ENST00000406915.3:c.10G>T	22.37:g.50994825C>A	ENSP00000385480:p.Ala4Ser			Missense_Mutation	SNP	ENST00000406915.3	37	CCDS46733.1	.	.	.	.	.	.	.	.	.	.	C	4.550	0.102106	0.08731	.	.	ENSG00000217442	ENST00000406915;ENST00000402753	T;T	0.38240	1.15;1.15	5.24	1.71	0.24356	.	.	.	.	.	T	0.11324	0.0276	.	.	.	0.22787	N	0.998733	B	0.02656	0.0	B	0.04013	0.001	T	0.32771	-0.9894	8	0.02654	T	1	-0.8952	0.9093	0.01291	0.4971:0.173:0.1773:0.1526	.	4	A1L190	SYCE3_HUMAN	S	4	ENSP00000385480:A4S;ENSP00000385122:A4S	ENSP00000385122:A4S	A	-	1	0	C22orf41	49341691	0.835000	0.29415	1.000000	0.80357	0.231000	0.25187	0.742000	0.26216	0.404000	0.25506	-0.474000	0.04947	GCT		0.413	SYCE3-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317660.1		NM_001123225	
C6orf118	168090	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	165715542	165715542	+	Missense_Mutation	SNP	C	C	T	rs143539145		TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr6:165715542C>T	ENST00000230301.8	-	2	289	c.269G>A	c.(268-270)cGc>cAc	p.R90H	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	90								p.R90H(1)		breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CTCAGAGGCGCGCTCCCCCTT	0.652																																																	1	Substitution - Missense(1)	kidney(1)						C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	69.0	78.0	75.0		269	-5.7	0.0	6	dbSNP_134	75	0,8600		0,0,4300	no	missense	C6orf118	NM_144980.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	90/470	165715542	1,13005	2203	4300	6503	SO:0001583	missense	168090				CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.269G>A	6.37:g.165715542C>T	ENSP00000230301:p.Arg90His		Q8TC11	Missense_Mutation	SNP	ENST00000230301.8	37	CCDS5288.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846345	0.51164	2.27E-4	0.0	ENSG00000112539	ENST00000230301	T	0.12774	2.65	4.79	-5.66	0.02451	.	2.282010	0.01599	N	0.021977	T	0.05410	0.0143	L	0.47716	1.5	0.09310	N	0.999998	D	0.61697	0.99	P	0.48982	0.597	T	0.20472	-1.0274	10	0.59425	D	0.04	.	0.9406	0.01355	0.1822:0.2698:0.1544:0.3936	.	90	Q5T5N4	CF118_HUMAN	H	90	ENSP00000230301:R90H	ENSP00000230301:R90H	R	-	2	0	C6orf118	165635532	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.168000	0.01270	-0.945000	0.03681	-0.844000	0.03045	CGC		0.652	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1		NM_144980	
CALD1	800	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	134618404	134618404	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr7:134618404T>G	ENST00000361675.2	+	5	1113	c.884T>G	c.(883-885)aTt>aGt	p.I295S	CALD1_ENST00000361901.2_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000424922.1_Intron			Q05682	CALD1_HUMAN	caldesmon 1	295					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)	p.I295S(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						CGAGCAAGAATTGAAGCAGAA	0.473																																																	1	Substitution - Missense(1)	kidney(1)											69.0	79.0	76.0					7																	134618404		2203	4300	6503	SO:0001583	missense	800			M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.884T>G	7.37:g.134618404T>G	ENSP00000354826:p.Ile295Ser		A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	ENST00000361675.2	37	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	T	5.797	0.331395	0.10956	.	.	ENSG00000122786	ENST00000361675	T	0.39997	1.05	4.66	0.621	0.17643	.	2.462060	0.01903	N	0.039341	T	0.29093	0.0723	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.14578	0.011	T	0.08086	-1.0739	9	.	.	.	2.739	1.5901	0.02652	0.1452:0.1549:0.1385:0.5614	.	295	Q05682	CALD1_HUMAN	S	295	ENSP00000354826:I295S	.	I	+	2	0	CALD1	134268944	0.000000	0.05858	0.006000	0.13384	0.988000	0.76386	0.115000	0.15540	0.134000	0.18681	0.460000	0.39030	ATT		0.473	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1		NM_033138	
CAMTA2	23125	broad.mit.edu;ucsc.edu	37	17	4877038	4877038	+	Silent	SNP	T	T	C			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr17:4877038T>C	ENST00000348066.3	-	13	2166	c.2043A>G	c.(2041-2043)gaA>gaG	p.E681E	CAMTA2_ENST00000358183.4_Silent_p.E681E|CAMTA2_ENST00000572543.1_Silent_p.E686E|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000381311.5_Silent_p.E683E|CAMTA2_ENST00000414043.3_Silent_p.E704E|CAMTA2_ENST00000361571.5_Silent_p.E680E	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	681					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)	p.E681E(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CTACCCGTGCTTCGAACCCAG	0.597																																																	1	Substitution - coding silent(1)	kidney(1)											80.0	72.0	74.0					17																	4877038		2203	4300	6503	SO:0001819	synonymous_variant	23125			AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.2043A>G	17.37:g.4877038T>C			B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Silent	SNP	ENST00000348066.3	37	CCDS11063.1																																																																																				0.597	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1		NM_015099	
CDH8	1006	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	61854956	61854956	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr16:61854956C>G	ENST00000577390.1	-	6	1851	c.897G>C	c.(895-897)aaG>aaC	p.K299N	CDH8_ENST00000584337.1_Missense_Mutation_p.K299N|CDH8_ENST00000299345.6_Missense_Mutation_p.K299N|CDH8_ENST00000577730.1_Missense_Mutation_p.K299N	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	299	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.K299N(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GATCATTGGCCTTCACCCTTC	0.433																																																	1	Substitution - Missense(1)	kidney(1)											148.0	111.0	123.0					16																	61854956		2203	4300	6503	SO:0001583	missense	1006			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.897G>C	16.37:g.61854956C>G	ENSP00000462701:p.Lys299Asn		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650797	0.67472	.	.	ENSG00000150394	ENST00000299345	T	0.01745	4.66	6.16	-1.03	0.10102	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.03263	0.0095	N	0.17278	0.47	0.53688	D	0.999971	D;B	0.76494	0.999;0.338	D;B	0.78314	0.991;0.241	T	0.51284	-0.8725	10	0.51188	T	0.08	.	10.7283	0.46081	0.0:0.4093:0.0:0.5907	.	115;299	Q3LID3;P55286	.;CADH8_HUMAN	N	299	ENSP00000299345:K299N	ENSP00000299345:K299N	K	-	3	2	CDH8	60412457	0.826000	0.29277	0.997000	0.53966	0.998000	0.95712	-0.079000	0.11357	-0.025000	0.13918	0.650000	0.86243	AAG		0.433	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3		NM_001796	
CKAP2L	150468	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	113509843	113509843	+	Splice_Site	SNP	C	C	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr2:113509843C>A	ENST00000302450.6	-	5	1681		c.e5+1		CKAP2L_ENST00000541405.1_Splice_Site	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like							centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.?(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TCTTCACTTACCCCTTCGATG	0.363																																																	1	Unknown(1)	kidney(1)											212.0	210.0	211.0					2																	113509843		2203	4300	6503	SO:0001630	splice_region_variant	150468			AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.1602+1G>T	2.37:g.113509843C>A			A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Splice_Site	SNP	ENST00000302450.6	37	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262847	0.59431	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1302	0.86724	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CKAP2L	113226314	0.999000	0.42202	0.976000	0.42696	0.695000	0.40330	4.494000	0.60347	2.648000	0.89879	0.585000	0.79938	.		0.363	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2		NM_152515	Intron
CLCN1	1180	hgsc.bcm.edu;ucsc.edu	37	7	143048913	143048913	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr7:143048913delC	ENST00000343257.2	+	23	2909	c.2822delC	c.(2821-2823)tccfs	p.S941fs		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	941					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CCCCCTCTCTCCCTGGCCCCA	0.657																																																	0													39.0	38.0	38.0					7																	143048913		2203	4300	6503	SO:0001589	frameshift_variant	1180			Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.2822delC	7.37:g.143048913delC	ENSP00000339867:p.Ser941fs		A4D2H5|Q2M202	Frame_Shift_Del	DEL	ENST00000343257.2	37	CCDS5881.1																																																																																				0.657	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1		NM_000083	
COASY	80347	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	40715165	40715165	+	Silent	SNP	G	G	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr17:40715165G>A	ENST00000393818.2	+	1	981	c.525G>A	c.(523-525)agG>agA	p.R175R	COASY_ENST00000420359.1_Silent_p.R175R|COASY_ENST00000590958.1_Silent_p.R204R|RP11-400F19.8_ENST00000585572.1_RNA|COASY_ENST00000421097.2_Silent_p.R175R|COASY_ENST00000449624.1_5'UTR	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	175					cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)	p.R175R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CCACGATCAGGCCAGCTTCCC	0.642																																																	1	Substitution - coding silent(1)	kidney(1)											62.0	66.0	65.0					17																	40715165		2203	4300	6503	SO:0001819	synonymous_variant	80347			AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"""Coenzyme A synthase"""			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.525G>A	17.37:g.40715165G>A			B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Silent	SNP	ENST00000393818.2	37	CCDS11429.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.416321	0.25552	.	.	ENSG00000068120	ENST00000426807	.	.	.	4.72	1.49	0.22878	.	.	.	.	.	T	0.58750	0.2144	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57154	-0.7860	5	0.87932	D	0	-13.1065	4.3297	0.11057	0.22:0.1851:0.595:0.0	.	.	.	.	T	151	.	ENSP00000390306:A151T	A	+	1	0	COASY	37968691	0.997000	0.39634	0.988000	0.46212	0.840000	0.47671	1.722000	0.38042	0.261000	0.21753	0.561000	0.74099	GCC		0.642	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450409.1		NM_025233	
CLTC	1213	broad.mit.edu;ucsc.edu	37	17	57746161	57746161	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr17:57746161A>T	ENST00000269122.3	+	14	2426	c.2152A>T	c.(2152-2154)Att>Ttt	p.I718F	CLTC_ENST00000393043.1_Missense_Mutation_p.I718F|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	718	Heavy chain arm.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)	p.I718F(1)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TCTGGGATCCATTGTTAACTT	0.333			T	"""ALK, TFE3"""	"""ALCL, renal """																																			Dom	yes		17	17q11-qter	1213	"""clathrin, heavy polypeptide (Hc)"""		L	1	Substitution - Missense(1)	kidney(1)											127.0	120.0	123.0					17																	57746161		2203	4300	6503	SO:0001583	missense	1213			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.2152A>T	17.37:g.57746161A>T	ENSP00000269122:p.Ile718Phe		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.925400	0.92319	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.51817	0.69;0.69	5.72	5.72	0.89469	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71567	0.3355	M	0.83012	2.62	0.80722	D	1	D;B	0.54207	0.965;0.121	D;P	0.74674	0.984;0.495	T	0.75513	-0.3291	10	0.62326	D	0.03	.	15.9993	0.80280	1.0:0.0:0.0:0.0	.	718;718	Q00610;Q00610-2	CLH1_HUMAN;.	F	718	ENSP00000269122:I718F;ENSP00000376763:I718F	ENSP00000269122:I718F	I	+	1	0	CLTC	55100943	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.184000	0.69523	0.383000	0.25322	ATT		0.333	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1		NM_004859	
COL12A1	1303	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	75864169	75864169	+	Silent	SNP	G	G	C			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr6:75864169G>C	ENST00000322507.8	-	17	3837	c.3528C>G	c.(3526-3528)acC>acG	p.T1176T	COL12A1_ENST00000483888.2_Silent_p.T1176T|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Silent_p.T1176T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1176	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.T1176T(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TGTCGGAAAGGGTTGTCATTT	0.358																																																	1	Substitution - coding silent(1)	kidney(1)											128.0	125.0	126.0					6																	75864169		1851	4093	5944	SO:0001819	synonymous_variant	1303			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.3528C>G	6.37:g.75864169G>C			O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	CCDS43482.1																																																																																				0.358	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3		NM_004370	
COL4A6	1288	broad.mit.edu	37	X	107400258	107400258	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chrX:107400258C>T	ENST00000372216.4	-	45	5148	c.5048G>A	c.(5047-5049)cGc>cAc	p.R1683H	COL4A6_ENST00000545689.1_Missense_Mutation_p.R1658H|COL4A6_ENST00000538570.1_Missense_Mutation_p.R1625H|COL4A6_ENST00000334504.7_Missense_Mutation_p.R1682H|COL4A6_ENST00000394872.2_Missense_Mutation_p.R1683H|COL4A6_ENST00000418180.1_Missense_Mutation_p.R217H	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1683	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.R1682H(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CACCTGGCAGCGACTGACTCG	0.572									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)												1	Substitution - Missense(1)	kidney(1)											72.0	71.0	71.0					X																	107400258		2203	4300	6503	SO:0001583	missense	1288	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.5048G>A	X.37:g.107400258C>T	ENSP00000361290:p.Arg1683His		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.328483	0.60743	.	.	ENSG00000197565	ENST00000418180;ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D;D	0.97352	-4.35;-4.35;-4.35;-4.35;-4.35;-4.35	4.99	4.99	0.66335	C-type lectin fold (1);	0.000000	0.39834	N	0.001258	D	0.99096	0.9689	H	0.97707	4.06	0.51482	D	0.999925	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.993;1.0;0.993;0.996;0.986	D	0.99194	1.0871	10	0.87932	D	0	.	18.0603	0.89374	0.0:1.0:0.0:0.0	.	1658;217;1625;1683;1682	F5H851;B4DZ39;F5H3Q5;Q14031;Q14031-2	.;.;.;CO4A6_HUMAN;.	H	217;1683;1682;1683;1670;1658;1625	ENSP00000406002:R217H;ENSP00000361290:R1683H;ENSP00000334733:R1682H;ENSP00000378340:R1683H;ENSP00000443707:R1658H;ENSP00000445236:R1625H	ENSP00000334733:R1682H	R	-	2	0	COL4A6	107286914	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	4.961000	0.63681	2.396000	0.81511	0.513000	0.50165	CGC		0.572	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			
CROCCP2	84809	broad.mit.edu	37	1	16946437	16946437	+	lincRNA	SNP	C	C	T	rs2262202	byFrequency	TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr1:16946437C>T	ENST00000412962.1	-	0	1082				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGCCTTCCGCCGGGCCAGCAG	0.672													.|||	800	0.159744	0.1067	0.1571	5008	,	,		61077	0.2659		0.1511	False		,,,				2504	0.1329																0																																												0			AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946437C>T			Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																					0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1		NR_026752.1	
CSMD3	114788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	113349913	113349913	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr8:113349913A>C	ENST00000297405.5	-	43	6944	c.6700T>G	c.(6700-6702)Ttt>Gtt	p.F2234V	CSMD3_ENST00000352409.3_Missense_Mutation_p.F2164V|CSMD3_ENST00000343508.3_Missense_Mutation_p.F2194V|CSMD3_ENST00000455883.2_Missense_Mutation_p.F2130V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2234	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F2234V(1)|p.F2194V(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						CCAATTACAAAACCATTTCGA	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							2	Substitution - Missense(2)	kidney(2)											98.0	100.0	99.0					8																	113349913		2203	4300	6503	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6700T>G	8.37:g.113349913A>C	ENSP00000297405:p.Phe2234Val		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	11.92	1.783055	0.31593	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94	5.64	5.64	0.86602	Complement control module (2);Sushi/SCR/CCP (3);	0.074181	0.56097	D	0.000038	T	0.13157	0.0319	N	0.04787	-0.16	0.46396	D	0.999029	B;B;B	0.23937	0.013;0.009;0.094	B;B;B	0.32928	0.013;0.01;0.155	T	0.22977	-1.0201	10	0.14656	T	0.56	.	16.0238	0.80522	1.0:0.0:0.0:0.0	.	2130;2234;2194	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	2194;2234;1504;2130;2164	ENSP00000345799:F2194V;ENSP00000297405:F2234V;ENSP00000341558:F1504V;ENSP00000412263:F2130V;ENSP00000343124:F2164V	ENSP00000297405:F2234V	F	-	1	0	CSMD3	113419089	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.332000	0.65911	2.367000	0.80283	0.528000	0.53228	TTT		0.398	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		NM_052900	
CTAGE9	643854	hgsc.bcm.edu	37	6	132032041	132032041	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr6:132032041delA	ENST00000314099.8	-	1	165	c.117delT	c.(115-117)tttfs	p.F39fs	ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	39						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						GTTCCGATGGAAAACCATAAG	0.483																																																	0													39.0	121.0	109.0					6																	132032041		131	727	858	SO:0001589	frameshift_variant	643854				CCDS47475.1	6q23.2	2010-06-23			ENSG00000236761	ENSG00000236761			37275	protein-coding gene	gene with protein product							Standard	NM_001145659		Approved		uc011ece.2	A4FU28	OTTHUMG00000047966	ENST00000314099.8:c.117delT	6.37:g.132032041delA	ENSP00000395587:p.Phe39fs			Frame_Shift_Del	DEL	ENST00000314099.8	37	CCDS47475.1																																																																																				0.483	CTAGE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109220.1		NM_001145659	
DCAF8L2	347442	broad.mit.edu	37	X	27765420	27765421	+	In_Frame_Ins	INS	-	-	ATACAA			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chrX:27765420_27765421insATACAA	ENST00000451261.2	+	5	807_808	c.408_409insATACAA	c.(409-411)gag>ATACAAgag	p.136_137insIQ		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	136	Glu-rich.									central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						aggaggaggaggaggaggagga	0.589																																																	0																																										SO:0001652	inframe_insertion	347442				CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"""WD repeat domain containing"""	31811	protein-coding gene	gene with protein product			"""WD repeat domain 42C"""	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		Exception_encountered	X.37:g.27765420_27765421insATACAA	ENSP00000462745:p.Glu136_Glu137insIleGln		B2RXH9|J3KT06	In_Frame_Ins	INS	ENST00000451261.2	37	CCDS59162.1																																																																																				0.589	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4		XM_293354	
DGKZ	8525	broad.mit.edu	37	11	46388175	46388175	+	Silent	SNP	G	G	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr11:46388175G>A	ENST00000454345.1	+	2	494	c.369G>A	c.(367-369)caG>caA	p.Q123Q	DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000395574.3_Intron|DGKZ_ENST00000525434.1_Intron|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000527911.1_Intron|DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000532868.2_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	123					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)	p.Q123Q(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		AGGGTGTCCAGGAGGATGTGG	0.677																																																	1	Substitution - coding silent(1)	kidney(1)											22.0	28.0	26.0					11																	46388175		2131	4225	6356	SO:0001819	synonymous_variant	8525			U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.369G>A	11.37:g.46388175G>A			B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Silent	SNP	ENST00000454345.1	37	CCDS41640.1																																																																																				0.677	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1		NM_001105540	
DPF2	5977	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	65113420	65113420	+	Silent	SNP	A	A	C			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr11:65113420A>C	ENST00000528416.1	+	8	928	c.795A>C	c.(793-795)ggA>ggC	p.G265G	DPF2_ENST00000415073.2_Intron|DPF2_ENST00000252268.4_Silent_p.G279G|DPF2_ENST00000532264.1_3'UTR	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	265					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)	p.G265G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						GTCCTGATGGATTGGCCTTGC	0.512																																																	1	Substitution - coding silent(1)	kidney(1)											125.0	125.0	125.0					11																	65113420		2201	4297	6498	SO:0001819	synonymous_variant	5977			U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"""Zinc fingers, PHD-type"""	9964	protein-coding gene	gene with protein product		601671	"""requiem, apoptosis response zinc finger gene"""	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.795A>C	11.37:g.65113420A>C			A8K7C9|B4DT58	Silent	SNP	ENST00000528416.1	37	CCDS8100.1	.	.	.	.	.	.	.	.	.	.	A	14.36	2.513536	0.44763	.	.	ENSG00000133884	ENST00000531989	D	0.91686	-2.89	5.92	-7.62	0.01294	.	.	.	.	.	T	0.75874	0.3909	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62407	-0.6861	6	0.07644	T	0.81	-11.556	1.3808	0.02230	0.2:0.3121:0.2839:0.204	.	.	.	.	A	28	ENSP00000435887:D28A	ENSP00000435887:D28A	D	+	2	0	DPF2	64869996	0.000000	0.05858	0.218000	0.23776	0.940000	0.58332	-5.289000	0.00134	-1.763000	0.01307	0.459000	0.35465	GAT		0.512	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387293.3		NM_006268	
DYNC2H1	79659	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	103057148	103057148	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr11:103057148G>C	ENST00000375735.2	+	42	6955	c.6811G>C	c.(6811-6813)Ggt>Cgt	p.G2271R	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.G2271R	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2271	AAA 3. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CATGCAACGAGGTCTAGATTA	0.403																																																	0													85.0	78.0	80.0					11																	103057148		1863	4112	5975	SO:0001583	missense	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.6811G>C	11.37:g.103057148G>C	ENSP00000364887:p.Gly2271Arg		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.066106	0.36470	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.26373	1.74;1.74	5.7	1.66	0.24008	.	.	.	.	.	T	0.24275	0.0588	L	0.29908	0.895	0.38178	D	0.939548	B;B	0.29552	0.248;0.208	B;B	0.41299	0.353;0.163	T	0.09662	-1.0664	9	0.25751	T	0.34	.	12.5281	0.56098	0.195:0.0:0.805:0.0	.	2271;2271	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	R	2271	ENSP00000364887:G2271R;ENSP00000381167:G2271R	ENSP00000364887:G2271R	G	+	1	0	DYNC2H1	102562358	1.000000	0.71417	0.440000	0.26846	0.803000	0.45373	2.419000	0.44671	0.042000	0.15717	-1.175000	0.01729	GGT		0.403	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1		XM_370652	
EEF1D	1936	broad.mit.edu;hgsc.bcm.edu	37	8	144668953	144668953	+	Silent	SNP	T	T	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr8:144668953T>A	ENST00000529272.1	-	2	463	c.63A>T	c.(61-63)gcA>gcT	p.A21A	EEF1D_ENST00000317198.6_Silent_p.A21A|EEF1D_ENST00000395119.3_Silent_p.A21A|EEF1D_ENST00000442189.2_Silent_p.A387A|EEF1D_ENST00000423316.2_Silent_p.A387A|EEF1D_ENST00000528610.1_Silent_p.A21A|EEF1D_ENST00000531621.1_Silent_p.A21A|EEF1D_ENST00000532400.1_Silent_p.A21A|EEF1D_ENST00000526838.1_Silent_p.A21A|EEF1D_ENST00000419152.2_Silent_p.A21A|EEF1D_ENST00000524624.1_Silent_p.A21A|EEF1D_ENST00000532741.1_Silent_p.A437A			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	21					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)	p.A387A(1)		breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			ATCTCCTTTCTGCGTCGTCAT	0.567																																																	1	Substitution - coding silent(1)	kidney(1)											106.0	105.0	105.0					8																	144668953		2203	4300	6503	SO:0001819	synonymous_variant	1936			AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.63A>T	8.37:g.144668953T>A			B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Silent	SNP	ENST00000529272.1	37	CCDS6405.1																																																																																				0.567	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2		NM_032378	
EIF3CL	728689	hgsc.bcm.edu	37	16	28403353	28403355	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	TCC	TCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr16:28403353_28403355delTCC	ENST00000398943.3	-	9	1021_1023	c.885_887delGGA	c.(883-888)gaggac>gac	p.E295del	EIF3CL_ENST00000380876.4_In_Frame_Del_p.E295del|EIF3CL_ENST00000398944.3_In_Frame_Del_p.E295del			B5ME19	EIFCL_HUMAN	eukaryotic translation initiation factor 3, subunit C-like	295					formation of translation preinitiation complex (GO:0001731)|regulation of translational initiation (GO:0006446)	eukaryotic 43S preinitiation complex (GO:0016282)|eukaryotic 48S preinitiation complex (GO:0033290)|eukaryotic translation initiation factor 3 complex (GO:0005852)	translation initiation factor activity (GO:0003743)										GCCTTCATTGTCCTCCTCCTCCT	0.547																																																	0																																										SO:0001651	inframe_deletion	8663				CCDS42136.1	16p11.2	2008-10-28			ENSG00000205609	ENSG00000205609			26347	protein-coding gene	gene with protein product							Standard	NM_001099661		Approved			B5ME19	OTTHUMG00000097025	ENST00000398943.3:c.885_887delGGA	16.37:g.28403362_28403364delTCC	ENSP00000381916:p.Glu295del			In_Frame_Del	DEL	ENST00000398943.3	37	CCDS42136.1																																																																																				0.547	EIF3CL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214116.1			
EP300	2033	broad.mit.edu;ucsc.edu	37	22	41573737	41573737	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr22:41573737T>C	ENST00000263253.7	+	31	7241	c.6022T>C	c.(6022-6024)Tct>Cct	p.S2008P	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2008	Interaction with HTLV-1 Tax.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.S2008P(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GCAACTACAGTCTGGGATGCC	0.592			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	1	Substitution - Missense(1)	kidney(1)											65.0	61.0	62.0					22																	41573737		2203	4300	6503	SO:0001583	missense	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6022T>C	22.37:g.41573737T>C	ENSP00000263253:p.Ser2008Pro		B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	T	1.633	-0.518398	0.04171	.	.	ENSG00000100393	ENST00000263253	D	0.83163	-1.69	5.2	-3.82	0.04281	Nuclear receptor coactivator, CREB-bp-like, interlocking (1);	0.484331	0.17151	N	0.185051	T	0.42268	0.1195	N	0.00621	-1.32	0.30207	N	0.798058	B	0.02656	0.0	B	0.01281	0.0	T	0.55016	-0.8206	10	0.05620	T	0.96	-0.0098	4.2909	0.10878	0.1432:0.5276:0.1451:0.1841	.	2008	Q09472	EP300_HUMAN	P	2008	ENSP00000263253:S2008P	ENSP00000263253:S2008P	S	+	1	0	EP300	39903683	0.787000	0.28750	0.272000	0.24630	0.773000	0.43773	0.304000	0.19228	-0.294000	0.08973	0.459000	0.35465	TCT		0.592	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1		NM_001429	
EPB41L3	23136	broad.mit.edu;hgsc.bcm.edu	37	18	5396318	5396318	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr18:5396318T>A	ENST00000341928.2	-	19	3195	c.2855A>T	c.(2854-2856)aAg>aTg	p.K952M	EPB41L3_ENST00000540638.2_Missense_Mutation_p.K730M|EPB41L3_ENST00000400111.3_Missense_Mutation_p.K730M|EPB41L3_ENST00000342933.3_Missense_Mutation_p.K952M|EPB41L3_ENST00000544123.1_Missense_Mutation_p.K783M|EPB41L3_ENST00000542146.1_Missense_Mutation_p.K257M|EPB41L3_ENST00000427684.2_Missense_Mutation_p.K249M|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	952	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.K952M(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GGTTTCCGTCTTCACCGTTGA	0.453																																																	1	Substitution - Missense(1)	kidney(1)											149.0	129.0	136.0					18																	5396318		2203	4300	6503	SO:0001583	missense	23136			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2855A>T	18.37:g.5396318T>A	ENSP00000343158:p.Lys952Met		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	T	16.92	3.254797	0.59212	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	D;D;T;T;D;D	0.85702	-1.72;-1.85;-0.4;-0.41;-1.72;-2.02	5.84	3.36	0.38483	.	0.387514	0.30101	N	0.010412	D	0.90010	0.6881	M	0.71581	2.175	0.41702	D	0.989409	D;D;D;D;P;D;D;D	0.76494	0.983;0.999;0.999;0.994;0.828;0.971;0.998;0.996	P;D;D;P;P;D;D;D	0.74348	0.885;0.983;0.978;0.873;0.514;0.919;0.95;0.928	D	0.88793	0.3279	10	0.87932	D	0	.	9.0764	0.36525	0.0:0.0653:0.1255:0.8092	.	783;249;257;344;621;730;952;187	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	M	952;621;783;621;249;257;952;730	ENSP00000343158:K952M;ENSP00000441174:K783M;ENSP00000392195:K249M;ENSP00000442233:K257M;ENSP00000341138:K952M;ENSP00000382981:K730M	ENSP00000343158:K952M	K	-	2	0	EPB41L3	5386318	1.000000	0.71417	0.991000	0.47740	0.416000	0.31233	3.470000	0.53100	0.426000	0.26116	0.528000	0.53228	AAG		0.453	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1		NM_012307	
ESPL1	9700	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53685805	53685805	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr12:53685805T>C	ENST00000257934.4	+	27	5820	c.5729T>C	c.(5728-5730)cTc>cCc	p.L1910P	ESPL1_ENST00000552462.1_Missense_Mutation_p.L1910P	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1910					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)	p.L1910P(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						ATGCCCAGCCTCCAAGCACTG	0.572																																					Colon(53;1069 1201 2587 5382)												1	Substitution - Missense(1)	kidney(1)											78.0	75.0	76.0					12																	53685805		2203	4300	6503	SO:0001583	missense	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.5729T>C	12.37:g.53685805T>C	ENSP00000257934:p.Leu1910Pro			Missense_Mutation	SNP	ENST00000257934.4	37	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	T	19.86	3.905726	0.72868	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.23754	1.89;1.89	4.55	4.55	0.56014	.	0.000000	0.64402	D	0.000001	T	0.59280	0.2182	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70270	-0.4918	10	0.87932	D	0	.	13.3175	0.60415	0.0:0.0:0.0:1.0	.	1910	Q14674	ESPL1_HUMAN	P	1910;1585;1910	ENSP00000257934:L1910P;ENSP00000449831:L1910P	ENSP00000257934:L1910P	L	+	2	0	ESPL1	51972072	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	7.388000	0.79795	2.054000	0.61138	0.528000	0.53228	CTC		0.572	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2		NM_012291	
TVP23A	780776	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	10864178	10864178	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr16:10864178C>A	ENST00000299866.8	-	7	884	c.593G>T	c.(592-594)gGt>gTt	p.G198V	TVP23A_ENST00000572980.1_5'UTR	NM_001079512.2	NP_001072980.1	A6NH52	TV23A_HUMAN	trans-golgi network vesicle protein 23 homolog A (S. cerevisiae)	198						integral component of membrane (GO:0016021)		p.G198V(1)									CTGAAAGTCACCTGGGCAGGC	0.537																																																	1	Substitution - Missense(1)	kidney(1)											33.0	34.0	34.0					16																	10864178		1773	3841	5614	SO:0001583	missense	0				CCDS45408.1	16p13.3	2012-11-29	2012-11-29	2012-11-29	ENSG00000166676	ENSG00000166676			20398	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member A"""	FAM18A			Standard	NM_001079512		Approved	YDR084C	uc010buo.1	A6NH52	OTTHUMG00000177389	ENST00000299866.8:c.593G>T	16.37:g.10864178C>A	ENSP00000299866:p.Gly198Val		B2RUV4|B7ZW18	Missense_Mutation	SNP	ENST00000299866.8	37	CCDS45408.1	.	.	.	.	.	.	.	.	.	.	C	4.399	0.073752	0.08485	.	.	ENSG00000166676	ENST00000456096;ENST00000299866	T	0.29142	1.58	5.38	2.03	0.26663	.	1.862920	0.02394	N	0.079998	T	0.19846	0.0477	N	0.14661	0.345	0.09310	N	0.999999	B	0.13594	0.008	B	0.11329	0.006	T	0.16364	-1.0405	10	0.30854	T	0.27	-1.4583	5.4614	0.16619	0.0:0.6067:0.0:0.3933	.	198	A6NH52	FA18A_HUMAN	V	173;198	ENSP00000299866:G198V	ENSP00000299866:G198V	G	-	2	0	FAM18A	10771679	0.000000	0.05858	0.003000	0.11579	0.243000	0.25628	0.350000	0.20079	0.657000	0.30906	-0.263000	0.10527	GGT		0.537	TVP23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436680.1		NM_001079512	
ESRP2	80004	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	68264909	68264909	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr16:68264909G>C	ENST00000565858.1	-	13	1849	c.1763C>G	c.(1762-1764)aCc>aGc	p.T588S	ESRP2_ENST00000473183.2_Missense_Mutation_p.T578S|RP11-96D1.11_ENST00000571197.1_RNA	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	588					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.T578S(2)		NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						TTGGAAGGTGGTGTAGGTAGG	0.627																																																	2	Substitution - Missense(2)	kidney(2)											145.0	140.0	142.0					16																	68264909		2198	4300	6498	SO:0001583	missense	80004			AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"""RNA binding motif (RRM) containing"""	26152	protein-coding gene	gene with protein product		612960	"""RNA binding motif protein 35B"""	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.1763C>G	16.37:g.68264909G>C	ENSP00000454554:p.Thr588Ser		Q8N6H8|Q8WZ15|Q9H6I4	Missense_Mutation	SNP	ENST00000565858.1	37		.	.	.	.	.	.	.	.	.	.	G	11.68	1.712089	0.30322	.	.	ENSG00000103067	ENST00000473183	T	0.09817	2.94	5.94	3.94	0.45596	.	0.212986	0.48767	D	0.000166	T	0.05547	0.0146	N	0.08118	0	0.18873	N	0.999983	B;B	0.15930	0.0;0.015	B;B	0.13407	0.001;0.009	T	0.40365	-0.9567	10	0.15952	T	0.53	-6.4195	11.7534	0.51862	0.0:0.1333:0.7277:0.139	.	588;578	Q9H6T0;Q9H6T0-2	ESRP2_HUMAN;.	S	578	ENSP00000418748:T578S	ENSP00000418748:T578S	T	-	2	0	ESRP2	66822410	1.000000	0.71417	0.968000	0.41197	0.974000	0.67602	7.291000	0.78721	0.811000	0.34303	0.563000	0.77884	ACC		0.627	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000433083.1		NM_024939	
GAREM	64762	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	29847906	29847906	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr18:29847906C>A	ENST00000269209.6	-	6	2562	c.2559G>T	c.(2557-2559)gaG>gaT	p.E853D	GAREM_ENST00000399218.4_Missense_Mutation_p.E852D			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	853	SAM.				cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)	p.E852D(1)									ATTTGAAATCCTCTGAGAGGA	0.413																																																	1	Substitution - Missense(1)	kidney(1)											42.0	43.0	42.0					18																	29847906		2203	4300	6503	SO:0001583	missense	0			AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.2559G>T	18.37:g.29847906C>A	ENSP00000269209:p.Glu853Asp		Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Missense_Mutation	SNP	ENST00000269209.6	37	CCDS56057.1	.	.	.	.	.	.	.	.	.	.	C	3.651	-0.071449	0.07228	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.12879	2.64;2.64	5.6	4.72	0.59763	Sterile alpha motif/pointed domain (2);	0.000000	0.85682	D	0.000000	T	0.17450	0.0419	N	0.21583	0.68	0.58432	D	0.999999	D;P	0.69078	0.997;0.724	D;B	0.72625	0.978;0.183	T	0.03443	-1.1036	10	0.06099	T	0.92	-28.1458	11.1972	0.48719	0.0:0.8612:0.0:0.1388	.	853;852	Q9H706;Q9H706-3	FA59A_HUMAN;.	D	852;853	ENSP00000382165:E852D;ENSP00000269209:E853D	ENSP00000269209:E853D	E	-	3	2	FAM59A	28101904	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.718000	0.38001	2.649000	0.89929	0.650000	0.86243	GAG		0.413	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1		NM_022751	
FLG2	388698	hgsc.bcm.edu;ucsc.edu	37	1	152327665	152327670	+	In_Frame_Del	DEL	CCCGAA	CCCGAA	-	rs12738471|rs371756979	byFrequency	TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	CCCGAA	CCCGAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr1:152327665_152327670delCCCGAA	ENST00000388718.5	-	3	2664_2669	c.2592_2597delTTCGGG	c.(2590-2598)agttcggga>aga	p.864_866SSG>R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	864	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGATGTCTGTCCCGAACTTGACCCAT	0.5																																																	0										8,4250		4,0,2125						-8.8	0.0			345	86,8154		27,32,4061	no	coding	FLG2	NM_001014342.2		31,32,6186	A1A1,A1R,RR		1.0437,0.1879,0.7521				94,12404				SO:0001651	inframe_deletion	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2592_2597delTTCGGG	1.37:g.152327665_152327670delCCCGAA	ENSP00000373370:p.Ser864_Gly866delinsArg		Q9H4U1	In_Frame_Del	DEL	ENST00000388718.5	37	CCDS30861.1																																																																																				0.500	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5		NM_001014342	
CMTR2	55783	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	71318090	71318090	+	Silent	SNP	T	T	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr16:71318090T>A	ENST00000338099.5	-	3	2070	c.1734A>T	c.(1732-1734)atA>atT	p.I578I	CMTR2_ENST00000434935.2_Silent_p.I578I			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	578					7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)	p.I578I(1)									GCAGGCACTTTATTTGATTGC	0.423																																																	1	Substitution - coding silent(1)	kidney(1)											51.0	49.0	50.0					16																	71318090		2198	4299	6497	SO:0001819	synonymous_variant	55783			BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"""adrift homolog (Drosophila)"""		"""FtsJ methyltransferase domain containing 1"""	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.1734A>T	16.37:g.71318090T>A			B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Silent	SNP	ENST00000338099.5	37	CCDS10898.1																																																																																				0.423	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268984.2		NM_018348	
GATAD2B	57459	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	153782691	153782691	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr1:153782691G>A	ENST00000368655.4	-	11	1987	c.1744C>T	c.(1744-1746)Ccc>Tcc	p.P582S		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	582					ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P582S(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ATAGACCGGGGAGGGATCATG	0.493																																																	1	Substitution - Missense(1)	kidney(1)											148.0	130.0	137.0					1																	153782691		2203	4300	6503	SO:0001583	missense	57459			AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"""GATA zinc finger domain containing"""	30778	protein-coding gene	gene with protein product	"""transcription repressor p66 beta component of the MeCP1 complex"""	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.1744C>T	1.37:g.153782691G>A	ENSP00000357644:p.Pro582Ser		D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Missense_Mutation	SNP	ENST00000368655.4	37	CCDS1054.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.449479	0.63178	.	.	ENSG00000143614	ENST00000368655	T	0.30981	1.51	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.11153	0.0272	L	0.28344	0.845	0.58432	D	0.999999	B	0.13594	0.008	B	0.12156	0.007	T	0.07578	-1.0765	10	0.09843	T	0.71	-0.3926	18.0328	0.89290	0.0:0.0:1.0:0.0	.	582	Q8WXI9	P66B_HUMAN	S	582	ENSP00000357644:P582S	ENSP00000357644:P582S	P	-	1	0	GATAD2B	152049315	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	6.477000	0.73591	2.783000	0.95769	0.655000	0.94253	CCC		0.493	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1		NM_020699	
GPR83	10888	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	94113463	94113463	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr11:94113463G>A	ENST00000243673.2	-	4	1295	c.1124C>T	c.(1123-1125)cCc>cTc	p.P375L	GPR83_ENST00000539203.2_Missense_Mutation_p.P333L	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	375					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)	p.P375L(1)		NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AACTGGGGAGGGTGGCCTGTC	0.552																																																	1	Substitution - Missense(1)	kidney(1)											102.0	94.0	97.0					11																	94113463		2201	4298	6499	SO:0001583	missense	10888			AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"""GPCR / Class A : Orphans"""	4523	protein-coding gene	gene with protein product		605569	"""G protein-coupled receptor 72"""	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.1124C>T	11.37:g.94113463G>A	ENSP00000243673:p.Pro375Leu		B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP	ENST00000243673.2	37	CCDS8297.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.550812	0.27739	.	.	ENSG00000123901	ENST00000243673;ENST00000539203	T;T	0.37235	1.21;1.21	5.75	5.75	0.90469	.	0.055430	0.64402	D	0.000001	T	0.32912	0.0845	L	0.43923	1.385	0.80722	D	1	B	0.25441	0.126	B	0.20955	0.032	T	0.06409	-1.0828	10	0.19590	T	0.45	.	18.5085	0.90907	0.0:0.0:1.0:0.0	.	375	Q9NYM4	GPR83_HUMAN	L	375;333	ENSP00000243673:P375L;ENSP00000441550:P333L	ENSP00000243673:P375L	P	-	2	0	GPR83	93753111	1.000000	0.71417	0.997000	0.53966	0.116000	0.19942	6.940000	0.75917	2.719000	0.93026	0.655000	0.94253	CCC		0.552	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1		NM_016540	
GREB1	9687	broad.mit.edu;hgsc.bcm.edu	37	2	11767208	11767208	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr2:11767208T>A	ENST00000381486.2	+	25	4727	c.4427T>A	c.(4426-4428)aTg>aAg	p.M1476K	GREB1_ENST00000234142.5_Missense_Mutation_p.M1476K|GREB1_ENST00000396123.1_Missense_Mutation_p.M474K	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1476						integral component of membrane (GO:0016021)		p.M1476K(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CACCAGTACATGGGCTTCCAC	0.582																																					Ovarian(39;850 945 2785 23371 33093)												1	Substitution - Missense(1)	kidney(1)											62.0	69.0	66.0					2																	11767208		2121	4227	6348	SO:0001583	missense	9687				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.4427T>A	2.37:g.11767208T>A	ENSP00000370896:p.Met1476Lys		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.048052	0.75846	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.51574	0.7;0.7;0.7	5.58	5.58	0.84498	.	0.169448	0.64402	D	0.000009	T	0.51941	0.1704	M	0.68317	2.08	0.80722	D	1	B	0.20052	0.041	B	0.28849	0.095	T	0.52638	-0.8549	10	0.62326	D	0.03	-34.088	15.738	0.77863	0.0:0.0:0.0:1.0	.	1476	Q4ZG55	GREB1_HUMAN	K	1476;1476;474	ENSP00000370896:M1476K;ENSP00000234142:M1476K;ENSP00000379429:M474K	ENSP00000234142:M1476K	M	+	2	0	GREB1	11684659	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.544000	0.82117	2.120000	0.65058	0.533000	0.62120	ATG		0.582	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1		NM_014668	
GRIN3A	116443	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	104499650	104499650	+	Silent	SNP	G	G	T			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr9:104499650G>T	ENST00000361820.3	-	1	1212	c.612C>A	c.(610-612)ggC>ggA	p.G204G		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	204					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.G204G(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CCATCATTTCGCCCTGGCTCT	0.597																																																	1	Substitution - coding silent(1)	kidney(1)											80.0	74.0	76.0					9																	104499650		2203	4300	6503	SO:0001819	synonymous_variant	116443				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.612C>A	9.37:g.104499650G>T			B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	CCDS6758.1																																																																																				0.597	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			
GZF1	64412	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	23345603	23345603	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr20:23345603G>T	ENST00000338121.5	+	2	660	c.583G>T	c.(583-585)Gat>Tat	p.D195Y	GZF1_ENST00000377051.2_Missense_Mutation_p.D195Y|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	195					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)	p.D195Y(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CATGTCTTCAGATTTGCCACC	0.542																																																	1	Substitution - Missense(1)	kidney(1)											48.0	51.0	50.0					20																	23345603		2203	4300	6503	SO:0001583	missense	64412			AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.583G>T	20.37:g.23345603G>T	ENSP00000338290:p.Asp195Tyr		A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	ENST00000338121.5	37	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	G	8.131	0.783014	0.16189	.	.	ENSG00000125812	ENST00000338121;ENST00000377051	T;T	0.10382	2.88;2.88	4.08	1.99	0.26369	.	0.399304	0.19906	N	0.103409	T	0.09335	0.0230	L	0.29908	0.895	0.21740	N	0.99957	P	0.49447	0.924	P	0.44732	0.459	T	0.14924	-1.0455	10	0.72032	D	0.01	.	8.3783	0.32455	0.0879:0.1549:0.7572:0.0	.	195	Q9H116	GZF1_HUMAN	Y	195	ENSP00000338290:D195Y;ENSP00000366250:D195Y	ENSP00000338290:D195Y	D	+	1	0	GZF1	23293603	0.001000	0.12720	0.005000	0.12908	0.007000	0.05969	0.905000	0.28504	0.939000	0.37446	0.637000	0.83480	GAT		0.542	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1		NM_022482	
HN1L	90861	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	1735538	1735538	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr16:1735538T>G	ENST00000248098.3	+	2	200	c.143T>G	c.(142-144)tTt>tGt	p.F48C	HN1L_ENST00000382710.4_Missense_Mutation_p.F36C|HN1L_ENST00000562684.1_Missense_Mutation_p.F76C|LA16c-431H6.6_ENST00000454337.1_3'UTR|HN1L_ENST00000569765.1_Missense_Mutation_p.F76C|HN1L_ENST00000561516.1_Missense_Mutation_p.F48C|HN1L_ENST00000382711.5_Missense_Mutation_p.F32C|HN1L_ENST00000569256.1_Intron	NM_144570.2	NP_653171.1	Q9H910	HN1L_HUMAN	hematological and neurological expressed 1-like	48						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.F48C(1)		endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						TCTAATATTTTTGGACCAACA	0.473																																																	1	Substitution - Missense(1)	kidney(1)											85.0	86.0	85.0					16																	1735538		2199	4300	6499	SO:0001583	missense	90861			AK023154	CCDS10441.1	16p13.3	2006-12-13	2006-12-13	2006-12-13	ENSG00000206053	ENSG00000206053			14137	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 34"""	C16orf34		15094197	Standard	NM_144570		Approved	FLJ13092, L11, KIAA1426	uc002cmg.3	Q9H910	OTTHUMG00000047859	ENST00000248098.3:c.143T>G	16.37:g.1735538T>G	ENSP00000248098:p.Phe48Cys		B1AJY2|Q6EIC7	Missense_Mutation	SNP	ENST00000248098.3	37	CCDS10441.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.678280	0.88542	.	.	ENSG00000206053	ENST00000248098;ENST00000382711;ENST00000414325;ENST00000382710	T;T	0.42513	0.97;0.97	5.99	5.99	0.97316	.	0.051151	0.85682	D	0.000000	T	0.71039	0.3293	M	0.88310	2.945	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.77164	-0.2688	10	0.87932	D	0	-39.7054	16.4943	0.84223	0.0:0.0:0.0:1.0	.	36;76;76;48;48	A6NGP5;B4E1P3;B4DLH4;B4DL85;Q9H910	.;.;.;.;HN1L_HUMAN	C	48;76;48;36	ENSP00000248098:F48C;ENSP00000372157:F36C	ENSP00000248098:F48C	F	+	2	0	HN1L	1675539	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.739000	0.68622	2.291000	0.77112	0.533000	0.62120	TTT		0.473	HN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109086.2		NM_144570	
IDI1	3422	hgsc.bcm.edu;ucsc.edu	37	10	1088643	1088643	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr10:1088643delT	ENST00000381344.3	-	4	632	c.466delA	c.(466-468)agtfs	p.S156fs	IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000437374.1_RNA|RNU7-163P_ENST00000459467.1_RNA|IDI1_ENST00000491735.1_5'UTR|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000536039.1_RNA	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1	99	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.			R -> G (in Ref. 9; BAD96595). {ECO:0000305}.	cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isoprenoid biosynthetic process (GO:0008299)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		AGGGCGTCACTTTCCTCAAGC	0.463																																																	0													112.0	99.0	103.0					10																	1088643		2203	4300	6503	SO:0001589	frameshift_variant	3422			BC006999	CCDS7056.1	10p15.3	2003-11-12	2005-07-25		ENSG00000067064	ENSG00000067064	5.3.3.2		5387	protein-coding gene	gene with protein product	"""IPP isomerase"""	604055	"""isopentenyl-diphosphate delta isomerase"""			8020941	Standard	NM_004508		Approved		uc001iga.3	Q13907	OTTHUMG00000017536	ENST00000381344.3:c.466delA	10.37:g.1088643delT	ENSP00000370748:p.Ser156fs		B4E155|Q32Q13|Q53GQ6|Q86U81|Q8WUX8|Q96IZ4|Q9BQ74	Frame_Shift_Del	DEL	ENST00000381344.3	37	CCDS7056.1																																																																																				0.463	IDI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046409.2		NM_004508	
IL2RB	3560	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	37539570	37539570	+	Missense_Mutation	SNP	G	G	A	rs371340355		TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr22:37539570G>A	ENST00000216223.5	-	3	392	c.194C>T	c.(193-195)cCg>cTg	p.P65L		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	65					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)	p.P65L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CCGTCTGTCCGGCCAGGCATG	0.537																																																	1	Substitution - Missense(1)	kidney(1)						G	LEU/PRO	0,4406		0,0,2203	69.0	59.0	63.0		194	3.7	0.0	22		63	1,8599	1.2+/-3.3	0,1,4299	no	missense	IL2RB	NM_000878.2	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	65/552	37539570	1,13005	2203	4300	6503	SO:0001583	missense	3560			M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"""Interleukins and interleukin receptors"", ""CD molecules"""	6009	protein-coding gene	gene with protein product		146710	"""interleukin 15 receptor, beta"""	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.194C>T	22.37:g.37539570G>A	ENSP00000216223:p.Pro65Leu		B2R765	Missense_Mutation	SNP	ENST00000216223.5	37	CCDS13942.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066410	0.55539	0.0	1.16E-4	ENSG00000100385	ENST00000216223;ENST00000453962;ENST00000429622;ENST00000445595	D;D;D;D	0.96992	-4.2;-4.2;-4.2;-4.2	4.75	3.71	0.42584	Fibronectin, type III (1);	1.080800	0.07065	N	0.834429	D	0.96034	0.8708	L	0.44542	1.39	0.09310	N	0.999995	D	0.76494	0.999	P	0.57152	0.814	D	0.88535	0.3105	10	0.22706	T	0.39	-1.7339	10.5674	0.45181	0.0:0.0:0.8067:0.1933	.	65	P14784	IL2RB_HUMAN	L	65	ENSP00000216223:P65L;ENSP00000403731:P65L;ENSP00000402685:P65L;ENSP00000401020:P65L	ENSP00000216223:P65L	P	-	2	0	IL2RB	35869516	0.041000	0.20044	0.001000	0.08648	0.001000	0.01503	2.882000	0.48546	1.072000	0.40860	0.561000	0.74099	CCG		0.537	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1			
INSC	387755	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	15267524	15267524	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr11:15267524G>A	ENST00000379554.3	+	13	1724	c.1678G>A	c.(1678-1680)Gtc>Atc	p.V560I	INSC_ENST00000424273.1_Missense_Mutation_p.V471I|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000379556.3_Missense_Mutation_p.V513I|INSC_ENST00000530161.1_Missense_Mutation_p.V513I|INSC_ENST00000528567.1_3'UTR|INSC_ENST00000525218.1_Missense_Mutation_p.V471I	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	560					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)		p.V560I(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TCAGCAGTTGGTCCAGCCTCG	0.542																																																	1	Substitution - Missense(1)	kidney(1)											115.0	119.0	118.0					11																	15267524		1987	4149	6136	SO:0001583	missense	387755			AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.1678G>A	11.37:g.15267524G>A	ENSP00000368872:p.Val560Ile		A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	37	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.093826	0.56075	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000530161;ENST00000525218	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	6.17	5.26	0.73747	Armadillo-type fold (1);	0.131369	0.52532	N	0.000075	T	0.40719	0.1128	L	0.42245	1.32	0.34652	D	0.721762	B;B;B	0.26602	0.051;0.154;0.047	B;B;B	0.23716	0.036;0.048;0.017	T	0.50311	-0.8843	10	0.27785	T	0.31	-31.529	14.3928	0.66991	0.0715:0.0:0.9285:0.0	.	548;471;560	Q1MX18-5;Q1MX18-4;Q1MX18	.;.;INSC_HUMAN	I	560;513;471;513;471	ENSP00000368872:V560I;ENSP00000368874:V513I;ENSP00000389161:V471I;ENSP00000436194:V513I;ENSP00000436113:V471I	ENSP00000368872:V560I	V	+	1	0	INSC	15224100	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.357000	0.59436	1.616000	0.50265	0.655000	0.94253	GTC		0.542	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1		NM_001031853	
IPO13	9670	broad.mit.edu	37	1	44433044	44433044	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr1:44433044G>T	ENST00000372343.3	+	19	3333	c.2671G>T	c.(2671-2673)Gcc>Tcc	p.A891S	DPH2_ENST00000412950.2_5'Flank|DPH2_ENST00000255108.3_5'Flank|DPH2_ENST00000396758.2_5'Flank|IPO13_ENST00000372339.3_Missense_Mutation_p.A109S	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	891					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A891S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TATCCTGTTCGCCCTGAACAA	0.622																																																	1	Substitution - Missense(1)	kidney(1)											75.0	73.0	74.0					1																	44433044		2203	4300	6503	SO:0001583	missense	9670			AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.2671G>T	1.37:g.44433044G>T	ENSP00000361418:p.Ala891Ser		D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	ENST00000372343.3	37	CCDS503.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.724373	0.30593	.	.	ENSG00000117408	ENST00000372343;ENST00000372339	.	.	.	4.7	3.74	0.42951	.	0.429421	0.25335	N	0.031419	T	0.41328	0.1154	N	0.21373	0.66	0.38263	D	0.941925	B;B	0.27140	0.087;0.169	B;B	0.27380	0.079;0.078	T	0.38628	-0.9652	9	0.23891	T	0.37	-21.2926	12.1205	0.53889	0.0:0.0:0.6924:0.3076	.	109;891	Q5T4X2;O94829	.;IPO13_HUMAN	S	891;109	.	ENSP00000361414:A109S	A	+	1	0	IPO13	44205631	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.452000	0.35156	2.136000	0.66102	0.394000	0.25966	GCC		0.622	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1		NM_014652	
IRX6	79190	broad.mit.edu	37	16	55362619	55362619	+	Silent	SNP	T	T	C			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr16:55362619T>C	ENST00000290552.7	+	5	2061	c.729T>C	c.(727-729)acT>acC	p.T243T	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	243					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.T243T(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CAGAAGTTACTGCTAGCCAGG	0.587																																																	1	Substitution - coding silent(1)	kidney(1)											42.0	50.0	47.0					16																	55362619		2174	4242	6416	SO:0001819	synonymous_variant	79190			AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.729T>C	16.37:g.55362619T>C			B2RN06|Q7Z2K0	Silent	SNP	ENST00000290552.7	37	CCDS32449.1																																																																																				0.587	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4		NM_024335	
ITGB1	3688	broad.mit.edu;hgsc.bcm.edu	37	10	33199330	33199330	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr10:33199330G>A	ENST00000396033.2	-	14	2120	c.1985C>T	c.(1984-1986)aCa>aTa	p.T662I	ITGB1_ENST00000302278.3_Missense_Mutation_p.T662I|ITGB1_ENST00000423113.1_Missense_Mutation_p.T662I|ITGB1_ENST00000374956.4_Missense_Mutation_p.T662I	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	662					axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)	p.T662I(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	ACATTCCTGTGTGCATGTGTC	0.378																																																	2	Substitution - Missense(2)	kidney(2)											49.0	50.0	50.0					10																	33199330		2203	4297	6500	SO:0001583	missense	3688			BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.1985C>T	10.37:g.33199330G>A	ENSP00000379350:p.Thr662Ile		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	ENST00000396033.2	37	CCDS7174.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.786752	0.31593	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956	D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63	5.64	3.77	0.43336	Integrin beta subunit, tail (2);	0.762789	0.13099	N	0.413926	T	0.76744	0.4030	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B	0.09022	0.0;0.0;0.0;0.0;0.002	B;B;B;B;B	0.17433	0.0;0.001;0.0;0.0;0.018	T	0.63341	-0.6659	10	0.44086	T	0.13	.	5.8428	0.18643	0.1906:0.0:0.6616:0.1478	.	662;662;662;662;662	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	I	662	ENSP00000379350:T662I;ENSP00000388694:T662I;ENSP00000303351:T662I;ENSP00000364094:T662I	ENSP00000303351:T662I	T	-	2	0	ITGB1	33239336	0.500000	0.26091	0.923000	0.36655	0.811000	0.45836	2.684000	0.46951	2.673000	0.90976	0.555000	0.69702	ACA		0.378	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1		NM_002211	
KCNH7	90134	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	163241253	163241253	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr2:163241253T>G	ENST00000332142.5	-	13	3006	c.2907A>C	c.(2905-2907)gaA>gaC	p.E969D		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	969					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.E969D(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TGGGCACTGTTTCTTCAAAAT	0.438																																					GBM(196;1492 2208 17507 24132 45496)												1	Substitution - Missense(1)	kidney(1)											176.0	170.0	172.0					2																	163241253		2203	4299	6502	SO:0001583	missense	90134			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2907A>C	2.37:g.163241253T>G	ENSP00000331727:p.Glu969Asp		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	T	7.200	0.593207	0.13875	.	.	ENSG00000184611	ENST00000332142	D	0.98602	-5.02	5.3	1.49	0.22878	.	0.431030	0.27768	N	0.017939	D	0.91304	0.7258	N	0.08118	0	0.44825	D	0.997839	B	0.12630	0.006	B	0.08055	0.003	T	0.81600	-0.0859	10	0.13108	T	0.6	.	4.9726	0.14123	0.0:0.2095:0.2754:0.5151	.	969	Q9NS40	KCNH7_HUMAN	D	969	ENSP00000331727:E969D	ENSP00000331727:E969D	E	-	3	2	KCNH7	162949499	0.991000	0.36638	0.275000	0.24674	0.645000	0.38454	1.246000	0.32803	0.077000	0.16863	-0.313000	0.08912	GAA		0.438	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1		NM_033272	
KRTAP9-2	83899	hgsc.bcm.edu	37	17	39383323	39383334	+	In_Frame_Del	DEL	CTGCTGCCAGCC	CTGCTGCCAGCC	-	rs201521857|rs542786200	byFrequency	TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	CTGCTGCCAGCC	CTGCTGCCAGCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr17:39383323_39383334delCTGCTGCCAGCC	ENST00000377721.3	+	1	424_435	c.417_428delCTGCTGCCAGCC	c.(415-429)aactgctgccagccc>aac	p.CCQP140del	KRTAP9-2_ENST00000455970.2_In_Frame_Del_p.CCQP124del	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9-2	140	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament (GO:0045095)				large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GTGGCTCCAACTGCTGCCAGCCCTGCTGCCGC	0.613														133	0.0265575	0.0038	0.0519	5008	,	,		19177	0.0		0.0646	False		,,,				2504	0.0276																0																																										SO:0001651	inframe_deletion	83899			AJ406946	CCDS32651.1	17q21.2	2013-06-25			ENSG00000239886	ENSG00000239886		"""Keratin associated proteins"""	16926	protein-coding gene	gene with protein product						11279113	Standard	NM_031961		Approved	KAP9.2	uc002hwf.3	Q9BYQ4	OTTHUMG00000133609	ENST00000377721.3:c.417_428delCTGCTGCCAGCC	17.37:g.39383323_39383334delCTGCTGCCAGCC	ENSP00000366950:p.Cys140_Pro143del		Q17RK8|Q2TB15|Q6ISF6	In_Frame_Del	DEL	ENST00000377721.3	37	CCDS32651.1																																																																																				0.613	KRTAP9-2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257717.1			
LAMA5	3911	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	60895846	60895846	+	Silent	SNP	G	G	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr20:60895846G>A	ENST00000252999.3	-	49	6663	c.6597C>T	c.(6595-6597)tcC>tcT	p.S2199S		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2199	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)	p.S2199S(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CCCAGGCCATGGAGCTGGCAT	0.662																																																	1	Substitution - coding silent(1)	kidney(1)											48.0	43.0	45.0					20																	60895846		2179	4280	6459	SO:0001819	synonymous_variant	3911			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.6597C>T	20.37:g.60895846G>A			Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	CCDS33502.1																																																																																				0.662	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2		NM_005560	
LENG9	94059	broad.mit.edu;ucsc.edu	37	19	54973869	54973869	+	Missense_Mutation	SNP	G	G	C	rs373957553		TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr19:54973869G>C	ENST00000333834.4	-	1	1025	c.907C>G	c.(907-909)Ccc>Gcc	p.P303A		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	303							catalytic activity (GO:0003824)|metal ion binding (GO:0046872)	p.P281A(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		TTGTCCTCGGGCCAGGCCGCA	0.662																																																	1	Substitution - Missense(1)	kidney(1)											36.0	38.0	38.0					19																	54973869		2203	4300	6503	SO:0001583	missense	94059			AF211976		19q13.4	2014-05-06			ENSG00000182909	ENSG00000275183			16306	protein-coding gene	gene with protein product						10941842	Standard	NM_198988		Approved		uc010yez.2	Q96B70	OTTHUMG00000188273	ENST00000333834.4:c.907C>G	19.37:g.54973869G>C	ENSP00000331647:p.Pro303Ala		B2VAM3	Missense_Mutation	SNP	ENST00000333834.4	37	CCDS12895.2	.	.	.	.	.	.	.	.	.	.	G	6.460	0.452961	0.12283	.	.	ENSG00000182909	ENST00000333834	T	0.32988	1.43	2.83	-1.41	0.08941	.	0.397506	0.18072	U	0.152585	T	0.15392	0.0371	L	0.32530	0.975	0.09310	N	1	B	0.21452	0.056	B	0.19148	0.024	T	0.12293	-1.0553	10	0.33940	T	0.23	-0.8068	0.5313	0.00629	0.1924:0.2323:0.3393:0.2361	.	303	Q96B70	LENG9_HUMAN	A	303	ENSP00000331647:P303A	ENSP00000331647:P303A	P	-	1	0	LENG9	59665681	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.252000	0.08806	-0.205000	0.10219	0.555000	0.69702	CCC		0.662	LENG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140806.3		NM_198988	
LMBR1L	55716	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	49495927	49495927	+	Silent	SNP	A	A	G			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr12:49495927A>G	ENST00000267102.8	-	11	1248	c.906T>C	c.(904-906)gcT>gcC	p.A302A	LMBR1L_ENST00000395141.4_Silent_p.A297A|LMBR1L_ENST00000547382.1_Silent_p.A302A|LMBR1L_ENST00000553204.1_5'Flank	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	302					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A297A(1)|p.A302A(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGCACAGCATAGCCAGGGGGT	0.607																																																	2	Substitution - coding silent(2)	kidney(2)											104.0	93.0	96.0					12																	49495927		2203	4300	6503	SO:0001819	synonymous_variant	55716			AB033000	CCDS8780.2, CCDS73466.1	12q13.12	2013-08-05	2013-08-05		ENSG00000139636	ENSG00000139636			18268	protein-coding gene	gene with protein product		610007	"""limb region 1 homolog (mouse)-like"""			10574461, 11287427	Standard	XM_005269022		Approved	FLJ10494, KIAA1174	uc001rth.4	Q6UX01	OTTHUMG00000150511	ENST00000267102.8:c.906T>C	12.37:g.49495927A>G			Q969J4|Q96BY8|Q96HN8|Q9NT09|Q9NVE1|Q9NVU9|Q9ULP6	Silent	SNP	ENST00000267102.8	37	CCDS8780.2																																																																																				0.607	LMBR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318696.1		NM_018113	
LOXHD1	125336	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	44137417	44137417	+	Silent	SNP	C	C	T			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr18:44137417C>T	ENST00000398722.4	-	14	2417	c.2418G>A	c.(2416-2418)ggG>ggA	p.G806G	LOXHD1_ENST00000582408.1_5'UTR|LOXHD1_ENST00000441551.2_Silent_p.G878G|LOXHD1_ENST00000300591.6_5'UTR|LOXHD1_ENST00000579038.1_5'Flank|LOXHD1_ENST00000536736.1_Silent_p.G1084G|LOXHD1_ENST00000441893.2_Silent_p.G17G			Q8IVV2	LOXH1_HUMAN	lipoxygenase homology domains 1	806	PLAT 6. {ECO:0000255|PROSITE- ProRule:PRU00152}.				calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|sensory perception of sound (GO:0007605)	membrane (GO:0016020)|stereocilium (GO:0032420)	calcium channel activity (GO:0005262)	p.G806G(1)|p.G1084G(1)		NS(3)|autonomic_ganglia(1)|breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|pancreas(1)|prostate(4)|skin(4)|stomach(1)	36						TGGTCAGGGCCCCCAGGTCAA	0.557																																																	2	Substitution - coding silent(2)	kidney(2)											233.0	211.0	218.0					18																	44137417		692	1591	2283	SO:0001819	synonymous_variant	125336			AK057232	CCDS45861.1, CCDS45862.1, CCDS54184.1	18q21.1	2009-09-11			ENSG00000167210	ENSG00000167210			26521	protein-coding gene	gene with protein product		613072	"""deafness, autosomal recessive 77"""	DFNB77		19732867	Standard	NM_144612		Approved	FLJ32670, LH2D1	uc010xcw.1	Q8IVV2	OTTHUMG00000132644	ENST00000398722.4:c.2418G>A	18.37:g.44137417C>T			B7WNN3|B7WNT1|B7WPI9|Q6ZRY7|Q86WW9|Q96DL7	Silent	SNP	ENST00000398722.4	37		.	.	.	.	.	.	.	.	.	.	C	7.672	0.687159	0.14973	.	.	ENSG00000167210	ENST00000441551	.	.	.	5.21	0.177	0.15054	.	0.000000	0.85682	D	0.000000	T	0.48995	0.1531	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	T	0.44112	-0.9349	6	0.62326	D	0.03	.	1.4924	0.02459	0.1204:0.3601:0.2353:0.2842	.	.	.	.	S	1065	.	ENSP00000387621:G1065S	G	-	1	0	LOXHD1	42391415	0.000000	0.05858	0.754000	0.31244	0.913000	0.54294	-1.495000	0.02294	-0.026000	0.13895	-0.424000	0.05967	GGC		0.557	LOXHD1-201	KNOWN	basic	protein_coding	protein_coding			NM_144612	
MCM3AP	8888	broad.mit.edu;ucsc.edu	37	21	47685911	47685911	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr21:47685911T>A	ENST00000397708.1	-	12	3213	c.2959A>T	c.(2959-2961)Aac>Tac	p.N987Y	MCM3AP_ENST00000291688.1_Missense_Mutation_p.N987Y			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	987	SAC3 homology.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)	p.N987Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					ATGTACTTGTTCTGGGAGTTG	0.607																																																	1	Substitution - Missense(1)	kidney(1)											102.0	107.0	106.0					21																	47685911		2203	4300	6503	SO:0001583	missense	8888			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.2959A>T	21.37:g.47685911T>A	ENSP00000380820:p.Asn987Tyr		C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.029397	0.75504	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.04454	3.62;3.62	5.67	3.26	0.37387	.	0.079888	0.85682	D	0.000000	T	0.12987	0.0315	M	0.61703	1.905	0.48087	D	0.999587	D	0.64830	0.994	P	0.62089	0.898	T	0.02037	-1.1225	10	0.34782	T	0.22	-24.2391	8.3183	0.32113	0.0:0.0689:0.1336:0.7975	.	987	O60318	MCM3A_HUMAN	Y	987	ENSP00000380820:N987Y;ENSP00000291688:N987Y	ENSP00000291688:N987Y	N	-	1	0	MCM3AP	46510339	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.756000	0.62205	0.408000	0.25621	0.533000	0.62120	AAC		0.607	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1		NM_003906	
MGAT5	4249	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	135012082	135012082	+	Silent	SNP	G	G	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr2:135012082G>A	ENST00000409645.1	+	2	360	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MGAT5_ENST00000281923.2_Silent_p.Q36Q|MGAT5_ENST00000468758.1_3'UTR			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	36					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)	p.Q36Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		CCATCCAGCAGCGAACTCAGC	0.512																																																	1	Substitution - coding silent(1)	kidney(1)											119.0	104.0	109.0					2																	135012082		2203	4300	6503	SO:0001819	synonymous_variant	4249			D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.108G>A	2.37:g.135012082G>A			D3DP70	Silent	SNP	ENST00000409645.1	37	CCDS2171.1																																																																																				0.512	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3		NM_002410	
PLEKHA3	65977	hgsc.bcm.edu;ucsc.edu	37	2	179344242	179344242	+	5'Flank	SNP	C	C	G			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr2:179344242C>G	ENST00000234453.5	+	0	0				FKBP7_ENST00000434643.2_5'Flank|FKBP7_ENST00000424785.2_5'Flank|FKBP7_ENST00000464248.1_5'Flank	NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3							Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			tattacatatccatccatcac	0.388											OREG0015105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													124.0	108.0	113.0					2																	179344242		692	1591	2283	SO:0001631	upstream_gene_variant	100302152			AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"""Pleckstrin homology (PH) domain containing"""	14338	protein-coding gene	gene with protein product	"""four-phosphate-adaptor protein 1"""	607774	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"""			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446		2.37:g.179344242C>G	Exception_encountered	1953	Q4ZG69|Q86TQ1|Q9NXT3	RNA	SNP	ENST00000234453.5	37	CCDS33336.1																																																																																				0.388	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335241.2		NM_019091	
KMT2D	8085	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	49436557	49436558	+	Missense_Mutation	DNP	TG	TG	CC			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T|G	T|G	T|G	C	T|G	T|G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr12:49436557_49436558TG>CC	ENST00000301067.7	-	26	5747_5748	c.5748_5749CA>GG	c.(5746-5751)ggCAgc>ggGGgc	p.S1917G		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1917					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G1916G(1)|p.S1917G(1)|p.S1647G(1)|p.G1646G(1)									GGCGTACGGCTGCCTTCTAGGC	0.55																																																	4	Substitution - Missense(2)|Substitution - coding silent(2)	kidney(4)																																								SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.5748_5749delinsCC	12.37:g.49436557_49436558delinsCC	ENSP00000301067:p.Ser1917Gly		O14687	Missense_Mutation|Silent	SNP	ENST00000301067.7	37	CCDS44873.1																																																																																				0.550	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			
MOB3C	148932	broad.mit.edu	37	1	47075867	47075867	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr1:47075867A>T	ENST00000319928.3	-	3	658	c.428T>A	c.(427-429)tTc>tAc	p.F143Y	MOB3C_ENST00000271139.8_Missense_Mutation_p.F195Y|MOB3C_ENST00000371940.1_Missense_Mutation_p.F166Y|MOB3C_ENST00000477318.1_5'UTR|MKNK1_ENST00000545730.1_Intron	NM_201403.2	NP_958805.1	Q70IA8	MOB3C_HUMAN	MOB kinase activator 3C	143							metal ion binding (GO:0046872)	p.F195Y(1)									GTTCTTAGGGAAGGGAACTCC	0.552																																																	1	Substitution - Missense(1)	kidney(1)											59.0	56.0	57.0					1																	47075867		2203	4300	6503	SO:0001583	missense	0			AK091808	CCDS539.1, CCDS540.1	1p34.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000142961	ENSG00000142961		"""MOB kinase activators"""	29800	protein-coding gene	gene with protein product			"""MOB1, Mps One Binder kinase activator-like 2C (yeast)"""	MOBKL2C		12477932	Standard	NM_145279		Approved	MOB1E	uc001cqe.4	Q70IA8	OTTHUMG00000007989	ENST00000319928.3:c.428T>A	1.37:g.47075867A>T	ENSP00000315113:p.Phe143Tyr		D3DQ22|Q0VA98|Q5TC10|Q5TC11|Q8NAZ2|Q8NF28	Missense_Mutation	SNP	ENST00000319928.3	37	CCDS540.1	.	.	.	.	.	.	.	.	.	.	A	34	5.356331	0.95854	.	.	ENSG00000142961	ENST00000319928;ENST00000271139;ENST00000371940	.	.	.	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.77301	0.4110	M	0.81802	2.56	0.80722	D	1	D	0.62365	0.991	P	0.61397	0.888	T	0.80439	-0.1382	9	0.56958	D	0.05	-30.3237	14.2729	0.66162	1.0:0.0:0.0:0.0	.	143	Q70IA8	MOB3C_HUMAN	Y	143;195;166	.	ENSP00000271139:F195Y	F	-	2	0	MOBKL2C	46848454	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.327000	0.96396	2.024000	0.59613	0.379000	0.24179	TTC		0.552	MOB3C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_145279	
MUC15	143662	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	26582750	26582750	+	Silent	SNP	C	C	T	rs201499877		TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr11:26582750C>T	ENST00000455601.2	-	4	985	c.867G>A	c.(865-867)ccG>ccA	p.P289P	MUC15_ENST00000529533.1_Silent_p.P316P|MUC15_ENST00000527569.1_Silent_p.P266P|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000436318.2_Silent_p.P316P|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000281268.8_Silent_p.P266P|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000529242.1_Intron	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	289					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P289P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						CATAAGGTTCCGGTGCATTGT	0.383													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16320	0.0		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	kidney(1)											127.0	114.0	119.0					11																	26582750		2203	4300	6503	SO:0001819	synonymous_variant	143662			AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"""Mucins"""	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.867G>A	11.37:g.26582750C>T			B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Silent	SNP	ENST00000455601.2	37	CCDS7859.1																																																																																				0.383	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387866.1		NM_145650	
MUC16	94025	hgsc.bcm.edu	37	19	9048364	9048369	+	In_Frame_Del	DEL	AGTTGG	AGTTGG	-	rs184817144	byFrequency	TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	AGTTGG	AGTTGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr19:9048364_9048369delAGTTGG	ENST00000397910.4	-	5	33465_33470	c.33262_33267delCCAACT	c.(33262-33267)ccaactdel	p.PT11088del		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11090	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P11088Q(1)|p.P6721Q(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGGTGAAACAGTTGGAGTTGGAACA	0.485																																																	2	Substitution - Missense(2)	lung(2)																																								SO:0001651	inframe_deletion	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.33262_33267delCCAACT	19.37:g.9048370_9048375delAGTTGG	ENSP00000381008:p.Pro11088_Thr11089del		Q6ZQW5|Q96RK2	In_Frame_Del	DEL	ENST00000397910.4	37	CCDS54212.1																																																																																				0.485	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690	
MUC17	140453	hgsc.bcm.edu;ucsc.edu	37	7	100678377	100678378	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr7:100678377_100678378insC	ENST00000306151.4	+	3	3744_3745	c.3680_3681insC	c.(3679-3684)agacacfs	p.RH1227fs		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1227	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ATGCCTGTCAGACACACGCCAG	0.515																																																	0																																										SO:0001589	frameshift_variant	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	Exception_encountered	7.37:g.100678377_100678378insC	ENSP00000302716:p.Arg1227fs		O14761|Q685J2|Q8TDH7	Frame_Shift_Ins	INS	ENST00000306151.4	37	CCDS34711.1																																																																																				0.515	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1		NM_001040105	
MUC17	140453	hgsc.bcm.edu;ucsc.edu	37	7	100678380	100678380	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr7:100678380delA	ENST00000306151.4	+	3	3747	c.3683delA	c.(3682-3684)cacfs	p.H1228fs		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1228	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTGTCAGACACACGCCAGTG	0.517																																																	0													312.0	294.0	300.0					7																	100678380		2203	4300	6503	SO:0001589	frameshift_variant	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3683delA	7.37:g.100678380delA	ENSP00000302716:p.His1228fs		O14761|Q685J2|Q8TDH7	Frame_Shift_Del	DEL	ENST00000306151.4	37	CCDS34711.1																																																																																				0.517	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1		NM_001040105	
MYH1	4619	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	10404734	10404734	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr17:10404734G>A	ENST00000226207.5	-	27	3525	c.3431C>T	c.(3430-3432)tCc>tTc	p.S1144F	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1144					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.S1144F(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CAGCTCCCGGGAGAGATCAGA	0.597																																																	1	Substitution - Missense(1)	kidney(1)											56.0	63.0	61.0					17																	10404734		2203	4299	6502	SO:0001583	missense	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3431C>T	17.37:g.10404734G>A	ENSP00000226207:p.Ser1144Phe		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.997303	0.93167	.	.	ENSG00000109061	ENST00000226207	D	0.83419	-1.72	5.3	5.3	0.74995	Myosin tail (1);	0.000000	0.42964	U	0.000627	D	0.88104	0.6347	M	0.87269	2.87	0.80722	D	1	B	0.22541	0.071	B	0.33454	0.164	D	0.86811	0.1998	10	0.87932	D	0	.	19.3291	0.94278	0.0:0.0:1.0:0.0	.	1144	P12882	MYH1_HUMAN	F	1144	ENSP00000226207:S1144F	ENSP00000226207:S1144F	S	-	2	0	MYH1	10345459	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.788000	0.99064	2.641000	0.89580	0.650000	0.86243	TCC		0.597	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1		NM_005963	
MYO18A	399687	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	27438508	27438508	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr17:27438508C>A	ENST00000527372.1	-	17	3014	c.2834G>T	c.(2833-2835)tGg>tTg	p.W945L	MYO18A_ENST00000531253.1_Missense_Mutation_p.W945L|MYO18A_ENST00000533112.1_Missense_Mutation_p.W945L|MYO18A_ENST00000354329.4_Missense_Mutation_p.W945L	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	945	Myosin motor.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)	p.W945L(2)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GTAGTTCAGCCAGCCAGTCAC	0.592											OREG0024287	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(182;472 2015 7001 15270 22562)												2	Substitution - Missense(2)	kidney(2)											118.0	119.0	119.0					17																	27438508		2022	4182	6204	SO:0001583	missense	399687			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.2834G>T	17.37:g.27438508C>A	ENSP00000437073:p.Trp945Leu	794	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.003567	0.93287	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000458428	D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15	5.29	5.29	0.74685	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.94532	0.8239	M	0.86953	2.85	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.99;0.997;0.997;0.997;0.999	D	0.95232	0.8343	10	0.87932	D	0	.	18.9329	0.92574	0.0:1.0:0.0:0.0	.	614;557;945;945;945	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	L	945;945;945;945;945;557	ENSP00000346291:W945L;ENSP00000435932:W945L;ENSP00000434228:W945L;ENSP00000437073:W945L	ENSP00000346291:W945L	W	-	2	0	MYO18A	24462634	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	7.399000	0.79935	2.468000	0.83385	0.563000	0.77884	TGG		0.592	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1		NM_078471	
MYO18A	399687	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	27438520	27438520	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr17:27438520T>G	ENST00000527372.1	-	17	3002	c.2822A>C	c.(2821-2823)aAt>aCt	p.N941T	MYO18A_ENST00000531253.1_Missense_Mutation_p.N941T|MYO18A_ENST00000533112.1_Missense_Mutation_p.N941T|MYO18A_ENST00000354329.4_Missense_Mutation_p.N941T	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	941	Myosin motor.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)	p.N941T(2)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GCCAGTCACATTGTACTCTAC	0.592											OREG0024287	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(182;472 2015 7001 15270 22562)												2	Substitution - Missense(2)	kidney(2)											118.0	122.0	121.0					17																	27438520		2045	4196	6241	SO:0001583	missense	399687			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.2822A>C	17.37:g.27438520T>G	ENSP00000437073:p.Asn941Thr	794	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	T	13.89	2.371312	0.42003	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000458428	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.29	4.22	0.49857	Myosin head, motor domain (2);	0.207796	0.49916	D	0.000122	T	0.70090	0.3184	L	0.46885	1.475	0.36559	D	0.872339	B;P;P;P;P	0.46142	0.1;0.873;0.873;0.873;0.837	B;B;P;B;P	0.49683	0.087;0.367;0.461;0.367;0.619	T	0.74153	-0.3757	10	0.46703	T	0.11	.	10.9548	0.47351	0.0:0.0737:0.0:0.9263	.	610;553;941;941;941	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	T	941;941;941;941;941;553	ENSP00000346291:N941T;ENSP00000435932:N941T;ENSP00000434228:N941T;ENSP00000437073:N941T	ENSP00000346291:N941T	N	-	2	0	MYO18A	24462646	1.000000	0.71417	0.724000	0.30704	0.470000	0.32858	5.894000	0.69806	0.855000	0.35359	-0.376000	0.06991	AAT		0.592	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1		NM_078471	
NAV2	89797	broad.mit.edu;ucsc.edu	37	11	20078104	20078104	+	Silent	SNP	C	C	T			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr11:20078104C>T	ENST00000396087.3	+	21	5028	c.4929C>T	c.(4927-4929)aaC>aaT	p.N1643N	NAV2_ENST00000540292.1_Silent_p.N1574N|NAV2_ENST00000396085.1_Intron|NAV2_ENST00000349880.4_Intron|NAV2_ENST00000311043.8_Intron|NAV2_ENST00000533917.1_Intron|NAV2_ENST00000527559.2_Silent_p.N1572N|NAV2_ENST00000360655.4_Intron	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1643	Ser-rich.				glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.N1643N(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CTGTGGACAACTTTGTCAGCC	0.398																																																	1	Substitution - coding silent(1)	kidney(1)											155.0	147.0	150.0					11																	20078104		2203	4300	6503	SO:0001819	synonymous_variant	89797			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.4929C>T	11.37:g.20078104C>T			A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	CCDS58126.1																																																																																				0.398	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1		NM_145117	
NEK9	91754	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	75553771	75553771	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr14:75553771T>C	ENST00000238616.5	-	21	2925	c.2767A>G	c.(2767-2769)Att>Gtt	p.I923V	NEK9_ENST00000555763.1_5'Flank	NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	923					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.I923V(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		TGGGTAAAAATCTGGAGGTTT	0.443																																																	1	Substitution - Missense(1)	kidney(1)											122.0	126.0	125.0					14																	75553771		2203	4300	6503	SO:0001583	missense	91754			AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"""NIMA (never in mitosis gene a)- related kinase 9"""			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.2767A>G	14.37:g.75553771T>C	ENSP00000238616:p.Ile923Val		Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Missense_Mutation	SNP	ENST00000238616.5	37	CCDS9839.1	.	.	.	.	.	.	.	.	.	.	T	14.55	2.568973	0.45798	.	.	ENSG00000119638	ENST00000238616	T	0.71222	-0.55	6.17	5.03	0.67393	.	0.294745	0.30185	N	0.010207	T	0.53206	0.1782	N	0.19112	0.55	0.22226	N	0.999275	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.47799	-0.9089	10	0.56958	D	0.05	.	7.254	0.26166	0.0:0.0767:0.1887:0.7346	.	923;266	Q8TD19;Q6PKF2	NEK9_HUMAN;.	V	923	ENSP00000238616:I923V	ENSP00000238616:I923V	I	-	1	0	NEK9	74623524	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.856000	0.48341	1.149000	0.42402	0.533000	0.62120	ATT		0.443	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415021.1		NM_033116	
NOTCH2	4853	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	120497758	120497758	+	Silent	SNP	G	G	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr1:120497758G>A	ENST00000256646.2	-	13	2343	c.2124C>T	c.(2122-2124)tgC>tgT	p.C708C		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	708	EGF-like 18; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.C708C(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTCCCTCGGGGCATATACAGC	0.532			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																															Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	1	Substitution - coding silent(1)	kidney(1)											181.0	136.0	151.0					1																	120497758		2203	4300	6503	SO:0001819	synonymous_variant	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.2124C>T	1.37:g.120497758G>A			Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	CCDS908.1																																																																																				0.532	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1		NM_024408	
NR4A1	3164	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	52448382	52448382	+	Silent	SNP	G	G	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr12:52448382G>A	ENST00000243050.1	+	3	584	c.270G>A	c.(268-270)tcG>tcA	p.S90S	NR4A1_ENST00000394824.2_Silent_p.S90S|NR4A1_ENST00000548232.1_Silent_p.S90S|NR4A1_ENST00000550082.1_Silent_p.S103S|NR4A1_ENST00000360284.3_Silent_p.S103S|NR4A1_ENST00000394825.1_Silent_p.S90S|NR4A1_ENST00000547206.1_3'UTR|NR4A1_ENST00000545748.1_Silent_p.S144S	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	90	Poly-Ser.				cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.S90S(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		ccacatcctcgtcctcagcca	0.637																																																	1	Substitution - coding silent(1)	kidney(1)											116.0	93.0	101.0					12																	52448382		2203	4300	6503	SO:0001819	synonymous_variant	3164			L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"""Nuclear hormone receptors"""	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.270G>A	12.37:g.52448382G>A			B4DML7|Q15627|Q53Y00|Q6IBU8	Silent	SNP	ENST00000243050.1	37	CCDS8818.1																																																																																				0.637	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317922.2			
NR2C1	7181	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	95422176	95422176	+	Silent	SNP	T	T	C			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr12:95422176T>C	ENST00000333003.5	-	12	1848	c.1518A>G	c.(1516-1518)gtA>gtG	p.V506V	NR2C1_ENST00000545833.1_5'Flank	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	506					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.V506V(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						GACTGAAGAGTACTATTGCCT	0.358																																																	1	Substitution - coding silent(1)	kidney(1)											104.0	93.0	97.0					12																	95422176		2203	4300	6503	SO:0001819	synonymous_variant	7181			M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"""Nuclear hormone receptors"""	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.1518A>G	12.37:g.95422176T>C			A8K5K4|Q15625|Q15626	Silent	SNP	ENST00000333003.5	37	CCDS9051.1																																																																																				0.358	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2		NM_003297	
NUDT12	83594	hgsc.bcm.edu;ucsc.edu	37	5	102894735	102894736	+	In_Frame_Ins	INS	-	-	CAG			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr5:102894735_102894736insCAG	ENST00000230792.2	-	3	736_737	c.640_641insCTG	c.(640-642)ggt>gCTGgt	p.213_214insA	NUDT12_ENST00000515407.1_5'Flank|NUDT12_ENST00000507423.1_In_Frame_Ins_p.195_196insA	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	213					NAD catabolic process (GO:0019677)|NADP catabolic process (GO:0006742)	nucleus (GO:0005634)|peroxisome (GO:0005777)	metal ion binding (GO:0046872)|NAD+ diphosphatase activity (GO:0000210)|NADH pyrophosphatase activity (GO:0035529)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		CGGGACTTCACCAGCATAATTA	0.391																																																	0																																										SO:0001652	inframe_insertion	83594			AL136592	CCDS4096.1, CCDS75284.1	5q15	2013-01-10			ENSG00000112874	ENSG00000112874		"""Nudix motif containing"", ""Ankyrin repeat domain containing"""	18826	protein-coding gene	gene with protein product	"""nucleoside diphosphate linked moiety X-type motif 12"""	609232				11230166	Standard	XM_005272095		Approved	DKFZP761I172	uc003koi.3	Q9BQG2	OTTHUMG00000128739	ENST00000230792.2:c.638_640dupCTG	5.37:g.102894736_102894738dupCAG	ENSP00000230792:p.Ala213_Ala213dup		B3KUW2|Q8TAL7	In_Frame_Ins	INS	ENST00000230792.2	37	CCDS4096.1																																																																																				0.391	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250650.1		NM_031438	
OR4F6	390648	hgsc.bcm.edu;ucsc.edu	37	15	102346601	102346601	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr15:102346601delA	ENST00000328882.4	+	1	700	c.679delA	c.(679-681)aaafs	p.K228fs		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			GACTGTTCAGAAAAAATCTTC	0.348																																																	0													135.0	136.0	136.0					15																	102346601		2202	4300	6502	SO:0001589	frameshift_variant	390648			AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"""GPCR / Class A : Olfactory receptors"""	15372	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily F, member 12"""	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.679delA	15.37:g.102346601delA	ENSP00000327525:p.Lys228fs		B9EH28|Q6IF95	Frame_Shift_Del	DEL	ENST00000328882.4	37	CCDS32341.1																																																																																				0.348	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417593.1			
PABPC1	26986	broad.mit.edu;hgsc.bcm.edu	37	8	101725345	101725345	+	Silent	SNP	T	T	G			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr8:101725345T>G	ENST00000318607.5	-	5	1836	c.708A>C	c.(706-708)gtA>gtC	p.V236V	PABPC1_ENST00000519004.1_Silent_p.V191V|PABPC1_ENST00000522387.1_Silent_p.V204V|PABPC1_ENST00000519596.1_5'UTR	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	236	CSDE1-binding.|RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)	p.V236V(1)		breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TTTCAAAGCTTACAAATCCAA	0.368																																																	1	Substitution - coding silent(1)	kidney(1)											71.0	65.0	67.0					8																	101725345		2203	4300	6503	SO:0001819	synonymous_variant	26986			Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.708A>C	8.37:g.101725345T>G			Q15097|Q93004	Silent	SNP	ENST00000318607.5	37	CCDS6289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.74|10.74	1.434730|1.434730	0.25813|0.25813	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000519596|ENST00000519100	.|.	.|.	.|.	4.97|4.97	-3.53|-3.53	0.04667|0.04667	.|.	.|.	.|.	.|.	.|.	T|.	0.38746|.	0.1052|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.36720|.	-0.9736|.	4|.	.|.	.|.	.|.	.|.	1.9476|1.9476	0.03360|0.03360	0.1726:0.403:0.2156:0.2088|0.1726:0.403:0.2156:0.2088	.|.	.|.	.|.	.|.	Q|S	69|105	.|.	.|.	K|X	-|-	1|2	0|2	PABPC1|PABPC1	101794521|101794521	0.959000|0.959000	0.32827|0.32827	0.995000|0.995000	0.50966|0.50966	0.996000|0.996000	0.88848|0.88848	0.022000|0.022000	0.13511|0.13511	-0.346000|-0.346000	0.08312|0.08312	0.383000|0.383000	0.25322|0.25322	AAG|TAA		0.368	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1		NM_002568	
PABPC1	26986	broad.mit.edu;hgsc.bcm.edu	37	8	101725366	101725366	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr8:101725366T>A	ENST00000318607.5	-	5	1815	c.687A>T	c.(685-687)aaA>aaT	p.K229N	PABPC1_ENST00000519004.1_Missense_Mutation_p.K184N|PABPC1_ENST00000522387.1_Missense_Mutation_p.K197N|PABPC1_ENST00000519596.1_5'UTR	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	229	CSDE1-binding.|RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)	p.K229N(1)		breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			ATCCTTTGGATTTTCCACTTT	0.358																																																	1	Substitution - Missense(1)	kidney(1)											59.0	56.0	57.0					8																	101725366		2203	4300	6503	SO:0001583	missense	26986			Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.687A>T	8.37:g.101725366T>A	ENSP00000313007:p.Lys229Asn		Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	16.89|16.89|16.89	3.248509|3.248509|3.248509	0.59103|0.59103|0.59103	.|.|.	.|.|.	ENSG00000070756|ENSG00000070756|ENSG00000070756	ENST00000519596|ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387|ENST00000519100	.|D;D;T|.	.|0.93712|.	.|-3.27;-3.27;2.26|.	4.97|4.97|4.97	4.97|4.97|4.97	0.65823|0.65823|0.65823	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	.|0.000000|.	.|0.64402|.	.|U|.	.|0.000012|.	T|T|T	0.54695|0.54695|0.54695	0.1874|0.1874|0.1874	L|L|L	0.41236|0.41236|0.41236	1.265|1.265|1.265	0.58432|0.58432|0.58432	D|D|D	0.999992|0.999992|0.999992	.|B;B;B|.	.|0.22909|.	.|0.012;0.077;0.069|.	.|B;B;B|.	.|0.39152|.	.|0.075;0.292;0.272|.	T|T|T	0.52162|0.52162|0.52162	-0.8612|-0.8612|-0.8612	5|10|5	.|0.62326|.	.|D|.	.|0.03|.	.|.|.	9.494|9.494|9.494	0.38978|0.38978|0.38978	0.0:0.0802:0.0:0.9198|0.0:0.0802:0.0:0.9198|0.0:0.0802:0.0:0.9198	.|.|.	.|197;229;229|.	.|E7ERJ7;B3KT93;P11940|.	.|.;.;PABP1_HUMAN|.	F|N|I	62|229;229;184;197|98	.|ENSP00000313007:K229N;ENSP00000429594:K184N;ENSP00000429395:K197N|.	.|ENSP00000313007:K229N|.	I|K|N	-|-|-	1|3|2	0|2|0	PABPC1|PABPC1|PABPC1	101794542|101794542|101794542	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.992000|0.992000|0.992000	0.81027|0.81027|0.81027	2.874000|2.874000|2.874000	0.48483|0.48483|0.48483	1.992000|1.992000|1.992000	0.58205|0.58205|0.58205	0.383000|0.383000|0.383000	0.25322|0.25322|0.25322	ATC|AAA|AAT		0.358	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1		NM_002568	
PAPOLG	64895	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	61021866	61021866	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr2:61021866delT	ENST00000238714.3	+	20	2260	c.2011delT	c.(2011-2013)tttfs	p.F671fs		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	671					mRNA polyadenylation (GO:0006378)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			TGAATCAACATTTAAGGACCC	0.303																																					GBM(183;1497 2932 21839 46797)												0													65.0	68.0	67.0					2																	61021866		2202	4292	6494	SO:0001589	frameshift_variant	64895			AC012498	CCDS1863.1	2p16.1	2008-02-08			ENSG00000115421	ENSG00000115421	2.7.7.19		14982	protein-coding gene	gene with protein product							Standard	NM_022894		Approved	FLJ12972	uc002sai.3	Q9BWT3	OTTHUMG00000129419	ENST00000238714.3:c.2011delT	2.37:g.61021866delT	ENSP00000238714:p.Phe671fs		B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0	Frame_Shift_Del	DEL	ENST00000238714.3	37	CCDS1863.1																																																																																				0.303	PAPOLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251577.3		NM_022894	
PARP10	84875	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	145059205	145059205	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr8:145059205G>A	ENST00000313028.7	-	5	1059	c.965C>T	c.(964-966)aCa>aTa	p.T322I	PARP10_ENST00000524918.1_Missense_Mutation_p.T322I|PARP10_ENST00000533665.1_5'UTR|PARP10_ENST00000525773.1_Missense_Mutation_p.T334I	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	322					negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.T322I(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCAGAGCCTGTTGTCATAAT	0.622																																																	1	Substitution - Missense(1)	kidney(1)											81.0	80.0	80.0					8																	145059205		2203	4300	6503	SO:0001583	missense	84875			AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.965C>T	8.37:g.145059205G>A	ENSP00000325618:p.Thr322Ile		Q8N2I0|Q8WV05|Q96CH7|Q96K72	Missense_Mutation	SNP	ENST00000313028.7	37	CCDS34960.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.480997	0.26598	.	.	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773;ENST00000313059	T;T;T;T	0.30981	2.95;2.94;2.94;1.51	0.999	-0.0451	0.13853	.	.	.	.	.	T	0.13329	0.0323	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.0	T	0.22347	-1.0219	9	0.59425	D	0.04	.	2.9507	0.05861	0.3953:0.0:0.6047:0.0	.	334;322;322	E9PNI7;E9PK67;Q53GL7	.;.;PAR10_HUMAN	I	322;28;322;334;237	ENSP00000431620:T322I;ENSP00000325618:T322I;ENSP00000434776:T334I;ENSP00000314320:T237I	ENSP00000325618:T322I	T	-	2	0	PARP10	145131193	0.001000	0.12720	0.000000	0.03702	0.012000	0.07955	-0.128000	0.10531	-0.029000	0.13827	0.177000	0.17058	ACA		0.622	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1		NM_032789	
PCDHB6	56130	hgsc.bcm.edu;ucsc.edu	37	5	140529900	140529900	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr5:140529900delT	ENST00000231136.1	+	1	62	c.62delT	c.(61-63)cttfs	p.L21fs	PCDHB6_ENST00000543635.1_Intron	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	21					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTATTGATGCTTTGGGGAGAG	0.423																																																	0													177.0	176.0	176.0					5																	140529900		2203	4300	6503	SO:0001589	frameshift_variant	56130			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.62delT	5.37:g.140529900delT	ENSP00000231136:p.Leu21fs		B2R8R9	Frame_Shift_Del	DEL	ENST00000231136.1	37	CCDS4248.1																																																																																				0.423	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2		NM_018939	
PDE4C	5143	broad.mit.edu	37	19	18322678	18322678	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr19:18322678G>A	ENST00000355502.3	-	18	2553	c.1682C>T	c.(1681-1683)aCg>aTg	p.T561M	AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000262805.12_Missense_Mutation_p.T529M|PDE4C_ENST00000594465.3_Missense_Mutation_p.T561M|AC068499.10_ENST00000599416.2_RNA|PDE4C_ENST00000594617.3_Missense_Mutation_p.T561M|PDE4C_ENST00000447275.3_Missense_Mutation_p.T455M|PDE4C_ENST00000598111.2_Missense_Mutation_p.T276M|PDE4C_ENST00000539010.1_Missense_Mutation_p.T330M|PDE4C_ENST00000597297.1_Missense_Mutation_p.T331M			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	561					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)	p.T561M(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GATGCGGTCCGTCCACTGGCG	0.617																																																	1	Substitution - Missense(1)	kidney(1)											95.0	77.0	83.0					19																	18322678		2203	4300	6503	SO:0001583	missense	5143				CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"""Phosphodiesterases"""	8782	protein-coding gene	gene with protein product	"""phosphodiesterase E1 dunce homolog (Drosophila)"""	600128	"""phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"""	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.1682C>T	19.37:g.18322678G>A	ENSP00000347689:p.Thr561Met		B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Missense_Mutation	SNP	ENST00000355502.3	37	CCDS12373.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186100	0.78789	.	.	ENSG00000105650	ENST00000536045;ENST00000355502;ENST00000536507;ENST00000262805;ENST00000447275;ENST00000545961;ENST00000336173;ENST00000539010;ENST00000543547	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	4.85	4.85	0.62838	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.89206	0.6649	L	0.58302	1.8	0.48632	D	0.999688	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;1.0	D	0.90392	0.4396	10	0.87932	D	0	.	15.4628	0.75373	0.0:0.0:1.0:0.0	.	561;529;367;276	Q08493;Q08493-3;O43850;O76104	PDE4C_HUMAN;.;.;.	M	640;561;549;529;455;367;275;330;670	ENSP00000347689:T561M;ENSP00000262805:T529M;ENSP00000402091:T455M;ENSP00000439470:T330M	ENSP00000262805:T529M	T	-	2	0	PDE4C	18183678	1.000000	0.71417	0.928000	0.36995	0.543000	0.35085	9.377000	0.97184	2.249000	0.74217	0.561000	0.74099	ACG		0.617	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			
PDRG1	81572	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	30538174	30538174	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr20:30538174G>A	ENST00000202017.4	-	2	234	c.104C>T	c.(103-105)aCt>aTt	p.T35I		NM_030815.2	NP_110442.1	Q9NUG6	PDRG1_HUMAN	p53 and DNA-damage regulated 1	35					protein folding (GO:0006457)	cytoplasm (GO:0005737)|prefoldin complex (GO:0016272)		p.T35I(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	8			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ATTCCTTTTAGTGTCCAGGTC	0.527																																																	1	Substitution - Missense(1)	kidney(1)											83.0	81.0	82.0					20																	30538174		2203	4300	6503	SO:0001583	missense	81572			AL031658	CCDS13194.1	20q11.21	2009-06-12	2009-06-12	2004-10-07	ENSG00000088356	ENSG00000088356			16119	protein-coding gene	gene with protein product		610789	"""chromosome 20 open reading frame 126"""	C20orf126		14562055	Standard	NM_030815		Approved	dJ310O13.3	uc002wxd.3	Q9NUG6	OTTHUMG00000032196	ENST00000202017.4:c.104C>T	20.37:g.30538174G>A	ENSP00000202017:p.Thr35Ile		B2R511|Q96GP3|Q9BUW8	Missense_Mutation	SNP	ENST00000202017.4	37	CCDS13194.1	.	.	.	.	.	.	.	.	.	.	G	7.860	0.725861	0.15439	.	.	ENSG00000088356	ENST00000202017	T	0.46819	0.86	4.18	3.22	0.36961	Prefoldin beta-like (1);	0.936195	0.09135	N	0.843835	T	0.29158	0.0725	N	0.16478	0.41	0.27362	N	0.955934	B	0.19817	0.039	B	0.15870	0.014	T	0.09357	-1.0678	10	0.23302	T	0.38	-5.0751	7.1673	0.25698	0.1186:0.0:0.8814:0.0	.	35	Q9NUG6	PDRG1_HUMAN	I	35	ENSP00000202017:T35I	ENSP00000202017:T35I	T	-	2	0	PDRG1	30001835	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.722000	0.38042	2.302000	0.77476	0.563000	0.77884	ACT		0.527	PDRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078593.2		NM_030815	
PIK3R4	30849	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	130452841	130452841	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr3:130452841T>A	ENST00000356763.3	-	4	1558	c.1001A>T	c.(1000-1002)gAa>gTa	p.E334V		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	334					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E334V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						AAGAAACGTTTCCTTGGCAAA	0.428																																																	1	Substitution - Missense(1)	kidney(1)											101.0	102.0	102.0					3																	130452841		2203	4300	6503	SO:0001583	missense	30849			Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.1001A>T	3.37:g.130452841T>A	ENSP00000349205:p.Glu334Val		Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	T	15.96	2.987967	0.53934	.	.	ENSG00000196455	ENST00000356763	T	0.05925	3.37	6.16	6.16	0.99307	Armadillo-like helical (1);Armadillo-type fold (1);	0.049316	0.85682	D	0.000000	T	0.06690	0.0171	N	0.25890	0.77	0.80722	D	1	B	0.15141	0.012	B	0.10450	0.005	T	0.40251	-0.9573	10	0.30078	T	0.28	-34.5456	16.8061	0.85666	0.0:0.0:0.0:1.0	.	334	Q99570	PI3R4_HUMAN	V	334	ENSP00000349205:E334V	ENSP00000349205:E334V	E	-	2	0	PIK3R4	131935531	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	8.040000	0.89188	2.367000	0.80283	0.528000	0.53228	GAA		0.428	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1		NM_014602	
PKN3	29941	broad.mit.edu;ucsc.edu	37	9	131480826	131480826	+	Splice_Site	SNP	A	A	C			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr9:131480826A>C	ENST00000291906.4	+	18	2441		c.e18-1		PKN3_ENST00000485301.1_Splice_Site|ZDHHC12_ENST00000467312.1_5'Flank	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3						epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)	p.?(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						CCTTGCCCTCAGGGACCTGAA	0.602																																																	1	Unknown(1)	kidney(1)											96.0	93.0	94.0					9																	131480826		2203	4300	6503	SO:0001630	splice_region_variant	29941			AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.2049-1A>C	9.37:g.131480826A>C			Q9UM03	Splice_Site	SNP	ENST00000291906.4	37	CCDS6908.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.340488	0.81911	.	.	ENSG00000160447	ENST00000291906	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1805	0.65572	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PKN3	130520647	1.000000	0.71417	0.995000	0.50966	0.921000	0.55340	8.627000	0.90974	2.236000	0.73375	0.533000	0.62120	.		0.602	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1		NM_013355	Intron
PLXNB1	5364	broad.mit.edu	37	3	48461366	48461366	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr3:48461366C>G	ENST00000358536.4	-	11	2598	c.2329G>C	c.(2329-2331)Gac>Cac	p.D777H	PLXNB1_ENST00000296440.6_Missense_Mutation_p.D777H|PLXNB1_ENST00000358459.4_Intron|PLXNB1_ENST00000456774.1_Intron|PLXNB1_ENST00000448774.2_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	777	Pro-rich.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)	p.D777H(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGTCTGAAGTCAGTGGGGGCA	0.657																																																	1	Substitution - Missense(1)	kidney(1)											20.0	24.0	22.0					3																	48461366		2203	4299	6502	SO:0001583	missense	5364			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.2329G>C	3.37:g.48461366C>G	ENSP00000351338:p.Asp777His		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301877	0.40694	.	.	ENSG00000164050	ENST00000296440;ENST00000358536	T;T	0.03212	4.01;4.01	4.55	4.55	0.56014	.	2.666490	0.01316	N	0.010761	T	0.04497	0.0123	N	0.08118	0	0.80722	D	1	P	0.34462	0.454	B	0.36959	0.237	T	0.41998	-0.9477	10	0.44086	T	0.13	.	14.4689	0.67501	0.0:1.0:0.0:0.0	.	777	O43157	PLXB1_HUMAN	H	777	ENSP00000296440:D777H;ENSP00000351338:D777H	ENSP00000296440:D777H	D	-	1	0	PLXNB1	48436370	0.002000	0.14202	0.244000	0.24202	0.328000	0.28507	0.740000	0.26188	2.072000	0.62099	0.455000	0.32223	GAC		0.657	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1		NM_002673	
PRPF8	10594	broad.mit.edu;ucsc.edu	37	17	1564002	1564002	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr17:1564002T>A	ENST00000572621.1	-	28	4893	c.4628A>T	c.(4627-4629)aAt>aTt	p.N1543I	PRPF8_ENST00000304992.6_Missense_Mutation_p.N1543I			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1543	Linker.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)	p.N1543I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ATTGGCTCGATTAATGGTCGG	0.493																																																	1	Substitution - Missense(1)	kidney(1)											109.0	103.0	105.0					17																	1564002		2203	4300	6503	SO:0001583	missense	10594			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.4628A>T	17.37:g.1564002T>A	ENSP00000460348:p.Asn1543Ile		O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	t	22.5	4.304404	0.81136	.	.	ENSG00000174231	ENST00000304992;ENST00000540177	D	0.86627	-2.15	6.17	6.17	0.99709	Pre-mRNA-processing-splicing factor 8, U6-snRNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.94614	0.8264	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95283	0.8388	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	1543	Q6P2Q9	PRP8_HUMAN	I	1543;70	ENSP00000304350:N1543I	ENSP00000304350:N1543I	N	-	2	0	PRPF8	1510752	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.931000	0.87625	2.371000	0.80710	0.533000	0.62120	AAT		0.493	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			
PRR14	78994	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	30667486	30667486	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr16:30667486G>A	ENST00000542965.2	+	11	2068	c.1612G>A	c.(1612-1614)Gtc>Atc	p.V538I	FBRS_ENST00000356166.6_5'Flank|PRR14_ENST00000300835.4_Missense_Mutation_p.V538I			Q9BWN1	PRR14_HUMAN	proline rich 14	538								p.V538I(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			GTCCCGTGGGGTCCGGGCTGC	0.642																																																	1	Substitution - Missense(1)	kidney(1)											58.0	66.0	63.0					16																	30667486		2197	4300	6497	SO:0001583	missense	78994			AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.1612G>A	16.37:g.30667486G>A	ENSP00000441641:p.Val538Ile		Q8WTX2	Missense_Mutation	SNP	ENST00000542965.2	37	CCDS10687.1	.	.	.	.	.	.	.	.	.	.	G	8.656	0.899312	0.17686	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	T;T	0.47177	0.85;0.85	6.07	4.13	0.48395	.	0.420046	0.24247	N	0.040209	T	0.32585	0.0834	L	0.29908	0.895	0.20196	N	0.999921	B	0.21821	0.061	B	0.16289	0.015	T	0.15321	-1.0441	10	0.20519	T	0.43	-1.6421	10.3433	0.43891	0.1532:0.0:0.8468:0.0	.	538	Q9BWN1	PRR14_HUMAN	I	511;538;538	ENSP00000300835:V538I;ENSP00000441641:V538I	ENSP00000287463:V511I	V	+	1	0	PRR14	30574987	0.991000	0.36638	0.813000	0.32504	0.154000	0.21943	2.640000	0.46579	0.911000	0.36747	-0.145000	0.13849	GTC		0.642	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1		NM_024031	
KIAA0391	9692	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	35777199	35777199	+	Splice_Site	SNP	G	G	C			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr14:35777199G>C	ENST00000557565.1	+	10	3024		c.e10-1		PSMA6_ENST00000261479.4_Splice_Site|PSMA6_ENST00000540871.1_Splice_Site|PSMA6_ENST00000553809.1_Splice_Site|PSMA6_ENST00000556506.1_Splice_Site|PSMA6_ENST00000555764.1_Splice_Site	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391						tRNA processing (GO:0008033)	mitochondrion (GO:0005739)		p.?(1)		central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		CTGTTTTCCAGAATATGCTTT	0.348																																																	1	Unknown(1)	kidney(1)											60.0	57.0	58.0					14																	35777199		2203	4300	6503	SO:0001630	splice_region_variant	5687			AB002389	CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1	14q13.2	2013-06-18			ENSG00000100890	ENSG00000100890			19958	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 3"", ""proteinaceous RNase P"""	609947				9205841, 18984158	Standard	NM_001256678		Approved	MRPP3, PRORP	uc001wsy.2	O15091		ENST00000557565.1:c.1750-1G>C	14.37:g.35777199G>C			B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Splice_Site	SNP	ENST00000557565.1	37	CCDS32063.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.526600	0.64860	.	.	ENSG00000100902	ENST00000540871;ENST00000261479;ENST00000553809;ENST00000556506	.	.	.	5.33	4.44	0.53790	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4519	0.67392	0.0717:0.0:0.9283:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PSMA6	34846950	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.737000	0.98831	1.368000	0.46115	-0.150000	0.13652	.		0.348	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000411280.1		NM_014672	Intron
PTPRQ	374462	hgsc.bcm.edu	37	12	80943506	80943523	+	Splice_Site	DEL	TGAAACAGGTAACTAACG	TGAAACAGGTAACTAACG	-	rs141686707|rs190917077	byFrequency	TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	TGAAACAGGTAACTAACG	TGAAACAGGTAACTAACG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr12:80943506_80943523delTGAAACAGGTAACTAACG	ENST00000266688.5	+	30	4266_4273	c.4266_4273delTGAAACAGGTAACTAACG	c.(4264-4275)cctgaaacaggt>ccgt	p.ETG1423del				Q9UMZ3	PTPRQ_HUMAN	protein tyrosine phosphatase, receptor type, Q	1469	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				regulation of fat cell differentiation (GO:0045598)	integral component of membrane (GO:0016021)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(7)|kidney(9)|lung(2)|prostate(1)|skin(2)|stomach(2)	24						GCACACTACCTGAAACAGGTAACTAACGTGAAACAGGT	0.381																																																	0										21,2253		2,17,1118						3.6	1.0		dbSNP_134	53	261,3959		31,199,1880	no	coding-near-splice	PTPRQ	NM_001145026.1		33,216,2998	A1A1,A1R,RR		6.1848,0.9235,4.3425				282,6212				SO:0001630	splice_region_variant	374462			AF169351	CCDS73501.1	12q21.31	2013-02-11	2001-12-04		ENSG00000139304	ENSG00000139304		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9679	protein-coding gene	gene with protein product		603317	"""deafness, autosomal recessive 84"""	DFNB84		20346435	Standard	NM_001145026		Approved		uc001sze.2	Q9UMZ3	OTTHUMG00000170171	ENST00000266688.5:c.4273+1TGAAACAGGTAACTAACG>-	12.37:g.80943506_80943523delTGAAACAGGTAACTAACG				In_Frame_Del	DEL	ENST00000266688.5	37																																																																																					0.381	PTPRQ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001145026	In_Frame_Del
QPRT	23475	broad.mit.edu;ucsc.edu	37	16	29706503	29706503	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr16:29706503G>C	ENST00000395384.4	+	2	693	c.532G>C	c.(532-534)Gcc>Ccc	p.A178P	QPRT_ENST00000562473.1_Intron|QPRT_ENST00000219771.7_Intron	NM_014298.3	NP_055113.2	Q15274	NADC_HUMAN	quinolinate phosphoribosyltransferase	178				AA -> PP (in Ref. 1; BAA11242). {ECO:0000305}.	NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|protein oligomerization (GO:0051259)|quinolinate catabolic process (GO:0034213)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514)|protein homodimerization activity (GO:0042803)	p.A178P(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					Niacin(DB00627)	TGTGGTGGCCGCCGGTGGCGT	0.682																																																	1	Substitution - Missense(1)	kidney(1)											19.0	34.0	29.0					16																	29706503		2068	4115	6183	SO:0001583	missense	23475			D78177	CCDS10651.1	16p11.2	2008-07-31	2008-07-31		ENSG00000103485	ENSG00000103485	2.4.2.19		9755	protein-coding gene	gene with protein product	"""nicotinate-nucleotide pyrophosphorylase (carboxylating)"""	606248				9473669	Standard	NM_014298		Approved	QPRTase	uc002dto.3	Q15274	OTTHUMG00000097770	ENST00000395384.4:c.532G>C	16.37:g.29706503G>C	ENSP00000378782:p.Ala178Pro		Q53XW7|Q96G22|Q9BSG6	Missense_Mutation	SNP	ENST00000395384.4	37	CCDS10651.1	.	.	.	.	.	.	.	.	.	.	.	14.74	2.624447	0.46840	.	.	ENSG00000103485	ENST00000395384	T	0.34667	1.35	3.88	3.88	0.44766	Aldolase-type TIM barrel (1);Quinolinate phosphoribosyl transferase, C-terminal (2);	0.246638	0.34959	N	0.003546	T	0.43188	0.1236	M	0.90870	3.155	0.45777	D	0.99866	B	0.23058	0.079	B	0.20955	0.032	T	0.48445	-0.9035	9	.	.	.	-9.8616	7.5379	0.27721	0.117:0.0:0.883:0.0	.	178	Q15274	NADC_HUMAN	P	178	ENSP00000378782:A178P	.	A	+	1	0	QPRT	29614004	0.794000	0.28838	0.107000	0.21349	0.420000	0.31355	2.766000	0.47629	2.166000	0.68216	0.461000	0.40582	GCC		0.682	QPRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215011.2		NM_014298	
RAC3	5881	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	79990881	79990881	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr17:79990881C>T	ENST00000306897.4	+	4	422	c.284C>T	c.(283-285)gCc>gTc	p.A95V		NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)	95					actin cytoskeleton organization (GO:0030036)|cell projection assembly (GO:0030031)|GTP catabolic process (GO:0006184)|intracellular signal transduction (GO:0035556)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.A95V(1)		NS(1)|kidney(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			AATGTTCGTGCCAAGGTAGGG	0.602																																																	1	Substitution - Missense(1)	kidney(1)											64.0	71.0	69.0					17																	79990881		2203	4300	6503	SO:0001583	missense	5881			AF008591	CCDS11798.1	17q25.3	2014-01-30				ENSG00000169750		"""Endogenous ligands"""	9803	protein-coding gene	gene with protein product		602050					Standard	NM_005052		Approved		uc002kdf.3	P60763		ENST00000306897.4:c.284C>T	17.37:g.79990881C>T	ENSP00000304283:p.Ala95Val		O14658|Q5U0M8	Missense_Mutation	SNP	ENST00000306897.4	37	CCDS11798.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.205156	0.79127	.	.	ENSG00000169750	ENST00000306897	T	0.69806	-0.43	3.72	3.72	0.42706	Small GTP-binding protein domain (1);	0.129140	0.52532	D	0.000079	T	0.56337	0.1978	N	0.19112	0.55	0.80722	D	1	B	0.25105	0.118	B	0.36922	0.236	T	0.52109	-0.8619	9	.	.	.	.	15.6871	0.77421	0.0:1.0:0.0:0.0	.	95	P60763	RAC3_HUMAN	V	95	ENSP00000304283:A95V	.	A	+	2	0	RAC3	77584170	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	7.442000	0.80503	1.909000	0.55274	0.561000	0.74099	GCC		0.602	RAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442064.1			
RAET1E	135250	broad.mit.edu	37	6	150211277	150211277	+	Silent	SNP	A	A	G			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr6:150211277A>G	ENST00000357183.4	-	2	222	c.90T>C	c.(88-90)ggT>ggC	p.G30G	RAET1E-AS1_ENST00000446954.2_RNA|RAET1E_ENST00000532335.1_Silent_p.G30G|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E_ENST00000529948.1_Silent_p.G30G|RAET1E-AS1_ENST00000605899.1_RNA|RAET1E_ENST00000367363.3_Intron	NM_139165.2	NP_631904.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	30					antigen processing and presentation (GO:0019882)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)	p.G30G(1)		cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		AAAGAGAGTGACCACCTGTGA	0.507																																																	1	Substitution - coding silent(1)	kidney(1)											46.0	43.0	44.0					6																	150211277		2203	4300	6503	SO:0001819	synonymous_variant	135250			AF359243	CCDS5221.1, CCDS59042.1, CCDS59043.1, CCDS59044.1	6q24.3	2011-02-09			ENSG00000164520	ENSG00000164520			16793	protein-coding gene	gene with protein product		609243				11827464	Standard	NM_139165		Approved	LETAL, bA350J20.7, ULBP4	uc003qnl.1	Q8TD07	OTTHUMG00000015796	ENST00000357183.4:c.90T>C	6.37:g.150211277A>G			A6YF59|Q5VYB7|Q5VYB8|Q8TEZ2|Q96L41	Silent	SNP	ENST00000357183.4	37	CCDS5221.1																																																																																				0.507	RAET1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042659.1		NM_139165	
REV1	51455	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	100055089	100055089	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr2:100055089C>G	ENST00000258428.3	-	6	1415	c.1187G>C	c.(1186-1188)aGg>aCg	p.R396T	REV1_ENST00000393445.3_Missense_Mutation_p.R396T|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	396					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)	p.R396T(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAGTGCAGACCTGCCTGTTTT	0.343								Direct reversal of damage																																									1	Substitution - Missense(1)	kidney(1)											66.0	73.0	71.0					2																	100055089		2201	4300	6501	SO:0001583	missense	51455			AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.1187G>C	2.37:g.100055089C>G	ENSP00000258428:p.Arg396Thr		O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	37	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.229988	0.58777	.	.	ENSG00000135945	ENST00000393445;ENST00000258428;ENST00000450415	T;T;T	0.46451	1.52;1.52;0.87	5.99	5.99	0.97316	.	0.154015	0.64402	D	0.000020	T	0.52386	0.1731	M	0.70275	2.135	0.43259	D	0.995196	P;P;P	0.49253	0.921;0.651;0.646	P;B;B	0.50590	0.645;0.15;0.196	T	0.49283	-0.8956	10	0.38643	T	0.18	.	12.8984	0.58111	0.0:0.9261:0.0:0.0739	.	375;396;396	Q9UBZ9-3;Q9UBZ9;Q9UBZ9-2	.;REV1_HUMAN;.	T	396;396;34	ENSP00000377091:R396T;ENSP00000258428:R396T;ENSP00000414875:R34T	ENSP00000258428:R396T	R	-	2	0	REV1	99421521	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.255000	0.51484	2.840000	0.97914	0.655000	0.94253	AGG		0.343	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2		NM_016316	
SCTR	6344	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	120204412	120204412	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr2:120204412A>G	ENST00000019103.5	-	11	1330	c.1063T>C	c.(1063-1065)Tac>Cac	p.Y355H		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	355					digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)	p.Y355H(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	AAGACGATGTAGTGGATGCCA	0.582																																																	1	Substitution - Missense(1)	kidney(1)											97.0	96.0	96.0					2																	120204412		2203	4300	6503	SO:0001583	missense	6344				CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"""GPCR / Class B : Glucagon receptors"""	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407	ENST00000019103.5:c.1063T>C	2.37:g.120204412A>G	ENSP00000019103:p.Tyr355His		Q12961|Q13213|Q53T00	Missense_Mutation	SNP	ENST00000019103.5	37	CCDS2127.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.657330	0.88154	.	.	ENSG00000080293	ENST00000019103	T	0.51325	0.71	5.34	5.34	0.76211	GPCR, family 2-like (1);	0.000000	0.53938	D	0.000048	T	0.70902	0.3277	M	0.83603	2.65	0.54753	D	0.999988	D	0.89917	1.0	D	0.97110	1.0	T	0.76024	-0.3110	10	0.87932	D	0	.	14.6547	0.68825	1.0:0.0:0.0:0.0	.	355	P47872	SCTR_HUMAN	H	355	ENSP00000019103:Y355H	ENSP00000019103:Y355H	Y	-	1	0	SCTR	119920882	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.071000	0.76770	2.240000	0.73641	0.533000	0.62120	TAC		0.582	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2			
RNF25	64320	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	219532706	219532706	+	Splice_Site	SNP	T	T	C			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr2:219532706T>C	ENST00000295704.2	-	5	728		c.e5-2			NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25						positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTAAGATCCTGGAGGAAGAG	0.517																																																	1	Unknown(1)	kidney(1)											120.0	125.0	124.0					2																	219532706		2203	4300	6503	SO:0001630	splice_region_variant	64320				CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481		"""RING-type (C3HC4) zinc fingers"""	14662	protein-coding gene	gene with protein product						12748188	Standard	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077	ENST00000295704.2:c.288-2A>G	2.37:g.219532706T>C			A8K0D6|Q53HQ5|Q9H874	Splice_Site	SNP	ENST00000295704.2	37	CCDS2420.1	.	.	.	.	.	.	.	.	.	.	T	16.26	3.073977	0.55646	.	.	ENSG00000163481	ENST00000295704	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0405	0.71788	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RNF25	219240950	0.998000	0.40836	0.999000	0.59377	0.680000	0.39746	2.998000	0.49465	2.225000	0.72522	0.379000	0.24179	.		0.517	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256721.1		NM_022453	Intron
SEMA6D	80031	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	48063502	48063502	+	Silent	SNP	G	G	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr15:48063502G>A	ENST00000316364.5	+	19	3181	c.2742G>A	c.(2740-2742)tcG>tcA	p.S914S	SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000358066.4_Silent_p.S852S|SEMA6D_ENST00000558014.1_Silent_p.S852S|SEMA6D_ENST00000389432.2_Silent_p.S871S|SEMA6D_ENST00000537942.1_Silent_p.S852S|SEMA6D_ENST00000536845.2_Silent_p.S914S|SEMA6D_ENST00000389433.2_Silent_p.S895S|SEMA6D_ENST00000354744.4_Silent_p.S858S|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389428.3_Silent_p.S839S	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	914					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.S852S(2)|p.S914S(2)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CCATGGGATCGATGTCTGAGG	0.517																																																	4	Substitution - coding silent(4)	lung(2)|kidney(2)											122.0	108.0	113.0					15																	48063502		2198	4297	6495	SO:0001819	synonymous_variant	80031			AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.2742G>A	15.37:g.48063502G>A			A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Silent	SNP	ENST00000316364.5	37	CCDS32225.1																																																																																				0.517	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1		NM_024966	
SEPHS2	22928	broad.mit.edu;ucsc.edu	37	16	30456187	30456187	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr16:30456187A>G	ENST00000478753.2	-	1	1315	c.862T>C	c.(862-864)Tat>Cat	p.Y288H	SEPHS2_ENST00000542752.1_Missense_Mutation_p.Y231H|SEPHS2_ENST00000500504.2_Missense_Mutation_p.Y288H			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	288					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)	p.Y288H(1)		breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						GCTTCCTGATAGGCCAGCTCC	0.483																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)												1	Substitution - Missense(1)	kidney(1)											105.0	103.0	104.0					16																	30456187		1992	4169	6161	SO:0001583	missense	22928			BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.862T>C	16.37:g.30456187A>G	ENSP00000418669:p.Tyr288His		Q9BUQ2	Missense_Mutation	SNP	ENST00000478753.2	37		.	.	.	.	.	.	.	.	.	.	A	16.73	3.204409	0.58234	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.16897	2.31;2.31;2.31	5.74	4.65	0.58169	AIR synthase-related protein, C-terminal (2);	0.126712	0.56097	D	0.000038	T	0.31167	0.0788	M	0.69248	2.105	0.80722	D	1	P;P	0.37636	0.572;0.603	P;P	0.50970	0.596;0.655	T	0.02275	-1.1184	10	0.42905	T	0.14	-8.5777	10.0596	0.42266	0.9204:0.0:0.0796:0.0	.	288;231	Q99611;F5H8F9	SPS2_HUMAN;.	H	288;231;239;288	ENSP00000418669:Y288H;ENSP00000443601:Y231H;ENSP00000426234:Y288H	ENSP00000390233:Y239H	Y	-	1	0	SEPHS2	30363688	1.000000	0.71417	0.992000	0.48379	0.979000	0.70002	9.249000	0.95470	1.111000	0.41721	0.533000	0.62120	TAT		0.483	SEPHS2-001	KNOWN	basic|seleno	protein_coding	protein_coding	OTTHUMT00000109640.11		NM_012248	
SERPINB8	5271	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	61654390	61654390	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr18:61654390G>A	ENST00000397985.2	+	7	1259	c.1003G>A	c.(1003-1005)Gtc>Atc	p.V335I	SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000353706.2_Missense_Mutation_p.V335I|SERPINB8_ENST00000542677.1_Missense_Mutation_p.V153I	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	335					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.V335I(1)		breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				CACTGCTGTGGTCAGGAATTC	0.517																																																	1	Substitution - Missense(1)	kidney(1)											69.0	67.0	67.0					18																	61654390		2203	4300	6503	SO:0001583	missense	5271			L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"""Serine (or cysteine) peptidase inhibitors"""	8952	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase 2"""	601697	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"""	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.1003G>A	18.37:g.61654390G>A	ENSP00000381072:p.Val335Ile		B4DTW2|Q7Z2V6|Q8N178	Missense_Mutation	SNP	ENST00000397985.2	37	CCDS11991.1	.	.	.	.	.	.	.	.	.	.	G	1.854	-0.464309	0.04476	.	.	ENSG00000166401	ENST00000397985;ENST00000353706;ENST00000542677	D;D;D	0.84516	-1.86;-1.86;-1.86	5.65	0.64	0.17752	Serpin domain (3);	0.645425	0.16298	N	0.220586	T	0.63616	0.2526	N	0.08118	0	0.09310	N	0.999994	B	0.06786	0.001	B	0.15484	0.013	T	0.48592	-0.9022	10	0.11485	T	0.65	.	5.324	0.15896	0.3962:0.0:0.4641:0.1397	.	335	P50452	SPB8_HUMAN	I	335;335;153	ENSP00000381072:V335I;ENSP00000331368:V335I;ENSP00000438328:V153I	ENSP00000331368:V335I	V	+	1	0	SERPINB8	59805370	0.000000	0.05858	0.996000	0.52242	0.646000	0.38490	-0.152000	0.10159	0.259000	0.21709	0.655000	0.94253	GTC		0.517	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134014.1		NM_001031848	
SETD2	29072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	47127749	47127749	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr3:47127749delA	ENST00000409792.3	-	11	5375	c.5333delT	c.(5332-5334)ttgfs	p.L1779fs	snoU13_ENST00000516129.1_RNA|SETD2_ENST00000492397.1_5'Flank	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1779					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GATCCACAACAAAGACAGCCC	0.498			"""N, F, S, Mis"""		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													138.0	119.0	126.0					3																	47127749		2203	4300	6503	SO:0001589	frameshift_variant	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.5333delT	3.37:g.47127749delA	ENSP00000386759:p.Leu1779fs		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Del	DEL	ENST00000409792.3	37	CCDS2749.2																																																																																				0.498	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2		NM_014159	
SLC27A1	376497	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	17611618	17611618	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr19:17611618G>T	ENST00000252595.7	+	10	1666	c.1569G>T	c.(1567-1569)gaG>gaT	p.E523D	SLC27A1_ENST00000442725.1_Missense_Mutation_p.E523D|SLC27A1_ENST00000598848.1_Intron|SLC27A1_ENST00000598424.1_Missense_Mutation_p.E344D|CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	523					adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.E523D(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CCACCACCGAGGTGGAGGGCG	0.657																																																	2	Substitution - Missense(2)	kidney(2)											58.0	55.0	56.0					19																	17611618		2203	4300	6503	SO:0001583	missense	376497			BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.1569G>T	19.37:g.17611618G>T	ENSP00000252595:p.Glu523Asp		A6NIH2|B7Z662	Missense_Mutation	SNP	ENST00000252595.7	37	CCDS32953.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414432	0.62511	.	.	ENSG00000130304	ENST00000442725;ENST00000252595	T;T	0.72835	-0.69;-0.69	4.54	2.4	0.29515	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	D	0.84665	0.5522	M	0.93854	3.465	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.83643	0.0151	10	0.87932	D	0	-34.2203	5.7376	0.18075	0.3205:0.0:0.6795:0.0	.	344;523	B7Z662;Q6PCB7	.;S27A1_HUMAN	D	523	ENSP00000413424:E523D;ENSP00000252595:E523D	ENSP00000252595:E523D	E	+	3	2	SLC27A1	17472618	1.000000	0.71417	0.997000	0.53966	0.665000	0.39181	1.695000	0.37763	0.916000	0.36871	0.561000	0.74099	GAG		0.657	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1		NM_198580	
SLC2A14	144195	broad.mit.edu;hgsc.bcm.edu	37	12	7967042	7967042	+	Missense_Mutation	SNP	C	C	T	rs140568143	byFrequency	TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr12:7967042C>T	ENST00000543909.1	-	16	2192	c.1433G>A	c.(1432-1434)cGt>cAt	p.R478H	SLC2A14_ENST00000431042.2_Missense_Mutation_p.R455H|SLC2A14_ENST00000340749.5_Missense_Mutation_p.R455H|SLC2A14_ENST00000396589.2_Missense_Mutation_p.R478H|SLC2A14_ENST00000535295.1_Missense_Mutation_p.R369H|SLC2A14_ENST00000542546.1_Missense_Mutation_p.R369H|SLC2A14_ENST00000542505.1_Missense_Mutation_p.R119H|SLC2A14_ENST00000539924.1_Missense_Mutation_p.R493H			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	478					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)	p.R478H(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		AGTCCTGCCACGGGTCTCAGG	0.498																																																	1	Substitution - Missense(1)	kidney(1)						C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	81.0	72.0	75.0		1433	2.9	1.0	12	dbSNP_134	75	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC2A14	NM_153449.2	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	478/521	7967042	2,13004	2203	4300	6503	SO:0001583	missense	144195			AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"""Solute carriers"""	18301	protein-coding gene	gene with protein product		611039	"""solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"""	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.1433G>A	12.37:g.7967042C>T	ENSP00000440480:p.Arg478His		B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.530447	0.45073	2.27E-4	1.16E-4	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000542505;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924	T;T;T;T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83	3.81	2.89	0.33648	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.264168	0.34484	N	0.003935	T	0.73713	0.3622	M	0.83384	2.64	0.31510	N	0.663752	B;B;B;B	0.32717	0.371;0.241;0.381;0.108	B;B;B;B	0.33690	0.117;0.082;0.073;0.168	T	0.76399	-0.2973	10	0.87932	D	0	.	8.5593	0.33501	0.0:0.8765:0.0:0.1235	.	493;369;455;478	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	H	455;478;455;119;478;369;369;493	ENSP00000340450:R455H;ENSP00000440480:R478H;ENSP00000407287:R455H;ENSP00000438484:R119H;ENSP00000379834:R478H;ENSP00000440492:R369H;ENSP00000443903:R369H;ENSP00000445929:R493H	ENSP00000340450:R455H	R	-	2	0	SLC2A14	7858309	0.140000	0.22579	0.997000	0.53966	0.991000	0.79684	0.193000	0.17116	0.675000	0.31264	0.460000	0.39030	CGT		0.498	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2		NM_153449	
SLC35B2	347734	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	44224429	44224429	+	Silent	SNP	C	C	T			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr6:44224429C>T	ENST00000393812.3	-	2	341	c.198G>A	c.(196-198)ctG>ctA	p.L66L	SLC35B2_ENST00000393810.1_Silent_p.L66L|MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000495706.1_Intron|SLC35B2_ENST00000538577.1_Nonsense_Mutation_p.W25*|SLC35B2_ENST00000537814.1_Intron	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	66					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)	p.L66L(1)		breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CACCGGTCTCCAGGTAGTTCT	0.547																																																	1	Substitution - coding silent(1)	kidney(1)											123.0	132.0	129.0					6																	44224429		2203	4300	6503	SO:0001819	synonymous_variant	347734			AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"""Solute carriers"""	16872	protein-coding gene	gene with protein product		610788	"""solute carrier family 35, member B2"""				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.198G>A	6.37:g.44224429C>T			B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Silent	SNP	ENST00000393812.3	37	CCDS34462.1	.	.	.	.	.	.	.	.	.	.	c	37	6.507053	0.97620	.	.	ENSG00000157593	ENST00000538577	.	.	.	4.23	2.27	0.28462	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.8467	4.3706	0.11246	0.1687:0.5577:0.0:0.2735	.	.	.	.	X	25	.	ENSP00000443845:W25X	W	-	2	0	SLC35B2	44332407	0.462000	0.25791	1.000000	0.80357	0.962000	0.63368	-0.255000	0.08769	0.990000	0.38787	0.561000	0.74099	TGG		0.547	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040724.2			
SLC44A1	23446	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	108147762	108147762	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr9:108147762T>A	ENST00000374720.3	+	15	2176	c.1929T>A	c.(1927-1929)gaT>gaA	p.D643E	SLC44A1_ENST00000343170.7_Missense_Mutation_p.D435E|SLC44A1_ENST00000374723.1_Missense_Mutation_p.D643E|SLC44A1_ENST00000374724.1_Missense_Mutation_p.D643E	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	643					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)	p.D643E(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	GCGTCGCTGATTCCAGAGAGC	0.468																																																	1	Substitution - Missense(1)	kidney(1)											54.0	51.0	52.0					9																	108147762		2198	4295	6493	SO:0001583	missense	23446			AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"""CD molecules"", ""Solute carriers"""	18798	protein-coding gene	gene with protein product		606105	"""CDW92 antigen"""	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.1929T>A	9.37:g.108147762T>A	ENSP00000363852:p.Asp643Glu		A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Missense_Mutation	SNP	ENST00000374720.3	37	CCDS6763.1	.	.	.	.	.	.	.	.	.	.	T	12.17	1.859034	0.32884	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724;ENST00000343170	T;T;T;T	0.16196	3.25;3.24;3.21;2.36	5.71	1.88	0.25563	.	0.407952	0.30771	N	0.008917	T	0.05181	0.0138	N	0.08118	0	0.26484	N	0.97506	B;B;B	0.11235	0.002;0.004;0.0	B;B;B	0.12837	0.008;0.005;0.001	T	0.38200	-0.9672	10	0.02654	T	1	-17.0125	1.7916	0.03053	0.1055:0.2153:0.2033:0.4759	.	643;643;643	Q8WWI5-3;Q8WWI5-2;Q8WWI5	.;.;CTL1_HUMAN	E	643;643;643;435	ENSP00000363855:D643E;ENSP00000363852:D643E;ENSP00000363856:D643E;ENSP00000341856:D435E	ENSP00000341856:D435E	D	+	3	2	SLC44A1	107187583	0.996000	0.38824	0.999000	0.59377	0.980000	0.70556	0.162000	0.16501	0.065000	0.16485	0.533000	0.62120	GAT		0.468	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1		NM_080546	
SLC5A10	125206	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	18863863	18863863	+	Silent	SNP	C	C	T			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr17:18863863C>T	ENST00000395645.3	+	5	369	c.351C>T	c.(349-351)atC>atT	p.I117I	SLC5A10_ENST00000395643.2_Silent_p.I117I|SLC5A10_ENST00000417251.2_Silent_p.I117I|SLC5A10_ENST00000395647.2_Silent_p.I117I|SLC5A10_ENST00000395642.1_Silent_p.I61I|SLC5A10_ENST00000317977.6_Silent_p.I61I	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	117					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.I117I(2)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						CTTCCCAGATCGTCACCTTAC	0.582											OREG0024231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)											192.0	163.0	173.0					17																	18863863		2203	4300	6503	SO:0001819	synonymous_variant	125206				CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.351C>T	17.37:g.18863863C>T		728	A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Silent	SNP	ENST00000395645.3	37	CCDS42275.1																																																																																				0.582	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2		NM_152351	
TAF15	8148	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	34147197	34147197	+	Silent	SNP	T	T	C			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr17:34147197T>C	ENST00000588240.1	+	4	244	c.129T>C	c.(127-129)gaT>gaC	p.D43D	TAF15_ENST00000311979.3_Silent_p.D43D|TAF15_ENST00000592237.1_5'UTR|AC015849.19_ENST00000588415.1_RNA|AC015849.13_ENST00000589356.1_RNA	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.D43D(1)	TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AAACGACTGATTCCTCTTATG	0.348			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""																																			Dom	yes		17	17q11.1-q11.2	8148	"""TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"""		"""L, M"""	1	Substitution - coding silent(1)	kidney(1)											139.0	140.0	140.0					17																	34147197		2203	4300	6503	SO:0001819	synonymous_variant	8148			U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"""RNA binding motif (RRM) containing"""	11547	protein-coding gene	gene with protein product		601574	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"""	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.129T>C	17.37:g.34147197T>C			D3DPM5|Q15775|Q5T077	Silent	SNP	ENST00000588240.1	37	CCDS32623.1																																																																																				0.348	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1		NM_139215	
TBC1D1	23216	broad.mit.edu;ucsc.edu	37	4	38023333	38023333	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr4:38023333A>T	ENST00000261439.4	+	6	1559	c.1204A>T	c.(1204-1206)Ata>Tta	p.I402L	TBC1D1_ENST00000508802.1_Missense_Mutation_p.I402L	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	402	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)	p.I402L(1)		NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CTGTGAGAGGATAGAGGGTGA	0.557																																																	1	Substitution - Missense(1)	kidney(1)											32.0	30.0	31.0					4																	38023333		2203	4300	6503	SO:0001583	missense	23216			AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.1204A>T	4.37:g.38023333A>T	ENSP00000261439:p.Ile402Leu		B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	ENST00000261439.4	37	CCDS33972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	32|32	5.149612|5.149612	0.94645|0.94645	.|.	.|.	ENSG00000065882|ENSG00000065882	ENST00000510573|ENST00000508802;ENST00000261439;ENST00000446803	.|T;T;T	.|0.28895	.|2.84;3.25;1.59	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	.|0.000000	.|0.64402	.|D	.|0.000004	T|T	0.51363|0.51363	0.1670|0.1670	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.71674	.|0.998;0.998;0.985;0.998	.|D;D;D;D	.|0.77557	.|0.966;0.99;0.952;0.966	T|T	0.48068|0.48068	-0.9067|-0.9067	5|10	.|0.48119	.|T	.|0.1	-23.0355|-23.0355	16.0742|16.0742	0.80958|0.80958	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|402;402;134;402	.|B9A6J6;E9PGH8;Q6PJJ8;Q86TI0	.|.;.;.;TBCD1_HUMAN	V|L	49|402;402;273	.|ENSP00000423651:I402L;ENSP00000261439:I402L;ENSP00000396877:I273L	.|ENSP00000261439:I402L	D|I	+|+	2|1	0|0	TBC1D1|TBC1D1	37699728|37699728	1.000000|1.000000	0.71417|0.71417	0.914000|0.914000	0.36105|0.36105	0.982000|0.982000	0.71751|0.71751	8.932000|8.932000	0.92897|0.92897	2.204000|2.204000	0.70986|0.70986	0.482000|0.482000	0.46254|0.46254	GAT|ATA		0.557	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2		NM_015173	
TECRL	253017	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	65147225	65147225	+	Silent	SNP	A	A	G			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr4:65147225A>G	ENST00000381210.3	-	10	995	c.885T>C	c.(883-885)ttT>ttC	p.F295F	TECRL_ENST00000507440.1_Silent_p.F295F	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	295					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)	p.F295F(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						AAACCAGGAAAAACATCCATG	0.338																																																	1	Substitution - coding silent(1)	kidney(1)											104.0	101.0	102.0					4																	65147225		2203	4300	6503	SO:0001819	synonymous_variant	253017			AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.885T>C	4.37:g.65147225A>G				Silent	SNP	ENST00000381210.3	37	CCDS33990.1																																																																																				0.338	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4		NM_001010874	
TG	7038	broad.mit.edu;ucsc.edu	37	8	134030154	134030154	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr8:134030154C>T	ENST00000220616.4	+	38	6734	c.6694C>T	c.(6694-6696)Cca>Tca	p.P2232S	TG_ENST00000542445.1_Missense_Mutation_p.P602S|TG_ENST00000377869.1_Missense_Mutation_p.P2175S|TG_ENST00000519543.1_Missense_Mutation_p.P365S|TG_ENST00000522523.1_3'UTR	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2232					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.P2232S(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCTTGGAGTTCCATATGCTGC	0.617																																																	1	Substitution - Missense(1)	kidney(1)											63.0	60.0	61.0					8																	134030154		2203	4300	6503	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.6694C>T	8.37:g.134030154C>T	ENSP00000220616:p.Pro2232Ser		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.9|22.9	4.355943|4.355943	0.82243|0.82243	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543|ENST00000519178	T;T;T;T|.	0.80909|.	-1.43;-1.43;-1.43;-1.43|.	5.4|5.4	5.4|5.4	0.78164|0.78164	Carboxylesterase, type B (1);|.	0.135872|.	0.49305|.	D|.	0.000145|.	D|D	0.88976|0.88976	0.6584|0.6584	H|H	0.98754|0.98754	4.32|4.32	0.44085|0.44085	D|D	0.996846|0.996846	D;D;D|.	0.89917|.	0.999;0.998;1.0|.	D;D;D|.	0.97110|.	0.974;0.97;1.0|.	D|D	0.92527|0.92527	0.6030|0.6030	10|5	0.87932|.	D|.	0|.	.|.	14.5343|14.5343	0.67950|0.67950	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	365;602;2232|.	E7EVM0;F5GWW5;P01266|.	.;.;THYG_HUMAN|.	S|F	2175;1038;2232;602;365|687	ENSP00000367100:P2175S;ENSP00000220616:P2232S;ENSP00000441693:P602S;ENSP00000430430:P365S|.	ENSP00000220616:P2232S|.	P|S	+|+	1|2	0|0	TG|TG	134099336|134099336	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.952000|0.952000	0.60782|0.60782	5.606000|5.606000	0.67641|0.67641	2.813000|2.813000	0.96785|0.96785	0.561000|0.561000	0.74099|0.74099	CCA|TCC		0.617	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1		NM_003235	
TJP2	9414	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	71855060	71855060	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr9:71855060A>G	ENST00000377245.4	+	17	2771	c.2563A>G	c.(2563-2565)Aca>Gca	p.T855A	TJP2_ENST00000265384.7_Missense_Mutation_p.T855A|TJP2_ENST00000348208.4_Missense_Mutation_p.T855A|TJP2_ENST00000535702.1_Missense_Mutation_p.T859A|TJP2_ENST00000453658.2_Missense_Mutation_p.T832A|TJP2_ENST00000539225.1_Missense_Mutation_p.T886A	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	855	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)	p.T855A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						ACACCTTTTTACAGGTAAGTG	0.313																																																	1	Substitution - Missense(1)	kidney(1)											41.0	40.0	40.0					9																	71855060		2203	4300	6503	SO:0001583	missense	9414			L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.2563A>G	9.37:g.71855060A>G	ENSP00000366453:p.Thr855Ala		A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.657321	0.88154	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28;2.28	5.93	5.93	0.95920	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	T	0.51176	0.1659	M	0.89715	3.055	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.999;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.994;0.988;0.996;0.999;0.998	T	0.61178	-0.7115	10	0.87932	D	0	.	16.3943	0.83563	1.0:0.0:0.0:0.0	.	886;859;855;855;855	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	A	832;855;855;855;859;886	ENSP00000392178:T832A;ENSP00000366453:T855A;ENSP00000345893:T855A;ENSP00000265384:T855A;ENSP00000442090:T859A;ENSP00000438262:T886A	ENSP00000265384:T855A	T	+	1	0	TJP2	71044880	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	9.339000	0.96797	2.281000	0.76405	0.533000	0.62120	ACA		0.313	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2		NM_201629	
DCSTAMP	81501	broad.mit.edu;ucsc.edu	37	8	105361373	105361373	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr8:105361373A>G	ENST00000297581.2	+	2	642	c.593A>G	c.(592-594)tAc>tGc	p.Y198C	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.Y198C|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	198					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)		p.Y198C(1)									AGCGTCTTGTACCAGATGGCA	0.547																																																	1	Substitution - Missense(1)	kidney(1)											106.0	97.0	100.0					8																	105361373		2203	4300	6503	SO:0001583	missense	0			AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.593A>G	8.37:g.105361373A>G	ENSP00000297581:p.Tyr198Cys		B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	37	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	A	0.575	-0.839688	0.02692	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	T	0.30448	1.53	5.53	3.09	0.35607	.	1.027660	0.07662	N	0.933828	T	0.27027	0.0662	L	0.44542	1.39	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.29852	-0.9998	9	.	.	.	-0.2571	8.8698	0.35309	0.8512:0.0:0.1488:0.0	.	198	Q9H295	TM7S4_HUMAN	C	198	ENSP00000297581:Y198C	.	Y	+	2	0	TM7SF4	105430549	0.003000	0.15002	0.002000	0.10522	0.008000	0.06430	1.498000	0.35660	0.384000	0.24942	-0.379000	0.06801	TAC		0.547	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1		NM_030788	
TMUB2	79089	broad.mit.edu	37	17	42266658	42266658	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr17:42266658C>A	ENST00000587989.1	+	3	457	c.304C>A	c.(304-306)Cca>Aca	p.P102T	ASB16-AS1_ENST00000588785.1_RNA|TMUB2_ENST00000357984.3_Missense_Mutation_p.P82T|TMUB2_ENST00000587172.1_Missense_Mutation_p.P82T|TMUB2_ENST00000589785.1_Missense_Mutation_p.P82T|TMUB2_ENST00000538716.2_Missense_Mutation_p.P102T|TMUB2_ENST00000589856.1_Missense_Mutation_p.P82T|ASB16-AS1_ENST00000591166.1_RNA|TMUB2_ENST00000592825.1_Missense_Mutation_p.P82T|ASB16-AS1_ENST00000592897.1_RNA|TMUB2_ENST00000319511.6_Missense_Mutation_p.P82T|ASB16-AS1_ENST00000585457.1_RNA|TMUB2_ENST00000589184.1_Intron|TMUB2_ENST00000590235.1_Missense_Mutation_p.P82T|TMUB2_ENST00000446571.3_Missense_Mutation_p.P82T			Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	102						integral component of membrane (GO:0016021)		p.P82T(1)|p.P102T(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		ACTCCCCCATCCATCAGAGGG	0.622																																																	2	Substitution - Missense(2)	kidney(2)											71.0	73.0	72.0					17																	42266658		2203	4300	6503	SO:0001583	missense	79089				CCDS11479.1, CCDS54134.1	17q21	2006-06-27				ENSG00000168591			28459	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_177441		Approved	MGC3123	uc002ifo.3	Q71RG4		ENST00000587989.1:c.304C>A	17.37:g.42266658C>A	ENSP00000466971:p.Pro102Thr		B3KU81|Q8NDI2|Q9BPZ5|Q9HAG3	Missense_Mutation	SNP	ENST00000587989.1	37	CCDS54134.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.279854	0.40294	.	.	ENSG00000168591	ENST00000446571;ENST00000357984;ENST00000538716;ENST00000319511	T;T;T;T	0.43294	0.95;0.98;0.96;0.98	5.2	3.16	0.36331	.	0.330157	0.31461	N	0.007610	T	0.42899	0.1223	L	0.47716	1.5	0.31149	N	0.705671	B;D;B;P	0.55385	0.281;0.971;0.16;0.651	B;P;B;B	0.52957	0.027;0.714;0.056;0.122	T	0.44283	-0.9338	10	0.31617	T	0.26	.	8.3835	0.32486	0.0:0.6172:0.2991:0.0836	.	82;82;82;102	E7ESS3;Q71RG4-3;Q71RG4-4;Q71RG4	.;.;.;TMUB2_HUMAN	T	82;82;102;82	ENSP00000413127:P82T;ENSP00000350672:P82T;ENSP00000444565:P102T;ENSP00000313214:P82T	ENSP00000313214:P82T	P	+	1	0	TMUB2	39622184	0.000000	0.05858	1.000000	0.80357	0.994000	0.84299	0.101000	0.15251	1.126000	0.42016	0.555000	0.69702	CCA		0.622	TMUB2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457711.1		NM_177441	
TREML1	340205	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	41117371	41117371	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr6:41117371G>T	ENST00000426005.2	-	6	950	c.907C>A	c.(907-909)Cca>Aca	p.P303T	TREML1_ENST00000373127.4_3'UTR|TREML1_ENST00000437044.2_Missense_Mutation_p.P192T	NM_178174.2	NP_835468.1	Q86YW5	TRML1_HUMAN	triggering receptor expressed on myeloid cells-like 1	303					calcium-mediated signaling (GO:0019722)|innate immune response (GO:0045087)|platelet activation (GO:0030168)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)		p.P303T(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TTGTTAGGTGGATTCTGGGCT	0.542																																																	1	Substitution - Missense(1)	kidney(1)											179.0	162.0	168.0					6																	41117371		2203	4300	6503	SO:0001583	missense	340205			AF534822	CCDS4851.1, CCDS64420.1, CCDS64421.1	6p21.1	2013-01-11			ENSG00000161911	ENSG00000161911		"""Immunoglobulin superfamily / V-set domain containing"""	20434	protein-coding gene	gene with protein product	"""TREM-like transcript 1"""	609714				12393607, 12645956	Standard	NM_178174		Approved	TLT1, dJ238O23.3	uc011duc.3	Q86YW5	OTTHUMG00000016231	ENST00000426005.2:c.907C>A	6.37:g.41117371G>T	ENSP00000402855:p.Pro303Thr		Q496B3|Q8IWY1|Q8IWY2	Missense_Mutation	SNP	ENST00000426005.2	37	CCDS4851.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.250628	0.39797	.	.	ENSG00000161911	ENST00000373127;ENST00000437044	T	0.48522	0.81	5.17	4.29	0.51040	.	0.801721	0.11043	N	0.605885	T	0.23171	0.0560	L	0.46157	1.445	0.09310	N	1	B;B	0.22909	0.077;0.025	B;B	0.19391	0.025;0.011	T	0.20505	-1.0273	10	0.40728	T	0.16	.	10.8135	0.46562	0.0:0.0:0.8112:0.1888	.	192;303	Q86YW5-3;Q86YW5	.;TRML1_HUMAN	T	303;192	ENSP00000400405:P192T	ENSP00000362219:P303T	P	-	1	0	TREML1	41225349	0.001000	0.12720	0.122000	0.21767	0.274000	0.26718	0.773000	0.26661	1.376000	0.46267	0.655000	0.94253	CCA		0.542	TREML1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043538.2		NM_178174	
TTN	7273	hgsc.bcm.edu;ucsc.edu	37	2	179516214	179516219	+	In_Frame_Del	DEL	CACCAG	CACCAG	-			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	CACCAG	CACCAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr2:179516214_179516219delCACCAG	ENST00000591111.1	-	162	35211_35216	c.34987_34992delCTGGTG	c.(34987-34992)ctggtgdel	p.LV11663del	TTN_ENST00000342992.6_In_Frame_Del_p.LV10736del|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_In_Frame_Del_p.LV13170del|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11663	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTGGGAACCACCAGAGGCACCTTC	0.466																																																	0																																										SO:0001651	inframe_deletion	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34987_34992delCTGGTG	2.37:g.179516214_179516219delCACCAG	ENSP00000465570:p.Leu11663_Val11664del		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	In_Frame_Del	DEL	ENST00000591111.1	37																																																																																					0.466	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
UGT1A7	54577	broad.mit.edu;hgsc.bcm.edu	37	2	234591121	234591121	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr2:234591121G>A	ENST00000373426.3	+	1	538	c.538G>A	c.(538-540)Ggt>Agt	p.G180S	UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000373450.4_Intron	NM_019077.2	NP_061950.2	Q9HAW7	UD17_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A7	180					cellular glucuronidation (GO:0052695)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|excretion (GO:0007588)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	drug binding (GO:0008144)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|retinoic acid binding (GO:0001972)	p.G180S(1)|p.G180C(1)		NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)	TCTTGAAGAAGGTGCACAGTG	0.483																																																	2	Substitution - Missense(2)	lung(1)|kidney(1)											162.0	168.0	166.0					2																	234591121		2203	4300	6503	SO:0001583	missense	54577			U39570	CCDS2506.1	2q37	2010-03-05	2005-07-20		ENSG00000244122	ENSG00000244122		"""UDP glucuronosyltransferases"""	12539	other	complex locus constituent		606432	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 11434514	Standard	NM_019077		Approved	UGT1G		Q9HAW7	OTTHUMG00000059004	ENST00000373426.3:c.538G>A	2.37:g.234591121G>A	ENSP00000362525:p.Gly180Ser		B8K293|O00473	Missense_Mutation	SNP	ENST00000373426.3	37	CCDS2506.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.909648	0.33721	.	.	ENSG00000244122	ENST00000373426	T	0.05925	3.37	4.34	1.45	0.22620	.	.	.	.	.	T	0.03739	0.0106	N	0.16708	0.43	0.09310	N	1	B;B	0.20368	0.044;0.044	B;B	0.27887	0.084;0.084	T	0.46359	-0.9197	9	0.06099	T	0.92	.	8.303	0.32025	0.3222:0.0:0.6778:0.0	.	180;180	Q5DSZ7;Q9HAW7	.;UD17_HUMAN	S	180	ENSP00000362525:G180S	ENSP00000362525:G180S	G	+	1	0	UGT1A7	234255860	0.000000	0.05858	0.122000	0.21767	0.861000	0.49209	0.723000	0.25939	0.469000	0.27268	0.491000	0.48974	GGT		0.483	UGT1A7-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130614.1		NM_019077	
LOC101929232	101929232	broad.mit.edu	37	15	29084045	29084045	+	IGR	SNP	T	T	G	rs75345913		TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr15:29084045T>G								RP11-578F21.12 (30601 upstream) : GOLGA6L7P (6061 downstream)																							TTATTCGTATTTTTTGGTAAC	0.313																																																	0																																										SO:0001628	intergenic_variant	0																															15.37:g.29084045T>G				RNA	SNP		37																																																																																				0	0.313									
MIR4477B	100616194	broad.mit.edu	37	9	68413565	68413565	+	RNA	SNP	G	G	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr9:68413565G>A	ENST00000581659.1	+	0	0					NR_039688.1|NR_039689.1				microRNA 4477b																		AGCTCCCCCAGTGGCGCCGGA	0.597																																																	0																																												0					9	2011-09-12						"""ncRNAs / Micro RNAs"""	41898	non-coding RNA	RNA, micro							Standard	NR_039689		Approved	hsa-mir-4477b					9.37:g.68413565G>A				RNA	SNP	ENST00000581659.1	37																																																																																					0.597	MIR4477B-201	KNOWN	basic	miRNA	miRNA			NR_039689	
MIR4477B	100616194	broad.mit.edu	37	9	68413569	68413569	+	RNA	SNP	C	C	T			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr9:68413569C>T	ENST00000581659.1	+	0	0					NR_039688.1|NR_039689.1				microRNA 4477b																		CCCCCAGTGGCGCCGGATCTA	0.602																																																	0																																												0					9	2011-09-12						"""ncRNAs / Micro RNAs"""	41898	non-coding RNA	RNA, micro							Standard	NR_039689		Approved	hsa-mir-4477b					9.37:g.68413569C>T				RNA	SNP	ENST00000581659.1	37																																																																																					0.602	MIR4477B-201	KNOWN	basic	miRNA	miRNA			NR_039689	
USH2A	7399	hgsc.bcm.edu;ucsc.edu	37	1	216595674	216595674	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr1:216595674delT	ENST00000307340.3	-	2	391	c.5delA	c.(4-6)aatfs	p.N2fs	USH2A_ENST00000366943.2_Frame_Shift_Del_p.N2fs|USH2A_ENST00000366942.3_Frame_Shift_Del_p.N2fs	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AACTGGGCAATTCATGTTTAC	0.398										HNSCC(13;0.011)																																							0													38.0	40.0	39.0					1																	216595674		2203	4300	6503	SO:0001589	frameshift_variant	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5delA	1.37:g.216595674delT	ENSP00000305941:p.Asn2fs		Q5VVM9|Q6S362|Q9NS27	Frame_Shift_Del	DEL	ENST00000307340.3	37	CCDS31025.1																																																																																				0.398	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1		NM_007123	
USP37	57695	broad.mit.edu;ucsc.edu	37	2	219353073	219353073	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr2:219353073G>T	ENST00000258399.3	-	15	1956	c.1544C>A	c.(1543-1545)cCa>cAa	p.P515Q	USP37_ENST00000415516.1_Missense_Mutation_p.P443Q|USP37_ENST00000475553.1_5'Flank|USP37_ENST00000454775.1_Missense_Mutation_p.P515Q|USP37_ENST00000418019.1_Missense_Mutation_p.P515Q	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	515	USP.				G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)	p.P515Q(1)		NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		AGGAGGGAGTGGTTTTTTCCT	0.323																																																	1	Substitution - Missense(1)	kidney(1)											115.0	116.0	116.0					2																	219353073		2203	4300	6503	SO:0001583	missense	57695			AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.1544C>A	2.37:g.219353073G>T	ENSP00000258399:p.Pro515Gln		A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	ENST00000258399.3	37	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073828	0.76415	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	T;T;T;T	0.43688	0.94;0.94;0.96;0.94	5.16	5.16	0.70880	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.184108	0.47093	D	0.000249	T	0.25531	0.0621	N	0.12182	0.205	0.80722	D	1	P;P	0.41265	0.744;0.68	B;B	0.38880	0.272;0.284	T	0.09292	-1.0681	10	0.72032	D	0.01	-10.9939	10.2975	0.43633	0.1223:0.0:0.8777:0.0	.	443;515	Q86T82-2;Q86T82	.;UBP37_HUMAN	Q	515;515;443;515	ENSP00000258399:P515Q;ENSP00000393662:P515Q;ENSP00000400902:P443Q;ENSP00000396585:P515Q	ENSP00000258399:P515Q	P	-	2	0	USP37	219061317	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.437000	0.59955	2.587000	0.87381	0.655000	0.94253	CCA		0.323	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3		NM_020935	
VMO1	284013	broad.mit.edu	37	17	4689557	4689557	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr17:4689557C>T	ENST00000328739.5	-	1	170	c.91G>A	c.(91-93)Ggc>Agc	p.G31S	VMO1_ENST00000416307.2_Missense_Mutation_p.G31S|VMO1_ENST00000441199.2_Missense_Mutation_p.G31S|VMO1_ENST00000354194.4_Missense_Mutation_p.G31S|GLTPD2_ENST00000331264.7_5'Flank	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 homolog (chicken)	31						extracellular vesicular exosome (GO:0070062)		p.G31S(1)		kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						GCCGTGTAGCCGTTCCGGCCA	0.652																																																	1	Substitution - Missense(1)	kidney(1)											30.0	33.0	32.0					17																	4689557		2203	4300	6503	SO:0001583	missense	284013			AF521892	CCDS11055.1, CCDS45585.1, CCDS45586.1, CCDS45587.1	17p13.2	2013-03-07	2005-11-14						30387	protein-coding gene	gene with protein product						22025569	Standard	NM_182566		Approved		uc002fyx.3	Q7Z5L0		ENST00000328739.5:c.91G>A	17.37:g.4689557C>T	ENSP00000328397:p.Gly31Ser		C9JQ15|E9PAU9|E9PGP4|Q3SXP1|Q8IUY1	Missense_Mutation	SNP	ENST00000328739.5	37	CCDS11055.1	.	.	.	.	.	.	.	.	.	.	C	8.874	0.949900	0.18431	.	.	ENSG00000182853	ENST00000328739;ENST00000416307;ENST00000354194;ENST00000441199	T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79	4.71	1.63	0.23807	.	0.959470	0.08674	N	0.910511	T	0.55194	0.1905	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.27117	0.026;0.023;0.168;0.052	B;B;B;B	0.21708	0.003;0.007;0.036;0.005	T	0.36504	-0.9745	10	0.09338	T	0.73	-5.9514	5.9438	0.19207	0.0:0.6721:0.0:0.3279	.	31;31;31;31	C9JQ15;E9PAU9;E9PGP4;Q7Z5L0	.;.;.;VMO1_HUMAN	S	31	ENSP00000328397:G31S;ENSP00000390450:G31S;ENSP00000346133:G31S;ENSP00000408166:G31S	ENSP00000328397:G31S	G	-	1	0	VMO1	4636297	0.000000	0.05858	0.007000	0.13788	0.039000	0.13416	-0.136000	0.10405	0.426000	0.26116	0.563000	0.77884	GGC		0.652	VMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439587.1		NM_182566	
VPS13C	54832	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	62254726	62254726	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr15:62254726T>C	ENST00000261517.5	-	34	3520	c.3447A>G	c.(3445-3447)atA>atG	p.I1149M	VPS13C_ENST00000249837.3_Missense_Mutation_p.I1106M|VPS13C_ENST00000395898.3_Missense_Mutation_p.I1106M|VPS13C_ENST00000395896.4_Missense_Mutation_p.I1149M	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.I1149M(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CATTTCCCATTATTGACACAG	0.363																																																	2	Substitution - Missense(2)	kidney(2)											90.0	93.0	92.0					15																	62254726		2203	4300	6503	SO:0001583	missense	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.3447A>G	15.37:g.62254726T>C	ENSP00000261517:p.Ile1149Met			Missense_Mutation	SNP	ENST00000261517.5	37	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	T	18.13	3.555374	0.65425	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.43688	0.94;0.94;0.94	5.82	5.82	0.92795	.	0.055194	0.64402	D	0.000002	T	0.63450	0.2512	M	0.80508	2.5	0.45747	D	0.99864	D;D;D;D	0.76494	0.997;0.998;0.999;0.998	D;D;D;D	0.69654	0.949;0.944;0.965;0.942	T	0.65479	-0.6158	10	0.42905	T	0.14	.	11.8758	0.52546	0.1306:0.0:0.0:0.8694	.	1106;1149;1106;1149	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	M	1106;1149;1149;1149	ENSP00000249837:I1106M;ENSP00000261517:I1149M;ENSP00000379233:I1149M	ENSP00000249837:I1106M	I	-	3	3	VPS13C	60042018	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.206000	0.32321	2.218000	0.71995	0.533000	0.62120	ATA		0.363	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1		NM_017684	
WDFY4	57705	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	50034823	50034823	+	Silent	SNP	C	C	T	rs532618654		TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr10:50034823C>T	ENST00000325239.5	+	35	6117	c.6090C>T	c.(6088-6090)tcC>tcT	p.S2030S	WDFY4_ENST00000413659.2_3'UTR	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	2030						integral component of membrane (GO:0016021)		p.S2030S(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						AGTCCCTCTCCGAATGCCTCG	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		19998	0.0		0.0	False		,,,				2504	0.001																1	Substitution - coding silent(1)	kidney(1)											103.0	86.0	91.0					10																	50034823		692	1591	2283	SO:0001819	synonymous_variant	57705			AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.6090C>T	10.37:g.50034823C>T			B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Silent	SNP	ENST00000325239.5	37	CCDS44385.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.718|6.718	0.501186|0.501186	0.12822|0.12822	.|.	.|.	ENSG00000128815|ENSG00000128815	ENST00000265453|ENST00000312002	.|.	.|.	.|.	5.62|5.62	-10.5|-10.5	0.00291|0.00291	.|.	.|.	.|.	.|.	.|.	T|.	0.31482|.	0.0798|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.39187|.	-0.9626|.	4|.	.|.	.|.	.|.	.|.	1.5277|1.5277	0.02529|0.02529	0.2228:0.1721:0.1511:0.454|0.2228:0.1721:0.1511:0.454	.|.	.|.	.|.	.|.	L|X	117|1121	.|.	.|.	P|R	+|+	2|1	0|2	WDFY4|WDFY4	49704829|49704829	0.000000|0.000000	0.05858|0.05858	0.208000|0.208000	0.23602|0.23602	0.839000|0.839000	0.47603|0.47603	-2.647000|-2.647000	0.00860|0.00860	-2.000000|-2.000000	0.00965|0.00965	-2.032000|-2.032000	0.00423|0.00423	CCG|CGA		0.493	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			XM_033379	
CFAP44	55779	broad.mit.edu	37	3	113128137	113128137	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr3:113128137A>G	ENST00000295868.2	-	7	868	c.706T>C	c.(706-708)Ttt>Ctt	p.F236L	WDR52-AS1_ENST00000473329.1_RNA|WDR52_ENST00000393845.2_Missense_Mutation_p.F236L|WDR52-AS1_ENST00000498480.1_RNA	NM_018338.3	NP_060808.2												p.F236L(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CTGTAGTTAAAGTCCACATAA	0.383																																																	1	Substitution - Missense(1)	kidney(1)											113.0	106.0	108.0					3																	113128137		2203	4300	6503	SO:0001583	missense	55779																														ENST00000295868.2:c.706T>C	3.37:g.113128137A>G	ENSP00000295868:p.Phe236Leu			Missense_Mutation	SNP	ENST00000295868.2	37	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.071270	0.76301	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.09350	4.68;2.99	6.04	6.04	0.98038	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.40546	0.1121	M	0.87617	2.895	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.41324	-0.9515	9	0.72032	D	0.01	.	16.5885	0.84745	1.0:0.0:0.0:0.0	.	236	Q96MT7	WDR52_HUMAN	L	236	ENSP00000377428:F236L;ENSP00000295868:F236L	ENSP00000295868:F236L	F	-	1	0	WDR52	114610827	1.000000	0.71417	1.000000	0.80357	0.092000	0.18411	8.642000	0.91036	2.317000	0.78254	0.460000	0.39030	TTT		0.383	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			
ZNF232	7775	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	5009701	5009701	+	Silent	SNP	A	A	G			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr17:5009701A>G	ENST00000250076.3	-	5	1407	c.753T>C	c.(751-753)acT>acC	p.T251T	ZNF232_ENST00000575538.1_5'UTR|ZNF232_ENST00000416429.2_3'UTR|ZNF232_ENST00000575898.1_Silent_p.T242T	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	224					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T251T(1)		kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						TAGAGGTGTCAGTAGCAAGTT	0.493																																																	1	Substitution - coding silent(1)	kidney(1)											111.0	107.0	108.0					17																	5009701		2203	4300	6503	SO:0001819	synonymous_variant	7775			AF080169	CCDS11068.1	17p13.2	2013-01-09			ENSG00000167840	ENSG00000167840		"""-"", ""Zinc fingers, C2H2-type"""	13026	protein-coding gene	gene with protein product						11311944	Standard	NM_014519		Approved	ZSCAN11	uc002gat.3	Q9UNY5	OTTHUMG00000099450	ENST00000250076.3:c.753T>C	17.37:g.5009701A>G				Silent	SNP	ENST00000250076.3	37	CCDS11068.1																																																																																				0.493	ZNF232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216915.1		NM_014519	
ZNF256	10172	broad.mit.edu	37	19	58453894	58453894	+	Silent	SNP	T	T	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr19:58453894T>A	ENST00000282308.3	-	3	478	c.282A>T	c.(280-282)atA>atT	p.I94I	ZNF256_ENST00000598928.1_Missense_Mutation_p.Y52F	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	94	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I94I(2)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		CTGGGCCACATATCTCACAGG	0.502																																					NSCLC(55;1313 1552 8040 11996)												2	Substitution - coding silent(2)	kidney(2)											155.0	145.0	148.0					19																	58453894		2203	4300	6503	SO:0001819	synonymous_variant	10172			AF067165	CCDS12966.1	19q13	2013-01-08				ENSG00000152454		"""Zinc fingers, C2H2-type"", ""-"""	13049	protein-coding gene	gene with protein product		606956					Standard	NM_005773		Approved	BMZF-3	uc002qqu.3	Q9Y2P7		ENST00000282308.3:c.282A>T	19.37:g.58453894T>A			B2RA92|Q53Y85|Q9BV71	Silent	SNP	ENST00000282308.3	37	CCDS12966.1																																																																																				0.502	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466702.1			
ZNF345	25850	hgsc.bcm.edu	37	19	37368165	37368166	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr19:37368165_37368166insT	ENST00000529555.1	+	2	1221_1222	c.433_434insT	c.(433-435)cccfs	p.P145fs	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_Frame_Shift_Ins_p.P145fs|ZNF345_ENST00000589046.1_Frame_Shift_Ins_p.P145fs|ZNF345_ENST00000526123.1_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	145					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGGTGAGAAACCCTATGAGTGT	0.426																																																	0																																										SO:0001589	frameshift_variant	25850			X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"""Zinc fingers, C2H2-type"""	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	Exception_encountered	19.37:g.37368165_37368166insT	ENSP00000431202:p.Pro145fs			Frame_Shift_Ins	INS	ENST00000529555.1	37	CCDS12497.1																																																																																				0.426	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1			
ZNF345	25850	hgsc.bcm.edu	37	19	37368169	37368169	+	Frame_Shift_Del	DEL	A	A	-	rs559952114		TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr19:37368169delA	ENST00000529555.1	+	2	1225	c.437delA	c.(436-438)tatfs	p.Y146fs	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_Frame_Shift_Del_p.Y146fs|ZNF345_ENST00000589046.1_Frame_Shift_Del_p.Y146fs|ZNF345_ENST00000526123.1_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	146					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGAAACCCTATGAGTGTAAG	0.428																																																	0													68.0	67.0	67.0					19																	37368169		2203	4300	6503	SO:0001589	frameshift_variant	25850			X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"""Zinc fingers, C2H2-type"""	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.437delA	19.37:g.37368169delA	ENSP00000431202:p.Tyr146fs			Frame_Shift_Del	DEL	ENST00000529555.1	37	CCDS12497.1																																																																																				0.428	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1			
ZNF256	10172	broad.mit.edu	37	19	58453896	58453896	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr19:58453896T>G	ENST00000282308.3	-	3	476	c.280A>C	c.(280-282)Ata>Cta	p.I94L	ZNF256_ENST00000598928.1_Missense_Mutation_p.R51S	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	94	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I94L(2)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		GGGCCACATATCTCACAGGGG	0.502																																					NSCLC(55;1313 1552 8040 11996)												2	Substitution - Missense(2)	kidney(2)											151.0	142.0	145.0					19																	58453896		2203	4300	6503	SO:0001583	missense	10172			AF067165	CCDS12966.1	19q13	2013-01-08				ENSG00000152454		"""Zinc fingers, C2H2-type"", ""-"""	13049	protein-coding gene	gene with protein product		606956					Standard	NM_005773		Approved	BMZF-3	uc002qqu.3	Q9Y2P7		ENST00000282308.3:c.280A>C	19.37:g.58453896T>G	ENSP00000282308:p.Ile94Leu		B2RA92|Q53Y85|Q9BV71	Missense_Mutation	SNP	ENST00000282308.3	37	CCDS12966.1	.	.	.	.	.	.	.	.	.	.	.	12.93	2.086416	0.36855	.	.	ENSG00000152454	ENST00000282308	T	0.27557	1.66	3.42	2.39	0.29439	Zinc finger, C2H2-like (1);Krueppel-associated box (1);Zinc finger, C2H2 (2);	.	.	.	.	T	0.18593	0.0446	N	0.16233	0.39	0.09310	N	1	B	0.17465	0.022	B	0.23716	0.048	T	0.24440	-1.0160	9	0.39692	T	0.17	.	6.8699	0.24115	0.0:0.1174:0.0:0.8826	.	94	Q9Y2P7	ZN256_HUMAN	L	94	ENSP00000282308:I94L	ENSP00000282308:I94L	I	-	1	0	ZNF256	63145708	0.000000	0.05858	0.001000	0.08648	0.513000	0.34164	0.741000	0.26202	0.513000	0.28278	0.383000	0.25322	ATA		0.502	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466702.1			
ZNF496	84838	broad.mit.edu;ucsc.edu	37	1	247463877	247463877	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr1:247463877G>C	ENST00000294753.4	-	9	2172	c.1708C>G	c.(1708-1710)Cgc>Ggc	p.R570G	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Missense_Mutation_p.R606G	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	570					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R570G(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CGCTCGTGGCGGAGGAGGTCA	0.652																																																	1	Substitution - Missense(1)	kidney(1)											57.0	59.0	58.0					1																	247463877		2203	4300	6503	SO:0001583	missense	84838			BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1708C>G	1.37:g.247463877G>C	ENSP00000294753:p.Arg570Gly		Q8TBS2	Missense_Mutation	SNP	ENST00000294753.4	37	CCDS1631.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.379470	0.61845	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.56103	0.48;0.48	4.32	4.32	0.51571	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49305	D	0.000142	T	0.68805	0.3041	M	0.73217	2.22	0.32052	N	0.596854	D;D	0.71674	0.998;0.99	D;P	0.65987	0.94;0.894	T	0.75202	-0.3401	10	0.54805	T	0.06	-40.7577	14.6891	0.69070	0.0:0.0:1.0:0.0	.	606;570	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	G	570;606	ENSP00000294753:R570G;ENSP00000355454:R606G	ENSP00000294753:R570G	R	-	1	0	ZNF496	245530500	0.000000	0.05858	1.000000	0.80357	0.726000	0.41606	-0.130000	0.10498	2.388000	0.81334	0.591000	0.81541	CGC		0.652	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2		NM_032752	
ZNF621	285268	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	40574189	40574189	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr3:40574189C>A	ENST00000339296.5	+	5	1380	c.928C>A	c.(928-930)Cag>Aag	p.Q310K	ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000403205.2_Missense_Mutation_p.Q310K|ZNF621_ENST00000431278.1_Missense_Mutation_p.Q199K|ZNF621_ENST00000310898.1_Intron	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	310					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q310K(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		CATTCAGCATCAGAGAGTTCA	0.428																																																	1	Substitution - Missense(1)	kidney(1)											77.0	74.0	75.0					3																	40574189		2203	4300	6503	SO:0001583	missense	285268			AK127181	CCDS2693.1, CCDS74920.1	3p21.33	2013-01-08			ENSG00000172888	ENSG00000172888		"""Zinc fingers, C2H2-type"", ""-"""	24787	protein-coding gene	gene with protein product							Standard	XM_005265079		Approved	FLJ45246	uc003ckm.2	Q6ZSS3	OTTHUMG00000131389	ENST00000339296.5:c.928C>A	3.37:g.40574189C>A	ENSP00000340841:p.Gln310Lys		Q14DC7|Q8TE91	Missense_Mutation	SNP	ENST00000339296.5	37	CCDS2693.1	.	.	.	.	.	.	.	.	.	.	c	13.52	2.260892	0.39995	.	.	ENSG00000172888	ENST00000403205;ENST00000339296;ENST00000431278	T;T;T	0.07216	3.21;3.21;3.21	3.43	3.43	0.39272	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10294	0.0252	N	0.05554	-0.025	0.80722	D	1	P;D	0.54047	0.952;0.964	P;P	0.58454	0.647;0.839	T	0.35624	-0.9781	9	0.66056	D	0.02	.	13.1945	0.59730	0.0:1.0:0.0:0.0	.	199;310	C9JZC2;Q6ZSS3	.;ZN621_HUMAN	K	310;310;199	ENSP00000386051:Q310K;ENSP00000340841:Q310K;ENSP00000413236:Q199K	ENSP00000340841:Q310K	Q	+	1	0	ZNF621	40549193	0.000000	0.05858	0.994000	0.49952	0.929000	0.56500	0.384000	0.20668	2.222000	0.72286	0.650000	0.86243	CAG		0.428	ZNF621-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254178.2		NM_198484	
ZNF799	90576	broad.mit.edu;hgsc.bcm.edu	37	19	12501322	12501322	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-4811-01A-01D-1501-10	TCGA-B0-4811-11A-02D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a46182dc-2481-4911-9f6b-9532666f9f8c	96a5756f-57e4-4f88-9a51-b92d406a578a	g.chr19:12501322delA	ENST00000430385.3	-	4	2090	c.1890delT	c.(1888-1890)tttfs	p.F630fs	ZNF799_ENST00000419318.1_Frame_Shift_Del_p.F598fs|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	630					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TGAGAGAAGCAAATGCTTTCC	0.368																																																	0													107.0	112.0	110.0					19																	12501322		2203	4299	6502	SO:0001589	frameshift_variant	90576			BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1890delT	19.37:g.12501322delA	ENSP00000411084:p.Phe630fs			Frame_Shift_Del	DEL	ENST00000430385.3	37	CCDS45989.1																																																																																				0.368	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2		NM_001080821	
