#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ABCE1	6059	broad.mit.edu;hgsc.bcm.edu	37	4	146041212	146041212	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr4:146041212C>A	ENST00000296577.4	+	11	1566	c.1051C>A	c.(1051-1053)Cca>Aca	p.P351T	OTUD4_ENST00000455611.2_Intron|ABCE1_ENST00000502803.1_3'UTR	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	351	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				negative regulation of catalytic activity (GO:0043086)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|iron-sulfur cluster binding (GO:0051536)|ribonuclease inhibitor activity (GO:0008428)	p.P351T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					GTATAAATATCCAGGAATGAA	0.353																																																	1	Substitution - Missense(1)	kidney(1)											68.0	73.0	72.0					4																	146041212		2203	4298	6501	SO:0001583	missense	6059			X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163		"""ATP binding cassette transporters / subfamily E"""	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I		7539425	Standard	NM_002940		Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.1051C>A	4.37:g.146041212C>A	ENSP00000296577:p.Pro351Thr	Somatic		WXS	Illumina HiSeq	Phase_I	O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Missense_Mutation	SNP	ENST00000296577.4	37	CCDS34071.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425011	0.83667	.	.	ENSG00000164163	ENST00000296577	D	0.94457	-3.43	5.31	5.31	0.75309	ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.95859	0.8652	L	0.48642	1.525	0.80722	D	1	D	0.63880	0.993	D	0.64687	0.928	D	0.95048	0.8184	10	0.39692	T	0.17	-10.3809	19.3284	0.94273	0.0:1.0:0.0:0.0	.	351	P61221	ABCE1_HUMAN	T	351	ENSP00000296577:P351T	ENSP00000296577:P351T	P	+	1	0	ABCE1	146260662	1.000000	0.71417	0.953000	0.39169	0.996000	0.88848	7.783000	0.85696	2.623000	0.88846	0.555000	0.69702	CCA		0.353	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365104.1		NM_002940	
ABLIM1	3983	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	116307474	116307474	+	Silent	SNP	C	C	T			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr10:116307474C>T	ENST00000277895.5	-	5	832	c.735G>A	c.(733-735)caG>caA	p.Q245Q	ABLIM1_ENST00000533213.2_Silent_p.Q185Q|ABLIM1_ENST00000369252.4_Silent_p.Q185Q	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	245	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.Q245Q(1)|p.Q185Q(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CCAAGTGCCACTGCTTATCCA	0.567																																																	2	Substitution - coding silent(2)	kidney(2)											62.0	55.0	57.0					10																	116307474		2203	4300	6503	SO:0001819	synonymous_variant	3983			AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.735G>A	10.37:g.116307474C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Silent	SNP	ENST00000277895.5	37	CCDS7590.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.342011	0.24339	.	.	ENSG00000099204	ENST00000392955	.	.	.	5.53	2.66	0.31614	.	.	.	.	.	T	0.60560	0.2278	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58831	-0.7567	4	.	.	.	.	11.1656	0.48541	0.0:0.8049:0.0:0.1951	.	.	.	.	N	154	.	.	S	-	2	0	ABLIM1	116297464	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.433000	0.44793	1.362000	0.46000	0.561000	0.74099	AGT		0.567	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3			
ABO	28	hgsc.bcm.edu	37	9	136131057	136131057	+	RNA	DEL	G	G	-	rs8176750|rs56392308	byFrequency	TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr9:136131057delG	ENST00000453660.2	-	0	1071				RP11-430N14.4_ENST00000606717.1_RNA			P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation (GO:0006486)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosylgalactoside 3-alpha-galactosyltransferase activity (GO:0004381)|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity (GO:0004380)|metal ion binding (GO:0046872)	p.P353fs?(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		AGCCGCTCACGGGTTCCGGAC	0.662													GGG|GGG|GG|deletion	242	0.0483227	0.0658	0.0432	5008	,	,		13669	0.0		0.0954	False		,,,				2504	0.0297																1	Deletion - Frameshift(1)	central_nervous_system(1)								234,3304		17,200,1552	9.0	10.0	10.0			-7.1	0.0	9	dbSNP_129	10	533,7273		35,463,3405	no	frameshift	ABO	NM_020469.2		52,663,4957	A1A1,A1R,RR		6.8281,6.6139,6.7613			136131057	767,10577	1853	4054	5907			28			AF134415		9q34.2	2014-07-19			ENSG00000175164	ENSG00000175164	2.4.1.40, 2.4.1.37	"""Blood group antigens"", ""Glycosyltransferase family 6 domain containing"""	79	protein-coding gene	gene with protein product		110300				184030	Standard	NM_020469		Approved	A3GALNT, A3GALT1	uc004cda.1	P16442	OTTHUMG00000020872		9.37:g.136131057delG		Somatic		WXS	Illumina HiSeq	Phase_I	B0JDB9|O14758|Q14490|Q53I57|Q6ISD4|Q6KFZ2|Q70V27|Q99484|Q99485|Q9NY01|Q9UQ68|Q9UQ69	Frame_Shift_Del	DEL	ENST00000453660.2	37																																																																																					0.662	ABO-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000054907.4		NM_020469	
ANK3	288	hgsc.bcm.edu;ucsc.edu	37	10	61865763	61865764	+	Frame_Shift_Del	DEL	TT	TT	-	rs371356572		TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	TT	TT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr10:61865763_61865764delTT	ENST00000280772.2	-	28	3418_3419	c.3227_3228delAA	c.(3226-3228)gaafs	p.E1076fs	ANK3_ENST00000503366.1_Frame_Shift_Del_p.E1077fs|ANK3_ENST00000355288.2_Frame_Shift_Del_p.E210fs|ANK3_ENST00000373827.2_Frame_Shift_Del_p.E1070fs	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1076	ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GAACAATGAGTTCTCTCTCTTT	0.361																																																	0																																										SO:0001589	frameshift_variant	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3227_3228delAA	10.37:g.61865763_61865764delTT	ENSP00000280772:p.Glu1076fs	Somatic		WXS	Illumina HiSeq	Phase_I	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Frame_Shift_Del	DEL	ENST00000280772.2	37	CCDS7258.1																																																																																				0.361	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4		NM_020987	
ANKHD1	54882	hgsc.bcm.edu;ucsc.edu	37	5	139864742	139864743	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	AT	AT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr5:139864742_139864743delAT	ENST00000360839.2	+	12	2061_2062	c.1907_1908delAT	c.(1906-1908)catfs	p.H636fs	ANKHD1_ENST00000297183.6_Frame_Shift_Del_p.H636fs|ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.H636fs	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	636						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATAATGATCATACAGTAGTGT	0.45																																																	0																																										SO:0001589	frameshift_variant	54882			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.1907_1908delAT	5.37:g.139864742_139864743delAT	ENSP00000354085:p.His636fs	Somatic		WXS	Illumina HiSeq	Phase_I	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Frame_Shift_Del	DEL	ENST00000360839.2	37	CCDS4225.1																																																																																				0.450	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1		NM_017747	
ANKRD29	147463	hgsc.bcm.edu;ucsc.edu	37	18	21229082	21229083	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr18:21229082_21229083insA	ENST00000592179.1	-	2	250_251	c.96_97insT	c.(94-99)ttgaacfs	p.N33fs	ANKRD29_ENST00000322980.9_Frame_Shift_Ins_p.N33fs|ANKRD29_ENST00000284207.7_Frame_Shift_Ins_p.N33fs|ANKRD29_ENST00000585908.2_Frame_Shift_Ins_p.N33fs	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	33										breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CGGCCGCTGTTCAACAGCAGCT	0.569																																																	0																																										SO:0001589	frameshift_variant	147463			AK057782	CCDS11879.1	18q11.2	2013-01-10			ENSG00000154065	ENSG00000154065		"""Ankyrin repeat domain containing"""	27110	protein-coding gene	gene with protein product							Standard	NM_173505		Approved	FLJ25053	uc002kun.3	Q8N6D5	OTTHUMG00000131875	ENST00000592179.1:c.96_97insT	18.37:g.21229082_21229083insA	ENSP00000468354:p.Asn33fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2R972|Q6ZWE8|Q96LU9	Frame_Shift_Del	INS	ENST00000592179.1	37	CCDS11879.1																																																																																				0.569	ANKRD29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254825.1		NM_173505	
APOA5	116519	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	116661335	116661335	+	Missense_Mutation	SNP	G	G	A	rs546060544		TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr11:116661335G>A	ENST00000227665.4	-	3	644	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C	ZNF259_ENST00000227322.3_5'Flank|APOA5_ENST00000542499.1_Missense_Mutation_p.R204C			Q6Q788	APOA5_HUMAN	apolipoprotein A-V	204					acylglycerol homeostasis (GO:0055090)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|organ regeneration (GO:0031100)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)	chylomicron (GO:0042627)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|lipase activator activity (GO:0060229)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|lipoprotein particle receptor binding (GO:0070325)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylcholine binding (GO:0031210)|phospholipid binding (GO:0005543)	p.R204C(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		TGCACGTGGCGCCCGATGCCG	0.701													G|||	1	0.000199681	0.0	0.0	5008	,	,		13685	0.0		0.001	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)											14.0	17.0	16.0					11																	116661335		2180	4259	6439	SO:0001583	missense	116519			AF202889	CCDS8376.2	11q23	2013-01-24			ENSG00000110243	ENSG00000110243		"""Apolipoproteins"""	17288	protein-coding gene	gene with protein product		606368				11588264, 11577099	Standard	NM_001166598		Approved	RAP3, APOA-V	uc009yzf.3	Q6Q788	OTTHUMG00000046116	ENST00000227665.4:c.610C>T	11.37:g.116661335G>A	ENSP00000227665:p.Arg204Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B0YIV9|Q3MIK6|Q6UWK9|Q9UBJ3	Missense_Mutation	SNP	ENST00000227665.4	37	CCDS8376.2	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514370	0.85389	.	.	ENSG00000110243	ENST00000227665;ENST00000542499	T;T	0.74315	-0.83;-0.83	4.84	4.84	0.62591	Apolipoprotein/apolipophorin (1);	1.167800	0.06305	N	0.701598	D	0.83617	0.5293	L	0.57536	1.79	0.40229	D	0.977821	D;D	0.76494	0.999;0.995	P;P	0.58077	0.832;0.832	T	0.77008	-0.2747	10	0.66056	D	0.02	-6.7753	15.8945	0.79325	0.0:0.0:1.0:0.0	.	201;204	B0YIW1;Q6Q788	.;APOA5_HUMAN	C	204	ENSP00000227665:R204C;ENSP00000445002:R204C	ENSP00000227665:R204C	R	-	1	0	APOA5	116166545	0.981000	0.34729	0.977000	0.42913	0.903000	0.53119	3.415000	0.52700	2.501000	0.84356	0.650000	0.86243	CGC		0.701	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106285.2			
ARMCX3	51566	hgsc.bcm.edu;ucsc.edu	37	X	100880719	100880719	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chrX:100880719delT	ENST00000341189.4	+	5	1616	c.750delT	c.(748-750)cgtfs	p.R250fs	RP4-545K15.5_ENST00000564612.1_RNA|ARMCX3_ENST00000537169.1_Frame_Shift_Del_p.R250fs|ARMCX3_ENST00000471229.2_Frame_Shift_Del_p.R250fs|ARMCX3-AS1_ENST00000454228.1_RNA	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	250					cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						ACTTTTTTCGTTTATTTTCAG	0.413																																																	0													81.0	72.0	75.0					X																	100880719		2203	4300	6503	SO:0001589	frameshift_variant	51566			AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"""Armadillo repeat containing"""	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.750delT	X.37:g.100880719delT	ENSP00000340672:p.Arg250fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q53HC6|Q7LCF5|Q9NPE4	Frame_Shift_Del	DEL	ENST00000341189.4	37	CCDS14489.1																																																																																				0.413	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057568.2		NM_016607	
ATP1B1	481	broad.mit.edu	37	1	169100955	169100955	+	3'UTR	SNP	A	A	T			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr1:169100955A>T	ENST00000367816.1	+	0	1603				ATP1B1_ENST00000367815.4_3'UTR|ATP1B1_ENST00000499679.3_3'UTR|ATP1B1_ENST00000367813.3_3'UTR			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide						blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of calcium:sodium antiporter activity (GO:1903281)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|protein transport into plasma membrane raft (GO:0044861)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression (GO:0010468)|relaxation of cardiac muscle (GO:0055119)|response to hypoxia (GO:0001666)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|MHC class II protein complex binding (GO:0023026)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					AATGTAAATTAAAGTGTAGCA	0.313																																																	0																																										SO:0001624	3_prime_UTR_variant	481			U16799	CCDS1276.1	1q24.2	2012-10-22			ENSG00000143153	ENSG00000143153		"""ATPases / P-type"""	804	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit beta-1"", ""sodium pump subunit beta-1"", ""sodium-potassium ATPase subunit beta 1 (non-catalytic)"""	182330		ATP1B			Standard	NM_001677		Approved		uc001gfr.1	P05026	OTTHUMG00000034590	ENST00000367816.1:c.*162A>T	1.37:g.169100955A>T		Somatic		WXS	Illumina GAIIx	Phase_I	Q5TGZ3	RNA	SNP	ENST00000367816.1	37	CCDS1276.1																																																																																				0.313	ATP1B1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083696.1			
BOC	91653	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	112969403	112969403	+	Splice_Site	SNP	C	C	T			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr3:112969403C>T	ENST00000495514.1	+	4	803	c.99C>T	c.(97-99)aaC>aaT	p.N33N	BOC_ENST00000273395.4_Splice_Site_p.N33N|BOC_ENST00000355385.3_Splice_Site_p.N33N|BOC_ENST00000484034.1_Splice_Site_p.N33N|BOC_ENST00000485230.1_Splice_Site_p.N33N			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	33					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.N33N(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			TTCCTCCAGACGAGGTCCCTC	0.552																																																	1	Substitution - coding silent(1)	kidney(1)											83.0	81.0	82.0					3																	112969403		2203	4300	6503	SO:0001630	splice_region_variant	91653			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.98-1C>T	3.37:g.112969403C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Silent	SNP	ENST00000495514.1	37	CCDS2971.1																																																																																				0.552	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3		NM_033254	Silent
BPIFC	254240	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	32853321	32853321	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr22:32853321A>T	ENST00000397452.1	-	2	163	c.53T>A	c.(52-54)cTc>cAc	p.L18H	BPIFC_ENST00000397450.1_Missense_Mutation_p.L18H|BPIFC_ENST00000300399.3_Missense_Mutation_p.L18H|BPIFC_ENST00000432451.2_5'UTR|BPIFC_ENST00000534972.1_5'UTR			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	18						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)	p.L18H(1)									TGAGACATAGAGATTCCACAG	0.433											OREG0003513	type=REGULATORY REGION|Gene=BPIL2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					1	Substitution - Missense(1)	kidney(1)											127.0	118.0	121.0					22																	32853321		2203	4300	6503	SO:0001583	missense	0			AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.53T>A	22.37:g.32853321A>T	ENSP00000380594:p.Leu18His	Somatic	835	WXS	Illumina HiSeq	Phase_I	A2RRF1	Missense_Mutation	SNP	ENST00000397452.1	37	CCDS13906.1	.	.	.	.	.	.	.	.	.	.	a	12.38	1.921852	0.33908	.	.	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000397450	T;T	0.06768	3.26;3.26	4.83	3.55	0.40652	.	0.782138	0.11789	N	0.529381	T	0.21921	0.0528	M	0.78916	2.43	0.20489	N	0.999892	D;D	0.67145	0.996;0.99	P;P	0.58873	0.847;0.707	T	0.06935	-1.0799	10	0.46703	T	0.11	-3.5439	7.0329	0.24977	0.8776:0.0:0.1224:0.0	.	18;18	Q5TI88;Q8NFQ6	.;BPIFC_HUMAN	H	18	ENSP00000380594:L18H;ENSP00000300399:L18H	ENSP00000300399:L18H	L	-	2	0	BPIFC	31183321	0.333000	0.24731	0.893000	0.35052	0.177000	0.22998	2.889000	0.48601	1.818000	0.53035	0.441000	0.28932	CTC		0.433	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2		NM_174932	
FAM208B	54906	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	5790452	5790452	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr10:5790452A>C	ENST00000328090.5	+	15	5693	c.5068A>C	c.(5068-5070)Atg>Ctg	p.M1690L		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1690								p.M1690L(1)									AGCAGGCAGAATGGCCAGTTT	0.463																																																	1	Substitution - Missense(1)	kidney(1)											57.0	59.0	59.0					10																	5790452		2141	4256	6397	SO:0001583	missense	0			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.5068A>C	10.37:g.5790452A>C	ENSP00000328426:p.Met1690Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	A	7.471	0.646714	0.14516	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.04360	3.64	5.23	5.23	0.72850	.	0.486069	0.20757	N	0.086224	T	0.04227	0.0117	N	0.24115	0.695	0.09310	N	1	P	0.38767	0.646	B	0.36464	0.225	T	0.45145	-0.9281	10	0.29301	T	0.29	.	12.647	0.56740	1.0:0.0:0.0:0.0	.	1690	Q5VWN6	F208B_HUMAN	L	1690;885	ENSP00000328426:M1690L	ENSP00000328426:M1690L	M	+	1	0	C10orf18	5830458	0.896000	0.30565	0.241000	0.24154	0.013000	0.08279	1.529000	0.35996	1.978000	0.57642	0.460000	0.39030	ATG		0.463	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2		NM_017782	
HECTD4	283450	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	112688106	112688106	+	Silent	SNP	G	G	C			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr12:112688106G>C	ENST00000430131.2	-	24	3671	c.2526C>G	c.(2524-2526)acC>acG	p.T842T	HECTD4_ENST00000550722.1_Silent_p.T1118T|HECTD4_ENST00000377560.5_Silent_p.T1092T			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	842					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.T1092T(1)|p.T842T(1)									CTTCCTCTATGGTCAGAGGCA	0.557																																																	2	Substitution - coding silent(2)	kidney(2)											127.0	118.0	121.0					12																	112688106		2203	4300	6503	SO:0001819	synonymous_variant	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.2526C>G	12.37:g.112688106G>C		Somatic		WXS	Illumina HiSeq	Phase_I	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37																																																																																					0.557	HECTD4-202	KNOWN	basic	protein_coding	protein_coding			NM_173813	
C21orf58	54058	hgsc.bcm.edu	37	21	47722405	47722405	+	Silent	SNP	G	G	A			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr21:47722405G>A	ENST00000291691.7	-	7	1943	c.807C>T	c.(805-807)gcC>gcT	p.A269A	C21orf58_ENST00000397680.1_Silent_p.A163A|C21orf58_ENST00000397679.1_Silent_p.A163A|C21orf58_ENST00000397683.1_Silent_p.A163A|C21orf58_ENST00000397682.3_Silent_p.A163A|C21orf58_ENST00000472607.1_5'UTR	NM_058180.3	NP_478060.2	P58505	CU058_HUMAN	chromosome 21 open reading frame 58	269								p.A269A(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9	Breast(49;0.112)			Colorectal(79;0.239)		CTACCTGCAGGGCTGGGGGCA	0.577																																																	1	Substitution - coding silent(1)	kidney(1)											27.0	24.0	25.0					21																	47722405		2203	4298	6501	SO:0001819	synonymous_variant	54058				CCDS13735.1, CCDS68229.1	21q22.3	2008-07-07			ENSG00000160298	ENSG00000160298			1300	protein-coding gene	gene with protein product							Standard	XM_005261149		Approved		uc002zjf.3	P58505	OTTHUMG00000090634	ENST00000291691.7:c.807C>T	21.37:g.47722405G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B3KPI1	Silent	SNP	ENST00000291691.7	37	CCDS13735.1																																																																																				0.577	C21orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207283.1		NM_058180	
CDCP1	64866	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	45134910	45134910	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr3:45134910C>G	ENST00000296129.1	-	6	1620	c.1486G>C	c.(1486-1488)Ggc>Cgc	p.G496R		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	496	CUB.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G496R(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CAGAAGGAGCCGAAGTACAGG	0.597																																																	1	Substitution - Missense(1)	kidney(1)											91.0	82.0	85.0					3																	45134910		2203	4300	6503	SO:0001583	missense	64866			AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.1486G>C	3.37:g.45134910C>G	ENSP00000296129:p.Gly496Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Missense_Mutation	SNP	ENST00000296129.1	37	CCDS2727.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883879	0.72410	.	.	ENSG00000163814	ENST00000296129	T	0.69435	-0.4	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.81791	0.4897	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83070	-0.0143	10	0.87932	D	0	.	18.0194	0.89251	0.0:1.0:0.0:0.0	.	496	Q9H5V8	CDCP1_HUMAN	R	496	ENSP00000296129:G496R	ENSP00000296129:G496R	G	-	1	0	CDCP1	45109914	0.997000	0.39634	0.968000	0.41197	0.483000	0.33249	5.019000	0.64060	2.695000	0.91970	0.561000	0.74099	GGC		0.597	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3		NM_022842	
CFH	3075	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	196642242	196642242	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr1:196642242G>A	ENST00000359637.2	+	2	255	c.193G>A	c.(193-195)Gta>Ata	p.V65I	CFH_ENST00000439155.2_Missense_Mutation_p.V65I|CFH_ENST00000496761.1_3'UTR|CFH_ENST00000367429.4_Missense_Mutation_p.V65I			P08603	CFAH_HUMAN	complement factor H	128	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.V65I(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGTAATAATGGTATGCAGGAA	0.378																																																	1	Substitution - Missense(1)	kidney(1)											82.0	88.0	86.0					1																	196642242		2203	4300	6503	SO:0001583	missense	3075			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.193G>A	1.37:g.196642242G>A	ENSP00000352658:p.Val65Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37		.	.	.	.	.	.	.	.	.	.	G	12.51	1.958425	0.34565	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.66280	-0.2;-0.2;-0.2	5.12	0.948	0.19561	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.39226	0.1070	L	0.34521	1.04	0.09310	N	1	B;P;B;B	0.45126	0.255;0.851;0.255;0.026	B;B;B;B	0.35470	0.048;0.203;0.048;0.022	T	0.18650	-1.0330	9	0.19590	T	0.45	.	3.7749	0.08656	0.3238:0.1831:0.4931:0.0	.	65;65;65;65	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	I	65	ENSP00000356399:V65I;ENSP00000402656:V65I;ENSP00000352658:V65I	ENSP00000352658:V65I	V	+	1	0	CFH	194908865	0.000000	0.05858	0.000000	0.03702	0.133000	0.20885	-0.550000	0.06034	0.145000	0.18977	0.561000	0.74099	GTA		0.378	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1		NM_000186	
CNP	1267	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	40120540	40120540	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr17:40120540C>T	ENST00000393892.3	+	2	602	c.458C>T	c.(457-459)gCg>gTg	p.A153V	CNP_ENST00000591072.1_Intron|CNP_ENST00000393888.1_Missense_Mutation_p.A133V|CNP_ENST00000472031.1_Intron	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	153					adult locomotory behavior (GO:0008344)|aging (GO:0007568)|axonogenesis (GO:0007409)|cyclic nucleotide catabolic process (GO:0009214)|microtubule cytoskeleton organization (GO:0000226)|oligodendrocyte differentiation (GO:0048709)|regulation of mitochondrial membrane permeability (GO:0046902)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule (GO:0005874)|microvillus (GO:0005902)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|myelin sheath abaxonal region (GO:0035748)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity (GO:0004113)|cyclic nucleotide binding (GO:0030551)|RNA binding (GO:0003723)	p.A153V(1)|p.A133V(1)		breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		CCCAAGACGGCGTGGCGGCTG	0.597																																																	2	Substitution - Missense(2)	kidney(2)											34.0	39.0	37.0					17																	40120540		2071	4189	6260	SO:0001583	missense	1267				CCDS11414.2	17q21	2008-02-05			ENSG00000173786	ENSG00000173786	3.1.4.37		2158	protein-coding gene	gene with protein product		123830				1322358	Standard	XM_006721701		Approved		uc002hyl.1	P09543	OTTHUMG00000133502	ENST00000393892.3:c.458C>T	17.37:g.40120540C>T	ENSP00000377470:p.Ala153Val	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000393892.3	37	CCDS11414.2	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883611	0.33255	.	.	ENSG00000173786	ENST00000393892;ENST00000393888	T;T	0.42900	0.96;0.96	4.73	4.73	0.59995	.	0.693016	0.14745	N	0.300931	T	0.25568	0.0622	N	0.08118	0	0.34751	D	0.731731	B;B	0.14012	0.009;0.007	B;B	0.12837	0.008;0.005	T	0.22347	-1.0219	10	0.30078	T	0.28	-29.4614	14.4182	0.67165	0.1477:0.8523:0.0:0.0	.	153;133	P09543;P09543-2	CN37_HUMAN;.	V	153;133	ENSP00000377470:A153V;ENSP00000377466:A133V	ENSP00000377466:A133V	A	+	2	0	CNP	37374066	0.001000	0.12720	0.455000	0.27031	0.929000	0.56500	0.822000	0.27352	2.452000	0.82932	0.455000	0.32223	GCG		0.597	CNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257443.2			
COL1A1	1277	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	48267076	48267076	+	Silent	SNP	A	A	T			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr17:48267076A>T	ENST00000225964.5	-	38	2749	c.2631T>A	c.(2629-2631)ccT>ccA	p.P877P		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	877	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.P877P(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	CAGCAGCACCAGGGAAACCAG	0.622			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																																	Dom	yes		17	17q21.31-q22	1277	"""collagen, type I, alpha 1"""	yes	M	1	Substitution - coding silent(1)	kidney(1)											49.0	54.0	52.0					17																	48267076		2202	4299	6501	SO:0001819	synonymous_variant	1277			Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.2631T>A	17.37:g.48267076A>T		Somatic		WXS	Illumina HiSeq	Phase_I	O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Silent	SNP	ENST00000225964.5	37	CCDS11561.1																																																																																				0.622	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			
COL6A6	131873	hgsc.bcm.edu;ucsc.edu	37	3	130300584	130300584	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr3:130300584delG	ENST00000358511.6	+	8	3758	c.3727delG	c.(3727-3729)gtgfs	p.V1243fs	COL6A6_ENST00000453409.2_Frame_Shift_Del_p.V1243fs	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1243	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGCTTTTCAAGTGACCAATGC	0.433																																																	0													99.0	98.0	99.0					3																	130300584		1993	4160	6153	SO:0001589	frameshift_variant	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.3727delG	3.37:g.130300584delG	ENSP00000351310:p.Val1243fs	Somatic		WXS	Illumina HiSeq	Phase_I	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Frame_Shift_Del	DEL	ENST00000358511.6	37	CCDS46911.1																																																																																				0.433	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5		NM_001102608	
CORO1A	11151	broad.mit.edu	37	16	30199863	30199863	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr16:30199863G>C	ENST00000219150.5	+	10	1552	c.1247G>C	c.(1246-1248)aGg>aCg	p.R416T	CORO1A_ENST00000565497.1_Intron|CORO1A_ENST00000570045.1_Missense_Mutation_p.R416T	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	416					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|calcium ion transport (GO:0006816)|cell-substrate adhesion (GO:0031589)|cellular component movement (GO:0006928)|cellular response to interleukin-4 (GO:0071353)|homeostasis of number of cells within a tissue (GO:0048873)|innate immune response (GO:0045087)|leukocyte chemotaxis (GO:0030595)|negative regulation of actin nucleation (GO:0051126)|phagocytosis (GO:0006909)|phagolysosome assembly (GO:0001845)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of T cell proliferation (GO:0042102)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|T cell homeostasis (GO:0043029)|uropod organization (GO:0032796)	actin filament (GO:0005884)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|phosphatidylinositol 3-kinase binding (GO:0043548)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.R416T(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						GGGCGCAGGAGGGCAGCACCA	0.672																																																	1	Substitution - Missense(1)	kidney(1)											10.0	13.0	12.0					16																	30199863		2183	4288	6471	SO:0001583	missense	11151			X89109	CCDS10673.1	16p11.2	2014-09-17	2001-11-28		ENSG00000102879	ENSG00000102879		"""Coronins"", ""WD repeat domain containing"""	2252	protein-coding gene	gene with protein product	"""Clabp TACO"""	605000	"""coronin, actin-binding protein, 1A"""			9778037	Standard	NM_007074		Approved	HCORO1, p57, coronin-1	uc002dww.3	P31146	OTTHUMG00000132148	ENST00000219150.5:c.1247G>C	16.37:g.30199863G>C	ENSP00000219150:p.Arg416Thr	Somatic		WXS	Illumina GAIIx	Phase_I	B2RBL1|Q2YD73	Missense_Mutation	SNP	ENST00000219150.5	37	CCDS10673.1	.	.	.	.	.	.	.	.	.	.	.	3.611	-0.079639	0.07141	.	.	ENSG00000102879	ENST00000219150	T	0.60299	0.2	4.96	-7.54	0.01332	.	1.493210	0.03935	N	0.286002	T	0.48295	0.1492	L	0.48642	1.525	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.30937	-0.9961	10	0.23302	T	0.38	-34.5537	14.173	0.65522	0.7072:0.0:0.2928:0.0	.	416	P31146	COR1A_HUMAN	T	416	ENSP00000219150:R416T	ENSP00000219150:R416T	R	+	2	0	CORO1A	30107364	0.000000	0.05858	0.001000	0.08648	0.735000	0.41995	-1.737000	0.01843	-1.934000	0.01051	-0.258000	0.10820	AGG		0.672	CORO1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255195.2		NM_007074	
CPSF3L	54973	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	1249171	1249171	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr1:1249171A>C	ENST00000435064.1	-	9	980	c.898T>G	c.(898-900)Ttt>Gtt	p.F300V	CPSF3L_ENST00000421495.2_Missense_Mutation_p.F42V|CPSF3L_ENST00000450926.2_Missense_Mutation_p.F278V|CPSF3L_ENST00000411962.1_Missense_Mutation_p.F202V|CPSF3L_ENST00000419704.1_Missense_Mutation_p.F199V|CPSF3L_ENST00000540437.1_Missense_Mutation_p.F306V|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000545578.1_Missense_Mutation_p.F271V	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	300					snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)	p.F300V(1)		endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		TTGAACTCAAACATGTTCCTC	0.587																																																	1	Substitution - Missense(1)	kidney(1)											189.0	141.0	158.0					1																	1249171		2202	4300	6502	SO:0001583	missense	54973			AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"""integrator complex subunit 11"""	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.898T>G	1.37:g.1249171A>C	ENSP00000413493:p.Phe300Val	Somatic		WXS	Illumina HiSeq	Phase_I	A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Missense_Mutation	SNP	ENST00000435064.1	37	CCDS21.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.800451	0.90538	.	.	ENSG00000127054	ENST00000435064;ENST00000411962;ENST00000294579;ENST00000419704;ENST00000540437;ENST00000450926;ENST00000545578;ENST00000434694	T;T;T;T;T;T	0.54675	0.67;0.67;0.67;0.67;0.56;0.67	5.26	5.26	0.73747	Beta-Casp domain (1);	0.107094	0.64402	D	0.000003	T	0.81173	0.4767	H	0.96398	3.815	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D	0.85130	0.993;0.996;0.997;0.995;0.993;0.996	D	0.87491	0.2427	10	0.87932	D	0	-20.5575	15.1815	0.72962	1.0:0.0:0.0:0.0	.	278;271;202;199;306;300	Q5TA45-3;B4DM87;C9IYS7;Q5TA45-2;G3V1S5;Q5TA45	.;.;.;.;.;INT11_HUMAN	V	300;202;193;199;306;278;271;330	ENSP00000413493:F300V;ENSP00000404886:F199V;ENSP00000445001:F306V;ENSP00000392848:F278V;ENSP00000444672:F271V;ENSP00000411233:F330V	ENSP00000294579:F193V	F	-	1	0	CPSF3L	1239034	1.000000	0.71417	0.997000	0.53966	0.936000	0.57629	8.789000	0.91839	1.995000	0.58328	0.533000	0.62120	TTT		0.587	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009360.2		NM_017871	
DNM1L	10059	hgsc.bcm.edu;ucsc.edu	37	12	32884434	32884435	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr12:32884434_32884435insA	ENST00000549701.1	+	11	1419_1420	c.1345_1346insA	c.(1345-1347)tacfs	p.Y449fs	YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000547312.1_Frame_Shift_Ins_p.Y449fs|DNM1L_ENST00000553257.1_Frame_Shift_Ins_p.Y462fs|DNM1L_ENST00000358214.5_Frame_Shift_Ins_p.Y462fs|DNM1L_ENST00000452533.2_Frame_Shift_Ins_p.Y449fs|DNM1L_ENST00000266481.6_Frame_Shift_Ins_p.Y449fs|DNM1L_ENST00000414834.2_Frame_Shift_Ins_p.Y246fs|DNM1L_ENST00000381000.4_Frame_Shift_Ins_p.Y462fs			O00429	DNM1L_HUMAN	dynamin 1-like	449	Interaction with GSK3B.|Middle domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CTGTAGCAATTACAGTACACAG	0.45																																																	0																																										SO:0001589	frameshift_variant	10059			AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.1346dupA	12.37:g.32884435_32884435dupA	ENSP00000450399:p.Tyr449fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Frame_Shift_Del	INS	ENST00000549701.1	37	CCDS8729.1																																																																																				0.450	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1		NM_012062	
DTNBP1	84062	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	15615585	15615585	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr6:15615585T>G	ENST00000344537.5	-	6	573	c.401A>C	c.(400-402)cAt>cCt	p.H134P	DTNBP1_ENST00000338950.5_Missense_Mutation_p.H134P|DTNBP1_ENST00000355917.3_Missense_Mutation_p.H134P	NM_032122.4	NP_115498.2	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	134					actin cytoskeleton reorganization (GO:0031532)|anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|blood coagulation (GO:0007596)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|neuron projection morphogenesis (GO:0048812)|platelet dense granule organization (GO:0060155)|positive regulation of gene expression (GO:0010628)|positive regulation of neurotransmitter secretion (GO:0001956)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of dopamine secretion (GO:0014059)	axon (GO:0030424)|BLOC-1 complex (GO:0031083)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|growth cone (GO:0030426)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)|synaptic vesicle membrane (GO:0030672)		p.H134P(2)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			GTCTTCCAGATGCAGCAGGTT	0.383									Hermansky-Pudlak syndrome																																								2	Substitution - Missense(2)	kidney(2)											132.0	127.0	129.0					6																	15615585		2203	4300	6503	SO:0001583	missense	84062	Familial Cancer Database	HPS, HPS1-8	AF394226	CCDS4534.1, CCDS4535.1, CCDS75404.1, CCDS75405.1	6p22.3	2013-09-27			ENSG00000047579	ENSG00000047579		"""Biogenesis of lysosomal organelles complex-1 subunits"""	17328	protein-coding gene	gene with protein product	"""dysbindin-1"", ""biogenesis of lysosomal organelles complex-1, subunit 8"""	607145				11316798	Standard	NM_032122		Approved	Dysbindin, My031, HPS7, DBND, BLOC1S8	uc003nbm.3	Q96EV8	OTTHUMG00000014295	ENST00000344537.5:c.401A>C	6.37:g.15615585T>G	ENSP00000341680:p.His134Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A8K3V3|Q5THY3|Q5THY4|Q96NV2|Q9H0U2|Q9H3J5	Missense_Mutation	SNP	ENST00000344537.5	37	CCDS4534.1	.	.	.	.	.	.	.	.	.	.	T	13.49	2.253345	0.39797	.	.	ENSG00000047579	ENST00000344537;ENST00000355917;ENST00000397306;ENST00000511762;ENST00000338950;ENST00000543749	T;T;T	0.30182	1.55;1.55;1.54	5.6	5.6	0.85130	.	0.203334	0.34507	N	0.003907	T	0.14960	0.0361	L	0.44542	1.39	0.29473	N	0.856903	B;B;B	0.31581	0.329;0.216;0.275	B;B;B	0.34346	0.18;0.18;0.086	T	0.09796	-1.0658	10	0.28530	T	0.3	.	14.7559	0.69564	0.0:0.0:0.0:1.0	.	134;134;134	F5GY46;Q96EV8-2;Q96EV8	.;.;DTBP1_HUMAN	P	134;134;53;99;134;134	ENSP00000341680:H134P;ENSP00000348183:H134P;ENSP00000344718:H134P	ENSP00000344718:H134P	H	-	2	0	DTNBP1	15723564	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.245000	0.43133	2.126000	0.65437	0.533000	0.62120	CAT		0.383	DTNBP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000039933.2		NM_032122	
EPB41L1	2036	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	34778270	34778270	+	Silent	SNP	C	C	T			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr20:34778270C>T	ENST00000338074.2	+	10	1259	c.1098C>T	c.(1096-1098)gtC>gtT	p.V366V	EPB41L1_ENST00000202028.5_Silent_p.V304V|EPB41L1_ENST00000373941.1_Silent_p.V366V|EPB41L1_ENST00000441639.1_Silent_p.V304V|EPB41L1_ENST00000373950.2_Silent_p.V269V|EPB41L1_ENST00000373946.3_Silent_p.V335V	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	366	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.V366V(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					TGTGGAAGGTCTGCATCGAGC	0.537																																																	1	Substitution - coding silent(1)	kidney(1)											84.0	71.0	75.0					20																	34778270		2203	4300	6503	SO:0001819	synonymous_variant	2036			AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.1098C>T	20.37:g.34778270C>T		Somatic		WXS	Illumina HiSeq	Phase_I	O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Silent	SNP	ENST00000338074.2	37	CCDS13271.1																																																																																				0.537	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3		NM_012156	
EXPH5	23086	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	108389044	108389044	+	Silent	SNP	G	G	T			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr11:108389044G>T	ENST00000265843.4	-	5	659	c.549C>A	c.(547-549)gtC>gtA	p.V183V	EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000443411.1_5'UTR|EXPH5_ENST00000428840.1_Silent_p.V107V|EXPH5_ENST00000525344.1_Silent_p.V176V	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	183					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)	p.V183V(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTGGCTTTGGGACAAATGTAC	0.418																																																	1	Substitution - coding silent(1)	kidney(1)											97.0	84.0	88.0					11																	108389044		2201	4298	6499	SO:0001819	synonymous_variant	23086				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.549C>A	11.37:g.108389044G>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q2KHM1|Q9Y4D6	Silent	SNP	ENST00000265843.4	37	CCDS8341.1																																																																																				0.418	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1		NM_015065	
FAM162A	26355	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	122123119	122123119	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr3:122123119G>A	ENST00000477892.1	+	3	256	c.172G>A	c.(172-174)Gtg>Atg	p.V58M	FAM162A_ENST00000469967.1_Missense_Mutation_p.V58M|FAM162A_ENST00000232125.5_Missense_Mutation_p.V48M	NM_014367.3	NP_055182.3	Q96A26	F162A_HUMAN	family with sequence similarity 162, member A	58					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to hypoxia (GO:0071456)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|transformed cell apoptotic process (GO:0006927)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.V58M(2)		breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						TTACAACAGAGTGCCTTTACA	0.373																																																	2	Substitution - Missense(2)	kidney(2)											80.0	76.0	77.0					3																	122123119		1850	4078	5928	SO:0001583	missense	26355			AF191020	CCDS43139.1	3q21.1	2008-06-05	2008-06-05	2008-06-05	ENSG00000114023	ENSG00000114023			17865	protein-coding gene	gene with protein product		608017	"""chromosome 3 open reading frame 28"""	C3orf28		11085516	Standard	NM_014367		Approved	E2IG5	uc003eez.3	Q96A26	OTTHUMG00000159494	ENST00000477892.1:c.172G>A	3.37:g.122123119G>A	ENSP00000419088:p.Val58Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q9NRN6|Q9UJX8	Missense_Mutation	SNP	ENST00000477892.1	37	CCDS43139.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.3|21.3	4.131030|4.131030	0.77549|0.77549	.|.	.|.	ENSG00000114023|ENSG00000114023	ENST00000440333|ENST00000232125;ENST00000477892;ENST00000469967	.|T;T;T	.|0.34072	.|1.38;1.38;1.38	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|1.050910	.|0.07434	.|N	.|0.896170	T|T	0.66655|0.66655	0.2811|0.2811	M|M	0.82517|0.82517	2.595|2.595	0.36383|0.36383	D|D	0.862051|0.862051	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.75020	.|0.985;0.964	T|T	0.62039|0.62039	-0.6938|-0.6938	6|10	0.27785|0.62326	T|D	0.31|0.03	.|.	15.093|15.093	0.72211|0.72211	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|58;58	.|E9PH05;Q96A26	.|.;F162A_HUMAN	N|M	58|48;58;58	.|ENSP00000232125:V48M;ENSP00000419088:V58M;ENSP00000419491:V58M	ENSP00000405770:S58N|ENSP00000232125:V48M	S|V	+|+	2|1	0|0	FAM162A|FAM162A	123605809|123605809	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	3.965000|3.965000	0.56788|0.56788	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	AGT|GTG		0.373	FAM162A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355766.1		NM_014367	
FAM19A2	338811	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	62147529	62147529	+	Splice_Site	SNP	T	T	A			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr12:62147529T>A	ENST00000416284.3	-	4	1844		c.e4-2		FAM19A2_ENST00000551449.1_Intron|FAM19A2_ENST00000550003.1_Splice_Site|FAM19A2_ENST00000551619.1_Splice_Site	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2							cytoplasm (GO:0005737)		p.?(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		CTATTGAAGCTATAAGAGAGA	0.388																																																	1	Unknown(1)	kidney(1)											87.0	84.0	85.0					12																	62147529		2203	4300	6503	SO:0001630	splice_region_variant	338811			AY325115	CCDS8962.1	12q14.1	2012-10-03			ENSG00000198673	ENSG00000198673			21589	protein-coding gene	gene with protein product						15028294	Standard	NM_178539		Approved	TAFA-2	uc001sqw.3	Q8N3H0	OTTHUMG00000170207	ENST00000416284.3:c.260-2A>T	12.37:g.62147529T>A		Somatic		WXS	Illumina HiSeq	Phase_I	B3KVV4|Q4G0R9|Q68DK0|Q6GTX6	Splice_Site	SNP	ENST00000416284.3	37	CCDS8962.1	.	.	.	.	.	.	.	.	.	.	T	16.36	3.102409	0.56183	.	.	ENSG00000198673	ENST00000416284;ENST00000551619;ENST00000552075;ENST00000549958	.	.	.	4.64	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0949	0.65013	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM19A2	60433796	1.000000	0.71417	0.876000	0.34364	0.571000	0.35966	7.899000	0.87370	1.743000	0.51761	0.455000	0.32223	.		0.388	FAM19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407967.2		NM_178539	Intron
FLT3	2322	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	28597599	28597599	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr13:28597599T>C	ENST00000241453.7	-	19	2387	c.2306A>G	c.(2305-2307)gAa>gGa	p.E769G	FLT3_ENST00000537084.1_Missense_Mutation_p.E769G|FLT3_ENST00000380982.4_Missense_Mutation_p.E769G	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	769	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.E769G(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTTTTGGTTTTCATATTCAAT	0.363			"""Mis, O"""		"""AML, ALL"""																																			Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	1	Substitution - Missense(1)	kidney(1)											124.0	114.0	118.0					13																	28597599		2202	4300	6502	SO:0001583	missense	2322			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2306A>G	13.37:g.28597599T>C	ENSP00000241453:p.Glu769Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	T	16.09	3.024063	0.54683	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	D;D;D	0.89050	-2.46;-2.46;-2.46	5.28	5.28	0.74379	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.194743	0.38605	N	0.001639	D	0.86506	0.5949	N	0.20986	0.625	0.46044	D	0.99883	D;D	0.61697	0.99;0.97	P;P	0.58721	0.844;0.831	D	0.84484	0.0607	10	0.32370	T	0.25	.	7.9532	0.30027	0.1267:0.0:0.148:0.7253	.	769;769	P36888-2;P36888	.;FLT3_HUMAN	G	769	ENSP00000241453:E769G;ENSP00000370369:E769G;ENSP00000438139:E769G	ENSP00000241453:E769G	E	-	2	0	FLT3	27495599	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.317000	0.43770	2.131000	0.65755	0.533000	0.62120	GAA		0.363	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			
ZBTB37	84614	broad.mit.edu	37	1	173835706	173835706	+	5'Flank	SNP	C	C	A	rs112023202		TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr1:173835706C>A	ENST00000367701.5	+	0	0				GAS5_ENST00000364084.1_RNA|ZBTB37_ENST00000367704.1_5'Flank|GAS5_ENST00000363146.1_RNA|GAS5_ENST00000385578.2_RNA|ZBTB37_ENST00000432989.1_5'Flank|GAS5_ENST00000364822.2_RNA|GAS5_ENST00000363840.1_RNA|GAS5_ENST00000365524.1_RNA|GAS5-AS1_ENST00000602767.1_RNA|GAS5_ENST00000363859.1_RNA|ZBTB37_ENST00000367702.1_5'Flank|ZBTB37_ENST00000427304.1_5'Flank|SNORD78_ENST00000385582.1_RNA			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						TCTTTAGGACCTGGGAAGAAA	0.418																																																	0																																										SO:0001631	upstream_gene_variant	60674			AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274		1.37:g.173835706C>A	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_I	Q5TC80|Q96M87|Q9BQ88	Splice_Site	SNP	ENST00000367701.5	37	CCDS44278.1																																																																																				0.418	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090729.2		NM_032522	
GPR84	53831	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	54757575	54757575	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr12:54757575A>G	ENST00000551809.1	-	1	696	c.61T>C	c.(61-63)Tat>Cat	p.Y21H	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.Y21H			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.Y21H(1)		NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						ACTGCAACATAACGATAGCCC	0.582																																																	1	Substitution - Missense(1)	kidney(1)											114.0	86.0	96.0					12																	54757575		2203	4300	6503	SO:0001583	missense	53831			AF237762	CCDS8878.1	12q13.13	2012-08-20						"""GPCR / Class A : Fatty acid receptors"""	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.61T>C	12.37:g.54757575A>G	ENSP00000450310:p.Tyr21His	Somatic		WXS	Illumina HiSeq	Phase_I	B6V9G7	Missense_Mutation	SNP	ENST00000551809.1	37	CCDS8878.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.997936	0.74818	.	.	ENSG00000139572	ENST00000267015;ENST00000551809	T;T	0.37584	1.19;1.19	4.81	4.81	0.61882	.	0.000000	0.64402	D	0.000006	T	0.44993	0.1320	L	0.29908	0.895	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	T	0.21280	-1.0250	10	0.23302	T	0.38	-15.0808	12.9625	0.58466	1.0:0.0:0.0:0.0	.	21	Q9NQS5	GPR84_HUMAN	H	21	ENSP00000267015:Y21H;ENSP00000450310:Y21H	ENSP00000267015:Y21H	Y	-	1	0	GPR84	53043842	1.000000	0.71417	0.433000	0.26760	0.947000	0.59692	7.841000	0.86834	2.104000	0.64026	0.454000	0.30748	TAT		0.582	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406156.1			
GUCY2F	2986	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	108691325	108691325	+	Silent	SNP	C	C	T	rs367902822		TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chrX:108691325C>T	ENST00000218006.2	-	6	1833	c.1542G>A	c.(1540-1542)acG>acA	p.T514T		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	514					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)	p.T514T(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GATTGATAAACGTTACATCCT	0.408																																																	1	Substitution - coding silent(1)	kidney(1)						C		2,3833		0,1,1,1631,570	158.0	134.0	142.0		1542	-8.3	0.3	X		142	0,6728		0,0,0,2428,1872	no	coding-synonymous	GUCY2F	NM_001522.2		0,1,1,4059,2442	TT,TC,T,CC,C		0.0,0.0522,0.0189		514/1109	108691325	2,10561	2203	4300	6503	SO:0001819	synonymous_variant	2986			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.1542G>A	X.37:g.108691325C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q9UJF1	Silent	SNP	ENST00000218006.2	37	CCDS14545.1																																																																																				0.408	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1		NM_001522	
HSD17B1	3292	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	40706578	40706578	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr17:40706578A>G	ENST00000585807.1	+	5	4415	c.695A>G	c.(694-696)cAg>cGg	p.Q232R	RP11-400F19.6_ENST00000590513.1_RNA|HSD17B1_ENST00000225929.5_Missense_Mutation_p.Q233R|RP11-400F19.8_ENST00000585572.1_RNA	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	232					bone development (GO:0060348)|cellular response to metal ion (GO:0071248)|estrogen biosynthetic process (GO:0006703)|estrogen metabolic process (GO:0008210)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|estradiol 17-beta-dehydrogenase activity (GO:0004303)	p.Q232R(1)		NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Equilin(DB02187)	GAGGCGGCGCAGAACCCTGAG	0.692																																																	1	Substitution - Missense(1)	kidney(1)											48.0	37.0	41.0					17																	40706578		2203	4300	6503	SO:0001583	missense	3292				CCDS11428.1	17q11-q21	2011-09-14					1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5210	protein-coding gene	gene with protein product	"""Estradiol 17-beta-dehydrogenase-1"", ""short chain dehydrogenase/reductase family 28CE, member 1"""	109684		EDHB17, EDH17B2		2330005, 19027726	Standard	NM_000413		Approved	HSD17, MGC138140, SDR28C1	uc002hzw.3	P14061		ENST00000585807.1:c.695A>G	17.37:g.40706578A>G	ENSP00000466799:p.Gln232Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B3KXS1|Q2M2L8	Missense_Mutation	SNP	ENST00000585807.1	37	CCDS11428.1	.	.	.	.	.	.	.	.	.	.	A	18.76	3.691814	0.68271	.	.	ENSG00000108786	ENST00000225929	.	.	.	4.16	4.16	0.48862	NAD(P)-binding domain (1);	0.065573	0.64402	D	0.000007	T	0.64853	0.2636	M	0.74467	2.265	0.48511	D	0.999664	B;B	0.31548	0.125;0.328	B;B	0.42030	0.055;0.373	T	0.60777	-0.7196	9	0.22109	T	0.4	.	9.5087	0.39062	1.0:0.0:0.0:0.0	.	263;232	B3RFR9;P14061	.;DHB1_HUMAN	R	232	.	ENSP00000225929:Q232R	Q	+	2	0	HSD17B1	37960104	1.000000	0.71417	0.925000	0.36789	0.005000	0.04900	3.779000	0.55379	1.755000	0.51935	0.402000	0.26972	CAG		0.692	HSD17B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450392.1		NM_000413	
AREL1	9870	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	75136411	75136411	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr14:75136411T>G	ENST00000356357.4	-	15	2370	c.1855A>C	c.(1855-1857)Agt>Cgt	p.S619R	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	619	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.S619R(1)									TCCATCTCACTCATGTCATTG	0.398																																																	1	Substitution - Missense(1)	kidney(1)											176.0	156.0	162.0					14																	75136411		1839	4098	5937	SO:0001583	missense	9870			AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"""KIAA0317"""	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.1855A>C	14.37:g.75136411T>G	ENSP00000348714:p.Ser619Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	ENST00000356357.4	37	CCDS41971.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.121509	0.77436	.	.	ENSG00000119682	ENST00000356357;ENST00000543377;ENST00000556202	T;T	0.44881	0.91;0.91	5.41	5.41	0.78517	HECT (4);	0.037172	0.85682	D	0.000000	T	0.44435	0.1293	L	0.42744	1.35	0.58432	D	0.999996	P	0.38745	0.645	P	0.44422	0.449	T	0.35076	-0.9803	10	0.42905	T	0.14	.	15.7371	0.77853	0.0:0.0:0.0:1.0	.	619	O15033	K0317_HUMAN	R	619;458;458	ENSP00000348714:S619R;ENSP00000452101:S458R	ENSP00000348714:S619R	S	-	1	0	KIAA0317	74206164	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.099000	0.71466	2.177000	0.69029	0.460000	0.39030	AGT		0.398	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2		NM_014821	
LRP2	4036	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	170011038	170011038	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr2:170011038T>G	ENST00000263816.3	-	66	12512	c.12227A>C	c.(12226-12228)gAg>gCg	p.E4076A		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4076					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.E4076A(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TTGAAGATACTCTGAGAACCT	0.393																																																	1	Substitution - Missense(1)	kidney(1)											90.0	91.0	90.0					2																	170011038		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.12227A>C	2.37:g.170011038T>G	ENSP00000263816:p.Glu4076Ala	Somatic		WXS	Illumina HiSeq	Phase_I	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	14.57	2.573681	0.45902	.	.	ENSG00000081479	ENST00000263816	D	0.90844	-2.74	5.7	5.7	0.88788	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.146397	0.64402	D	0.000013	D	0.84593	0.5506	L	0.36672	1.1	0.80722	D	1	B	0.31910	0.346	B	0.27608	0.081	T	0.82106	-0.0621	10	0.11485	T	0.65	.	15.9763	0.80066	0.0:0.0:0.0:1.0	.	4076	P98164	LRP2_HUMAN	A	4076	ENSP00000263816:E4076A	ENSP00000263816:E4076A	E	-	2	0	LRP2	169719284	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.093000	0.71422	2.151000	0.67156	0.533000	0.62120	GAG		0.393	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2		NM_004525	
MIIP	60672	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	12081816	12081816	+	Silent	SNP	G	G	T			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr1:12081816G>T	ENST00000235332.4	+	2	202	c.33G>T	c.(31-33)cgG>cgT	p.R11R	MIIP_ENST00000436478.2_Silent_p.R11R|Y_RNA_ENST00000365591.1_RNA	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	11								p.R11R(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CACAGCTGCGGCTGCTCAATC	0.677																																																	1	Substitution - coding silent(1)	kidney(1)											31.0	29.0	30.0					1																	12081816		2200	4298	6498	SO:0001819	synonymous_variant	60672			AK022500	CCDS143.1	1p36.22	2009-07-09			ENSG00000116691	ENSG00000116691			25715	protein-coding gene	gene with protein product	"""invasion inhibitory protein 45"""	608772				15867349, 14617774	Standard	NM_021933		Approved	FLJ12438, IIp45	uc001ato.2	Q5JXC2	OTTHUMG00000002439	ENST00000235332.4:c.33G>T	1.37:g.12081816G>T		Somatic		WXS	Illumina HiSeq	Phase_I	C0KL22|Q96HU6|Q9H839|Q9HA00	Silent	SNP	ENST00000235332.4	37	CCDS143.1																																																																																				0.677	MIIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006941.1		NM_021933	
MTMR8	55613	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	63568632	63568632	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chrX:63568632T>A	ENST00000374852.3	-	6	707	c.640A>T	c.(640-642)Act>Tct	p.T214S	MTMR8_ENST00000453546.1_Missense_Mutation_p.T214S	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	214	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.T214S(2)|p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						ACACAGCGAGTGTAAAATCCA	0.433																																																	3	Substitution - Missense(2)|Whole gene deletion(1)	kidney(2)|ovary(1)											108.0	86.0	93.0					X																	63568632		2203	4300	6503	SO:0001583	missense	55613			AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.640A>T	X.37:g.63568632T>A	ENSP00000363985:p.Thr214Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	CCDS14379.1	.	.	.	.	.	.	.	.	.	.	T	3.935	-0.015389	0.07681	.	.	ENSG00000102043	ENST00000453546;ENST00000374852	D;D	0.88975	-2.45;-2.45	2.68	-0.216	0.13153	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.366986	0.18656	U	0.134876	T	0.65112	0.2660	N	0.01352	-0.895	0.21627	N	0.99962	B;B	0.15141	0.004;0.012	B;B	0.20577	0.004;0.03	T	0.58752	-0.7581	10	0.35671	T	0.21	.	2.9499	0.05858	0.2334:0.4357:0.0:0.3308	.	214;214	B4DQL0;Q96EF0	.;MTMR8_HUMAN	S	214	ENSP00000394003:T214S;ENSP00000363985:T214S	ENSP00000363985:T214S	T	-	1	0	MTMR8	63485357	0.920000	0.31207	0.080000	0.20451	0.981000	0.71138	1.593000	0.36686	0.158000	0.19367	0.412000	0.27726	ACT		0.433	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2		NM_017677	
NARS2	79731	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	78154737	78154737	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr11:78154737C>A	ENST00000281038.5	-	12	1607	c.1232G>T	c.(1231-1233)cGa>cTa	p.R411L	NARS2_ENST00000528850.1_Missense_Mutation_p.R184L|RP11-452H21.1_ENST00000534168.1_RNA	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	411					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)	p.R411L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	GAAATGGTATCGTTCTTCTCT	0.418																																																	1	Substitution - Missense(1)	kidney(1)											95.0	91.0	92.0					11																	78154737		2200	4292	6492	SO:0001583	missense	79731			BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	26274	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 2, mitochondrial (putative)"""	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.1232G>T	11.37:g.78154737C>A	ENSP00000281038:p.Arg411Leu	Somatic		WXS	Illumina HiSeq	Phase_I	G3V178	Missense_Mutation	SNP	ENST00000281038.5	37	CCDS8261.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352114	0.82132	.	.	ENSG00000137513	ENST00000281038;ENST00000528850	D;D	0.84944	-1.92;-1.92	4.96	4.96	0.65561	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.000000	0.85682	D	0.000000	D	0.94742	0.8303	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95830	0.8857	10	0.87932	D	0	-11.3694	18.7354	0.91751	0.0:1.0:0.0:0.0	.	411	Q96I59	SYNM_HUMAN	L	411;184	ENSP00000281038:R411L;ENSP00000432635:R184L	ENSP00000281038:R411L	R	-	2	0	NARS2	77832385	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.089000	0.71384	2.734000	0.93682	0.591000	0.81541	CGA		0.418	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391138.2		NM_024678	
NCOA6	23054	hgsc.bcm.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																																	15	Substitution - coding silent(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)											64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2		NM_014071	
ANKRD30BL	554226	broad.mit.edu	37	2	132905792	132905792	+	Missense_Mutation	SNP	G	G	C	rs189049364		TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr2:132905792G>C	ENST00000409867.1	-	6	938	c.689C>G	c.(688-690)tCt>tGt	p.S230C	ANKRD30BL_ENST00000470729.1_5'UTR			A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like	230								p.S230C(2)		endometrium(1)|kidney(3)	4						TGTTCCTTCAGATGTTCCTTC	0.443																																																	2	Substitution - Missense(2)	kidney(2)																																								SO:0001583	missense	0					2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000409867.1:c.689C>G	2.37:g.132905792G>C	ENSP00000386398:p.Ser230Cys	Somatic		WXS	Illumina GAIIx	Phase_I	B8ZZL7	RNA	SNP	ENST00000409867.1	37		.	.	.	.	.	.	.	.	.	.	.	8.999	0.979581	0.18812	.	.	ENSG00000163046	ENST00000409867	T	0.38560	1.13	0.109	0.109	0.14578	.	.	.	.	.	T	0.32793	0.0841	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28427	-1.0044	5	0.35671	T	0.21	.	.	.	.	.	.	.	.	C	230	ENSP00000386398:S230C	ENSP00000386398:S230C	S	-	2	0	ANKRD30BL	132622262	0.200000	0.23398	0.088000	0.20740	0.105000	0.19272	0.320000	0.19540	0.181000	0.19994	0.184000	0.17185	TCT		0.443	ANKRD30BL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331353.2		NR_027019	
NEB	4703	broad.mit.edu;hgsc.bcm.edu	37	2	152397301	152397301	+	Silent	SNP	T	T	C			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr2:152397301T>C	ENST00000172853.10	-	109	15741	c.15594A>G	c.(15592-15594)gaA>gaG	p.E5198E	NEB_ENST00000397345.3_Silent_p.E6899E|NEB_ENST00000427231.2_Silent_p.E6899E|NEB_ENST00000604864.1_Silent_p.E6899E|NEB_ENST00000409198.1_Silent_p.E5198E|NEB_ENST00000603639.1_Silent_p.E6899E			P20929	NEBU_HUMAN	nebulin	5198					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.E6899E(1)|p.E5198E(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGTGGCAAGTTCAACATACA	0.418																																																	2	Substitution - coding silent(2)	kidney(2)											141.0	136.0	138.0					2																	152397301		2037	4189	6226	SO:0001819	synonymous_variant	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.15594A>G	2.37:g.152397301T>C		Somatic		WXS	Illumina HiSeq	Phase_I	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37																																																																																					0.418	NEB-201	KNOWN	basic	protein_coding	protein_coding			NM_004543	
OR4C15	81309	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	55321820	55321820	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr11:55321820C>A	ENST00000314644.2	+	1	38	c.38C>A	c.(37-39)gCa>gAa	p.A13E		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A13E(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						AATAATTTTGCACTTGGATGT	0.318										HNSCC(20;0.049)																																							1	Substitution - Missense(1)	kidney(1)											121.0	120.0	120.0					11																	55321820		2201	4296	6497	SO:0001583	missense	81309			BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.38C>A	11.37:g.55321820C>A	ENSP00000324958:p.Ala13Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	C	4.779	0.144815	0.09134	.	.	ENSG00000181939	ENST00000314644	T	0.00005	9.78	3.15	-1.24	0.09435	.	.	.	.	.	T	0.00073	0.0002	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.02398	-1.1165	6	0.87932	D	0	.	0.6067	0.00753	0.1954:0.3717:0.1913:0.2416	.	.	.	.	E	13	ENSP00000324958:A13E	ENSP00000324958:A13E	A	+	2	0	OR4C15	55078396	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-2.795000	0.00764	-0.237000	0.09739	-0.532000	0.04303	GCA		0.318	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1		NM_001001920	
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52713608	52713614	+	Frame_Shift_Del	DEL	ATTGGAA	ATTGGAA	-	rs529388126		TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	ATTGGAA	ATTGGAA	ATTGGAA	-	ATTGGAA	ATTGGAA	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr3:52713608_52713614delATTGGAA	ENST00000296302.7	-	1	115_121	c.114_120delTTCCAAT	c.(112-120)ctttccaatfs	p.LSN38fs	PBRM1_ENST00000409767.1_Frame_Shift_Del_p.LSN38fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.LSN38fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.LSN38fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.LSN38fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.LSN38fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.LSN38fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.LSN38fs			Q86U86	PB1_HUMAN	polybromo 1	38					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CAGTTGGAAGATTGGAAAGTCTCCTCC	0.473			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	0																																										SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.114_120delTTCCAAT	3.37:g.52713608_52713614delATTGGAA	ENSP00000296302:p.Leu38fs	Somatic		WXS	Illumina HiSeq	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.473	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PCDH20	64881	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	61987113	61987113	+	Silent	SNP	C	C	A			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr13:61987113C>A	ENST00000409186.1	-	5	3224	c.1119G>T	c.(1117-1119)ctG>ctT	p.L373L	PCDH20_ENST00000409204.4_Silent_p.L373L			Q8N6Y1	PCD20_HUMAN	protocadherin 20	373	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.L346L(1)|p.L373L(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TGTTTTCATCCAGGTGAAATA	0.438																																																	2	Substitution - coding silent(2)	kidney(2)											101.0	100.0	100.0					13																	61987113		2203	4300	6503	SO:0001819	synonymous_variant	64881			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1119G>T	13.37:g.61987113C>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Silent	SNP	ENST00000409186.1	37	CCDS9442.2																																																																																				0.438	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2		NM_022843	
PHIP	55023	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	79650693	79650693	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr6:79650693T>G	ENST00000275034.4	-	40	5350	c.5183A>C	c.(5182-5184)gAt>gCt	p.D1728A	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1728					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.D1728A(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GACTAGGAGATCTGCATCTAA	0.373																																																	1	Substitution - Missense(1)	kidney(1)											240.0	231.0	234.0					6																	79650693		2203	4300	6503	SO:0001583	missense	55023			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.5183A>C	6.37:g.79650693T>G	ENSP00000275034:p.Asp1728Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	T	3.219	-0.159922	0.06502	.	.	ENSG00000146247	ENST00000275034	T	0.40756	1.02	6.07	4.91	0.64330	.	0.132696	0.52532	D	0.000073	T	0.12646	0.0307	N	0.19112	0.55	0.36677	D	0.878838	B;B	0.25667	0.131;0.131	B;B	0.25140	0.058;0.058	T	0.07347	-1.0777	9	.	.	.	-10.3095	11.4356	0.50066	0.0:0.0699:0.0:0.9301	.	1728;1728	A7J992;Q8WWQ0	.;PHIP_HUMAN	A	1728	ENSP00000275034:D1728A	.	D	-	2	0	PHIP	79707412	1.000000	0.71417	1.000000	0.80357	0.267000	0.26476	1.677000	0.37576	1.121000	0.41925	0.528000	0.53228	GAT		0.373	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			
PIGT	51604	broad.mit.edu;hgsc.bcm.edu	37	20	44049024	44049024	+	Silent	SNP	G	G	C			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr20:44049024G>C	ENST00000279036.6	+	7	902	c.822G>C	c.(820-822)ctG>ctC	p.L274L	PIGT_ENST00000543458.2_Silent_p.L218L|PIGT_ENST00000372689.5_Silent_p.L274L|PIGT_ENST00000279035.9_Silent_p.L172L|PIGT_ENST00000341555.5_Silent_p.L80L|PIGT_ENST00000535404.1_Silent_p.L119L|PIGT_ENST00000545755.1_Silent_p.L12L	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	274					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)	p.L274L(2)		breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				CCTGCCCCCTGGCTTCAGAGA	0.612																																																	2	Substitution - coding silent(2)	kidney(2)											46.0	47.0	47.0					20																	44049024		2203	4300	6503	SO:0001819	synonymous_variant	51604				CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"""Phosphatidylinositol glycan anchor biosynthesis"""	14938	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610272	"""phosphatidylinositol glycan, class T"""			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.822G>C	20.37:g.44049024G>C		Somatic		WXS	Illumina HiSeq	Phase_I	B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Silent	SNP	ENST00000279036.6	37	CCDS13353.1	.	.	.	.	.	.	.	.	.	.	G	8.070	0.770070	0.15983	.	.	ENSG00000124155	ENST00000432270	.	.	.	5.38	3.42	0.39159	.	.	.	.	.	T	0.62245	0.2412	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59053	-0.7526	4	.	.	.	-16.8154	11.8196	0.52230	0.0:0.1319:0.7308:0.1372	.	.	.	.	R	72	.	.	G	+	1	0	PIGT	43482438	1.000000	0.71417	0.826000	0.32828	0.796000	0.44982	2.639000	0.46570	0.820000	0.34516	0.655000	0.94253	GGC		0.612	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079434.2		NM_015937	
PITPNM1	9600	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	67266179	67266179	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr11:67266179A>G	ENST00000534749.1	-	9	1560	c.1372T>C	c.(1372-1374)Tcc>Ccc	p.S458P	PITPNM1_ENST00000436757.2_Missense_Mutation_p.S458P|PITPNM1_ENST00000356404.3_Missense_Mutation_p.S458P			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	458					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)	p.S458P(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						TCGAAGGCGGAGCTCAGCGTC	0.667																																					GBM(28;144 709 4607 5525)												1	Substitution - Missense(1)	kidney(1)											69.0	69.0	69.0					11																	67266179		2199	4295	6494	SO:0001583	missense	9600			X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.1372T>C	11.37:g.67266179A>G	ENSP00000437286:p.Ser458Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	ENST00000534749.1	37	CCDS31620.1	.	.	.	.	.	.	.	.	.	.	a	8.556	0.876708	0.17395	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404	T;T;T	0.20463	2.07;2.07;2.07	3.94	-1.16	0.09678	.	1.168980	0.06586	N	0.751113	T	0.16557	0.0398	L	0.39898	1.24	0.09310	N	1	B;B	0.22800	0.075;0.045	B;B	0.33121	0.158;0.058	T	0.43130	-0.9410	10	0.38643	T	0.18	-20.2384	0.2446	0.00197	0.3017:0.2843:0.1599:0.2541	.	458;458	O00562-2;O00562	.;PITM1_HUMAN	P	458	ENSP00000437286:S458P;ENSP00000398787:S458P;ENSP00000348772:S458P	ENSP00000348772:S458P	S	-	1	0	PITPNM1	67022755	0.000000	0.05858	0.231000	0.23993	0.399000	0.30720	-0.667000	0.05274	-0.273000	0.09246	0.449000	0.29647	TCC		0.667	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1		NM_004910	
POLD1	5424	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	50905132	50905132	+	Silent	SNP	C	C	T			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr19:50905132C>T	ENST00000440232.2	+	4	467	c.414C>T	c.(412-414)tgC>tgT	p.C138C	POLD1_ENST00000599857.1_Silent_p.C138C|POLD1_ENST00000595904.1_Silent_p.C138C	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	138					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.C138C(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		TCTCTGTCTGCTGCCACATCC	0.711								DNA polymerases (catalytic subunits)																																									2	Substitution - coding silent(2)	kidney(2)											61.0	63.0	63.0					19																	50905132		2203	4300	6503	SO:0001819	synonymous_variant	5424				CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.414C>T	19.37:g.50905132C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q8NER3|Q96H98	Silent	SNP	ENST00000440232.2	37	CCDS12795.1																																																																																				0.711	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			
POLR3G	10622	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	89781415	89781415	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr5:89781415G>A	ENST00000399107.1	+	2	231	c.31G>A	c.(31-33)Gct>Act	p.A11T	POLR3G_ENST00000504930.1_Missense_Mutation_p.A11T|POLR3G_ENST00000514483.1_Missense_Mutation_p.A11T	NM_006467.2	NP_006458.2	O15318	RPC7_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)	11					cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	DNA-directed RNA polymerase activity (GO:0003899)	p.A11T(1)		cervix(1)|endometrium(1)|kidney(2)|lung(4)|prostate(1)	9		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;2.74e-31)|Epithelial(54;8.2e-26)|all cancers(79;3.86e-22)		AGGACGTGCTGCTTATACCTT	0.398																																																	1	Substitution - Missense(1)	kidney(1)											133.0	121.0	125.0					5																	89781415		1875	4102	5977	SO:0001583	missense	10622			U93868	CCDS43337.1	5q14.3	2014-06-05			ENSG00000113356	ENSG00000113356		"""RNA polymerase subunits"""	30075	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006467		Approved	RPC32, RPC7	uc003kjq.3	O15318	OTTHUMG00000162809	ENST00000399107.1:c.31G>A	5.37:g.89781415G>A	ENSP00000382058:p.Ala11Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A8MTH0	Missense_Mutation	SNP	ENST00000399107.1	37	CCDS43337.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300560	0.81136	.	.	ENSG00000113356	ENST00000512239;ENST00000505345;ENST00000503373;ENST00000503973;ENST00000399107;ENST00000504930;ENST00000514483	.	.	.	5.41	4.49	0.54785	.	0.152828	0.56097	D	0.000031	T	0.54806	0.1881	L	0.28274	0.84	0.37906	D	0.931204	D	0.67145	0.996	P	0.61070	0.883	T	0.55289	-0.8164	9	0.33940	T	0.23	-26.9892	14.256	0.66053	0.0:0.0:0.7993:0.2006	.	11	O15318	RPC7_HUMAN	T	11	.	ENSP00000382058:A11T	A	+	1	0	POLR3G	89817171	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.664000	0.46783	2.697000	0.92050	0.563000	0.77884	GCT		0.398	POLR3G-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370462.1		NM_006467	
PXDN	7837	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	1653137	1653137	+	Silent	SNP	C	C	T			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr2:1653137C>T	ENST00000252804.4	-	17	2465	c.2415G>A	c.(2413-2415)acG>acA	p.T805T		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	805					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.T805T(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGACGGTCTCCGTCCCGATCA	0.652																																																	1	Substitution - coding silent(1)	kidney(1)											61.0	71.0	68.0					2																	1653137		2159	4259	6418	SO:0001819	synonymous_variant	7837			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2415G>A	2.37:g.1653137C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	CCDS46221.1																																																																																				0.652	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1		XM_056455	
RAB33A	9363	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	129306270	129306270	+	Silent	SNP	G	G	T			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chrX:129306270G>T	ENST00000257017.4	+	1	648	c.234G>T	c.(232-234)gtG>gtT	p.V78V		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	78					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.V78V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						AGAAGACCGTGGAAATCGAGG	0.622																																																	1	Substitution - coding silent(1)	kidney(1)											78.0	66.0	70.0					X																	129306270		2203	4300	6503	SO:0001819	synonymous_variant	9363			D14889	CCDS14621.1	Xq26	2008-02-05			ENSG00000134594	ENSG00000134594		"""RAB, member RAS oncogene"""	9773	protein-coding gene	gene with protein product		300333				7688322, 9512502	Standard	NM_004794		Approved	RabS10	uc004evl.3	Q14088	OTTHUMG00000022391	ENST00000257017.4:c.234G>T	X.37:g.129306270G>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q5JUZ6|Q92465	Silent	SNP	ENST00000257017.4	37	CCDS14621.1																																																																																				0.622	RAB33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058246.1		NM_004794	
RANBP6	26953	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	6014375	6014375	+	Silent	SNP	G	G	A	rs146563217	byFrequency	TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr9:6014375G>A	ENST00000259569.5	-	1	1243	c.1233C>T	c.(1231-1233)tcC>tcT	p.S411S	RANBP6_ENST00000485372.1_Intron	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	411					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S411S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		AAAGCAAAACGGAGTTAACTG	0.433													G|||	6	0.00119808	0.0	0.0	5008	,	,		22944	0.006		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	kidney(1)											70.0	71.0	71.0					9																	6014375		2203	4300	6503	SO:0001819	synonymous_variant	26953			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.1233C>T	9.37:g.6014375G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q5T7X4|Q7Z3V2|Q96E78	Silent	SNP	ENST00000259569.5	37	CCDS6467.1																																																																																				0.433	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1		NM_012416	
RBPJL	11317	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	43938268	43938268	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr20:43938268T>C	ENST00000343694.3	+	3	265	c.193T>C	c.(193-195)Tgt>Cgt	p.C65R	MATN4_ENST00000353917.5_5'Flank|MATN4_ENST00000537548.1_5'Flank|RBPJL_ENST00000372741.3_Missense_Mutation_p.C65R|MATN4_ENST00000372751.4_5'Flank|MATN4_ENST00000342716.4_5'Flank|RBPJL_ENST00000372743.1_Missense_Mutation_p.C65R|MATN4_ENST00000360607.6_5'Flank	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	65					positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C65R(1)		NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				GCAGCAACAGTGTGAACAGAC	0.617																																																	1	Substitution - Missense(1)	kidney(1)											113.0	91.0	99.0					20																	43938268		2203	4300	6503	SO:0001583	missense	11317			AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"""recombining binding protein suppressor of hairless (Drosophila)-like"""	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.193T>C	20.37:g.43938268T>C	ENSP00000341243:p.Cys65Arg	Somatic		WXS	Illumina HiSeq	Phase_I	O95723|Q5QPU9|Q5QPV0|Q9ULV9	Missense_Mutation	SNP	ENST00000343694.3	37	CCDS13349.1	.	.	.	.	.	.	.	.	.	.	T	11.95	1.792495	0.31685	.	.	ENSG00000124232	ENST00000372743;ENST00000372741;ENST00000343694	D;D;D	0.81908	-1.55;-1.55;-1.55	5.53	5.53	0.82687	LAG1, DNA binding (1);p53-like transcription factor, DNA-binding (1);	0.310219	0.29668	N	0.011517	T	0.67552	0.2905	N	0.14661	0.345	0.29457	N	0.858021	B;B	0.14805	0.011;0.006	B;B	0.06405	0.002;0.002	T	0.57289	-0.7837	10	0.16420	T	0.52	-15.4709	10.6879	0.45854	0.0:0.0:0.2693:0.7307	.	65;65	Q5QPV1;Q9UBG7	.;RBPJL_HUMAN	R	65	ENSP00000361828:C65R;ENSP00000361826:C65R;ENSP00000341243:C65R	ENSP00000341243:C65R	C	+	1	0	RBPJL	43371682	0.175000	0.23083	0.184000	0.23157	0.773000	0.43773	1.325000	0.33724	2.119000	0.64992	0.374000	0.22700	TGT		0.617	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1		NM_014276	
RGAG4	340526	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	71351148	71351148	+	Silent	SNP	C	C	A			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chrX:71351148C>A	ENST00000545866.1	-	1	610	c.243G>T	c.(241-243)ggG>ggT	p.G81G	NHSL2_ENST00000535692.1_5'Flank|NHSL2_ENST00000510661.1_5'Flank|NHSL2_ENST00000540800.1_Intron|NHSL2_ENST00000373677.1_5'Flank|RGAG4_ENST00000609883.1_Silent_p.G81G	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	81								p.G154G(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GCAGTTCTCCCCCGGGAATGA	0.597																																																	1	Substitution - coding silent(1)	kidney(1)											35.0	39.0	38.0					X																	71351148		1967	4133	6100	SO:0001819	synonymous_variant	340526			AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.243G>T	X.37:g.71351148C>A		Somatic		WXS	Illumina HiSeq	Phase_I	A7E2W7|Q8NCM4|Q9NPX1	Silent	SNP	ENST00000545866.1	37	CCDS55446.1																																																																																				0.597	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1		NM_001024455	
RPE	6120	hgsc.bcm.edu	37	2	210874384	210874384	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr2:210874384delT	ENST00000359429.6	+	2	223	c.126delT	c.(124-126)catfs	p.H42fs	RPE_ENST00000354506.6_Intron|RPE_ENST00000429921.1_Intron|RPE_ENST00000445268.1_Intron|RPE_ENST00000429907.1_5'UTR|RPE_ENST00000454822.1_Intron|RPE_ENST00000438204.2_Intron|RPE_ENST00000436630.2_5'UTR|RPE_ENST00000540255.1_Frame_Shift_Del_p.H42fs|RPE_ENST00000435437.2_Frame_Shift_Del_p.H42fs|RPE_ENST00000452025.1_Frame_Shift_Del_p.H42fs|RPE_ENST00000411934.2_Intron	NM_199229.1	NP_954699.1	Q96AT9	RPE_HUMAN	ribulose-5-phosphate-3-epimerase	42					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|ribulose-phosphate 3-epimerase activity (GO:0004750)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	9				Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)		CTTGTAGGCATTTTGTTCCCA	0.433																																																	0													273.0	283.0	280.0					2																	210874384		2203	4300	6503	SO:0001589	frameshift_variant	6120				CCDS2388.1, CCDS42810.1, CCDS63107.1, CCDS63108.1	2q32-q33.3	2012-10-02			ENSG00000197713	ENSG00000197713	5.1.3.1		10293	protein-coding gene	gene with protein product		180480					Standard	NM_199229		Approved		uc002vdn.4	Q96AT9	OTTHUMG00000154690	ENST00000359429.6:c.126delT	2.37:g.210874384delT	ENSP00000352401:p.His42fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K4S0|B4E016|C9JPQ7|O43767|Q53TV9|Q8N215|Q96N34|Q9BSB5	Frame_Shift_Del	DEL	ENST00000359429.6	37	CCDS2388.1																																																																																				0.433	RPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336574.2		NM_006916	
SDCCAG8	10806	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	243581274	243581274	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr1:243581274T>A	ENST00000366541.3	+	15	1867	c.1749T>A	c.(1747-1749)aaT>aaA	p.N583K	SDCCAG8_ENST00000355875.4_Missense_Mutation_p.N540K|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.N438K	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	583	Gln-rich.|Mediates interaction with OFD1.|Sufficient for homodimerization. {ECO:0000250}.				establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)		p.N583K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TTCTAGAAAATGAACAGTATT	0.373																																																	1	Substitution - Missense(1)	kidney(1)											99.0	100.0	100.0					1																	243581274		2203	4300	6503	SO:0001583	missense	10806			AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.1749T>A	1.37:g.243581274T>A	ENSP00000355499:p.Asn583Lys	Somatic		WXS	Illumina HiSeq	Phase_I	O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Missense_Mutation	SNP	ENST00000366541.3	37	CCDS31075.1	.	.	.	.	.	.	.	.	.	.	T	15.52	2.857533	0.51376	.	.	ENSG00000054282	ENST00000355875;ENST00000366541;ENST00000343783	T;T;T	0.45276	0.97;0.9;0.95	6.01	4.86	0.63082	.	0.382752	0.28499	N	0.015121	T	0.22551	0.0544	N	0.19112	0.55	0.35497	D	0.799445	B	0.17667	0.023	B	0.21917	0.037	T	0.18304	-1.0341	10	0.11182	T	0.66	-2.9368	4.0585	0.09827	0.1278:0.0673:0.1339:0.6711	.	583	Q86SQ7	SDCG8_HUMAN	K	540;583;438	ENSP00000348137:N540K;ENSP00000355499:N583K;ENSP00000341260:N438K	ENSP00000341260:N438K	N	+	3	2	SDCCAG8	241647897	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.649000	0.37281	1.064000	0.40671	0.528000	0.53228	AAT		0.373	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1		NM_006642	
SIRT6	51548	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	4180866	4180866	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr19:4180866T>A	ENST00000337491.2	-	2	171	c.107A>T	c.(106-108)gAa>gTa	p.E36V	ANKRD24_ENST00000600132.1_5'Flank|SIRT6_ENST00000381935.3_Intron|SIRT6_ENST00000601488.1_Missense_Mutation_p.E36V|SIRT6_ENST00000594279.1_5'UTR|SIRT6_ENST00000305232.6_Missense_Mutation_p.E36V	NM_016539.2	NP_057623.2	Q8N6T7	SIR6_HUMAN	sirtuin 6	36	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|protein ADP-ribosylation (GO:0006471)|regulation of double-strand break repair via homologous recombination (GO:0010569)	nuclear telomeric heterochromatin (GO:0005724)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|zinc ion binding (GO:0008270)	p.E36V(1)		central_nervous_system(1)|kidney(1)|lung(4)|ovary(1)|skin(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCGCCAGTTCCCACACCTT	0.627																																																	1	Substitution - Missense(1)	kidney(1)											40.0	33.0	35.0					19																	4180866		2200	4295	6495	SO:0001583	missense	51548			AF233396	CCDS12122.1, CCDS54199.1	19p13.3	2010-06-25	2010-06-25			ENSG00000077463			14934	protein-coding gene	gene with protein product		606211	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 6"", ""sirtuin (silent mating type information regulation 2 homolog) 6 (S. cerevisiae)"""			10873683	Standard	NM_016539		Approved		uc002lzo.3	Q8N6T7		ENST00000337491.2:c.107A>T	19.37:g.4180866T>A	ENSP00000337332:p.Glu36Val	Somatic		WXS	Illumina HiSeq	Phase_I	B2RCD0|O75291|Q6IAF5|Q6PK99|Q8NCD2|Q9BSI5|Q9BWP3|Q9NRC7|Q9UQD1	Missense_Mutation	SNP	ENST00000337491.2	37	CCDS12122.1	.	.	.	.	.	.	.	.	.	.	T	14.14	2.446361	0.43429	.	.	ENSG00000077463	ENST00000337491;ENST00000305232	T;T	0.17528	2.27;2.27	4.95	3.91	0.45181	.	0.217511	0.41097	D	0.000955	T	0.15478	0.0373	L	0.52126	1.63	0.80722	D	1	B;B;B	0.30634	0.001;0.288;0.002	B;B;B	0.23419	0.002;0.046;0.001	T	0.02909	-1.1095	10	0.46703	T	0.11	-26.5988	10.6574	0.45684	0.0:0.0:0.1728:0.8272	.	36;36;36	Q8N6T7-2;E9PCE1;Q8N6T7	.;.;SIRT6_HUMAN	V	36	ENSP00000337332:E36V;ENSP00000305310:E36V	ENSP00000305310:E36V	E	-	2	0	SIRT6	4131866	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	2.232000	0.43018	0.732000	0.32470	0.379000	0.24179	GAA		0.627	SIRT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457931.2			
SLC36A1	206358	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	150853235	150853235	+	Splice_Site	SNP	G	G	C			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr5:150853235G>C	ENST00000243389.3	+	8	948	c.725G>C	c.(724-726)aGg>aCg	p.R242T	SLC36A1_ENST00000521925.1_Splice_Site_p.R242T|SLC36A1_ENST00000520701.1_Splice_Site_p.R242T	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	242					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen ion transmembrane transporter activity (GO:0015078)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)|symporter activity (GO:0015293)	p.R242T(1)		endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Acamprosate(DB00659)|Glycine(DB00145)|Hydroxyproline(DB08847)|L-Alanine(DB00160)|Spaglumic Acid(DB08835)|Vigabatrin(DB01080)	GTCTTTCAGAGGATCCCAGAC	0.438																																					Melanoma(151;1534 1860 12947 32979 37872)												1	Substitution - Missense(1)	kidney(1)											170.0	186.0	181.0					5																	150853235		2203	4300	6503	SO:0001630	splice_region_variant	206358			AK057340	CCDS4316.1	5q33.1	2013-05-22			ENSG00000123643	ENSG00000123643		"""Solute carriers"""	18761	protein-coding gene	gene with protein product		606561				11959859, 11390972	Standard	NM_078483		Approved	LYAAT-1, PAT1, TRAMD3	uc003luc.3	Q7Z2H8	OTTHUMG00000130125	ENST00000243389.3:c.724-1G>C	5.37:g.150853235G>C		Somatic		WXS	Illumina HiSeq	Phase_I	C9JI34|Q1LZ56|Q7Z7C0|Q86YK4|Q96M74	Missense_Mutation	SNP	ENST00000243389.3	37	CCDS4316.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.858744	0.32884	.	.	ENSG00000123643	ENST00000520701;ENST00000243389;ENST00000456739;ENST00000521925;ENST00000517628	T;T;T;T	0.29917	4.36;4.36;4.36;1.55	5.34	-0.0178	0.13967	.	1.449150	0.03667	N	0.243407	T	0.15869	0.0382	N	0.03000	-0.44	0.09310	N	1	B;B	0.12630	0.0;0.006	B;B	0.25759	0.007;0.063	T	0.29852	-0.9998	10	0.51188	T	0.08	.	6.4465	0.21879	0.5372:0.1315:0.3312:0.0	.	242;242	E7EW39;Q7Z2H8	.;S36A1_HUMAN	T	242;242;242;242;1	ENSP00000428140:R242T;ENSP00000243389:R242T;ENSP00000430305:R242T;ENSP00000428738:R1T	ENSP00000243389:R242T	R	+	2	0	SLC36A1	150833428	0.893000	0.30496	0.078000	0.20375	0.938000	0.57974	1.696000	0.37773	-0.348000	0.08286	0.655000	0.94253	AGG		0.438	SLC36A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252433.1		NM_078483	Missense_Mutation
SLC7A13	157724	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	87229763	87229763	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr8:87229763A>G	ENST00000297524.3	-	3	1218	c.1115T>C	c.(1114-1116)aTa>aCa	p.I372T	SLC7A13_ENST00000520624.1_5'Flank|SLC7A13_ENST00000419776.2_Missense_Mutation_p.I363T	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	372						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)	p.I372T(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						CATTAATAATATAGACCATAA	0.323																																																	1	Substitution - Missense(1)	kidney(1)											31.0	37.0	35.0					8																	87229763		2193	4292	6485	SO:0001583	missense	157724			AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"""Solute carriers"""	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.1115T>C	8.37:g.87229763A>G	ENSP00000297524:p.Ile372Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q05C37|Q08AH9|Q96N84	Missense_Mutation	SNP	ENST00000297524.3	37	CCDS34917.1	.	.	.	.	.	.	.	.	.	.	A	10.53	1.377032	0.24857	.	.	ENSG00000164893	ENST00000297524;ENST00000419776	D;D	0.90563	-2.69;-2.69	5.03	-6.7	0.01766	.	1.867780	0.03199	N	0.174539	T	0.74504	0.3725	N	0.01874	-0.695	0.09310	N	1	B;B	0.17038	0.01;0.02	B;B	0.12156	0.005;0.007	T	0.66272	-0.5965	10	0.62326	D	0.03	.	7.7772	0.29043	0.238:0.4415:0.3205:0.0	.	363;372	Q8TCU3-2;Q8TCU3	.;S7A13_HUMAN	T	372;363	ENSP00000297524:I372T;ENSP00000410982:I363T	ENSP00000297524:I372T	I	-	2	0	SLC7A13	87298879	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.570000	0.05895	-0.866000	0.04068	0.528000	0.53228	ATA		0.323	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1		NM_138817	
SPAM1	6677	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	123595133	123595133	+	Missense_Mutation	SNP	G	G	A	rs267601263	byFrequency	TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr7:123595133G>A	ENST00000439500.1	+	5	1650	c.1037G>A	c.(1036-1038)cGa>cAa	p.R346Q	SPAM1_ENST00000460182.1_Missense_Mutation_p.R346Q|SPAM1_ENST00000402183.2_Missense_Mutation_p.R346Q|SPAM1_ENST00000223028.7_Missense_Mutation_p.R346Q|SPAM1_ENST00000340011.5_Missense_Mutation_p.R346Q	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	346					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)	p.R346Q(2)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGTATAATGCGAAGTATGGTA	0.338													G|||	3	0.000599042	0.0	0.0	5008	,	,		17337	0.0		0.0	False		,,,				2504	0.0031																2	Substitution - Missense(2)	kidney(2)											180.0	178.0	179.0					7																	123595133		2203	4300	6503	SO:0001583	missense	6677			L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.1037G>A	7.37:g.123595133G>A	ENSP00000402123:p.Arg346Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	G	3.242	-0.155130	0.06544	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	6.02	-5.2	0.02823	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	1.225540	0.05401	N	0.540781	T	0.06917	0.0176	N	0.05574	-0.02	0.09310	N	1	B;B	0.25441	0.126;0.126	B;B	0.19148	0.024;0.024	T	0.30679	-0.9970	10	0.02654	T	1	0.1267	4.9752	0.14136	0.5751:0.0883:0.2412:0.0954	.	346;346	Q8TC30;P38567	.;HYALP_HUMAN	Q	346	ENSP00000386028:R346Q;ENSP00000417934:R346Q;ENSP00000345849:R346Q;ENSP00000402123:R346Q;ENSP00000223028:R346Q	ENSP00000223028:R346Q	R	+	2	0	SPAM1	123382369	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.544000	0.02192	-1.001000	0.03434	-0.145000	0.13849	CGA		0.338	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			
SRCAP	10847	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	30740445	30740445	+	Silent	SNP	T	T	C			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr16:30740445T>C	ENST00000262518.4	+	26	6202	c.5817T>C	c.(5815-5817)cgT>cgC	p.R1939R	SRCAP_ENST00000344771.4_Silent_p.R1781R|SRCAP_ENST00000395059.2_Silent_p.R1877R	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1939					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.R1939R(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCGGCCCTCGTTCTCCTGGCC	0.592																																																	1	Substitution - coding silent(1)	kidney(1)											54.0	56.0	55.0					16																	30740445		2197	4300	6497	SO:0001819	synonymous_variant	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.5817T>C	16.37:g.30740445T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	CCDS10689.2																																																																																				0.592	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1		NM_006662	
SSFA2	6744	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	182757372	182757372	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr2:182757372G>A	ENST00000431877.2	+	2	421	c.242G>A	c.(241-243)tGg>tAg	p.W81*	RP11-366L5.1_ENST00000567327.1_RNA|SSFA2_ENST00000409001.1_Nonsense_Mutation_p.W81*|SSFA2_ENST00000320370.7_Nonsense_Mutation_p.W81*|SSFA2_ENST00000428267.2_5'UTR	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	81						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.W81*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			ATCGCGATATGGCTCAAGGAC	0.682																																																	1	Substitution - Nonsense(1)	kidney(1)											116.0	95.0	102.0					2																	182757372		2203	4300	6503	SO:0001587	stop_gained	6744			M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.242G>A	2.37:g.182757372G>A	ENSP00000388731:p.Trp81*	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Nonsense_Mutation	SNP	ENST00000431877.2	37	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	G	39	7.469860	0.98302	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001	.	.	.	5.17	5.17	0.71159	.	0.065780	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.6292	15.3911	0.74744	0.0:0.0:1.0:0.0	.	.	.	.	X	81	.	ENSP00000314669:W81X	W	+	2	0	SSFA2	182465617	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.752000	0.68728	2.410000	0.81850	0.655000	0.94253	TGG		0.682	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2		NM_006751	
PHLDB1	23187	hgsc.bcm.edu	37	11	118529044	118529045	+	IGR	INS	-	-	G	rs11448549|rs35912300|rs72525549|rs72488014		TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr11:118529044_118529045insG	ENST00000361417.2	+	0	5753				TREH_ENST00000264029.4_Splice_Site|TREH_ENST00000525958.1_Frame_Shift_Ins_p.G538fs|TREH_ENST00000397925.1_Splice_Site|TREH_ENST00000530256.1_Frame_Shift_Ins_p.G446fs|TREH_ENST00000529101.1_Frame_Shift_Ins_p.G569fs	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1											breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GAAGGGTGGCCCCAGGCAGTGG	0.639													G|-|G|deletion	5007	0.9998	0.9992	1.0	5008	,	,		17558	1.0		1.0	False		,,,				2504	1.0																0																																										SO:0001628	intergenic_variant	11181				CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341		11.37:g.118529044_118529045insG		Somatic		WXS	Illumina HiSeq	Phase_I	B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Frame_Shift_Ins	INS	ENST00000361417.2	37	CCDS8401.1																																																																																				0.639	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1		NM_015157	
TTN	7273	broad.mit.edu;ucsc.edu	37	2	179479674	179479674	+	Silent	SNP	C	C	T			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr2:179479674C>T	ENST00000591111.1	-	210	43961	c.43737G>A	c.(43735-43737)gaG>gaA	p.E14579E	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.E7347E|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.E16220E|TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.E13652E|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.E7280E|TTN_ENST00000460472.2_Silent_p.E7155E|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14579	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E13652E(2)|p.E7280E(1)|p.E7155E(1)|p.E7347E(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTGccttcctcaagacctg	0.443																																																	5	Substitution - coding silent(5)	kidney(5)											103.0	93.0	96.0					2																	179479674		1930	4144	6074	SO:0001819	synonymous_variant	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.43737G>A	2.37:g.179479674C>T		Somatic		WXS	Illumina GAIIx	Phase_I	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	Silent	SNP	ENST00000591111.1	37																																																																																					0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
TULP1	7287	broad.mit.edu;hgsc.bcm.edu	37	6	35479476	35479476	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr6:35479476G>T	ENST00000229771.6	-	4	377	c.298C>A	c.(298-300)Cgc>Agc	p.R100S	TULP1_ENST00000322263.4_Intron	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	100					dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.R100S(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						CGGGGGTCGCGCTTCTTGGCC	0.726																																					GBM(55;1027 1091 11115 23439)												1	Substitution - Missense(1)	kidney(1)											11.0	13.0	12.0					6																	35479476		2192	4292	6484	SO:0001583	missense	7287			U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.298C>A	6.37:g.35479476G>T	ENSP00000229771:p.Arg100Ser	Somatic		WXS	Illumina HiSeq	Phase_I	O43536|Q5TGM5|Q8N571	Missense_Mutation	SNP	ENST00000229771.6	37	CCDS4807.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.014922	0.35511	.	.	ENSG00000112041	ENST00000229771	T	0.80738	-1.41	4.36	4.36	0.52297	.	0.680225	0.12099	N	0.499677	T	0.57636	0.2067	L	0.47716	1.5	0.32910	D	0.514429	P	0.37276	0.589	B	0.32090	0.14	T	0.49194	-0.8965	10	0.15499	T	0.54	-9.9113	12.2508	0.54597	0.0:0.0:1.0:0.0	.	100	O00294	TULP1_HUMAN	S	100	ENSP00000229771:R100S	ENSP00000229771:R100S	R	-	1	0	TULP1	35587454	1.000000	0.71417	1.000000	0.80357	0.253000	0.25986	2.103000	0.41806	2.233000	0.73108	0.491000	0.48974	CGC		0.726	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2			
UBXN10	127733	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	20517187	20517187	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr1:20517187C>T	ENST00000375099.3	+	2	217	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	45								p.R45W(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						CGCCAAGGGACGGACAAGACC	0.537																																																	1	Substitution - Missense(1)	kidney(1)											98.0	85.0	89.0					1																	20517187		2203	4300	6503	SO:0001583	missense	127733			AK058158	CCDS205.1	1p36.13	2008-07-25	2008-07-25	2008-07-25	ENSG00000162543	ENSG00000162543		"""UBX domain containing"""	26354	protein-coding gene	gene with protein product			"""UBX domain containing 3"""	UBXD3		12477932	Standard	NM_152376		Approved	FLJ25429	uc001bdb.3	Q96LJ8	OTTHUMG00000002708	ENST00000375099.3:c.133C>T	1.37:g.20517187C>T	ENSP00000364240:p.Arg45Trp	Somatic		WXS	Illumina HiSeq	Phase_I	Q5R386	Missense_Mutation	SNP	ENST00000375099.3	37	CCDS205.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.913432	0.72983	.	.	ENSG00000162543	ENST00000375099	.	.	.	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000015	T	0.78910	0.4358	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81335	-0.0979	9	0.87932	D	0	-18.0001	17.361	0.87350	0.0:1.0:0.0:0.0	.	45	Q96LJ8	UBX10_HUMAN	W	45	.	ENSP00000364240:R45W	R	+	1	2	UBXN10	20389774	1.000000	0.71417	0.879000	0.34478	0.443000	0.32047	5.162000	0.64942	2.444000	0.82710	0.655000	0.94253	CGG		0.537	UBXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007693.1		NM_152376	
UPK3A	7380	broad.mit.edu	37	22	45683306	45683306	+	Silent	SNP	A	A	C	rs559806046	byFrequency	TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr22:45683306A>C	ENST00000216211.4	+	3	494	c.462A>C	c.(460-462)gcA>gcC	p.A154A	UPK3A_ENST00000396082.2_Intron	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	154			A -> P (in dbSNP:rs1057353). {ECO:0000269|PubMed:9818021}.		cell morphogenesis (GO:0000902)|epithelial cell differentiation (GO:0030855)|kidney development (GO:0001822)|potassium ion homeostasis (GO:0055075)|sodium ion homeostasis (GO:0055078)|urea transport (GO:0015840)|urinary bladder development (GO:0060157)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.A154A(1)		kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TCTGTAACGCACCCCTGTCGG	0.602													A|||	27	0.00539137	0.0023	0.0043	5008	,	,		15928	0.0169		0.004	False		,,,				2504	0.0																1	Substitution - coding silent(1)	kidney(1)											21.0	16.0	18.0					22																	45683306		2132	4127	6259	SO:0001819	synonymous_variant	7380			AB010637	CCDS14064.1, CCDS54539.1	22q13.31	2005-11-14	2003-07-29	2003-07-30	ENSG00000100373	ENSG00000100373			12580	protein-coding gene	gene with protein product		611559	"""uroplakin 3"""	UPK3		9818021	Standard	NM_006953		Approved		uc003bfy.3	O75631	OTTHUMG00000151339	ENST00000216211.4:c.462A>C	22.37:g.45683306A>C		Somatic		WXS	Illumina GAIIx	Phase_I	B0QY25|O60261|Q32N05|Q5TII6	Silent	SNP	ENST00000216211.4	37	CCDS14064.1																																																																																				0.602	UPK3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000322276.1		NM_006953	
YTHDC1	91746	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	69188621	69188621	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr4:69188621C>A	ENST00000344157.4	-	11	1782	c.1447G>T	c.(1447-1449)Gaa>Taa	p.E483*	YTHDC1_ENST00000579690.1_Nonsense_Mutation_p.E483*|YTHDC1_ENST00000355665.3_Nonsense_Mutation_p.E465*	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	483	YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E483*(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						GTTCCACATTCAAGTTCAATT	0.373																																																	1	Substitution - Nonsense(1)	kidney(1)											72.0	76.0	74.0					4																	69188621		2203	4300	6503	SO:0001587	stop_gained	91746			AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.1447G>T	4.37:g.69188621C>A	ENSP00000339245:p.Glu483*	Somatic		WXS	Illumina HiSeq	Phase_I	Q4W5Q3|Q7Z622|Q8TF35	Nonsense_Mutation	SNP	ENST00000344157.4	37	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	C	39	7.300097	0.98196	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	.	.	.	6.06	6.06	0.98353	.	0.090653	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	.	.	.	X	483;465	.	ENSP00000339245:E483X	E	-	1	0	YTHDC1	68871216	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.431000	0.66507	2.880000	0.98712	0.650000	0.86243	GAA		0.373	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1		NM_133370	
ZCCHC14	23174	hgsc.bcm.edu;ucsc.edu	37	16	87446254	87446254	+	Frame_Shift_Del	DEL	G	G	-	rs200914568		TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr16:87446254delG	ENST00000268616.4	-	12	1879	c.1662delC	c.(1660-1662)agcfs	p.S554fs		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	554							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CGCTGCCAAAGCTCTTGTCCA	0.557																																																	0													96.0	100.0	98.0					16																	87446254		2198	4300	6498	SO:0001589	frameshift_variant	23174			AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.1662delC	16.37:g.87446254delG	ENSP00000268616:p.Ser554fs	Somatic		WXS	Illumina HiSeq	Phase_I	D3DUN1|O60324|Q3MJD8|Q9UFP0	Frame_Shift_Del	DEL	ENST00000268616.4	37	CCDS10961.1																																																																																				0.557	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1		NM_015144	
ZNF358	140467	broad.mit.edu;hgsc.bcm.edu	37	19	7584511	7584511	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr19:7584511C>T	ENST00000597229.1	+	2	553	c.383C>T	c.(382-384)aCt>aTt	p.T128I	CTD-2207O23.11_ENST00000602083.1_RNA|ZNF358_ENST00000394341.2_Missense_Mutation_p.T128I	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	128					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T128I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						TCTGGCCTCACTGCCACCCCC	0.692																																																	1	Substitution - Missense(1)	kidney(1)											50.0	42.0	45.0					19																	7584511		2203	4300	6503	SO:0001583	missense	140467			AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"""Zinc fingers, C2H2-type"""	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.383C>T	19.37:g.7584511C>T	ENSP00000472305:p.Thr128Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q9BTM7	Missense_Mutation	SNP	ENST00000597229.1	37	CCDS32890.2	.	.	.	.	.	.	.	.	.	.	C	7.673	0.687296	0.14973	.	.	ENSG00000198816	ENST00000361576;ENST00000394341	T	0.07800	3.16	3.53	2.46	0.29980	.	.	.	.	.	T	0.05960	0.0155	N	0.24115	0.695	0.09310	N	1	B	0.23650	0.089	B	0.23574	0.047	T	0.35051	-0.9804	9	0.44086	T	0.13	-0.0993	6.2759	0.20981	0.214:0.5781:0.2078:0.0	.	128	Q9NW07	ZN358_HUMAN	I	128	ENSP00000377873:T128I	ENSP00000354703:T128I	T	+	2	0	ZNF358	7490511	0.006000	0.16342	0.099000	0.21106	0.470000	0.32858	2.004000	0.40854	1.021000	0.39600	0.462000	0.41574	ACT		0.692	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316747.1			
ZNF396	252884	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	32948335	32948335	+	IGR	SNP	A	A	C			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr18:32948335A>C	ENST00000589332.1	-	0	1884				ZNF396_ENST00000306346.1_Missense_Mutation_p.S328A			Q96N95	ZN396_HUMAN	zinc finger protein 396						transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S328A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						CCTGAAAGTGACCTGGGGCAC	0.373																																																	1	Substitution - Missense(1)	kidney(1)											87.0	83.0	84.0					18																	32948335		2203	4300	6503	SO:0001628	intergenic_variant	252884			AK055775	CCDS11913.1	18p12	2013-01-09			ENSG00000186496	ENSG00000186496		"""-"", ""Zinc fingers, C2H2-type"""	18824	protein-coding gene	gene with protein product		609600					Standard	NM_145756		Approved	ZSCAN14, FLJ31213	uc010xcf.1	Q96N95	OTTHUMG00000132562		18.37:g.32948335A>C		Somatic		WXS	Illumina HiSeq	Phase_I	A1L3V0|Q8NF98|Q8TD80	Missense_Mutation	SNP	ENST00000589332.1	37		.	.	.	.	.	.	.	.	.	.	A	5.933	0.356125	0.11239	.	.	ENSG00000186496	ENST00000306346	T	0.07216	3.21	3.4	3.4	0.38934	.	.	.	.	.	T	0.14830	0.0358	.	.	.	0.23889	N	0.996559	D	0.53151	0.958	P	0.51833	0.681	T	0.06844	-1.0804	8	0.87932	D	0	.	8.5207	0.33273	1.0:0.0:0.0:0.0	.	328	Q96N95-3	.	A	328	ENSP00000302310:S328A	ENSP00000302310:S328A	S	-	1	0	ZNF396	31202333	0.040000	0.19996	0.011000	0.14972	0.002000	0.02628	1.786000	0.38694	1.781000	0.52344	0.402000	0.26972	TCA		0.373	ZNF396-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255766.1		NM_145756	
ZNF627	199692	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	11725352	11725352	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr19:11725352C>T	ENST00000361113.5	+	2	222	c.14C>T	c.(13-15)gCc>gTc	p.A5V	ZNF627_ENST00000588174.1_Missense_Mutation_p.A5V	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	5	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A5V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						GATTCAGTGGCCTTTGAGGAT	0.522																																					Melanoma(112;173 1614 10731 17751 23322)												1	Substitution - Missense(1)	kidney(1)											89.0	93.0	92.0					19																	11725352		2203	4297	6500	SO:0001583	missense	199692			AK074846	CCDS42502.1	19p13.2	2013-01-08				ENSG00000198551		"""Zinc fingers, C2H2-type"", ""-"""	30570	protein-coding gene	gene with protein product		612248				12477932	Standard	NM_145295		Approved	FLJ90365	uc002msk.2	Q7L945		ENST00000361113.5:c.14C>T	19.37:g.11725352C>T	ENSP00000354414:p.Ala5Val	Somatic		WXS	Illumina HiSeq	Phase_I	O14846|Q4KMP9|Q6NT81|Q9BRG4	Missense_Mutation	SNP	ENST00000361113.5	37	CCDS42502.1	.	.	.	.	.	.	.	.	.	.	c	12.46	1.945555	0.34377	.	.	ENSG00000198551	ENST00000361113	T	0.01787	4.64	1.29	0.234	0.15390	Krueppel-associated box (4);	.	.	.	.	T	0.01870	0.0059	L	0.42487	1.325	0.09310	N	1	B	0.26577	0.153	B	0.28849	0.095	T	0.46303	-0.9201	9	0.42905	T	0.14	.	2.7087	0.05168	0.0:0.477:0.3104:0.2126	.	5	Q7L945	ZN627_HUMAN	V	5	ENSP00000354414:A5V	ENSP00000354414:A5V	A	+	2	0	ZNF627	11586352	0.007000	0.16637	0.014000	0.15608	0.454000	0.32378	0.795000	0.26972	0.135000	0.18707	-0.262000	0.10625	GCC		0.522	ZNF627-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458875.1		NM_145295	
ZNF527	84503	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	37879644	37879644	+	Silent	SNP	G	G	A	rs73930983	byFrequency	TCGA-CJ-4905-01A-02D-1429-08	TCGA-CJ-4905-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22eb9dc5-8d5e-4158-8edc-12ff62a612be	11fa27c3-4ea9-403e-8ae0-a1f64f314b18	g.chr19:37879644G>A	ENST00000436120.2	+	5	800	c.693G>A	c.(691-693)acG>acA	p.T231T	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	231					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T231T(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACCAGAGTACGTACCTTAGTA	0.348													G|||	3	0.000599042	0.0023	0.0	5008	,	,		19542	0.0		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	kidney(1)						G		3,3629		0,3,1813	67.0	64.0	65.0		693	-0.8	0.0	19	dbSNP_130	65	0,8142		0,0,4071	no	coding-synonymous	ZNF527	NM_032453.1		0,3,5884	AA,AG,GG		0.0,0.0826,0.0255		231/610	37879644	3,11771	1816	4071	5887	SO:0001819	synonymous_variant	84503			AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"""Zinc fingers, C2H2-type"", ""-"""	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.693G>A	19.37:g.37879644G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4DVL5	Silent	SNP	ENST00000436120.2	37	CCDS42559.1																																																																																				0.348	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458434.1		NM_032453	
