#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
ABI3BP	25890	broad.mit.edu	37	3	100595388	100595388	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr3:100595388C>G	ENST00000284322.5	-	7	843	c.734G>C	c.(733-735)aGg>aCg	p.R245T	ABI3BP_ENST00000495063.1_Missense_Mutation_p.R245T|ABI3BP_ENST00000471714.1_Missense_Mutation_p.R245T	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	245					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.R245T(2)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GATTAGTTTCCTTGGGACATA	0.363																																																	2	Substitution - Missense(2)	kidney(2)											162.0	153.0	156.0					3																	100595388		1869	4105	5974	SO:0001583	missense	25890			AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.734G>C	3.37:g.100595388C>G	ENSP00000284322:p.Arg245Thr	Somatic		WXS	Illumina GAIIx	Phase_I	B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.32|13.32	2.201532|2.201532	0.38905|0.38905	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000483129|ENST00000471714;ENST00000284322;ENST00000495063;ENST00000527258	.|T;T	.|0.23147	.|2.15;1.92	5.39|5.39	-2.11|-2.11	0.07187|0.07187	.|.	.|1.075440	.|0.07042	.|N	.|0.830377	T|T	0.29423|0.29423	0.0733|0.0733	L|L	0.44542|0.44542	1.39|1.39	0.54753|0.54753	D|D	0.999986|0.999986	.|P;P;P	.|0.46220	.|0.611;0.874;0.732	.|B;P;B	.|0.47402	.|0.159;0.546;0.204	T|T	0.47032|0.47032	-0.9148|-0.9148	5|10	.|0.72032	.|D	.|0.01	-1.7801|-1.7801	11.796|11.796	0.52100|0.52100	0.0:0.1958:0.0:0.8042|0.0:0.1958:0.0:0.8042	.|.	.|238;245;245	.|Q9H717;Q5JPC9;Q7Z7G0	.|.;.;TARSH_HUMAN	N|T	20|245;245;245;164	.|ENSP00000420524:R245T;ENSP00000284322:R245T	.|ENSP00000284322:R245T	K|R	-|-	3|2	2|0	ABI3BP|ABI3BP	102078078|102078078	0.151000|0.151000	0.22747|0.22747	0.902000|0.902000	0.35471|0.35471	0.849000|0.849000	0.48306|0.48306	-0.221000|-0.221000	0.09202|0.09202	-0.286000|-0.286000	0.09076|0.09076	-0.355000|-0.355000	0.07637|0.07637	AAG|AGG		0.363	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			
ACSM4	341392	hgsc.bcm.edu;ucsc.edu	37	12	7459281	7459281	+	Silent	SNP	C	C	A			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr12:7459281C>A	ENST00000399422.4	+	2	402	c.354C>A	c.(352-354)gcC>gcA	p.A118A		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	118					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						ACCGTTTGGCCGTGATTCTGC	0.512																																																	0													75.0	84.0	81.0					12																	7459281		2086	4248	6334	SO:0001819	synonymous_variant	341392				CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"""Acyl-CoA synthetase family"""	32016	protein-coding gene	gene with protein product	"""similar to olfactory specific medium-chain acyl CoA synthetase"""	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.354C>A	12.37:g.7459281C>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8MTI6	Silent	SNP	ENST00000399422.4	37	CCDS44825.1																																																																																				0.512	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2		NM_001080454	
ADAMTSL3	57188	hgsc.bcm.edu	37	15	84705613	84705614	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr15:84705613_84705614insG	ENST00000286744.5	+	29	5067_5068	c.4843_4844insG	c.(4843-4845)aggfs	p.R1615fs	ADAMTSL3_ENST00000567476.1_Frame_Shift_Ins_p.R1615fs	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1615	TSP type-1 10. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGCCTGTGGCAGGGGTTTCCAG	0.52																																																	0																																										SO:0001589	frameshift_variant	57188			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.4847dupG	15.37:g.84705617_84705617dupG	ENSP00000286744:p.Arg1615fs	Somatic		WXS	Illumina HiSeq	Phase_I	A1A566|A1A567|Q9ULI7	Frame_Shift_Ins	INS	ENST00000286744.5	37	CCDS10326.1																																																																																				0.520	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2		NM_207517	
APOB	338	broad.mit.edu;ucsc.edu	37	2	21256217	21256217	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr2:21256217C>G	ENST00000233242.1	-	9	1205	c.1078G>C	c.(1078-1080)Gat>Cat	p.D360H	APOB_ENST00000399256.4_Missense_Mutation_p.D360H	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	360	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.D360H(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTGCTTCATCACTGAGGCCT	0.423																																																	1	Substitution - Missense(1)	kidney(1)											112.0	106.0	108.0					2																	21256217		2203	4300	6503	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.1078G>C	2.37:g.21256217C>G	ENSP00000233242:p.Asp360His	Somatic		WXS	Illumina GAIIx	Phase_I	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.304833	0.23736	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.39997	1.05;1.05	5.53	-8.69	0.00855	Lipid transport protein, N-terminal (3);Vitellinogen, superhelical (2);	2.010790	0.02230	N	0.064859	T	0.16085	0.0387	N	0.02011	-0.69	0.09310	N	1	B	0.15473	0.013	B	0.17098	0.017	T	0.17289	-1.0374	10	0.17832	T	0.49	.	10.7637	0.46279	0.0:0.4934:0.1796:0.327	.	360	P04114	APOB_HUMAN	H	360	ENSP00000233242:D360H;ENSP00000382200:D360H	ENSP00000233242:D360H	D	-	1	0	APOB	21109722	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.208000	0.09371	-1.541000	0.01727	-0.302000	0.09304	GAT		0.423	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			
C1QC	714	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	22973841	22973841	+	Silent	SNP	C	C	A			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr1:22973841C>A	ENST00000374639.3	+	3	421	c.303C>A	c.(301-303)ccC>ccA	p.P101P	C1QC_ENST00000374637.1_Silent_p.P101P|C1QC_ENST00000374640.4_Silent_p.P101P	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	101	Collagen-like.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.P101P(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGCCCGGCCCCATGGGCATCC	0.642																																					Ovarian(26;671 750 8290 29071 43278)												1	Substitution - coding silent(1)	kidney(1)											45.0	51.0	49.0					1																	22973841		2203	4300	6503	SO:0001819	synonymous_variant	714			AK057792	CCDS227.1	1p36.11	2014-09-17	2006-02-09	2006-02-09	ENSG00000159189	ENSG00000159189		"""Complement system"""	1245	protein-coding gene	gene with protein product		120575	"""complement component 1, q subcomponent, gamma polypeptide"""	C1QG		1706597	Standard	NM_001114101		Approved		uc001bga.4	P02747	OTTHUMG00000002891	ENST00000374639.3:c.303C>A	1.37:g.22973841C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z502|Q96DL2|Q96H05	Silent	SNP	ENST00000374639.3	37	CCDS227.1																																																																																				0.642	C1QC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008083.1		NM_172369	
CACHD1	57685	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	65047954	65047954	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr1:65047954A>T	ENST00000371073.2	+	3	377	c.377A>T	c.(376-378)cAa>cTa	p.Q126L	CACHD1_ENST00000290039.5_Missense_Mutation_p.Q75L|MIR4794_ENST00000582305.1_RNA|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	126					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)		p.Q75L(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ACTGCAATTCAAGACTGCTGT	0.398																																																	1	Substitution - Missense(1)	kidney(1)											211.0	189.0	196.0					1																	65047954		1883	4119	6002	SO:0001583	missense	57685			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.377A>T	1.37:g.65047954A>T	ENSP00000360113:p.Gln126Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37		.	.	.	.	.	.	.	.	.	.	A	16.66	3.184070	0.57800	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.24908	1.83;1.83	5.63	5.63	0.86233	VWA N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.19406	0.0466	N	0.08118	0	0.80722	D	1	P	0.49559	0.925	D	0.67900	0.954	T	0.28138	-1.0053	10	0.31617	T	0.26	-19.4221	15.8498	0.78921	1.0:0.0:0.0:0.0	.	126	Q5VU97	CAHD1_HUMAN	L	126;75	ENSP00000360113:Q126L;ENSP00000290039:Q75L	ENSP00000290039:Q75L	Q	+	2	0	CACHD1	64820542	1.000000	0.71417	0.977000	0.42913	0.636000	0.38137	8.792000	0.91856	2.157000	0.67596	0.533000	0.62120	CAA		0.398	CACHD1-201	KNOWN	basic	protein_coding	protein_coding			NM_020925	
CCDC73	493860	broad.mit.edu;ucsc.edu	37	11	32697453	32697453	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr11:32697453G>T	ENST00000335185.5	-	8	587	c.544C>A	c.(544-546)Cat>Aat	p.H182N	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	182								p.H182N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					AACTTTTCATGATTCTCTTTT	0.289																																																	1	Substitution - Missense(1)	kidney(1)											159.0	149.0	152.0					11																	32697453		1818	4070	5888	SO:0001583	missense	493860			AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.544C>A	11.37:g.32697453G>T	ENSP00000335325:p.His182Asn	Somatic		WXS	Illumina GAIIx	Phase_I	Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248443	0.80024	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.89	5.89	0.94794	.	.	.	.	.	T	0.76543	0.4002	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	0.986;1.0	P;D	0.74023	0.797;0.982	T	0.69953	-0.5005	8	0.25751	T	0.34	.	20.2508	0.98407	0.0:0.0:1.0:0.0	.	182;182	Q6ZRK6-2;Q6ZRK6	.;CCD73_HUMAN	N	182	.	ENSP00000335325:H182N	H	-	1	0	CCDC73	32654029	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.157000	0.77461	2.788000	0.95919	0.585000	0.79938	CAT		0.289	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2		NM_001008391	
CDH5	1003	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	66430033	66430033	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr16:66430033A>T	ENST00000341529.3	+	8	1437	c.1289A>T	c.(1288-1290)gAg>gTg	p.E430V	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	430	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)	p.E430V(1)		central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	ATTTACAATGAGAAAGAACTG	0.522																																																	1	Substitution - Missense(1)	kidney(1)											96.0	91.0	93.0					16																	66430033		2201	4300	6501	SO:0001583	missense	1003			X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.1289A>T	16.37:g.66430033A>T	ENSP00000344115:p.Glu430Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	A	8.304	0.820479	0.16678	.	.	ENSG00000179776	ENST00000341529;ENST00000539262	T	0.48836	0.8	4.96	3.81	0.43845	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.26846	0.0657	N	0.12611	0.24	0.19300	N	0.99998	B	0.09022	0.002	B	0.12837	0.008	T	0.05886	-1.0858	9	0.39692	T	0.17	.	4.8264	0.13417	0.5623:0.1522:0.0:0.2855	.	430	P33151	CADH5_HUMAN	V	430;171	ENSP00000344115:E430V	ENSP00000344115:E430V	E	+	2	0	CDH5	64987534	0.009000	0.17119	1.000000	0.80357	0.806000	0.45545	1.309000	0.33539	2.094000	0.63399	0.459000	0.35465	GAG		0.522	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1		NM_001795	
CENPC	1060	broad.mit.edu;hgsc.bcm.edu	37	4	68384984	68384984	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr4:68384984C>T	ENST00000273853.6	-	6	818	c.568G>A	c.(568-570)Gta>Ata	p.V190I		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	190					chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)	p.V190I(1)									AGCATATTTACTGAATTTTCA	0.308																																																	1	Substitution - Missense(1)	kidney(1)											69.0	68.0	68.0					4																	68384984		1802	4070	5872	SO:0001583	missense	1060			M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"""centromere protein C 1"""	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.568G>A	4.37:g.68384984C>T	ENSP00000273853:p.Val190Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q8IW27|Q9P0M5	Missense_Mutation	SNP	ENST00000273853.6	37	CCDS47063.1	.	.	.	.	.	.	.	.	.	.	C	8.084	0.773127	0.16051	.	.	ENSG00000145241	ENST00000273853	.	.	.	4.95	1.11	0.20524	.	1.079530	0.07210	N	0.859019	T	0.28566	0.0707	L	0.31926	0.97	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.12156	0.007;0.007	T	0.25293	-1.0136	9	0.30854	T	0.27	0.2627	2.949	0.05855	0.3017:0.4398:0.1697:0.0888	.	190;190	Q8IW27;Q03188	.;CENPC_HUMAN	I	190	.	ENSP00000273853:V190I	V	-	1	0	CENPC1	68067579	0.622000	0.27085	0.022000	0.16811	0.483000	0.33249	-0.104000	0.10923	-0.025000	0.13918	-0.293000	0.09583	GTA		0.308	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362001.2			
DDX20	11218	broad.mit.edu;ucsc.edu	37	1	112302139	112302139	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr1:112302139T>C	ENST00000369702.4	+	3	1134	c.514T>C	c.(514-516)Tca>Cca	p.S172P	DDX20_ENST00000475700.1_5'Flank|DDX20_ENST00000536167.1_Intron	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	172	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)	p.S172P(1)		endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GACCCCATTATCACAAGACAA	0.383																																																	1	Substitution - Missense(1)	kidney(1)											128.0	125.0	126.0					1																	112302139		2203	4300	6503	SO:0001583	missense	11218			AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"""DEAD-boxes"""	2743	protein-coding gene	gene with protein product		606168	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"""			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.514T>C	1.37:g.112302139T>C	ENSP00000358716:p.Ser172Pro	Somatic		WXS	Illumina GAIIx	Phase_I	B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Missense_Mutation	SNP	ENST00000369702.4	37	CCDS842.1	.	.	.	.	.	.	.	.	.	.	T	12.66	2.004706	0.35320	.	.	ENSG00000064703	ENST00000369702	T	0.15603	2.41	4.97	3.84	0.44239	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.499782	0.21078	N	0.080521	T	0.03011	0.0089	N	0.15975	0.35	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.26360	-1.0105	10	0.44086	T	0.13	-2.4846	3.4821	0.07606	0.2101:0.1759:0.0:0.614	.	172	Q9UHI6	DDX20_HUMAN	P	172	ENSP00000358716:S172P	ENSP00000358716:S172P	S	+	1	0	DDX20	112103662	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.414000	0.52693	0.742000	0.32697	0.482000	0.46254	TCA		0.383	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2		NM_007204	
CENPF	1063	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	214802408	214802408	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr1:214802408A>T	ENST00000366955.3	+	8	1256	c.1088A>T	c.(1087-1089)aAa>aTa	p.K363I		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0	Interaction with SNAP25 and required for localization to the cytoplasm. {ECO:0000250}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.K363I(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TTGGAACAAAAACTGAAAAAA	0.289																																					Colon(80;575 1284 11000 14801 43496)												1	Substitution - Missense(1)	kidney(1)											47.0	53.0	51.0					1																	214802408		2202	4300	6502	SO:0001583	missense	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.1088A>T	1.37:g.214802408A>T	ENSP00000355922:p.Lys363Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.565902	0.86439	.	.	ENSG00000117724	ENST00000366955	T	0.79554	-1.28	5.61	5.61	0.85477	.	0.000000	0.37012	N	0.002284	D	0.89698	0.6790	.	.	.	0.49389	D	0.999786	D	0.76494	0.999	D	0.75020	0.985	D	0.91017	0.4854	9	0.72032	D	0.01	.	15.47	0.75434	1.0:0.0:0.0:0.0	.	363	P49454	CENPF_HUMAN	I	363	ENSP00000355922:K363I	ENSP00000355922:K363I	K	+	2	0	CENPF	212869031	1.000000	0.71417	0.995000	0.50966	0.966000	0.64601	7.356000	0.79445	2.134000	0.65973	0.533000	0.62120	AAA		0.289	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1		NM_016343	
DOCK10	55619	broad.mit.edu;ucsc.edu	37	2	225637922	225637922	+	Silent	SNP	C	C	G			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr2:225637922C>G	ENST00000258390.7	-	53	6223	c.6156G>C	c.(6154-6156)gtG>gtC	p.V2052V	DOCK10_ENST00000409592.3_Silent_p.V2046V	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	2052	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V559V(2)|p.V2050V(2)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TGATCATGTCCACTTCTTCCA	0.473																																																	4	Substitution - coding silent(4)	kidney(4)											111.0	106.0	108.0					2																	225637922		2175	4275	6450	SO:0001819	synonymous_variant	55619			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.6156G>C	2.37:g.225637922C>G		Somatic		WXS	Illumina GAIIx	Phase_I	B3FL70|O75178|Q9NW06|Q9NXI8	Silent	SNP	ENST00000258390.7	37	CCDS46528.1																																																																																				0.473	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			
DPCR1	135656	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	30919792	30919792	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr6:30919792C>T	ENST00000462446.1	+	2	3579	c.3551C>T	c.(3550-3552)cCa>cTa	p.P1184L	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_Missense_Mutation_p.P26L			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	314						integral component of membrane (GO:0016021)		p.P1184L(1)|p.P26L(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						ACAAGAACCCCAGAAAAGCCT	0.478																																																	2	Substitution - Missense(2)	kidney(2)											158.0	158.0	158.0					6																	30919792		2203	4300	6503	SO:0001583	missense	135656			AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.3551C>T	6.37:g.30919792C>T	ENSP00000417182:p.Pro1184Leu	Somatic		WXS	Illumina HiSeq	Phase_I	C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	ENST00000462446.1	37	CCDS4692.2	.	.	.	.	.	.	.	.	.	.	C	11.65	1.702319	0.30232	.	.	ENSG00000168631	ENST00000462446;ENST00000304311	T;T	0.24908	1.89;1.83	1.88	0.014	0.14098	.	.	.	.	.	T	0.10121	0.0248	L	0.38175	1.15	0.09310	N	1	D	0.62365	0.991	P	0.50405	0.64	T	0.08911	-1.0699	9	0.66056	D	0.02	.	2.005	0.03475	0.2608:0.3951:0.0:0.344	.	1184	E9PEI6	.	L	1184;26	ENSP00000417182:P1184L;ENSP00000305948:P26L	ENSP00000305948:P26L	P	+	2	0	DPCR1	31027771	0.000000	0.05858	0.002000	0.10522	0.191000	0.23601	-1.243000	0.02905	-0.037000	0.13646	0.448000	0.29417	CCA		0.478	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076173.3		NM_080870	
FAM118A	55007	broad.mit.edu;ucsc.edu	37	22	45726594	45726595	+	Nonsense_Mutation	DNP	TC	TC	CT			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr22:45726594_45726595TC>CT	ENST00000216214.3	+	6	1467_1468	c.633_634TC>CT	c.(631-636)acTCaa>acCTaa	p.Q212*	FAM118A_ENST00000405548.3_Nonsense_Mutation_p.Q30*|FAM118A_ENST00000441876.2_Nonsense_Mutation_p.Q212*	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	212						integral component of membrane (GO:0016021)		p.Q212*(1)|p.T211T(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AAGACGTCACTCAAGACGCAGA	0.589																																																	2	Substitution - Nonsense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001587	stop_gained	55007			BC013696	CCDS14065.1	22q13.3	2006-04-26	2006-04-26	2006-04-26	ENSG00000100376	ENSG00000100376			1313	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 8"""	C22orf8		12477932	Standard	NM_001104595		Approved	FLJ20635, bK268H5.C22.4	uc003bga.4	Q9NWS6	OTTHUMG00000151338	Exception_encountered	22.37:g.45726594_45726595delinsCT	ENSP00000216214:p.Gln212*	Somatic		WXS	Illumina GAIIx	Phase_I	B3KWG4|B4DY02|Q5TII5|Q96CY3	Silent|Nonsense_Mutation	SNP	ENST00000216214.3	37	CCDS14065.1																																																																																				0.589	FAM118A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322260.1		NM_017911	
FCRL4	83417	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	157566118	157566118	+	Splice_Site	SNP	C	C	T			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr1:157566118C>T	ENST00000271532.1	-	2	187	c.52G>A	c.(52-54)Gca>Aca	p.A18T		NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	18		Breakpoint for insertion to form FCRL4- IGHA1 fusion protein.			immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A18T(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				AAGGACTTACCAGATTGTCCA	0.418																																																	1	Substitution - Missense(1)	kidney(1)											73.0	78.0	76.0					1																	157566118		2203	4300	6503	SO:0001630	splice_region_variant	83417			AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.52+1G>A	1.37:g.157566118C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q96PJ3|Q96RE0	Missense_Mutation	SNP	ENST00000271532.1	37	CCDS1166.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014359	0.75161	.	.	ENSG00000163518	ENST00000271532	T	0.20200	2.09	4.68	4.68	0.58851	.	0.268976	0.19814	N	0.105476	T	0.22820	0.0551	M	0.77406	2.37	0.41499	D	0.988272	P	0.46784	0.884	P	0.47162	0.54	T	0.02020	-1.1228	9	.	.	.	.	12.9675	0.58492	0.0:1.0:0.0:0.0	.	18	Q96PJ5	FCRL4_HUMAN	T	18	ENSP00000271532:A18T	.	A	-	1	0	FCRL4	155832742	0.905000	0.30787	0.940000	0.37924	0.867000	0.49689	1.604000	0.36804	2.420000	0.82092	0.467000	0.42956	GCA		0.418	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1		NM_031282	Missense_Mutation
GALNT2	2590	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	230398728	230398728	+	Silent	SNP	T	T	A			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr1:230398728T>A	ENST00000366672.4	+	13	1362	c.1290T>A	c.(1288-1290)ctT>ctA	p.L430L	GALNT2_ENST00000543760.1_Silent_p.L392L|GALNT2_ENST00000485438.1_3'UTR|RP5-956O18.2_ENST00000440729.1_RNA|GALNT2_ENST00000541865.1_3'UTR	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	430					cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.L430L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				AATGGTACCTTGAAAATGTCT	0.428																																																	1	Substitution - coding silent(1)	kidney(1)											86.0	90.0	89.0					1																	230398728		2203	4300	6503	SO:0001819	synonymous_variant	2590			BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.1290T>A	1.37:g.230398728T>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Silent	SNP	ENST00000366672.4	37	CCDS1582.1																																																																																				0.428	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1		NM_004481	
GLI3	2737	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	42003966	42003966	+	Missense_Mutation	SNP	G	G	C	rs35765130		TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr7:42003966G>C	ENST00000395925.3	-	15	4789	c.4705C>G	c.(4705-4707)Cta>Gta	p.L1569V	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1569					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L1569V(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TCTTCCGCTAGGGAGGTCAGC	0.507									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																								1	Substitution - Missense(1)	kidney(1)											74.0	72.0	73.0					7																	42003966		2203	4300	6503	SO:0001583	missense	2737	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.4705C>G	7.37:g.42003966G>C	ENSP00000379258:p.Leu1569Val	Somatic		WXS	Illumina HiSeq	Phase_I	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734111	0.89482	.	.	ENSG00000106571	ENST00000395925	T	0.54071	0.59	6.03	6.03	0.97812	.	0.119075	0.64402	D	0.000018	T	0.71813	0.3384	L	0.60067	1.865	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.71563	-0.4555	10	0.87932	D	0	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	1569	P10071	GLI3_HUMAN	V	1569	ENSP00000379258:L1569V	ENSP00000379258:L1569V	L	-	1	2	GLI3	41970491	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	7.955000	0.87856	2.861000	0.98227	0.655000	0.94253	CTA		0.507	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3		NM_000168	
GPR101	83550	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	136112591	136112591	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chrX:136112591A>T	ENST00000298110.1	-	1	1242	c.1243T>A	c.(1243-1245)Tac>Aac	p.Y415N		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	415						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.Y415N(1)		autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					AAAAAGCAGTAGGGCCCCAGG	0.517																																																	1	Substitution - Missense(1)	kidney(1)											85.0	79.0	81.0					X																	136112591		2203	4300	6503	SO:0001583	missense	83550			AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.1243T>A	X.37:g.136112591A>T	ENSP00000298110:p.Tyr415Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	A	17.46	3.394495	0.62066	.	.	ENSG00000165370	ENST00000298110	T	0.74526	-0.85	5.46	5.46	0.80206	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30890	N	0.008678	T	0.81612	0.4859	L	0.48642	1.525	0.45791	D	0.998676	D	0.89917	1.0	D	0.87578	0.998	T	0.83349	-0.0004	10	0.87932	D	0	-21.0012	12.5824	0.56397	1.0:0.0:0.0:0.0	.	415	Q96P66	GP101_HUMAN	N	415	ENSP00000298110:Y415N	ENSP00000298110:Y415N	Y	-	1	0	GPR101	135940257	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	6.322000	0.72886	1.947000	0.56498	0.425000	0.28330	TAC		0.517	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			
GPR110	266977	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	46977222	46977222	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr6:46977222G>A	ENST00000371253.2	-	11	2164	c.1949C>T	c.(1948-1950)aCg>aTg	p.T650M	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.T453M	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	650					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T650M(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						AGGGTTCACCGTGGTGTCCAC	0.498																																																	1	Substitution - Missense(1)	kidney(1)											113.0	87.0	96.0					6																	46977222		2203	4300	6503	SO:0001583	missense	266977			AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.1949C>T	6.37:g.46977222G>A	ENSP00000360299:p.Thr650Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	37	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	G	0.117	-1.130063	0.01756	.	.	ENSG00000153292	ENST00000371253;ENST00000283297	T;T	0.43294	0.95;0.95	5.77	0.257	0.15574	GPCR, family 2-like (1);	1.226040	0.05660	N	0.586652	T	0.14570	0.0352	L	0.39898	1.24	0.09310	N	1	B	0.19445	0.036	B	0.19148	0.024	T	0.33701	-0.9858	10	0.49607	T	0.09	0.3966	5.9942	0.19485	0.255:0.0831:0.5708:0.0911	.	650	Q5T601	GP110_HUMAN	M	650;453	ENSP00000360299:T650M;ENSP00000283297:T453M	ENSP00000283297:T453M	T	-	2	0	GPR110	47085181	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.216000	0.09266	-0.091000	0.12440	-0.813000	0.03139	ACG		0.498	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2		NM_153840	
GPR98	84059	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	89986798	89986798	+	Silent	SNP	G	G	A			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr5:89986798G>A	ENST00000405460.2	+	31	6987	c.6891G>A	c.(6889-6891)ggG>ggA	p.G2297G		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2297	Calx-beta 16. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.G2297G(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGCCCCTGGGGAAACCATTC	0.493																																																	1	Substitution - coding silent(1)	kidney(1)											125.0	122.0	123.0					5																	89986798		1961	4152	6113	SO:0001819	synonymous_variant	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.6891G>A	5.37:g.89986798G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281615	0.23392	.	.	ENSG00000164199	ENST00000399043	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.647	0.51267	0.1366:0.0:0.8634:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPR98	90022554	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.281000	0.51685	2.807000	0.96579	0.591000	0.81541	.		0.493	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2		NM_032119	
GRB10	2887	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	50660657	50660657	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr7:50660657C>T	ENST00000401949.1	-	19	2246	c.1777G>A	c.(1777-1779)Gcc>Acc	p.A593T	GRB10_ENST00000335866.3_Missense_Mutation_p.A535T|GRB10_ENST00000402578.1_Missense_Mutation_p.A535T|GRB10_ENST00000406641.1_Missense_Mutation_p.A535T|GRB10_ENST00000357271.5_Missense_Mutation_p.A547T|GRB10_ENST00000398812.2_Missense_Mutation_p.A593T|GRB10_ENST00000407526.1_Missense_Mutation_p.A535T|GRB10_ENST00000402497.1_Missense_Mutation_p.A535T|GRB10_ENST00000439599.1_Missense_Mutation_p.A587T|GRB10_ENST00000403097.1_Missense_Mutation_p.A587T|GRB10_ENST00000398810.2_Missense_Mutation_p.A535T			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	593					insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)	p.A587T(1)|p.A593T(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					GGTCATAAGGCCACTCGGATG	0.517									Russell-Silver syndrome																																								2	Substitution - Missense(2)	kidney(2)											145.0	145.0	145.0					7																	50660657		2080	4224	6304	SO:0001583	missense	2887	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.1777G>A	7.37:g.50660657C>T	ENSP00000385770:p.Ala593Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Missense_Mutation	SNP	ENST00000401949.1	37	CCDS43582.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500135	0.85176	.	.	ENSG00000106070	ENST00000398812;ENST00000439599;ENST00000335866;ENST00000398810;ENST00000402578;ENST00000403097;ENST00000406641;ENST00000357271;ENST00000407526;ENST00000401949;ENST00000398791;ENST00000402497	D;D;D;D;D;D;D;D;D;D;D	0.84730	-1.81;-1.81;-1.89;-1.89;-1.89;-1.81;-1.89;-1.59;-1.89;-1.81;-1.89	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.78368	0.4272	N	0.22421	0.69	0.80722	D	1	P;P;P	0.42757	0.789;0.789;0.684	B;B;B	0.37015	0.239;0.239;0.121	T	0.81364	-0.0966	10	0.62326	D	0.03	-27.2829	19.7417	0.96234	0.0:1.0:0.0:0.0	.	587;547;593	Q13322-4;Q13322-2;Q13322	.;.;GRB10_HUMAN	T	593;587;535;535;535;587;535;547;535;593;125;535	ENSP00000381793:A593T;ENSP00000406716:A587T;ENSP00000338543:A535T;ENSP00000381790:A535T;ENSP00000385189:A535T;ENSP00000385544:A587T;ENSP00000385366:A535T;ENSP00000349818:A547T;ENSP00000385046:A535T;ENSP00000385770:A593T;ENSP00000385748:A535T	ENSP00000338543:A535T	A	-	1	0	GRB10	50628151	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.661000	0.90470	0.655000	0.94253	GCC		0.517	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1			
HCFC1	3054	broad.mit.edu	37	X	153222975	153222975	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chrX:153222975G>A	ENST00000310441.7	-	13	3109	c.2143C>T	c.(2143-2145)Ccc>Tcc	p.P715S	HCFC1_ENST00000354233.3_Missense_Mutation_p.P646S|HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000369984.4_Missense_Mutation_p.P715S	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	715	Interaction with SIN3A.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.P618S(1)|p.P715S(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTGGCAGGGGCCCTTTGGTC	0.637																																																	2	Substitution - Missense(2)	kidney(2)											48.0	49.0	49.0					X																	153222975		2033	4160	6193	SO:0001583	missense	3054				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.2143C>T	X.37:g.153222975G>A	ENSP00000309555:p.Pro715Ser	Somatic		WXS	Illumina GAIIx	Phase_I	Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.601279	0.66445	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.03065	4.07;4.1;4.06	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.06600	0.0169	L	0.27053	0.805	0.50313	D	0.999869	P	0.51057	0.941	P	0.49332	0.607	T	0.34153	-0.9840	10	0.62326	D	0.03	.	16.9997	0.86378	0.0:0.0:1.0:0.0	.	715	P51610	HCFC1_HUMAN	S	715;715;646	ENSP00000309555:P715S;ENSP00000359001:P715S;ENSP00000346174:P646S	ENSP00000309555:P715S	P	-	1	0	HCFC1	152876169	1.000000	0.71417	0.996000	0.52242	0.498000	0.33706	5.932000	0.70121	2.277000	0.76020	0.600000	0.82982	CCC		0.637	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4		NM_005334	
HNRNPUL1	11100	broad.mit.edu;ucsc.edu	37	19	41811645	41811645	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr19:41811645C>G	ENST00000392006.3	+	14	2500	c.2327C>G	c.(2326-2328)cCt>cGt	p.P776R	HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.P687R|HNRNPUL1_ENST00000602130.1_Intron|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.P676R|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.P676R|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.P672R|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.P686R	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	776	Necessary for interaction with TP53.|Pro-rich.|Tyr-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.P776R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						GCCCCACCGCCTCCACCTCCA	0.612																																																	1	Substitution - Missense(1)	kidney(1)											93.0	91.0	92.0					19																	41811645		2203	4300	6503	SO:0001583	missense	11100			AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.2327C>G	19.37:g.41811645C>G	ENSP00000375863:p.Pro776Arg	Somatic		WXS	Illumina GAIIx	Phase_I	B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Missense_Mutation	SNP	ENST00000392006.3	37	CCDS12576.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.716025	0.48622	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000378215;ENST00000263367	D;T;D	0.93307	-3.2;1.51;-3.2	4.67	4.67	0.58626	.	0.000000	0.64402	D	0.000014	D	0.91549	0.7331	N	0.14661	0.345	0.34026	D	0.653227	P;D;D;D;D;P	0.61697	0.841;0.99;0.982;0.98;0.965;0.901	B;P;P;P;B;B	0.61592	0.079;0.891;0.55;0.6;0.396;0.164	D	0.91893	0.5525	10	0.25106	T	0.35	-5.398	14.6599	0.68861	0.0:1.0:0.0:0.0	.	676;310;776;672;776;676	A8K3W4;Q9BUJ2-5;A8K5K0;Q9BUJ2-3;Q9BUJ2;Q9BUJ2-4	.;.;.;.;HNRL1_HUMAN;.	R	676;776;672;687	ENSP00000375863:P776R;ENSP00000367460:P672R;ENSP00000263367:P687R	ENSP00000263367:P687R	P	+	2	0	HNRNPUL1	46503485	0.988000	0.35896	1.000000	0.80357	0.965000	0.64279	2.537000	0.45702	2.446000	0.82766	0.485000	0.47835	CCT		0.612	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1		NM_144732, NM_007040	
IGSF1	3547	broad.mit.edu;ucsc.edu	37	X	130409967	130409967	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chrX:130409967T>C	ENST00000361420.3	-	15	2943	c.2864A>G	c.(2863-2865)tAt>tGt	p.Y955C	IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370903.3_Missense_Mutation_p.Y960C|IGSF1_ENST00000370910.1_Missense_Mutation_p.Y946C|IGSF1_ENST00000370904.1_Missense_Mutation_p.Y946C			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	955	Ig-like C2-type 9.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)	p.Y955C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CATACTGAGATATGACCCCCT	0.502																																																	1	Substitution - Missense(1)	kidney(1)											91.0	70.0	77.0					X																	130409967		2203	4300	6503	SO:0001583	missense	3547			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.2864A>G	X.37:g.130409967T>C	ENSP00000355010:p.Tyr955Cys	Somatic		WXS	Illumina GAIIx	Phase_I	B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	T	4.429	0.079294	0.08533	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.00737	5.76;5.76;5.76;5.76	5.2	2.68	0.31781	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.565866	0.13420	N	0.389267	T	0.01287	0.0042	L	0.34521	1.04	0.09310	N	1	P;B;D	0.56287	0.771;0.263;0.975	B;P;P	0.51657	0.296;0.676;0.526	T	0.56300	-0.8002	10	0.42905	T	0.14	.	9.0694	0.36482	0.0:0.0:0.3207:0.6793	.	946;399;955	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	C	946;955;946;960	ENSP00000359947:Y946C;ENSP00000355010:Y955C;ENSP00000359941:Y946C;ENSP00000359940:Y960C	ENSP00000355010:Y955C	Y	-	2	0	IGSF1	130237648	0.771000	0.28555	0.052000	0.19188	0.087000	0.18053	2.516000	0.45520	0.216000	0.20781	0.486000	0.48141	TAT		0.502	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			
IQGAP2	10788	hgsc.bcm.edu;ucsc.edu	37	5	75886315	75886315	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr5:75886315delT	ENST00000274364.6	+	8	1020	c.723delT	c.(721-723)aatfs	p.N241fs	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	241					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GAAACCCAAATGCGGTTTTAA	0.383																																																	0													94.0	93.0	93.0					5																	75886315		2203	4300	6503	SO:0001589	frameshift_variant	10788			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.723delT	5.37:g.75886315delT	ENSP00000274364:p.Asn241fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K4V1|B7Z8A4|J3KR91	Frame_Shift_Del	DEL	ENST00000274364.6	37	CCDS34188.1																																																																																				0.383	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1		NM_006633	
IRAK4	51135	broad.mit.edu	37	12	44176279	44176279	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr12:44176279T>C	ENST00000448290.2	+	9	1182	c.1111T>C	c.(1111-1113)Tac>Cac	p.Y371H	IRAK4_ENST00000440781.2_Missense_Mutation_p.Y247H|IRAK4_ENST00000551736.1_Missense_Mutation_p.Y371H|IRAK4_ENST00000431837.1_Missense_Mutation_p.Y247H	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	371	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.Y371H(1)				all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		ATCTGATATTTACAGCTTTGG	0.348																																																	1	Substitution - Missense(1)	kidney(1)											62.0	61.0	61.0					12																	44176279		2203	4300	6503	SO:0001583	missense	51135			AF155118	CCDS8744.1, CCDS44862.1	12q12	2014-09-17				ENSG00000198001			17967	protein-coding gene	gene with protein product		606883				3772297, 10508479	Standard	NM_001114182		Approved	NY-REN-64	uc001rnt.3	Q9NWZ3		ENST00000448290.2:c.1111T>C	12.37:g.44176279T>C	ENSP00000390651:p.Tyr371His	Somatic		WXS	Illumina GAIIx	Phase_I	Q69FE1|Q8TDF7|Q9Y589	Missense_Mutation	SNP	ENST00000448290.2	37	CCDS8744.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.599948	0.87055	.	.	ENSG00000198001	ENST00000440781;ENST00000431837;ENST00000448290;ENST00000551736	D;D;D;D	0.95554	-3.74;-3.74;-3.74;-3.74	5.62	5.62	0.85841	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.064391	0.64402	D	0.000007	D	0.97955	0.9327	M	0.89478	3.035	0.53005	D	0.999962	D	0.63880	0.993	D	0.72338	0.977	D	0.98928	1.0786	10	0.87932	D	0	-12.1557	15.8229	0.78673	0.0:0.0:0.0:1.0	.	371	Q9NWZ3	IRAK4_HUMAN	H	247;247;371;371	ENSP00000408734:Y247H;ENSP00000390327:Y247H;ENSP00000390651:Y371H;ENSP00000446490:Y371H	ENSP00000390327:Y247H	Y	+	1	0	IRAK4	42462546	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.698000	0.84413	2.130000	0.65690	0.477000	0.44152	TAC		0.348	IRAK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403947.1			
KIF13B	23303	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	29018273	29018273	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr8:29018273C>T	ENST00000524189.1	-	13	1419	c.1381G>A	c.(1381-1383)Gag>Aag	p.E461K	KIF13B_ENST00000521515.1_Missense_Mutation_p.E461K	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	461					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)	p.E461K(2)		endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		ACCAGAAGCTCATTCAGAGCT	0.388																																																	2	Substitution - Missense(2)	kidney(2)											84.0	80.0	82.0					8																	29018273		1862	4102	5964	SO:0001583	missense	23303			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.1381G>A	8.37:g.29018273C>T	ENSP00000427900:p.Glu461Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046878	0.75846	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	T;T	0.80824	-1.42;-1.23	5.0	5.0	0.66597	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	D	0.91928	0.7444	M	0.91612	3.225	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.995	D;D;D	0.79784	0.98;0.993;0.981	D	0.93539	0.6876	10	0.87932	D	0	.	18.4925	0.90853	0.0:1.0:0.0:0.0	.	447;461;461	C9JK41;Q9NQT8;F8VPJ2	.;KI13B_HUMAN;.	K	461	ENSP00000427900:E461K;ENSP00000429201:E461K	ENSP00000429201:E461K	E	-	1	0	KIF13B	29074192	1.000000	0.71417	1.000000	0.80357	0.154000	0.21943	7.593000	0.82686	2.607000	0.88179	0.655000	0.94253	GAG		0.388	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			
KIF19	124602	broad.mit.edu	37	17	72342609	72342609	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr17:72342609G>T	ENST00000389916.4	+	8	1008	c.870G>T	c.(868-870)aaG>aaT	p.K290N		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	290	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)	p.K290N(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						TGAGCGACAAGGGTAGCAACA	0.612																																																	1	Substitution - Missense(1)	kidney(1)											83.0	50.0	61.0					17																	72342609		2163	4225	6388	SO:0001583	missense	124602			AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.870G>T	17.37:g.72342609G>T	ENSP00000374566:p.Lys290Asn	Somatic		WXS	Illumina GAIIx	Phase_I	A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	G	8.972	0.973142	0.18736	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.72282	-0.64;-0.64	5.8	2.74	0.32292	Kinesin, motor domain (3);	.	.	.	.	T	0.63307	0.2500	L	0.46741	1.465	0.09310	N	0.999999	B;B;B;B	0.21520	0.057;0.023;0.004;0.004	B;B;B;B	0.25506	0.042;0.061;0.008;0.021	T	0.56926	-0.7898	9	0.54805	T	0.06	.	9.1064	0.36701	0.2827:0.0:0.7173:0.0	.	290;248;248;290	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	N	248;290	ENSP00000449134:K248N;ENSP00000374566:K290N	ENSP00000374566:K290N	K	+	3	2	KIF19	69854204	0.992000	0.36948	0.113000	0.21522	0.018000	0.09664	0.859000	0.27858	0.813000	0.34350	-0.264000	0.10439	AAG		0.612	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2		NM_153209	
LRPPRC	10128	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	44201856	44201856	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr2:44201856G>T	ENST00000260665.7	-	8	963	c.906C>A	c.(904-906)gaC>gaA	p.D302E	LRPPRC_ENST00000409659.1_Missense_Mutation_p.D302E|LRPPRC_ENST00000409946.1_Missense_Mutation_p.D302E	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	302					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.D302E(1)		breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GTAAATCACGGTCCATAAGGT	0.343																																																	1	Substitution - Missense(1)	kidney(1)											51.0	54.0	53.0					2																	44201856		2203	4300	6503	SO:0001583	missense	10128			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.906C>A	2.37:g.44201856G>T	ENSP00000260665:p.Asp302Glu	Somatic		WXS	Illumina HiSeq	Phase_I	A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	37	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.959599	0.53400	.	.	ENSG00000138095	ENST00000465633;ENST00000260665;ENST00000409946;ENST00000409659;ENST00000447246	T;T;T;T	0.67171	0.36;0.35;0.34;-0.25	5.96	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.77948	0.4207	M	0.83953	2.67	0.54753	D	0.999985	D;P;D	0.76494	0.996;0.873;0.999	P;P;D	0.85130	0.849;0.533;0.997	T	0.78738	-0.2087	10	0.02654	T	1	-0.901	10.666	0.45731	0.1536:0.0:0.8464:0.0	.	202;276;302	F5H4J6;C9JCA9;P42704	.;.;LPPRC_HUMAN	E	202;302;302;302;276	ENSP00000260665:D302E;ENSP00000386234:D302E;ENSP00000386562:D302E;ENSP00000403637:D276E	ENSP00000260665:D302E	D	-	3	2	LRPPRC	44055360	0.999000	0.42202	1.000000	0.80357	0.633000	0.38033	0.595000	0.24029	1.422000	0.47177	0.655000	0.94253	GAC		0.343	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1		NM_133259	
C7orf55-LUC7L2	100996928	broad.mit.edu;ucsc.edu	37	7	139097305	139097305	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr7:139097305C>A	ENST00000354926.4	+	8	1142	c.788C>A	c.(787-789)tCa>tAa	p.S263*	LUC7L2_ENST00000541515.3_Nonsense_Mutation_p.S329*|C7orf55-LUC7L2_ENST00000263545.6_Nonsense_Mutation_p.S262*|C7orf55-LUC7L2_ENST00000541170.3_Nonsense_Mutation_p.S260*	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2			C7orf55-LUC7L2 readthrough									p.S263*(1)									AGGTCCCGATCACACAGCAAG	0.289																																																	1	Substitution - Nonsense(1)	kidney(1)											119.0	117.0	118.0					7																	139097305		1807	4070	5877	SO:0001587	stop_gained	51631				CCDS59084.1	7q34	2013-02-14			ENSG00000146963	ENSG00000146963			44671	other	readthrough							Standard	NM_001244584		Approved		uc011kqt.3		OTTHUMG00000151717	ENST00000354926.4:c.788C>A	7.37:g.139097305C>A	ENSP00000347005:p.Ser263*	Somatic		WXS	Illumina GAIIx	Phase_I		Nonsense_Mutation	SNP	ENST00000354926.4	37	CCDS43656.1	.	.	.	.	.	.	.	.	.	.	C	38	6.641839	0.97726	.	.	ENSG00000146963	ENST00000541170;ENST00000541515;ENST00000545899;ENST00000354926;ENST00000263545	.	.	.	5.49	5.49	0.81192	.	0.497073	0.19283	N	0.118110	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-4.891	17.5705	0.87933	0.0:1.0:0.0:0.0	.	.	.	.	X	260;329;263;263;262	.	ENSP00000263545:S262X	S	+	2	0	LUC7L2	138747845	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.281000	0.65609	2.583000	0.87209	0.650000	0.86243	TCA		0.289	C7orf55-LUC7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323618.2			
PLEKHA3	65977	hgsc.bcm.edu;ucsc.edu	37	2	179375304	179375304	+	3'UTR	SNP	G	G	A			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr2:179375304G>A	ENST00000234453.5	+	0	7995					NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3							Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			gcttgtgggcgtgggtgaaca	0.532																																																	0													92.0	95.0	94.0					2																	179375304		692	1591	2283	SO:0001624	3_prime_UTR_variant	100302152			AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"""Pleckstrin homology (PH) domain containing"""	14338	protein-coding gene	gene with protein product	"""four-phosphate-adaptor protein 1"""	607774	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"""			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446	ENST00000234453.5:c.*6690G>A	2.37:g.179375304G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q4ZG69|Q86TQ1|Q9NXT3	RNA	SNP	ENST00000234453.5	37	CCDS33336.1																																																																																				0.532	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335241.2		NM_019091	
MYBPC2	4606	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	50939919	50939919	+	Missense_Mutation	SNP	C	C	T	rs375154247		TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr19:50939919C>T	ENST00000357701.5	+	5	442	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	131	Ig-like C2-type 1.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.R131C(1)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		ACTGGGGGACCGTGGGTATTA	0.622																																																	1	Substitution - Missense(1)	kidney(1)						C	CYS/ARG	2,4068		0,2,2033	104.0	102.0	103.0		391	2.2	1.0	19		103	0,8324		0,0,4162	no	missense	MYBPC2	NM_004533.3	180	0,2,6195	TT,TC,CC		0.0,0.0491,0.0161	probably-damaging	131/1142	50939919	2,12392	2035	4162	6197	SO:0001583	missense	4606				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.391C>T	19.37:g.50939919C>T	ENSP00000350332:p.Arg131Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	.	14.56	2.572297	0.45798	4.91E-4	0.0	ENSG00000086967	ENST00000357701	T	0.67698	-0.28	3.24	2.15	0.27550	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.480353	0.14618	U	0.308594	T	0.67230	0.2871	L	0.54323	1.7	0.37096	D	0.899668	P	0.51351	0.944	P	0.50617	0.646	T	0.71712	-0.4510	10	0.72032	D	0.01	.	8.8556	0.35225	0.5483:0.4517:0.0:0.0	.	131	Q14324	MYPC2_HUMAN	C	131	ENSP00000350332:R131C	ENSP00000350332:R131C	R	+	1	0	MYBPC2	55631731	0.996000	0.38824	0.986000	0.45419	0.535000	0.34838	1.338000	0.33873	0.911000	0.36747	0.450000	0.29827	CGT		0.622	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1		NM_004533	
NSMCE2	286053	hgsc.bcm.edu	37	8	126114663	126114664	+	Frame_Shift_Ins	INS	-	-	A	rs76206666		TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr8:126114663_126114664insA	ENST00000287437.3	+	3	307_308	c.91_92insA	c.(91-93)caafs	p.Q31fs	NSMCE2_ENST00000522563.1_Frame_Shift_Ins_p.Q31fs	NM_173685.2	NP_775956.1	Q96MF7	NSE2_HUMAN	non-SMC element 2, MMS21 homolog (S. cerevisiae)	31					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|protein sumoylation (GO:0016925)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			GAAAAACTTCCAAGCCTGTATC	0.406																																																	0																																										SO:0001589	frameshift_variant	286053			AK057002	CCDS6356.1	8q24.13	2013-01-28	2006-12-21	2006-07-05	ENSG00000156831	ENSG00000156831		"""Zinc fingers, MIZ-type"""	26513	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 7"""		"""chromosome 8 open reading frame 36"", ""non-SMC element 2 homolog (MMS21, S. cerevisiae)"""	C8orf36		12477932	Standard	NM_173685		Approved	FLJ32440, MMS21, NSE2, ZMIZ7	uc003yrw.2	Q96MF7	OTTHUMG00000164993	ENST00000287437.3:c.93dupA	8.37:g.126114665_126114665dupA	ENSP00000287437:p.Gln31fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N549	Frame_Shift_Ins	INS	ENST00000287437.3	37	CCDS6356.1																																																																																				0.406	NSMCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381378.1		NM_173685	
PAPOLG	64895	broad.mit.edu;ucsc.edu	37	2	60987314	60987314	+	Silent	SNP	T	T	C			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr2:60987314T>C	ENST00000238714.3	+	2	312	c.63T>C	c.(61-63)atT>atC	p.I21I		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	21					mRNA polyadenylation (GO:0006378)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)	p.I21I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			ATTATGGAATTACCTCCCCAA	0.348																																					GBM(183;1497 2932 21839 46797)												1	Substitution - coding silent(1)	kidney(1)											92.0	89.0	90.0					2																	60987314		2203	4300	6503	SO:0001819	synonymous_variant	64895			AC012498	CCDS1863.1	2p16.1	2008-02-08			ENSG00000115421	ENSG00000115421	2.7.7.19		14982	protein-coding gene	gene with protein product							Standard	NM_022894		Approved	FLJ12972	uc002sai.3	Q9BWT3	OTTHUMG00000129419	ENST00000238714.3:c.63T>C	2.37:g.60987314T>C		Somatic		WXS	Illumina GAIIx	Phase_I	B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0	Silent	SNP	ENST00000238714.3	37	CCDS1863.1																																																																																				0.348	PAPOLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251577.3		NM_022894	
PCDH15	65217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	55663098	55663099	+	Missense_Mutation	DNP	CC	CC	AA	rs202206172		TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr10:55663098_55663099CC>AA	ENST00000320301.6	-	26	3799_3800	c.3405_3406GG>TT	c.(3403-3408)caGGat>caTTat	p.1135_1136QD>HY	PCDH15_ENST00000361849.3_Missense_Mutation_p.1135_1136QD>HY|PCDH15_ENST00000395433.1_Missense_Mutation_p.1113_1114QD>HY|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.1064_1065QD>HY|PCDH15_ENST00000409834.1_Missense_Mutation_p.746_747QD>HY|PCDH15_ENST00000414778.1_Missense_Mutation_p.1140_1141QD>HY|PCDH15_ENST00000395445.1_Missense_Mutation_p.1142_1143QD>HY|PCDH15_ENST00000395432.2_Missense_Mutation_p.1098_1099QD>HY|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.1135_1136QD>HY|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.1142_1143QD>HY|PCDH15_ENST00000395438.1_Missense_Mutation_p.1135_1136QD>HY	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1135	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.Q1140H(2)|p.D1136Y(2)|p.D1141Y(2)|p.Q1135H(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTATTTTCATCCTGAATCTCAA	0.371										HNSCC(58;0.16)																																							8	Substitution - Missense(8)	kidney(8)																																								SO:0001583	missense	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3405_3406delinsAA	10.37:g.55663098_55663099delinsAA	ENSP00000322604:p.Q1135_D1136delinsHY	Somatic		WXS	Illumina HiSeq	Phase_I	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1																																																																																				0.371	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2		NM_033056	
PDE4C	5143	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	18328978	18328978	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr19:18328978G>T	ENST00000355502.3	-	15	2182	c.1311C>A	c.(1309-1311)aaC>aaA	p.N437K	PDE4C_ENST00000594465.3_Missense_Mutation_p.N437K|PDE4C_ENST00000594617.3_Missense_Mutation_p.N437K|PDE4C_ENST00000598111.2_Missense_Mutation_p.N152K|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000447275.3_Missense_Mutation_p.N331K|PDE4C_ENST00000539010.1_Missense_Mutation_p.N206K|PDE4C_ENST00000262805.12_Missense_Mutation_p.N405K|PDE4C_ENST00000597297.1_Missense_Mutation_p.N207K			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	437					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)	p.N437K(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	TCAGAAACTGGTTGGAGACCC	0.577																																																	1	Substitution - Missense(1)	kidney(1)											108.0	105.0	106.0					19																	18328978		2203	4300	6503	SO:0001583	missense	5143				CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"""Phosphodiesterases"""	8782	protein-coding gene	gene with protein product	"""phosphodiesterase E1 dunce homolog (Drosophila)"""	600128	"""phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"""	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.1311C>A	19.37:g.18328978G>T	ENSP00000347689:p.Asn437Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Missense_Mutation	SNP	ENST00000355502.3	37	CCDS12373.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.087972	0.55968	.	.	ENSG00000105650	ENST00000536045;ENST00000355502;ENST00000536507;ENST00000262805;ENST00000447275;ENST00000545961;ENST00000336173;ENST00000539010;ENST00000543547	D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53	4.61	2.43	0.29744	Metal-dependent phosphohydrolase, HD domain (1);-cyclic nucleotide phosphodiesterase, conserved site (1);5&apos (3);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (3);	0.051327	0.85682	D	0.000000	D	0.96122	0.8736	H	0.99249	4.485	0.38680	D	0.952515	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.932;0.984;0.994;0.999	D	0.93821	0.7119	10	0.87932	D	0	.	6.3833	0.21546	0.3261:0.0:0.6739:0.0	.	437;405;243;152	Q08493;Q08493-3;O43850;O76104	PDE4C_HUMAN;.;.;.	K	516;437;425;405;331;243;151;206;546	ENSP00000347689:N437K;ENSP00000262805:N405K;ENSP00000402091:N331K;ENSP00000439470:N206K	ENSP00000262805:N405K	N	-	3	2	PDE4C	18189978	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	0.834000	0.27518	0.358000	0.24211	0.313000	0.20887	AAC		0.577	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			
ECI2	10455	broad.mit.edu;ucsc.edu	37	6	4117641	4117641	+	Missense_Mutation	SNP	C	C	G	rs527578254		TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr6:4117641C>G	ENST00000380118.3	-	9	966	c.930G>C	c.(928-930)gaG>gaC	p.E310D	ECI2_ENST00000380125.2_Missense_Mutation_p.E280D|ECI2_ENST00000465828.1_Missense_Mutation_p.E280D|C6orf201_ENST00000380175.4_Intron|ECI2_ENST00000361538.2_Missense_Mutation_p.E280D|C6orf201_ENST00000430835.2_Intron|ECI2_ENST00000413766.2_Missense_Mutation_p.E143D|C6orf201_ENST00000333388.5_Intron			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	310	ECH-like.				fatty acid catabolic process (GO:0009062)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|fatty-acyl-CoA binding (GO:0000062)|receptor binding (GO:0005102)	p.E310D(1)|p.E280D(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						GAGCACATGCCTCTCCCGCTG	0.413																																																	2	Substitution - Missense(2)	kidney(2)											113.0	118.0	117.0					6																	4117641		2203	4300	6503	SO:0001583	missense	0			AF069301	CCDS4490.1, CCDS43420.1, CCDS43420.2	6p24.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000198721	ENSG00000198721			14601	protein-coding gene	gene with protein product	"""acyl-Coenzyme A binding domain containing 2"", "" Hepatocellular carcinoma-associated antigen 88"""	608024	"""peroxisomal D3,D2-enoyl-CoA isomerase"""	PECI		10419495	Standard	NM_206836		Approved	ACBD2, DRS1, HCA88	uc003mwf.3	O75521	OTTHUMG00000014158	ENST00000380118.3:c.930G>C	6.37:g.4117641C>G	ENSP00000369461:p.Glu310Asp	Somatic		WXS	Illumina GAIIx	Phase_I	Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Missense_Mutation	SNP	ENST00000380118.3	37	CCDS43420.2	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377232	0.61735	.	.	ENSG00000198721	ENST00000380118;ENST00000380125;ENST00000413766;ENST00000361538;ENST00000465828	T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53	6.16	1.7	0.24286	Crotonase, core (1);	0.194567	0.53938	N	0.000042	T	0.43656	0.1257	M	0.69463	2.115	0.44547	D	0.997506	P	0.46395	0.877	P	0.51324	0.666	T	0.38779	-0.9645	10	0.49607	T	0.09	.	7.9293	0.29893	0.0:0.3551:0.0:0.6449	.	310	O75521	ECI2_HUMAN	D	310;280;143;280;280	ENSP00000369461:E310D;ENSP00000369468:E280D;ENSP00000406969:E143D;ENSP00000354737:E280D;ENSP00000420309:E280D	ENSP00000354737:E280D	E	-	3	2	ECI2	4062640	1.000000	0.71417	0.902000	0.35471	0.768000	0.43524	1.326000	0.33735	0.063000	0.16370	-0.961000	0.02630	GAG		0.413	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039716.4		NM_006117	
PIRT	644139	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	10728777	10728777	+	Silent	SNP	G	G	A	rs555559126		TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr17:10728777G>A	ENST00000580256.2	-	2	824	c.186C>T	c.(184-186)ggC>ggT	p.G62G		NM_001101387.1	NP_001094857.1	P0C851	PIRT_HUMAN	phosphoinositide-interacting regulator of transient receptor potential channels	62						integral component of membrane (GO:0016021)		p.G62G(2)		endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						GGATGGCACCGCCCACTGACA	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		19700	0.001		0.0	False		,,,				2504	0.0																2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)											72.0	75.0	74.0					17																	10728777		2107	4215	6322	SO:0001819	synonymous_variant	644139			AK021549	CCDS45614.1	17p12	2010-06-04			ENSG00000233670	ENSG00000233670			37239	protein-coding gene	gene with protein product	"""phosphoinositide-interacting regulator of TRPV1"""	612068				18455988	Standard	NM_001101387		Approved		uc010col.3	P0C851		ENST00000580256.2:c.186C>T	17.37:g.10728777G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B7Z648	Silent	SNP	ENST00000580256.2	37	CCDS45614.1																																																																																				0.567	PIRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441078.2		NM_001101387	
PMS1	5378	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	190738266	190738266	+	Missense_Mutation	SNP	A	A	G	rs369909997		TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr2:190738266A>G	ENST00000441310.2	+	12	2751	c.2518A>G	c.(2518-2520)Aat>Gat	p.N840D	PMS1_ENST00000447232.2_Missense_Mutation_p.N678D|PMS1_ENST00000432292.3_Missense_Mutation_p.N664D|PMS1_ENST00000409823.3_Missense_Mutation_p.N801D|PMS1_ENST00000418224.3_Missense_Mutation_p.N664D	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	840					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)	p.N840D(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			AGGAATGGCTAATTGTCTCCC	0.303			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																															yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)		E	1	Substitution - Missense(1)	kidney(1)						A	ASP/ASN,ASP/ASN,ASP/ASN	0,4406		0,0,2203	45.0	50.0	48.0		2032,2401,2518	4.8	1.0	2		48	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense,missense	PMS1	NM_001128144.1,NM_001128143.1,NM_000534.4	23,23,23	0,1,6499	GG,GA,AA		0.0116,0.0,0.0077	benign,benign,benign	678/771,801/894,840/933	190738266	1,12999	2203	4297	6500	SO:0001583	missense	5378				CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.2518A>G	2.37:g.190738266A>G	ENSP00000406490:p.Asn840Asp	Somatic		WXS	Illumina HiSeq	Phase_I	D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	ENST00000441310.2	37	CCDS2302.1	.	.	.	.	.	.	.	.	.	.	A	12.13	1.844412	0.32606	0.0	1.16E-4	ENSG00000064933	ENST00000441310;ENST00000418224;ENST00000409823;ENST00000447232;ENST00000432292;ENST00000409593;ENST00000452382	D;D;D;D;D;D;T	0.96427	-2.33;-2.04;-2.5;-2.84;-2.04;-4.01;1.91	5.97	4.79	0.61399	.	0.321794	0.41194	D	0.000928	D	0.90092	0.6905	N	0.12182	0.205	0.26429	N	0.975979	B;B;P;B	0.46395	0.057;0.007;0.877;0.004	B;B;B;B	0.40741	0.01;0.003;0.339;0.002	T	0.82412	-0.0470	10	0.12766	T	0.61	-8.0473	13.1523	0.59496	0.8665:0.1335:0.0:0.0	.	463;801;678;840	Q5FBZ6;Q5FBZ3;Q5FBZ8;P54277	.;.;.;PMS1_HUMAN	D	840;664;801;678;664;463;228	ENSP00000406490:N840D;ENSP00000404492:N664D;ENSP00000387125:N801D;ENSP00000401064:N678D;ENSP00000398378:N664D;ENSP00000387169:N463D;ENSP00000396232:N228D	ENSP00000387169:N463D	N	+	1	0	PMS1	190446511	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.036000	0.57304	1.033000	0.39918	0.528000	0.53228	AAT		0.303	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2			
POLD1	5424	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	50906786	50906786	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr19:50906786G>A	ENST00000440232.2	+	10	1227	c.1174G>A	c.(1174-1176)Gtg>Atg	p.V392M	POLD1_ENST00000599857.1_Missense_Mutation_p.V392M|POLD1_ENST00000595904.1_Missense_Mutation_p.V392M	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	392					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.V392M(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)		GGACCCCGACGTGATCACCGG	0.607								DNA polymerases (catalytic subunits)																																									2	Substitution - Missense(2)	kidney(2)											251.0	214.0	226.0					19																	50906786		2203	4300	6503	SO:0001583	missense	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.1174G>A	19.37:g.50906786G>A	ENSP00000406046:p.Val392Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166628	0.57476	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.13089	2.62	3.84	2.8	0.32819	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.149824	0.44902	N	0.000413	T	0.21307	0.0513	L	0.60904	1.88	0.36617	D	0.87551	P;P	0.51537	0.946;0.946	P;P	0.54924	0.764;0.679	T	0.08911	-1.0699	10	0.66056	D	0.02	-27.567	5.6532	0.17629	0.3261:0.0:0.6739:0.0	.	392;392	E7EVW0;P28340	.;DPOD1_HUMAN	M	392;393	ENSP00000406046:V392M	ENSP00000366129:V393M	V	+	1	0	POLD1	55598598	1.000000	0.71417	0.701000	0.30321	0.655000	0.38815	4.235000	0.58666	0.948000	0.37687	0.561000	0.74099	GTG		0.607	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			
PRDM15	63977	broad.mit.edu	37	21	43230601	43230601	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr21:43230601T>A	ENST00000269844.3	-	28	3769	c.3659A>T	c.(3658-3660)gAc>gTc	p.D1220V	PRDM15_ENST00000398548.1_Missense_Mutation_p.D891V|PRDM15_ENST00000447207.2_Missense_Mutation_p.D854V|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000538201.1_Missense_Mutation_p.D874V|PRDM15_ENST00000422911.1_Missense_Mutation_p.D911V	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1220					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.D1220V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CTCCACCTTGTCGTGTGTGAG	0.617																																																	1	Substitution - Missense(1)	kidney(1)											113.0	70.0	85.0					21																	43230601		2203	4300	6503	SO:0001583	missense	63977			AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.3659A>T	21.37:g.43230601T>A	ENSP00000269844:p.Asp1220Val	Somatic		WXS	Illumina GAIIx	Phase_I	E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	t	21.6	4.168752	0.78339	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	T;T;T;T;T	0.08458	4.79;4.79;4.79;4.79;3.09	3.96	3.96	0.45880	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13329	0.0323	N	0.25332	0.735	0.80722	D	1	D;D;D	0.65815	0.995;0.988;0.995	P;P;P	0.58721	0.795;0.676;0.844	T	0.03325	-1.1048	9	0.54805	T	0.06	-34.8939	12.0092	0.53278	0.0:0.0:0.0:1.0	.	1220;911;891	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	V	911;891;874;854;1220	ENSP00000408592:D911V;ENSP00000381556:D891V;ENSP00000444044:D874V;ENSP00000390245:D854V;ENSP00000269844:D1220V	ENSP00000269844:D1220V	D	-	2	0	PRDM15	42103670	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.744000	0.85034	1.432000	0.47375	0.255000	0.18592	GAC		0.617	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_022115	
PTBP1	5725	hgsc.bcm.edu	37	19	808433	808433	+	Silent	SNP	C	C	T			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr19:808433C>T	ENST00000349038.4	+	11	1222	c.1149C>T	c.(1147-1149)gaC>gaT	p.D383D	PTBP1_ENST00000356948.6_Silent_p.D409D|PTBP1_ENST00000350092.4_Silent_p.D49D|PTBP1_ENST00000394601.4_Silent_p.D402D	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	383	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGATGGCGGACGGCAACCAGG	0.682																																																	0													22.0	20.0	21.0					19																	808433		2194	4296	6490	SO:0001819	synonymous_variant	5725			X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"""RNA binding motif (RRM) containing"""	9583	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein I"""	600693	"""polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"""	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.1149C>T	19.37:g.808433C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q9BUQ0	Silent	SNP	ENST00000349038.4	37	CCDS32859.1																																																																																				0.682	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1			
RCC1	1104	broad.mit.edu;hgsc.bcm.edu	37	1	28862846	28862846	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr1:28862846T>A	ENST00000373833.6	+	11	1175	c.890T>A	c.(889-891)gTg>gAg	p.V297E	RCC1_ENST00000398958.2_Missense_Mutation_p.V297E|RCC1_ENST00000373832.1_Missense_Mutation_p.V297E|RCC1_ENST00000373831.3_Missense_Mutation_p.V328E			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	297					chromosome segregation (GO:0007059)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of Ran GTPase activity (GO:0032853)|regulation of mitosis (GO:0007088)|spindle assembly (GO:0051225)|viral process (GO:0016032)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosomal DNA binding (GO:0031492)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.V297E(1)|p.V328E(1)		breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		AAGTCCTGGGTGGGCTTCTCT	0.562																																																	2	Substitution - Missense(2)	kidney(2)											126.0	129.0	128.0					1																	28862846		2203	4300	6503	SO:0001583	missense	1104			X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198			1913	protein-coding gene	gene with protein product		179710	"""chromosome condensation 1"""	CHC1		7851910	Standard	NM_001048199		Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373833.6:c.890T>A	1.37:g.28862846T>A	ENSP00000362939:p.Val297Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q16269|Q6NT97	Missense_Mutation	SNP	ENST00000373833.6	37	CCDS323.1	.	.	.	.	.	.	.	.	.	.	T	19.41	3.823077	0.71143	.	.	ENSG00000180198	ENST00000398958;ENST00000373833;ENST00000373832;ENST00000373831;ENST00000411533	D;D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15;-2.15	5.8	5.8	0.92144	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.171138	0.50627	D	0.000108	D	0.92799	0.7710	M	0.79123	2.44	0.80722	D	1	B;D;D	0.54772	0.028;0.968;0.961	B;D;D	0.65684	0.074;0.937;0.914	D	0.93094	0.6502	10	0.54805	T	0.06	-15.3774	14.9715	0.71238	0.0:0.0:0.0:1.0	.	328;314;297	P18754-2;E9PAT9;P18754	.;.;RCC1_HUMAN	E	297;297;297;328;314	ENSP00000381931:V297E;ENSP00000362939:V297E;ENSP00000362938:V297E;ENSP00000362937:V328E;ENSP00000413644:V314E	ENSP00000362937:V328E	V	+	2	0	RCC1	28735433	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.619000	0.83057	2.212000	0.71576	0.533000	0.62120	GTG		0.562	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010323.3		NM_001269	
RRP12	23223	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	99156039	99156040	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr10:99156039_99156040GC>TT	ENST00000370992.4	-	3	499_500	c.388_389GC>AA	c.(388-390)GCt>AAt	p.A130N	RRP12_ENST00000414986.1_Missense_Mutation_p.A130N|RRP12_ENST00000315563.6_Missense_Mutation_p.A130N	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	130						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.A130D(1)|p.A130T(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CTCAGTGACAGCAGCCAGAACA	0.569																																																	2	Substitution - Missense(2)	kidney(2)																																								SO:0001583	missense	23223				CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.388_389delinsTT	10.37:g.99156039_99156040delinsTT	ENSP00000360031:p.Ala130Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	CCDS7457.1																																																																																				0.569	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4		NM_015179	
SAMD14	201191	broad.mit.edu	37	17	48191586	48191586	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr17:48191586A>G	ENST00000330175.4	-	8	1224	c.907T>C	c.(907-909)Tac>Cac	p.Y303H	SAMD14_ENST00000503734.1_5'Flank|SAMD14_ENST00000503131.1_Missense_Mutation_p.Y331H	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	303								p.Y331H(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						TGGTAGGGGTAAGAACATTTG	0.592																																																	1	Substitution - Missense(1)	kidney(1)											69.0	67.0	68.0					17																	48191586		2203	4300	6503	SO:0001583	missense	201191				CCDS11560.1, CCDS58562.1	17q21.33	2013-01-10				ENSG00000167100		"""Sterile alpha motif (SAM) domain containing"""	27312	protein-coding gene	gene with protein product						8619474	Standard	NM_174920		Approved	FLJ36890	uc002iqg.4	Q8IZD0		ENST00000330175.4:c.907T>C	17.37:g.48191586A>G	ENSP00000329144:p.Tyr303His	Somatic		WXS	Illumina GAIIx	Phase_I	A5D8V1|Q8N2X0	Missense_Mutation	SNP	ENST00000330175.4	37	CCDS58562.1	.	.	.	.	.	.	.	.	.	.	A	17.82	3.482585	0.63962	.	.	ENSG00000167100	ENST00000330175;ENST00000285206;ENST00000503131	.	.	.	5.24	5.24	0.73138	.	0.101878	0.39687	N	0.001292	T	0.54951	0.1890	L	0.44542	1.39	0.35109	D	0.765997	B;D	0.59767	0.004;0.986	B;P	0.54100	0.006;0.742	T	0.62676	-0.6804	9	0.26408	T	0.33	-12.5569	12.6764	0.56897	1.0:0.0:0.0:0.0	.	303;331	Q8IZD0;Q8IZD0-2	SAM14_HUMAN;.	H	303;315;331	.	ENSP00000285206:Y315H	Y	-	1	0	SAMD14	45546585	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	2.733000	0.47360	1.983000	0.57843	0.459000	0.35465	TAC		0.592	SAMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366661.1		NM_174920	
SIGLEC8	27181	broad.mit.edu;hgsc.bcm.edu	37	19	51958703	51958703	+	Silent	SNP	G	G	A			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr19:51958703G>A	ENST00000321424.3	-	4	1086	c.1020C>T	c.(1018-1020)tcC>tcT	p.S340S	SIGLEC8_ENST00000340550.5_Silent_p.S247S|SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000430817.1_Silent_p.S231S	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	340	Ig-like C2-type 2.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.S340S(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGAGGCTCAGGGAAATGTGCT	0.632																																																	1	Substitution - coding silent(1)	kidney(1)											52.0	50.0	51.0					19																	51958703		2203	4300	6503	SO:0001819	synonymous_variant	27181			AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.1020C>T	19.37:g.51958703G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z728	Silent	SNP	ENST00000321424.3	37	CCDS33086.1																																																																																				0.632	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2		NM_014442	
SLC22A20	440044	hgsc.bcm.edu	37	11	64988531	64988531	+	RNA	SNP	C	C	T			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr11:64988531C>T	ENST00000525437.1	+	0	737							A6NK97	S22AK_HUMAN	solute carrier family 22, member 20						ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						ATTCCTTCACCCTGGGCCAGC	0.572																																																	0													74.0	69.0	71.0					11																	64988531		692	1591	2283			440044			DQ053017		11q13.1	2014-02-20			ENSG00000197847	ENSG00000197847		"""Solute carriers"""	29867	other	unknown		611696				15369770, 16478971	Standard	NM_001004326		Approved	Oat6, FLJ16331	uc021qlh.1	A6NK97	OTTHUMG00000165615		11.37:g.64988531C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B9EJB2|Q6ZN88	RNA	SNP	ENST00000525437.1	37																																																																																					0.572	SLC22A20-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000385336.1		NM_001004326	
SLC29A3	55315	broad.mit.edu	37	10	73121852	73121852	+	Silent	SNP	G	G	A			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr10:73121852G>A	ENST00000373189.5	+	6	967	c.915G>A	c.(913-915)acG>acA	p.T305T	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	305					transmembrane transport (GO:0055085)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleoside transmembrane transporter activity (GO:0005337)	p.T305T(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						TGAAGAAGACGGCCAGCCTGG	0.592																																					Esophageal Squamous(200;1319 2142 18949 31248 39672)												1	Substitution - coding silent(1)	kidney(1)											120.0	126.0	124.0					10																	73121852		2203	4300	6503	SO:0001819	synonymous_variant	55315			AF326987	CCDS7310.1	10q22.2	2013-07-17	2013-07-17		ENSG00000198246	ENSG00000198246		"""Solute carriers"""	23096	protein-coding gene	gene with protein product		612373	"""solute carrier family 29 (nucleoside transporters), member 3"""			11396612	Standard	NM_018344		Approved	ENT3, FLJ11160	uc001jrr.4	Q9BZD2	OTTHUMG00000018424	ENST00000373189.5:c.915G>A	10.37:g.73121852G>A		Somatic		WXS	Illumina GAIIx	Phase_I	B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9	Silent	SNP	ENST00000373189.5	37	CCDS7310.1																																																																																				0.592	SLC29A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048544.1		NM_018344	
SLC45A2	51151	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	33951772	33951772	+	Missense_Mutation	SNP	C	C	T	rs554113064		TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr5:33951772C>T	ENST00000296589.4	-	5	1189	c.1043G>A	c.(1042-1044)cGc>cAc	p.R348H	SLC45A2_ENST00000342059.3_Missense_Mutation_p.R289H|SLC45A2_ENST00000382102.3_Missense_Mutation_p.R348H|SLC45A2_ENST00000509381.1_Silent_p.P239P|SLC45A2_ENST00000345083.5_Missense_Mutation_p.R240H	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	348			R -> C (in OCA4). {ECO:0000269|PubMed:17768386}.		developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.R348H(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						GGGATCCCCGCGGTACACAAT	0.493																																					Ovarian(31;380 859 8490 22203 49048)												2	Substitution - Missense(2)	endometrium(1)|kidney(1)											143.0	132.0	136.0					5																	33951772		2203	4300	6503	SO:0001583	missense	51151			AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.1043G>A	5.37:g.33951772C>T	ENSP00000296589:p.Arg348His	Somatic		WXS	Illumina HiSeq	Phase_I	Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000296589.4	37	CCDS3901.1	.	.	.	.	.	.	.	.	.	.	C	0.043	-1.278395	0.01410	.	.	ENSG00000164175	ENST00000296589;ENST00000342059;ENST00000382102;ENST00000510600;ENST00000345083	T;T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38;-1.38	5.91	0.645	0.17782	Major facilitator superfamily domain, general substrate transporter (1);	0.558716	0.21419	N	0.074848	T	0.42337	0.1198	N	0.00210	-1.845	0.09310	N	0.999996	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.48364	-0.9042	10	0.18710	T	0.47	0.0115	10.1285	0.42665	0.0:0.2317:0.0:0.7683	.	348;348	Q9UMX9-4;Q9UMX9	.;S45A2_HUMAN	H	348;289;348;173;240	ENSP00000296589:R348H;ENSP00000341014:R289H;ENSP00000371534:R348H;ENSP00000424010:R173H;ENSP00000340444:R240H	ENSP00000296589:R348H	R	-	2	0	SLC45A2	33987529	0.673000	0.27539	0.022000	0.16811	0.069000	0.16628	0.984000	0.29565	-0.052000	0.13311	-0.290000	0.09829	CGC		0.493	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2		NM_016180	
STX10	8677	broad.mit.edu	37	19	13260325	13260325	+	Silent	SNP	T	T	C			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr19:13260325T>C	ENST00000587230.1	-	3	352	c.288A>G	c.(286-288)cgA>cgG	p.R96R	STX10_ENST00000242770.5_Silent_p.R96R|STX10_ENST00000343587.5_Intron|IER2_ENST00000587885.1_5'Flank|IER2_ENST00000588173.1_5'Flank|IER2_ENST00000292433.3_5'Flank|STX10_ENST00000589083.1_Silent_p.R96R	NM_001271609.1	NP_001258538.1	O60499	STX10_HUMAN	syntaxin 10	96					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion (GO:0006906)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)	p.R96R(1)		breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			GGACTGCCTCTCGCATCCGCT	0.507																																																	1	Substitution - coding silent(1)	kidney(1)											70.0	73.0	72.0					19																	13260325		2203	4300	6503	SO:0001819	synonymous_variant	8677			AF035531	CCDS32922.1, CCDS62569.1, CCDS62570.1, CCDS62571.1	19p13.13	2008-07-22				ENSG00000104915			11428	protein-coding gene	gene with protein product		603765				9446797	Standard	NM_003765		Approved	hsyn10, SYN10	uc021upq.2	O60499		ENST00000587230.1:c.288A>G	19.37:g.13260325T>C		Somatic		WXS	Illumina GAIIx	Phase_I	A6NC41|Q6IAP4|Q96AE8	Silent	SNP	ENST00000587230.1	37	CCDS32922.1																																																																																				0.507	STX10-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452918.1		NM_003765	
STX19	415117	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	93733283	93733283	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr3:93733283T>G	ENST00000315099.2	-	2	1087	c.831A>C	c.(829-831)agA>agC	p.R277S	ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000394222.3_Intron|ARL13B_ENST00000486562.1_Intron	NM_001001850.2	NP_001001850.1	Q8N4C7	STX19_HUMAN	syntaxin 19	277					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)		p.R277S(1)		kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						TGCAAGGATTTCTTTTTTTGT	0.328																																																	1	Substitution - Missense(1)	kidney(1)											54.0	53.0	53.0					3																	93733283		2202	4296	6498	SO:0001583	missense	415117			AF461456	CCDS33793.1	3q11	2005-12-30			ENSG00000178750	ENSG00000178750			19300	protein-coding gene	gene with protein product							Standard	NM_001001850		Approved	MGC21382	uc003drh.1	Q8N4C7	OTTHUMG00000159013	ENST00000315099.2:c.831A>C	3.37:g.93733283T>G	ENSP00000320679:p.Arg277Ser	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000315099.2	37	CCDS33793.1	.	.	.	.	.	.	.	.	.	.	T	13.06	2.124637	0.37533	.	.	ENSG00000178750	ENST00000315099	T	0.44881	0.91	5.04	5.04	0.67666	.	0.230608	0.47852	D	0.000206	T	0.32164	0.0820	L	0.34521	1.04	0.39297	D	0.964833	B	0.32245	0.361	B	0.28139	0.086	T	0.16689	-1.0394	10	0.27785	T	0.31	.	15.4866	0.75573	0.0:0.0:0.0:1.0	.	277	Q8N4C7	STX19_HUMAN	S	277	ENSP00000320679:R277S	ENSP00000320679:R277S	R	-	3	2	STX19	95215973	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.721000	0.38032	2.199000	0.70637	0.528000	0.53228	AGA		0.328	STX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352909.1		NM_001001850	
SYT12	91683	broad.mit.edu;hgsc.bcm.edu	37	11	66813240	66813240	+	Silent	SNP	G	G	T			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr11:66813240G>T	ENST00000393946.2	+	10	2146	c.984G>T	c.(982-984)ctG>ctT	p.L328L	SYT12_ENST00000525457.1_Silent_p.L328L|SYT12_ENST00000527043.1_Silent_p.L328L			Q8IV01	SYT12_HUMAN	synaptotagmin XII	328	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|synapse (GO:0045202)		p.L328L(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						TGTACCTGCTGCAGGATGGGA	0.587																																					Ovarian(65;2862 3307)												1	Substitution - coding silent(1)	kidney(1)											83.0	68.0	73.0					11																	66813240		2200	4295	6495	SO:0001819	synonymous_variant	91683			AK024280	CCDS8154.1	11q13.2	2014-07-02			ENSG00000173227	ENSG00000173227		"""Synaptotagmins"""	18381	protein-coding gene	gene with protein product		606436				8987811	Standard	NM_177963		Approved	SRG1	uc001oju.3	Q8IV01	OTTHUMG00000167101	ENST00000393946.2:c.984G>T	11.37:g.66813240G>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000393946.2	37	CCDS8154.1																																																																																				0.587	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393129.1		NM_177963	
TADA2A	6871	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	35804809	35804809	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr17:35804809T>G	ENST00000394395.2	+	8	716	c.543T>G	c.(541-543)aaT>aaG	p.N181K	TADA2A_ENST00000225396.6_Missense_Mutation_p.N181K|TADA2A_ENST00000417170.1_Missense_Mutation_p.N181K|TADA2A_ENST00000586023.1_Missense_Mutation_p.N181K|TADA2A_ENST00000591992.1_3'UTR	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	181					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)	p.N181K(2)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						AATTTGACAATTATGCAGAAT	0.388																																																	2	Substitution - Missense(2)	kidney(2)											216.0	208.0	211.0					17																	35804809		2203	4300	6503	SO:0001583	missense	6871			AK022767	CCDS11319.1, CCDS45656.1	17q12-q21	2014-04-10	2009-10-02	2009-10-02	ENSG00000108264	ENSG00000276234			11531	protein-coding gene	gene with protein product		602276	"""transcriptional adaptor 2 (ADA2 homolog, yeast)-like"""	TADA2L		8552087	Standard	XM_006722043		Approved	ADA2, hADA2, ADA2A	uc002hnt.3	O75478	OTTHUMG00000188469	ENST00000394395.2:c.543T>G	17.37:g.35804809T>G	ENSP00000377918:p.Asn181Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A8MVD0|B3KMU9|Q9BVJ0|Q9UCW2|Q9UP49	Missense_Mutation	SNP	ENST00000394395.2	37	CCDS11319.1	.	.	.	.	.	.	.	.	.	.	T	19.83	3.900610	0.72754	.	.	ENSG00000108264	ENST00000394395;ENST00000428846;ENST00000225396;ENST00000417170	T;T;T	0.48201	0.82;0.82;0.82	5.93	3.7	0.42460	.	0.000000	0.85682	D	0.000000	T	0.70124	0.3188	M	0.90483	3.12	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.986	T	0.73164	-0.4069	10	0.66056	D	0.02	-25.5788	8.6674	0.34130	0.0:0.2826:0.0:0.7174	.	181;181	O75478-2;O75478	.;TAD2A_HUMAN	K	181;80;181;181	ENSP00000377918:N181K;ENSP00000225396:N181K;ENSP00000406699:N181K	ENSP00000225396:N181K	N	+	3	2	TADA2A	32878922	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.707000	0.37888	1.074000	0.40909	0.533000	0.62120	AAT		0.388	TADA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256677.3		NM_001488	
TCF20	6942	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	42609019	42609019	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr22:42609019C>A	ENST00000359486.3	-	1	2429	c.2293G>T	c.(2293-2295)Gac>Tac	p.D765Y	TCF20_ENST00000404876.1_5'Flank|TCF20_ENST00000335626.4_Missense_Mutation_p.D765Y	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	765					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.D765Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TATCTCCTGTCAGGGTGGTGG	0.483																																																	1	Substitution - Missense(1)	kidney(1)											107.0	87.0	94.0					22																	42609019		2203	4300	6503	SO:0001583	missense	6942			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.2293G>T	22.37:g.42609019C>A	ENSP00000352463:p.Asp765Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.111465	0.56398	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.69806	-0.43;-0.42	5.83	5.83	0.93111	.	0.071162	0.64402	D	0.000019	T	0.73118	0.3546	N	0.19112	0.55	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73380	0.98;0.956	T	0.76528	-0.2926	10	0.87932	D	0	-22.9396	20.1208	0.97960	0.0:1.0:0.0:0.0	.	765;765	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	Y	765	ENSP00000352463:D765Y;ENSP00000335561:D765Y	ENSP00000335561:D765Y	D	-	1	0	TCF20	40938963	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.736000	0.68597	2.758000	0.94735	0.655000	0.94253	GAC		0.483	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1		NM_181492	
THSD7B	80731	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	138330034	138330034	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr2:138330034G>A	ENST00000409968.1	+	17	3509	c.3331G>A	c.(3331-3333)Gat>Aat	p.D1111N	THSD7B_ENST00000413152.2_Missense_Mutation_p.D1083N|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.D1114N			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1113	TSP type-1 13. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.D1083N(1)|p.D1114N(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTGCAACCAGGATGAAATTCC	0.453																																																	2	Substitution - Missense(2)	kidney(2)											99.0	102.0	101.0					2																	138330034		1966	4149	6115	SO:0001583	missense	80731					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.3331G>A	2.37:g.138330034G>A	ENSP00000387145:p.Asp1111Asn	Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000409968.1	37		.	.	.	.	.	.	.	.	.	.	G	9.781	1.175220	0.21704	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.22539	2.48;2.33;1.95	5.0	-0.271	0.12922	.	0.495783	0.23215	N	0.050623	T	0.09992	0.0245	N	0.20357	0.565	0.80722	D	1	B	0.27380	0.177	B	0.31495	0.131	T	0.21314	-1.0249	10	0.23302	T	0.38	.	2.4829	0.04592	0.1382:0.3416:0.2897:0.2305	.	1083	C9JKN6	.	N	1111;1114;1083	ENSP00000387145:D1111N;ENSP00000272643:D1114N;ENSP00000413841:D1083N	ENSP00000272643:D1114N	D	+	1	0	THSD7B	138046504	1.000000	0.71417	0.417000	0.26559	0.008000	0.06430	2.098000	0.41757	-0.032000	0.13758	-0.189000	0.12847	GAT		0.453	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2		XM_046570.9	
TMEM50B	757	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	34841149	34841149	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr21:34841149C>T	ENST00000542230.2	-	2	258	c.44G>A	c.(43-45)tGt>tAt	p.C15Y		NM_006134.6	NP_006125.2	P56557	TM50B_HUMAN	transmembrane protein 50B	15						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.C15Y(1)		breast(1)|kidney(1)|ovary(1)|skin(1)	4						CCAGTCAATACATTCACATTC	0.383																																																	1	Substitution - Missense(1)	kidney(1)											143.0	129.0	134.0					21																	34841149		2203	4300	6503	SO:0001583	missense	757			AF045606	CCDS13625.1	21q22.1	2008-07-29	2005-06-02	2005-06-02	ENSG00000142188	ENSG00000142188			1280	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 4"""	C21orf4			Standard	NR_040016		Approved		uc002yrs.2	P56557	OTTHUMG00000065286	ENST00000542230.2:c.44G>A	21.37:g.34841149C>T	ENSP00000439768:p.Cys15Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	B2R4L4|D3DSF1|O60537|Q5PY47	Missense_Mutation	SNP	ENST00000542230.2	37	CCDS13625.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.462239	0.84425	.	.	ENSG00000142188	ENST00000542230;ENST00000440644;ENST00000432504;ENST00000435619	T;T	0.29397	1.57;1.57	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.51770	0.1694	L	0.54323	1.7	0.80722	D	1	D	0.71674	0.998	D	0.67382	0.951	T	0.43163	-0.9408	10	0.51188	T	0.08	-35.2127	18.7918	0.91976	0.0:1.0:0.0:0.0	.	15	P56557	TM50B_HUMAN	Y	15	ENSP00000439768:C15Y;ENSP00000387622:C15Y	ENSP00000371390:C15Y	C	-	2	0	TMEM50B	33763019	1.000000	0.71417	0.835000	0.33067	0.965000	0.64279	6.621000	0.74228	2.730000	0.93505	0.655000	0.94253	TGT		0.383	TMEM50B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140080.5			
TP63	8626	broad.mit.edu;ucsc.edu	37	3	189608582	189608582	+	Silent	SNP	T	T	C			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr3:189608582T>C	ENST00000264731.3	+	13	1746	c.1657T>C	c.(1657-1659)Tta>Cta	p.L553L	TP63_ENST00000449992.1_Silent_p.L374L|TP63_ENST00000320472.5_Intron|TP63_ENST00000354600.5_Silent_p.L459L|TP63_ENST00000440651.2_Silent_p.L549L|TP63_ENST00000392463.2_Intron|TP63_ENST00000456148.1_Silent_p.L455L|TP63_ENST00000382063.4_Silent_p.L468L|TP63_ENST00000392461.3_Intron|TP63_ENST00000392460.3_Intron	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	553	SAM.		L -> F (in AEC). {ECO:0000269|PubMed:11159940}.		apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)	p.L553L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CTGCAGTTTCTTAGCGAGGTT	0.468										HNSCC(45;0.13)																																							1	Substitution - coding silent(1)	kidney(1)	GRCh37	CM010361	TP63	M							91.0	80.0	84.0					3																	189608582		2203	4300	6503	SO:0001819	synonymous_variant	8626			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1657T>C	3.37:g.189608582T>C		Somatic		WXS	Illumina GAIIx	Phase_I	O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Silent	SNP	ENST00000264731.3	37	CCDS3293.1																																																																																				0.468	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1		NM_003722	
ULK2	9706	broad.mit.edu;ucsc.edu	37	17	19705159	19705159	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr17:19705159C>T	ENST00000395544.4	-	16	1871	c.1372G>A	c.(1372-1374)Gac>Aac	p.D458N	ULK2_ENST00000361658.2_Missense_Mutation_p.D458N|ULK2_ENST00000580130.1_5'UTR	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	458					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D458N(1)		large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TGTGCTGTGTCTGCTGGTACT	0.498																																																	1	Substitution - Missense(1)	kidney(1)											185.0	184.0	184.0					17																	19705159		2203	4300	6503	SO:0001583	missense	9706			AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"""unc-51 (C. elegans)-like kinase 2"", ""unc-51-like kinase 2 (C. elegans)"""			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.1372G>A	17.37:g.19705159C>T	ENSP00000378914:p.Asp458Asn	Somatic		WXS	Illumina GAIIx	Phase_I	A8MY69|O75119	Missense_Mutation	SNP	ENST00000395544.4	37	CCDS11213.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419721	0.83559	.	.	ENSG00000083290	ENST00000361658;ENST00000395544	T;T	0.40476	1.03;1.03	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.43523	0.1251	L	0.60455	1.87	0.58432	D	0.999992	B	0.21606	0.058	B	0.14578	0.011	T	0.19095	-1.0316	10	0.34782	T	0.22	-19.4268	19.0427	0.93008	0.0:1.0:0.0:0.0	.	458	Q8IYT8	ULK2_HUMAN	N	458	ENSP00000354877:D458N;ENSP00000378914:D458N	ENSP00000354877:D458N	D	-	1	0	ULK2	19645751	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.261000	0.78400	2.748000	0.94277	0.655000	0.94253	GAC		0.498	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132375.2		NM_014683	
RP11-184A2.3	0	broad.mit.edu	37	10	3791260	3791260	+	RNA	DEL	A	A	-			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr10:3791260delA	ENST00000421629.2	+	0	0																											CCACATTATGAAAAAAAATAT	0.463																																																	0																																												0																															10.37:g.3791260delA		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	DEL	ENST00000421629.2	37																																																																																					0.463	RP11-184A2.3-001	KNOWN	basic	antisense	antisense	OTTHUMT00000046494.2			
SMG1P7	100506060	broad.mit.edu	37	16	70268081	70268081	+	RNA	SNP	G	G	A			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr16:70268081G>A	ENST00000459379.1	-	0	0																											TCTTACTGTTGGCTAAAAGGC	0.373																																																	0																																												0																															16.37:g.70268081G>A		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000459379.1	37																																																																																					0.373	snoU13.216-201	NOVEL	basic	snoRNA	snoRNA				
LOC100505782	100505782	broad.mit.edu	37	17	39566058	39566058	+	RNA	SNP	A	A	C			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr17:39566058A>C	ENST00000432258.1	+	0	1472				AC003958.2_ENST00000430006.1_RNA																							TCCCCATCCAACCCCAACTCT	0.512																																																	0																																												0																															17.37:g.39566058A>C		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000432258.1	37																																																																																					0.512	AC003958.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000257900.2			
Unknown	0	broad.mit.edu	37	21	9769054	9769054	+	IGR	SNP	G	G	A	rs375117691		TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr21:9769054G>A								CR381670.1 (85782 upstream) : MIR3648 (56777 downstream)																							TTGATAACAAGAACAGCATTC	0.333																																																	0																																										SO:0001628	intergenic_variant	0																															21.37:g.9769054G>A		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP		37																																																																																				0	0.333									
USP15	9958	broad.mit.edu;hgsc.bcm.edu	37	12	62798002	62798002	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr12:62798002G>C	ENST00000280377.5	+	22	2851	c.2793G>C	c.(2791-2793)caG>caC	p.Q931H	USP15_ENST00000353364.3_Missense_Mutation_p.Q902H|USP15_ENST00000393654.3_Missense_Mutation_p.Q906H	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	931	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.Q902H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TCTTCTACCAGAGACAAGACA	0.378																																					Melanoma(181;615 2041 39364 49691 50001)												1	Substitution - Missense(1)	kidney(1)											147.0	146.0	147.0					12																	62798002		2203	4300	6503	SO:0001583	missense	9958			AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.2793G>C	12.37:g.62798002G>C	ENSP00000280377:p.Gln931His	Somatic		WXS	Illumina HiSeq	Phase_I	Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.345333	0.41498	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.32515	4.01;4.01;1.45	5.51	5.51	0.81932	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.000000	0.85682	D	0.000000	T	0.43456	0.1248	L	0.36672	1.1	0.54753	D	0.999989	D;D	0.89917	1.0;0.998	D;D	0.78314	0.991;0.957	T	0.12293	-1.0553	9	.	.	.	-5.0639	12.7199	0.57136	0.0751:0.0:0.9249:0.0	.	931;902	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	H	902;931;906	ENSP00000258123:Q902H;ENSP00000280377:Q931H;ENSP00000377264:Q906H	.	Q	+	3	2	USP15	61084269	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.709000	0.74665	2.589000	0.87451	0.650000	0.86243	CAG		0.378	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2		NM_006313	
USP8	9101	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	50791105	50791105	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr15:50791105C>G	ENST00000396444.3	+	20	3515	c.3177C>G	c.(3175-3177)caC>caG	p.H1059Q	RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000433963.1_Missense_Mutation_p.H1059Q|USP8_ENST00000307179.4_Missense_Mutation_p.H1059Q|USP8_ENST00000425032.3_Missense_Mutation_p.H953Q|USP50_ENST00000530218.1_5'Flank|RP11-562A8.4_ENST00000560380.1_RNA	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	1059	USP.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.H1059Q(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CACAGAATCACTACGGTGGGC	0.358																																																	1	Substitution - Missense(1)	kidney(1)											75.0	75.0	75.0					15																	50791105		2196	4294	6490	SO:0001583	missense	9101			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.3177C>G	15.37:g.50791105C>G	ENSP00000379721:p.His1059Gln	Somatic		WXS	Illumina HiSeq	Phase_I	B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	ENST00000396444.3	37	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405166	0.62288	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032;ENST00000419830;ENST00000396440	T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6	5.64	3.77	0.43336	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.87744	0.6254	H	0.96996	3.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88413	0.3023	10	0.87932	D	0	-12.8234	9.1177	0.36769	0.0:0.7236:0.0:0.2764	.	953;1059	B4DKA8;P40818	.;UBP8_HUMAN	Q	1059;1059;1059;953;277;272	ENSP00000379721:H1059Q;ENSP00000405537:H1059Q;ENSP00000302239:H1059Q;ENSP00000412682:H953Q	ENSP00000302239:H1059Q	H	+	3	2	USP8	48578397	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.718000	0.38001	0.859000	0.35456	0.591000	0.81541	CAC		0.358	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1		NM_005154	
VN1R2	317701	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	53762336	53762336	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr19:53762336C>A	ENST00000341702.3	+	1	792	c.708C>A	c.(706-708)agC>agA	p.S236R		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	236					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.S236R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		GCAAATGGAGCAACAACAACA	0.423																																																	1	Substitution - Missense(1)	kidney(1)											85.0	80.0	82.0					19																	53762336		2203	4300	6503	SO:0001583	missense	317701			AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.708C>A	19.37:g.53762336C>A	ENSP00000351244:p.Ser236Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	C	6.929	0.541113	0.13250	.	.	ENSG00000196131	ENST00000341702	T	0.09817	2.94	2.94	-0.606	0.11619	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.09024	0.0223	L	0.49126	1.545	0.09310	N	1	B	0.23442	0.085	B	0.26094	0.066	T	0.38779	-0.9645	9	0.45353	T	0.12	.	1.6757	0.02821	0.3662:0.3412:0.1793:0.1132	.	236	Q8NFZ6	VN1R2_HUMAN	R	236	ENSP00000351244:S236R	ENSP00000351244:S236R	S	+	3	2	VN1R2	58454148	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-1.660000	0.01974	-0.000000	0.14550	0.596000	0.82720	AGC		0.423	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1		NM_173856	
WDFY3	23001	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	85642627	85642627	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr4:85642627A>T	ENST00000295888.4	-	47	7947	c.7540T>A	c.(7540-7542)Tcc>Acc	p.S2514T	WDFY3_ENST00000322366.6_Missense_Mutation_p.S2497T	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2514	Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.S2514T(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCTTCTATGGAGCTGCCCTCA	0.473																																																	1	Substitution - Missense(1)	kidney(1)											184.0	168.0	173.0					4																	85642627		2203	4300	6503	SO:0001583	missense	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.7540T>A	4.37:g.85642627A>T	ENSP00000295888:p.Ser2514Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	A	13.72	2.322395	0.41096	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	T;T;T	0.64438	-0.1;-0.1;-0.07	5.77	3.29	0.37713	.	0.166906	0.56097	D	0.000033	T	0.39759	0.1090	N	0.11427	0.14	0.45899	D	0.998746	B	0.10296	0.003	B	0.09377	0.004	T	0.09818	-1.0657	10	0.15066	T	0.55	.	12.7805	0.57474	0.7212:0.2788:0.0:0.0	.	2514	Q8IZQ1	WDFY3_HUMAN	T	2497;2514;117	ENSP00000318466:S2497T;ENSP00000295888:S2514T;ENSP00000424987:S117T	ENSP00000295888:S2514T	S	-	1	0	WDFY3	85861651	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	3.445000	0.52921	0.506000	0.28125	0.477000	0.44152	TCC		0.473	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2		NM_014991	
WDR73	84942	hgsc.bcm.edu	37	15	85186877	85186894	+	In_Frame_Del	DEL	CTTGGCTCCGTGTTCCAT	CTTGGCTCCGTGTTCCAT	-	rs370347033|rs373448317|rs11267906|rs372798651|rs199676984	byFrequency	TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	CTTGGCTCCGTGTTCCAT	CTTGGCTCCGTGTTCCAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr15:85186877_85186894delCTTGGCTCCGTGTTCCAT	ENST00000434634.2	-	8	1004_1021	c.944_961delATGGAACACGGAGCCAAG	c.(943-963)gatggaacacggagccaagta>gta	p.DGTRSQ315del	WDR73_ENST00000398528.3_5'UTR|SCAND2P_ENST00000348993.5_RNA	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	315										cervix(1)|large_intestine(1)|lung(1)	3						AGAGGTTCTACTTGGCTCCGTGTTCCATCTTGGCTCCG	0.509														794	0.158546	0.1399	0.1383	5008	,	,		21272	0.0843		0.2038	False		,,,				2504	0.228																0										344,3500		48,248,1626						-0.4	0.0		dbSNP_120	111	1220,6750		177,866,2942	no	coding	WDR73	NM_032856.2		225,1114,4568	A1A1,A1R,RR		15.3074,8.949,13.2385				1564,10250				SO:0001651	inframe_deletion	84942			AK027200	CCDS45339.1	15q25.2	2013-01-09				ENSG00000177082		"""WD repeat domain containing"""	25928	protein-coding gene	gene with protein product						12477932	Standard	NM_032856		Approved	FLJ14888, HSPC264	uc002bkw.2	Q6P4I2		ENST00000434634.2:c.944_961delATGGAACACGGAGCCAAG	15.37:g.85186877_85186894delCTTGGCTCCGTGTTCCAT	ENSP00000387982:p.Asp315_Gln320del	Somatic		WXS	Illumina HiSeq	Phase_I	Q96JZ1|Q9P0B7	In_Frame_Del	DEL	ENST00000434634.2	37	CCDS45339.1																																																																																				0.509	WDR73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418195.1		NM_032856	
ZCCHC5	203430	broad.mit.edu;ucsc.edu	37	X	77913714	77913714	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chrX:77913714C>A	ENST00000321110.1	-	2	499	c.204G>T	c.(202-204)atG>atT	p.M68I		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	68	Pro-rich.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.M68I(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						CTGGGGGATTCATGTGCTCTG	0.587																																																	1	Substitution - Missense(1)	kidney(1)											26.0	25.0	25.0					X																	77913714		2203	4300	6503	SO:0001583	missense	203430			AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.204G>T	X.37:g.77913714C>A	ENSP00000316794:p.Met68Ile	Somatic		WXS	Illumina GAIIx	Phase_I	B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	C	7.072	0.568460	0.13560	.	.	ENSG00000179300	ENST00000321110	T	0.16743	2.32	3.24	1.39	0.22231	.	.	.	.	.	T	0.07324	0.0185	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.33394	-0.9870	9	0.44086	T	0.13	.	2.4913	0.04611	0.2369:0.4936:0.0:0.2694	.	68	Q8N8U3	ZCHC5_HUMAN	I	68	ENSP00000316794:M68I	ENSP00000316794:M68I	M	-	3	0	ZCCHC5	77800370	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.255000	0.18333	0.223000	0.20920	0.513000	0.50165	ATG		0.587	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1		NM_152694	
ZNF792	126375	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	35449369	35449369	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5080-01A-01D-1501-10	TCGA-B0-5080-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9adf0a63-1d5c-403a-9e78-cb9d62a249a4	b879cfef-694b-4868-a523-0e9e27486cd7	g.chr19:35449369C>T	ENST00000404801.1	-	4	1776	c.1390G>A	c.(1390-1392)Gac>Aac	p.D464N	ZNF792_ENST00000605484.1_Missense_Mutation_p.D397N	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	464					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.D464N(1)|p.D385N(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TTCATGAGGTCAGAGCTTCGG	0.522																																					GBM(1;7 183 21053 22581 22847)												2	Substitution - Missense(2)	kidney(2)											125.0	121.0	123.0					19																	35449369		2203	4300	6503	SO:0001583	missense	126375			AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"""Zinc fingers, C2H2-type"", ""-"""	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.1390G>A	19.37:g.35449369C>T	ENSP00000385099:p.Asp464Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B4E333|Q495L1|Q495L3|Q8N932	Missense_Mutation	SNP	ENST00000404801.1	37	CCDS12440.2	.	.	.	.	.	.	.	.	.	.	c	6.772	0.511366	0.12944	.	.	ENSG00000180884	ENST00000404801;ENST00000379189	T	0.07567	3.18	2.83	-2.75	0.05914	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02727	0.0082	N	0.04162	-0.26	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.46857	-0.9161	9	0.13470	T	0.59	.	3.8457	0.08934	0.168:0.4184:0.0:0.4136	.	464	Q3KQV3	ZN792_HUMAN	N	464;224	ENSP00000385099:D464N	ENSP00000368487:D224N	D	-	1	0	ZNF792	40141209	0.000000	0.05858	0.000000	0.03702	0.950000	0.60333	-2.450000	0.01007	-0.531000	0.06340	0.563000	0.77884	GAC		0.522	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1		NM_175872	
